|
NEUROLOGY
The Blue Bird Circle Rett Center is one of the only centers in the United States that offers the breadth of experience necessary to evaluate and treat patients with Rett syndrome. Working with a multidisciplinary team of experts, our goals with each patients are to:
Promote quality of life and acquisition of new skills;
Make appropriate recommendations for medical treatment and therapeutic programs; and
Anticipate potentially treatable problems commonly experienced by girls with Rett syndrome.
Recommendations will be made for a comprehensive educational program that will promote ambulation, purposeful use of hands, motor skills and communication skills.
Learn more about our team of experts and what their evaluations will entail:
 Daniel G. Glaze, M.D., is the medical director of The Blue Bird Circle Rett Center and chief of the Rett Center. As a pediatric neurologist, Dr. Glaze's evaluation will include a history, complete general and neurological examination and evaluation for possible seizures. Video-EEG monitoring may be done. This is important in order to determine appropriate management of seizures. As many as 80 percent of girls with Rett syndrome experience seizures including generalized, as well as partial seizures. However, many girls experience behaviors that are non-epileptic, which means the true character of their episodes can only be determined by prolonged Video-EEG. This will allow appropriate decisions regarding the need for ant seizure therapy. Dr. Glaze will review the genetic aspect of Rett syndrome. Genetic counseling through the Baylor Genetics Department is available to parents. Dr. Glaze will also summarize the various evaluations performed during this visit in order to develop a comprehensive, individualized program for each patient.
Kathleen J. Motil, M.D., Ph.D., is a pediatric gastroenterologist who treats issues concerning growth, swallowing difficulties, gastroesophageal reflux, constipation and osteopenia. Nearly all girls with Rett syndrome have some degree of chewing and swallowing difficulties and constipation. Gastroesophageal reflux occurs frequently in girls with Rett syndrome and maybe difficult to evaluate since these patients have no spoken language and functionally are severely impaired. Bone demineralization is a common problem and is even seen in very young girls with Rett syndrome. The majority of girls with Rett syndrome experience some degree of growth failure. Dr. Motil will outline a comprehensive program for these nutrition/GI problems commonly seen in girls with Rett syndrome. A swallowing evaluation will be completed and will be reviewed by Dr. Motil as part of her assessment.
Darrell S. Hanson, M.D., is an orthopedic surgeon specializing in management of scoliosis in children. Evaluation for scoliosis including physical examination as well as X-rays will be completed. Scoliosis is a common problem in girls with Rett syndrome. Many may show rapid progression necessitating surgical intervention.
Aloysia L. Schwabe, M.D., is a physician with Physical Medicine and Rehabilitation and conducts evaluations related to these areas. All girls with Rett syndrome show some degree of motor impairment. Many girls show worsening of motor problems as they age. An ongoing program of physical therapy is required to anticipate these problems. Occupational therapy is indicated because of the oromotor problems and to promote hand use. Many girls will need orthotics because of problems with increased tone. Additionally, many girls with Rett syndrome have some degree of dystonia especially involving the lower extremities. This may necessitate the use of botulinin toxin, casting, and/or surgery. Evaluation and ongoing therapy is necessary to prevent the development of permanent deformities and contractures and to promote optimal physical function. Girls with Rett syndrome are expected to become women with Rett syndrome. Long life expectancy is expected and therefore, maximizing quality of life is strongly indicated. Currently, we are following a number of women in their 30s, 40s, and even 50s. In addition, girls will be evaluated for other therapies including water (hydro or aqua) therapy, and horseback riding therapy. Both of these are very helpful in promoting ambulation and coordination.
Cardiology Evaluation: An EKG will to need be done, either locally or at Texas Children’s Hospital. The incidence of long QT interval and sudden unexpected death are increased in girls with Rett syndrome. Recommendations for management of long QT interval, if present, will be made by the cardiology service.
  
|
