Neural tube disorders

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30.1
Averil Tam
Flashcards by Averil Tam, updated more than 1 year ago
Averil Tam
Created by Averil Tam almost 6 years ago
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1. What is the most common neural tube defect? A. Lipomyelomeningocele B. Myelomeningocele C. Spina bifida occulta C. Spina Bifida Occulta is a very common NTD (10-20% of healthy people may be found to have this). It is usually innocent and these children do not have any neurological compromise, functional loss and as such do not require treatment. It is often an incidental finding on a spinal XR taken for other reasons and they do not need to be referred to a Spina Bifida service. The most common NTD seen in Spina Bifida services is the myelomeningocele but it’s still a relatively rare congenital condition (1: 2000 live births). Lipomyelomeningoceles are even more rare (1-2: 10.000 live births).
2. When providing counselling what would be your advice regarding prevention of Spina Bifida? A. Genetic screening B. Folic acid supplementation C. Fetal surgery B. The majority of causes are in some way related to insufficient levels of Folic Acid in the mother at the time of conception and therefore Folic Acid supplementation before conception and during the first trimester is most useful. Unfortunately it will not fully prevent recurrence/occurrence as it only lowers the risk of a NTD but not eliminates it. There is no one gene/known genes responsible for Spina Bifida that can be checked for and therefore genetic screening usually will not help prevent future cases. Fetal surgery is offered as an intervention overseas to reduce the level of disability by closing the back lesion before birth around 23 weeks into the pregnancy. This will not cure the child and as such cannot be seen as prevention of Spina Bifida.
3. In which of the 3 domains affected by Spina Bifida is typically the most energy invested by the treating team before a child commences school? A. Learning B. Mobility C. Continence C. Having well established routines for bladder/bowels is for medical reasons (UTI and kidney damage), social reasons (excluded/teased if smelly/nappy) and cognitive reasons. The majority of patients are also affected with Chiari 2 +/- hydrocephalus - struggle with taking initiative, not always very flexible, often challenged with planning/organisation difficulties. Routines established for adolescent/adulthood. Learning difficulties may become apparent - impact in the second half of primary school due to executive dysfunction. Invest time into mobility but does not involve a great deal of surveillance/subspecialty reviews. Most surgical interventions and high intensity therapy happen at end primary school and adolescence - height/weight functional loss has occurred 2y contractures.
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