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Prader-Willi syndrome : A study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders

Prader-Willi syndrome : A study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders
Prader-Willi syndrome : A study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders
Prader Willi Syndrome (PWS) is a neuro-genetic disorder. It has been reported that cases due to paternal deletion 15q11-13 (Del) behave differently to cases due to uniparental disomy (UPD). Comparison of the two forms of PWS has, to date, not included the frequency of autistic behaviours, even though there are reports of an association between maternal duplications of 15q11-13 and autism spectrum disorders (ASD). It was predicted that maternal UPD PWS cases would be more prone to ASD than Del PWS cases due to their duplicated maternally expressed genes. A preliminary test of the hypothesis was conducted using postal and telephone surveys of matched, genetically verified, UPD and Del cases using the Autism Screening Questionnaire (ASQ) and the Vineland Adaptive Behaviour Scales (VABS). As predicted, UPD cases were reported as exhibiting significantly more autistic symptomatology. They also were born to older mothers and were reported on the VABS to have more deficits in motor control problems and fewer adaptive skills in the Daily Living Skills domain. Del cases were reportedly more skilled at jigsaw puzzles. The results lend further support to the notion that abnormality in the expression of maternal imprinted 15q11-13 genes may confer a susceptibility to ASD. They also suggest that there may be cognitive differences between the groups in processing visuo-spatial information.
Prader-Willi syndrome, autism spectrum disorders, autism, ASQ
1018-8827
42-50
Veltman, Marijcke W.M.
c7058408-7866-49ce-9807-e1b3eecfb4a6
Thompson, Russell J.
4f73d649-4980-45c7-9c05-0090683ebb20
Roberts, Sian E.
276e085c-847b-4134-9083-da8fce1f8122
Thomas, N. Simon
1a601957-288d-4f12-a9f7-4f4279b7f9b3
Whittington, Joyce
d74eb0ea-44a8-41ca-a578-cda1163156f4
Bolton, Patrick F.
2f8d64d8-1977-4020-9add-d571cb96f826
Veltman, Marijcke W.M.
c7058408-7866-49ce-9807-e1b3eecfb4a6
Thompson, Russell J.
4f73d649-4980-45c7-9c05-0090683ebb20
Roberts, Sian E.
276e085c-847b-4134-9083-da8fce1f8122
Thomas, N. Simon
1a601957-288d-4f12-a9f7-4f4279b7f9b3
Whittington, Joyce
d74eb0ea-44a8-41ca-a578-cda1163156f4
Bolton, Patrick F.
2f8d64d8-1977-4020-9add-d571cb96f826

Veltman, Marijcke W.M., Thompson, Russell J., Roberts, Sian E., Thomas, N. Simon, Whittington, Joyce and Bolton, Patrick F. (2004) Prader-Willi syndrome : A study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders. European Child & Adolescent Psychiatry, 13 (1), 42-50. (doi:10.1007/s00787-004-0354-6).

Record type: Article

Abstract

Prader Willi Syndrome (PWS) is a neuro-genetic disorder. It has been reported that cases due to paternal deletion 15q11-13 (Del) behave differently to cases due to uniparental disomy (UPD). Comparison of the two forms of PWS has, to date, not included the frequency of autistic behaviours, even though there are reports of an association between maternal duplications of 15q11-13 and autism spectrum disorders (ASD). It was predicted that maternal UPD PWS cases would be more prone to ASD than Del PWS cases due to their duplicated maternally expressed genes. A preliminary test of the hypothesis was conducted using postal and telephone surveys of matched, genetically verified, UPD and Del cases using the Autism Screening Questionnaire (ASQ) and the Vineland Adaptive Behaviour Scales (VABS). As predicted, UPD cases were reported as exhibiting significantly more autistic symptomatology. They also were born to older mothers and were reported on the VABS to have more deficits in motor control problems and fewer adaptive skills in the Daily Living Skills domain. Del cases were reportedly more skilled at jigsaw puzzles. The results lend further support to the notion that abnormality in the expression of maternal imprinted 15q11-13 genes may confer a susceptibility to ASD. They also suggest that there may be cognitive differences between the groups in processing visuo-spatial information.

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More information

Published date: February 2004
Keywords: Prader-Willi syndrome, autism spectrum disorders, autism, ASQ
Organisations: Human Genetics

Identifiers

Local EPrints ID: 25012
URI: http://eprints.soton.ac.uk/id/eprint/25012
ISSN: 1018-8827
PURE UUID: 4b41d970-9143-49cb-a227-6300a5609161

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Date deposited: 04 Apr 2006
Last modified: 15 Mar 2024 06:59

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Contributors

Author: Marijcke W.M. Veltman
Author: Russell J. Thompson
Author: Sian E. Roberts
Author: N. Simon Thomas
Author: Joyce Whittington
Author: Patrick F. Bolton

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