Chapter 25 Neural Tube Defects Overview The definition of neural tube defects (NTDs) and subtypes Occurrence and factors associated with development of NTDs The impact of meningomyelocele on body structures, functions, and child’s activities and participation Strategies for intervention, need for multidisciplinary care, and goals for independence https://www.youtube.com/watch?v=wpb-V5adPtY https://www.youtube.com/watch?v=AK0HpLypC9Y Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Types of Neural Tube Defects NTDs: group of malformations of the spinal cord, brain, and vertebrae Three major NTDs are encephalocele, anencephaly, and spina bifida Encephalocele: malformation of the skull, allows portion of brain, usually malformed, to protrude in a sac Anencephaly: malformation of the skull and brain in which no neural development occurs above the brainstem Spina bifida: a split of the vertebral arches Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Meningomyelocele Meningocele: exposed membranous sac covering the spinal cord Meningomyelocele: the exposed membranous sac is associated with the presence of a malformed spinal cord Symptoms can include complete or partial paralysis, sensory loss below the lesion of the spinal abnormality, Chiari type II malformation with hydrocephalus, and neurogenic bowel and bladder Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Prevalence of Neural Tube Defects Varies among countries (genetic and environmental influences) 5 per 10,000 in U.S., 3–4 times higher in Wales/Ireland, much lower in Africa More females than males affected Increases with maternal age and lower socioeconomic status Prevalence of NTDs falling worldwide due to Maternal serum testing to screen prenatally; more than 50% of couples choose to terminate the pregnancy Many countries now enrich flour with folic acid Obstetricians recommend folic acid supplements during pregnancy Survival has increased as a result of improved medical care Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

The Origin of Neural Tube Defects Malformation occurs during neurulation 26 days after fertilization First step in the formation of central nervous system Neural groove does not close completely Causes uncertain, conditions associated with NTDs: Chromosomal disorders Maternal exposure to certain drugs (Depakene, Acutane) Maternal alcohol abuse, exposure to saunas/high fever A few candidate genes identified that increase risk Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Prevention of Neural Tube Defects Using Folic Acid Supplementation Strong link between NTDs and folic acid deficiency Daily supplemental doses of folic acid can reduce occurrence by 50% or more Folate also decreases risk of cleft lip and palate Beginning 1998, certain food staples in U.S. (bread and flour) made with grain fortified with folic acid Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Prenatal Diagnosis Measure levels of alpha-fetoprotein (AFP) during the 16th–18th week of pregnancy High-resolution ultrasound to detect abnormalities of fetal head and back If NTD is suspected after ultrasound, amniocentesis performed Fetal MRI or 3-D ultrasonography may be performed rather than amniocentesis Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Treatment of Meningomyelocele in the Newborn Period First priorities in newborn: Prevent spinal cord infection (meningitis) Protect exposed spinal nerves and associated structures from physical injury Surgical back closure within first few days of life Ventricular shunting procedure: prevent cerebrospinal fluid (CSF) from accumulating and causing progressive hydrocephalus and potential brain injury Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Primary Neurological Impairments in Children with Meningomyelocele Paralysis and loss of sensation Chiari malformation and hydrocephalus https://www.youtube.com/watch?v=TpY07yE9dW8 Chiari type II malformation of the brain Brainstem and part of cerebellum displaced downward toward neck, rather than remaining within skull Hydrocephalus Most common in thoracolumbar lesions Result of abnormal CSF flow pattern, leading to enlargement of ventricular system of the brain Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Associated Impairments and Medical Complications Mobility impairments Delayed rolling, sitting, walking Supplemental or primary use of a wheelchair by early adolescence Intellectual impairments 75% have typical IQ scores, 25% have mild intellectual disability Impairments in perceptual skills, organizational abilities, attention span, speed of motor response, memory, pragmatic language, hand function Nonverbal learning disability, impaired executive function, ADHD Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Associated Impairments and Medical Complications (continued) 15% develop seizure disorder 20% develop visual impairments Musculoskeletal abnormalities Deformities around joints resulting from lack of mobility Clubfoot and hip deformities Spinal curvatures and humps; scoliosis possible Urinary and bowel dysfunction Skin sores Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Associated Impairments and Medical Complications (continued) Weight and stature abnormalities Increased risk for obesity Short stature due to failure of leg growth and spinal curves Sexual issues (sexual dysfuntion) Allergy to latex: reaction can be life threatening Neurological deterioration, potential causes: Malfunctioning or blocked ventricular shunt Tethered spinal cord Swelling in or splitting of the spinal cord Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Educational Programs, Psychosocial Issues Referral to early intervention by 6 months of age Sensorimotor assessment with individualized intervention plan Adaptive equipment Psychoeducational testing Psychosocial issues Independence a challenge Self image, difference More social isolation, less physically active Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Interdisciplinary Management Goals of therapy: Improve functioning and independence Prevent/correct secondary physical or emotional impairments Team of health care professionals: Physician Nurse specialist Physical therapist, occupational therapist Social worker Consulting specialists (neurosurgeon, orthopedic surgeon) Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

Outcome Survival rates have drastically improved over the years, though mortality rates between the ages of 5 and 40 years still almost 10 times higher than national average Adult population is quite heterogeneous About half can walk at least short distances About half can maintain urinary and bowel continence 12% with minimal disabilities, 52% moderate disabilities, 37% severe disabilities Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.