Cited by 177Genetic Syndromes and ImprintingAutism Spectrum Disorder ResearchWilliams Syndrome Research

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Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype

Milner, Katja M., Craig, Ellen E., Thompson, Russell J., Veltman, Marijcke W.M., Simon Thomas, N., Roberts, Sian, Bellamy, Margaret, Curran, Sarah R., Sporikou, Caroline M.J., Bolton, Patrick F.·2005·Journal of Child Psychology and Psychiatry

DOI 10.1111/j.1469-7610.2005.01520.x

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Abstract

Background Studies of chromosome 15 abnormality have implicated over-expression of paternally imprinted genes in the 15q11-13 region in the aetiology of autism. To test this hypothesis we compared individuals with Prader-Willi syndrome (PWS) due to uniparental disomy (UPD--where paternally imprinted genes are over-expressed) to individuals with the 15q11-13 deletion form of the syndrome (where paternally imprinted genes are not over-expressed). We also tested reports that PWS cases due to the larger type I (TI) form of deletion show differences to cases with the smaller type II (TII) deletion. Method Ninety-six individuals with PWS were recruited from genetic centres and the PWS association. Forty-nine individuals were confirmed as having maternal UPD of chromosome 15 and were age and sex matched to 47 individuals with a deletion involving 15q11-13 (32 had the shorter (T II) deletion, and 14 had the longer (TI) deletion). Behavioural assessments were carried out blind to genetic status, using the Autism Diagnostic Observation Schedule (ADOS), the Autism Diagnostic Interview (ADI), the Autism Screening Questionnaire (ASQ), the Children's Yale-Brown Obsessive-Compulsive Scale (CY-BOCS), the Vineland Adaptive Behaviour Scales (VABS), and measurements of intellectual ability, including the Wechsler and Mullen Scales and Raven's Matrices. Results UPD cases exhibited significantly more autistic-like impairments in reciprocal social interaction on questionnaire, interview and standa…

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Authors: Milner, K. M., Craig, E. E., Thompson, R. J., Veltman, M. W. M., Simon Thomas, N., Roberts, S., Bellamy, M., Curran, S. R., Sporikou, C. M. J., & Bolton, P. F.
Affiliations: Medical Research Council (GB)
University of Cambridge (GB)
Wessex Regional Genetics Laboratory (GB)
Corresponding author: Bolton, Patrick F.
ORCID: Curran, Sarah R.
Bolton, Patrick F.
Venue: Journal of Child Psychology and Psychiatry
Publisher: Wiley
Published: 2005-09-22
Volume: 46
Issue: 10
Pages: 1089-1096
ISSN: 0021-9630 (ISSN-L)
1469-7610
DOI: 10.1111/j.1469-7610.2005.01520.x
OpenAlex: W2055573605
Cited by: 177
References: 32
Citations by year: 2026: 2 · 2025: 2 · 2024: 8 · 2023: 5 · 2022: 7 · 2021: 2 · 2020: 6 · 2019: 6 · 2018: 6 · 2017: 12 · 2016: 10 · 2015: 10 · 2014: 11 · 2013: 15 · 2012: 14
FWCI: 4.51
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: Journal of Child Psychology and Psychiatry (publishedVersion)
PubMed (publishedVersion)
ePrints Soton (University of Southampton) (submittedVersion)
Research Portal (King's College London) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
Keywords: Prader-Willi syndrome, chromosome 15q11-13, uniparental disomy, autism spectrum disorder, intellectual ability, behavioral phenotypes, reciprocal social interaction, obsessive-compulsive symptoms, adaptive behavior, autism etiology
MeSH terms: Adolescent, Adult, Analysis of Variance, Autistic Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 15, Female, Genetics, Behavioral, United Kingdom, Humans, Intelligence, Male, Middle Aged, Prader-Willi Syndrome, Single-Blind Method, Matched-Pair Analysis, Uniparental Disomy

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Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype

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