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
Carolina Institute for Developmental Disabilities (CIDD), University of North Carolina at Chapel Hill, 101, Renee Lynne Court, Carrboro, NC, 27510, USA.
Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
J Neurodev Disord. 2024 Dec 19;16(1):70. 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.
唐氏综合征(DS)是最常见的先天性神经发育障碍,约每700例活产中就有1例。尽管其发病率较高,但探索DS潜在神经生物学以及这种神经生物学与行为如何相关的文献有限。本研究通过检查DS学龄儿童的皮质体积和行为相关性来填补这一空白。
学龄儿童(平均年龄=9.7岁±1.1)接受了全面评估,包括认知和适应性评估,以及无需使用镇静剂的MRI扫描。将DS儿童(n=35)与发育正常(TD;n=80)和自闭症谱系障碍(ASD)儿童(n=29)的现有样本进行比较。进行方差分析以比较各组在认知和适应性评估方面的情况。协方差分析(对年龄、性别和全脑体积(TCV)进行协变量调整)比较各组之间的皮质脑体积。按组分别进行行为指标与皮质和小脑体积(分别针对灰质(GM)和白质(WM))之间的相关性分析。
正如预期的那样,与ASD和TD儿童相比,DS儿童的认知技能明显较低。日常生活适应性技能在ASD儿童和DS儿童之间相当,且两组得分均低于TD儿童。与ASD和TD儿童相比,DS儿童的TCV较小。此外,在控制TCV、年龄和性别后,DS儿童的总GM和组织体积明显较小。仅在DS组中,小脑体积与日常生活适应性行为显著相关。
尽管DS儿童的认知技能低于ASD儿童,且总体脑体积较小,但他们在社交和日常生活适应性技能方面的缺陷相当。除了总体积的差异外,还观察到叶体积的差异(例如,右侧额叶GM/WM、左侧额叶WM以及左右颞叶WM)。DS组中小脑体积与日常生活适应性行为之间的相关性为未来研究提供了一个新的探索领域。