1. 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
Chapter 25 slides in Children with Disabilities, Seventh Edition, Online Companion Materials. Copyright © 2013 Paul H. Brookes Publishing Co., Inc. All rights reserved.

2. 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.

3. 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.

4. 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.

5. 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.

6. 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.

7. 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.

8. 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.

9. Primary Neurological Impairments in Children with Meningomyelocele
Paralysis and loss of sensation
Chiari malformation and hydrocephalus
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.

10. 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.

11. 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.

12. 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.

13. 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.

14. 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.

15. 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.