Autism spectrum features in Smith–Magenis syndrome
Open accessAbstract
Smith–Magenis syndrome (SMS; OMIM 182290) is a neurodevelopmental disorder characterized by a well‐defined pattern of anomalies. The majority of cases are due to a common deletion in chromosome 17p11.2 that includes the RAI1 gene. In children with SMS, autistic‐like behaviors and symptoms start to emerge around 18 months of age. This study included 26 individuals (15 females and 11 males), with a confirmed deletion (del 17p11.2). Parents/caregivers were asked to complete the Social Responsiveness Scale (SRS) and the Social Communication Questionnaire (SCQ) both current and lifetime versions. The results suggest that 90% of the sample had SRS scores consistent with autism spectrum disorders. Moreover, females showed more impairment in total T‐scores (P = 0.02), in the social cognition (P = 0.01) and autistic mannerisms (P = 0.002) subscales. The SCQ scores are consistent to show that a majority of individuals may meet criteria for autism spectrum disorders at some point in their lifetime. These results suggest that SMS needs to be considered in the differential diagnosis of autism spectrum disorders but also that therapeutic interventions for autism are likely to benefit individuals with SMS. The mechanisms by which the deletion of RAI1 and contiguous genes cause psychopathology remain unknown but they provide a solid starting point for further studies of gene–brain–behavior interactions in SMS and autism spectrum disorders. Published 2010 Wiley‐Liss, Inc.
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Other monogenic syndromes like Kleefstra, KBG, WitKoS, Angelman, Coffin-Sirris, Rubinstein-Taybi, Phelan-McDermid, Smith-Magenis Syndrome and Kabuki syndrome also have a clear prefrontal component in their behavioral and cognitive phenotype.
“Other monogenic syndromes like Kleefstra, KBG, WitKoS, Angelman, Coffin-Sirris, Rubinstein-Taybi, Phelan-McDermid, Smith–Magenis Syndrome and Kabuki syndrome also have a clear prefrontal component in their behavioral and cognitive phenotype [272–280].”
From Development of prefrontal cortex (2022) · cites this paper as [279]
The Introduction describes cognitive impairment, distractibility, and a characteristic behavioral phenotype in Smith–Magenis syndrome. The Discussion reports autistic-spectrum symptoms, but neither passage establishes a clear prefrontal component. This verdict concerns Smith–Magenis syndrome only, the syndrome addressed by this source. (LLM, conf=0.85)
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- Authors
- Laje, G., Morse, R., Richter, W., Ball, J., Pao, M., & Smith, A. C. M.
- Affiliations
- National Institutes of Health (US)
- George Mason University (US)
- Georgetown University (US)
- Corresponding author
- Smith, Ann C.M.
- Venue
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2010-10-27
- Volume
- 154C
- Issue
- 4
- Pages
- 456-462
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- PMC
- PMC2967410
- OpenAlex
- W1980883886
- Cited by
- 108
- References
- 24
- Citations by year
- 2026: 4 · 2025: 2 · 2024: 9 · 2023: 1 · 2022: 7 · 2021: 9 · 2020: 9 · 2019: 7 · 2018: 8 · 2017: 7 · 2016: 8 · 2015: 7 · 2014: 10 · 2013: 10 · 2012: 6
- FWCI
- 3.87
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- U.S. Department of Health and Human Services
- National Institutes of Health (Z99 HG999999)
- National Institute of Mental Health
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- Smith-Magenis syndrome, autism spectrum disorder, 17p11.2 deletion, RAI1 gene, social responsiveness, social communication, sex differences, differential diagnosis
- MeSH terms
- Adolescent, Adult, Child, Child Development Disorders, Pervasive, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 17, Communication, Female, Humans, Male, Middle Aged, Surveys and Questionnaires, Sex Factors, Social Behavior, Transcription Factors, Trans-Activators, Smith-Magenis Syndrome
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