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

  • Original Research
  • Published:
Journal of Genetic Counseling

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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Authors and Affiliations

  1. 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. Carter & Patricia Robbins-Furman

  2. Department of Pediatrics Division of Medical Genetics, University of Texas Medical School at Houston, Houston, TX, USA

    Marianna Raia

  3. Children’s Learning Institute Department of Pediatrics, University of Texas Medical School at Houston, Houston, TX, USA

    Linda Ewing-Cobbs

  4. Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA

    Michael Gambello

  5. Department of Pediatrics - Pediatric Research Center, University of Texas Medical School at Houston, Houston, TX, USA

    S. Shahrukh Hashmi

  6. Department of Behavioral Science, The University of Texas MD Anderson Cancer Center, Houston, TX, USA

    Susan K. Peterson

  7. Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children’s Hospital, Houston, TX, USA

    Lorraine Potocki

Authors
  1. Rebecca D. Carter
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  2. Marianna Raia
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  3. Linda Ewing-Cobbs
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  4. Michael Gambello
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  5. S. Shahrukh Hashmi
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  6. Susan K. Peterson
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  7. Patricia Robbins-Furman
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  8. Lorraine Potocki
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Correspondence to Rebecca D. Carter.

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Carter, R.D., Raia, M., Ewing-Cobbs, L. et al. Stress and Well-Being Among Parents of Children with Potocki-Lupski Syndrome. J Genet Counsel 22, 633–642 (2013). https://doi.org/10.1007/s10897-013-9602-6

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  • DOI: https://doi.org/10.1007/s10897-013-9602-6

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