Description

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.