Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Rebecca H. Mount"'
Publikováno v:
Journal of Autism and Developmental Disorders. 45:2624-2627
Elevated laughing and smiling is a key characteristic of the Angelman syndrome behavioral phenotype, with cross-sectional studies reporting changes with environment and age. This study compares levels of laughing and smiling in 12 participants across
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::537fb12a49ad4dc97c041926abe73aeb
https://doi.org/10.1007/s10803-015-2404-y
https://doi.org/10.1007/s10803-015-2404-y
Publikováno v:
Journal of Intellectual Disability Research. 55:339-350
Background Individuals with Angelman syndrome appear strongly motivated by social contact, but there have been few studies that have examined the relationship between sociability and familiarity. In this study we compared social behaviour in Angelman
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::156457b755aefb4367a854a5c8fadd76
https://doi.org/10.1111/j.1365-2788.2010.01364.x
https://doi.org/10.1111/j.1365-2788.2010.01364.x
Autor:
Alison Kerr, Hilary Cass, David J. Bunyan, Gun Peggy Knudsen, Veronica Mash, Hayley Archer, Jacqueline Perry, Sharon D. Whatley, Aoibhinn McDonnell, Mary T. Gardiner, Tony Charman, Sheena Reilly, Angus John Clarke, Karen Helene Ørstavik, Rebecca H. Mount, Mark E.S. Bailey, Richard P. Hastings, Maj Hultén, Kirstine Ravn, Tracey C. S. Neilson
Publikováno v:
European Journal of Human Genetics. 13:1121-1130
We aimed to improve the understanding of genotype-phenotype correlations in Rett syndrome (RS) by adopting a novel approach to categorising phenotypic dimensions - separating typicality of presentation, outcome severity and age of onset - and by clas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dada6b9677205a93c1082f91fcf8b4d
https://doi.org/10.1038/sj.ejhg.5201471
https://doi.org/10.1038/sj.ejhg.5201471
Publikováno v:
Journal of Intellectual Disability Research. 48:672-678
Background Rett syndrome is a neurodevelopmental disorder that almost exclusively affects females. In addition to neurodevelopmental regression and loss of hand skills, apraxia, deceleration of head growth, and increasing spasticity and scoliosis, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b40dce6d25688dc05209210610d2aa15
https://doi.org/10.1111/j.1365-2788.2003.00590.x
https://doi.org/10.1111/j.1365-2788.2003.00590.x
Publikováno v:
Journal of Autism and Developmental Disorders. 33:435-442
It has long been recognized that there is phenotypic overlap between Rett syndrome (RS) and autism. Advances in our clinical and genetic understanding of RS over the past decade have made clear that the cause and course of RS and autism are distinct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27a16b62aea4a6c535f572b4b43843be
https://doi.org/10.1023/a:1025066913283
https://doi.org/10.1023/a:1025066913283
Publikováno v:
Journal of Intellectual Disability Research. 46:619-624
Despite considerable interest in the genetic, physical and neurological aspects of Rett syndrome (RS), there have been few studies of associated behavioural and emotional features. Furthermore, few case studiesor surveys have included adult women wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a327081d9c24cc275c97d37fd67a572
https://doi.org/10.1046/j.1365-2788.2002.00442.x
https://doi.org/10.1046/j.1365-2788.2002.00442.x
Autor:
Rebecca H. Mount, Richard P. Hastings
Publikováno v:
Journal of Applied Research in Intellectual Disabilities. 14:381-391
Research and theory on behaviour problems in children with intellectual disabilities (IDs) have tended to focus on maintaining variables and present correlates of disorder. The present study focused on potential early correlates of behavioural proble
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e235780b5117f882ab0ad0922ff397c3
https://doi.org/10.1046/j.13602322.2001.00079.x
https://doi.org/10.1046/j.13602322.2001.00079.x
Publikováno v:
Journal of Autism and Developmental Disorders. 31:423-431
The Developmental Behavior Checklist (DBC; Einfeld & Tonge, 1995) is one of a very small number of psychopathology assessment instruments designed specifically for use with children and adolescents with mental retardation. In the present study, a fac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::216acb7857d3a4a2f72dd08e8782e33d
https://doi.org/10.1023/a:1010668703948
https://doi.org/10.1023/a:1010668703948
Publikováno v:
Journal of autism and developmental disorders. 33(4)
It has long been recognized that there is phenotypic overlap between Rett syndrome (RS) and autism. Advances in our clinical and genetic understanding of RS over the past decade have made clear that the cause and course of RS and autism are distinct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd0160c478ea616003d2c12c594162f3
https://pubmed.ncbi.nlm.nih.gov/12959422
https://pubmed.ncbi.nlm.nih.gov/12959422
Publikováno v:
Disability and rehabilitation. 23(3-4)
Purpose / Method : There is increasing agreement that many genetic disorders have characteristic behavioural phenotypes; that is genetic anomalies have specific effects on behaviour. In this paper the existing literature is reviewed with an aim to id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ab62ef5b0a21f504f60823a3e51bbd1
https://pubmed.ncbi.nlm.nih.gov/11247008
https://pubmed.ncbi.nlm.nih.gov/11247008