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.