ArticleFrontiers in pediatrics2026
ROHHAD syndrome: an interdisciplinary perspective.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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9 authors.
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Abstract
Objective: To characterize the multisystem presentation and care requirements of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome from an interdisciplinary perspective. Study design: A retrospective analysis of clinically confirmed ROHHAD cases managed within a specialized pediatric palliative care service over a 13-year period (2012-2025). Collected data included demographic and socio-familial characteristics, clinical manifestations, care needs, management strategies, disease trajectories, and outcomes. Descriptive statistics and exploratory Spearman's rank correlation were applied. Results: Six patients (three females and three males) were identified, with a median age at onset of 3.3 years and a median diagnostic delay of 1.6 years. Central hypoventilation represented a key driver of clinical complexity, with most children rapidly progressing to tracheostomy and long-term invasive ventilation. Endocrine involvement was multisystemic and frequently associated with electrolyte and metabolic instability. Autonomic dysregulation was recurrent but clinically heterogeneous. Neurodevelopmental concerns were common, and many children later developed severe behavioral dysregulation and additional neuropsychiatric symptoms that significantly affected treatment adherence and overall management. No neuroendocrine tumors were identified on the available imaging studies. At the time of data collection, four children had died, predominantly due to cardiorespiratory arrest. Conclusions: The clinical complexity of ROHHAD requires coordinated, interdisciplinary care. However, real-world data comprehensively defining patient needs and clarifying the contribution of different specialties remain limited. Our findings provide novel insights and highlight how the evolving course challenges traditional discipline-centered approaches, instead demanding ongoing, integrated collaboration to ensure adaptable, individualized care pathways.
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