Medical Information
Table of Contents
Common Medical Procedures
Bone Density Scan
Individuals with RTT are at risk for osteoporosis. A bone density or bone mineral density test is used to diagnose osteoporosis. During the test an x-ray machine takes pictures and measures the mineral content or density of bones. Medications exist to ameliorate osteoporosis.
EEG
An electroencephalogram (EEG) detects abnormalities in the electrical activity of the brain. Brain cells communicate by producing tiny electrical impulses. In an EEG, electrodes are placed on the scalp over multiple areas of the brain to detect and record patterns of electrical activity and check for abnormalities. The technician applies between 16 and 25 flat metal discs (electrodes) in different positions on the scalp. The discs are held in place with a sticky paste. The electrodes are connected by wires to an amplifier and a recording machine. The recording machine converts the electrical signals into a series of wavy lines that are drawn onto a moving piece of graph paper. Since individuals with RTT are at risk for seizures, an EEG is often ordered.
EKG
An electrocardiogram is a measurement of the electrical activity of the heart. By placing electrodes at specific locations on the body (chest, arms, and legs), a graphic representation, or tracing, of the electrical activity can be obtained. Changes in an EKG from the normal tracing can indicate one or more of several heart-related conditions.
An EKG gives two major kinds of information. First, by measuring time intervals on the EKG, a doctor can determine how long the electrical wave takes to pass through the heart. Finding out how long a wave takes to travel from one part of the heart to the next shows if the electrical activity is normal or slow, fast or irregular. Second, by measuring the amount of electrical activity passing through the heart muscle, a cardiologist may be able to find out if parts of the heart are too large or are overworked.
Individuals with RTT are at risk for having Long Q-T syndrome (elongation of the resting pause between beats of the heart). Long Q-T syndrome can be identified by an EKG and then treated with medication.
Endoscopy
An endoscopy enables the physician to look inside the esophagus, stomach, and duodenum (first part of the small intestine). The procedure is used to discover the reason for swallowing difficulties, nausea, vomiting, reflux, bleeding, indigestion, abdominal pain, or chest pain. A thin, flexible, lighted tube called an endoscope is placed inside the throat and down into the stomach. The endoscope transmits an image of the inside of the esophagus, stomach, and duodenum, so the physician can carefully examine the lining of these organs. The scope also blows air into the stomach; this expands the folds of tissue and makes it easier for the physician to examine the stomach. The physician can see abnormalities, like inflammation or bleeding, through the endoscope that don't show up well on x rays. The physician can also insert instruments into the scope to treat bleeding abnormalities or remove samples of tissue (biopsy) for further tests. The procedure takes 20 to 30 minutes. Children with Rett are typically sedated for the procedure.
Gastric Emptying Test
A gastric emptying study is a procedure that is done by nuclear medicine physicians using radioactive chemicals that measures the speed with which food empties from the stomach and enters the small intestine. For a gastric emptying study, a patient eats a meal in which a solid component of the meal (for example, scrambled egg), a liquid component of the meal (for example, water), or both, are mixed with a small amount of radioactive material. A scanner (acting like a Geiger counter) is placed over the patient’s stomach to monitor the amount of radioactivity in the stomach for several hours after the test meal is eaten. As the radioactively labeled food empties from the stomach, the amount of radioactivity in the stomach decreases. The rate at which the radioactivity leaves the stomach reflects the rate at which food is emptying from the stomach.
MRI
MRI stands for Magnetic Resonance Imaging. An MRI forms images of the internal structures of the body. Typically MRI’s may be ordered during the diagnostic stage when it’s unclear what disorder the child may have.
Oral Motor Testing
Many children with Rett have difficulty biting, chewing and swallowing. A swallow study (videoflouroscopy) may be ordered which will allow a health care professional to see how a patient chews and swallows. Videoflouroscopy is a radiographic study in which the radiologist is assisted by a speech pathologistin who presents the patient with foods and liquids of varying consistencies mixed with barium. The barium acts as a contrast medium that allows for visualization and video recording of the anatomy and motor components involved in chewing and swallowing.
pH Probe
A pH probe study determines if acid from the stomach is coming up into the esophagus.
A thin, flexible tube is passed through the nose, down the back of the throat, and into the esophagus. The tube is carefully taped in place. The end of the tube is attached to a small recording machine. This recorder has a belt that is buckled around the patient’s waist.
A pH probe study takes 18 to 24 hours. The tube is left in place for this time while a diary is kept of the child's activity.
Upper Gastrointestinal Series
An upper gastrointestinal (UGI) series is a multi-step test a doctor uses to examine the upper portion of a person's gastrointestinal tract. This test is often done in Rett Syndrome patients to look for reflux. The patient swallows a chalky-tasting "milk shake" of barium and water (barium contrast material) followed by gas-producing crystals. The doctor then tracks the progress of the barium through the throat (esophagus), stomach, and the first part of the small intestine (duodenum) using a device called a fluoroscope that takes pictures. The fluoroscope is connected to a TV monitor. Several X-ray pictures are usually taken at different times and from different angles.
Doctors Familiar with Rett Syndrome
The doctors below were referred to RSRF by parents of children with Rett Syndrome who are pleased with the services they have received. RSRF does not endorse or claim to have personal knowledge of the abilities of these doctors. Parents are urged to use independent judgment when selecting a physician for their child.
This list will be updated on an ongoing basis. If you would like to add any names please contact Monica Coenraads, Director of Research for RSRF, at monica@rsrf.org or 203.445.9233.
Alabama
Neurologist
Alan Percy
University of Alabama at Birmingham
205.934.1055
Paul R. Maertens
Mobile
251.660.5108
Arizona
Geneticist
Robert P. Erickson
Tucson
520.324.3200
Neurologist
Dinesh Talwar
Pediatric Neurology Associates, Tucson
520.326.2661
John Gray
Pediatric Neurology Associates, Tucson
520.326.2661
Nutritionist
Jude Trautlein
520.324.3515
Orthopaedist
Brian Nielsen
Tucson Orthopaedic Institute
520.784.6200
Pediatrician
Mohammed Nomaan
Children’s Medical Center, Tucson
520.293.6686
Pulmonologist
Linda Riordan
520.885.0185
California
Dentist
Phillip Wolkstein
San Jose
408.578.6550
Geneticist
Billur Moghaddam
UC Davis Health System, Sacramento
916.703.0413
Uta Francke
Stanford University Medical Center
650.736.7642
Joyce Kabori
Santa Teresa Kaiser, San Jose
408.972.3300
Neurologist
Shailesh Asaikar
Sacramento
916.733.8150
Sarah Spence
Mattel Children's Hospital at UCLA
310.825.0867
Richard Haas
UCSD
858.534.2290
Doris Trauner
Children’s Specialists San Diego
858.966.5999
Dwarka Sankar
Santa Clara Kaiser
408.236.6492
Ophthalmologist
Mark Jacobson
Petaluma
707.762.3573
Creig Hoyt
UCSF
415.353.2289
Stephen Austin Lee
Poway
858.748.3384
Orthopaedist
Peter Newton
Pediatric Orthopaedic and Scoliosis Center, San Diego
858.966.6789
Pediatrician
Renee Wachtel
Children's Hospital and Research Center in Oakland (CA)
510.428.3351 Ext. 2673
Bruce Block
Capitola
831.476.1933
Psychotherapist
Lisa deFaria, LCSW
Aptos
831.684.2281
Pulmonology
Sung Min Park
Children's Hospital, San Diego
858.966.5846
Connecticut
Dentist
Lawrence Dinkes
Fairfield County
203.371.8282
Gastroenterologist
Mark Glassman
Fairfield County
203.853.7170
Neurologist
Francis DiMario
Connecticut Children's Medical Center, Hartford
860.545.9489
Edward Novotny
Yale School of Medicine
203.785.5730
Orthopaedist
Peter DeLuca
Connecticut Orthopaedic Specialists
203.407.3500
Pediatrician
Robert Chessin
Pediatric Healthcare Associates
203.452.8322
Karalyn Kinsella
Pediatric Associates, Cheshire
203.272.0396
Delaware
Geneticist
Carolyn Schanen
Alfred I duPont Hospital for Children
302.651.6702
District of Columbia
Neurologist
Stephen Mott
Georgetown University Hospital
202.444.8785
Florida
Geneticist
Lynda Pollack
Arnold Palmer Hospital
407.649.6910
Neurologist
Roberto Tuchman
Miami Children’s Hospital
954.385.6200
Israel Alfonso
Miami Children’s Hospital
305.666.6511
Ronald Davis
Pediatric Neurology PA
407.293.1122
Paul Carney
Shands Hospital
352.392.6442
Orthopaedist
Shriners Hospital for Children, Tampa (free services)
813.975.7107
Pediatrician
Ginny Guyton
Windermere Pediatrics
407.397.0080
Idaho
Gastroenterologist
Henry Thompson
208.381.7310
Neurologist
David Bettis
Boise
208.344-2525
Orthopaedist
Kevin Shea
Intermountain Orthopaedics
208.381.7310
Pediatrician
Tom Cornwall
Primary Health Pediatrics, Boise
208.377.4400
Angela Beauchaine
Primary Health Pediatrics, Boise
208.377.4400
Illinois
Neurologist
Peter Heydemann
Rush University Medical Center
312.942.4036
Indiana
Dentist
Mark Gardner
Batesville
812.934.6166
Massage Therapist
Mandy Collins
Osgood
812.852.2633
Pediatrician
Andy Poltrac
Children's Health Care, Batesville
812.933.6000
Pulmonologist
Barbara Stewart
Michigan City
219.879.6531
Kentucky
Neurologist
Vinay Puri
Louisville
502.589.8033
Pediatrician
Deborah Massey-Eyre
Prospect Pediatrics, Prospect
502.228.1312
Lori Scales
Norton Medical Associates Mt. Washington
502.955.6129
Pulmonologist
Nemr Eid
Louisville
502.629.8830
Surgeon
Mary Fallat
Louisville
502.538.7337
Maryland
Gastroenterologist
Carmen Cuffari
Kennedy Krieger Institute
410. 955.2427
Neurologist
Sakkubai Naidu
Kennedy Krieger Institute
1.800.873.3377
Marc DiFazio
Rockville
301.928.3244
Orthopaedist
Paul Sponseller
Kennedy Krieger Institute
443.923.2703
Orthodics
Ed Jurgrau
Potomac
301.299.9662
Massachusetts
Dentist
Kristine A Grazioso
Cohasset
781.383.0003
Gastroenterologist
Timothy Buie
Mass General Hospital for Children
781.449.6074
Barry Hirsch
Baystate Medical Center, Springfield
413.733.4940
Geneticist
Jonathan Picker
Children’s Hospital Boston
617.855.2029
Neurologist
Herbert Gilmore
Baystate Medical Center, Springfield
413.794.7040
David Urion
Children's Hospital Boston
617.355.2711
Elizabeth Thiele
Massachusetts General Hospital
617.726.6540
Pulmonologist
Paul Salva
Baystate Medical Center, Springfield
413.739.4144
Spine Surgeon
John B. Emans
Children’s Hospital Boston
617.355.7132
Michigan
Neurologist
Steven M. Leber
Women's Hospital, Ann Arbor
734.936.4179
Minnesota
Neurologist
Michael Frost
Gillette’s Children’s Hospital, St. Paul
651.220.5290
Lawrence Charnas
Fairview Medical Center, Minneapolis
612.626.3606
Orthopaedist
Stephen England
Gillette Children's Hospital, St. Paul
651.291.2848
Steven Koop
Gillette’s Children’s Hospital, St. Paul
651.229.3990
Missouri
Neurologist
Dennis Altman
St. Johns Hospital
314.251.5866
Garrett Burris
Child Neurology Associates, Chesterfield
314.275.7070
Thomas Geller
Cardinal Glennon Hospital, St. Louis
314.268.2700 ext. 5338
Edwin Trevathan
St. Louis Children's Hospital, St. Louis
314.454.4089
Orthopaedist
George S. Bassett
Mid County Orthopedics St. John's Hospital, St. Louis
314.645.4600
Pediatrician
Joseph Goldenberg
Chesterfield
314.576.1616
Pulmonologist
Blakeslee E. Noyes
Cardinal Glennon Hospital St. Louis
314.268.2700 ext. 4066
New Jersey
Neurologist
James Wark
Cooper University Hospital, Camden
856.342.2226
Chester Minarcik
Moorestown
856.722.0100
Mark Mintz
The Center for Neurological and Neurodevelopmental Health
Voorhees
856.346.0005
Orthopaedics
Joseph Dryer
Millburn
973.258.1010
Roy Nuzzo
Summit
908.522.5801
New York
Gastroenterologist
Philip Kazlow
Columbia
212.305.5903
Neurologist
Solomon Moshe
Albert Einstein College of Medicine, Bronx
718.430.2447
Alex Boro
Albert Einstein College of Medicine, Bronx
718.920.5370
Daniel Miles
NYU
212.263.8318
Orthopaedist
David Roye
Columbia
212.305.5475
Pediatrician
Maureen Cooney
Nyack
845.358.5437
Spine Surgeon
Joseph Dryer
NYU
212.263.1406
North Carolina
Neurologist
Ferreras Northeast Neurology
Concord
704.782.6030
Pediatrician
Suburban Pediatrics
Kannapolis
704.784.1811
Ohio
Gastroenterologist
Susan Moyer
Cincinnati’s Children Hospital Medical Center
513.636.4415
Neurologist
Ton J. deGrauw
Cincinnati’s Children Hospital Medical Center
513.636.4222
Khaled M. Zamel
Columbus Children’s Hospital
614.722.4634
Orthopaedist
Aaron Buerk
Toledo
419.291.2200
Pediatrician
Patricia Manning
Cincinnati’s Children Hospital Medical Center
513.636.5340
Francis Hickey
Cincinnati
513.232.1253
Physiatrist
Jilda N. Vargus-Adams
513.636.7480
Physical Medicine
Julie Miller
Toledo
419.291.2200
Oklahoma
Dentist
Eugene Litteken
Ardmore
580.226.6290
Neurologist
Stephen Hutchins
Marietta
580.276.2400
Oregon
Pediatrician
Sarojini Budden
Oregon Health and Sciences University
Portland
503.494.8086
Pennsylvania
Chiropractor
Arthur Berman
Pittsburgh
412.521.3632
Jamie Berringer
West View
412.931.2273
ENT
Phillip Pollice
Pittsburgh
412.366.3889
Gastroenterologist
Robert Baldasanno
CHOP
215.590.1680
Robert Cincala
Pittsburgh
412.367.4250
Carlo DiLorenzo
CHOP
412.692.8549
Neurologist
Robert Clancy
CHOP
215.590.1719
Amy Goldstein
CHOP
412.692.7296
Orthopaedist
Mark Sangimino
Pittsburgh
412.359.8035
Pediatrician
Martha Lusser
Allentown
610.432.4114
Leslie Soloshatz
Pittsburgh
412.366.7337
Pamela Clair
Pittsburgh
412.366.7337
Scott Faber
Pittsburgh
412.420.2400
William Coppula
Pittsburgh
412.366.7337
Pulmonologist
Samuel Goldfarb
CHOP
215.590.3749
Physiatrist
Mary Louise Russell
CHOP
412.692.5097
Rhode Island
Neurologist
David Mandelbaum
Hasbro Children’s Hospital, Providence
401.444.5507
John Gaitanis
Hasbro Children’s Hospital, Providence
401.444.5507
Orthopaedist
Craig Eberson
Hasbro Children’s Hospital, Providence
401.457.1550
Pediatricians
Jane Dennison
East Bay Pediatrics, Barrington
401.247.1644
Robert Griffith, Jr.
Pediatric Associates Inc, East Providence
401.438.6888
Pulmonologist
Michael Schechter
Hasbro Children’s Hospital, Providence
401.793.8560
Texas
Family Doctor
T.C Darter
Childress
940.937.3636
Gastroenterologist
Kathleen Motil
Baylor College of Medicine
713.798.7180
Neurologist
Daniel Glaze
Baylor College of Medicine
713.798.7388
Angus Wilfong
Houston
832.822.0948
Joshua Rotenberg
San Antonio
210.249.5020
Pediatrician
Danny H. Danziger
Piney Point Pediatric Associates, Houston
713.781.7907
Virginia
Cardiologist
Douglas Roy Allen
Richmond
804.628.7337
Dentist
Michael and Cris Ann Ternisky
Reston
703.481.9200
Arthur P. Mourino
Richmond
804.741.2226
Gastroenterologist
Lynn Duffy
Gastroenterology Associates of Northern VA, Ltd., Fairfax
703.698.8960
Family Doctor
Shelley C. Short
Sandy Hook
804.556.3172
Gastroenterologist
Ann Kessel
Richmond
804.662.7350
Geneticist
Joann N. Bodurtha
Richmond
804.828.9632
Neurologist
Lydia Kernitsky
Medical College of Virginia
804.828.0442
Phillip Pearl
Children's National Medical Center, Fairfax
571.226.8380
William Young
Inova Fairfax Hospital
703.970.2600
David J. Leszczyszyn
Richmond
804.828.0442
Orthopaedist
Chester H. Sharpes
Tuckahoe Orthopaedic Associates
Richmond
804.285.2300
Orthotics & Prosthetics
Paul L. Valentine
Richmond
804.355.0283
Cindy Fox
Orthotic Solutions
Fairfax
703.849.9200
Pediatrician
Chippenham Pediatrics, Richmond
Drs. Strehler, Sorrells, Ryan, Talahbi
804.320.1353
Physical and Medicine Rehabilitation Specialist
Eugenio A. Monasterio
Children's Hospital
804.321.7474
Physiatrist
Kathrin Swoboda
George Washington School of Medicine
Fairfax
571.226.8302
Washington
Neurologist
Stephen Glass
Woodinville
425.424.9200
John D. Morgan
Swedish Epilepsy Center, Seattle
206.386.3880
Russell Saneto
Children's Hospital and Regional Medical Center, Seattle
206.987.2380
Orthopaedist
Kit M. Song
Children's Hospital and Regional Medical Center, Seattle
206.987.2380
Pediatrician
Charles A. Cowan
Children's Hospital and Regional Medical Center, Seattle
206.987.2380
Wisconsin
Pediatrician
Tina Iyama
Waisman Center UW, Madison
608.263.2847
