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- W2141036010 abstract "Medium chain acyl-CoA dehydrogenase (MCAD) deficiency, the most common defect in β -oxidation of fatty acids, occurs in approximately 1 in 15 000 live births. With the disorder, intolerance to fasting, impaired ketogenesis, and hypoglycemic coma may lead to metabolic crisis and/or irreversible neurological impairment. Although most states now test newborns for MCAD, few publications address treatment of children with MCAD deficiency or the stress parents may experience in caring for their children. Parents of all children with MCAD deficiency identified by newborn screening and followed by the Biochemical Genetics Clinic in Washington State were surveyed via a questionnaire specific to MCAD to determine treatment and management practices and were given the Parenting Stress Index—Short Form questionnaire. Seventy-eight percent (n = 11) of eligible parents responded. The mean parenting stress score among respondents (60) was significantly lower (P = .01) than were normative levels for the US population (71). Openended survey questions indicated that clear guidelines for management and treatment, as well as personal and professional support, may contribute to the relatively low parenting stress levels recorded in this population, thus providing some insight into what services health care providers should offer to parents of a child with MCAD deficiency." @default.
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- W2141036010 date "2010-04-13" @default.
- W2141036010 modified "2023-09-23" @default.
- W2141036010 title "Assessment of Parenting Stress Related to Treatment and Management of a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency Identified by Newborn Screening" @default.
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- W2141036010 doi "https://doi.org/10.1177/1941406410366160" @default.
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