Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome
| العنوان: | Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome |
|---|---|
| المؤلفون: | Maggie Paulich, Christina Theodore-Oklota, Hans T. Bjornsson, Deborah S. Hartman, Shayna Egan, Deborah Hoffman, Christopher J. Evans |
| المساهمون: | Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands, University of Iceland |
| المصدر: | American Journal of Medical Genetics. Part a |
| بيانات النشر: | Wiley, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | Adult, Male, Parents, medicine.medical_specialty, Emotions, Burden, Erfðasjúkdómar, Infections, Affect (psychology), burden, Young Adult, Seizures, Surveys and Questionnaires, Patient experience, Genetics, medicine, Humans, Abnormalities, Multiple, survey, Hearing Loss, Psychiatry, Survey, caregiver, Genetics (clinical), Depression (differential diagnoses), Kabuki syndrome, business.industry, Genetic disorder, Original Articles, Middle Aged, medicine.disease, Caregiver, Hematologic Diseases, Additional research, Caregivers, Vestibular Diseases, Face, Autism, Anxiety, Female, Original Article, medicine.symptom, Deglutition Disorders, business |
| الوصف: | Publisher's version (útgefin grein) Kabuki syndrome is a genetic disorder that can affect multiple body systems and manifest as congenital abnormalities and both developmental and socio-emotional delays. The condition is largely unknown by most primary care physicians and has no available treatment other than symptomatic management. This research sought to obtain caregiver-reported data about the experience of living with and caring for someone with Kabuki syndrome to fill a gap in the available literature. Fifty-seven caregivers participated in an online survey and reported that Kabuki syndrome affected their children in a wide variety of ways, including a high frequency of visits to various healthcare professionals. Caregivers reported their child experienced problems with hearing, eating, eyes, mouth, immune system, anxiety, depression, autism, teeth, joints, seizures, kidneys, and heart. Caregivers also described the challenges of caring for someone with Kabuki syndrome, including an impact on emotional well-being and the ability to work outside the home. This unique research characterizes the caregiver experience of living with and caring for someone with Kabuki syndrome, both through observed manifestations of Kabuki syndrome in their own children and their experience managing their treatment. Additional research is needed to investigate the patient experience of living with Kabuki syndrome. Rene King, President & Founder, All Things Kabuki Inc. was essential to participant recruitment and the overall success of this study. Siobhan McDonald from Endpoint Outcomes assisted with recruitment and survey administration. Caitlin Pohl from Endpoint Outcomes contributed to the design of the study, survey administration, and data analysis. Christina Theodore‐Oklota is employed by Ultragenyx Pharmaceutical Inc. who funded this research. Deborah Hartman and Deborah Hoffman were employed by Takeda Pharmaceuticals at the time this research was conducted. Chris Evans, Maggie Paulich, and Shayna Egan are employed by Endpoint Outcomes who was paid to conduct this research. Hans T. Björnsson is a consultant for Millennium Pharmaceuticals. |
| اللغة: | English |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4293dc8334bb01ed3d9793e785bf8098Test https://hdl.handle.net/20.500.11815/2311Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4293dc8334bb01ed3d9793e785bf8098 |
| قاعدة البيانات: | OpenAIRE |
| الوصف غير متاح. |