This article shows that a girl with Rett syndrome can be safely belted into a hand trike and pulled, thereby keeping her legs in motion and building muscle tone:
Click here to see the Ambucs Amtryke Tricycle with Saddle Seat
Archive for category Treatment
Congratulations to the professionals at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital on it’s success during it’s first full year of operation…and special thanks to the Duncans!
Congratulations to the professionals at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital on it’s success during it’s first full year of operation…and special thanks to the Duncans!
Schools reach out with innovative treatment plans
Source
Detroit Free Press May 6, 2007
Based on feedback provided by Scott Novitsky of Walker, Michigan, USA, father of Maiya (4 RTT).
Excerpt
The increase in autism cases is creating challenges for public schools across metro Detroit that are charged with providing a free education to all children, even if that means they have to treat a disability before a child can learn. Because insurance companies rarely cover costly therapies and programs for children with autism, the schools are often their only source of treatment. And the schools are searching for new approaches to reach them.
While public schools are the main provider of resources and treatment for children with autism, there is no consistency in the availability or quality of programs from one district to the next because Michigan does not mandate what schools should do for these children. In 2005-06, Michigan’s public schools spent $93.5 million on programs just for children with autism. That money is on top of what the schools pay special-education teachers, psychologists, social workers and others who also deal with children with autism.
For parents who are not happy with their local district’s offerings, the only alternative is making their way through a maze of costly programs and medical treatments. Scott Novitsky of Walker considers himself one of the fortunate few. His insurance helps pay the small army of professionals treating his 4-year-old daughter, Maiya. She has Rett syndrome, a severe form of autism. She does not speak, has gastrointestinal problems and has no control of her hands. She suffers from uncontrollable repetitive movements and uses a wheelchair. "The insurance companies wanted to pawn everything off on the school system," Novitsky said. His goal is to keep Maiya from regressing. If she makes gains, that’s even better. "We’re going to just enjoy the time we have with her and keep her happy," he said. "And hopefully the cure will come."
Story Link
Organization Link
AMBUCS A charitable service organization in 18 states in the US dedicated to creating mobility and independence for people with disabilities.
Study Purpose:
Rett Syndrome (RTT) is a genetic brain disorder that occurs almost exclusively in females and is usually caused by a change (mutation) in the gene MECP2. The disorder is characterized by multiple developmental problems, as well as behavioral symptoms, such as repetitive stereotypic hand movements, including hand washing, wringing, and tapping. While there is no cure for RTT, recent advances in the understanding of the disease suggest that the development of new, effective therapies is promising. This study will gather information on the genetic defects that cause RTT, the physical expressions of these defects, and disease progression. In turn, this may direct the development of future treatments.
Study Type: Observational
Study Design: Natural History, Longitudinal, Defined Population, Retrospective/Prospective Study
Official Title: Rett Syndrome Natural History
Expected Total Enrollment: 1100 Study start: March 2006
RTT is a brain disorder that causes problems with childhood development. It is usually caused by an abnormality (mutation) in the gene MECP2. RTT can cause severe impairments in movement and communication skills, including talking and social interaction. The first signs of RTT include loss of acquired speech and loss of purposeful hand use for activities such as eating or playing. Individuals may also develop abnormal walking, repetitive hand movements, such as clapping or wringing, and abnormal breathing while awake.
Effective treatments for RTT are currently lacking. There is also inadequate information about the link between RTT’s clinical features and its genetic basis. In order to prepare for future clinical trials that may lead to effective therapies, it is important to collect accurate information about the characteristics of RTT and the pattern of disease progression. This study will gather historical and physical examination data to establish phenotype-genotype correlations. Data on survival and quality of life in females with RTT and males with MECP2 gene mutations will also be evaluated.
Participants in this observational study will be recruited from the three sites at which the study is being conducted, as well as through the Rare Disease Clinical Research Network and the International Rett Syndrome Association (IRSA). Prior to study entry, potential participants are expected to be tested for a mutation in the MECP2 gene. No treatment will be administered at any time during this study. Study visits will occur every 6 months until the child is 12 years old and once a year for 5 years thereafter. At each study visit, participants will be examined to assess physical effects of the disease, such as motor behavior and disease severity. Additionally, participants will complete questionnaires about medical history, contact information, and quality of life. The first visit will last approximately 1.5 hours, and every subsequent visit will last approximately 1 hour.
Eligibility
Genders Eligible for Study: Both
Inclusion Criteria:
- Meets clinical criteria for classic or variant RTT or tests positive for an MECP2 gene mutation
Exclusion Criteria:
- Unwilling or unable to travel to study sites for annual or biannual evaluations
Location and Contact Information
Please tell them you read about this in Rett Syndrome Magazine
Refer to this study by ClinicalTrials.gov identifier NCT00299312
United States – Study Chair, Principal Investigators
Baylor College of Medicine
Daniel Glaze, MD 713-798-7388 dglaze@tmh.tmc.edu
Judy Barrish, RN, BSN 832-822-1781 jobarris@texaschildrenshospital.org
Judy Barrish, RN, BSN 832-822-1781 jobarris@texaschildrenshospital.org
Alabama
University of Alabama at Birmingham
University of Alabama at Birmingham
Recruiting: Jane Lane, RN, BSN 205-934-1130 jlane@uab.edu
Alan Percy, MD, Principal Investigator
Alan Percy, MD, Principal Investigator
South Carolina
Greenwood Genetic Center, Greenwood, South Carolina, 29646, United States; Recruiting: Mike Friez, PhD, Steve Skinner, MD