Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs).
Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs).
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患有与神经发育障碍 (ND-CNV) 相关的拷贝数变异的年轻人易怒。
DOI：
10.1101/2023.12.05.23299440
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发表时间：
2023
期刊：
影响因子：
--
通讯作者：
vandenBree,MarianneBM
中科院分区：
文献类型：
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作者：
Hall,JessicaH;Chawner,SamuelJRA;IMAGINE-IDconsortium;Wolstencroft,Jeanne;Skuse,David;Holmans,Peter;Owen,MichaelJ;vandenBree,MarianneBM
一系列涉及遗传物质微缺失或重复（拷贝数变异（CNV））的罕见突变与高神经发育和精神风险（ND-CNV）相关。在儿童神经发育状况中经常观察到烦躁，但其病因在很大程度上尚不清楚。遗传变异可能发挥了一定作用，但很少有研究调查患有 ND-CNV 的年轻人的烦躁表现。本研究旨在调查患有罕见 ND-CNV 的年轻人与没有 ND-CNV 的年轻人相比，其烦躁性是否存在差异，以及烦躁性在多大程度上与精神病诊断和认知能力 (IQ) 相关。使用儿童和青少年精神病学评估，对 485 名患有 ND-CNV 的年轻人和 164 名兄弟姐妹对照进行了烦躁和更广泛的精神病理学评估。使用社会沟通问卷评估自闭症，并使用韦克斯勒缩写智力量表评估智商（IQ）。 54% 患有 ND-CNV 的年轻人达到了易怒的阈值；显着高于对照组（OR = 3.77，CI = 3.07–7.90，p= 5.31 × 10−11）。当控制其他精神合并症的存在时，ND-CNV 状态仍然与烦躁相关。没有证据表明烦躁和智商之间存在关系。烦躁是 ND-CNV 年轻人临床表现的一个重要方面。这项工作表明，遗传变异与患有 ND-CNV 的年轻人的烦躁有关，与精神合并症或智商障碍无关。临床医生应该意识到这种增加的风险，以便为管理和干预措施提供信息。
A range of rare mutations involving micro-deletion or -duplication of genetic material (copy number variants (CNVs)) have been associated with high neurodevelopmental and psychiatric risk (ND-CNVs). Irritability is frequently observed in childhood neurodevelopmental conditions, yet its aetiology is largely unknown. Genetic variation may play a role, but there is a sparsity of studies investigating the presentation of irritability in young people with ND-CNVs. This study aimed to investigate whether there is a difference in irritability in young people with rare ND-CNVs compared to those without ND-CNVs, and to what extent irritability is associated with psychiatric diagnoses and cognitive ability (IQ). Irritability and broader psychopathology were assessed in 485 young people with ND-CNVs and 164 sibling controls, using the child and adolescent psychiatric assessment. Autism was assessed using the social communication questionnaire, and intelligence quotient (IQ) by the Wechsler abbreviated scale of intelligence. Fifty four percent of young people with ND-CNVs met the threshold for irritability; significantly more than controls (OR = 3.77, CI = 3.07–7.90,p= 5.31 × 10−11). When controlling for the presence of other psychiatric comorbidities, ND-CNV status was still associated with irritability. There was no evidence for a relationship between irritability and IQ. Irritability is an important aspect of the clinical picture in young people with ND-CNVs. This work shows that genetic variation is associated with irritability in young people with ND-CNVs, independent of psychiatric comorbidities or IQ impairment. Clinicians should be aware of this increased risk to inform management and interventions.