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Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.
MedLine Citation:
PMID:  22142442     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Background  Recent advances in genetics are particularly relevant in the field of intellectual disability (ID), where sub-microscopic deletions or duplications of genetic material are increasingly implicated as known or suspected causal factors. Data-driven reports on the impact of providing an aetiological explanation in ID are needed to help justify widespread use of new and expensive genetic technologies. Methods  We conducted a survey of caregivers on the value of a genetic/aetiologic diagnosis of 22q11.2 deletion syndrome (22q11.2DS), the most common microdeletion syndrome in ID. We also surveyed the opinion of a high-functioning subset of adults with 22q11.2DS themselves. We used standard quantitative and qualitative methods to analyse the responses. Results  In total, 73 of 118 surveys were returned (61.9%). There was convergence of quantitative and qualitative results, and consistency between adult patient and caregiver responses. A definitive molecular diagnosis of 22q11.2DS was a critical event with diverse positive repercussions, even if occurring later in life. Frequently cited benefits included greater understanding and certainty, newfound sense of purpose and a platform for advocacy, and increased opportunities to optimise medical, social and educational needs. Conclusions  This is the first study to characterise the impact of a diagnosis of this representative microdeletion syndrome on adult patients and their families. The results both validate and expand on the theoretical benefits proposed by clinicians and researchers. The use of genome-wide microarray technologies will provide an increasing number of molecular diagnoses. The importance of a diagnosis of 22q11.2DS demonstrated here therefore has implications for changing attitudes about molecular genetic diagnosis that could benefit individuals with ID of currently unknown cause and their families.
Authors:
G Costain; E W C Chow; P N Ray; A S Bassett
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-12-6
Journal Detail:
Title:  Journal of intellectual disability research : JIDR     Volume:  -     ISSN:  1365-2788     ISO Abbreviation:  -     Publication Date:  2011 Dec 
Date Detail:
Created Date:  2011-12-6     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9206090     Medline TA:  J Intellect Disabil Res     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd.
Affiliation:
Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, ON, Canada Institute of Medical Science, University of Toronto, Toronto, ON, Canada Department of Psychiatry, University of Toronto, Toronto, ON, Canada Division of Molecular Genetics, Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada Division of Cardiology, Department of Medicine, University Health Network, Toronto, ON, Canada.
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