Dysautonomia
Foundation Research --
Current Projects
Debra
Weese-Mayer
Cardiorespiratory Dysregulation in Familial Dysautonomia
Familial Dysautonomia is associated with irregularities in breathing and sleep structure, such as breath-holding, hypoxia (low oxygen), shortened period of active sleep, and increased time to get to active sleep. We are anticipating that the normal inter-relationship of breathing, heart rate, and oxygenation will be altered in Familial Dysautonomia. This altered inter-relationship may be a factor in the cause of sudden death among children with Familial Dysautonomia.
Dr. Weese-Mayer will need volunteers to participate in this study. All participation will be home-based; there will be no traveling involved. Each participating family will be instructed on how to use the home monitor on the child for two hours/day for two consecutive days and for one full night of sleep (between the two awake recording days) for a total of 12-16 hours. If you wish to volunteer, please contact Foster Lewin, Dr. Weese-Mayer's Research Assistant, at 312-942-2723 / fdresearch@gmail.com.
The monitor
will record breathing using a vest (with elastic bands around the chest and
abdomen sewn into the vest) and heart rate using three sticky patches
(electrodes) placed on the chest. Your child’s blood oxygen level will be
measured with a sensor (oximeter) that shines a light through the skin (no
needles) and this will be taped on a finger or toe. All of these attachments are
standard medical equipment. The
monitor will be sent to your home and does not require any clinic visits.
Instructions for using the monitor will be shipped to your home along
with the monitor. A research
coordinator will be available through e-mail or phone for any questions related
to the monitor. There will be no
costs related to participation in this study. The results of our proposed study
will provide a more clear description of the phenotype of the control of
breathing deficit in Familial Dysautonomia as it pertains to the autonomic
nervous system (ANS). If our
hypothesis is correct, Familial Dysautonomia will provide a logical segue to a
growing number of diseases that reflect generalized ANS dysfunction (Sudden
Infant Death Syndrome, Idiopathic Congenital Central Hypoventilation Syndrome,
Rett Syndrome). Taken together, the
results generated by our proposed study will facilitate/expedite study into the
control of the ANS and potential intervention strategies for children with
Familial Dysautonomia, with the long term goal to decrease the incidence of
sudden death.
Debra Weese-Mayer
Debra
E. Weese-Mayer, M.D. is a 1978 graduate of the University of Chicago Pritzker
School of Medicine. She completed a
Pediatric Internship and Residency, then a Research and Clinical Fellowship in
Neonatal/Perinatal Medicine, all at Children’s Memorial Hospital in Chicago
(Northwestern University). She was
subsequently faculty at Northwestern University where she was Associate Director
of the Sleep Laboratory and a member of the Neonatology Faculty.
In 1989 she moved her team to Rush University to build the section of
Pediatric Respiratory Medicine. This
program includes a state-of-the-art Respiratory Physiology Laboratory, a
Pulmonology Program with an Exercise and Pulmonary Function Testing Laboratory,
and a Research Program devoted to the study of disorders of Autonomic Nervous
System (ANS) dysregulation. The
Respiratory Physiology Laboratory now includes a referral base from 45 of the
United States and 28 foreign countries. The
disorders studied in the Research Program include Sudden Infant Death Syndrome,
Congenital Central Hypoventilation Syndrome, Rett Syndrome, and most recently
Familial Dysautonomia. Dr.
Weese-Mayer has devoted her entire career to the study of disorders of
respiratory control, and most recently expanded to include the study of ANS
dysregulation. She is recognized
internationally for her leadership in and the study of children with Congenital
Central Hypoventilation Syndrome (CCHS) and its genetic basis.
She is similarly recognized for the study of the genetic and physiologic
basis of Sudden Infant Death Syndrome (SIDS).
Dr.
Weese-Mayer hypothesizes that there is a spectrum of disease with the shared
feature of ANS dysregulation, with SIDS, CCHS, Rett Syndrome and Familial
Dysautonomia all represented in that spectrum.
The primary objective of the current Familial Dysautonomia (FD) grant is
to elucidate the basis for the sudden death among children with FD by
determining the relationship between breathing, heart rate, and oxygenation
during sleep and wakefulness in children with FD.
She hypothesizes that children with FD will have uncoupling between
breathing and measures of heart rate control, oxygenation, and pulse waveform
amplitude, indicating malregulation of the ANS, and that these findings will be
apparent during sleep as well as wakefulness.
The results of her proposed study will provide a more clear description
of the phenotype of the cardiorespiratory deficit in Familial Dysautonomia as it
pertains to the ANS. If her
hypothesis is correct, Familial Dysautonomia will provide a logical segue to the
growing number of diseases that reflect generalized ANS dysfunction (SIDS, CCHS,
Rett Syndrome). Taken together, the
results generated by the current research will facilitate/expedite study into
the control of the ANS and potential intervention strategies for children with
Familial Dysautonomia, with the long term goal to decrease the incidence of
sudden death.