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Pediatric Neurometabolic Disorders: Medical Needs, Service Use, and Impact of Disease on the Family

Diaz, Jullianne
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396523557

Abstract Details

2014, MS, University of Cincinnati, Medicine: Genetic Counseling.
Background: Inborn errors of metabolism include many rare genetic disorders with significant morbidity and mortality. A subtype of these disorders, neurometabolic diseases have a variable presentation with both neurologic and non-neurologic symptoms. Presently, few evidence-based guidelines exist to standardize patient care across centers and providers. Due to the absence of such recommendations, the purpose of this study was to characterize the medical needs, service use, and family impact of pediatric neurometabolic disease. Methods: An online survey was created to assess these areas. The study population was comprised of primary caregivers of children (ages 0-17) managed in a neurometabolic clinic at Cincinnati Children’s Hospital. Study invitations were sent to 132 eligible caregivers. Results: In total, 25 surveys were included in analysis resulting in a participation rate of 19%. Known diagnoses were reported for 60% of children with the most common being mitochondrial disorders, metachromatic leukodystrophy, and Batten disease. The most frequent medical problems were due to neurological (88%) and musculoskeletal symptoms (80%). Health concerns and functional limitations resulted in increased needs for services such as therapies (100%), educational supports (85.7%), and specialty medical care (75%). Financial stress (67%) was the most commonly reported factor impacting caregiver stress level. Many support services were desired by the cohort with 60% indicating they would like to be involved in support groups. Conclusions: This study provides evidence to better inform the care and genetic counseling needs of children with neurometabolic disorders and their families. The data delineates the medical needs and service use of this population, supporting the idea that multidisciplinary clinics may help to comprehensively meet their complex needs. Caregivers of children with neurometabolic disorders face a significant burden of care and could benefit from increased availability of support services.
Thomas Burrow, M.D. (Committee Chair)
Valentina Pilipenko, Ph.D. (Committee Member)
Barbara Hallinan, M.D. Ph.D. (Committee Member)
Christine Spaeth, M.S. C.G.C. (Committee Member)
60 p.
Surgery
primary caregiver survey; pediatric neurometabolic disorders; medical needs; service use; family impact of disease

Recommended Citations

Citations

  • Diaz, J. (2014). Pediatric Neurometabolic Disorders: Medical Needs, Service Use, and Impact of Disease on the Family [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396523557

    APA Style (7th edition)

  • Diaz, Jullianne. Pediatric Neurometabolic Disorders: Medical Needs, Service Use, and Impact of Disease on the Family. 2014. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396523557.

    MLA Style (8th edition)

  • Diaz, Jullianne. "Pediatric Neurometabolic Disorders: Medical Needs, Service Use, and Impact of Disease on the Family." Master's thesis, University of Cincinnati, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396523557

    Chicago Manual of Style (17th edition)

ucin1396523557
591
© 2014, all rights reserved.
This open access ETD is published by University of Cincinnati and OhioLINK.