Neurodevelopmental impairments in children with septo-optic dysplasia spectrum conditions: a systematic review.

This study looked at children with a rare condition called septo-optic dysplasia (SOD), which affects vision, brain development, and hormones. Researchers found that many children with SOD also have learning difficulties (52%), autism-like behaviors (35%), and behavioral or social challenges (48%). The study suggests doctors should regularly check for these developmental issues in children with SOD to provide better support.

This systematic review examined neurodevelopmental impairments in children with septo-optic dysplasia (SOD) spectrum conditions. From 20 studies including 479 children, the review found high rates of developmental challenges: 52% had intellectual disability or developmental delay, 35% had autism spectrum disorder diagnosis or clinical-level symptoms, and 48% showed behavioral, emotional, or social impairments. However, the studies showed significant variation in assessment methods and sample characteristics, limiting the ability to identify specific contributing factors. The findings suggest children with SOD spectrum conditions have substantial neurodevelopmental needs requiring comprehensive assessment and support.

Clinicians should include formal assessments of ASD symptoms and neurodevelopmental impairments alongside routine SOD care. There is need for standardized assessment tools and research into causal mechanisms of neurodevelopmental impairments in SOD spectrum conditions.

High heterogeneity among samples regarding neuroanatomical, endocrine, and optic nerve involvement prevented statistical analysis of contributing factors. Variation in study designs and assessment tools across studies may have increased information bias risk.

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.