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Stress and Well‐Being Among Parents of Children with Potocki‐Lupski Syndrome
Author(s) -
Carter Rebecca D.,
Raia Marianna,
EwingCobbs Linda,
Gambello Michael,
Hashmi S. Shahrukh,
Peterson Susan K.,
RobbinsFurman Patricia,
Potocki Lorraine
Publication year - 2013
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-013-9602-6
Subject(s) - psychosocial , coping (psychology) , failure to thrive , autism , psychology , hypotonia , quality of life (healthcare) , clinical psychology , medicine , pediatrics , developmental psychology , psychiatry , psychotherapist
Potocki‐Lupski syndrome (PTLS) or duplication 17p11.2 syndrome is a newly characterized condition causing a variety of health problems with variable severity, including failure to thrive in infancy and childhood, hypotonia, structural heart anomalies, cognitive impairments, speech and learning difficulties, and autism. Due to its recent clinical characterization little is known about the psychosocial impact of this condition on patients and their families. This study evaluated whether parental psychosocial outcomes were associated with children's PTLS disease severity. Parents of 58 children with PTLS completed a cross‐sectional survey that assessed parental stress, quality of life, and coping skills. Parental functioning was associated with greater severity of feeding difficulty and with lower severity of a cardiovascular defect. Findings from this study highlight potential support needs of parents of children affected by PTLS and suggest ways in which these needs may be addressed.