The social behavioral phenotype of Kabuki syndrome.

Autism in Klinefelter Syndrome (47,XXY)

Klinefelter Syndrome (KS;47,XXY) is associated with a range of neurodevelopmental and psychiatric outcomes, including higher autism rates. There is limited information regarding associations between autism diagnoses and clinical presentation profiles in KS: a gap with important implications for our understanding...

B-51: Prototypic Autism Spectrum Disorder scores on the Delis-Kaplan Executive Function System From a Clinical Sample

Objective: The Delis-Kaplan Executive Function System (D-KEFS) is one of the most frequently used measures of executive functioning in neuropsychological assessment, yet its psychometric and theoretical applicability to Autism Spectrum Disorder (ASD) populations remains poorly understood. The purpose of this study wa...

Relationship between Aberrant Behavior Checklist (ABC) scores, hyperphagia, and quality of life in youth with Prader-Willi syndrome.

Maladaptive behaviors, hyperphagia, and quality of life appear to be strongly linked in youth with PWS when measured with standardized domain-specific surveys.

Profile of Behavioral Comorbidities in Children With Fragile X Syndrome.

Social Functioning Profiles in Children with Autism Spectrum Disorder in China: A Preliminary Identification of Subtypes

Preliminary evidence for the heterogeneity of social functioning in children with ASD is offered, serving as a step toward precision-based social interventions and inclusive educational support.

Expanding the neurobehavioral phenotype of HERC2-related disorder in the Amish

HERC2-related disorder (Autosomal recessive intellectual developmental disorder-38 (MRT38); Online Mendelian Inheritance in Man #615516) is an autosomal recessive neurodevelopmental condition characterized by global developmental delay, hypotonia, autistic behaviors, mild dysmorphic features, and an increased risk of s...