Autonomic Medicine Publications

Debra E Weese-Mayer, MD, has collaborated extensively nationally and internationally in leading seminal research in congenital central hypoventilation syndrome (CCHS) and rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD)​​.

Dr. Weese-Mayer's research was recently featured in her role as Special Editor of the Rare Pediatric Autonomic Disorders special issue of Clinical Autonomic Research (the journal of the American Autonomic Society). 

View articles from the issue below: 

• Creating a data dictionary for pediatric autonomic disorder

• Autonomic nervous system dysfunction in Prader–Willi syndrome

• Rapid‑onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): a collaborative review of the current understanding

• A narrative review of the mechanisms and consequences of intermittent hypoxia and the role of advanced analytic techniques in pediatric autonomic disorders

• The future of rare autonomic disease research

• Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome

• The need for consistent clinical definitions in autonomic medicine

• Apparently rare cases are worth studying because….

• Neurocognition as a biomarker in the rare autonomic disorders of CCHS and ROHHAD
  
  

Additional Publications 

• Analysis and comparisons of gene expression changes in patient-derived neurons from ROHHAD, CCHS  and PWS
• Cerebral Autoregulation during Orthostatic Challenge in Congenital Central Hypoventilation Syndrome
• Neurocognitive monitoring in congenital central hypoventilation syndrome with the NIH Toolbox 
• Novel methods of imaging and analysis for the thermoregulatory sweat test
• Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)
• Pupillometry measures of autonomic nervous system regulation with advancing age in a healthy pediatric cohort

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