Brain volumes, cognitive, and adaptive skills in school-age children with Down syndrome

• Published in: Journal of neurodevelopmental disorders 2024-12, Vol.16 (1), p.70-14
• Main Authors: Grzadzinski, Rebecca, Mata, Kattia, Bhatt, Ambika S, Jatkar, Alapika, Garic, Dea, Shen, Mark D, Girault, Jessica B, St John, Tanya, Pandey, Juhi, Zwaigenbaum, Lonnie, Estes, Annette, Shen, Audrey M, Dager, Stephen, Schultz, Robert, Botteron, Kelly, Marrus, Natasha, Styner, Martin, Evans, Alan, Kim, Sun Hyung, McKinstry, Robert, Gerig, Guido, Piven, Joseph, Hazlett, Heather
• Format: Article
• Language: English
• Subjects: Adaptation, Psychological - physiology; Autism spectrum disorder; Autism Spectrum Disorder - diagnostic imaging; Autism Spectrum Disorder - pathology; Autism Spectrum Disorder - physiopathology; Brain - diagnostic imaging; Brain - pathology; Brain - physiopathology; Cerebellum - diagnostic imaging; Cerebellum - pathology; Cerebellum - physiopathology; Child; Cognition - physiology; Down syndrome; Down Syndrome - diagnostic imaging; Down Syndrome - pathology; Down Syndrome - physiopathology; Female; Humans; Intellectual disability; Magnetic Resonance Imaging; Male; Neurobehavioral/behavioral profiles; Neurodevelopmental disorder; Neuroimaging; Organ Size
• ISSN: 1866-1955; 1866-1955
• DOI: 10.1186/s11689-024-09581-6

Down syndrome (DS) is the most common congenital neurodevelopmental disorder, present in about 1 in every 700 live births. Despite its prevalence, literature exploring the neurobiology underlying DS and how this neurobiology is related to behavior is limited. This study fills this gap by examining cortical volumes and behavioral correlates in school-age children with DS. School-age children (mean = 9.7 years ± 1.1) underwent comprehensive assessments, including cognitive and adaptive assessments, as well as an MRI scan without the use of sedation. Children with DS (n = 35) were compared to available samples of typically developing (TD; n = 80) and ASD children (n = 29). ANOVAs were conducted to compare groups on cognitive and adaptive assessments. ANCOVAs (covarying for age, sex, and total cerebral volume; TCV) compared cortical brain volumes between groups. Correlations between behavioral metrics and cortical and cerebellar volumes (separately for gray (GM) and white matter (WM)) were conducted separately by group. As expected, children with DS had significantly lower cognitive skills compared to ASD and TD children. Daily Living adaptive skills were comparable between ASD children and children with DS, and both groups scored lower than TD children. Children with DS exhibited a smaller TCV compared to ASD and TD children. Additionally, when controlling for TCV, age, and sex, children with DS had significantly smaller total GM and tissue volumes. Cerebellum volumes were significantly correlated with Daily Living adaptive behaviors in the DS group only. Despite children with DS exhibiting lower cognitive skills and smaller brain volume overall than children with ASD, their deficits in Socialization and Daily Living adaptive skills are comparable. Differences in lobar volumes (e.g., Right Frontal GM/WM, Left Frontal WM, and Left and Right Temporal WM) were observed above and beyond overall differences in total volume. The correlation between cerebellum volumes and Daily Living adaptive behaviors in the DS group provides a novel area to explore in future research.