Friday, October 21, 2016

Dandy Walker Syndrome

Dandy Walker Syndrome is a congenital brain malformation involving the cerebellum and the fluid filled spaces around it. This syndrome involves an enlarged fourth ventricle (a channel that allows fluid to flow freely between upper and lower areas of the brain and spinal cord), a partial or complete absence of the cerebellar vermis (the area between the two cerebellar hemispheres), and cyst formation near the internal base of the skull. There can also be an increase in the fluid space sizes surrounding the brain, known as hydrocephalus. (information found at 
Photo retrieved from here

Genetic Background: Currently, Dandy Walker syndrome cannot be linked to one particular cause. Current evidence suggests that the syndrome results from potential causes versus a genetic identifier such as maternal diabetes, exposure to certain medications/toxins during pregnancy, and viral infections passed from mother to the infant during pregnancy.

Discovered: Dandy Walker malformation was first described by Dandy and Blackfan in 1914 however in 1972 it was further defined with specific characteristics (retrieved here).

Physical and Cognitive Abnormalities: Increase head circumference, bulging at the back of the skull, abnormal breathing problems, problems with nerves that control the eyes, face, and neck. The intellectual development is variable in children, with some having normal cognition and others having impaired cognition due to the excess fluid buildup (information from NINDS link). 

Diagnosis: Symptoms often arise in early infancy. Fetal Dandy Walker syndrome can be identified with an ultrasound in the second or third trimester during pregnancy. There can be signs/symptoms post pregnancy such as: bulging at the back of the skull, delays in motor and language skills, difficulty with balance and coordination (due to problems with the cerebellum), poor muscle tone, and seizures to name a few. According to Rocky Mountain Hospital for Children, Dandy Walker symptoms present themselves before age one. However in older children, different symptoms occur such as increased intracranial pressure, vomiting, cerebellar dysfunction signs (unsteadiness, lack of muscle coordination, jerky movements of eyes). 

Prevalence: "The frequency of Dandy Walker malformation in the US is approximately 1 per 25,000-35,000 live births and affects more females than males" (from NORD). 

Occupational Therapy Role: To increase as much independence in ADL's/IADL's as well as assisting the child with the development/motor delays in their early childhood and into adolescent years. It is our job as OT's to help children achieve their goals with an emphasis on positioning, supporting further motor planning/motor development, and achieving self-care and mobility skills to increase independence in eating, getting dressed, and participating in school/social/play activities. 

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