title: Stress and well-being among parents of children with Potocki-Lupski syndrome.
abstract: 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.
authors.affiliation: Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas Medical School at Houston, 6410 Fannin St., Ste. 1217, Houston, TX, USA, 77030, Rebecca.D.Sample@uth.tmc.edu.
authors.forename: Rebecca D
authors.initials: RD
authors.lastname: Carter
authors.forename: Marianna
authors.initials: M
authors.lastname: Raia
authors.forename: Linda
authors.initials: L
authors.lastname: Ewing-Cobbs
authors.forename: Michael
authors.initials: M
authors.lastname: Gambello
authors.forename: S Shahrukh
authors.initials: SS
authors.lastname: Hashmi
authors.forename: Susan K
authors.initials: SK
authors.lastname: Peterson
authors.forename: Patricia
authors.initials: P
authors.lastname: Robbins-Furman
authors.forename: Lorraine
authors.initials: L
authors.lastname: Potocki
mesh_terms: D000015:Abnormalities, Multiple; D000223:Adaptation, Psychological; D002648:Child; D025063:Chromosome Disorders; D058674:Chromosome Duplication; D006801:Humans; D010290:Parents / Q000523:psychology*; D058496:Smith-Magenis Syndrome / Q000235:genetics* / Q000503:physiopathology / Q000523:psychology; D013315:Stress, Psychological