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MECP2 duplication syndrome is a rare but important diagnosis in children because of the burden of respiratory illness and recurrence risk

The IDEA system is a valuable resource to address the needs of people living with intellectual disability

The present estimates of relative recurrence risks for autism spectrum disorder and childhood autism will assist clinicians and families in understanding autism risk

Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience

In the first multinational study of birth seasonality of autism spectrum disorder, there was evidence supporting the presence of seasonal trends in Finland and Sweden

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials.

Based on population data from 5 countries, the heritability of ASD was estimated to be approximately 80%

Conception within 12 months of a stillbirth was common and was not associated with increased risk of adverse outcomes in the subsequent pregnancy

This study explored facilitators and barriers to "uptime" (non-sedentary) activities in Danish girls and women with Rett syndrome

Initial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability