Nov 30, 2017
At 11 months old, the participant’s parents noticed that he was delayed developmentally and was unable to sit up on his own. He began walking with a walker at age 3. He was evaluated by neurology and received a brain MRI that showed an abnormality of brain white matter (periventricular leukomalacia). However, follow-up brain MRIs have been normal.
At age 8, the patient started to be able to feed himself using a pincher grasp. Currently he is nonverbal and uninterested in signing or using a communication device.
Overall, he is a very pleasant and happy child and has never developed stranger anxiety. His demeanor is reminiscent of Angelman syndrome, but his other symptoms do not fit with this condition.
Clinicians and researchers are investigating the following genetic change to see if it is causing the patient’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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