SPINAL DYSRAPHISM (PART2)

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Differential Diagnosis

• Sacrococcygeal teratomas
• Benign teratomas
• Subcutaneous lipomas
• Lymphangiomas
• Cystic teratomas
• Spinal epidural abscess
• Spinal cord masses
• Pilonidal cyst
• Inclusion dermoid
• Caudal regression syndrome

Assessment

Initial assessment of the newborn is extremely important, preferably both by a pediatrician and a neurosurgeon. Examination of head and neck involves the assessment of head size, shape, skull bones, and openness of fontanelles, lacunar skull defects and the size of the posterior fossa. Examination of the back needs assessment of the neural placode, level of the lesion, condition of the skin, extent of skin defect and associated deformities. Examination of the lower limbs for detection of the deformities of the foot and abnormalities of long bones is important. A detailed neurological examination is necessary to assess the level of motor weakness, sensory level and sphincter dysfunction.

Prenatal diagnosis

Prenatal screening for neurological abnormalities is based on ultrasound performed routinely or oriented by maternal Alpha Feto Protein (AFP) screening. It should be performed around 12, 22 and 32 weeks. Maternal serum screening can detect up to 80% cases of spina bifida and 90% cases of anencephaly. Sonography may identify up to 90% cases of myelomeningoceles. Over the last few decades, the diffusion of routine ultrasound has changed the spectrum of the neonatal neurological malformations. Gross lethal abnormalities nearly always result in termination of pregnancy, depending on the regional law system. A growing number of more subtle abnormalities including midline or posterior fossa abnormalities are being discovered. But their postnatal outcome cannot always be predicted accurately, despite the use of fetal MRI. Maternal serum screening for chromosomal abnormalities is also increasingly used. Only in select situations, amniocentesis is contributory.

Complications

Bladder dysfunction: Most patients with myelomeningocele have some degree of bladder incontinence. Preventive goals are directed toward preventing infection with the implementation of bladder drainage utilizing intermittent catheterization or indwelling catheters. Bladder stimulation has shown to improve bladder emptying and reduce infection.  

Bowel dysfunction: Myelomeningocele is associated with anal sphincter dysfunction that results in bowel incontinence. Assisted bowel emptying reduces barriers associated with social activities, including attending school and personal relationships.

Immobility: Most myelomeningocele patients have significant weakness, which results in severe ambulation deficits or paraplegia. Bracing using external orthosis can help to maximize their mobility and ensure a near-normal developmental progression. In children over 1-year-old, utilizing a standing frame can reduce the risk of osteoporosis and the formation of contractures in lower extremities. A wheelchair can provide mobility for older children and adults.

Infections: Due to a neurogenic bladder, many have urine colonization and infections. Shunts are also prone to infections. When shunts are placed, infections can occur superficially at the skin or intraabdominal, as many of these patients have multiple abdominal procedures.

Management

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Management of these children needs multidisciplinary approaches. Complete clinical evaluation and appropriate investigations are necessary. Parents need to be counseled and informed regarding the immediate as well as long-term management strategy.

Surgical treatment

The aim of surgery is to free the placode from the surrounding abnormal skin and reposition into the spinal canal with reconstruction of the dura and coverings to prevent CSF leak and infection. The surgical technique depends on the size and the level of the lesion. The help of pediatric, orthopedic and plastic surgeons may be necessary. Several attempts for maternal fetal surgeries to improve their outcomes have been made. The role of fetal surgery for myelomeningocele is yet to be proven.

Timing of intervention primarily depends on the clinical condition of the child and the impending risks. Surgery need not be done as a compelling emergency but should be undertaken as soon as it is practical. In case of suspected meningitis or CSF infection or colonization of the wound, prophylactic antibiotics and anticonvulsants form the initial treatment. Child is nursed in an incubator; routine blood counts and serum electrolytes are monitored. Blood grouping and cross matching is done for possible transfusion. Careful assessment of body weight is essential for intraoperative management. The newborn child with myelomeningocele should have saline dressings. It is essential not to use corrosive agents, spirit or antiseptics indiscriminately over the open defects to avoid damage to the underlying exposed neural tissue.

Surgical technique

To obtain successful repair, it is essential to study the surface anatomy and its relationships to the surrounding structures. At the apex of the myelomeningocele usually, the flat neural placode is located and from its edge the remnants of the arachnoid membrane get attached at the nerve root entry zone. From this junction, the nerve roots emerge and exit through neural foramina located ventrally. They are seen through the transparent arachnoid membrane which is fused with the skin at the lateral edges of the lesion. The dura matter which is defective posteriorly is loosely adherent to the underlying soft tissue of the back and densely adherent to the bony structures underneath. Rostrally, the dura forms tube and the neural placode continues into it, which leads to functional spinal cord.

Medical Management

Medical management of the newly born child with Spina Bifida varies according to the severity of their condition. Those with Spina Bifida Occulta do not ususally require any specific treatment. Some people with Spina Bifida Occulta do not exhibit any symptoms and may only discover they have the condition when they are older after having an XRAY. Children born with myelocoele or myelomeningocoele will require surgery normally within 2-3 days of birth in order to close the gap in the spine and return the spinal cord and nerves to their original place within the spinal column. This aims to prevent infection and further damage to the exposed spinal cord and spinal nerves. Following surgery, the child will be monitored closely for signs of common pos-operative problems associated with this type of surgery, namely hydrocephalus and leaking of cerebrospinal fluid

As the infant gets older, management of incontinence will be an important role of the medical team. Effective management strategies include the use of Clean Intermittent Catheterisation (CIC) and certain drugs which can increase the storage volume of the bladder . Children can also develop constipation due to lack of bowel movements and will require the development of a bowel programme which may involve assisted evacuation of stools. However, this will be based on an individualised assessment of the child and may involve educating the family in order to ensure the programme is effectively integrated into the child’s daily routine Effective strategies in managing incontinence in children with spina bifida are extremely important in allowing them to socially integrate themselves as they get older and attend school . The management of spina bifida varies depending on the degree the individual is affected with the disease. with acquired brain injury. A cross-sectional study (August 2020) by a multidisciplinary team describing health issues and living conditions in a cohort of adults living with Spina bifida suggests the presence of a higher prevalence of urinary and faecal incontinence, pain, and overweight in adults with Spina Bifida. Persons with the condition greater than 46 years had less complicated medical conditions, better physical and cognitive functions, and higher education, independent living, and participation in society, whereas individuals < 46 years had more secondary conditions such as hydrocephalus, Chiari II malformation, tethered cord symptoms, and latex allergy. 

pina Bifida Occulta:

• There is generally no medical treatment required

Spina Bifida Meningocele:

• Surgery is often performed early after birth, but the severity of deficits after surgery depends on if there is neural tissue in the sac.  Further treatment is similar to the management listed below for myelomeningocele.

Spina Bifida Myelomeningocele:

• Generally, surgery follows within the first few days of life to close the spinal cord defect. It is crucial during this time period prior to surgery to protect the nerves that are exposed in the protruding sac. It is also important to prevent infection and additional trauma to the exposed tissues.
  
• Additional surgeries may be required to manage other problems in the feet, hips, or spine. The individuals with hydrocephalus will also require subsequent surgeries due to the shunt needing to be replaced.
  
• The level of malformation of the spinal cord and subsequent neurological defects will influence the individual’s ability to ambulate. Assistive devices may be necessary to aid the individual around the community.
  
• Due to the bowel and bladder problems that are often caused by the neural tube defect, a bowel and bladder program may be necessary. This may include catheterization or a strict bowel and bladder regimen to remain regular.
  
• The MOMS study is a trial that was done to look at the effectiveness of having fetal surgery to fix the malformation of the fetus’s spine prior to birth in comparison to waiting until after the child is born to have the surgery.  The idea behind it was that neurological function tends to decrease as pregnancy progresses, so by performing the surgery in utero the baby would not be exposed to such extensive neurological deficits as it would if the surgery was performed after birth.  However, there is a safety concern for both the mother and the fetus when this fetal surgery is performed.  The success of the MOMS trial has now made fetal surgery a treatment option in some cases.

Neurogenic bladder is a common complication for people with spina bifida. It is normally treated with pharmaceuticals and intermittent catheterization; however for some patients this treatment does not suffice. New research suggests the idea of tissue engineering and neuromodulation.

Tissue engineering is used to generate new tissue to augment the bladder. Two different theories are utilized: unseeded and seeded. Unseeded “involves the incorporation of a scaffold material (synthetic or biologic) into the host organ, which is used as a template for the ingrowth of native cells that then initiate the regenerative process.” Seeded technology is similar to unseeded; however, it adds “cultured cells to the scaffold prior to implantation into the host.”

Neuromodulation modifies the innervation of the bladder so it can potentially function in a normal manner. Neuromodulation includes “non-operative measures such as transurethral electrical bladder stimulation, minimally invasive procedures such as implantation of a sacral neuromodulation pacemaker device, as well as operative measures that reconfigure sacral nerve root anatomy.”

Researchers are still in the early stages of development for this treatment option, however with advancements in technology is could prove to be a promising option for patients with spina bifida.

Physical Therapy Management

The role of the physiotherapist in the early management of children with spina bifida is extremely important as it helps the child to develop an efficient and purposeful movement that can be incorporated into everyday tasks. By optimising and maintaining mobility, this can eventually help children to become more independent as they get older. The physiotherapist will perform an initial assessment of the infants muscle strength and range of movement available at certain joints. This will allow the physiotherapist to determine which muscles are working properly and which ones are weak. This will give them a baseline measurement to use as a comparison as the child grows. This will also allow the physiotherapist to consider what problems the infant may have as they get older and what type of assistive devices or splints they may require when they begin to mobilise. The physiotherapist will specifically be involved in:

Joint Range of Motion

• In the early stages following surgery, the physiotherapist will begin passive range of motion exercises on the infant’s legs  . This will normally be performed 2-3 times a day. They will also demonstrate this technique to parents or carers so that they may continue to do these exercises as a home exercise programme when the infant is discharged. They may progress these exercises to mimic more functional movements which are related to normal everyday movement patterns. For example, whilst bending the left knee and hip, the right side will be kept straight as would happen in a normal walking pattern. These gentle exercises will help to maintain and may help increase the available range of motion available in joints where the movement restriction is mild. In those who have more pronounced restriction, the physiotherapist may advise that the number of exercise repetitions is increased and the movement is held for longer. The ultimate aim of range of motion exercises is to enable the child to learn and perform them independently as they grow up. It is important for the child to continue with these exercises because when they are moving independently, the functioning muscles may not be working through full range of motion. Passive range of motion exercises will therefore help to maintain flexibility and avoid the development of muscle tightenings known as contractures .

Muscle strength

• Altered muscle tone is a common symptom of spina bifida,therefore, physiotherapists use resistance training in order to strengthen these muscles that have been weakened. This is normally introduced when the infant is old enough to self mobilise. The physiotherapist can develop a programme of strength and endurance training which has been seen to improve functional abilities in children with spina bifida. These training programmes may involve a variety of exercises for the upper and lower limbs, as well as muscles of the trunk and can help improve upper limb strength and cardiovascular fitness .

Positioning and Handling

• Following the first few days after surgery, the infant will normally be placed inside or stomach lying. As the infant begins to stabilise and recover from surgery, the physiotherapist will offer advice as to how to hold the newborn child safely. This is incredibly important as the infant will have undergone major surgery which requires careful handling and positioning at all times. It may be advised that parents or carers hold the child underneath the stomach and across their forearm due to the surgical wound that will be present on the infant’s back. This handling technique may be used when sitting or walking around. When advised, parents or carers may take the infant for a walk around the hospital resting over the shoulder. This can encourage the child to begin to lift his or her head and begin to develop head and neck control .

Mobility and Ambulation

• Mobility problems in children with spina bifida can vary according to the level of the spine that has been affected during development . A child with a lesion in the lower back (Lumbar or Sacral levels), is more likely to be able to independently mobilise than one with a lesion in the upper thoracic spine. This can determine whether the child will require a wheelchair, orthotics or assistive devices.
• Parents and carers are often discouraged from using assistive devices such as infant walkers, jumpers and bouncer chairs as these can delay motor development. Infants require active movement and sensory information from the surrounding environment in order to learn how to move efficiently against gravity and maintain erect sitting and standing postures. This is no different for children with Spina Bifida. Infants with spina bifida benefit from movements that challenge control of the head, neck and torso, rather than the use of passive sitting devices or chairs. Active movement allows them to participate in the learning process. For example, rather than using a walker, parents are advised to physically hold their child in the standing position with as little support as possible to promote the necessary control of the legs and torso. This also allows the child to receive feedback from the floor and the surrounding environment .
• As the child begins to mobilise and ambulate more independently, he or she may be fitted for braces or splints to address any deformities caused by muscle imbalance or joint limitations. Orthoses such as braces and splints are supportive devices aimed at optimising existing muscle function and giving support where the child requires it. The earlier these are fitted and provided, the earlier the child will be prepared for the upright position required of standing and walking. It therefore also enhances normal developmental progression and will eventually help the child take part in normal activities of their age group . Children with Spina Bifida lesions in the upper thoracic regions of the spine may require bracing or splinting of the whole leg up to the level of the hip and chest. This is known as a Hip-Knee-Ankle-Foot Orthoses (HKAFO). Others may require orthotics aimed at stabilising the knee, ankle and foot. These are known as Knee-Ankle-Foot orthoses (KAFO) and Ankle-Foot Orthoses (AFO) Reciprocal Gait Orthoses (RGO) may be also provided in order to promote a normal rhythmic walking pattern in the child Children may require the additional use of crutches along with orthoses in order to take some stress off the legs. and standing frames are also used to help children with more severe limitations bear weight through their legs and maintain a full range of motion at all lower limb joints . Furthermore, some children may require casting as a way of treating and preventing contractures. Casting aims to develop a gradual increase in the range of motion available at a certain joint and is a very effective method of improving range of motion at tight joints without the use of surgery . Other children may benefit from the use of a wheelchair, as it can give them more freedom of movement if their walking is limited and strenuous. This can be alternated with the use of orthosis for shorter distances. A wheelchair can also help children keep pace with other able-bodied people, and enable them to participate in recreational activities at school .

Parent/carer education

• Physiotherapy management will eventually be handed over to the parents or carers of the infant. Initially they will be encouraged to observe the physiotherapist carrying out ra ange of motion exercises and handling and positioning strategies before being asked to duplicate these treatments independently. Following these teaching sessions, certain roles will then be handed over to the parents and carers. Following discharge home and as the child begins to mobilise more independently the parents and carers should actively become involved in assessing their child’s progression through observations at home when playing, sitting, crawling etc. This can help with early identification of any differences in the child’s movements or sitting postures between the home and the hospital. It may also allow other possible problems to be identified early on so that a management strategy may be developed. This is essential particularly later on when the child becomes more medically stable, as they will not receive as much medical input and interaction as when the child was a new orn infant in hospital
• The physiotherapist, along with other members of the healthcare team, will be able to offer advice and help parents and carers build confidence in their ability to manage their child’s daily routine

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