27- Spina Bifida.pdf

Myelodysplasia (Spina Bifida) Anwar Almutairi, PT, PhD PT411 - PT Procedures (Neurology) 2023 Objectives • Describe the pathophysiology of Spina Bifida and its different types • Identify the manifestation of each Spina Bifida motor level • Exemplify the co-morbidities on children with Spina Bifid...

Myelodysplasia (Spina Bifida) Anwar Almutairi, PT, PhD PT411 - PT Procedures (Neurology) 2023 Objectives • Describe the pathophysiology of Spina Bifida and its different types • Identify the manifestation of each Spina Bifida motor level • Exemplify the co-morbidities on children with Spina Bifida • Describe the medical and physical therapy management of children with Spina Bifida; assign the appropriate assistive device to a child with Spina Bifida Normally, the neural tube starts closing on day 21 and completes closing on day 28 Spina bifida Types of Myelodysplasia A. Occulta (10% In L5 or S1; no paralysis- Hair tuft) B. Meningocele (skin covered – no paralysis) C. Meningomyelocele (MM; May or may not be skin covered; will cause paralysis) D. Myeloschisis (skin not covered; spinal cord exposed) Meningomyelocele (MM) • May be associated with genetic abnormalities such as Trisomy 13, 18 and 21 • Prevalence: varies among races and regions • Potential Causes/ Risk Factors • • • • Alcohol intake (also will have Fetal Alcohol Syndrome) Anticonvulsants (valproic acid or carbamazepine) Maternal pre-gestational IDDM Maternal BMI of > 29 • Folic acid supplement (0.4 – 4 mg/day) • Dose depends on family history of MM • Begin 3 months before conception Meningomyelocele (MM) … Cont’d • Diagnosed at 18 weeks • Maternal serum alpha-fetoprotein (> 2.5 MoM)- will not detect skin covered lesions • Ultrasound to determine cranial malformations (Chiari II) • Amniotic fluid analysis • C-Section birth: less risk for infection and damage to neural sac. Management of Myelomeningocele Study (MOMS): In-Utero repair of the MM Sac • Less need for shunting • Reversal of hindbrain herniation – Chiari Malformation • Greater likelihood to walk without devices • Motor function 2 or more levels better than expected by anatomic level • Increased risks of spontaneous rupture of membrane, premature delivery, oligohydramnios (deficiency of amniotic fluid) Musculoskeletal Deformity • • • • • • • • • • Forward head Rounded shoulders Kyphosis Scoliosis Excessive Lordosis Anterior pelvic tilt Rotational deformities of the hip or tibia Flexed hips/knees Pronated feet Incidence of fracture – 11-30% - reduce bone mineral density Hip Dysplasia, Subluxation, Dislocation [Appropriate to ambulate if good ROM & level pelvis] Talipes equinovarus (TEV) (requires surgery) Calcaneal Valgus Motor Level • The lowest intact, functional neuromuscular segment • Example: L4 level indicates that the 4th lumbar nerve and myotome it innervates are functioning, whereas segments below L4 are not intact. • International Myelodysplasia Study Group Criteria for Assigning Motor Levels International Myelodysplasia Study Group Criteria for Assigning Motor Levels High Level Lesions (Thoracic to L2) • Typical presentation: Hip flexion, abduction, external rotation contracture  Measure hip extension in prone to protect spine Knee flexion contracture Ankle plantar flexor contracture Lordosis of the lumbar spine Scoliosis (90% have it) The Newest Classification for Children with MMC (Dias et al, 2021) Parapodium High Lumbar (L1-L2) • Weak hip movements • Can do short distance household ambulation using KAFO’s or RGO’s & upper limb support • Wheelchair for community distances • 50% achieve independent living status but difficult to maintain competitive employment as adults. L1 Weak iliopsoas muscle (grade 2) L1-L2 Exceeds criteria for L1, but does not meet L2 criteria L2 Iliopsoas, Sartorius, and hip adductors all grade 3 or better RGO Reciprocating gait orthosis (RGO) Mid to Low Lumbar Lesions (L3-L5) • Typical MS presentation: Hip/Knee flexion contractures Increased lumbar lordosis Scoliosis (40% mid lumbar and 10% of lower lumbar have it) Genu and calcaneal valgum Pronated feet when bearing weight Walk with pronounced crouch gait  Bear weight primarily on their calcaneus • L3: Require KAFO’s and crutches for household and some community ambulation Wheelchair for longer distances 60% achieve independent living status as adults • L4: Functional ambulation with AFO’s and forearm crutches. Wheelchairs for long distances When first learning to walk, may need KAFO’s and walker 20% continue to ambulate as adults Ground reaction AFO’s • L5 Able to ambulate without orthoses yet require them to correct foot alignment and substitute for lack of push-off. Gluteal lurch is evident unless upper limb support is used. Upper limb support recommended for community ambulation to decrease energy expenditure, protect legs and for safety. Wheelchair (or bike) is useful for long distances 80% achieve independent living status as adults Sacral Lesions • Mild hip/knee flexion contractures • Increased lumbar lordosis • Ankle/foot either in varus or valgus + pronated or supinated forefoot • Mild crouch gait • Bear weight on calcaneus unless plantar flexor muscles are at least 3/5 • S1 Can walk without orthoses or upper limb support Weak push-off when running or climbing stairs Mild to moderate gluteal lurch May use FO or AFO to improve foot alignment  S2: Decreased push off and stride length  S2-S3: no obvious deficits  No loss: no bowel or bladder dysfunction Sensory Deficits • Often do not correlate with motor level • May skip levels – important to test all dermatomes and multiple sites within a dermatome (older kids) o Light touch or pinprick, vibration o Also test proprioception o Educate on importance of protecting their skin and body o Pressure relief Co-morbidities: Hydrocephalus • Occurs in 25% or more of kids born with MM, then 60% develop it after closure of the back lesion. • Can also affect cognition • 80-90% require a CSF shunt • Ventriculoperitoneal catheter shunts fluid from the ventricles to the peritoneal space where CSF is reabsorbed.  Can become infected or obstructed  Shut dysfunction symptoms are gradual Early Signs of Shunt Dysfunction Remember These! Co-morbidities: Chiari Malformation • Also known as Chiari II malformation • It is a deformity of the cerebellum, medulla, and cervical spinal cord; the posterior cerebellum herniated downward through the foramen magnum, with brainstem structures also displaced in the caudal direction. • Children with Spina Bifida and Chiari II and 90% more likely to develop hydrocephalus. • Surgical Management: posterior fossa decompression & cervical spinal laminectomy to relive pressure on the brainstem and cervical spinal structures Other Issues 1. Cognitive dysfunction is related to the severity of hydrocephalus, CNS infections, Chiari malformations • e.g. “cocktail party personality” – verbose but with excessive & inappropriate use of jargon and clichés (common with hydrocephalus) 2. Language dysfunction can occur 3. Latex allergy in 73% of kids with MM (no balloons or gloves) 4. Upper limb dyscoordination secondary to: o Cerebellar ataxia due to Chiari II syndrome o Motor cortex or pyramidal tract damage secondary to the hydrocephalus o Motor learning deficits resulting from the use of the upper limbs for balance and support rather than manipulation and exploration Other Issues … Cont’d 6. Spasticity (9%) & Seizures (10-30%) 7. Neurogenic bowel o Only 5% of kids with MM develop voluntary bladder/bowel control o S2 to S4 is not functioning o Incontinence, constipation, impaction o Need to go on a bowel program, successful if there is presence of a cutaneous reflex 8. Neurogenic bladder  Clean intermittent catheterization on a regular schedule 9. Skin breakdown and Obesity Assessment • Baseline biomechanical assessment • Baseline strength assessment (older children) • Assess functional activities in the developmental sequence • Head & trunk control • Mobility (rolling, prone, sitting, quadruped, standing) • Based on motor level, prepare family for equipment needs • Educate! • Refer to OT and ST (if needed) • Set goals (e.g. Canadian Occupational Performance Measure [COPM]) PT Treatment • Focus on reaching age-appropriate developmental millstones • Passive ROM- should start early to avoid contractures and deformities • Positioning and handling- especially post-operative care! – the child will be restricted to prone and side-lying positions • Strengthening exercises- using body weight initially → using external weights Treatment of spinal deformities • Goal: Maintain a balanced trunk and pelvis • Orthotic intervention: bivalve Silastic TLSO • Surgical fusion after the age of 10 yo to avoid truncal shortening • 10-11 yo in girls • 12-13 yo in boys • Now have growing systems so can do the surgery at younger ages Standing Programs to Improve Bone Mineral Density • 5 days per week for 60-90 min/day • May positively affect bone mineral density and ROM (Paleg et al., 2013)