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A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health
American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1493-1500
Cianfaglione, Rina
Clarke, Angus
Kerr, Mike
Hastings, Richard P.
Oliver, Chris
Felce, David
2015
Details
Autor(en) / Beteiligte
Cianfaglione, Rina
Clarke, Angus
Kerr, Mike
Hastings, Richard P.
Oliver, Chris
Felce, David
Titel
A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health
Ist Teil von
American journal of medical genetics. Part A, 2015-07, Vol.167A (7), p.1493-1500
Ort / Verlag
United States: Blackwell Publishing Ltd
Erscheinungsjahr
2015
Link zum Volltext
Quelle
Wiley Online Library - AutoHoldings Journals
Beschreibungen/Notizen
As part of a wider study to investigate the behavioral phenotype of a national sample of girls and women with Rett syndrome (RTT) in comparison to a well‐chosen contrast group and its relationship to parental well‐being, the development, clinical severity, current abilities and health of 91 participants were analyzed in relation to diagnostic, clinical and genetic mutation categories. Early truncating mutations or large deletions were associated with greater severity. Early regression was also associated with greater severity. All three were associated with lower current abilities. Epilepsy and weight, gastrointestinal and bowel problems were common co‐morbidities. Participants with classic RTT had greater health problems than those with atypical RTT. A substantial minority of respondents reported fairly frequent signs of possible pain experienced by their relative with RTT. Overall, the study provides new data on the current abilities and general health of people with RTT and adds to the evidence that the severity of the condition and variation of subsequent disability, albeit generally within the profound range, may be related to gene mutation. The presence of certain co‐morbidities represents a substantial ongoing need for better health. The experience of pain requires further investigation. © 2015 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.37027
Titel-ID: cdi_proquest_miscellaneous_1701477077
Format
–
Schlagworte
Body Weight - physiology
,
clinical characteristics
,
Epilepsy - pathology
,
Female
,
Gastrointestinal Tract - pathology
,
health
,
Health Status
,
Humans
,
intellectual disabilities
,
MECP2
,
Methyl-CpG-Binding Protein 2 - genetics
,
Mutation - genetics
,
Rett syndrome
,
Rett Syndrome - epidemiology
,
Rett Syndrome - genetics
,
Rett Syndrome - pathology
,
Statistics, Nonparametric
,
Surveys and Questionnaires
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