Jan 11, 2019
At 6 months, the participant’s parents noticed that he was not meeting his developmental milestones. Soon after, he was noticed to have abnormal muscle contractions (dystonia) and seizure-like symptoms. Currently, the participant does not walk and is non-verbal with limited receptive language. He experiences sleep issues and has repetitive behaviors (stereotypy) and inappropriate laughter.
The participant’s body also has difficulty regulating itself (autonomic dysfunction). For example, he has decreased tear secretion (decreased lacrimation), decreased sweating, and constipation. However, he can regulate his own body temperature.
If this participant sounds like you or someone you know, please contact us!
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