Cited by 108Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Autism spectrum features in Smith–Magenis syndrome

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Laje, Gonzalo, Morse, Rebecca, Richter, William, Ball, Jonathan, Pao, Maryland, Smith, Ann C.M.·2010·American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Abstract

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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Research works printed but not linked: 4

  1. Duncan W Gropman A Morse R Krasnewich D Smith ACM 2003 Good Babies Sleeping Poorly: Insufficient Sleep in Infants with Smith-Magenis Syndrome (SMS) Am J Hum Genet suppl 73 A896
  2. Smith AC Dykens E Greenberg F 1998b Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2) Am J Med Genet 81 186 191 9613860
  3. Smith ACM Boyd K Elsea SH Finucane BM Haas-Givler B Gropman A Johnson KP Lupski JR Magenis E Potocki L 2010 Smith-Magenis Syndrome GeneReviews http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sms
  4. Smith ACM McGavran L Waldstein G Robinson J 1982 Deletion of the 17 short arm in two patients with facial clefts Amer J Hum Genet 34 410A

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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
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
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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