Neurobehavioral profile of individuals with pathogenic variants in CHD3.

Researchers studied 38 people with a rare genetic condition called Snijders Blok-Campeau syndrome (SNIBCPS) and compared them to people with autism and Fragile X syndrome. They found that people with SNIBCPS have significant challenges with daily living skills, communication, and movement. However, they showed relatively better social skills and fewer behavioral problems compared to their other difficulties, which could be considered a strength area for this condition.

This study examined the neurobehavioral profile of 38 individuals with Snijders Blok-Campeau syndrome (SNIBCPS), a rare neurodevelopmental disorder caused by CHD3 gene variants. Researchers compared these individuals to cohorts with autism spectrum disorder and Fragile X syndrome. The study found profound deficits in adaptive functioning, communication skills, and sensorimotor functioning in most SNIBCPS participants. Notable similarities emerged between SNIBCPS and Fragile X syndrome, particularly in reduced global adaptive behavior and social-communication functioning.

Despite significant challenges, the social domain showed relatively higher adaptive levels with minimal emotional/behavioral issues, suggesting potential relative strengths in SNIBCPS. This research expands understanding of SNIBCPS phenotypic characteristics and provides valuable comparative insights with related neurodevelopmental conditions.

Results suggest SNIBCPS requires comprehensive support targeting adaptive functioning, communication, and sensorimotor skills. The relative strength in social functioning may provide a foundation for building other skills. Comparison findings with Fragile X syndrome may inform adapted intervention strategies.

Single study design with relatively small sample size (n=38) for a rare condition. Comparison methodology and specific assessment tools not detailed in abstract. Long-term outcomes and intervention effectiveness not addressed.

Snijders Blok-Campeau syndrome (SNIBCPS), a neurodevelopmental disorder first described in 2018, is caused by heterozygous pathogenic variants in CHD3. Its encoded protein plays a crucial role in the development of the nervous system of embryos. While phenotypic traits have been broadly defined, i.e., global neurodevelopmental delays such as intellectual disabilities and delayed speech acquisition, and physical features such as characteristic facial features and macrocephaly, the phenotypic spectrum has not been further assessed. We present the neurobehavioral profile of 38 individuals with variants in CHD3 and compare it to the ones of autism spectrum disorder (ASD) and Fragile X syndrome (FXS) cohorts.

Profound clinical deficits were found in adaptive functioning, communication skills, and sensorimotor functioning in most SNIBCPS participants. Similarities between FXS and SNIBCPS cohorts were unveiled, characterized by diminished levels of global adaptive behavior and adaptive functioning in the social and communication domains. Nevertheless, despite profound challenges in global adaptive behavior in SNIBCPS, we reveal the social domain as showing the highest adaptive levels alongside minimal emotional/behavioral issues within the sample, suggesting relative strengths inherent to SNIBCPS. This study enriches the scarce SNIBCPS literature by delineating the neurobehavioral phenotypic spectrum of SNIBCPS and by innovating comparisons with clinically akin neurodevelopmental disorders.