Background: 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.
Methods: 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.
Results: 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.
Conclusions: 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.
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http://dx.doi.org/10.1186/s11689-024-09581-6 | DOI Listing |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11660842 | PMC |
J Exp Child Psychol
December 2024
Child Psychopathology Unit, Scientific Institute, 23842 Bosisio Parini, Lecco, Italy.
The ability to process auditory information is one of the foundations of the ability to appropriately acquire language. Moreover, early difficulties in basic auditory abilities have cascading effects on the appropriate wiring of brain networks underlying higher-order linguistic processes. Language impairments represent core difficulties in two different but partially overlapping disorders: developmental language disorder (DLD) and autism spectrum disorder (ASD).
View Article and Find Full Text PDFJ Autism Dev Disord
December 2024
Autism Spectrum Disorders Research Center, Hamadan University of Medical Sciences, Hamadan, Iran.
Purpose: The aim of the current study was to examine the psychometric properties of the Emotion Regulation and Social Skills Questionnaire (ERSSQ) among young Farsi-speaking individuals with Autism Spectrum Disorder (ASD) in Iran.
Methods: This cross-sectional study analyzed data from 108 children and teenagers (aged 7 to 14 years; mean age = 10.55 years, 91% male) with ASD, along with an equal number of neurotypical children, their families, and teachers.
Spine J
December 2024
Department of Orthopaedic Surgery, University of Kansas Medical Center, Kansas City, Kansas; Rocky Mountain Scoliosis and Spine, Denver, CO, USA.
Background Context: While the treatment of adult spinal deformity (ASD) has increasingly favored surgical correction, the incidence of revision surgery remains high. Yet, little has been explored on the association between the etiology of reoperation and patient outcomes.
Purpose: To assess the impact of the etiology of revision surgery on postoperative outcomes.
Am J Hum Genet
December 2024
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address:
Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such as MECP2, DDX3X, and DMD.
View Article and Find Full Text PDFAm J Hum Genet
November 2024
The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; McLaughlin Centre, Toronto, ON M5G 0A4, Canada. Electronic address:
Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males.
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