Dec 11, 2019
This participant was born full-term after an uncomplicated pregnancy. He experienced some initial problems with grunting and wheezing (stridor), but he was able to go home on his second day of life. He has had continued respiratory concerns, including weak cartilage in the walls of the larynx (laryngomalacia), aspiration, and impaired airway clearance.
As an infant, the participant had staring episodes and different movements (arm extension, back arching) that resolved. At 4 months old, he was found to have uncontrolled eye movements (nystagmus). At 8 months old, the participant was noted to have mild global developmental delay.
The participant is currently 8 years old. He has uncoordinated walking (gait ataxia). He is reading at a 2nd grade level and working on addition and subtraction. His social skills have improved with intensive ABA therapy. He has significant anxiety.
Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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