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, 22 (5), 633-42

Stress and Well-Being Among Parents of Children With Potocki-Lupski Syndrome

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Stress and Well-Being Among Parents of Children With Potocki-Lupski Syndrome

Rebecca D Carter et al. J Genet Couns.

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.

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Cited by 1 PubMed Central articles

  • A New Patient With Potocki-Lupski Syndrome: A Literature Review
    AD Praticò et al. J Pediatr Genet 7 (1), 29-34. PMID 29441219. - Case Reports
    Speech delay, intellectual disability, and behavioral disturbances are the main clinical manifestations of Potocki-Lupski syndrome. Other features include infantile hypot …

References

    1. Health Qual Life Outcomes. 2008 May 20;6:35 - PubMed
    1. J Dev Behav Pediatr. 2010 Feb-Mar;31(2):137-43 - PubMed
    1. Am J Hum Genet. 2010 Mar 12;86(3):462-70 - PubMed
    1. J Pediatr Psychol. 1996 Oct;21(5):735-49 - PubMed
    1. Curr Opin Genet Dev. 2007 Jun;17(3):182-92 - PubMed

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