{
    "abstract": "The transition from pediatric to adult care in Duchenne Muscular Dystrophy (\nWe present the case of a 17-year-old Romanian \nCare followed international standards, but the disease progressed predictably, with gradual loss of ambulation, respiratory decline, and cardiac complications. The TRAQ revealed strengths in communication with healthcare providers but moderate confidence in self-management tasks. From the patient's perspective, fragmented adult services and difficulty accessing specialized neuromuscular support remain major obstacles, underscoring the importance of early, structured transition planning and patient-centered approaches.\nTransitioning to adult services requires strong communication between pediatric and adult teams and integration of specialized care. Tailored follow-up plans ensure continuity of care and effective disease management. This case reflects broader needs in similar healthcare contexts, highlighting the necessity of robust transition frameworks to respond to patient-specific challenges and ultimately support long-term quality of life.",
    "authors": [
        {
            "affiliation": "Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.",
            "firstname": "Maria",
            "initials": "M",
            "lastname": "Lupu"
        },
        {
            "affiliation": "Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.",
            "firstname": "Maria-Alexandra",
            "initials": "MA",
            "lastname": "Marcu"
        },
        {
            "affiliation": "Department of Paediatric Neurology, Dr Victor Gomoiu Children's Hospital, 022102 Bucharest, Romania.",
            "firstname": "Diana Anamaria",
            "initials": "DA",
            "lastname": "Epure"
        },
        {
            "affiliation": "Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.\nDepartment of Paediatric Neurology, Dr Victor Gomoiu Children's Hospital, 022102 Bucharest, Romania.",
            "firstname": "Oana Aurelia",
            "initials": "OA",
            "lastname": "Vladacenco"
        },
        {
            "affiliation": "Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.",
            "firstname": "Emilia Maria",
            "initials": "EM",
            "lastname": "Severin"
        },
        {
            "affiliation": "Faculty of Medicine, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania.\nDepartment of Paediatric Neurology, Dr Victor Gomoiu Children's Hospital, 022102 Bucharest, Romania.",
            "firstname": "Raluca Ioana",
            "initials": "RI",
            "lastname": "Teleanu"
        }
    ],
    "conclusions": null,
    "copyrights": null,
    "doi": "10.3390/healthcare13070830\n10.1016/S1474-4422(18)30024-3\n10.3390/medicina56090426\n10.1016/S1474-4422(18)30025-5\n10.1016/S1474-4422(09)70272-8\n10.3390/ijms26041685\n10.3390/children10060959\n10.1016/S1474-4422(18)30026-7\n10.1186/s42466-022-00206-8\n10.1542/peds.2018-0333M\n10.1002/humu.22758\n10.1016/S0140-6736(17)31611-2\n10.1002/mus.24332\n10.1371/journal.pone.0237803\n10.1007/s00246-020-02470-4\n10.1055/s-0039-1698437\n10.4103/jnrp.jnrp_426_17\n10.1016/j.nmd.2021.02.015\n10.1016/j.jsmc.2020.08.011\n10.1016/j.nmd.2016.11.012\n10.3109/09638288.2014.956187\n10.1016/S1054-139X(03)00208-8\n10.1186/1750-1172-7-S2-A8\n10.1111/j.1099-0860.2012.00437.x\n10.1542/peds.2011-0969\n10.1161/CIRCIMAGING.110.960740\n10.1002/ppul.23215\n10.1161/JAHA.117.006340\n10.1542/peds.2018-0333D\n10.1371/journal.pone.0135189\n10.22037/ijcn.v16i1.33282\n10.1007/s12035-019-01845-w\n10.12688/wellcomeopenres.15762.1\n10.1111/j.1750-3639.1996.tb00783.x\n10.1038/s41467-025-56644-w\n10.3402/qhw.v11.32045\n10.1093/jpepsy/jsn067\n10.1016/j.nmd.2007.06.465",
    "journal": "Healthcare (Basel, Switzerland)",
    "keywords": [
        "duchenne muscular dystrophy",
        "dystrophin gene",
        "nonsense pathogenic variant",
        "transition"
    ],
    "methods": null,
    "publication_date": "2025-04-12",
    "pubmed_id": "40218127\n29395989\n32846887\n29395990\n19945914\n40004149\n39892019\n37371191\n29398641\n36058951\n30275255\n25604253\n34791888\n25042182\n32813700\n33037470\n30069101\n33773883\n33131659\n24976354\n8312295\n11717554\n28003112\n25190331\n14519573\n21708806\n21245364\n26097149\n29042427\n30275246\n26284620\n36213153\n31836945\n32724863\n8866748\n39900900\n27712620\n18650207\n17720499",
    "results": "Care followed international standards, but the disease progressed predictably, with gradual loss of ambulation, respiratory decline, and cardiac complications. The TRAQ revealed strengths in communication with healthcare providers but moderate confidence in self-management tasks. From the patient's perspective, fragmented adult services and difficulty accessing specialized neuromuscular support remain major obstacles, underscoring the importance of early, structured transition planning and patient-centered approaches.",
    "title": "Lost in Transition: Challenges in the Journey from Pediatric to Adult Care for a Romanian ",
    "xml": "<Element 'PubmedArticle' at 0x788503c9e430>"
}