Pauline Both1, Lyenne Ten Holt2, Sabine Mous2, Joke Patist3, André Rietman2, Gwen Dieleman2, Leontine Ten Hoopen2, Menno Vergeer3, Marie-Claire de Wit4, Karen Bindels-de Heus5, Henriëtte Moll5, Agnies van Eeghen6. 1. ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands; Intellectual Disability Medicine, Department of General Practice, Erasmus Medical Center, Rotterdam, The Netherlands. 2. ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Child and Adolescent Psychiatry/Psychology, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands. 3. Department of Internal Medicine and Infectious Diseases, University Medical Center Utrecht, Utrecht, The Netherlands. 4. ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Pediatric Neurology, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands. 5. ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands; Department of General Pediatrics, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands. 6. ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands; Intellectual Disability Medicine, Department of General Practice, Erasmus Medical Center, Rotterdam, The Netherlands; Department of General Pediatrics, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands; The Hartekamp Group, Care and Service for People with Intellectual Disabilities, Haarlem, The Netherlands. Electronic address: a.vaneeghen@erasmusmc.nl.
Abstract
INTRODUCTION: Transitioning into adulthood and from pediatric services to adult healthcare are both challenging processes for young adults with rare chronic disorders such as tuberous sclerosis complex (TSC) and their parents. Adult healthcare systems are often less family-oriented and lack multidisciplinary care and experience with TSC, which can result in increased health risks and morbidity. Patient-driven data on care needs are necessary to optimize support for this vulnerable patient group. AIM: The aim of this study was to explore the concerns and care needs of young adult patients with TSC in medical, psychological, and socioeconomical domains. METHOD: A qualitative study was performed using semistructured interviews with 16 patients (median age: 21years; range: 17 to 30) and 12 parents. Concerns and care needs were organized using the International Classification of Functioning, Disability, and Health (ICF). RESULTS: Main concerns involved mental and physical health, participation, self-management skills, family planning, and side effects of medications. Patients expressed the need for multidisciplinary care that is well-informed, easily accessible, and focused on the patient as a whole, including his/her family. Parents reported high stress levels. CONCLUSION: The current study provides patient-driven information, allowing recommendations to facilitate the (transition of) care for young adults with TSC. In addition to seizures, tumor growth, and TSC-associated neuropsychiatric disorders (TAND), more attention is needed for concerns and care needs specific to the transitional period, participation, and environmental factors. Adult healthcare providers should offer expert multidisciplinary care for adult patients with TSC, including attention for parental stress.
INTRODUCTION: Transitioning into adulthood and from pediatric services to adult healthcare are both challenging processes for young adults with rare chronic disorders such as tuberous sclerosis complex (TSC) and their parents. Adult healthcare systems are often less family-oriented and lack multidisciplinary care and experience with TSC, which can result in increased health risks and morbidity. Patient-driven data on care needs are necessary to optimize support for this vulnerable patient group. AIM: The aim of this study was to explore the concerns and care needs of young adult patients with TSC in medical, psychological, and socioeconomical domains. METHOD: A qualitative study was performed using semistructured interviews with 16 patients (median age: 21years; range: 17 to 30) and 12 parents. Concerns and care needs were organized using the International Classification of Functioning, Disability, and Health (ICF). RESULTS: Main concerns involved mental and physical health, participation, self-management skills, family planning, and side effects of medications. Patients expressed the need for multidisciplinary care that is well-informed, easily accessible, and focused on the patient as a whole, including his/her family. Parents reported high stress levels. CONCLUSION: The current study provides patient-driven information, allowing recommendations to facilitate the (transition of) care for young adults with TSC. In addition to seizures, tumor growth, and TSC-associated neuropsychiatric disorders (TAND), more attention is needed for concerns and care needs specific to the transitional period, participation, and environmental factors. Adult healthcare providers should offer expert multidisciplinary care for adult patients with TSC, including attention for parental stress.
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