Endocrine Abstracts

Background: Septo-optic dysplasia (SOD) is a rare congenital condition diagnosed in children with two or more of hypothalamo-pituitary axis dysfunction, midline brain abnormalities, and optic nerve hypoplasia. SOD has a heterogenous clinical phenotype, characterised by varying visual impairment and endocrine dysfunction. Autistic-like behaviours have also been reported in children with SOD, however the nature of these neurobehavioural impairments remain to be fully understood.

Objectives: The aim of this scoping review was to address the following research questions: What is the prevalence of neurobehavioural impairments in children with SOD? What standardised measures have been used to assess these impairments?

Methods: The search was conducted in PubMed and OVID databases EMBASE and PsychInfo. Hand-searching reference lists of included studies was conducted to search for additional papers. All peer-reviewed, observational studies assessing cognitive, behavioural, emotional, and social impairments, or autism spectrum disorder (ASD) symptoms were retrieved. Due to heterogeneity in the diagnostic classification of SOD, children (<18 years) with SOD, ONH, and SOD-plus were included. Studies were excluded if they did not use standardised measures of neurobehavioural outcomes.

Results: From 2908 articles identified in the initial search, 18 papers met the inclusion criteria. One further study was identified from the reference list search of included papers, resulting in a total of 19 included studies. Of 13 studies assessing cognitive function, 52.9% of children presented with intellectual disability or developmental delay. Among six papers reporting a formal assessment of ASD, 81 of 215 (37.7%) children had a diagnosis of ASD or a clinical level of symptoms. Five studies reported difficulties across emotional, social, and adaptive behavioural functioning. Heterogeneity of the neurobehavioural assessments used in these studies limited the evaluation of comparative outcomes.

Conclusions: Overall, the majority of studies suggest that children with SOD experience varied neurobehavioural impairments. Clinicians should therefore consider formal ASD and neurobehavioural assessments alongside routine care. There is, however, a need for more research specifically assessing behavioural, social, and emotional dysfunction, using sensitive and standardised tools in order to provide a more accurate estimate of these impairments in children with SOD.