Spina Bifida Lecture Notes PDF

Introduction to Spina bifida PTY224 LEC 5.1 BY: DR.DRAGANA DJURIC Objectives ▪Describe SB, epidemiology & aetiology ▪ Problems and medical/surgical management of SB ▪Complications of SB ▪Assessment and outcome measures ▪Key features of physiotherapy management of client with SB (Infancy, adolescen...

Introduction to Spina bifida PTY224 LEC 5.1 BY: DR.DRAGANA DJURIC Objectives ▪Describe SB, epidemiology & aetiology ▪ Problems and medical/surgical management of SB ▪Complications of SB ▪Assessment and outcome measures ▪Key features of physiotherapy management of client with SB (Infancy, adolescence, adulthood) Spina Bifida definitions ▪Neural tube defect – occurs in embryo ▪Synonyms: ▪Spina bifida ▪Myelomeningocele or meningomyelocele ▪Meningocele  Occurs at around 21 days (as an embryo) Occurs due to failure of closure of the neural tube to form spinal cord and vertebrae. Subsequent abnormal mesodermal (muscle & nervous tissue) development 1.Myelomeningocele ▪Sac containing neural material protrudes through spinal vertebrae. ▪Nerves at level of sac and below sac are affected  2. Meningocele ▪NO neural material in sac ▪Defect contains CSF and meninges only ▪NO CNS dysfunction 3. Spina bifida occulta (‘hidden’) ▪Nonfusion of the halves of the vertebral arches ▪No disturbance of underlying neural tissue ▪May have tuft of hair overlying ▪4-8% incidence in general population Etiology ▪? Genetic (chromosomal abnormalities, racial variation in incidence, risk for siblings 2-3%) ▪? Environmental (? Teratogens – higher incidence in Celts, low incidence in African blacks) ▪? Dietary factors (high maternal alcohol, anti- epileptic meds, low level of maternal folic acid prior to conception) ▪No definitive cause identified ▪Likely to be multifactorial Etiology ▪ Affects 1:1000 pregnancies ▪ Prenatal diagnoses ▪ Able to be detected by ultrasound at 18weeks gestation ▪ Alphafetoprotein levels screening, amniotic fluid analysis ▪ (23% pregnancies where prenatal diagnoses –terminated ) ▪ survival of high SB defects is low in utero, hence tend to see mainly mid to low thoracic and lumbar defects ▪ *trauma to neural sac during vaginal delivery, hence tend to elect for C-section as delivery mode Prevention: Folic acid Vitamin- food and supplement Folic acid should be taken daily in the upcoming months before conceiving and also during pregnancy 400 micrograms folic acid tablet every day before you're pregnant and until you're 12 weeks pregnant  Intra-uterine repair ▪Controversy regarding surgical repair of sac in utero ▪May reduce further damage to remaining nerves ▪May reduce cerebral consequences- reduce shunt, Chiari II symptoms ▪Evidence based? Repair of sac in 21/52 fetus  Signs & symptoms ▪Related to the level of the spinal defect ▪ Paralysis distal to the defect (Usually have flaccid paralysis rather than spastic paralysis ) ▪ Sensory loss (may not exactly correlate with motor loss) ▪ Bowel and bladder dysfunction  Bladder & bowel dysfunctions Neurogenic bladder 95%, of patient- innervation of bladder which arise at the sacral level of the spinal cord. Neurogenic bladder- urinary conditions in people who lack bladder control due to a brain, spinal cord or nerve problem Urologist – follow up Training before 7 years- catheterization, self catheterization( intermittent catheterization), - role of nursing Catheterization, self-  Brain signs and symptoms ▪Many patients will have associated brain and brainstem symptoms ▪Cognitive, sensory and perceptual motor function may be impaired ▪Lower IQ than population mean (tho’ this is debated) ▪‘learning disabilities’ 80% Arnold Chiari malformation ▪Associated malformation of brain – tendency for posterior lobes/cerebellum to be located further inferiorly ▪Both the cerebellum and brain stem tissue extend into the foramen magnum (the hole at the skull base for passing of the spinal cord). ▪CNS abnormalities ▪Arnold Chiari malformation is considered to be primary cause of hydrocephalus ▪Subsequent hydrocephalus- abnormal accumulation of CSF Hydrocephalus  PT Assessment ▪Functional level classification systems : Spina Bifida Neurological Scale (SBNS) ▪To determine the motor level, the PT tests the strength of key muscle groups ▪Light touch and pinprick sensation should be reassessed through the use of cotton balls and a sterilized safety pin, respectively, in each dermatomal level ▪Evaluation of ROM should also be completed Outcome measures ▪Battelle Developmental Inventory ▪ Pediatric Evaluation of Disability Inventory (PEDI)- functional skill level, caregiver assistance, and modifications or adaptations used. ▪ WeeFIM -impact of functional impairments for children of preschool and young elementary school age. ▪ 18-item, 7-level scale that assesses a child’s consistent performance in three primary domains (self-care, mobility, and cognition) ▪Spina Bifida Health-Related Quality of Life Musculoskeletal deformities ▪Lacking postural stability and symmetrical alignment ▪Delayed motor development ( sitting at 11 months ) ▪Postural deviations and contracture ▪Scoliosis, kyphosis, lordosis- in children with higher spinal lesion ▪Hip contracture, deformity of femur and acetabulum-1/3 to half of children  Musculoskeletal deformities ▪Torsional deformities -External or internal tibial torsion ▪Knee- Genu Varus, genu Valgus ▪Knee Fl or EX contracture ▪ (Thoracic & High lumbar SB: more than 70% had knee joint contractures) Foot deformities common due to unopposed muscle action around ankle ▪ Calcaneovarus or calcaneovalgus foot due to absence of gastroc/soleus ▪ Talipes equinovarus (clubfoot) due to L4 or L5 lesion ▪ In walking and in non ambulatory patient Orthopaedic deformities on spine, hip, knee and foot ▪Negatively affect ▪ Positioning ▪ Body image ▪ Weight bearing (in sitting and standing) ▪ ADL ▪ Energy expenditure ▪ Mobility from infancy through adulthood Gait defects: ‘crouch standing’ ▪Persistent hip & knee flexion, lumbar lordosis ▪May occur due to muscle weakness eg insufficient soleus strength to maintain tibia vertical ▪May occur due to orthopaedic deformities eg calcaneal valgus resulting in tibial internal rotation & knee flexion ▪Hip & knee flexion contractures may develop ? To walk or not to walk ▪Increasing demand to walk further and faster, changes in social and environmental demands ▪Gait aids may only be suitable indoors ▪Increasing energy expenditure due to heavier body through adolescence ▪Increasing demands on balance due to increased height ▪Development of obesity ▪Reduction in gait due to foot ulcers, subsequent immobility during healing time Medical/surgical management ▪External closure of defect – reduce risk of CNS infection, reduce risk of further damage to spinal nerves 24- 72 hours after delivery ▪ Ventriculoperitoneai (VP) shunt for hydrocephalus ▪Hydrocephalus 80-95% of SB cases (Shaer, 2007) ▪Shunt –in first week of life or in the first 6 month of life ▪Complications: infection, blockage, multiple revision Ventriculo- peritoneal (VP) shunt  Clubfoot ▪ 30–50% of patients. ▪ Conservative management: The Ponseti method -serial manipulation and long-leg casting to gradually correct the clubfoot deformity. ▪Surgery for severe cases: soft-tissue release surgery between 10-12 month of age.  Before: note lumbar scoliosis After surgery: note improved sitting balance  Other Complications ▪Pressure sores ▪ Occur in 85 – 95% of SB by adulthood ▪ Due to pressure from wheelchair, cast or brace; urine/stool soiling causing skin breakdown; friction/shear origin; ▪ Osteoporosis ▪ Fractures due to decreased bone mineral density (no evidence that passive weight bearing will decrease fracture rates) ▪ Latex allergy ▪ 18 – 40% of SB children have allergy (compared to 1-5% of controls) ▪ (latex present in gloves, wheelchair seats & tires, foam lining on splints and braces etc)  Neurological Complications ▪Shunt blockage (drowsy, HA, seizures), VP shunt failure ▪‘tethering’ of cord leading to progression of neurological spinal symptoms – eg onset of upper limb weakness ▪pronounced spasticity, General physical therapy plan of care/goals: ▪Prevent loss of range of motion (ROM) in upper and lower extremities as well as upper extremity overuse injuries; ▪maximize independent functional mobility; ▪optimize health-related quality of life; ▪maximize health and fitness including strength and aerobic capacity Physical therapy interventions: ▪Patient and family education regarding long-term implications of SB and the risks for obesity, osteoporosis, and urinary tract infections; ▪exercises to maintain ROM and improve strength; ▪functional mobility training (transfers, wheeled mobility, ambulation) ▪Precautions during physical therapy: ▪Decreased cardiorespiratory endurance ▪increased risk for fracture secondary to osteoporosis; increased risk for hip dislocation and skin breakdown secondary to decreased sensation; ▪ latex allergy; ▪incontinence during exercise; ▪ difficulties with thermoregulation; increased risk of falls; ▪increased spasticity with exercise  Management- EBP ▪Upper extremity strength training programs increase strength and independent wheelchair mobility in children with spina bifida ▪ Treadmill training improves gait speed and aerobic fitness in ambulatory children with spina bifida Mobility training using braces ▪Hip KAFO ▪RGO ▪KAFO ▪AFO Walker, twisting cable Weight bearing opportunities Gait aids School time ▪Classroom seating and the potential need for adaptive seating or standing devices should be evaluated. ▪Functional transfers including sit-to-stand and floor-to-stand transfers should be assessed. ▪The School Function Assessment (SFA)-assessment of the extent to which the child’s impairments impact school-related tasks such as ▪moving around the classroom and school ▪ interacting with peers and teachers ▪ and using classroom materials. Wheelchairs Spina bifida - adolescence ▪Review mobility needs, energy expenditure and social/environmental goals, ▪Optimise activity to minimise obesity risk ▪Train for self reliance (stretches, pressure care, continence) ▪Mx of ‘over use’ – early degenerative changes in shoulders, other heavily used joints (OA, ligamentous instability) Summary ▪Spina bifida results from a defect in formation of the neural tube in the embryo ▪May present with spinal and brain neurological deficits ▪Associated musculoskeletal deformities ▪At high risk of multiple complications due to effect of abnormal movement upon growing child ▪Need life-long management of condition by physiotherapist and multidisciplinary team References ▪Palisano, R., Orlin, M. Schreiber, J. (2021). Campbell’s Physical Therapy for Children (6 th ed.). Missouri: Elsevier Saunders ▪Mc Keogh, E et al. (2021). Tecklin’s Pediatric physical therapy (6th ed.). Walters Kluwer Health References ▪Oliveira A, Jácome C, Marques A. Physical fitness and exercise training on individuals with spina bifida: a systematic review. Res Dev Disabil. 2014;35:1119–1136. ▪Mahony K, Hunt A, Daley D, Sims S, Adams R. Inter-tester reliability and precision of manual muscle testing and hand-held dynamometry in lower limb muscles of children with spina bifida. Phys Occup Ther Pediatr. 2009;29:44–59. ▪de Groot JF, Takken T, van Brussel M et al.. Randomized controlled study of home-based treadmill training for ambulatory children with spina bifida. Neurorehabil Neural Repair. 2011;25:597–606. References ▪Zwinkels M, Verschuren O, Janssen TW et al.. Exercise training programs to improve hand rim wheelchair propulsion capacity: a systematic review. Clin Rehabil. 2014;28:847–861. ▪http://www.asbha.org.au/ ▪http://www.ninds.nih.gov/disorders/spina_bifida/spina_bifida.ht m