Mar 03, 2020
The participant met all his developmental milestones on time until he was 16 months old. At that time, he lost his verbal skills (developmental regression) and was diagnosed with autism. He began to have seizures at the age of 6, which later became staring spells. He currently does not speak, but communicates through pictures and gestures. He struggles to grasp academic concepts, but his strength lies in his muscle memory activities and gross motor activities. He is a generally happy kid, who expresses his happiness by making loud high pitched shrieks with his arms bent at shoulders. He has been in applied behavior analysis (ABA) therapy since the age of 2 and still continues to receive it. He has had huge improvements in eye contact, but is unable to mimic simple sounds.
He has a low hairline (low anterior hairline), thick upper lip (thick vermilion border), intermittent crossed eyes (strabismus), and abnormality of the ear (abnormality of the pinna). His past MRI findings show abnormality in the brain (abnormality of the thin corpus callosum).
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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