Kramer Jennifer, Roelofs Renée L, Wingbermühle Ellen, Pieters Sara, Egger Jos
Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.
Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands.
JAACAP Open. 2025 May 21;3(3):645-654. doi: 10.1016/j.jaacop.2025.05.002. eCollection 2025 Sep.
The current study aims to examine executive and social functioning in children and adolescents with Noonan syndromes, which contributes to the understanding of the cognitive and behavioral profile of this population and possible treatment options.
A total of 26 children and adolescents with Noonan syndromes (including Noonan syndrome, Noonan syndrome with multiple lentigines, and Noonan-like syndrome with loose anagen hair; mean age = 11.92 years, SD = 2.64) and 25 typically developing children and adolescents (mean age = 10.32 years, SD = 2.75) participated in this study. Cognitive and behavioral measures of executive and social functioning of children and adolescents in these groups were compared using multivariate analyses of variance. Moreover, the relationship between executive and social functioning was examined.
Results showed significant group differences on working memory and attention, with controls outperforming children and adolescents with Noonan syndromes, even when controlling for crystallized intelligence. At a behavioral level, children and adolescents with Noonan syndromes experienced more executive function problems and more characteristics of attention-deficit/hyperactivity disorder and autism spectrum disorders in daily life than controls, even when controlling for crystallized intelligence. Positive relationships were found between behavioral measures of executive functions and characteristics of autism spectrum disorders.
Difficulties in working memory and attention seem to be key cognitive features in children and adolescents with Noonan syndromes. These difficulties occur alongside parental reports of executive function problems, characteristics of attention-deficit/hyperactivity disorder, and autism spectrum disorders.
本研究旨在考察努南综合征患儿及青少年的执行功能和社交功能，这有助于了解该人群的认知和行为特征以及可能的治疗方案。
共有26名患有努南综合征的儿童及青少年（包括努南综合征、伴有多个雀斑样痣的努南综合征以及具有生长期毛发松动的类努南综合征；平均年龄 = 11.92岁，标准差 = 2.64）和25名发育正常的儿童及青少年（平均年龄 = 10.32岁，标准差 = 2.75）参与了本研究。使用多变量方差分析比较了这些组中儿童及青少年执行功能和社交功能的认知及行为测量指标。此外，还考察了执行功能与社交功能之间的关系。
结果显示，在工作记忆和注意力方面存在显著的组间差异，即使在控制了晶体智力的情况下，对照组的表现仍优于患有努南综合征的儿童及青少年。在行为层面，即使在控制了晶体智力的情况下，患有努南综合征的儿童及青少年在日常生活中比对照组经历了更多的执行功能问题以及更多注意缺陷多动障碍和自闭症谱系障碍的特征。执行功能的行为测量指标与自闭症谱系障碍的特征之间存在正相关关系。
工作记忆和注意力方面的困难似乎是患有努南综合征的儿童及青少年的关键认知特征。这些困难伴随着家长报告的执行功能问题、注意缺陷多动障碍的特征以及自闭症谱系障碍一同出现。
