The purpose of this study is to analyze patterns in individuals with hnRNP (and other) genetic variants, including their neurological comorbidities, other medical problems and any treatment. The investigators will maintain an ongoing database of medical data that is otherwise being collected for routine medical care. The investigators will also collect data prospectively in the form of questionnaires, neuropsychological assessments, motor assessments, and electroencephalography to examine the landscape of deleterious variants in these genes.
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Medical abnormalities associated with genetic variants
Timeframe: 5 years
Education-based impairments associated with genetic variants
Timeframe: 5 years
Repetitive Behavior
Timeframe: 5 years
Sleep Habits
Timeframe: 5 years
Sensory Issues
Timeframe: 5 years
Social Interaction and Communication SRS-II Score
Timeframe: 5 years
Anxiety
Timeframe: 5 years
Receptive Language Skills
Timeframe: 5 years
Executive Functioning
Timeframe: 5 years
Autism
Timeframe: 5 years
Adaptive Behavior
Timeframe: 5 years
Social Interaction and Communication SCQ Score
Timeframe: 5 years
Emotional Regulation
Timeframe: 5 years
Motor Performance
Timeframe: 5 years
Function in Daily Activities, Mobility, Social and Cognitive, and Responsibility
Timeframe: 5 years
Functional Balance
Timeframe: 5 years
Functional Capability and Mobility
Timeframe: 5 years
Coordination and Gait
Timeframe: 5 years