Division of Interdisciplinary Brain Sciences, Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
Dev Med Child Neurol. 2023 Nov;65(11):1520-1529. doi: 10.1111/dmcn.15627. Epub 2023 May 2.
We investigated neuropsychiatric outcomes in children with Noonan syndrome and addressed limitations in previous research with a focus on prepubertal children, comparison to typically developing children, comprehensive neuropsychiatric evaluation, and controlling for overall cognitive abilities.
Forty-five children with Noonan syndrome (mean = 8 years 6 months, SD = 2 years 2 months; 29 females) and 40 typically developing children (mean = 8 years 9 months, SD = 2 years; 22 females) were evaluated with objective, parent-report, and psychiatric interview measures.
Children with Noonan syndrome demonstrated elevated symptoms across attention-deficit/hyperactivity disorder (ADHD) (attention, hyperactivity, and inhibition), autism spectrum disorder (ASD) (maintaining social relationships, behavioral rigidity, and sensory sensitivity), and oppositional defiant disorder (ODD) (aggression) symptom clusters relative to typically developing children (all p < 0.05). Group differences in nearly all parent-report measures were significant after accounting for variations in intellectual functioning, suggesting that increased neurodevelopmental symptoms are not simply driven by overall intelligence. Twenty out of 42 children with Noonan syndrome met criteria for ADHD, eight out of 42 for ODD, and 11 out of 43 demonstrated clinically significant symptoms seen in children with ASD.
Children with Noonan syndrome are at increased risk for a range of ADHD, ASD, and ODD associated symptoms. A dimensional approach reveals significant ASD symptoms in Noonan syndrome that do not emerge when using the currently accepted categorical diagnostic approach.
Neuropsychiatric disorders occur in more than half of children with Noonan syndrome. Children with Noonan syndrome demonstrate highly variable neurodevelopmental symptom profiles. Children with Noonan syndrome display variable impairments in attention, hyperactivity, and inhibition. Specific social concerns include behavioral rigidity, transitions, and difficulties maintaining social relationships. Children with Noonan syndrome display variably elevated levels of aggression and emotional dysregulation.
我们调查了努南综合征患儿的神经精神结局，并通过关注青春期前儿童、与正常发育儿童进行比较、进行全面的神经精神评估以及控制整体认知能力等方式，解决了先前研究的局限性。
对 45 名努南综合征患儿（平均年龄 8 岁 6 个月，标准差 2 岁 2 个月；29 名女性）和 40 名正常发育儿童（平均年龄 8 岁 9 个月，标准差 2 岁；22 名女性）进行了客观、家长报告和精神科访谈评估。
与正常发育儿童相比，努南综合征患儿在注意缺陷多动障碍（ADHD）（注意力、多动和抑制）、自闭症谱系障碍（ASD）（维持社交关系、行为僵化和感觉敏感）和对立违抗性障碍（ODD）（攻击性）症状群中表现出更高的症状（均 p < 0.05）。在考虑到智力功能变化后，几乎所有的家长报告测量都显示出两组之间的差异具有统计学意义，这表明增加的神经发育症状不仅仅是由整体智力决定的。42 名努南综合征患儿中有 20 名符合 ADHD 标准，42 名中有 8 名符合 ODD 标准，43 名中有 11 名表现出与 ASD 患儿相似的临床显著症状。
努南综合征患儿发生一系列 ADHD、ASD 和 ODD 相关症状的风险增加。采用多维方法揭示了努南综合征中存在显著的 ASD 症状，而使用当前公认的分类诊断方法则不会出现这些症状。
神经精神障碍发生在一半以上的努南综合征患儿中。努南综合征患儿表现出高度可变的神经发育症状谱。努南综合征患儿在注意力、多动和抑制方面表现出不同程度的损伤。具体的社交问题包括行为僵化、过渡和维持社交关系的困难。努南综合征患儿表现出不同程度的攻击性和情绪失调升高。
