Neuropsychiatric phenotypes in children with Noonan syndrome.
Neuropsychiatric phenotypes in children with Noonan syndrome.
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努南综合征儿童的神经精神表型。
DOI：
10.1111/dmcn.15627
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发表时间：
2023
影响因子：
3.8
通讯作者：
Green,Tamar
中科院分区：
文献类型：
--
作者：
Naylor,PaigeE;Bruno,JenniferL;Shrestha,SharonBade;Friedman,Marcelle;Jo,Booil;Reiss,AllanL;Green,Tamar
我们调查了Noonan综合征儿童的神经精神预后，并解决了先前研究的局限性，重点关注青春期前儿童，与典型发育儿童进行比较，全面的神经精神评估，并控制整体认知能力。方法对45例Noonan综合征患儿（平均8岁6个月，SD = 2岁2个月，女性29例）和40例正常发育患儿（平均8岁9个月，SD = 2岁，女性22例）进行客观、家长报告和精神病学访谈评估。结果Noonan综合征患儿在注意缺陷/多动障碍（ADHD）（注意、多动和抑制）、自闭症谱系障碍（ASD）（维持社会关系、行为僵硬和感觉敏感性）和对立违抗障碍（ODD）（攻击）症状群中均较正常发育儿童有所升高（p< 0.05）。在考虑了智力功能的差异后，几乎所有家长报告测量的组间差异都是显著的，这表明神经发育症状的增加不仅仅是由整体智力驱动的。42名患有努南综合症的儿童中有20名符合多动症的标准，42名患有ODD的儿童中有8名，43名儿童中有11名表现出与ASD儿童相同的临床显著症状。努南综合征患儿出现一系列ADHD、ASD和ODD相关症状的风险增加。维度方法揭示了努南综合征中显著的ASD症状，这些症状在使用目前公认的分类诊断方法时并未出现。这篇论文的补充内容：半数以上的努南综合征患儿出现神经精神障碍。努南综合征患儿表现出高度可变的神经发育症状特征。患有努南综合症的儿童在注意力、多动和抑制方面表现出不同的缺陷。具体的社会问题包括行为僵化、转变和维持社会关系的困难。患有努南综合症的儿童表现出不同程度的攻击性和情绪失调。
AimWe 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.MethodForty‐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.ResultsChildren 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 (allp< 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.InterpretationChildren 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.What this paper addsNeuropsychiatric 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.