Genetics

Genetics researchers find new neurodevelopmental syndrome

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, ...

Autism spectrum disorders

Autism diagnoses prove highly stable as early as 14 months

Diagnoses of autism spectrum disorder (ASD) by trained professionals in children as young as 14 months are remarkably stable, suggesting that accurate screening and earlier treatment is feasible, report scientists at University ...

Genetics

Phenotype varies for presumed pathogenic variants in KCNB1

(HealthDay)—De novo KCNB1 missense and loss-of-function variants are associated with neurodevelopmental disorders, with or without seizures, according to a study published online Aug. 14 in JAMA Neurology.

Genetics

Medical mystery solved in record time

In a study published today in PLoS ONE, a team of researchers reports solving a medical mystery in a day's work. In record-time detective work, the scientists narrowed down the genetic cause of intellectual disability in ...

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