Mar 22, 2019
The participant was born early at 35 weeks. During the pregnancy, there was less amniotic fluid than normal (oligohydramnios). At birth, the participant was found to have knee and hip dislocations and skull and brain abnormalities (craniosynostosis, hydrocephalus with an Arnold-Chiari type I malformation). Her dislocations and skull abnormalities were fixed surgically in her first year. A shunt was also placed to alleviate excess fluid in her brain (hydrocephalus).
From early on, the participant was delayed developmentally. As an infant, she did not coo or babble. She started walking at age 4.5. Currently she has moderate intellectual disability and does not speak but is able to communicate some with a tablet.
The participant also has seizures, which started at age 12. During these seizures, she makes throwing movements and has twitching on her left side.
If this participant sounds like you or someone you know, please contact us!
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