Objective

The behavioral phenotype of neurogenetic disorders associated with intellectual disability often includes psychiatric comorbidity. The objectives of this systematic review and meta-analysis were to systematically review the prevalence of psychiatric disorders and symptoms in children and adolescents with these disorders and compare phenotypic signatures between syndromes.

Method

MEDLINE and PsycINFO databases were searched for articles from study inception to December 2018. Eligible articles were peer reviewed, were published in English, and reported prevalence data for psychiatric disorders and symptoms in children and adolescents aged 4 to 21 years using a formal psychiatric assessment or a standardized assessment of mental health symptoms. Pooled prevalence was determined using a random-effects meta-analysis in studies with sufficient data. Prevalence estimates were compared with general population data using a test of binomial proportions.

Results

Of 2,301 studies identified for review, 39 articles were included in the final pool, which provided data on 4,039 children and adolescents. Ten syndromes were represented, and five were predominant: Down syndrome, 22q11.2 deletion syndrome, fragile X syndrome, Williams syndrome, and Prader-Willi syndrome. The Child Behavior Checklist was the most commonly used assessment tool for psychiatric symptoms. The pooled prevalence with total scores above the clinical threshold was lowest for Down syndrome (32% [95% confidence interval, 19%-44%]) and highest for Prader-Willi syndrome (74% [95% CI, 65%-82%]) with each syndrome associated with significantly higher prevalence than in the general population. Parallel trends were observed for the internalizing and externalizing domains and social subscale scores.

Conclusion

Differential vulnerability for psychiatric phenotype expression across the disorders was observed. Syndromes with higher levels of social ability or competence appear to offer relative protection against developing psychopathology. This preliminary finding merits further exploration.

中文翻译：

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系统评价和荟萃分析：与智力障碍相关的神经遗传性疾病儿童的心理健康。

目的

与智力障碍相关的神经遗传性疾病的行为表型通常包括精神病合并症。该系统评价和荟萃分析的目的是系统地回顾患有这些疾病的儿童和青少年的精神疾病和症状的患病率，并比较各种综合征之间的表型特征。

方法

检索MEDLINE和PsycINFO数据库从研究开始到2018年12月的文章。对符合条件的文章进行同行评审，以英文发表，并使用正式的精神病学评估或以下方法报告4至21岁儿童和青少年的精神疾病患病率和症状患病率：精神健康症状的标准化评估。在具有足够数据的研究中，使用随机效应荟萃分析确定合并患病率。使用二项式比例检验将患病率估计值与一般人群数据进行比较。

结果

在确定要审查的2,301项研究中，有39篇文章被纳入了最终文献库，其中提供了4,039名儿童和青少年的数据。代表了十种综合症，其中五种是主要的：唐氏综合症，22q11.2缺失综合症，脆性X综合症，Williams综合症和Prader-Willi综合症。儿童行为清单是最常用的精神症状评估工具。总得分高于临床阈值的合并患病率，唐氏综合症最低（32％[95％置信区间，19％-44％]），普拉德-威利综合症最高（74％[95％CI，65％-82]） ％]），每种综合征的患病率均比普通人群高得多。观察到内部化和外部化领域以及社会分量表得分的平行趋势。

结论

观察到跨疾病的精神病学表型表达的差异脆弱性。具有较高社会交往能力或能力的综合症似乎为发展心理病理学提供了相对的保护。这一初步发现值得进一步探索。