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Unexplained childhood disorders

New Rochelle, NY, October 13, 2010Parents of children with undiagnosed learning disorders, developmental deficits, and congenital abnormalities face a host of psychological and social challenges, which are explored in detail in a reflective article in Genetic Testing and Molecular Biomarkers, a peer-reviewed journal published by Mary Ann Liebert, Inc. ( The article is available free online ahead of print at

An interview-based study of parents of children with undiagnosed disorders describes the parental experience as a "journey" comprised of an inner, emotional journey and an outer-world, sociological experience. Celine Lewis, from Genetic Alliance UK (London) and Heather Skirton and Ray Jones, from the University of Plymouth (UK), identify the primary components of this multifaceted journey in the article entitled "Living Without a Diagnosis: The Parental Experience." A commonly expressed theme among the study participants was the sense of frustration that is present throughout their experiences.

Many of the experiences described during the interviews are similar to those expressed by parents of children with known disabilities. These include the initial recognition and acceptance of the disorder and the process of pursuing a diagnosis, which are components of the inner journey. Additionally, shared social or outer-world experiences might include the interaction with members of the child's healthcare team and dealing with issues such as education and housing. The questioning and uncertainty associated with undiagnosed disorders in children adds another layer of complexity to the challenges these parents face, conclude the authors of the study.

"The article is a vivid illustration of the impact of a genetic disease, the benefit of a diagnosis, and the ongoing challenge of care to the patient and family after the diagnosis," says Kenneth I. Berns, MD, PhD, Editor-in-Chief of Genetic Testing and Molecular Biomarkers, and Director of the University of Florida's Genetics Institute, College of Medicine, Gainesville, FL.


Contact: Vicki Cohn
Mary Ann Liebert, Inc./Genetic Engineering News

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