1) Distinguish the epidemiology and pathophysiology of neural tube defects
2) Identify the common sensorimotor deficits and associated comorbidities of myelomeningocele
3) Identify and help physical therapists choose optimal treatment interventions for children with myelomeningocele
CASE A, PART I
Dylan is a 15-year-old male with myelomeningocele. His birth history includes myelomeningocele identification from an ultrasound at 20 weeks of gestation. He was born via scheduled C-section at 38 weeks gestational age. He had postnatal surgery to close the lesion 24 hours later, and during surgery, the highest lesion level identified was L1/L2; he had a second surgery to implant a ventriculo-peritoneal shunt at 3 weeks of age. He wore a Pavlik harness for his first 6 months of life for bilateral hip dysplasia. He has had multiple episodes of physical therapy care throughout his lifetime. Dylan does not ambulate, but wore braces up to the age of 6 to facilitate standing and home ambulation with a walker. Currently, he is s/p spinal fusion for scoliosis and has restrictions, including no flexion of his trunk and no pushing or pulling with his arms; he has been fitted with a thoracolumbosacral orthosis (TLSO) to prevent trunk flexion during recovery. Dylan is unable to push or pull with his legs. His ankle ROM is lacking 5 degrees bilaterally and 20+ degrees of hip flexion contractures were corrected as part of his scoliosis surgery. In the past year, he has also had an increased weight gain of 30 pounds, and now weighs 150. Dylan will be starting high school in 2 months. He is currently in a manual wheelchair that he has had for 2 years. His current chair is too small, and he cannot propel it with the restrictions from the surgery. Right now his mom pushes him in the manual chair, and in school, a student peer is pushing him from one class to another.
To understand Dylan, we will start with a discussion of neural tube defects, including spina bifida and myelomeningocele. In clinical practice, the terms spina bifida and myelomeningocele are often used interchangeably; however, they actually refer to related congenital defects. Spina bifida is a defect of closure of the spinous processes of the spinal column; in the case of myelomeningocele, this spinal column defect is associated with a neural tube defect that results in protrusion of neural and spinal tissue outside the spinal column, typically within a dural sac, with secondary nerve damage and paresis below the level of the protrusion. Neural tube defects are not limited to the spinal cord region but can actually occur in any region of the tube, and therefore, can include damage to the brain, brainstem, and spinal cord. In most cases, ultrasounds, taken of the fetus in utero, can visualize the defect and protrusion of spinal elements.
Illustration of meylomeningocele and Arnold–Chiari defects. The spinal defect (myelomeningocele) typically presents ...