Spina Bifida: Physiotherapy in the management of meningomyelocele

Spina bifida is a treatable spinal cord malformation that occurs in varying degrees of severity. Meningomyelocele is associated with abnormal development of the cranial neural tube, which results in several characteristic CNS anomalies. About 90% of babies born with Spina Bifida now live to be adults, about 80% have normal intelligence and about 75% play sports and do other fun activities. Most do well in school, and many play in sports.

1. 25/10/2016 Ayodele Ayobami Emmanuel 1 SPINA BIFIDA: PHYSIOTHERAPY IN THE MANAGEMENT OF MENINGOMYELOCELE  AN END OF PAEDIATRIC POSTING PRESENTATION BY AYODELE, AYOBAMI EMMANUEL Presented at the Department of Physiotherapy University of Abuja Teaching Hospital Gwagwalada , Abuja (October, 2016)

2. CONTENTS INTRODUCTION EMBRYOLOGY/PATHOPHYSIOLOGY EPIDEMIOLOGY AETIOLOGY DIAGNOSIS MANAGEMENT COMPLICATIONS PHYSIOTHERAPY REFERENCES 25/10/2016 Ayodele Ayobami Emmanuel 2

3. INTRODUCTION Spina bifida is a variable defect in which the vertebral arch of the spinal column is either incompletely formed or absent. The term bifida is from the Latin bifidus , or "left in 2 parts ." 1 Classified as a defect of the neural tube (i.e. the embryonic structure that develops into the spinal cord and brain). 1 Neural tube defects have a range of presentations, from stillbirth to incidental radiographic findings of spina bifida occulta . 2 The term myelodysplasia has been used as a synonym for spina bifida . 1 Lesions most commonly occur in the lumbar and sacral regions, but can be found anywhere along the entire length of the spine . 1 25/10/2016 Ayodele Ayobami Emmanuel 3

4. TYPES OF SPINA BIFIDA 25/10/2016 Ayodele Ayobami Emmanuel 4 Spina bifida is a treatable spinal cord malformation that occurs in varying degrees of severity 2 . S pina bifida occulta : It can occur without neurologic defects. Meningocele : A cystic swelling of the dura and arachnoid, protrudes through the spina bifida defect in the vertebral arch. Meningomyelocele : when cord tissue extends into the meningocele . If the spinal cord is exposed on the surface of the back, the condition is called myeloschisis 3 .

5. Types of Spina Bifida 25/10/2016 Ayodele Ayobami Emmanuel 5 Retrieved from www.schn.health.nsw.gov.au

6. Types of Spina Bifida 25/10/2016 Ayodele Ayobami Emmanuel 6

7. EMBRYOLOGY/PATHOPHYSIOLOGY Neural tube defects occur between the 17th and 30th day of gestation 4 . This defect then disrupts all of the overlying tissues, preventing the vertebral arch from closing 4 . If the posterior vertebral arch and overlying tissues do not form normally, the normal spinal cord and meninges may then herniate out through the defect and cause a meningomyelocele (MMC) 2 . If the vertebral arch fails to grow and fuse normally and the spinal cord and meninges are not disturbed, spina bifida occulta results 2 . 25/10/2016 Ayodele Ayobami Emmanuel 7

8. MENINGOMYELOCELE MMC is associated with abnormal development of the cranial neural tube, which results in several characteristic CNS anomalies 2 . The Chiari type II malformation is characterized by cerebellar hypoplasia and varying degrees of caudal displacement of the lower brainstem into the upper cervical canal through the foramen magnum 2 . This deformity impedes the flow and absorption of cerebrospinal fluid (CSF) and causes hydrocephalus, which occurs in more than 90% of infants with MMC 2 . Numerous other associated nervous system malformations include syringomyelia , diastematomyelia , and agenesis of the corpus callosum 2 . Non-neurologic associations include spine malformations, hydronephrosis , cardiac defects, and gastrointestinal anomalies 2 . 25/10/2016 Ayodele Ayobami Emmanuel 8

9. HYDROCEPHALUS 25/10/2016 Ayodele Ayobami Emmanuel 9 Retrieved from: www.mskcc.org

10. A Lumbar Myelomeningocele 25/10/2016 Ayodele Ayobami Emmanuel 10 Retrieved from: emedicine.Medscape.com

11. EPIDEMIOLOGY Variations in incidence between some racial populations . Incidence of MMC in America: 1.1 in 1000 births 5 . The current incidence in America is about 0.6 per 1000, and there is good evidence that this has been steadily declining. African-American cases are often a third of those found for white Americans, while those for Hispanic-Americans are two to three times greater 2 . 1 in 10,000 in Finland; 5 in 1000 in Northern Ireland 5 . At least 2000 cases/year in the US 5 . Nigeria ?? 25/10/2016 Ayodele Ayobami Emmanuel 11

12. STATISTICS 25/10/2016 Ayodele Ayobami Emmanuel 12 YEAR MALE FEMALE 2011 2012 1* 2013 2014 2015 1 2016 (1 st January- 24 th October ) 1 3 TOTAL 3 3 TABLE 1: Meningomeylocele cases at Physiotherapy Department, UATH (2011- 24 th October , 2016) * S pina bifida

13. AETIOLOGY The risk of an adult with MMC having a child with a neural tube defect is 5% 6 . Women with low RBC cell folate levels during early pregnancy have up to a 6 x greater risk of having a child with a neural tube defect 2 . Intrauterine exposure to antiepileptic drugs, particularly valproate and carbamazepine, and to drugs used to induce ovulation 2 . Maternal exposures to fumonisins , EM fields, hazardous waste sites, disinfection by-products found in drinking water, and pesticides 2 . Other risk factors for MMC include maternal obesity, hyperthermia (as a result of maternal fever or febrile illness or the use of saunas, hot tubs, or tanning beds), and maternal diarrhoea 6 . 25/10/2016 Ayodele Ayobami Emmanuel 13

14. DIAGNOSIS 25/10/2016 Ayodele Ayobami Emmanuel 14 Measurement of maternal serum α -fetoprotein (MSAFP) levels is a common screening test. If the level is elevated, indicating that any portion of the foetus is not covered by skin, this screening test is then followed by detailed ultrasonography. U ltrasound will diagnose 92% of neural tube defects 2 . Mothers with elevated MSAFP levels and a normal appearing ultrasound scan may be evaluated by amniocentesis for the presence of elevated acetylcholinesterase levels in the amniotic fluid 2 .

15. MANAGEMENT OF MMC Generally surgery follows within the first few days of life to close the spinal cord defect 2 . 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 . Due to the bowel and bladder problems that are often caused by the neural tube defect, catheterization may be necessary. The MOMS study 8 . 25/10/2016 Ayodele Ayobami Emmanuel 15

16. 25/10/2016 Ayodele Ayobami Emmanuel 16 Retrieved from: hydrocephalus.cfsites.org

17. COMPLICATIONS 25/10/2016 Ayodele Ayobami Emmanuel 17 Common complications of MMC include the following 2 . Reproductive organs impairment N eurogenic Bladder: The vast majority of children with MMC have a neurogenic bladder. Only 5.0% to 7.5% of the MMC population have normal urologic function. N eurogenic Bowel: Traditional bowel continence is present in approximately 10 % of children with MMC. Musculoskeletal complications . Psychosocial issues: Vulnerable child syndrome Pressure sores, Latex allergy, Learning disabilities

18. NEUROSURGICAL COMPLICATIONS 25/10/2016 Ayodele Ayobami Emmanuel 18 Wound infection rates range from 7% to 12 % 2 Hydrocephalus; visual impairment Ventriculitis : low subsequent IQ Shunt failure 5% - 32% of infants with MMC will present with signs of Chiari compression, making it the most common cause of death in patients with MMC 9 . Chiari compression can occur at any time, presentation in the first year of life is associated with up to 50% mortality 9 . Chronic headaches are the most frequently reported symptom 9 .

19. OBESITY 25/10/2016 Ayodele Ayobami Emmanuel 19 Obesity is prevalent in children with MMC. The higher the level of lesion along the spine the higher her percentage of body fat 2 . In children with L1–L3 lesions, the effect of increasing obesity is a critical factor in the loss of ambulation 2 . Typically , children with MMC reach their peak ambulatory abilities around the age of 10 years. They then experience a slow decline in function over the next 10 years 2 . The children who ambulate more have a lower percentage of body fat.

20. PHYSIOTHERAPY INTERVENTION A multidisciplinary approach towards managing patients with MMC is essential for successful outcomes. Patient should be assessed as soon after birth as possible. At different stages the focus of physiotherapy will change with changing needs of the patient. Regular review is essential to meet up with patient needs. Parents and care-givers should be involved in patient care. 25/10/2016 Ayodele Ayobami Emmanuel 20

21. CLINICAL PRESENTATION The following can be observed in a case of MMC 2 . Flaccid or spastic paralysis of the lower limbs Urinary and or faecal incontinence Hydrocephalus Poor trunk control Musculoskeletal complications S coliosis H ip dysplasia H ip dislocation H ip/knee contracture Club foot Muscle atrophy 25/10/2016 Ayodele Ayobami Emmanuel 21

22. PHYSICAL ASSESSMENT Open wound Deformities Skin abnormalities Sensation Muscle tone Muscle strength Range of Motion Contractures Dislocation Developmental Milestones 25/10/2016 Ayodele Ayobami Emmanuel 22

23. PLAN OF TREATMENT 25/10/2016 Ayodele Ayobami Emmanuel 23 Prevent/correct deformity Maintain/improve physiological properties of joints and muscles Monitor normal motor development Educate parent(s), caregivers Encourage and maximise independent mobility Encourage participation in regular physical activity.

24. MEANS OF TREATMENT Serial casting ( CTEV) Passive mobilization, AAEX , FAEX, RAEX, stretches. Tactile stimulation Balance & Trunk control exercises Positioning Orthosis & Assistive devices Parent education: Parents should be educated on the child’s condition, progress and prognosis and involved in treatment planning and home programmes 10 . 25/10/2016 Ayodele Ayobami Emmanuel 24

25. Serial casting for CTEV 25/10/2016 Ayodele Ayobami Emmanuel 25 Retrieved from: www.texasfootdoctor.org

26. Reciprocating gait orthosis (RGO) 25/10/2016 Ayodele Ayobami Emmanuel 26 Retrieved from: 2.bp.blogspot.com

27. Dennis Brown brace 25/10/2016 Ayodele Ayobami Emmanuel 27 Retrieved from: www.wheelsonline.com

28. OUTCOME MEASURE T he functional independence measure (FIM ) is the most widely accepted functional measure. 11 FIM consists of 18 scales scored from 1 to 7; higher numbers mean greater ability . Others include: CHQ, BI. 25/10/2016 Ayodele Ayobami Emmanuel 28

29. CASE PRESENTATION A 2 year old male who presented at the Physiotherapy department on account of inability to stand and walk since birth. Patient had an excision of lumbosacral MMC detected in utero on the day of delivery. Patient had slowly evolving hydrocephalus: OFC at 2months - 42cm; 3months - 49cm; 1 year - 53.5cm; 2years - 54cm Penile retraction and rectal prolapse on defecation B ilateral CTEV: Had weekly serial casting for 6 weeks . Presently on Dennis Brown Splint which is applied nightly. No skin abnormalities observed. Sensation absent at legs and feet. Muscle tone: hypotonia at both lower limbs. ROM: PROM is full and pain-free in all joints except the club feet which are plantigrade . AROM is limited at ankles and feet. Nil contractures. Functional limitations: Pt can’t stand unaided; can’t walk. 25/10/2016 Ayodele Ayobami Emmanuel 29

30. Patient Update Currently being managed as a physiotherapy, neurosurgery, urology and orthopaedic outpatient. Patient has good control of both upper limbs and trunk. Patient can crawl but is yet to stand or walk independently. CTEV: Feet plantigrade but mother not compliant with the use of abduction brace. 25/10/2016 Ayodele Ayobami Emmanuel 30

31. CONCLUSION About 90% of babies born with Spina Bifida now live to be adults, about 80% have normal intelligence and about 75% play sports and do other fun activities 2 . Most do well in school, and many play in sports 2 . 25/10/2016 Ayodele Ayobami Emmanuel 31

32. REFERENCES Lundy-Ekman L (2007). Neuroscience: Fundamentals for Rehabilitation. 3rd edition. St. Louis: Saunders, 2007 . Foster, MR (2016). Medscape Drugs & Diseases - Medscape Reference. Retrieved October 24, 2016, from http://emedicine.medscape.com/article/311113-overview Burke R, Liptak G (2011). Providing a Primary Care Medical Home for Children and Youth with Spina Bifida. American Academy of Pediatrics . 128:1645-1657 Fletcher JM, Copeland K, Frederick JA (2005). Spinal lesion level in spina bifida: a source of neural and cognitive heterogeneity. Journal of Neurosurgery . 102(3 Suppl ):268-79 . Shin M, Besser LM, Siffel C, Kucik JE, Shaw GM, Lu C, Correa A, and the Congenital Anomaly Multistate Prevalence and Collaborative (2010). Prevalence of Spina Bifida Among Children and Adolescents in 10 Regions in the United States. Pediatrics . Canfield MA, Ramadhani TA, Shaw GM (2009). Anencephaly and spina bifida among Hispanics: maternal, sociodemographic , and acculturation factors in the National Birth Defects Prevention Study. Birth Defects Res A Clin Mol Teratol . Jul . 85 (7): 637-46 25/10/2016 Ayodele Ayobami Emmanuel 32

33. REFERENCES Goodman C, Fuller K (2009). Pathology: Implications for Physical Therapy. 3rd edition. St. Louis: Saunders, Tubbs, RS; Chambers, MR; Smyth, MD; Bartolucci , AA; Bruner, JP; Tulipan , N; Oakes, WJ (2003). "Late gestational intrauterine myelomeningocele repair does not improve lower extremity function". Pediatric Neurosurgery. 38 (3): 128–32. McLone DG, Knepper PA (1989). The cause of Chiari II malformations: a unified theory. Pediatric Neuroscience. 15:1-12. Campbell , SK, Linden, DW, Palisano RJ (2000). Physical Therapy for Children (2nd Edition). Philadelphia , PA: W.B. Saunders . McDonnell  GV & McCann  JP (2000). Issues of medical management in adults with spina bifida. Child's Nerv Syst ; 16 : 222−227. 25/10/2016 Ayodele Ayobami Emmanuel 33

34. 25/10/2016 Ayodele Ayobami Emmanuel 34 THANK YOU

35. FUNCTIONAL INDPENDENCE MEASURE 25/10/2016 Ayodele Ayobami Emmanuel 35