New Cases Expand Understanding of CBX1-Related Neurodevelopmental Syndrome
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Three new cases of CBX1-related syndrome reveal novel gene variants linked to developmental delays and speech impairments, expanding understanding of this rare neurodevelopmental disorder.
Study Reveals Common Neurodevelopmental Conditions Co-Occurring with Autism and Their Impact on Diagnosis Timing
A study of North Carolina Medicaid data found that language and developmental delays frequently co-occur with autism and are linked to earlier autism diagnoses, especially when identified between 18 and 24 months.
New SMARCA4 Mutation Linked to Coffin-Siris Syndrome Type 4 with Autism but Without Visual Impairment
A novel SMARCA4 mutation causing Coffin-Siris syndrome type 4 with autism but without typical visual or finger abnormalities was identified in a young patient, expanding the known clinical spectrum.