intellectual disability
Autism Study Finds Prognostic Value in Combining Genetic, Early Milestone Data
Researchers found that genetic variants alone could not predict intellectual ability in most cases but were predictive in combination with clinical data.
A phenome-wide association study of methylated GC-rich tandem repeat expansions identified a GCC expansion in AFF3 linked to intellectual disability.
The 285-gene panel tests for conditions associated with autism and intellectual disability and can be taken at home via a saliva swab.
Genome Sequencing Provides Diagnostic Boost for Intellectual Disability, but Cost Remains Higher
Researchers saw enhanced pathogenic variant detection with trio genome sequencing for intellectual disability cases, though exome sequencing remained more cost-effective.
Neurodevelopmental Disorder Variants Identified by Short-Read, Long-Read Genome Sequencing
Genome sequencing on 489 individuals with neurodevelopmental disorders and their family members uncovered causal variants in more than a third of cases.