SynthesisJournal of neurodevelopmental disorders2026
The prevalence of neurodevelopmental disorders in Smith-Magenis Syndrome: a PRISMA compliant systematic review.
Synthesis in Journal of neurodevelopmental disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 authors.
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Abstract
backgroundSmith 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 &
resultsMain electronic databases were searched on January 31
conclusionsIn addition to IDD, ASD and ADHD phenotypes are often observed in Smith Magenis syndrome, with RAI1 carriers affected even more frequently despite a higher cognitive level. This systematic review highlights the need to systematically screen people with Smith Magenis syndrome for attention deficit hyperactivity disorder and autism spectrum disorder in addition to cognitive functions. Smith Magenis syndrome is a relevant model to further study physiopathology of neurodevelopmental disorder.
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