RxPG News Feed for RxPG News

Medical Research Health Special Topics World
 Asian Health
 Food & Nutrition
 Men's Health
 Mental Health
 Occupational Health
 Public Health
 Sleep Hygiene
 Women's Health
 Canada Healthcare
 China Healthcare
 India Healthcare
 New Zealand
 South Africa
 World Healthcare
   Latest Research
 Alternative Medicine
 Clinical Trials
 Infectious Diseases
  Brain Diseases
  Demyelinating Diseases
  Neurodegenerative Diseases
   Rett Syndrome
  Spinal Cord Diseases
  Trigeminal Neuralgia
 Sports Medicine
   Medical News
 Awards & Prizes
   Special Topics
 Odd Medical News

Last Updated: Oct 11, 2012 - 10:22:56 PM
Research Article
Rett Syndrome Channel

subscribe to Rett Syndrome newsletter
Latest Research : Neurosciences : Neurodegenerative Diseases : Rett Syndrome

   EMAIL   |   PRINT
Differences in swallowing mechanism of Rett syndrome patients

Aug 4, 2008 - 12:49:20 PM , Reviewed by: Dr. Sanjukta Acharya
"The significance of this is for other groups of patients with neurological impairment," Fortunato said. "Do all of these patients have the same mechanism for reflux and swallowing disorders? If not, performing a fundoplication (anti-reflux surgery) may not help. In fact, it may make things worse like it did in the Rett girls."

[RxPG] Researchers at Wake Forest University Baptist Medical Center have found that the reflux and swallowing problems that are common symptoms in patients with Rett syndrome and other neurological impairments, may be caused by a different mechanism than they are in healthy individuals. The finding leaves researchers to wonder if these patients truly benefit from anti-reflux surgery commonly performed in these children.

In a study published in this quarter's issue of the Journal of Applied Research, John E. Fortunato, M.D., lead researcher and an assistant professor in the Department of Pediatrics, found that the esophagus of children with Rett syndrome demonstrates different movements than it does in patients without the neurological disorder, which may explain why so many Rett patients experience persistent reflux and swallowing issues even after undergoing surgery meant to correct those problems.

"The significance of this is for other groups of patients with neurological impairment," Fortunato said. "Do all of these patients have the same mechanism for reflux and swallowing disorders? If not, performing a fundoplication (anti-reflux surgery) may not help. In fact, it may make things worse like it did in the Rett girls."

Previous studies have shown that children with neurological impairments have increased complications after anti-reflux surgery. In this study, Fortunato found the same to be true of Rett syndrome patients who underwent fundoplication. The finding leads researchers to believe that there may be something different causing the reflux and swallowing problems in Rett syndrome patients and possibly other patients with neurological impairments, such as cerebral palsy, brain injury and autism, than the accepted mechanism for the same problems in otherwise healthy adults and children.

Rett syndrome is a childhood neurodevelopmental disorder caused by mutations in the gene MECP2 located on the X chromosome. It is the only Autism spectrum disorder with a known genetic cause and is characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, walking abnormalities, seizures, and mental retardation. Early symptoms may also include toe walking, sleep problems, teeth grinding, difficulty chewing and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.

Rett syndrome affects one in every 10,000 to 20,000 live female births and is associated most closely with gastroesophageal reflux disease (GERD) and difficulty and /or pain swallowing (dysphagia). Most patients affected by the mutation have trouble eating, so they often are shorter and weigh less than other children their age. To maintain proper nutrition, some children need to be fed through tubes placed in their noses or stomachs. Boys who inherit the mutated gene usually don't survive infancy, according to the National Institute of Neurological Disorders and Stroke.

The study included 32 Rett patients between the ages of 2 and 14 with prior history of feeding problems. Researchers looked at the movement (or peristalsis) of the esophagus in the girls and found unusual esophageal movement disorders.

As a result of the study's findings, Wake Forest Baptist has approved further research to look at esophageal movement and swallowing function before and after reflux surgery, comparing children with and without neurological impairment.

"This issue is of particular interest to pediatricians who refer these patients for their 'reflux' problems," Fortunato said. "If we develop a better understanding of the mechanisms behind the problems being experienced by these children, we just might be able to find a way to make life a little more comfortable for them."

Publication: Journal of Applied Research

Advertise in this space for $10 per month. Contact us today.

Related Rett Syndrome News
Differences in swallowing mechanism of Rett syndrome patients
MeCP2 - Rett Syndrome protein binds only to specific genes
Spontaneous neuronal activity is reduced in cortex in Rett Syndrome

Subscribe to Rett Syndrome Newsletter

Enter your email address:

 About Dr. Sanjukta Acharya
This news story has been reviewed by Dr. Sanjukta Acharya before its publication on RxPG News website. Dr. Sanjukta Acharya, MBBS MRCP is the chief editor for RxPG News website. She oversees all the medical news submissions and manages the medicine section of the website. She has a special interest in diabetes and endocrinology. She can be reached for corrections and feedback at [email protected]
RxPG News is committed to promotion and implementation of Evidence Based Medical Journalism in all channels of mass media including internet.
 Additional information about the news article
Fortunato began the study with colleagues while employed at Johns Hopkins University School of Medicine. He joined Brenner Children's Hospital in 2006, where he finished the research, which was funded through a National Institutes of Health grant awarded to Johns Hopkins.

Co-researchers were Kenneth Koch, M.D., also of Wake Forest; Sakkubai Naidu, M.D., and Carmen Cuffari, M.D., of Johns Hopkins School of Medicine; and Anil Darbari, M.D., John Desbiens, Hong Brereton, M.S., R.D., and Genila Bibat, M.D., all of the Kennedy-Krieger Institute

Wake Forest University Baptist Medical Center is an academic health system comprised of North Carolina Baptist Hospital, Brenner Children's Hospital, Wake Forest University Physicians, and Wake Forest University Health Sciences, which operates the university's School of Medicine and Piedmont Triad Research Park. The system comprises 1,154 acute care, rehabilitation and long-term care beds and has been ranked as one of "America's Best Hospitals" by U.S. News & World Report since 1993. Wake Forest Baptist is ranked 32nd in the nation by America's Top Doctors for the number of its doctors considered best by their peers. The institution ranks in the top third in funding by the National Institutes of Health and fourth in the Southeast in revenues from its licensed intellectual property.

For any corrections of factual information, to contact the editors or to send any medical news or health news press releases, use feedback form

Top of Page

Contact us

RxPG Online



    Full Text RSS

© All rights reserved by RxPG Medical Solutions Private Limited (India)