Apparently rare cases are worth studying because…., 2023, Debra E. Weese-Mayer

This special issue of Clinical Autonomic Research focuses on five rare to ultra-rare respiratory and autonomic disorders of infancy, childhood, and adulthood (RADICA), including Congenital Central Hypoventilation Syndrome (CCHS) [2], Familial Dysautonomia (FD) [3], Prader Willi Syndrome (PWS) [4], Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) [5], and Rett Syndrome (RS) [6], and introduces a comprehensive data dictionary [7] with focus on autonomic signs and symptoms.

https://link.springer.com/article/10.1007/s10286-023-00956-8

 

Comprising —

• Neurocognition as a biomarker in the rare autonomic disorders of CCHS and ROHHAD
• A narrative review of the mechanisms and consequences of intermittent hypoxia and the role of advanced analytic techniques in pediatric autonomic disorders
• Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation ROHHAD: a collaborative review of the current understanding
• Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome
• Autonomic nervous system dysfunction in Prader–Willi syndrome
• Familial dysautonomia

and

• Creating a data dictionary for pediatric autonomic disorders (ETA: thread)