The DOI matches its Crossref record; 30 of the 32 references it cites were found in a registry or an index.
Prader-Willi syndrome: Intellectual abilities and behavioural features by genetic subtype
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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“Several studies have shown that individuals with the larger typical 15q11–q13 type I deletion which is found in both Prader-Willi and Angelman syndromes are reported to have more severe neurodevelopmental symptoms as compared to those individuals with the smaller typical type II deletion [5,6,7,8,9,10].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [8]
In the citing paper
“Milner et al. [8] found significantly higher verbal IQ scores in individuals with PWS and type II deletions versus those with type I deletions.”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [8]
Citations
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Prader-Willi Syndrome: Consensus Diagnostic Criteria
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The Angelman syndrome candidate gene, UBE3AIE6-AP, is imprinted in brain
Rougeulle, C., Glatt, H., & Lalande, M. (1997) · Nature Genetics · doi:10.1038/ng0997-14 · Cited by 416
Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
Vu, T. H., & Hoffman, A. R. (1997) · Nature Genetics · doi:10.1038/ng0997-12 · Cited by 321
Research works printed but not linked: 1
- 10.1352/0895-8017(1999)104<0260:SBAPSB>2.0.CO;2 · DOI
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Cassidy, S. B., Schwartz, S., Miller, J. L., & Driscoll, D. J. (2012) · Genetics in Medicine · doi:10.1038/gim.0b013e31822bead0 · Cited by 1,452
The genetics of autistic disorders and its clinical relevance: a review of the literature
Freitag, C. M. (2007) · Molecular Psychiatry · doi:10.1038/sj.mp.4001896 · Cited by 638
Cassidy, S. B., & Driscoll, D. J. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.165 · Cited by 593
Recommendations for the Diagnosis and Management of Prader-Willi Syndrome
Goldstone, A. P., Holland, A. J., Hauffa, B. P., Hokken‐Koelega, A. C. S., & Tauber, M. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0649 · Cited by 523
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13
Hogart, A., Wu, D., LaSalle, J. M., & Schanen, N. C. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.08.011 · Cited by 361
Metadata
- 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.
- 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
- 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
- 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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