ROHHAD syndrome: an interdisciplinary perspective
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…
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