The participant was noticed to have developmental delays early in life. She also began to have seizures around age 6. At age 12, she started to have involuntary muscle contractions (dystonia). She developed difficulty speaking (dysarthria) as well, but this has since improved. In addition to these symptoms, the participant … read more
The participant’s mother had an uncomplicated pregnancy with normal labor and delivery. He met all of his developmental benchmarks until he was 24 months, at which he began to plateau. At 26 months, the participant’s motor and speech skills began to regress, and he began to be less social. The … read more
The participant spent the first 19 days after birth in the neonatal intensive care unit (NICU) because of respiratory distress, feeding issues, low muscle tone (hypotonia) and slow heart rate (bradycardia). She was also found to have a heart defect (atrial septal defect). An initial MRI showed almost complete lack … read more
