Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome

Holland, Anthony; Whittington, Joyce; Butler, Jill; Webb, Thompson; Boer, Harm; Clarke, David J.

doi:10.1017/s0033291702006736

Cited by 171 publications

(187 citation statements)

References 33 publications

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“…125 In most studies, those with UPD have a somewhat higher verbal IQ and milder behavior problems. 19,126,127 However, psychosis 128 and autism spectrum disorders 129,130 occur with significantly greater frequency among those with UPD. Individuals with the slightly larger, type 1 deletions (BP1-BP3) have been reported…”

Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

1,111

1,193

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Section: Genotype-phenotype Correlationsmentioning

confidence: 99%

Prader-Willi syndrome

Cassidy

Schwartz

Miller

et al. 2012

Genetics in Medicine

1,111

1,193

View full text Add to dashboard Cite

“…In other cases occurrences of the imprinting phenomenon or other rearrangements of chromosome 15 are reported. The disease incidence is 1: 10,000 to 30,000 births 1.2. The cognitive and behavioral phenotype observed in people with PWS is characterized by frequent episodes of hyperphagia, stealing food, tantrums, lying behavior, mood swings, anxiety, sadness, aggression and auto aggression, stubbornness and repetitive speech, hypersomnia, compulsive behaviors, deficits in cognitive abilities such as attention and executive functions (especially inhibitory control, working memory and self-regulation) and deficits in visuospatial skills [3][4][5][6][7] . Of these described characteristic phenotypes, the problems most difficult to manage are hyperphagia; stubborn behavioral patterns; challenging, aggressive, oppositional and manipulative behaviours; food theft and lying, which become more frequent and severe with increasing age [8][9][10][11] .…”

Section: Introductionmentioning

confidence: 99%

Treino parental para manejo comportamental de crianças com Síndrome de Prader-Willi: impacto sobre a saúde mental e práticas educativas do cuidador

et al. 2016

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RESUMO Objetivo: verificamos os indicadores de impacto na saúde mental de cuidadores de um programa de treinamento parental para manejo de crianças e adolescentes com Síndrome de Prader-Willi. Métodos: a amostra foi composta por 5 mães de crianças/adolescentes com Síndrome de Prader-Willi entre 6 a 18 anos. Os instrumentos de coleta de dados foram: a) Questionário para verificação de conhecimentos das mães sobre a síndrome, b) Inventário de Auto-avaliação para Adultos de 18 a 59 anos, c) Inventário de Estilos Parentais/Práticas educativas maternas e paternas; d) Levantamento de dificuldades e preocupações sobre os filhos. O estudo foi realizado em quatro fases: pré-intervenção, intervenção, pós-intervenção e seguimento. Resultados: as mães passaram a adotar práticas parentais educativas baseadas na monitoria positiva, diminuíram as práticas de risco. Conclusão: houve melhora em indicadores de dificuldades emocionais das mães, apreenderam a identificar e manejar fatores que prejudicavam a saúde física, o comportamento e a aprendizagem escolar dos filhos e a necessidade do envolvimento de outros familiares no cuidado do filho.

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“…2013); in Prader–Willi syndrome, the risk of overeating and life‐threatening obesity (Holland et al . 2003); and in the case of people with autism, which is associated with some neurodevelopmental syndromes, an aversion to social encounters.…”

Section: Stakeholder Views On the Utility Of Syndrome‐specific Knowledgementioning

confidence: 99%

Improving the Health and Well‐Being of Adults With Conditions of a Genetic Origin: Views from Professionals, Syndrome Support Groups and Parents

Redley

Pannebakker

Holland

2016

Research Intellect Disabil

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BackgroundAdvances in medical genetics herald the possibility that health and social care services could be more responsive to the needs arising from a person's genotype. This development may be particularly important for those men and women whose learning disability (known internationally as intellectual disability) is linked to a neurodevelopmental condition of genetic origin.MethodThis possibility is tested through interviews with samples of (i) professional ‘opinion former’ with nationally recognised clinical and/or academic interests in learning disabilities and genetics; (ii) representatives of syndrome organisations prompting the interests of families where someone has a neurodevelopmental condition, and parent‐members of these same organisations.ResultsThe reporting and discussion of the interview data considers the possibility that notwithstanding the successes of the social model of disability, the health and wellbeing of people whose learning disability is associated with a neurodevelopmental condition could be better served by a more medicalised approach to their interests.ConclusionWhile a more medicalised approach to this populations’ disabilities would appear to be beneficial, so long as it is focused on interventions to improve their lives rather than catalogues their deficiencies.

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Behavioural phenotypes associated with specific genetic disorders: evidence from a population-based study of people with Prader-Willi syndrome

Cited by 171 publications

References 33 publications

Prader-Willi syndrome

Prader-Willi syndrome

Treino parental para manejo comportamental de crianças com Síndrome de Prader-Willi: impacto sobre a saúde mental e práticas educativas do cuidador

Improving the Health and Well‐Being of Adults With Conditions of a Genetic Origin: Views from Professionals, Syndrome Support Groups and Parents

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