The prevalence of neurodevelopmental disorders in Smith-Magenis Syndrome: a PRISMA compliant systematic review
Abstract
Background: Smith Magenis Syndrome is either due to a deletion in 17p11.2 locus or to a pathogenic variant in RAI1 gene and is associated with a higher risk of neurodevelopmental disorder. We performed a systematic review to assess the prevalence of neurodevelopmental disorders (autism spectrum disorder, attention deficit hyperactivity disorder, intellectual developmental disorder, specific learning disabilities) in Smith Magenis Syndrome as a main outcome. We described the methods used to identify a neurodevelopmental disorder in this population and assessed a phenotype-genotype correlation as secondary outcomes.
Methods & results: Main electronic databases were searched on January 31st, 2024. We considered original articles published in peer-reviewed journals. We selected studies with data concerning the prevalence of neurodevelopmental disorders in people with Smith-Magenis Syndrome. Quality was assessed based on sample identification, confirmation of syndrome, assessment of neurodevelopmental disorders and data coverage. 1941 articles were identified and 14 were included in this review. Data were synthesized and displayed as descriptive tables. No meta-analysis was performed due to the paucity of studies. In total, 451 patients presenting with Smith Magenis syndrome were assessed for neurodevelopmental disorders. 6 studies (n=220 patients) assessed autism spectrum disorder characteristics with prevalence ranging from 14% to 95%, and mean prevalence of 43% and 80% for…
How strong is the evidence?
Evidence Hub reads this as a systematic review, done in people. Its evidence level is 1 of 5 (Highest · pooled evidence). Pooled evidence from several studies sits at the top of the evidence pyramid. Reported size: 451 participants or records.
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