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.

中文翻译：

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患有视间隔发育不良谱系疾病的儿童的神经发育障碍：系统评价

中隔视神经发育不良 (SOD) 是一种罕见疾病，在患有以下两种或多种疾病的儿童中被诊断出来：垂体功能减退、脑中线异常和视神经发育不全。患有 SOD 的儿童会出现不同程度的视力障碍和内分泌功能障碍。据报道，有类似自闭症的行为；然而，它们的性质和普遍程度仍有待充分了解。本系统综述旨在探讨 SOD 谱系儿童神经发育障碍的类型和患病率。该检索是在 PubMed、EMBASE 和 PsycInfo 中进行的。对纳入研究的参考文献列表进行了手工检索。所有评估患有 SOD、视神经发育不全和 SOD+ 的儿童（< 18 岁）的行为和认知障碍或自闭症谱系障碍 (ASD) 症状的同行评审观察性研究均纳入其中。如果研究没有报告神经发育障碍或自闭症谱系障碍（ASD）结果的标准化测量，则被排除在外。在 2132 篇筛选文章中，有 20 篇报告了总共 479 名儿童的数据，被纳入患病率估计值。在评估认知发育结果的 14 项研究中，336 名儿童中有 175 名 (52%) 出现智力障碍或发育迟缓。五项研究中，187 名儿童中有 65 名 (35%) 被诊断为自闭症谱系障碍或临床症状。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 名接受评估的儿童中的 88 名（48%）存在障碍。重要的是，样本之间在神经解剖学、内分泌和视神经参与方面的高度异质性意味着不可能统计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的差异的限制，这可能增加了信息偏差的风险。这项系统评价表明，SOD 谱系儿童神经发育障碍的患病率可能很高。因此，临床医生应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，还需要进一步研究来定义和验证一套标准化工具，以准确识别 SOD 谱条件下的神经发育障碍，并进行研究以确定可能的因果机制。