Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review.
Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review.
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DOI：
10.1186/s13229-023-00559-0
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发表时间：
2023-07-25
期刊：
影响因子：
6.2
通讯作者：
中科院分区：
文献类型：
--
作者：
视隔发育不良（SOD）是一种罕见的疾病，诊断儿童有两个或两个以上的以下：垂体功能减退，中线脑异常，视神经发育不全。SOD患儿存在不同程度的视力损害和内分泌功能障碍。类似自闭症的行为也有报道，但其性质和流行程度仍有待充分了解。本系统综述旨在探讨SOD谱疾病儿童神经发育障碍的类型和患病率。在PubMed、EMBASE和PsycInfo中进行检索。手动检索纳入研究的参考文献列表。纳入了所有同行评审的观察性研究，这些研究评估了SOD、视神经发育不全和SOD+儿童（< 18岁）的行为和认知障碍或自闭症谱系障碍（ASD）症状。如果研究没有报告神经发育障碍或ASD结局的标准化测量，则将其排除。从2132篇筛选的文章中，20篇报告数据的文章共479名儿童被纳入患病率估计。在14项评估认知发展结果的研究中，336名儿童中有175名（52%）出现智力残疾或发育迟缓。在五项研究中，187名儿童中有65名（35%）被诊断为ASD或临床症状水平。只有五项研究评估了行为，情感或社交领域的功能障碍，并报告了184名儿童中的88名（48%）的损伤。重要的是，样本之间在神经解剖学、内分泌和视神经受累方面的高度异质性意味着不可能在统计学上评估这些混杂因素对特定神经发育表型的相对贡献。这进一步受到纳入研究中使用的研究设计和行为评估差异的限制，这可能增加了信息偏倚的风险。这项系统性综述表明，儿童SOD谱内神经发育障碍的患病率可能很高。因此，临床医生应该考虑在常规护理的同时，对ASD症状和神经发育障碍进行正式评估。此外，还需要进一步的研究来定义和验证一组标准化的工具，这些工具可以准确地识别SOD谱条件下的神经发育障碍，并需要研究来确定可能的因果机制。在线版本包含补充材料，可通过10.1186/s13229-023-00559-0获得。
Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia. Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported; however, their nature and prevalence remain to be fully understood. The present systematic review aimed to explore the type and prevalence of neurodevelopmental impairments in children with SOD spectrum conditions. The search was conducted in PubMed, EMBASE, and PsycInfo. Hand-searching reference lists of included studies was conducted. All peer-reviewed, observational studies assessing behavioural and cognitive impairments or autism spectrum disorder (ASD) symptoms in children (< 18 years) with SOD, optic nerve hypoplasia, and SOD-plus were included. Studies were excluded if they did not report standardised measures of neurodevelopmental impairments or ASD outcomes. From 2132 screened articles, 20 articles reporting data from a total of 479 children were included in prevalence estimates. Of 14 studies assessing cognitive-developmental outcomes, 175 of 336 (52%) children presented with intellectual disability or developmental delay. A diagnosis of ASD or clinical level of symptoms was observed in 65 of 187 (35%) children across five studies. Only five studies assessed for dysfunction across behavioural, emotional, or social domains and reported impairments in 88 of 184 (48%) of children assessed. Importantly, high heterogeneity among the samples in relation to their neuroanatomical, endocrine, and optic nerve involvement meant that it was not possible to statistically assess the relative contribution of these confounding factors to the specific neurodevelopmental phenotype. This was further limited by the variation in study designs and behavioural assessments used across the included studies, which may have increased the risk of information bias. This systematic review suggests that the prevalence of neurodevelopmental impairments in children within the SOD spectrum may be high. Clinicians should therefore consider including formal assessments of ASD symptoms and neurodevelopmental impairments alongside routine care. There is, additionally, a need for further research to define and validate a standardised battery of tools that accurately identify neurodevelopmental impairments in SOD spectrum conditions, and for research to identify the likely causal mechanisms. The online version contains supplementary material available at 10.1186/s13229-023-00559-0.
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影响因子：
8.2
作者：
Johnson ZV;Young LJ
通讯作者：
Young LJ
DOI：
10.1073/pnas.1312857110
发表时间：
2013-12-24
影响因子：
11.1
作者：
Gordon, Ilanit;Vander Wyk, Brent C.;Pelphrey, Kevin A.
通讯作者：
Pelphrey, Kevin A.
影响因子：
8
作者：
Garcia-Filion, Pamela;Epport, Karen;Borchert, Mark
通讯作者：
Borchert, Mark
影响因子：
11
作者：
LoParo, D.;Waldman, I. D.
通讯作者：
Waldman, I. D.
影响因子：
3.8
作者：
Fahnehjelm, KT;Wide, K;Hellström, A
通讯作者：
Hellström, A