Neural tube defects

What is the recommended dose of folic acid for women contemplating pregnancy?

-0.4 mg per day -while they're trying to conceive through the first 12 weeks of pregnancy (or end of their 1st term)

What is the recommended dose of folic acid for women who have a NTD (or a first degree relative who has a NTD)?

-4 mg per day -at least from around the time of conception

Make a brief statement about the associated impairment: urinary/ bowel of NTD

-bladder dysfunction: present in all children with meningomyelocele; the bladder has two basic functions 1) store urine, 2) eliminate urine when bladder is full; these children have difficulty with both functions -bowel dysfunction: w/o control this leads to constipation and can led to periods of overflow diarrhea; lack of sensation and failure of anal function can be socially devastating (e.g. soiling of clothing)

What is meningomyelocele?

-final form of Spina Bifida -this form is associated with a sac containing a portion of the spinal cord

Meningocele

-form a Spina Bifida -sac without the spinal cord

What is the goal of therapy for an individual with NTD?

-improve functioning and independence -watch for signs of depression and regression: this requires full team support; the child realizes sports may be minimized or not possible, social life is at a standstill, may feel out of place... Eric Erikson's stages of development is example of the issues

Make a brief statement about the associated impairment: sexual of NTD

-males: have many difficulties and fathering a child usually requires artificial insemination or in vitro fertilization -woman: have less issues with sex than males; if they have a child there is a 4% risk of having a child with an NTD

Describe this NTD: encephalocele

-malformation of the skull that allows the brain to protrude -the brain is usually malformed -most cases occur in the occipital area (back of head)

List examples of associated impairments in individuals with NTDs

-mobility -cognitive -seizures -visual -musculoskeletal -spinal -urinary/ bowel -skin sores -weight and stature -sexual -allergies

Describe this NTD: anencephaly

-more severe congenital disorder or malformation of the skull and the brain -there is no neural development above the brainstem (most primitive part of brain)! -spontaneous abortion usually occurs, those that are live born rarely survive.

Describe this NTD: spina bifida

-most common NTD -this condition causes a split of a section of the vertebral arches -the split may be isolated or occur with a protruding sac called a *meningeal sac* -this sac may contain a portion of the spinal cord.

What is Spina bifida occulta?

-most common form of Spina bifida (a NTD) -most benign, not visible -about 10% of the population has some form -there is usually no visible symptoms

What is Chiari malformation?

-neurological impairment from meningomyelocele -condition where the brain tissue extends into the spinal canal -occurs when the brain stem and part of cerebellum are displaced downward toward the neck, rather than remaining within the skull

Where do the majority of encephaloceles occur?

-occipital area (back of head) -malformation of the skull and brain

What are the intervention issues involved for a person with NTD?

-sensory motor assessment: motion of joints, muscle tone, strength and bulk, sensation, movement skills, postural control and sensory integration skills -treatment: focus on range of motion, strength and moving toward standing and walking -adaptive equipment may be needed for ambulation, proper body alignment

Make a brief statement about the associated impairment: visual of NTD

-strabismus is present in 20% -usually need surgery to correct

Make a brief statement about the associated impairment: mobility of NTD

-the higher the meningomyelocele and weaker the muscles the harder it is to be mobile (difficult walking)

What are good food sources of folic acid?

-vegetables: green and leafy! asparagus, Brussels sprouts, spinach, avocados, lentils, lettuce, beetroot, mushrooms -fruits: melons, strawberries, kiwis, orange juice -also beef liver, fortified bread, flour, rice

What is folic acid?

-vitamin, essential to the body and a coenzyme -belongs to the B complex group -role: cellular division and metabolisms (a developing baby needs it to grow cells, tissues, and organs) -aka folate or folacin -soluble in water but destroyed by heat

Make a brief statement about the associated impairment: cognitive of NTD

-¾ of children with meningomyelocele have a low average IQ -the rest mild MR

What are the 3 major NTDs?

1. Encephalocele 2. Anencephaly 3. Spina bifida

What are the first 2 priorities related to NTDs in the fetus or newborn?

1. infection of the spinal cord 2. injury -protect exposed spinal nerves

Make a brief statement about the associated impairment: seizures of NTD

15% develop seizures

NTD

Neural Tube Defect

What term is used for the most common form of Spina bifida?

Spina Bifida Occulta

Make a brief statement about the associated impairment: spinal of NTD

almost 90% with meningomyelocele above the sacral level have curvatures of the spine or lumps (scoliosis or Kyphosis)

When should intervention for a person with NTD begin?

by 6 months (early intervention)

Make a brief statement about the associated impairment: weight of NTD

children with L2 lesions are at risk for obesity (due to decrease activity)

Make a brief statement about the associated impairment: musculoskeletal of NTD

deformity about joints may occur due to lack of mobility and muscle imbalance

What is folic acid used for in pregnant women?

its recommended to prevent NTDs

Symptoms of chiari malformation

pain, trouble swallowing, abnormal gait, impaired hearing, headaches, problem with coordination, stiff muscles, overactive reflexes, numbness, pins and needles, tingling/ burning, blurred vision or sensitivity to light, swelling of optic disc or rapid involuntary eye movement

Make a brief statement about the associated impairment: allergies of NTD

the reason is unknown but over half of children with meningomyelocele develop an allergy to latex

Make a brief statement about the associated impairment: skin sores of NTD

they often occur