ESPE Abstracts

Background: 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 (ONH). Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported, however the nature and prevalence of these neurobehavioural impairments remain to be fully understood. The present systematic review aimed to explore the type and prevalence of neurobehavioural impairments in children with SOD spectrum conditions.

Methods: The search was conducted in PubMed, EMBASE, and PsycInfo. Hand-searching reference lists of included studies was conducted. All peer-reviewed, observational studies assessing neurobehavioural impairments or autism spectrum disorder (ASD) symptoms in children (<18 years) with SOD, ONH, and SOD-plus were included. Studies were excluded if they did not report standardised measures of neurobehavioural or ASD outcomes.

Results: 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.

Conclusions: This systematic review found that there is a high prevalence of neurobehavioural impairments in children within the SOD spectrum. Clinicians should therefore consider formal neurobehavioural and ASD assessments alongside routine care. There is, additionally, a need for further research to define and validate a standardised battery of tools that accurately identify neurobehavioural dysfunction in SOD spectrum conditions, and for research to identify the likely causal mechanisms.