Debra E. Weese-Mayer, MD

Chief, Center for Autonomic Medicine in Pediatrics

Professor of Pediatrics (Neurology), Northwestern University Feinberg School of Medicine; Beatrice Cummings Mayer Professor in Pediatric Autonomic Medicine

Appointments & Referrals

1.800.543.7362 (1.800.KIDS DOC)

About Me

Clinical Interests: Research in genetic disorders of the autonomic nervous system and respiratory control; congenital central hypoventilation syndrome (CCHS); rapid onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD); sudden infant death syndrome (SIDS); Rett syndrome; development of tools to objectivity evaluate the autonomic nervous system

Specialties, Programs & Conditions

Programs & Conditions:

Autonomic Medicine

Education & Training

Education: University of Chicago, Pritzker School of Medicine, 1978

Postgraduate Training: Fellowship in neonatal-perinatal medicine and control of breathing, Lurie Children's (Formerly Children's Memorial Hospital), 1982-1986; Residency in pediatrics, Lurie Children's (Formerly Children's Memorial Hospital), 1978-1981

Board Certifications: Neonatal-Perinatal Medicine, General Pediatrics

Professional Organizations: American Autonomic Society Statement on Autonomic Medicine in Pediatrics; American Thoracic Society; CJ Foundation for SIDS Scientific Advisory Board; RADICA-FRE Scientific Advisory Board; Society for Pediatric Research

Research

Research Interests: Autonomic medicine; circadian rhythms; developmental neurobiology; developmental genetics; endocrine genetics; pacemakers; respiratory diseases; sudden cardiac death

Publications

Most recent publications

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD Respir Physiol Neurobiol22159-63
Analysis of PAC1 receptor gene variants in Caucasian and African-American infants dying of sudden infant death syndrome Acta Paediatr
Commentary: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): Remember Your ABCs (Airway, Breathing, Circulation) J Can Acad Child Adolesc Psychiatry22 (3): 238-9
Respiratory and cardiovascular indicators of autonomic nervous system dysregulation in familial dysautonomia Pediatr Pulmonol47 (7): 682-91
Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation J Appl Physiol (1985)108 (4): 979-88
Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine Pediatr Pulmonol44 (6): 521-35
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene Acta Paediatr98 (1): 192-5
ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison Orphanet J Rare Dis13 (1): 124
Congenital Central Hypoventilation Syndrome (CCHS): A Bedside-to-Bench Success Story for Advancing Early Diagnosis and Treatment and Improved Survival and Quality of Life Pediatr Res
Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS) Am J Med Genet A158A (9): 2297-301

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