|Print This Page Email to a Friend|
BIRMINGHAM – The University of Alabama at Birmingham (UAB) Civitan Rett Syndrome Clinic has received the Center of Excellence award from Rettsyndrome.org, a leading advocacy organization for patients and families affected by Rett syndrome.
The award was presented at a reception today at the Children’s of Alabama.
Rett syndrome is a neurological disorder seen almost exclusively in females, affecting one in every 10,000-23,000 individuals. It is found in all racial and ethnic groups worldwide.
The Center of Excellence Award was given to Alan Percy, M.D., for his leadership of actively pursuing studies in Rett. Dr. Percy, who treats patients at Children’s of Alabama and is the director of the Rett Syndrome Clinic at UAB, was one of the first physicians to recognize Rett syndrome (RTT) in the United States. Percy is an internationally renowned researcher of Rett syndrome and has more than 30 years of experience in pediatric neurodevelopmental disorders. He established centers at UAB/Children’s and the Baylor College of Medicine in Texas.
In 1999, a decade-long search for the genetic basis for Rett syndrome succeeded in identifying mutations in the MECP2 gene in girls fulfilling the criteria for the syndrome. This discovery allowed confirmation of clinical diagnoses and the development of genotype-phenotype correlations. Research at UAB/Children’s is now examining the molecular genetics of children who do not meet all diagnostic criteria for RS, but who are near the border zones of clinical involvement.
Patients with Rett syndrome tend to have small hands and feet and a deceleration of the rate of head growth. Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are common. Gastrointestinal disorders and seizures are also frequently seen. Patients typically have no verbal skills, and about 50 percent of affected individuals do not walk.
Survival into adulthood is now expected barring other illnesses or serious physical complications. Girls and women with Rett syndrome can be expected to demonstrate a full range of emotions and enjoy satisfying social, recreational and educational experiences at home and in the community.
Rettsyndrome.org is a national organization working to accelerate research to cure Rett syndrome and empower families with information, knowledge and connectivity. Since 1998, Rettsyndrome.org has invested more than $41 million in Rett syndrome research.
Since 1911, Children’s of Alabama has provided specialized medical care for ill and injured children, offering inpatient and outpatient services throughout central Alabama. Ranked among the best pediatric medical centers in the nation by U.S. News & World Report, Children’s provided care for youngsters from every county in Alabama, 46 other states and seven foreign countries last year, representing more than 676,000 outpatient visits and more than 15,000 inpatient admissions. With more than 2 million square feet, Children’s is the third largest pediatric medical facility in the U.S. More information is available at childrensal.org.