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For members of the Texas Children's Hospital medical staff
Blue Bird Circle Rett Center is unique resource for girls
with RTT and their families
The Blue Bird Circle Rett Center is one of three centers in the United States that specialize in the diagnosis and care of girls and women with Rett syndrome. We currently have evaluated more than 500 girls and women with Rett syndrome (RTT). We offer a multidisciplinary approach and a comprehensive evaluation of the girls. In addition to the diagnosis and overall evaluation, consultants are available to evaluate problems such as scoliosis, chewing/swallowing dysfunction, failure to thrive, gastroesophageal reflux and motor dysfunctions, and to provide genetic consultation. Parents must accompany their child for these evaluations and studies.
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The Blue Bird Circle Rett Center and Rett Clinic
Baylor College of Medicine
In association with Texas Children's Hospital
Phone: 832-822-7388
Toll-Free: 1-888-430-7388
Fax: 832-825-7388
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What is Rett syndrome?
Rett syndrome is a genetic, neurodevelopmental disorder, seen primarily in females. It rarely occurs in males. Early developmental milestones appear normal, but between 6-18 months of age, there is a delay or regression in development, particularly affecting speech, hand skills and coordination. An early marker is deceleration of head growth, which typically becomes evident between 2 and 6 months old. Girls showing these features should be considered for evaluation of mutations in the MECP2 gene. Thereafter, most girls lose the ability to use spoken language as a form of communication and have very limited purposeful hand skills. A hallmark of Rett syndrome is repetitive hand movements that may become almost constant while awake. Other features may include seizures, irregular breathing patterns including breath holding, somatic growth failure, and scoliosis. Individuals with Rett syndrome are expected to have a long life expectancy. Women with Rett syndrome remain dependent on others to provide their basic needs. Girls and women with Rett syndrome can learn alternative means of communication, show distinct preferences, and are very socially interactive.
Can RTT happen again?
The majority of cases of RTT are sporadic. RTT typically occurs in one daughter in families; however, there are several families where there is more than one girl with RTT. In almost all these instances that were studied, if a specific MECP2 mutation was identified in the first girl, the second girl will have the same mutation. This means that for many parents of a girl with RTT who are contemplating having another child, prenatal diagnosis in a future pregnancy can be offered as an option. The Rett Center, in close cooperation with the prenatal diagnostic center at Baylor College of Medicine, can guide parents on these issues.
What causes RTT?
The cause of RTT remained elusive until the research team of Dr. Huda Zoghbi, an investigator associated with the Rett Center, discovered that mutations in the MECP2 gene on the X-chromosome cause RTT. This discovery has opened new research avenues for the understanding of RTT and led to development of new diagnostic tests. It also provides a target to search for possible treatments for RTT.
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There are few if any other centers that have the breadth of experience necessary to provide this type of comprehensive evaluation for girls with Rett syndrome. We believe our center provides a unique resource and will benefit girls with RTT and their families.
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How is RTT diagnosed?
The diagnosis of RTT is a clinical diagnosis based on well-established criteria. It has become possible to test the DNA obtained from a blood sample of a girl with possible RTT for mutations in the MECP2 gene. Such mutations are found in as many as 95 percent of girls meeting all of the clinical criteria for RTT. This does not mean that the other
5 percent do not have RTT; we simply cannot confirm the diagnosis on a blood sample in all these girls. Further research will hopefully help us understand why this is the case. The MECP2 testing is now routinely performed in the DNA diagnostic laboratory at Baylor College of Medicine. To contact the DNA lab for MECP2 testing, call 713-798-6555, or toll-free at 1-800-441-4363 (GENE).
Is there a cure for RTT?
There is currently no cure for RTT. However, there are many treatments that can be offered to girls that will improve their quality of life and that of their families. The girls should be managed through therapeutic programs that include physical therapy, occupational therapy, speech therapy with use of alternative means of communication, music therapy, hydrotherapy and hippotherapy (horse back riding). Epilepsy can be managed with anti-epileptic drugs. Growth can be enhanced by nutritional interventions. Surgical intervention for correction of scoliosis may be necessary.
Does RTT happen in boys?
Most classic RTT occurs only in girls, but very rarely boys are affected. Moreover, new research results on the mutations in the MECP2 gene occur in a small percentage of boys and girls with other conditions. Those include non-specific mental retardation with seizures, autism, and severe neonatal encephalopathy. Further research is still in progress to better understand the contribution of MECP2 to these conditions and how they relate to classic RTT.
The Rett Clinic
A visit to The Rett Clinic generally includes a comprehensive, multidisciplinary evaluation. Recommendations may be made for the patient to be evaluated by two or more of the team specialists described below. Evaluations for girls and women with Rett syndrome are conducted in The Blue Bird Circle Clinic for Pediatric Neurology at Texas Children's Hospital Clinical Care Center and in the offices of associated Center team members.
Daniel G. Glaze, M.D., medical director, The Blue Bird Circle Rett Center, and chief of the Rett Clinic at Texas Children's Hospital (pediatric neurologist): His 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 and for many girls the true character of the episodes can only be determined by prolonged Video-EEG. This will allow appropriate decisions regarding the need for anti-seizure therapy. Dr. Glaze will review the genetic aspect of Rett syndrome. Genetic counseling through the Baylor Genetics Department is available to the parents. Dr. Glaze will also summarize the various evaluations performed during this visit in order to develop a comprehensive program for the patients.
In our experience, these girls do best when they receive an aggressive, ongoing therapy program (including a summer program) consisting of physical, occupational, and communication therapy. We recommend that girls with Rett syndrome receive a minimum of 30 minutes, three times a week, of physical, occupational, and communication therapy. We recommend that girls with Rett syndrome receive a program of communication therapy that emphasizes non-verbal communication, including eye gaze, picture boards, switches, computers, etc.
The goals of therapy are to promote ambulation, balance and purposeful hand use, improve oromotor function, and develop augmentative communication via eye gaze response or reaching to touch pictures/objects, switches, use of computers, etc. We have found hand or elbow splints useful in decreasing the girls' repetitive hand movements and promoting purposeful hand use. In addition, music therapy, hippotherapy and hydrotherapy are beneficial adjunctive therapies. Music therapy has shown to be beneficial as a motivator to promote purposeful hand use and communication via eye gaze. Both hippotherapy (“horseback riding therapy”) and hydrotherapy (“swimming therapy”) are beneficial in promoting movement and balance, and improving strength, as well as providing enjoyment for the girls.
Judy O. Barrish, B.S.N., R.N., patient care manager and project coordinator: Usually the first point of contact with the Rett Center, Barrish is involved in the initial enrollment of the patients seen at the clinic who might be diagnosed with Rett syndrome, and she also assists Dr. Glaze with their follow-up care. She is the first resource for parents who require immediate information or advice regarding their children's medical care and special therapy needs. In collaboration with Dr. Motil, her research activities include assessment of growth and nutrition in Rett syndrome (832-822-1781).
Kathleen J. Motil, M.D., Ph.D. (Pediatric Gastroenterology and Nutrition Service): Issues concerning growth, nutritional status, swallowing difficulties, gastroesophageal reflux, gastroparesis, gallstones, constipation and osteopenia will be evaluated and addressed. Nearly 100 percent of girls with Rett syndrome have some degree of chewing and swallowing difficulties and constipation. Gastroesophageal reflux occurs frequently in girls with Rett syndrome and may be difficult to evaluate since these girls have no spoken language and are functionally impaired. Bone demineralization is a common problem and may be seen in very young girls with Rett syndrome. Many girls with Rett syndrome experience some degree of growth failure and under-nutrition. Dr. Motil will outline a comprehensive program for these nutrition/GI problems commonly seen in girls with Rett syndrome. Diagnostic studies, including gastrointestinal radiographs, nuclide studies, swallowing function studies and ultrasound exams, will be reviewed by Dr. Motil as part of her evaluation.
Darrell Hanson, M.D., 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. For an appointment with Dr. Hanson, please call 713-986-5750.
Aloysia L. Schwabe, M.D., (Physical Medicine and Rehabilitation): 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 spasticity and rigidity. 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, each girl 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. To contact Dr. Schwabe for an appointment, call 832-826-6105.
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.
Multidisciplinary team
The goals of this multidisciplinary approach to Rett syndrome are to promote quality of life and acquisition of new skills, to make appropriate recommendations for medical treatment and therapeutic programs, and to 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. There are few if any other centers that have the breadth of experience necessary to provide this type of comprehensive evaluation for girls with Rett syndrome. We believe our center provides a unique resource and will benefit girls with RTT and their families.
All members of the Rett Center team are dedicated to provide highly specialized care for girls with RTT and to respond to parental questions and needs for their daughters. The Rett Center cares for girls and women living in the Houston area, and for those from all parts of Texas, the U.S.A. and around the world.
A special thanks is extended to The Blue Bird Circle for continuous support of all our efforts to care for the children and families of girls and women with Rett Syndrome.
CONTACT INFORMATION
The Blue Bird Circle Rett Center
Baylor College of Medicine
6621 Fannin Street, CC1250.44
Houston, TX 77030
Administrative Office
| Phone: |
832-822-7388 (RETT) |
| Toll-free: |
1-888-430-7388 |
| Fax: |
832-825-7388 |
| E-mail: |
rett@bcm.edu |
Nurse's Office
Call nurse's office for all new patient referrals and appointments.
Rett Center Web Site
http://bluebirdrett.bcm.tmc.edu
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