Physiotherapy management of spina bifida in children

1. PHYSIOTHERAPY MANAGEMENT OF SPINA BIFIDA
PRESENTED
BY
OLUWADAMILARE JOSHUA AKINWANDE (PT)
AT
PHYSIOTHERAPY DEPARTMENT
IN
STATE HOSPITAL, ABEOKUTA

2. OUTLINES
• Introduction
• Epidemiology
• Pathogenesis
• Etiology
• Classification
• Clinical Features
• Complications
• Screening and Diagnosis
• Medical and Surgical Management
• Rehabilitation/Physiotherapy Management
• Outcome Measures
• Conclusion
• References

3. INTRODUCTION
• Spina bifida (SB) literally means “cleft spine,” (National Institute of Neurological
Disorders and Stroke [NINDS], 2020).
• It is a type of neural defect resulting from incomplete closure of the neural tube
during embryonic development (Ntimbani, Kelly & Lekgwara, 2020).
• It is also regarded as incomplete closure of the posterior components of vertebrae
as a result of a developmental disorder and the clinical presentation that occurs in
concomitance with this condition (Özaras, 2015).

4. EPIDEMIOLOGY
• SB is the most common non-fatal malformation in the spectrum of neural tube
defects and it is the second leading cause of birth defects after congenital heart
defects (Mohd-Zin, Marwan, Abou Chaar, Ahmad-Annular & Abdul-Aziz, 2017).
• There is slightly varying estimates of the prevalence of SB majorly because the
prevalence of neural tube defects is declining in North America and Western
Europe because of dietary fortification and also because of advanced prenatal
diagnosis that is leading to more elective terminations (Fletcher & Brei, 2010).
• Gender preponderance differs according to country (Mohd-Zin et al., 2017).

5. PATHOGENESIS
• The neural plate which develops between the 2nd and 6th weeks in the
embryologic stage usually closes by curving from two edges and forms the neural
tube. While the brain originates from the cranial part of the neural tube, the spinal
cord develops from the caudal part. Distortions which occur during the closure of
the caudal part of the neural tube during this stage causes SB (Özaras, 2015).

6. ETIOLOGY
• SB has a complex etiology which comprises both genetic and environmental
factors (Fletcher & Brei, 2010).
• Genetic factors tend to play a significant role in the etiology of SB. Its incidence is
fifty times greater than that of the general population if the patient has siblings
with the condition. Genetic predisposition has also been demonstrated in twin and
family studies (Özaras, 2015).

7. • Environmental factors also tend to contribute to the development of SB. These
factors include the use of anti-epileptic drugs which affect folate metabolism in
pregnancy, poorly-managed diabetes and inflammatory diseases experienced
during the first three months of pregnancy (Özaras, 2015).

8. CLASSIFICATION OF SPINA BIFIDA
• As a result of the phenotypic variations in the expression of SB, SB is classified
anatomically as:
Spina Bifida Aperta (SBA): This is regarded as an open SB. This classification
presents when neural elements or membranes are exposed via a bony defect
together with a lack of skin covering. The frequent forms of this classification
include myelomeningocele and myelocele (Ntimbani et al., 2020).

9. Spinal Bifida Occulta (SBO): This is regarded as a closed SB. In this
classification, the bony defect is covered by a skin (Ntimbani et al., 2020).
Examples include lipomyelomeningocele and lipomeningocele (Mohd-Zin et al.,
2017).

10. CLINICAL FEATURES
• The clinical features depend on the form(type) of the SB that a fetus/baby presents
with.
Meningocele: This is characterized by the protrusion of a fluid-filled sac (devoid
of neural matter) through a bony defect present at the site of lesion. This form may
be covered by skin or may not (Mohd-Zin et al., 2017).

11. Myelomeningocele: This is characterized by the protrusion of the spinal cord and
nerves (neural matter) from the spinal canal through a bony defect into a fluid-
filled sac devoid of overlying skin (Mohd-Zin et al., 2017).
Myelocele: This is a form of SB in which the neural matter protrudes through the
spinal canal without overlying sac and skin (Mohd-Zin et al., 2017).

12. PICTORIAL ILLUSTRATION OF FORMS OF SPINA BIFIDA
IMAGE CREDIT :Özaras, 2015.

13. PICTORIAL ILLUSTRATION OF FORMS OF SPINA BIFIDA
IMAGE CREDIT: Mohd-Zin et al., 2017 ; Ntimbani et al., 2020 .

14. • SBO forms have features such as dysplastic skin, tufts of hair (hairy patch) and
vestigial tail. These forms include;
Lipomeningocele : A closed SB in which lipid globules are present in the
meninges being overlaid by skin at the lesion site (Mohd-Zin et al., 2017).
Lipomyelomeningocele : A closed SB in which the spinal cord is intermeshed with
lipid globules at the site of lesion (Mohd-Zin et al., 2017).

15. PICTORIAL ILLUSTRATION OF FORMS OF SPINA BIFIDA
IMAGE CREDIT: Mohd-Zin et al., 2017

16. COMPLICATIONS OF SPINA BIFIDA
• These can range from minor physical problems with little functional impairment to
severe physical and mental disabilities. It has been realized that the higher the site
of lesion, the greater the amount of nerve damage and loss of muscle function and
sensation occurs below the level of lesion (NINDS, 2020).
• Individuals with myelomeningocele often present with motor and sensory
neurological deficits below the level of the lesion. Neurogenic bladder and bowel,
Arnold-Chiari type II malformation and the consequent hydrocephalus are often
associated with this form of SB (Copp et al., 2015).

17. • Forms of occulta tend to be asymptomatic (Fletcher & Brei, 2010).
• Secondary motor neuron findings such as reduced deep tendon reflexes, muscle
weakness and hypoesthesia/anesthesia are generally observed in SB.
• Spinal disorders such as kyphosis and scoliosis, hip dislocation, contractures in
the hip and knee, ankle and foot deformities are commonly observed as
orthopedic complications of SB (Özaras, 2015).

18. SCREENING AND DIAGNOSIS
• Maternal serum alpha-fetoprotein screening (MSAFP) can be carried out to check
for elevated level of alpha- fetoprotein (AFP) in the maternal serum during
pregnancy so as to ascertain whether there is neural tube defect or not.
• Amniocentesis can also be carried out to check for elevated level of AFP in the
amniotic fluid surrounding the fetus (Copp et al., 2015).

19. • Owing to the observation that elevated level of AFP is often associated with neural
tube defects, a positive MSAFP and/or amniocentesis is an indication of likely
open SB. This can be confirmed and diagnosed prenatally by carrying out fetal
ultrasonography which usually reveals the defect through the examination of the
fetal spine (Copp et al., 2015).
• SBO is usually not detected by prenatal diagnosis (Fletcher & Brei, 2010).

20. MEDICAL AND SURGICAL MANAGEMENT
• The medical management of individuals with SB is best provided through regular
assessments by a multidisciplinary team, directed by a physician who is
knowledgeable in the care of children with SB, and including a coordinator with
responsibility for the patient follow-up (Copp et al., 2015).
• Fetal surgery has been implemented in a number of specialized centers with
encouraging outcomes (Copp et al., 2015).
• Neonatal surgical closure of the lesion is considered the standard of care against
which all new management options are compared (Mohd-Zin et al., 2017).

21. REHABILITATION/ PHYSIOTHERAPY MANAGEMENT
• The aim of rehabilitation in persons with SB is to improve the quality of life and
independence level of the individuals. The rehabilitation process begins from the
neonatal period and lasts a lifetime.
• Because the people who will be with such individuals and care for them majorly
are their family members , rehabilitation must be family centered and must be
planned taking the features of the family into consideration (Özaras, 2015).

22. • As a result of the various complications that can affect such persons, a
rehabilitation program should be conducted by a team consisting of various health
workers such as specialist physicians from related branches, physiotherapists,
occupational therapists, speech therapists, nurses and clinical psychologists
(Özaras, 2015).
• The exercise regimen of persons with SB should be organized according to the age
and clinical state of the persons. In infants, developmental milestones such as
sitting and standing ought to be followed and early ambulation should be provided
with exercises and orthosis (Özaras, 2015).

23. • A passive range of motion exercises for the joints of the lower extremities
constitutes the base of exercise programs so as to prevent contractures thereby
enhancing independent locomotion of such individuals (Schoenmakers, Uiterwaal,
Gulmans, Gooskens & Helders, 2005).
• For the joints whose tendency to contracture is high due to muscle imbalance,
stretching exercises should be added to the exercise regimen; if necessary,
positioning orthosis and casting should also be applied (Al-Oraib, Tariah &
Alanazi, 2013).
• The strengthening of weak muscles and improving endurance in easily-fatigued
region(s) should be incorporated into the exercise program (Özaras, 2015).

24. • Because osteoporosis is a complication that can be encountered by persons with
SB (particular, those with high level lesions), weight-bearing exercises can be
suggested as a treatment option (Özaras, 2015).
• Pressure sores can cause serious medical disturbances. Therefore, persons with SB
and their caregivers/family members should be taught pressure-relieving
technique/positioning that can help to prevent/minimize such sores (Özaras, 2015).
• The use of an appropriate orthosis provides improvements in locomotion for non-
ambulatory patients and in parameters such as energy consumption, walking speed
and step length for ambulatory patients (Katz-Leurer, Weber, Smerling-Kerem,
Rottem & Meyer, 2004).

25. OUTCOME MEASURES
• Pediatric Evaluation of Disability Inventory
• Gross Motor Function Measure
• Gross Motor Function Classification System
• Functional Mobility Scale
• Functional Independence Measure for Children.

26. CONCLUSION
• The aim of rehabilitation/physiotherapy in persons with SB is to prevent/minimize
complications and improve functional independence as much as possible.
• Researches (Aizawa et al., 2017 ; Karmel-Ross, Cooperman & Van Doren, 1992 ;
; Özaras, 2015 ; ) have revealed that physiotherapy helps to improve mobility and
functional independence in children with SB.

27. REFERENCES
 Aizawa, C. Y. P., Morales, M. P., Lundberg, C., Soares de Moura, M. C. D., Pinto, F. C.
G., Voos, M. C., & Hasue, R. H. (2017). Conventional physical therapy and physical
therapy based on reflex stimulation showed similar results in children with
meningocele. Arq Neuropsiquiatr, 75(3), 160-166.
 Al-Oraibi, S., Tariah, H. A., & Alanazi, A. (2013). Serial casting versus stretching
technique to treat knee flexion contracture in children with spina bifida: A comparative
study. J Pediatr Rehabil Med, 6, 147-53.
 Copp, A. J., Adzick, N. S., Chitty, L. S., Fletcher, J. M., Holmbeck, G. N., & Shaw, G.
M. (2015). Spina bifida. Nat Rev Dis Primers, 1, 15007. doi:10.1038/nrdp.2015.7.
 Fletcher, J. M., & Brei, T. J. (2010). Introduction: Spina bifida – a multidisciplinary
perspective. Dev Disabil Res Rev, 16(1), 1–5. doi:10.1002/ddrr.101.

28.  Karmel-Ross, K., Cooperman, D. R., & Van Doren, C. L. (1992). The effect of
electrical stimulation on quadriceps femoris muscle torque in children with spina
bifida. Phys Ther, 72, 723-30.
 Katz-Leurer, M., Weber, C., Smerling-Kerem, J., Rottem, H., & Meyer, S. (2004).
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 Mohd-Zin, S. I., Marwan, A. I., Abou Chaar, M. K., Ahmad-Annular, A., & Abdul-
Aziz, N. M. (2017). Spina bifida : Pathogenesis, mechanisms, and genes in mice and
humans. Hindawi Scientifica, 2017, ID 5364827, 2.
• National Institute of Neurological Disorders and Stroke. (2020). Spina bifida fact
sheet. Retrieved from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-
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29.  Ntimbani, J., Kelly, A., & Lekgwara, P. (2020). Myelomeningocele: A literature
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