[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"doc-seo-454528-105":3,"detail-sidebar-cat-0-en-105":81,"doc-detail-454528-en":130},{"code":4,"msg":5,"data":6},0,"ok",{"site_id":7,"language":8,"slug":9,"title":10,"keywords":11,"description":12,"schema_data":13,"social_meta":74,"head_meta":76,"extra_data":78,"updated_unix":80},105,"en","navigating-adulthood-with-maple-syrup-urine-disease-patient-and-caregiver-perspectives-on-healthcare","Navigating Adulthood with Maple Syrup Urine Disease: Patient and Caregiver Perspectives on Healthcare","","Healthcare transition for adults with childhood-onset rare metabolic disorders remains poorly standardized, limiting evidence-based guidance for long-term outcomes. This qualitative case study examines lived experiences of adults with Maple Syrup Urine Disease and of caregivers supporting them. Semi-structured interviews reveal themes such as non-standard transition care, reduced emphasis on diet management, evolving symptoms, emerging adult health and mental health concerns, functional impacts across education and work, and the need for supports to achieve independent living.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/navigating-adulthood-with-maple-syrup-urine-disease-patient-and-caregiver-perspectives-on-healthcare/454528/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/navigating-adulthood-with-maple-syrup-urine-disease-patient-and-caregiver-perspectives-on-healthcare/454528.png","ImageObject",300,407,{"name":42,"@type":43},"Sarah ","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-29","2026-09-30",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",7,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"Why is healthcare transition planning important for adults with Maple Syrup Urine Disease?","Question",{"text":63,"@type":64},"Adults with Maple Syrup Urine Disease increasingly reach adulthood due to newborn screening, creating a need for transition planning that supports medical self-management and independent living. The document notes that evidence-based transition resources are limited by knowledge gaps on long-term outcomes.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"How was the study conducted and who participated?",{"text":68,"@type":64},"The study used a qualitative case study approach with adults with MSUD (n=10) and caregivers for adults with MSUD (n=8). Analysis drew from semi-structured interviews to identify common themes.",{"name":70,"@type":61,"acceptedAnswer":71},"What major concerns were reported about adult healthcare and transition?",{"text":72,"@type":64},"Themes include poor, non-standardized health care transition; less emphasis on dietary management; changing symptomatology; and emerging concerns such as comorbid adult-onset conditions, mental health issues, and lack of knowledgeable adult providers.","https://schema.org",{"og:url":32,"og:type":75,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":77,"canonical":32},"index,follow",{"doc_id":79,"site_id":7},454528,1792159805,{"code":4,"msg":82,"data":83},"success",[84,88,92,96,101,106,109,114,119,122,126],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":85,"show_sort_weight":86,"slug":87},"Story & Novel",90,"story-novel",{"id":26,"doc_module":4,"doc_module_name":25,"category_name":89,"show_sort_weight":90,"slug":91},"Literature",80,"literature",{"id":33,"doc_module":4,"doc_module_name":25,"category_name":93,"show_sort_weight":94,"slug":95},"Exam",70,"exam",{"id":97,"doc_module":4,"doc_module_name":25,"category_name":98,"show_sort_weight":99,"slug":100},5,"Comic",60,"comic",{"id":102,"doc_module":4,"doc_module_name":25,"category_name":103,"show_sort_weight":104,"slug":105},6,"Technology",50,"technology",{"id":55,"doc_module":4,"doc_module_name":25,"category_name":29,"show_sort_weight":107,"slug":108},40,"healthcare",{"id":110,"doc_module":4,"doc_module_name":25,"category_name":111,"show_sort_weight":112,"slug":113},8,"Research & Report",30,"research-report",{"id":115,"doc_module":4,"doc_module_name":25,"category_name":116,"show_sort_weight":117,"slug":118},9,"Religion & Spirituality",20,"religion-spirituality",{"id":117,"doc_module":4,"doc_module_name":25,"category_name":120,"show_sort_weight":117,"slug":121},"World Cup","world-cup",{"id":123,"doc_module":4,"doc_module_name":25,"category_name":124,"show_sort_weight":123,"slug":125},10,"Lifestyle","lifestyle",{"id":127,"doc_module":4,"doc_module_name":25,"category_name":128,"show_sort_weight":97,"slug":129},19,"General","general",{"code":4,"msg":82,"data":131},{"doc_id":79,"user_id":132,"nickname":42,"user_avatar":133,"doc_module":4,"category_id":55,"category_name":29,"doc_title":10,"doc_description":12,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":55,"is_deleted":4,"is_public":22,"is_downloadable":22,"audit_status":22,"page_count":139,"language":140,"language_code":8,"site_id":7,"html_lang":8,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":12,"update_tm":144,"read_time":145,"preview_page_count":4},962085320529,"https://ap-avatar.wpscdn.com/davatar_9964176cb1d06d4a9deccf72a44ae3dc","Northwell Health [https://orcid.org/0000-0002-6210-4214](https://orcid.org/0000-0002-6210-4214)  \nUniversity of California Los Angeles Health System: UCLA Health  \nTeachers College of Columbia University  \nFeinstein Institute for Medical Research Fertility Research Laboratory: Northwell Health Feinstein Institutes for Medical Research  \nMedStar Health Research Institute  \nThe Children's Hospital of Philadelphia  \nadult metabolic medicine, health care transition, maple syrup urine disease, long-term outcomes, qualitative research  \n December 25th, 2025  \n [https://doi.org/10.21203/rs.3.rs-8231788/v1](https://doi.org/10.21203/rs.3.rs-8231788/v1)  \n 􀁱 􀅏 This work is licensed under a Creative Commons Attribution 4.0 International License.  \nRead Full License  \nBackground: Medical advances in diagnosis and management have increased the life expectancy of many pediatric-onset rare diseases, including inherited metabolic disorders (IMDs) . Historically fatal childhood conditions are now manageable chronic illnesses, with over 90% of individuals with IMD reaching adulthood. As more individuals with IMDs reach adulthood (age 18 years), there is a new imperative for health care transition planning that promotes developmentally-appropriate skills for medical self-management and independent living. Knowledge gaps on the long-term disease-related outcomes limit our ability to provide evidence-based resources for transition. Maple Syrup Urine Disease (MSUD) is an IMD with a global incidence of 1:185,000 . It is typically diagnosed through population-level newborn screening, which allows for early treatment of dietary restrictions of branched chain amino acids and urgent intervention during episodes of catabolic stress. Due to the success of newborn screening program, there is a growing population of adults with MSUD, making it a model for exploring the current state of transition and adult outcomes in IMDs.  \nResults: We used a qualitative case study approach to assess the lived experiences of adults with MSUD (n=10) or caregivers to adults with MSUD (n=8) . Analysis of their semi-structured interviews identi«ed common themes including: (1) poor, non-standardized health care transition; (2) less emphasis on dietary management; (3) changing symptomatology with new presentations of fatigue, brain fog, and panic attacks; (3) emerging concerns related to adult health care, including comorbid adult-onset conditions, mental health, and lack of knowledgeable adult providers; (4) wide ranging functional outcomes for education, employment, and «nancial independence; and (5) meeting new milestones including romantic partnership and parenthood; and (6) greater concern about the supports needed to achieve independent living.  \nConclusions: Individuals with MSUD are reaching milestones of adulthood and have new priorities for their healthcare and lifestyle. Evidence-based healthcare transition is needed to support their transition to independent living.  \nModern medical advances have transformed many childhood-onset disorders in manageable chronic conditions with extended life expectancy and improved clinical and patient-reported outcomes.1–4 Thus, more adolescents and young adults (AYA, individuals aged 14–26 years) with special healthcare needs are reaching the critical transition period to adulthood with corresponding risks of lapses of healthcare and psychosocial supports. Transition-related challenges are magni«ed for AYA with rare disease due to the complexity of these disorders, frequent comorbid intellectual disability, lack of trained adult providers, and limited coordination between pediatric and adult care systems.5,6 The current healthcare transition (HCT), the planned, purposeful movement from pediatric to adult-centered healthcare, for this population is non-standardized and occurs infrequently in the United States.6,7 Transition should be developmentally-appropriate and address medical self-management, independent living skills,  \neducati","cbCaisTrYBgUHxhT","https://ap.wps.com/l/cbCaisTrYBgUHxhT","pdf",608571,27,"English","# Background\n# Results\n## Common themes\n# Conclusions\n# Context for healthcare transition in rare disease","[{\"question\":\"Why is healthcare transition planning important for adults with Maple Syrup Urine Disease?\",\"answer\":\"Adults with Maple Syrup Urine Disease increasingly reach adulthood due to newborn screening, creating a need for transition planning that supports medical self-management and independent living. The document notes that evidence-based transition resources are limited by knowledge gaps on long-term outcomes.\"},{\"question\":\"How was the study conducted and who participated?\",\"answer\":\"The study used a qualitative case study approach with adults with MSUD (n=10) and caregivers for adults with MSUD (n=8). Analysis drew from semi-structured interviews to identify common themes.\"},{\"question\":\"What major concerns were reported about adult healthcare and transition?\",\"answer\":\"Themes include poor, non-standardized health care transition; less emphasis on dietary management; changing symptomatology; and emerging concerns such as comorbid adult-onset conditions, mental health issues, and lack of knowledgeable adult providers.\"}]","Navigating Adulthood with Maple Syrup Urine Disease: Patient and Caregiver Perspectives on Healthcare | PDF",1790740849,68]