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INTRODUCTION –

Mental health refers to cognitive, behavioral, and emotional well-being. It is all about how people think, feel, and behave. People sometimes use the term “mental health” to mean the absence of a mental disorder.

Mental health can affect daily living, relationships, and physical health.

However, this link also works in the other direction. Factors in people’s lives, interpersonal connections, and physical factors can all contribute to mental health disruptions.

Looking after mental health can preserve a person’s ability to enjoy life. Doing this involves reaching a balance between life activities, responsibilities, and efforts to achieve psychological resilience.

Conditions such as stress, depression, and anxiety can all affect mental health and disrupt a person’s routine.

Although the term mental health is in common use, many conditions that doctors recognize as psychological disorders have physical roots.

In this article, we explain what people mean by mental health and mental illness. We also describe the most common types of mental disorders, including their early signs and how to treat them.

Mental health is an integral and essential component of health. The WHO constitution states: “Health is a state of complete physical, mental and social well-being and not merely the absence of disease or infirmity.” An important implication of this definition is that mental health is more than just the absence of mental disorders or disabilities.

Mental health is a state of well-being in which an individual realizes his or her own abilities, can cope with the normal stresses of life, can work productively and is able to make a contribution to his or her community.

Mental health is fundamental to our collective and individual ability as humans to think, emote, interact with each other, earn a living and enjoy life. On this basis, the promotion, protection and restoration of mental health can be regarded as a vital concern of individuals, communities and societies throughout the world.

Key facts

• Mental health is more than the absence of mental disorders.
• Mental health is an integral part of health; indeed, there is no health without mental health.
• Mental health is determined by a range of socioeconomic, biological and environmental factors.
• Cost-effective public health and intersectoral strategies and interventions exist to promote, protect and restore mental health.

Mental health is an integral and essential component of health. The WHO constitution states: “Health is a state of complete physical, mental and social well-being and not merely the absence of disease or infirmity.” An important implication of this definition is that mental health is more than just the absence of mental disorders or disabilities.

Mental health is a state of well-being in which an individual realizes his or her own abilities, can cope with the normal stresses of life, can work productively and is able to make a contribution to his or her community.

Mental health is fundamental to our collective and individual ability as humans to think, emote, interact with each other, earn a living and enjoy life. On this basis, the promotion, protection and restoration of mental health can be regarded as a vital concern of individuals, communities and societies throughout the world.

Determinants of mental health

Multiple social, psychological, and biological factors determine the level of mental health of a person at any point of time. For example, violence and persistent socio-economic pressures are recognized risks to mental health. The clearest evidence is associated with sexual violence.

Poor mental health is also associated with rapid social change, stressful work conditions, gender discrimination, social exclusion, unhealthy lifestyle, physical ill-health and human rights violations.

There are specific psychological and personality factors that make people vulnerable to mental health problems. Biological risks include genetic factors.

Risk factors

Everyone has some risk of developing a mental health disorder, no matter their age, sex, income, or ethnicity.

In the U.S. and much of the developed world, mental disorders are one of the leading causes of disability.

Social and financial circumstances, biological factors, and lifestyle choices can all shape a person’s mental health.

A large proportion of people with a mental health disorder have more than one condition at a time.

It is important to note that good mental health depends on a delicate balance of factors and that several elements of life and the world at large can work together to contribute to disorders.

The following factors may contribute to mental health disruptions.

Continuous social and economic pressure

Having limited financial means or belonging to a marginalized or persecuted ethnic group can increase the risk of mental health disorders.

A 2015 study of 903 families in Iran identified several socioeconomic causes of mental health conditions, including poverty and living on the outskirts of a large city.

The researchers also explained the difference in the availability and quality of mental health treatment for certain groups in terms of modifiable factors, which can change over time, and nonmodifiable factors, which are permanent.

Modifiable factors for mental health disorders include:

• socioeconomic conditions, such whether work is available in the local area
• occupation
• a person’s level of social involvement
• education
• housing quality

Nonmodifiable factors include:

• gender
• age
• ethnicity

The study lists gender as both a modifiable and nonmodifiable factor. The researchers found that being female increased the risk of low mental health status by 3.96 times.

People with a “weak economic status” also scored highest for mental health conditions in this study.

Biological factors

The NIMH suggest that genetic family history can increase the likelihood of mental health conditions, as certain genes and gene variants put a person at higher risk.

However, many other factors contribute to the development of these disorders.

Having a gene with links to a mental health disorder, such as depression or schizophrenia, does not guarantee that a condition will develop. Likewise, people without related genes or a family history of mental illness can still have mental health issues.

Mental health conditions such as stress, depression, and anxiety may develop due to underlying, life-changing physical health problems, such as cancer, diabetes, and chronic pain.

Mental health promotion and protection

Mental health promotion involves actions that improve psychological well-being.  This may involve creating an environment that supports mental health.

An environment that respects and protects basic civil, political, socio-economic and cultural rights is fundamental to mental health. Without the security and freedom provided by these rights, it is difficult to maintain a high level of mental health.

National mental health policies should be concerned both with mental disorders and, with broader issues that promote mental health. Mental health promotion should be mainstreamed into governmental and nongovernmental policies and programmes. In addition to the health sector, it is essential to involve the education, labour, justice, transport, environment, housing, and welfare sectors.

Specific ways to promote mental health include:

• early childhood interventions (e.g. providing a stable environment that is sensitive to children’s health and nutritional needs, with protection from threats, opportunities for early learning, and interactions that are responsive, emotionally supportive and developmentally stimulating);
• support to children (e.g. life skills programmes, child and youth development programmes);
• socio-economic empowerment of women (e.g. improving access to education and microcredit schemes);
• social support for elderly populations (e.g. befriending initiatives, community and day centres for the aged);
• programmes targeted at vulnerable people, including minorities, indigenous people, migrants and people affected by conflicts and disasters (e.g. psycho-social interventions after disasters);
• mental health promotional activities in schools (e.g. programmes involving supportive ecological changes in schools);
• mental health interventions at work (e.g. stress prevention programmes);
• housing policies (e.g. housing improvement);
• ·violence prevention programmes (e.g. reducing availability of alcohol and access to arms);
• community development programmes (e.g. integrated rural development);
• poverty reduction and social protection for the poor;
• anti-discrimination laws and campaigns;
• promotion of the rights, opportunities and care of individuals with mental disorders.

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Common mental health disorders

The most common types of mental illness are as follows:

• anxiety disorders
• mood disorders
• schizophrenia disorders

Anxiety disorders

According to the Anxiety and Depression Association of America, anxiety disorders are the most common type of mental illness.

People with these conditions have severe fear or anxiety, which relates to certain objects or situations. Most people with an anxiety disorder will try to avoid exposure to whatever triggers their anxiety.

Examples of anxiety disorders include:

Generalized anxiety disorder (GAD)

The American Psychiatric Association define GAD as disproportionate worry that disrupts everyday living.

People might also experience physical symptoms, including

• restlessness
• fatigue
• tense muscles
• interrupted sleep

A bout of anxiety symptoms does not necessarily need a specific trigger in people with GAD.

They may experience excessive anxiety on encountering everyday situations that do not present a direct danger, such as chores or keeping appointments. A person with GAD may sometimes feel anxiety with no trigger at all.

Panic disorders

People with a panic disorder experience regular panic attacks, which involve sudden, overwhelming terror or a sense of imminent disaster and death.

Phobias

There are different types of phobia:

• Simple phobias: These might involve a disproportionate fear of specific objects, scenarios, or animals. A fear of spiders is a common example.
• Social phobia: Sometimes known as social anxiety, this is a fear of being subject to the judgment of others. People with social phobia often restrict their exposure to social environments.
• Agoraphobia: This term refers to a fear of situations in which getting away may be difficult, such as being in an elevator or moving train. Many people misunderstand this phobia as a fear of being outside.
• Phobias are deeply personal, and doctors do not know every type. There could be thousands of phobias, and what might seem unusual to one person may be a severe problem that dominates daily life for another.

Obsessive-compulsive disorder (OCD)

People with OCD have obsessions and compulsions. In other words, they experience constant, stressful thoughts and a powerful urge to perform repetitive acts, such as hand washing.

Post-traumatic stress disorder (PTSD)

PTSD can occur after a person experiences or witnesses a deeply stressful or traumatic event.

During this type of event, the person thinks that their life or other people’s lives are in danger. They may feel afraid or that they have no control over what is happening.

These sensations of trauma and fear may then contribute to PTSD.

Mood disorders

People may also refer to mood disorders as affective disorders or depressive disorders.

People with these conditions have significant changes in mood, generally involving either mania, which is a period of high energy and elation, or depression. Examples of mood disorders include:

• Major depression: An individual with major depression experiences a constant low mood and loses interest in activities and events that they previously enjoyed. They can feel prolonged periods of sadness or extreme sadness.
• Bipolar disorder: A person with bipolar disorder experiences unusual changes in their mood, energy levels, levels of activity, and ability to continue with daily life. Periods of high mood are known as manic phases, while depressive phases bring on low mood.
• Seasonal affective disorder (SAD): Reduced daylight triggers during the fall, winter, and early spring months trigger this type of major depression. It is most common in countries far from the equator.

Schizophrenia disorders

Mental health authorities are still trying to determine whether schizophrenia is a single disorder or a group of related illnesses. It is a highly complex condition.

Signs of schizophrenia typically develop between the ages of 16 and 30 years, according to the NIMH. The individual will have thoughts that appear fragmented, and they may also find it hard to process information.

Schizophrenia has negative and positive symptoms. Positive symptoms include delusions, thought disorders, and hallucinations. Negative symptoms include withdrawal, lack of motivation, and a flat or inappropriate mood.

Common mental health disorders

The most common types of mental illness are as follows:

• anxiety disorders
• mood disorders
• schizophrenia disorders

Anxiety disorders

According to the Anxiety and Depression Association of America, anxiety disorders are the most common type of mental illness.

People with these conditions have severe fear or anxiety, which relates to certain objects or situations. Most people with an anxiety disorder will try to avoid exposure to whatever triggers their anxiety.

Examples of anxiety disorders include:

Generalized anxiety disorder (GAD)

The American Psychiatric Association define GAD as disproportionate worry that disrupts everyday living.

People might also experience physical symptoms, including

• restlessness
• fatigue
• tense muscles
• interrupted sleep

A bout of anxiety symptoms does not necessarily need a specific trigger in people with GAD.

They may experience excessive anxiety on encountering everyday situations that do not present a direct danger, such as chores or keeping appointments. A person with GAD may sometimes feel anxiety with no trigger at all.

Panic disorders

People with a panic disorder experience regular panic attacks, which involve sudden, overwhelming terror or a sense of imminent disaster and death.

Phobias

There are different types of phobia:

• Simple phobias: These might involve a disproportionate fear of specific objects, scenarios, or animals. A fear of spiders is a common example.
• Social phobia: Sometimes known as social anxiety, this is a fear of being subject to the judgment of others. People with social phobia often restrict their exposure to social environments.
• Agoraphobia: This term refers to a fear of situations in which getting away may be difficult, such as being in an elevator or moving train. Many people misunderstand this phobia as a fear of being outside.

Phobias are deeply personal, and doctors do not know every type. There could be thousands of phobias, and what might seem unusual to one person may be a severe problem that dominates daily life for another.

Obsessive-compulsive disorder (OCD)

People with OCD have obsessions and compulsions. In other words, they experience constant, stressful thoughts and a powerful urge to perform repetitive acts, such as hand washing.

Post-traumatic stress disorder (PTSD)

PTSD can occur after a person experiences or witnesses a deeply stressful or traumatic event.

During this type of event, the person thinks that their life or other people’s lives are in danger. They may feel afraid or that they have no control over what is happening.

These sensations of trauma and fear may then contribute to PTSD.

Mood disorders

People may also refer to mood disorders as affective disorders or depressive disorders.

People with these conditions have significant changes in mood, generally involving either mania, which is a period of high energy and elation, or depression. Examples of mood disorders include:

• Major depression: An individual with major depression experiences a constant low mood and loses interest in activities and events that they previously enjoyed. They can feel prolonged periods of sadness or extreme sadness.
• Bipolar disorder: A person with bipolar disorder experiences unusual changes in their mood, energy levels, levels of activity, and ability to continue with daily life. Periods of high mood are known as manic phases, while depressive phases bring on low mood.
• Seasonal affective disorder (SAD): Reduced daylight triggers during the fall, winter, and early spring months trigger this type of major depression. It is most common in countries far from the equator. Learn more about SAD here.

Schizophrenia disorders

Mental health authorities are still trying to determine whether schizophrenia is a single disorder or a group of related illnesses. It is a highly complex condition.

Signs of schizophrenia typically develop between the ages of 16 and 30 years, according to the NIMH. The individual will have thoughts that appear fragmented, and they may also find it hard to process information.

Schizophrenia has negative and positive symptoms. Positive symptoms include delusions, thought disorders, and hallucinations. Negative symptoms include withdrawal, lack of motivation, and a flat or inappropriate mood.

WHO response

WHO supports governments in the goal of strengthening and promoting mental health. WHO has evaluated evidence for promoting mental health and is working with governments to disseminate this information and to integrate effective strategies into policies and plans.

In 2013, the World Health Assembly approved a “Comprehensive Mental Health Action Plan for 2013-2020”. The Plan is a commitment by all WHO’s Member States to take specific actions to improve mental health and to contribute to the attainment of a set of global targets.

The Action Plan’s overall goal is to promote mental well-being, prevent mental disorders, provide care, enhance recovery, promote human rights and reduce the mortality, morbidity and disability for persons with mental disorders. It focuses on 4 key objectives to:

• strengthen effective leadership and governance for mental health;
• provide comprehensive, integrated and responsive mental health and social care services in community-based settings;
• implement strategies for promotion and prevention in mental health; and
• strengthen information systems, evidence and research for mental health.

Particular emphasis is given in the Action Plan to the protection and promotion of human rights, the strengthening and empowering of civil society and to the central place of community-based care.

In order to achieve its objectives, the Action Plan proposes and requires clear actions for governments, international partners and for WHO. Ministries of Health will need to take a leadership role, and WHO will work with them and with international and national partners, including civil society, to implement the plan. As there is no action that fits all countries, each government will need to adapt the Action Plan to its specific national circumstances.

Early signs

There is no physical test or scan that reliably indicates whether a person has developed a mental illness. However, people should look out for the following as possible signs of a mental health disorder:

• withdrawing from friends, family, and colleagues
• avoiding activities that they would normally enjoy
• sleeping too much or too little
• eating too much or too little
• feeling hopeless
• having consistently low energy
• using mood-altering substances, including alcohol and nicotine, more frequently
• displaying negative emotions
• being confused
• being unable to complete daily tasks, such as getting to work or cooking a meal
• having persistent thoughts or memories that reappear regularly
• thinking of causing physical harm to themselves or others
• hearing voices
• experiencing delusions

Treatment

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There are various methods for managing mental health problems. Treatment is highly individual, and what works for one person may not work for another.

Some strategies or treatments are more successful in combination with others. A person living with a chronic mental disorder may choose different options at various stages in their life.

The individual needs to work closely with a doctor who can help them identify their needs and provide them with suitable treatment.

Treatments can include:

Psychotherapy, or talking therapies

This type of treatment takes a psychological approach to treating mental illness. Cognitive behavioral therapy, exposure therapy, and dialectical behavior therapy are examples.

Psychiatrists, psychologists, psychotherapists, and some primary care physicians carry out this type of treatment.

It can help people understand the root of their mental illness and start to work on more healthful thought patterns that support everyday living and reduce the risk of isolation and self-harm.

Medication

Some people take prescribed medications, such as antidepressants, antipsychotics, and anxiolytic drugs.

Although these cannot cure mental disorders, some medications can improve symptoms and help a person resume social interaction and a normal routine while they work on their mental health.

Some of these medications work by boosting the body’s absorption of feel-good chemicals, such as serotonin, from the brain. Other drugs either boost the overall levels of these chemicals or prevent their degradation or destruction.

Self-help

A person coping with mental health difficulties will usually need to make changes to their lifestyle to facilitate wellness.

Such changes might include reducing alcohol intake, sleeping more, and eating a balanced, nutritious diet. People may need to take time away from work or resolve issues with personal relationships that may be causing damage to their mental health.

People with conditions such as an anxiety or depressive disorder may benefit from relaxation techniques, which include deep breathing, meditation, and mindfulness.

Having a support network, whether via self-help groups or close friends and family, can also be essential to recovery from mental illness.

Suicide prevention

If you know someone at immediate risk of self-harm, suicide, or hurting another person:

• Ask the tough question: “Are you considering suicide?”
• Listen to the person without judgment.
• Call 911 or the local emergency number, or text TALK to 741741 to communicate with a trained crisis counselor.
• Stay with the person until professional help arrives.
• Try to remove any weapons, medications, or other potentially harmful objects.

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Family Planning

India was the first country in the world to have launched a National Programme for Family Planning in 1952. Over the decades, the programme has undergone transformation in terms of policy and actual programme implementation and currently being repositioned to not only achieve population stabilization goals but also promote reproductive health and reduce maternal, infant & child mortality and morbidity.

The objectives, strategies and activities of the Family Planning division are designed and operated towards achieving the family welfare goals and objectives stated in various policy documents (NPP: National Population Policy 2000, NHP: National Health Policy 2017, and NHM: National Rural Health Mission) and to honour the commitments of the Government of India (including ICPD: International Conference on Population and Development, MDG: Millennium Development Goals, SDG: Sustainable Development Goals, and others).

National Programme for Family Planning

India was the first country in the world to have launched a National Programme for Family Planning in 1952. Over the decades, the programme has undergone transformation in terms of policy and actual programme implementation and currently being repositioned to not only achieve population stabilization goals but also promote reproductive health and reduce maternal, infant & child mortality and morbidity. Under the programme public health sector provides various family planning services at various levels of health system.

 “Mission Pariwar Vikas”

For improved access to contraceptives and family planning services in high fertility districts spreading over seven high focus states, the Ministry of Health and Family Welfare launched “Mission Pariwar Vikas”in 2016. Special focus has been given to 146 high fertility Districts of Bihar, Uttar Pradesh, Assam, Chhattisgarh, Madhya Pradesh, Rajasthan & Jharkhand, with an aim to ensure availability of contraceptive methods at all the levels of Health Systems.

Goal – Its overall goal is to reduce India’s overall fertility rate to 2.1 by the year 2025

Objective –The key strategic focus of this initiative is on improving access to contraceptives through delivering assured services, ensuring commodity security and accelerating access to high quality family planning services.

Key strategies include –

·         Providing more choices through newly introduced contraceptives: Injectable Contraceptive, MPA (Medroxyprogesterone acetate) under Antara program and Chaya (earlier marketed as Saheli) will be made freely available to all government hospitals.

·         Emphasis on Spacing methods like IUCD

·         Revitalizing Postpartum Family Planning including PPIUCD in order to capitalize on the opportunity provided by increased institutional deliveries. Appointment of counsellors at high institutional delivery facilities is a key activity.

·         Strengthening community-based distribution of contraceptives by involving ASHAs and Focused IEC/ BCC efforts for enhancing demand and creating awareness on family planning

·         Availability of Fixed Day Static Services at all facilities.

·         Emphasis on minilap tubectomy services because of its logistical simplicity and requirement of only MBBS doctors and not post graduate gynecologists/ surgeons.

·         A rational human resource development plan for IUCD, minilap and NSV be chalked up to empower the facilities (DH, CHC, PHC, SHC) with at least one provider each for each of the services and Sub Center’s with ANMs trained in IUD insertion

·         Ensuring quality care in Family Planning services by establishing Quality Assurance Committees at state and district levels Plan for accreditation of more private/ NGO facilities to increase the provider base for family planning services under PPP.

·         Increasing male participation and promoting Non-scalpel vasectomy.

·         Demand generation activities in the form of display of posters, billboards and other audio and video materials in the various facilities be planned and budgeted.

·         Strong Political Will and Advocacy at the highest level, especially in states with high fertility rates.

Family planning/contraception methods

Brief overview:

Ensuring access for all people to their preferred contraceptive methods advances several human rights including the right to life and liberty, freedom of opinion and expression and the right to work and education, as well as bringing significant health and other benefits. Use of contraception prevents pregnancy-related health risks for women, especially for adolescent girls, and when births are separated by less than two years, the infant mortality rate is 45% higher than it is when births are 2-3 years and 60% higher than it is when births are four or more years apart[1]. It offers a range of potential non-health benefits that encompass expanded education opportunities and empowerment for women, and sustainable population growth and economic development for countries.

Modern contraceptive prevalence among Married women of reproductive age (MWRA) increased worldwide between 2000 and 2019 by 2.1 percentage points from 55.0% (95% UI 53.7%–56.3%) to 57.1% (95% UI 54.6%–59.5%)1. Reasons for this slow increase include: limited choice of methods; limited access to services, particularly among young, poorer and unmarried people; fear or experience of side-effects; cultural or religious opposition; poor quality of available services; users’ and providers’ bias against some methods; and gender-based barriers to accessing services.

Contraceptive methods

Methods of contraception include oral contraceptive pills, implants, injectables, patches, vaginal rings, Intra uterine devices, condoms, male and female sterilization, lactational amenorrhea methods, withdrawal and fertility awareness based methods.  These methods have different mechanisms of action and effectiveness in preventing unintended pregnancy. Effectiveness of methods is measured by the number of pregnancies per 100 women using the method per year.  Methods are classified by their effectiveness as commonly used into:  Very effective (0–0.9 pregnancies per 100 women); Effective (1-9 pregnancies per 100 women); Moderately effective (10-19 pregnancies per 100 women); Less effective (20 or more pregnancies per 100 women)

Mechanisms of action and effectiveness of contraceptive methods 

Method	How it works	Effectiveness: pregnancies per 100 women per year with consistent and correct use	Effectiveness: pregnancies per 100 women per year as commonly used
Combined oral contraceptives (COCs) or “the pill”	Prevents the release of eggs from the ovaries (ovulation)	0.3	7
Progestogen-only pills (POPs) or “the minipill”	Thickens cervical mucous to block sperm and egg from meeting and prevents ovulation	0.3	7
Implants	Thickens cervical mucous to blocks sperm and egg from meeting and prevents ovulation	0.1	0.1
Progestogen only injectables	Thickens cervical mucous to block sperm and egg from meeting and prevents ovulation	0.2	4
Monthly injectables or combined injectable contraceptives (CIC)	Prevents the release of eggs from the ovaries (ovulation)	0.05	3
Combined contraceptive patch and combined contraceptive vaginal ring (CVR)	Prevents the release of eggs from the ovaries (ovulation)	0.3 (for patch)   0.3 (for vaginal ring)	7 (for patch)   7 (for contraceptive vaginal ring)
Intrauterine device (IUD): copper containing	Copper component damages sperm and prevents it from meeting the egg	0.6	0.8
Intrauterine device (IUD) levonorgestrel	Thickens cervical mucous to block sperm and egg from meeting	0.5	0.7
Male condoms	Forms a barrier to prevent sperm and egg from meeting	2	13
Female condoms	Forms a barrier to prevent sperm and egg from meeting	5	21
Male sterilization (Vasectomy)	Keeps sperm out of ejaculated semen	0.1	0.15
Female sterilization (tubal ligation)	Eggs are blocked from meeting sperm	0.5	0.5
Lactational amenorrhea method (LAM)	Prevents the release of eggs from the ovaries (ovulation)	0.9 (in six months)	2 (in six months)
Standard Days Method or SDM	Prevents pregnancy by avoiding unprotected vaginal sex during most fertile days.	5	12
Basal Body Temperature (BBT) Method	Prevents pregnancy by avoiding unprotected vaginal sex during fertile days	Reliable effectiveness rates are not available
TwoDay Method	Prevents pregnancy by avoiding unprotected vaginal sex during most fertile days,	4	14
Sympto-thermal Method	Prevents pregnancy by avoiding unprotected vaginal sex during most fertile	<1	2
Emergency contraception pills (ulipristal acetate 30 mg or levonorgestrel 1.5 mg)	Prevents or delays the release of eggs from the ovaries. Pills taken to prevent pregnancy up to 5 days after unprotected sex	< 1 for  ulipristal acetate ECPs  1 for progestin-only ECPs 2 for combined estrogen and progestin ECPs
Calendar method or rhythm method	The couple prevents pregnancy by avoiding unprotected vaginal sex during the 1st and last estimated fertile days, by abstaining or using a condom.	Reliable effectiveness rates are not available	15
Withdrawal (coitus interruptus)	Tries to keep sperm out of the woman’s body, preventing fertilization	4	20

Natural Family Planning: Advantages and Disadvantages

Advantages

NFP has many advantages which commend it to many couples who do not wish to rely on external methods:

• NFP can be quite effective in reducing the odds of pregnancy, to less than one per cent per year. However, since many couples do not use the method perfectly, the typical-use pregnancy rate is closer to 25 percent.
• These methods are almost cost-free except for a basal body thermometer and perhaps a menstrual calendar.
• They do not involve the use of any medication so no side-effects occur.
• They help women become more aware of their cycles and related physiological changes.
• Couples can either plan for achieving or avoiding a pregnancy using their awareness of the woman’s fertility pattern.
• Women are able to better recognize abnormalities in their menstrual cycles and reproductive systems as a result of greater awareness of their bodies.
• It promotes communication and responsibility-sharing within couples.
• It is acceptable within all cultures and religious groups.
• There are no medical contraindications as such.
• It does not require the input of a healthcare provider but leaves fertility within the couple’s control.

Disadvantages

NFP is a process which has its own negatives, if the couple considers them to be such:

• It is a couple-centered process so both partners need to agree to use these methods.
• They do not protect the couple against sexually transmitted infections (STIs). Where appropriate, couples must use condoms or other barrier methods as well.
• Couples require careful observation and training for accurate recording, for a few months, before they can be used reliably to predict fertile days. This is more difficult but still quite possible with irregular cycles.
• Time and effort must be invested to observe and accurately record fertility indicators, which may not be possible for busy women.
• The coitus interruptus method has a high failure rate and puts great stress upon the male partner to remember to remove the penis just before ejaculation. Viable sperm may be present in the fluid that escapes before ejaculation, and sperms may also swim up from just outside the vagina to cause fertilization.

RECENT STUDY

India, the second most populous country of the world, harbors 17.5% of the world’s population in only 2.4% of the global land mass. Coincidentally it also houses almost 17.3% of the world’s protected couples and 20% of world’s eligible couples with unmet need. Therefore, large population size of India not only impacts its own but also the global health indicators.

India became the first country in the world to initiate the family planning program in 1952 with the goal of lowering fertility and slowing the population growth rate.

Since October 1997, the services and interventions under the Family Welfare Program and the Child Survival and Safe Motherhood Program have been integrated with the Reproductive and Child Health (RCH) Program, addressing aspects such as client choice, service quality, gender issues and underserved groups, including adolescents.

In 2012 the ‘London Summit on Family Planning’ was held against this backdrop to bring back the focus on family planning globally. It further paved the way for increased investment (by countries, national/international agen­cies, academia, and the private sector) in expanding access to family planning services and knowledge mechanisms to an additional 120 million women and girls in the world’s poorest countries by 2020.

As a subsequent action, the Government of India adopted a new approach, which places a well-defined focus to the family planning efforts under a larger and more comprehensive umbrella of RMNCH+A (Reproductive, Maternal, Newborn and Child Health and Adolescents) program. This paradigm shift was adopted recognizing the need and long-term goal of addressing a target free approach (beyond the simple strategy of achieving population stabilization), under the larger purview of improving maternal and child (and adolescent) health in India.

Since then, the country has accelerated its interventions to focus on the rollout of new contraceptives, institutionalization of fixed day services with aggressive focus on quality in family planning, revitalizing Postpartum and Post Abortion Family Planning services, enhanced focus on male participation, and community based schemes through ASHAs, streamlining and strengthening commodity security, Public Private Partnership etc. The government is also harnessing the expertise of various partners in the field of advocacy, capacity building, IEC and BCC through a new focused communications campaign, programme management, quality improvement, evaluation and assessments, feasibility studies, development of resource material and E- learning modules, software development, social marketing, social franchising and provision of skilled human resource for successful implementation of the programme.

INTRODUCTION-

Natural family planning is a form of birth control that doesn’t involve pills or devices. As a result, you don’t have side effects.

With these methods, you track your fertility, which is when you are most likely to get pregnant.

Usually, a woman releases an egg from her ovaries at about the same time each month. That’s called ovulation. The egg moves through the fallopian tubes toward the uterus. An unfertilized egg can live up to 24 hours.

Most women are fertile for about 6 days each month — 5 before ovulation and the day of ovulation. Natural family planning uses different methods to pinpoint those fertility days.

According to the Centers for Disease Control and Prevention (CDC), family planning is one of the 10 great public health achievements of the twentieth century, on a par with such accomplishments as vaccination and advances in motor vehicle safety (CDC, 1999). The ability of individuals to determine their family size and the timing and spacing of their children has resulted in significant improvements in health and in social and economic well-being (IOM, 1995). Smaller families and increased child spacing have helped decrease rates of infant and child mortality, improve the social and economic conditions of women and their families, and improve maternal health. Contemporary family planning efforts in the United States began in the early part of the twentieth century. By 1960, modern contraceptive methods had been developed, and in 1970 federal funding for family planning was enacted through the Title X program, the focus of this report.

This chapter provides an overview of family planning in the United States. It begins by explaining the importance of family planning services and the crucial needs they serve. Next is a review of milestones in family planning, including its legislative history. The third section provides data on the use of family planning services. This is followed by a discussion of the changing context in which these services are provided, including changes in the populations served by Title X, changes in technology and costs, the growing evidence base for reproductive health services, and social and cultural factors. The fifth section addresses the financing of family planning. The final section presents conclusions.

TYPES-

You can use natural family planning to control pregnancy in several ways:

Rhythm method. One of the oldest ways of natural family planning, this is based simply on the calendar. A woman’s normal menstrual cycle lasts between 28 and 32 days. Ovulation usually happens around day 14. So you would avoid unprotected sex on days 8 through 19, since that’s when you’re most fertile.

Cervical mucus or ovulation method. Here, you track the mucus your cervix makes. When you’re ovulating, your mucus is clear, stretchy, and wet, like raw egg whites. You write down what your mucus is like each day so you know when you’re ovulating.

Basal body temperature (BBT) method. Your temperature can rise between 0.5 and 1 degree when you ovulate and stay there until your next period. With this method, you take your temperature before you get out of bed each morning, before you have anything to eat or drink. BBT by itself isn’t a good way to prevent pregnancy because charting your temperature tells you when ovulation has already happened.

Symptothermal method. With this, you combine several methods, usually BBT and cervical mucus. Using more than one method can give you a better idea what’s going on in your body

How Effective Is It?

Natural family planning isn’t as effective as other methods of birth control. According to the CDC, the failure rate is 24%. That means about 1 in 4 women who use natural family planning will get pregnant.

You need to be careful, diligent, and have plenty of self-control to practice natural family planning. You have to follow instructions completely to be successful.

Benefits

Natural family planning is free. There are also no side effects. You can stop anytime and it won’t have an impact on your body. It also meets most religious guidelines.

Apps can help you track your fertility, which can make things easier.

Once you’ve learned a method, you don’t have to keep going to a doctor for refills or follow-up appointments.

RISK-

Natural family planning requires you to keep track of your body and stick to a schedule. It may not be for you if you have irregular periods or if you are breastfeeding.

Talk to your doctor or gynecologist if you have questions about these methods or to see if natural family planning might work for you.

Social and Cultural Factors

The many guidelines identified above reflect the recognition that effective family planning requires more than the existence of effective biomedical interventions. Family planning by nature requires close attention to social and cultural factors as well. Women and men may experience a number of sociocultural barriers to accessing family planning services, including distance to a family planning provider, difficulty in arranging transportation, limited days and hours of service operation, costs to receive services, long waiting times either to schedule an appointment or to be seen by a provider, poor quality of care, concerns about confidentiality, language barriers for those with limited English proficiency, lack of awareness of the availability of services, and perceived or real cost barriers (discussed further below) (Bertrand et al., 1995; Brindis et al., 2003).

Women in rural areas may have particular difficulty finding and obtaining family planning services (Frost et al., 2001). Some special populations, such as homeless women (Wenzel et al., 2001) and those who are incarcerated, may be especially likely to face access and cost barriers. Among teenagers, concern about confidentiality is the most significant barrier to obtaining family planning services (NRC, 2008). Additional barriers for adolescents may include community disapproval of their use of family planning, stigma related to obtaining contraceptives, lack of knowledge about the existence of publicly funded clinics, a perceived lack of affordable services, ambivalence, a history of sexual abuse, and fears of side effects (Frost and Kaeser, 1995; Brindis et al., 2003).

Medical barriers can also inhibit the use of family planning services. These barriers include service providers basing care decisions on outdated information or contraindications (IUDs, for example, are underutilized in the United States in part because of outdated information regarding the risks of this contraceptive method [Morgan, 2006]); process or scheduling impediments, such as physical exams that clients must undergo before receiving contraceptives; service provider qualifications or regulations that unnecessarily limit the types of personnel who can provide a service; provider bias toward a particular method or procedure; inappropriate management of side effects; and regulatory barriers (Bertrand et al., 1995).

IMPORTANT-

For many women, a family planning clinic is their entry point into the health care system and one they consider their usual source of care. In 2015, publicly funded family planning services helped prevent 1.9 million unintended pregnancies, including 440,000 teen pregnancies.

Unintended pregnancies include pregnancies that are reported by women as being mistimed or unwanted. Almost half (45%) of the 6.1 million annual pregnancies in the United States are unintended. Unintended pregnancies are associated with many negative health and economic consequences. The public cost of births resulting from unintended pregnancies was estimated at $21 billion in 2010 (this figure includes costs for prenatal care, labor and delivery, post-partum care, and 1 year of infant care).

For women, negative outcomes associated with unintended pregnancy can include:

• Delays in initiating prenatal care
• Reduced likelihood of breastfeeding
• Increased risk of maternal depression
• Increased risk of physical violence during pregnancy

Births resulting from unintended pregnancies can have negative consequences including birth defects and low birth weight.Children from unintended pregnancies are more likely to experience poor mental and physical health during childhood, and have lower educational attainment and more behavioral issues in their teen years.

The negative consequences associated with unintended pregnancies are greater for teen parents and their children. Eighty-two percent of pregnancies to mothers ages 15 to 19 are unintended. Twenty percent of all unintended pregnancies occur among teens. Teen mothers:

• Are less likely to graduate from high school or attain a GED by the time they reach age 30
• Earn an average of approximately $3,500 less per year, when compared with those who delay childbearing until their 20s
• Receive nearly twice as much federal aid for nearly twice as long
• Similarly, early fatherhood is associated with lower educational attainment and lower income.The average annual cost of teen childbearing to U.S. taxpayers is estimated at $9.1 billion, or $1,430 for each teen mother per year. Moreover, children of teen parents are more likely to have lower cognitive attainment and exhibit more behavior problems.Sons of teen mothers are more likely to be incarcerated, and daughters are more likely to become adolescent mothers.

Emerging Issues in Family Planning

Many women of reproductive age can benefit from preconception care (care before pregnancy). Preconception care has been defined as a set of interventions designed to identify and reduce risks to a woman’s health and improve pregnancy outcomes through prevention and management of health conditions. Preconception care can significantly reduce birth defects and disorders caused by preterm birth.

Elements of preconception care should be integrated into every primary care visit for women of reproductive age. Preconception care must not be limited to a single visit to a health care provider, but should rather be a process of care designed to meet the needs of an individual. As part of comprehensive preconception care, providers should encourage patients to develop a reproductive life plan. A reproductive life plan is a set of goals and action steps based on personal values and resources about whether and when to become pregnant and have (or not have) children. Providers also must educate patients about how their reproductive life plan impacts contraceptive and medical decision-making.

Increased awareness of the importance of preconception care can be achieved through public outreach and improved collaboration between health care providers. Currently, only 30.3% of women report receiving pre-pregnancy health counseling. Future efforts should promote research to further define the evidence-based standards of preconception care, determine its cost-effectiveness, and improve tracking of the proportion of women obtaining these services.

Social and Cultural Factors

The many guidelines identified above reflect the recognition that effective family planning requires more than the existence of effective biomedical interventions. Family planning by nature requires close attention to social and cultural factors as well. Women and men may experience a number of sociocultural barriers to accessing family planning services, including distance to a family planning provider, difficulty in arranging transportation, limited days and hours of service operation, costs to receive services, long waiting times either to schedule an appointment or to be seen by a provider, poor quality of care, concerns about confidentiality, language barriers for those with limited English proficiency, lack of awareness of the availability of services, and perceived or real cost barriers (discussed further below) (Bertrand et al., 1995; Brindis et al., 2003).

Women in rural areas may have particular difficulty finding and obtaining family planning services (Frost et al., 2001). Some special populations, such as homeless women (Wenzel et al., 2001) and those who are incarcerated, may be especially likely to face access and cost barriers. Among teenagers, concern about confidentiality is the most significant barrier to obtaining family planning services (NRC, 2008). Additional barriers for adolescents may include community disapproval of their use of family planning, stigma related to obtaining contraceptives, lack of knowledge about the existence of publicly funded clinics, a perceived lack of affordable services, ambivalence, a history of sexual abuse, and fears of side effects (Frost and Kaeser, 1995; Brindis et al., 2003).

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INTRODUCTION-

Ataxia describes a lack of muscle control or coordination of voluntary movements, such as walking or picking up objects. A sign of an underlying condition, ataxia can affect various movements and create difficulties with speech, eye movement and swallowing.

Persistent ataxia usually results from damage to the part of your brain that controls muscle coordination (cerebellum). Many conditions can cause ataxia, including alcohol misuse, certain medication, stroke, tumor, cerebral palsy, brain degeneration and multiple sclerosis. Inherited defective genes also can cause the condition.

Treatment for ataxia depends on the cause. Adaptive devices, such as walkers or canes, might help you maintain your independence. Physical therapy, occupational therapy, speech therapy and regular aerobic exercise also might help.

Ataxia is a movement disorder caused by problems in the brain. When you have ataxia, you have trouble moving parts of your body the way you want. Or the muscles in your arms and legs might move when you don’t want them to. The word ataxia actually means “without coordination.”

Ataxia isn’t a disorder or a disease itself — it’s a sign of other underlying disorders or diseases. Doctors have discovered anywhere from 50 to 100 different ataxias. They are grouped into categories based on what causes them, or based on which part of the body they affect.

Ataxia is typically defined as the presence of abnormal, uncoordinated movements. This usage describes signs & symptoms without reference to specific diseases. An unsteady, staggering gait is described as an ataxic gait because walking is uncoordinated and appears to be ‘not ordered’. Many motor activities may be described as ataxic if they appear to others, or are perceived by patients, as uncoordinated.

Ataxia can also refer to a group of neurological disorders in which motor behavior appears uncoordinated. Walking, speaking clearly, swallowing, writing, reading, and other activities that require fine motor control may be abnormal in patients with ataxia. Ataxia may result from abnormalities in different parts of the nervous system or different parts of the body, such as ataxic movements due to orthopedic injuries or pain from arthritis or muscle injury.

TYPES-

Ataxia is caused by damage to different areas of the central nervous system. Doctors categorize it by the specific part of the brain most affected, including:

• Cerebellar (brain)
• Sensory (nerves)
• Vestibular (ears)

Cerebellar Ataxia

Your cerebellum is the part of your brain that’s in charge of balance and coordination. If part of your cerebellum starts to wear away, you can develop cerebellar ataxia. Sometimes it can also affect your spinal cord. It’s the most common form of ataxia.

Symptoms of cerebellar ataxia include:

• Changes in your voice
• Dizziness
• Fatigue
• Headaches
• Muscle tremors
• Slurred speech
• Trouble walking
• Wide gait

Sensory Ataxia

Sensory ataxia is the result of damage to nerves in your spinal cord or your peripheral nervous system. That is the part of your nervous system outside of the brain and spinal cord.

When you have sensory ataxia, you have less sensation in your feet and legs from the nerve damage, so you have less feedback from your brain telling you where your body is in relation to the ground. It’s also called proprioceptive ataxia.

Symptoms of sensory ataxia include:

• Difficulty touching your finger to your nose with closed eyes
• Inability to sense vibrations
• Trouble walking in dim light
• Walking with a “heavy step,” or stomping when you walk

Vestibular Ataxia

Vestibular ataxia affects your vestibular system. This system is made up of your inner ear and ear canals, which contain fluid. They sense the movements of your head and help with your balance and spatial orientation.

When the nerves in your vestibular system are affected, you can have the following problems:

• Blurred vision and other eye issues
• Nausea and vomiting
• Problems standing and sitting
• Staggering when you walk
• Trouble walking in a straight line
• Vertigo, or dizziness

CAUSES-

Around 150,000 people in the U.S. deal with some form of ataxia. There are different causes for it. Some are genetic, some are acquired, like injuries, and some have no known clear cause.

Genetic. You can inherit a certain mutated, or changed, gene from one or both of your parents that causes ataxia. Or you may inherit a mutated gene that causes a disorder with ataxia as a symptom.

Some of the specific types of genetic ataxia include:

• Ataxia telangiectasia
• Ataxia with oculomotor apraxia
• Dominant spastic ataxias
• Dominant spinocerebellar ataxias (SCA)
• Episodic ataxia
• Friedreich’s ataxia
• Recessive spastic ataxias
• Wilson’s disease

Acquired. Acquired ataxia occurs when you have damage to your spinal cord or nerves. The damage might be from an injury or an illness.

Some of the causes of acquired ataxia could include:

• Brain tumors
• Brain hemorrhage (bleeding)
• Cerebral palsy
• Chickenpox
• Hydrocephalus, or too much fluid buildup in the brain
• Head trauma
• Multiple sclerosis
• Reactions to certain cancers
• Vitamin E or B12 deficiency

You can also get ataxia if you have a reaction to certain medications, from alcohol or drug use, or from exposure to poison.

Idiopathic. When you haven’t inherited a mutated gene or had an illness or injury that could have caused your ataxia, it’s called idiopathic ataxia. Your doctor will diagnose you with idiopathic ataxia if he can’t find a medical reason for your ataxia symptoms.

The most common idiopathic ataxia is called multiple system atrophy, or MSA. Doctors haven’t pinned down possible causes for this group of ataxias. They may come from a combination of environmental factors and genetic causes.

Damage, degeneration or loss of nerve cells in the part of your brain that controls muscle coordination (cerebellum), results in ataxia. Your cerebellum comprises two portions of folded tissue situated at the base of your brain near your brainstem. This area of the brain helps with balance as well as eye movements, swallowing and speech.

Diseases that damage the spinal cord and peripheral nerves that connect your cerebellum to your muscles also can cause ataxia. Ataxia causes include:

• Head trauma. Damage to your brain or spinal cord from a blow to your head, such as might occur in a car accident, can cause acute cerebellar ataxia, which comes on suddenly.
• Stroke. Either a blockage or bleeding in the brain can cause ataxia. When the blood supply to a part of your brain is interrupted or severely reduced, depriving brain tissue of oxygen and nutrients, brain cells die.
• Cerebral palsy. This is a general term for a group of disorders caused by damage to a child’s brain during early development — before, during or shortly after birth — that affects the child’s ability to coordinate body movements.
• Autoimmune diseases. Multiple sclerosis, sarcoidosis, celiac disease and other autoimmune conditions can cause ataxia.
• Infections. Ataxia can be an uncommon complication of chickenpox and other viral infections such as HIV and Lyme disease. It might appear in the healing stages of the infection and last for days or weeks. Normally, the ataxia resolves over time.
• Paraneoplastic syndromes. These are rare, degenerative disorders triggered by your immune system’s response to a cancerous tumor (neoplasm), most commonly from lung, ovarian, breast or lymphatic cancer. Ataxia can appear months or years before the cancer is diagnosed.
• Abnormalities in the brain. An infected area (abscess) in the brain may cause ataxia. A growth on the brain, cancerous (malignant) or noncancerous (benign), can damage the cerebellum.
• Toxic reaction. Ataxia is a potential side effect of certain medications, especially barbiturates, such as phenobarbital; sedatives, such as benzodiazepines; antiepileptic drugs, such as phenytoin; and some types of chemotherapy. Vitamin B-6 toxicity also may cause ataxia. These causes are important to identify because the effects are often reversible. Also, some medications you take can cause problems as you age, so you might need to reduce your dose or discontinue the medication. Alcohol and drug intoxication; heavy metal poisoning, such as from lead or mercury; and solvent poisoning, such as from paint thinner, also can cause ataxia.
• Vitamin E, vitamin B-12 or thiamine deficiency. Not getting enough of these nutrients, because of the inability to absorb enough, alcohol misuse or other reasons, can lead to ataxia.
• Thyroid problems. Hypothyroidism and hypoparathyroidism can cause ataxia.
• COVID-19 infection. This infection may cause ataxia, most commonly in very severe cases.

For some adults who develop sporadic ataxia, no specific cause can be found. Sporadic ataxia can take a number of forms, including multiple system atrophy, a progressive, degenerative disorder.

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Hereditary ataxias

Some types of ataxia and some conditions that cause ataxia are hereditary. If you have one of these conditions, you were born with a defect in a certain gene that makes abnormal proteins.

The abnormal proteins hamper the function of nerve cells, primarily in your cerebellum and spinal cord, and cause them to degenerate. As the disease progresses, coordination problems worsen.

You can inherit a genetic ataxia from either a dominant gene from one parent (autosomal dominant disorder) or a recessive gene from each parent (autosomal recessive disorder). In the latter case, it’s possible neither parent has the disorder (silent mutation), so there might be no obvious family history.

Different gene defects cause different types of ataxia, most of which are progressive. Each type causes poor coordination, but each has specific signs and symptoms.

Autosomal dominant ataxias

These include:

• Spinocerebellar ataxias. Researchers have identified more than 40 autosomal dominant ataxia genes, and the number continues to grow. Cerebellar ataxia and cerebellar degeneration are common to all types, but other signs and symptoms, as well as age of onset, differ depending on the specific gene mutation.
• Episodic ataxia (EA). There are eight recognized types of ataxia that are episodic rather than progressive — EA1 through EA7, plus late-onset episodic ataxia. EA1 and EA2 are the most common. EA1 involves brief ataxic episodes that may last seconds or minutes. The episodes are triggered by stress, being startled or sudden movement, and often are associated with muscle twitching. EA2 involves longer episodes, usually lasting from 30 minutes to six hours, which also are triggered by stress. You might have dizziness (vertigo), fatigue and muscle weakness during your episodes. In some cases, symptoms resolve in later life. Episodic ataxia doesn’t shorten life span, and symptoms might respond to medication.

Autosomal recessive ataxias

These include:

• Friedreich’s ataxia. This common hereditary ataxia involves damage to your cerebellum, spinal cord and peripheral nerves. Peripheral nerves carry signals from your brain and spinal cord to your muscles. In most cases, signs and symptoms appear well before age 25. The rate of disease progression varies. The first indication generally is difficulty walking (gait ataxia). The condition typically progresses to the arms and trunk. Muscles weaken and waste away over time, causing deformities, particularly in your feet, lower legs and hands. Other signs and symptoms that might develop as the disease progresses include slow, slurred speech (dysarthria); fatigue; rapid, involuntary eye movements (nystagmus); spinal curvature (scoliosis); hearing loss; and heart disease, including heart enlargement (cardiomyopathy) and heart failure. Early treatment of heart problems can improve quality of life and survival.
• Ataxia-telangiectasia. This rare, progressive childhood disease causes degeneration in the brain and other body systems. The disease also causes immune system breakdown (immunodeficiency disease), which increases susceptibility to other diseases, including infections and tumors. It affects various organs. Telangiectasia is the formation of tiny red “spider” veins that might appear in the corners of your child’s eyes or on the ears and cheeks. Delayed motor skill development, poor balance and slurred speech are typically the first indications of the disease. Recurrent sinus and respiratory infections are common. Children with ataxia-telangiectasia are at high risk of developing cancer, particularly leukemia or lymphoma. Most people with the disease need a wheelchair by their teens and die before age 30, usually of cancer or lung (pulmonary) disease.
• Congenital cerebellar ataxia. This type of ataxia results from damage to the cerebellum that’s present at birth.
• Wilson’s disease. People with this condition accumulate copper in their brains, livers and other organs, which can cause neurological problems, including ataxia. Early identification of this disorder can lead to treatment that will slow progression.

SYMPTOM-

Ataxia can develop over time or come on suddenly. A sign of a number of neurological disorders, ataxia can cause:

• Poor coordination
• Unsteady walk and a tendency to stumble
• Difficulty with fine motor tasks, such as eating, writing or buttoning a shirt
• Change in speech
• Involuntary back-and-forth eye movements (nystagmus)
• Difficulty swallowing

When to see a doctor

If you aren’t aware of having a condition that causes ataxia, such as multiple sclerosis, see your doctor as soon as possible if you:

• Lose balance
• Lose muscle coordination in a hand, arm or leg
• Have difficulty walking
• Slur your speech
• Have difficulty swallowing

TREATMENT-

The best treatment for your ataxia symptoms depends on the type you have. There is no specific treatment for ataxia itself. If your ataxia is a symptom of another disorder, your doctor will treat that disorder.

If it’s due to a cause that you can avoid, like lack of vitamins or exposure to poison, your doctor will help you address the problem causing the ataxia.

In order to help you cope with your symptoms, your doctor may recommend:

• Counseling
• Physical or occupational therapy
• Speech therapy
• Support groups

Your doctor can also help you find tools so you can move around easier, such as a cane or a walker. There are also utensils to help you eat and speak more easily.

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INTRODUCTION –

Spinal muscular atrophy (SMA) most often affects babies and children and makes it hard for them to use their muscles. When your child has SMA, there’s a breakdown of the nerve cells in the brain and spinal cord. The brain stops sending messages that control muscle movement.

When that happens, your child’s muscles get weak and shrink, and children can have trouble controlling head movement, sitting without help, and even walking. In some cases, they can have trouble swallowing and breathing as the disease gets worse.

There are different types of SMA, and how serious it is depends on which type your child has. There’s no cure, but treatments can improve some symptoms and, in some cases, help your child live longer. Researchers are working to find new ways to fight the disease.

Keep in mind that every child or adult who has SMA will have a different experience. No matter how much your child’s movement is limited, the disease doesn’t affect their intelligence in any way. They will still be able to make friends and socialize.

Spinal muscular atrophy (SMA) is a genetic disease affecting the central nervous system, peripheral nervous system, and voluntary muscle movement (skeletal muscle).

Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease. SMA is muscular because its primary effect is on muscles, which don’t receive signals from these nerve cells. Atrophy is the medical term for getting smaller, which is what generally happens to muscles when they’re not stimulated by nerve cells.

SMA involves the loss of nerve cells called motor neurons in the spinal cord and is classified as a motor neuron disease.

In the most common form of SMA (chromosome 5 SMA, or SMN-related SMA), there is wide variability in age of onset, symptoms, and rate of progression. In order to account for these differences, chromosome 5-related SMA, which often is autosomal recessive, is classified into types 1 through 4.

The age at which SMA symptoms begin roughly correlates with the degree to which motor function is affected: The earlier the age of onset, the greater the impact on motor function. Children who display symptoms at birth or in infancy typically have the lowest level of functioning (type 1). Later-onset SMA with a less severe course (types 2 and 3, and in teens or adults, type 4) generally correlates with increasingly higher levels of motor function.

CAUSES-

Chromosome 5 SMA is caused by a deficiency of a motor neuron protein called SMN, for “survival of motor neuron.” This protein, as its name implies, seems to be necessary for normal motor neuron function. SMN plays a pivotal role in gene expression in motor neurons. Its deficiency is caused by genetic flaws (mutations) on chromosome 5 in a gene called SMN1. The most common mutation in the SMN1 gene within patients diagnosed with SMA is a deletion of a whole segment, called exon 7.Neighboring SMN2 genes can in part compensate for nonfunctional SMN1 genes as there is 99% identity between these two genes.

Other rare forms of SMA (non-chromosome 5) are caused by mutations in genes other than SMN1.

SMA is a disease that’s passed down through families. If your child has SMA, it’s because they have two copies of a broken gene, one from each parent.

When this happens, their body won’t be able to make a specific kind of protein. Without it, the cells that control muscles die.

If your child gets a faulty gene from just one of you, they won’t get SMA but will be a carrier of the disease. When your child grows up, they could pass the broken gene to their own child.

TYPES-

There are four different types of spinal muscular atrophy. The classification is determined by the developmental milestones the child has hit by the time of the disease onset. Types I and II are the most common.

The types of spinal muscular atrophy (SMA) are:

• Type 1 (severe) SMA: This type is also called Werdnig-Hoffmann Disease. It is the most severe and the most common type of SMA. It is usually evident at birth, or in the first few months afterwards (0-6 months). Symptoms include floppy limbs and weak trunk movement. Children with this type usually have very limited ability to move. They will also have a hard time feeding and swallowing, holding their head up, and breathing. Type 1 SMA progresses rapidly, with the weakening of muscles leading to frequent respiratory infections and usually death by the age of 2. Infants with SMA type 1 can never sit.
• Type 2 (intermediate) SMA: Symptoms usually appear between the ages of 7 to 18 months. The rate of progression can vary greatly. The disease affects the child’s legs more than his or her arms. Children with SMA type 2 can never stand. Respiratory infections are also common with this type of SMA. Life expectancy can range from early childhood to adulthood, depending on the severity of the patient’s condition.
• Type 3 (mild) SMA: This type of SMA is also called Kugelberg-Welander or Juvenile Spinal Muscular Atrophy. Symptoms can first appear during a wide range of years, from 18 months to early adulthood. Patients with Type 3 SMA can stand and walk, but may have trouble getting up from sitting position. They may also experience mild muscle weakness and are at greater risk for respiratory infections. Most patients with Type 3 SMA have a life expectancy close to normal.
• Type 4 (adult) SMA: Symptoms for this rare type of SMA do not usually emerge until the second or third decade of life. Patients with Type 4 SMA can walk during adulthood but will usually experience slowly progressive muscle weakness and other typical SMA symptoms.

SYMPTOM-

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SMA symptoms cover a broad spectrum, ranging from mild to severe.

The primary symptom of chromosome 5-related (SMN-related) SMA is weakness of the voluntary muscles. The muscles most affected are those closest to the center of the body, such as those of the shoulders, hips, thighs, and upper back. The lower limbs seem to be affected more than the upper limbs, and deep tendon reflexes are decreased.

Special complications occur if the muscles used for breathing and swallowing are affected, resulting in abnormalities in these functions. If the muscles of the back weaken, spinal curvatures can develop.

There’s a great deal of variation in the age of onset and level of motor function achieved in chromosome 5-related SMA. These are roughly correlated with how much functional SMN protein is present in the motor neurons, which in turn correlates with how many copies of SMN2 genes a person has. Sensory, mental, and emotional functioning are entirely normal in chromosome-5 SMA.

Some forms of SMA are not linked to chromosome 5 or SMN deficiency. These forms vary greatly in severity and in the muscles most affected. While most forms, like the chromosome 5-related form, affect mostly the proximal muscles, other forms exist that affect mostly the distal muscles (those farther away from the body’s center) — at least in the beginning.

DIAGNOSIS-

Spinal muscular atrophy is usually diagnosed through a blood test to check for the presence of the SMN1 gene (genetic testing). This gene will be missing in about 95 percent of those with SMN-related SMA. In the other 5 percent, the gene will appear mutated. Your doctor will order this test if he or she suspects that your child might have SMA based on his or her symptoms and other diagnostic work up. Your doctor may order an electrical study called EMG (electromyography) or perform a muscle biopsy to confirm the diagnosis of SMA.

TREATMENT-

There is currently no cure for spinal muscular atrophy. Treatment for children affected with SMA is focused on treating their symptoms, preventing complications, and improving their quality of life. Your doctor will be able to determine the best treatment for your child based on the type of SMA, the severity of the condition, and his or her age.

For those with Type 1 SMA, treatments can include feeding tubes and ventilators and other forms of respiratory assistance. Physical therapy may also benefit patients with Type 1 SMA. Many patients with this type of spinal muscular atrophy may spend most of their lives in the hospital. At some point, parents may be asked to make very difficult decisions about the use of life-sustaining devices for their child.

Your doctor or the hospital’s social services department should be able to put you in touch with support groups such as Cure SMA for help in dealing with these extremely difficult decisions.

For those with Type 2 and Type 3 SMA, treatments may include orthopedic braces, wheelchairs, and physical and occupational therapies.

It is important to remember that the brains of those with spinal muscular atrophy develop normally. Many patients with SMA are highly intelligent and sociable. Talking to them, playing games, and providing other forms of mental stimulation can aid the emotional and physical lives of these children.

Spinal Muscular Atrophy Treatment

The FDA has approved two medications to treat SMA: nusinersen (Spinraza) and onasemnogene abeparvovec-xioi (Zolgensma). Both are forms of gene therapy that affect the genes involved in SMA. The SMN1 and SMN2 genes give your body instructions for making a protein that helps with controlling muscle movement.

• Nusinersen. This treatment adjusts the SMN2 gene and lets it make more protein. It’s used for both children and adults with SMA. Your child’s medical team will inject the drug into the fluid around their spinal cord. Including preparation and recovery time, this can take at least 2 hours and will need to be done several times, followed by another dose every 4 months. Studies show it helps about 40% of people who use it by making them stronger and slowing the disease.
• Onasemnogene abeparvovec-xioi. This involves replacing the problem SMN1 gene. It’s used for children under 2 years old. Your child’s medical team will put a tiny tube called a catheter directly into a vein in their arm or hand (an IV). Then, they’ll send a copy of the SMN gene through the tube into a specific group of motor neuron cells. This will need to be done only one time. In studies, onasemnogene abeparvovec-xioi helped children with SMA reach certain developmental milestones faster, like controlling their heads or sitting without support.

Besides gene therapy, your doctor may suggest a few other ways to help manage symptoms:

• Breathing. With SMA, especially types 1 and 2, weak muscles keep air from moving easily in and out of the lungs. If this happens to your child, they may need a special mask or mouthpiece. For severe problems, your child may use a machine that helps them breathe.
• Swallowing and nutrition. When muscles in the mouth and throat are weak, babies and children with SMA can have a hard time sucking and swallowing. In that situation, your child may not get good nutrition and may have trouble growing. Your doctor may suggest working with a nutritionist. Some babies may need a feeding tube.
• Movement. Physical and occupational therapy, which use exercises and regular daily activities, can help protect your child’s joints and keep muscles strong. A therapist may suggest leg braces, a walker, or an electric wheelchair. Special tools can control computers and phones and help with writing and drawing.
• Back issues. When SMA starts in childhood, children can get a curve in their spine. A doctor may suggest that your child wear a back brace while their spine is still growing. When they’ve stopped growing, they may have surgery to fix the problem.

Caring for Your Child With Spinal Muscular Atrophy

There’s a lot you can do as a family to help your child with some of the basic tasks of daily life. A team of doctors, therapists, and support groups can help you with your child’s care and let them keep up with friendships and activities with your family.

Your child will probably need lifelong care from different types of doctors. They may need to see:

• Pulmonologists, doctors who treat lungs
• Neurologists, specialists in nerve problems
• Orthopedists, doctors who treat bone problems
• Gastroenterologists, specialists in stomach disorders
• Nutritionists, experts in the way food affects your child’s health
• Physical therapists, people trained in using exercise to improve your child’s motion This team can help you make decisions about your child’s health. It’s important not to let yourself get overwhelmed by the task of managing care. Check for support groups that can let you share your experiences with others who are in similar situations.

PROGNOSIS-

Many scientists and clinicians are working hard to improve our understanding of this disease and improve the survival and quality of life of the SMA patient. Recent discoveries of the genes involved in SMA and the role(s) of these genes in maintaining the health of the motor neurons along with new developments in molecular medicine provide hope for better treatment strategies in this group of diseases. Research is now focused on strategies to enhance production of SMN protein through different approaches.

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INTRODUCTION-

Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous system).

In MS, the immune system attacks the protective sheath (myelin) that covers nerve fibers and causes communication problems between your brain and the rest of your body. Eventually, the disease can cause permanent damage or deterioration of the nerves.

Signs and symptoms of MS vary widely and depend on the amount of nerve damage and which nerves are affected. Some people with severe MS may lose the ability to walk independently or at all, while others may experience long periods of remission without any new symptoms.

There’s no cure for multiple sclerosis. However, treatments can help speed recovery from attacks, modify the course of the disease and manage symptoms.

Multiple sclerosis is a chronic disease that affects the central nervous system, especially the brain, spinal cord, and optic nerves. This can lead to a wide range of symptoms throughout the body.

It is not possible to predict how multiple sclerosis (MS) will progress in any individual.

Some people have mild symptoms, such as blurred vision and numbness and tingling in the limbs. In severe cases, a person may experience paralysis, vision loss, and mobility problems. However, this is rare.

It is difficult to know precisely how many people have MS. According to the National Institute for Neurological Disorders and Stroke (NINDS), 250,000–350,000 people in the United States are living with MS.

The National Multiple Sclerosis Society estimate the number could be closer to 1 million.

However, new treatments are proving effective at slowing the disease.

What is MS?

Scientists do not know exactly what causes MS, but they believe it is an autoimmune disorder that affects the central nervous system (CNS). When a person has an autoimmune disease, the immune system attacks healthy tissue, just as it might attack a virus or bacteria.

In the case of MS, the immune system attacks the myelin sheath that surrounds and protects the nerve fibers, causing inflammation. Myelin also helps the nerves conduct electrical signals quickly and efficiently.

Multiple sclerosis means “scar tissue in multiple areas.”

When the myelin sheath disappears or sustains damage in multiple areas, it leaves a scar, or sclerosis. Doctors also call these areas plaques or lesions. They mainly affect:

• the brain stem
• the cerebellum, which coordinates movement and controls balance
• the spinal cord
• the optic nerves
• white matter in some regions of the brain

As more lesions develop, nerve fibers can break or become damaged. As a result, the electrical impulses from the brain do not flow smoothly to the target nerve. This means that the body cannot carry out certain functions.

Types of MS

There are four types of MS:

Clinically isolated syndrome (CIS): This is a single, first episode, with symptoms lasting at least 24 hours. If another episode occurs at a later date, a doctor will diagnose relapse-remitting MS.

Relapse-remitting MS (RRMS): This is the most common form, affecting around 85% of people with MS. RRMS involves episodes of new or increasing symptoms, followed by periods of remission, during which symptoms go away partially or totally.

Primary progressive MS (PPMS): Symptoms worsen progressively, without early relapses or remissions. Some people may experience times of stability and periods when symptoms worsen and then get better. Around 15% of people with MS have PPMS.

Secondary progressive MS (SPMS): At first, people will experience episodes of relapse and remission, but then the disease will start to progress steadily.

SYMPTOM-

Because MS affects the CNS, which controls all the actions in the body, symptoms can affect any part of the body.

The most common symptoms of MS are:

Muscle weakness: People may develop weak muscles due to lack of use or stimulation due to nerve damage.

Numbness and tingling: A pins and needles-type sensation is one of the earliest symptoms of MS that can affect the face, body, or arms and legs.

Lhermitte’s sign: A person may experience a sensation like an electric shock when they move their neck, known as Lhermitte’s sign.

Bladder problems: A person may have difficulty emptying their bladder or need to urinate frequently or suddenly (urge incontinence). Loss of bladder control is an early sign of MS.

Bowel problems: Constipation can cause fecal impaction, which can lead to bowel incontinence.

Fatigue: This can undermine a person’s ability to function at work or at home. Fatigue is one of the most common symptoms of MS.

Dizziness and vertigo: These are common problems, along with balance and coordination issues.

Sexual dysfunction: Both males and females may lose interest in sex.

Spasticity and muscle spasms: This is an early sign of MS. Damaged nerve fibers in the spinal cord and brain can cause painful muscle spasms, particularly in the legs.

Tremor: Some people with MS may experience involuntary quivering movements.

Vision problems: Some people may experience double or blurred vision, a partial or total loss of vision, or red-green color distortion. This usually affects one eye at a time. Inflammation of the optic nerve can result in pain when the eye moves. Vision problems are an early sign of MS.

Gait and mobility changes: MS can change the way people walk, because of muscle weakness and problems with balance, dizziness, and fatigue.

Emotional changes and depression: Demyelination and nerve-fiber damage in the brain can trigger emotional changes.

Learning and memory problems: These can make it difficult to concentrate, plan, learn, prioritize, and multitask.

Pain: Pain is a common symptom in MS. Neuropathic pain is directly due to MS. Other types of pain occur because of weakness or stiffness of muscles.

Less common symptoms include:

• headache
• hearing loss
• itching
• respiratory or breathing problems
• seizures
• speech disorders
• swallowing problems

There is also a higher risk of:

• urinary tract infections
• reduced activity and loss of mobility

These can impact a person’s work and social life.

In the later stages, people may experience changes in perception and thinking and sensitivity to heat.

MS affects individuals differently. For some, it starts with a subtle sensation, and their symptoms do not progress for months or years. Sometimes, symptoms worsen rapidly, within weeks or months.

A few people will only have mild symptoms, and others will experience significant changes that lead to disability. However, most people will experience times when symptoms worsen and then get better.

Lhermitte’s sign is a common symptom of MS that happens when a person moves their head.

When to see a doctor

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See a doctor if you experience any of the above symptoms for unknown reasons.

Disease course

Most people with MS have a relapsing-remitting disease course. They experience periods of new symptoms or relapses that develop over days or weeks and usually improve partially or completely. These relapses are followed by quiet periods of disease remission that can last months or even years.

Small increases in body temperature can temporarily worsen signs and symptoms of MS, but these aren’t considered true disease relapses.

At least 50% of those with relapsing-remitting MS eventually develop a steady progression of symptoms, with or without periods of remission, within 10 to 20 years from disease onset. This is known as secondary-progressive MS.

The worsening of symptoms usually includes problems with mobility and gait. The rate of disease progression varies greatly among people with secondary-progressive MS.

Some people with MS experience a gradual onset and steady progression of signs and symptoms without any relapses, known as primary-progressive MS

RISK FACTOR-

Scientists do not really know what causes MS, but risk factors include:

Age: Most people receive a diagnosis between the ages of 20 and 40 years.

Sex: Most forms of MS are twice as likely to affect women than men.

Genetic factors: Susceptibility may pass down in the genes, but scientists believe an environmental trigger is also necessary for MS to develop, even in people with specific genetic features.

Smoking: People who smoke appear to be more likely to develop MS. They tend to have more lesions and brain shrinkage than non-smokers.

Infections: Exposure to viruses, such as Epstein-Barr virus (EBV), or mononucleosis, may increase a person’s risk of developing MS, but research has not shown a definite link. Other viruses that may play a role include human herpes virus type 6 (HHV6) and mycoplasma pneumonia.

Vitamin D deficiency: MS is more common among people who have less exposure to bright sunlight, which is necessary for the body to create vitamin D. Some experts think that low levels of vitamin D may affect the way the immune system works.

Vitamin B12 deficiency: The body uses vitamin B when it produces myelin. A lack of this vitamin may increase the risk of neurological diseases, such as MS.

Previous theories have included exposure to canine distemper, physical trauma, or aspartame, an artificial sweetener, but there is no evidence to support these

There is probably no single trigger for MS, but multiple factors may contribute.

COMPLICATION-

People with multiple sclerosis may also develop:

• Muscle stiffness or spasms
• Paralysis, typically in the legs
• Problems with bladder, bowel or sexual function
• Mental changes, such as forgetfulness or mood swings
• Depression
• Epilepsy

DIAGNOSIS-

The doctor will carry out a physical and neurological examination, ask about symptoms, and consider the person’s medical history.

No single test can confirm a diagnosis, so a doctor will use several strategies when deciding whether a person meets the criteria for a diagnosis.

These include:

• MRI scans of the brain and spinal cord, which may reveal lesions
• spinal fluid analysis, which may identify antibodies that suggest a previous infection
• an evoked potential test, which measures electrical activity in response to stimuli

Other conditions have symptoms that are similar to those of MS, so a doctor may suggest other tests to assess for other possible causes.

If the doctor diagnoses MS, they will need to identify what type it is and whether it is active or not. The person may need more tests in the future to assess for further changes.

There is no cure for MS, but treatment is available that can:

• slow the progression and reduce the number and severity of relapses
• relieve symptoms

Some people also use complementary and alternative therapies, but research does not always confirm the usefulness of these.

Medications to slow progression

Several disease-modifying therapies (DMTs) have approval from the Food and Drug Administration (FDA) for the relapsing forms of MS. These work by changing the way the immune system functions.

A doctor may give some of these by mouth, some by injection, and some as an infusion. How often the person needs to take them and whether or not they can do this at home will depend on the drug.

The following DMTs currently have approval:

Injectable medications

• interferon beta 1-a (Avonex and Rebif)
• interferon beta-1b (Betaseron and Extavia)
• glatiramer acetate: (Copaxone and Glatopa)
• peginterferon beta-1a) (Plegridy)

Oral medications

• teriflunomide (Aubagio)
• fingolimod (Gilenya)
• dimethyl fumarate (Tecfidera)
• mavenclad (cladribine)
• mayzent (siponimod)

Infused medications

• alemtuzumab (Lemtrada)
• mitoxantrone (Novantrone)
• ocrelizumab (Ocrevus)
• natalizumab (Tysabri)

Current guidelines recommend using these drugs from the early stages, as there is a good chance that they can slow the progression of MS, especially if the person takes them when symptoms are not yet severe.

Some drugs are more useful at specific stages. For example, a doctor may prescribe mitoxantrone at a later, more severe stage of MS.

A doctor will monitor how well a drug is working, as there may be adverse effects, and the same drugs do not suit everyone. New drug options coming onto the market are proving to be safer and more effective than some existing ones.

Adverse effects of immunosuppressant drugs include a higher risk of infections. Some medications may also harm the liver.

If a person notices adverse effects or if their symptoms get worse, they should seek medical advice.

Medications for relieving symptoms during a flare

Other drugs are useful when a person experiences a worsening of symptoms, during a flare. They will not need these drugs all the time.

Corticosteroids: These reduce inflammation and suppress the immune system. They can treat an acute flare-up of symptoms in certain types of MS. Examples include Solu-Medrol (methylprednisolone) and Deltasone (prednisone). Steroids can have adverse effects if a person uses them too often, and they are not likely to provide any long-term benefit.

Behavioral changes: If vision problems occur, a doctor may recommend resting the eyes from time to time or limiting screen time. A person with MS may need to learn to rest when fatigue sets in and to pace themselves so they can complete activities.

Problems with mobility and balance: Physical therapy and walking devices, such as a cane, may help. The drug dalfampridine (Ampyra) may also prove useful.

Tremor: A person may use assistive devices or attach weights to the limbs to reduce shaking. Medications may also help with tremors.

Fatigue: Getting enough rest and avoiding heat can help. Physical and occupational therapy can help teach people more comfortable ways to do things. Assistive devices, such as a mobility scooter, can help conserve energy. Medication or counseling may help boost energy by improving sleep.

Pain: A doctor may prescribe anticonvulsant or antispasmodic drugs or alcohol injections to relieve trigeminal neuralgia, a sharp pain that affects the face. Pain relief medication, such as gabapentin, may help with body pain. There are also medications to relieve muscle pain and cramping in MS.

Bladder and bowel problems: Some medications and dietary changes can help resolve these.

Depression: A doctor may prescribe a selective serotonin reuptake inhibitor (SSRI), as these are less likely to cause fatigue than other antidepressant drugs.

Cognitive changes: Donepezil, a drug for Alzheimer’s, may help some people.

Complementary and alternative therapies

The following may help with different aspects of MS:

• heat and massage treatment for pain
• acupuncture for pain and gait
• stress management to boost mood
• exercise to maintain strength and flexibility, reduce stiffness, and boost mood
• a healthful diet with plenty of fresh fruits, vegetables, and fiber
• quitting or avoiding smoking

Medical marijuana

Studies have suggested that cannabis may help relieve pain, muscle stiffness, and insomnia. However, there is not enough evidence to confirm this.

People should also note that:

• There is a difference between using street cannabis and medical cannabis.
• Not all forms of cannabis are legal in all states.

A person should ask their doctor for advice before using cannabis, as some forms can have adverse effects. Smoking cannabis is unlikely to be beneficial, and it may make symptoms worse.

Rehabilitation and physical therapy

Physical therapy can help with strength and flexibility.

Rehabilitation can help improve or maintain a person’s ability to perform effectively at home and work.

Programs generally include:

Physical therapy: This aims to provide the skills to maintain and restore maximum movement and functional ability.

Occupational therapy: The therapeutic use of work, self-care, and play may help maintain mental and physical function.

Speech and swallowing therapy: A speech and language therapist will carry out specialized training for those who need it.

Cognitive rehabilitation: This helps people manage specific problems in thinking and perception.

Vocational rehabilitation: This helps a person whose life has changed with MS to make career plans, learn job skills, get and keep a job.

Plasma exchange

Plasma exchange involves withdrawing blood from the individual, removing the plasma, replacing it with new plasma, and transfusing it back into the person.

This process removes the antibodies in the blood that are attacking parts of the person’s body, but whether it can help people with MS is unclear. Studies have produced mixed results.

Plasma exchange is usually only suitable for severe MS attacks.

Stem cell therapy

Scientists are looking into the use of stem cell therapy to regenerate various body cells and restore function to those who have lost it due to a health condition.

Researchers hope that one day, stem cell therapy techniques may be able to reverse the damage done by MS and restore functionality in the nervous system.

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INTRODUCTION –

Ankylosing spondylitis is an inflammatory disease that, over time, can cause some of the small bones in your spine (vertebrae) to fuse. This fusing makes the spine less flexible and can result in a hunched-forward posture. If ribs are affected, it can be difficult to breathe deeply.

Ankylosing spondylitis affects men more often than women. Signs and symptoms typically begin in early adulthood. Inflammation also can occur in other parts of your body — most commonly, your eyes.

There is no cure for ankylosing spondylitis, but treatments can lessen your symptoms and possibly slow progression of the disease.

Ankylosing spondylitis (AS) is a rare type of arthritis that causes pain and stiffness in your spine. This lifelong condition, also known as Bechterew disease, usually starts in your lower back. It can spread up to your neck or damage joints in other parts of your body.

“Ankylosis” means fused bones or other hard tissue. “Spondylitis” means inflammation in your spinal bones, or vertebrae. Severe cases can leave your spine hunched.

There’s no cure for AS. But medication and exercise can ease pain and help keep your back strong.

Ankylosing spondylitis (pronounced ank-kih-low-sing spon-dill-eye-tiss),  or AS, is a form of arthritis that primarily affects the spine, although other joints can become involved. It causes inflammation of the spinal joints (vertebrae) that can lead to severe, chronic pain and discomfort.

In more advanced cases this inflammation can lead to ankylosis — new bone formation in the spine — causing sections of the spine to fuse in a fixed, immobile position.

AS can also cause inflammation, pain, and stiffness in other areas of the body such as the shoulders, hips, ribs, heels, and small joints of the hands and feet. Sometimes the eyes can become involved (known as iritis or uveitis), and — rarely — the lungs and heart can be affected.

The hallmark feature of ankylosing spondylitis is the involvement of the sacroiliac (SI) joints during the progression of the disease. The SI joints are located at the base of the spine, where the spine joins the pelvis.

CAUSES-

Ankylosing spondylitis has no known specific cause, though genetic factors seem to be involved. In particular, people who have a gene called HLA-B27 are at a greatly increased risk of developing ankylosing spondylitis. However, only some people with the gene develop the condition.

Although the exact cause of AS is unknown, we do know that genetics play a key role in the disease. Most individuals who have AS also have a gene that produces a “genetic marker,” a protein called HLA-B27. This marker is found in more than 95 percent of people in the Caucasian population with AS. It is important to note, however, that one does not have to be HLA-B27 positive to have AS. Also, a majority of people with this marker never develop ankylosing spondylitis.

Scientists suspect that other genes — along with a triggering environmental factor such as a bacterial infection, for example — are needed to activate AS in susceptible people. HLA-B27 likely accounts for about 30 percent of the overall risk, but there are numerous other genes working in concert with HLA-B27. Researchers have identified more than 60 genes that are associated with AS and related diseases. Among the newer key genes identified are ERAP 1, IL-12, IL-17, and IL-23.

One classic hypothesis has been that AS may start when the defenses of the intestines break down and certain bacteria pass into the bloodstream, triggering changes in the immune response.

The association between ankylosing spondylitis and HLA-B27 varies greatly between ethnic and racial groups.

SYMPTOM-

Early signs and symptoms of ankylosing spondylitis might include pain and stiffness in your lower back and hips, especially in the morning and after periods of inactivity. Neck pain and fatigue also are common. Over time, symptoms might worsen, improve or stop at irregular intervals.

The areas most commonly affected are:

• The joint between the base of your spine and your pelvis
• The vertebrae in your lower back
• The places where your tendons and ligaments attach to bones, mainly in your spine, but sometimes along the back of your heel
• The cartilage between your breastbone and ribs
• Your hip and shoulder joints

When to see a doctor

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Seek medical attention if you have low back or buttock pain that came on slowly, is worse in the morning or awakens you from your sleep in the second half of the night — particularly if this pain improves with exercise and worsens with rest. See an eye specialist immediately if you develop a painful red eye, severe light sensitivity or blurred vision.

RISK FACTOR –

Certain things that you can’t control might raise your risk of AS:

• Sex. Men are more likely than women to have AS, and it strikes them earlier and harder. Women tend to have a milder form of AS called non-radiographic axial spondyloarthritis.
• Age. AS often starts in your teens and young adulthood. About 80% of cases begin before the person turns 30, and 95% by age 45.

• Testing positive for the HLA-B27 marker
• A family history of AS
• Frequent gastrointestinal infections
• Unlike other forms of arthritis and rheumatic diseases, general onset of AS commonly occurs in younger people, between the ages of 17 and 45. However, it can also affect children and those who are much older.

The Centers for Disease Control and Prevention’s NHANES study now estimates that at least 2.7 million adults in the United States have axial spondyloarthritis.

COMPLICATION-

In severe ankylosing spondylitis, new bone forms as part of the body’s attempt to heal. This new bone gradually bridges the gap between vertebrae and eventually fuses sections of vertebrae. Those parts of your spine become stiff and inflexible. Fusion can also stiffen your rib cage, restricting your lung capacity and function.

Other complications might include:

• Eye inflammation (uveitis). One of the most common complications of ankylosing spondylitis, uveitis can cause rapid-onset eye pain, sensitivity to light and blurred vision. See your doctor right away if you develop these symptoms.
• Compression fractures. Some people’s bones thin during the early stages of ankylosing spondylitis. Weakened vertebrae can crumble, increasing the severity of your stooped posture. Vertebral fractures can put pressure on and possibly injure the spinal cord and the nerves that pass through the spine.
• Heart problems. Ankylosing spondylitis can cause problems with your aorta, the largest artery in your body. The inflamed aorta can enlarge to the point that it distorts the shape of the aortic valve in the heart, which impairs its function.

DIAGNOSIS-

A rheumatologist is commonly the type of physician who will diagnose ankylosing spondylitis (AS), since they are doctors who are specially trained in diagnosing and treating disorders that affect the joints, muscles, tendons, ligaments, connective tissue, and bones. A thorough physical exam, including X-rays, individual medical history, and a family history of AS, as well as blood work (including a test for HLA-B27) are factors in making a diagnosis.

AS can be tough to spot because so many people have back pain, its main symptom. A diagnosis may be even trickier for women because the condition is much more common in men.

There’s also no single test to confirm AS. Your doctor may rely on your symptoms, a physical exam, and blood tests.

You also might have an X-ray or an MRI. But this doesn’t always help, because joint damage may not show up right away on imaging tests.

TREATMENT-

Medications help some people. But staying active is one of the keys to managing AS.

Exercise. The less you sit or lie down, the better you’ll feel. Exercise helps you stand straighter and keeps your spine limber. Staying active may even banish your pain without medication.

Physical therapy. You’ll need to practice good posture, learn how to stretch tight muscles and keep your spine stable, and use other techniques that can lower your pain. You can do them at home, but most people benefit more from working with a professional physical therapist or with a group.

Medication

Prescription nonsteroidal anti-inflammatory drugs (NSAIDs) like indomethacin (Indocin) help most people who have AS. But they can lead to stomach bleeding, heart problems, and other side effects.

If your condition is severe, your doctor may have you try stronger medications like biologics. These are made with things like proteins. But they may cause serious side effects, including infection.

Ankylosing Spondylitis Lifestyle and Home Remedies

Some things you do every day can help you feel better.

• Make time to exercise every day, even a few minutes at a time. Working out in water helps a lot of people who have AS.
• Keep a healthy weight so your joints aren’t under as much stress. A diet high in omega-3 fatty acids might help. Watch for patterns if you think certain foods might trigger changes in how you feel.
• Don’t smoke. People who smoke tobacco often have symptoms that get worse as they get older.
• Manage stress with things like massage, yoga, meditation, and counseling.
• Apply heat to stiff joints and tight muscles, and use cold on inflamed areas.

PROGNOSIS-

The severity of AS varies greatly from person to person, and not everyone will experience the most serious complications or have spinal fusion. Some may experience only intermittent back pain and discomfort, while others may experience severe pain and stiffness over multiple areas of the body for long periods of time. AS can be debilitating and, in some cases, lead to disability.

Almost all cases of AS are characterized by acute, painful episodes (also known as “flares”), which are followed by temporary periods of remission when symptoms subside.

It is important to know that ankylosing spondylitis is a chronic, or lifelong, disease and that the severity of AS has nothing to do with age or gender. It can be just as severe in women and children as in men.

Remember that even if you have AS and are experiencing only mild symptoms, which you are able to manage well, it is important to see your rheumatologist once a year in order to detect and treat any underlying complications.

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Epidemiology

• There is a strong female predilection in adults, with women affected 9-13 times more than males. In children, this ratio is reversed, and males are affected two to three times more often.
• Can affect any age group – the peak age at onset around the 2nd to 4th decades, with 65% of patients presenting between the ages of 16 and 65 years (i.e. during childbearing years).
• Disease is more common in childbearing age in women however it has been well reported in the pediatric and elderly population. SLE is more severe in children while in the elderly, it tends to be more insidious onset and has more pulmonary involvement and serositis and less Raynaud’s, malar rash, nephritis, and neuropsychiatric complications
• Studies have indicated that although rare, lupus in men tends to be more severe.
• Prevalence varies according to ethnicity with ratios as high as 1:500 to 1:1000 in Afro-Caribbeans and indigenous Australians, down to 1:2000 in Caucasians.

How can systemic lupus erythematosus affect pregnancy or the newborn?

Lupus pregnancy deserves special review because it presents unique challenges. Pregnant women with SLE are considered high-risk pregnancies. These pregnancies require interactive monitoring generally by a skilled rheumatologist together with an obstetrician expert in high-risk pregnancies. Women with SLE who are pregnant require close observation during pregnancy, delivery, and the postpartum period. This includes fetal monitoring by the obstetrician during later pregnancy. These women can have an increased risk of miscarriages (spontaneous abortions) and can have flares of SLE during pregnancy. The presence of phospholipid antibodies, such as cardiolipin antibodies or lupus anticoagulant, in the blood can identify people at risk for miscarriages. Cardiolipin antibodies are associated with a tendency toward blood clotting. Women with SLE who have cardiolipin antibodies or lupus anticoagulant may need blood-thinning medications (aspirin with or without heparin) during pregnancy to prevent miscarriages. Other reported treatments include the use of intravenous gamma globulin for selected people with histories of premature miscarriage and those with low blood-clotting elements (platelets) during pregnancy.

Lupus antibodies can be transferred from the mother to the fetus and result in lupus illness in the newborn (“neonatal lupus”). This includes the development of low red cell counts (hemolytic anemia) and/or white blood cell counts (leucopenia) and platelet counts (thrombocytopenia) and skin rash. Problems can also develop in the electrical system of the baby’s heart (congenital heart block). Occasionally, a pacemaker for the baby’s heart is needed in this setting. Neonatal lupus and congenital heart block are more common in newborns of mothers with SLE who carry specific antibodies referred to as anti-Ro (or anti-SSA) and anti-La (or anti-SSB). (It is helpful for the newborn baby’s doctor to be made aware if the mother is known to carry these antibodies, even prior to delivery. The risk of heart block is 2%; the risk of neonatal lupus is 5%.) Neonatal lupus usually clears after 6 months of age, as the mother’s antibodies are slowly metabolized by the baby.

PROGNOSIS-

Overall, the outlook for people living with systemic lupus is improving each decade with the development of more accurate monitoring tests and treatments.

The role of the immune system in causing diseases is becoming better understood through research. This knowledge will be applied to design safer and more effective treatment methods. For example, completely revising the immune system of people with extremely aggressive treatments that virtually temporarily wipe out the immune system is being evaluated. Current studies involve immune eradication with or without replacement of cells that can reestablish the immune system (stem-cell transplantation).

It should be noted that people with SLE are at a somewhat increased risk for developing cancer. The cancer risk is most dramatic for blood cancers, such as leukemia and lymphoma, but is also increased for breast cancer. This risk probably relates, in part, to the altered immune system that is characteristic of SLE.

Women with SLE appear to be at increased risk for heart disease (coronary artery disease) according to recent reports. Women with SLE should be evaluated and counseled to minimize risk factors for heart disease, such as elevated blood cholesterol, quitting smoking, high blood pressure, and obesity.

Landmark research has shown clearly that oral contraceptives do not increase the rate of flares of systemic lupus erythematosus. This important finding is opposite to what has been thought for years. Now we can reassure women with lupus that if they take birth-control pills, they are not increasing their risk for lupus flares. Note: Women who are at increased risk of blood clotting, such as women with lupus who have phospholipid antibodies (including cardiolipin antibody and lupus anticoagulant), should avoid birth-control pills or any estrogen medications.

Individuals living with SLE can improve their long-term prognosis by learning about the many aspects of the illness as well as closely monitoring their own health with their doctors.

TREATMENT-

No cure for SLE exists. The goal of treatment is to ease symptoms. Treatment can vary depending on how severe your symptoms are and which parts of your body SLE affects. The treatments may include:

• anti-inflammatory medications for joint pain and stiffness, such as these options available online
• steroid creams for rashes
• corticosteroids to minimize the immune response
• antimalarial drugs for skin and joint problems
• disease modifying drugs or targeted immune system agents for more severe cases

Talk with your doctor about your diet and lifestyle habits. Your doctor might recommend eating or avoiding certain foods and minimizing stress to reduce the likelihood of triggering symptoms. You might need to have screenings for osteoporosis since steroids can thin your bones. Your doctor may also recommend preventive care, such as immunizations that are safe for people with autoimmune diseases and cardiac screenings,

PHYSICAL THERAPY FOR S.L.E.

Exercise is beneficial for patients with SLE because it decreases their muscle weakness while simultaneously increases their muscle endurance. Physical therapists can play an important role for patients with SLE during and between exacerbations.  The patient’s need for physical therapy will vary greatly depending on the systems involved.   

• Education: It is essential for patients with skin lesions to have appropriate education on the best way to care for their skin and to ensure they do not experience additional skin breakdown.  
• Aerobic Exercise:  One of the most common impairments that patients with SLE experience is generalized fatigue that can limit their activities throughout the day.  Graded aerobic exercise programs are more successful than relaxation techniques in decreasing the fatigue levels of patients with SLE.  Aerobic activity causes many with SLE to feel much better.  The aerobic exercise program may consisted of 30-50 minutes of aerobic activity (walking/swimming/cycling) with a heart rate corresponding to 60% of the patient’s peak oxygen consumption.  Both aerobic exercise and range of motion/muscle strengthening exercises can increase the energy level, cardiovascular fitness, functional status, and muscle strength in patients with SLE (aerobic exercise for 20-30 minutes at 70-80% of their maximum heart rate,3 times a week for 50 minutes sessions).
• Energy Conservation: Physical therapists can educate patients on appropriate energy conservation techniques and the best ways to protect joints that are susceptible to damage.  
• Additionally, physical therapists and patients with SLE should be aware of signs and symptoms that suggest a progression of SLE including those associated with avascular necrosis, kidney involvement, and neurological involvement.

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INTRODUCTION-

Systemic lupus erythematosus (SLE), is the most common type of lupus. SLE is an autoimmune disease in which the immune system attacks its own tissues, causing widespread inflammation and tissue damage in the affected organs. It can affect the joints, skin, brain, lungs, kidneys, and blood vessels. There is no cure for lupus, but medical interventions and lifestyle changes can help control it.

The immune system normally fights off dangerous infections and bacteria to keep the body healthy. An autoimmune disease occurs when the immune system attacks the body because it confuses it for something foreign. There are many autoimmune diseases, including systemic lupus erythematosus (SLE).

The term lupus has been used to identify a number of immune diseases that have similar clinical presentations and laboratory features, but SLE is the most common type of lupus. People are often referring to SLE when they say lupus.

SLE is a chronic disease that can have phases of worsening symptoms that alternate with periods of mild symptoms. Most people with SLE are able to live a normal life with treatment.

According to the Lupus Foundation of America, at least 1.5 million Americans are living with diagnosed lupus. The foundation believes that the number of people who actually have the condition is much higher and that many cases go undiagnosed.Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by antibodies to nuclear and cytoplasmic antigens, multisystem inflammation, protean clinical manifestations, and a relapsing and remitting course. More than 90% of cases of SLE occur in women, frequently starting at childbearing age. See the image below.

CAUSES-

The exact cause of SLE isn’t known, but several factors have been associated with the disease.

Genetics

The disease isn’t linked to a certain gene, but people with lupus often have family members with other autoimmune conditions.

Environment

Environmental triggers can include:

• ultraviolet rays
• certain medications
• viruses
• physical or emotional stress
• trauma

Sex and hormones

SLE affects women more than men. Women also may experience more severe symptoms during pregnancy and with their menstrual periods. Both of these observations have led some medical professionals to believe that the female hormone estrogen may play a role in causing SLE. However, more research is still needed to prove this theory.

DIAGNOSIS-

Your doctor will do a physical exam to check for typical signs and symptoms of lupus, including:

• sun sensitivity rashes, such as a malar or butterfly rash
• mucous membrane ulcers, which may occur in the mouth or nose
• arthritis, which is swelling or tenderness of the small joints of the hands, feet, knees, and wrists
• hair loss
• hair thinning
• signs of cardiac or lung involvement, such as murmurs, rubs, or irregular heartbeats

No one single test is diagnostic for SLE, but screenings that can help your doctor come to an informed diagnosis include:

• blood tests, such as antibody tests and a complete blood count
• a urinalysis
• a chest X-ray

Your doctor might refer you to a rheumatologist, which is a doctor who specializes in treating joint and soft tissue disorders and autoimmune diseases.

Lupus is a chronic disease with no cure. This means that you can manage it with treatment, but it will not go away. Treatment can help improve your symptoms, prevent flares, and prevent other health problems often caused by lupus. Your treatment will depend on your symptoms and needs.

Lupus can be hard to diagnose because it has many symptoms that are often mistaken for symptoms of other diseases. Many people have lupus for a while before they find out they have it. If you have symptoms of lupus, tell your doctor right away.

No single test can tell if a person has lupus. But your doctor can find out if you have lupus in other ways, including:

• Medical history. Tell your doctor about your symptoms and other problems. Keep track of your symptoms by writing them down when they happen. Also, track how long they last.
• Family history of lupus or other autoimmune diseases. Tell your doctor if lupus or other autoimmune diseases run in your family.
• Complete physical exam. Your doctor will look for rashes and other signs that something is wrong.
• Blood and urine tests. The antinuclear antibody (ANA) test can show if your immune system is more likely to make the autoantibodies of lupus. Most people with lupus test positive for ANA. But, a positive ANA does not always mean you have lupus. If you test positive for ANA, your doctor will likely order more tests for antibodies that are specific to systemic lupus erythematosus (SLE).
• Skin or kidney biopsy. A biopsy is a minor surgery to remove a sample of tissue. The tissue is then viewed under a microscope. Skin and kidney tissue looked at in this way can show signs of an autoimmune disease.

Your doctor may use any or all of these tests to make your diagnosis. They also can help your doctor rule out other diseases that can be confused with lupus.

SIGNS AND SYMPTOM-

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Symptoms of systemic lupus erythematosus (SLE, often referred to as simply lupus) can be quite different, because there are different types of lupus, and not all affected people show the same symptoms.

General symptoms associated with lupus include

• low-grade fever,
• loss of appetite,
• nausea,
• muscle aches,
• joint pains,
• fatigue.

More specific symptoms include skin changes (see below), ulcers of the mouth and nose, photosensitivity (sensitivity to sunlight), and decreased circulation to the fingers and toes with cold exposure.

Complications of organ involvement can lead to further symptoms that depend on the organ affected and severity of the disease.

SLE-associated skin manifestations can sometimes lead to scarring. In discoid lupus, only the skin is typically involved. The skin rash in discoid lupus often is found on the face and scalp. It usually is red and may have raised borders. Discoid lupus rashes are usually painless and do not itch, but scarring can cause permanent hair loss (alopecia). Over time, 5%-10% of those with discoid lupus may develop SLE.

Over half of the people with SLE develop a characteristic red, flat facial rash over the bridge of their nose. Because of its shape, it is frequently referred to as the “butterfly rash” of SLE. The rash is painless and does not itch. The facial rash, along with inflammation in other organs, can be precipitated or worsened by exposure to sunlight, a condition called photosensitivity. This photosensitivity can be accompanied by worsening of inflammation throughout the body, called a “flare” of the disease.

Typically, with treatment, this rash can heal without permanent scarring.

Most SLE patients will develop arthritis during the course of their illness. Arthritis from SLE commonly involves swelling, pain, stiffness, and even deformity of the small joints of the hands, wrists, and feet. Sometimes, the arthritis of SLE can mimic that of rheumatoid arthritis (another autoimmune disease).

More serious organ involvement with inflammation occurs in the brain, liver, and kidneys. White blood cells can be decreased in SLE (referred to as leukopenia or leucopenia). Also, low blood-clotting factors called platelets (thrombocytopenia) can be caused by lupus. Leukopenia can increase the risk of infection, and thrombocytopenia can increase the risk of bleeding. Low red blood cell counts (hemolytic anemia) can occur.

Inflammation of muscles (myositis) can cause muscle pain and weakness. This can lead to elevations of muscle enzyme levels in the blood.

Inflammation of blood vessels (vasculitis) that supply oxygen to tissues can cause isolated injury to a nerve, the skin, or an internal organ. The blood vessels are composed of arteries that pass oxygen-rich blood to the tissues of the body and veins that return oxygen-depleted blood from the tissues to the lungs. Vasculitis is characterized by inflammation with damage to the walls of various blood vessels.

he damage blocks the circulation of blood through the vessels and can cause injury to the tissues that are supplied with oxygen by these vessels.

Inflammation of the lining of the lungs (pleuritis) with pain aggravated by deep breathing (pleurisy) and of the heart (pericarditis) can cause sharp chest pain. The chest pain is aggravated by coughing, deep breathing, and certain changes in body position. The heart muscle itself rarely can become inflamed (carditis). It has also been shown that young women with SLE have a significantly increased risk of heart attacks due to coronary artery disease.

Kidney inflammation in SLE (lupus nephritis) can cause leakage of protein into the urine, fluid retention, high blood pressure, and even kidney failure. This can lead to further fatigue and swelling (edema) of the legs and feet. With kidney failure, machines are needed to cleanse the blood of accumulated waste products in a process called dialysis.

Involvement of the brain can cause personality changes, thought disorders (psychosis), seizures, and even coma. Lupus of the nervous system (neurologic lupus) can lead to damage to nerves cause numbness, tingling, and weakness of the involved body parts or extremities. Brain involvement is referred to as lupus cerebritis.

Many people with SLE experience hair loss (alopecia). Often, this occurs simultaneously with an increase in the activity of their disease. The hair loss can be patchy or diffuse and appear to be more like hair thinning.

Some people with SLE have Raynaud’s phenomenon. Raynaud’s phenomenon causes the blood vessels of the hands and feet to spasm, especially upon exposure to cold. The blood supply to the fingers and/or toes then becomes compromised, causing blanching, whitish and/or bluish discoloration, and pain and numbness in the exposed fingers and toes.

Other diseases and conditions that can accompany lupus include fibromyalgia, coronary heart disease, nonbacterial valvular heart disease, pancreatitis, esophagus disease with difficulty swallowing (dysphagia), swollen lymph nodes (lymphadenopathy), liver disease (lupoid hepatitis), infections, and a tendency to spontaneous blood clotting and thrombosis.

Recognizing potential symptoms of SLE

Symptoms can vary and can change over time. Common symptoms include:

• severe fatigue
• joint pain
• joint swelling
• headaches
• a rash on the cheeks and nose, which is called a “butterfly rash”
• hair loss
• anemia
• blood-clotting problems
• fingers turning white or blue and tingling when cold, which is known as Raynaud’s phenomenon

Other symptoms depend on the part of the body the disease is attacking, such as the digestive tract, the heart, or the skin.

Lupus symptoms are also symptoms of many other diseases, which makes diagnosis tricky. If you have any of these symptoms, see your doctor. Your doctor can run tests to gather the information needed to make an accurate diagnosis.

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RISK FACTORS-

The precise reason for the abnormal autoimmunity that causes lupus is not known. Inherited genes, viruses, ultraviolet light, and certain medications may all play some role.

Lupus is not caused by an infectious microorganism and is not contagious from one person to another.

Genetic factors increase the tendency of developing autoimmune diseases, and autoimmune diseases such as lupus, rheumatoid arthritis, and autoimmune thyroid disorders are more common among relatives of people with lupus than the general population. Moreover, it is possible to have more than one autoimmune disease in the same individual. Therefore, “overlap” syndromes of lupus and rheumatoid arthritis, or lupus and scleroderma, etc., can occur.

Some scientists believe that the immune system in lupus is more easily stimulated by external factors like viruses or ultraviolet light. Sometimes, symptoms of lupus can be precipitated or aggravated by only a brief period of sun exposure.

It also is known that some women with systemic lupus erythematosus can experience worsening of their symptoms prior to their menstrual periods. This phenomenon, together with the female predominance of systemic lupus erythematosus, suggests that female hormones play an important role in the expression of SLE. This hormonal relationship is an active area of ongoing study by scientists.

Research has demonstrated evidence that a key enzyme’s failure to dispose of dying cells may contribute the development of systemic lupus erythematosus. The enzyme, DNase1, normally eliminates what is called “garbage DNA” and other cellular debris by chopping them into tiny fragments for easier disposal. Researchers turned off the DNase1 gene in mice. The mice appeared healthy at birth, but after six to eight months, the majority of mice without DNase1 showed signs of systemic lupus erythematosus. Thus, a genetic mutation in a gene that could disrupt the body’s cellular waste disposal may be involved in the initiation of systemic lupus erythematosus.

COMPLICATION-

Over time, SLE can damage or cause complications in systems throughout your body. Possible complications may include:

• blood clots and inflammation of blood vessels or vasculitis
• inflammation of the heart, or pericarditis
• a heart attack
• a stroke
• memory changes
• behavioral changes
• seizures
• inflammation of lung tissue and the lining of the lung, or pleuritis
• kidney inflammation
• decreased kidney function
• kidney failure

SLE can have serious negative effects on your body during pregnancy. It can lead to pregnancy complications and even miscarriage. Talk with your doctor about ways to reduce the risk of complications.

DRUG INDUCED LUPUS-

Dozens of medications have been reported to trigger SLE. However, more than 90% of cases of “drug-induced lupus” occurs as a side effect of one of the following six drugs: hydralazine (Apresoline) is used for high blood pressure; quinidine (Quinidine Gluconate, Quinidine Sulfate) and procainamide (Pronestyl; Procan-SR; Procanbid) are used for abnormal heart rhythms; phenytoin (Dilantin) is used for epilepsy; isoniazid (Nydrazid, Laniazid) is used for tuberculosis; and d-penicillamine (used for rheumatoid arthritis.

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INTRODUCTION-

Rickets is a childhood bone condition wherein the bones soften and become prone to fractures and irregularities. The main cause of rickets is a lack of vitamin D, but people can also inherit a certain type of rickets.

Rickets is a skeletal disorder that’s caused by a lack of vitamin D, calcium, or phosphate. These nutrients are important for the development of strong, healthy bones. People with rickets may have weak and soft bones, stunted growth, and, in severe cases, skeletal deformities.

Vitamin D helps your body absorb calcium and phosphate from your intestines. You can get vitamin D from various food products, including milk, eggs, and fish. Your body also produces the vitamin when you’re exposed to sunlight.

A vitamin D deficiency makes it difficult for your body to maintain sufficient levels of calcium and phosphate. When this occurs, your body produces hormones that cause calcium and phosphate to be released from your bones. When your bones lack these minerals, they become weak and soft.

Rickets is most common in children who are between 6 and 36 months old. Children are at the highest risk of rickets because they’re still growing. Children might not get enough vitamin D if they live in a region with little sunlight, follow a vegetarian diet, or don’t drink milk products. In some cases, the condition is hereditary.

Rickets is rare in the United States. Rickets used to be more common, but it mostly disappeared in developed countries during the 1940s due to the introduction of fortified foods, such as cereals with added vitamin D.

Rickets is the softening and weakening of bones in children, usually because of an extreme and prolonged vitamin D deficiency. Rare inherited problems also can cause rickets.

Vitamin D helps your child’s body absorb calcium and phosphorus from food. Not enough vitamin D makes it difficult to maintain proper calcium and phosphorus levels in bones, which can cause rickets.

Adding vitamin D or calcium to the diet generally corrects the bone problems associated with rickets. When rickets is due to another underlying medical problem, your child may need additional medications or other treatment. Some skeletal deformities caused by rickets may require corrective surgery.

Rare inherited disorders related to low levels of phosphorus, the other mineral component in bone, may require other medications.

Rickets is rare in populations whose governments require certain foods to have added vitamin D. However, there are concerns that the number of cases has risen in the United States since 2000.

Vitamin D plays a vital role in calcium absorption, so very low vitamin D levels can lead to low calcium levels.

As a result, developing bones can become weak and may form irregularly. People may also experience bone pain. The resulting symptoms can persist into adulthood. A severe vitamin D deficiency in adulthood can lead to osteomalacia, which is similar to rickets.

A vitamin D deficiency may result from a low dietary intake of vitamin D or low exposure to or absorption of ultraviolet (UV) rays. This means that children who spend a lot of time indoors may be at risk of vitamin D deficiency and rickets.

Rickets can also result from some metabolic and genetic conditions.

Taking vitamin D supplements may help protect those at risk.

CAUSES-

There are several causes of rickets, including:

Lack of vitamin D

The human body needs vitamin D to absorb calcium from the intestines. UV rays from sunlight help the skin cells convert a precursor of vitamin D from an inactive to an active state.

Children who don’t get enough vitamin D from these two sources can develop a deficiency:

• Sunlight. Your child’s skin produces vitamin D when it’s exposed to sunlight. But children in developed countries tend to spend less time outdoors. They’re also more likely to use sunscreen, which blocks the sun’s rays that trigger the skin’s production of vitamin D.
• Food. Fish oil, egg yolks and fatty fish such as salmon and mackerel contain vitamin D. Vitamin D has also been added to some foods and beverages, such as milk, cereal and some fruit juices.

If a person does not make or consume enough vitamin D, their body may not absorb sufficient calcium from the food they eat, causing low levels of calcium in the blood.

Low calcium levels result in irregularities of the bones and teeth, as well as nerve and muscle problems.

Children may lack vitamin D if they:

• have dark skin
• spend a lot of time indoors
• always wear sunscreen when outside
• follow a lactose-free or strict plant-based diet
• have a health condition such as celiac disease, which prevents the body from making or using vitamin D
• live in a place with high levels of air pollution

Regarding infants, the Centers for Disease Control and Prevention (CDC) note that breast milk does not provide enough vitamin D. According to the CDC, the American Academy of Pediatrics recommend vitamin D supplements of 400 international units (IU) (10 micrograms [mcg]) for infants who are wholly or partially breastfed. Formula milk tends to be fortified with vitamin D.

Genetic factors

Some types of rickets result from a genetic condition. These may be hereditary.

Hypophosphatemic rickets, for example, is a rare condition in which the kidneys are unable to process phosphate properly. Low levels of phosphate in the blood lead to weak and soft bones.

The most common type affects around 1 in 20,000 newborns.

Genetic factors that affect the body’s ability to use calcium can result in rickets, including those that affect liver, kidney, and intestinal function.

Calcium is also important for bone strength. Find out which foods provide calcium here.

Problems with absorption

Some children are born with or develop medical conditions that affect the way their bodies absorb vitamin D. Some examples include:

• Celiac disease
• Inflammatory bowel disease
• Cystic fibrosis
• Kidney problems

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SYMPTOM-

Signs and symptoms of rickets can include:

• Delayed growth
• Delayed motor skills
• Pain in the spine, pelvis and legs
• Muscle weakness

Because rickets softens the areas of growing tissue at the ends of a child’s bones (growth plates), it can cause skeletal deformities such as:

• Bowed legs or knock knees
• Thickened wrists and ankles
• Breastbone projection

When to see a doctor

Talk to your doctor if your child develops bone pain, muscle weakness or obvious skeletal deformities.

RISK FACTOR-

Factors that can increase a child’s risk of rickets include:

• Dark skin. Dark skin has more of the pigment melanin, which lowers the skin’s ability to produce vitamin D from sunlight.
• Mother’s vitamin D deficiency during pregnancy. A baby born to a mother with severe vitamin D deficiency can be born with signs of rickets or develop them within a few months after birth.
• Northern latitudes. Children who live in geographical locations where there is less sunshine are at higher risk of rickets.
• Premature birth. Babies born before their due dates tend have lower levels of vitamin D because they had less time to receive the vitamin from their mothers in the womb.
• Medications. Certain types of anti-seizure medications and antiretroviral medications, used to treat HIV infections, appear to interfere with the body’s ability to use vitamin D.
• Exclusive breast-feeding. Breast milk doesn’t contain enough vitamin D to prevent rickets. Babies who are exclusively breast-fed should receive vitamin D drops.

Age

Rickets is most common in children who are between 6 and 36 months old. During this time period, children usually experience rapid growth. This is when their bodies need the most calcium and phosphate to strengthen and develop their bones.

Diet

You have a higher risk of developing rickets if you eat a vegetarian diet that doesn’t include fish, eggs, or milk. You’re also at an increased risk if you have trouble digesting milk or have an allergy to milk sugar (lactose). Infants who are only fed breast milk can become deficient in vitamin D as well. Breast milk doesn’t contain enough vitamin D to prevent rickets.

Skin color

Children of African, Pacific Islander, and Middle Eastern descent are at the highest risk for rickets because they have dark skin. Dark skin doesn’t react as strongly to sunlight as lighter skin does, so it produces less vitamin D.

Geographic location

Our bodies produce more vitamin D when they’re exposed to sunshine, so you’re more at risk for rickets if you live in an area with little sunlight. You’re also at a higher risk if you work indoors during daylight hours.

Genes

One form of rickets can be inherited. This means that the disorder is passed down through your genes. This type of rickets, called hereditary rickets, prevents your kidneys from absorbing phosphate.

COMPLICATION-

Left untreated, rickets can lead to:

• Failure to grow
• An abnormally curved spine
• Bone deformities
• Dental defects
• Seizures

DIAGNOSIS-

Your doctor may be able to diagnose rickets by performing a physical examination. They will check for tenderness or pain in the bones by lightly pressing on them. Your doctor may also order certain tests to help make a rickets diagnosis, including:

• blood tests to measure the levels of calcium and phosphate in the blood
• bone X-rays to check for bone deformities

In rare cases, a bone biopsy will be performed. This involves the removal of a very small section of bone, which will be sent to a laboratory for analysis.

PREVENTION-

Exposure to sunlight provides the best source of vitamin D. During most seasons, 10 to 15 minutes of exposure to the sun near midday is enough. However, if you’re dark-skinned, if it’s winter or if you live in northern latitudes, you might not be able to get enough vitamin D from sun exposure.

In addition, because of skin cancer concerns, infants and young children, especially, are warned to avoid direct sun or to always wear sunscreen and protective clothing.

To prevent rickets, make sure your child eats foods that contain vitamin D naturally — fatty fish such as salmon and tuna, fish oil and egg yolks — or that have been fortified with vitamin D, such as:

• Infant formula
• Cereal
• Bread
• Milk, but not foods made from milk, such as some yogurts and cheese
• Orange juice

Check labels to determine the vitamin D content of fortified foods.

If you’re pregnant, ask your doctor about taking vitamin D supplements.

Guidelines recommend that all infants should receive 400 IU a day of vitamin D. Because human milk contains only a small amount of vitamin D, infants who are exclusively breast-fed should receive supplemental vitamin D daily. Some bottle-fed infants may also need vitamin D supplements if they aren’t receiving enough from their formula.

TREATMENT-

Treatment will aim to maximize the individual’s intake of calcium, phosphate, and vitamin D.

Depending on the underlying cause, a doctor will usually prescribe vitamin D supplements.

They may also recommend:

• increasing exposure to sunlight
• making dietary changes
• taking fish oil
• getting more exposure to UVB light
• consuming calcium and phosphorus

Get more information on vitamin D and joint pain here.

Dietary measures

If rickets results from a poor diet, a doctor may prescribe:

• daily calcium and vitamin D supplements
• an annual vitamin D injection (if a person cannot take supplements orally)
• a diet plan that focuses on foods rich in vitamin D

To add vitamin D to the diet, a person can consume:

• eggs
• cod liver oil
• oily fish, such as salmon, tuna, sardines, and swordfish
• vitamin D-fortified foods, such as milk, some juices, many cereals, some brands of margarine, and some soy milk products
• beef liver

Making dietary changes and spending some time outside each day can help prevent rickets in most children.

Treating medical causes

If the cause is genetic, a doctor may prescribe phosphate and calcitriol supplements to reduce bowing in the legs.

If there is an underlying medical cause, such as kidney disease, treating it may help prevent rickets.

PHYSICAL THERAPY FOR RICKETS –

Physical therapists can take a team approach with medical management through patient education on: Foods high in vitamin D; Importance of following medical recommendations for vitamin D intake; Importance of proper sun exposure with risks of overexposure. A study suggests that implementing a fall treatment protocol comprised of a multidisciplinary team of a Family Medicine (FM) physician, an Internal Medicine (IM) physician, a physical therapist, and a Home Health (HH) nurse leads to more consistent care of elderly patients who experience falls. However, there is a need for reviewing and updating the protocol based on outcomes, and subsequent research is required for improvement in the patient care.

There are no direct physical therapy interventions for vitamin D deficiency. Patient will be referred to physical therapy for treatment of impairments that may be a cause of vitamin D deficiency such as decline in muscle strength, decline in physical functioning, or falls prevention. (See Clinical Presentation). In these instances techniques could include:

Falls prevention training eg Otago program, and falls exercise classes

General muscle strengthening exercises

In older adults, there is a blunted responsiveness to resistance training and reduced muscle hypertrophy compared with younger adults. There is evidence that both exercise training and vitamin D supplementation may benefit musculoskeletal health in older adults, and it is plausible that in combination their effects may be additive. Vitamin D deficiency is associated with impaired muscle strength and performance in community-dwelling older people.

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