Rett syndrome, a common cause of mental retardation seen almost exclusively in females, is believed to be caused by a faulty gene. Scientists announced these findings in 1999 and will assist doctors in diagnosing and recommending therapy for the incurable disorder.
Rett syndrome, which currently affects as many as 10,000 females across the country, only rarely runs in families. It is believed to be caused by a one-time genetic mutation. A child may display normal or near-normal in development until six to eighteen months of life. She may smile, sit-up and begin to walk and talk, but within a couple of years, she will start losing some of these skills. Common characteristics of Rett syndrome include:
• Loss of use of hands for picking up and holding items and use of repetitive hand movements, such as wringing, "washing and clapping;
• Less than normal head growth;
• Loss of ability to say words;
• Walking (if the individual is able) on toes and/or legs that are stiffly and wide apart;
• Seizures (caused by powerful jolts from the brain) and the accompanying unusual movements or behavior;
• Irregular breathing, such as apnea (holding breath) or hyperventilation (huffing and puffing
• Mild to severe scoliosis (curvature of the spine)
Rett syndrome can be difficult to detect; it often is misdiagnosed as autism, cerebral palsy or non-specific developmental delay. A pediatric neurologist or developmental pediatrician should be consulted to confirm the clinical diagnosis. Accurate and early detection of this syndrome is important so that the individual can begin needed therapies as soon as possible.
Those affected may require medication to improve breathing or motor coordination or to control seizures. Also, physical and occupational therapy can help them move better, walk and regain the use of their hands. Speech therapy-usually ineffective in helping people with Rett syndrome regain their speaking skills-nonetheless can provide training in alternate ways of communication. Music therapy, horseback therapy, and hydrotherapy also are beneficial for persons with the syndrome. Rett syndrome is one of the more than 200 known causes of mental retardation.
March is Mental Retardation and Developmental Disabilities Awareness Month, and one of its purposes is to inform the public about programs offered through the local community MHMR center. MHMRST has provided services in Cooke, Fannin and Grayson counties to individuals with mental and intellectual challenges since 1974. These services include: Consumer Benefits, Continuity of Services, Intake, Eligibility and Diagnostics Services; Service Authorization, Service Coordination, DADS Waiver Programs (HCS and TXHML), DADS ICRMR Residential Progeam, IN-Home and Family Support, Transition Planning, Adult Day Habilitation/Client Worker Training Program, Community Support Services, Representative Payee Management Services, Respite Services, Supported Home Living Services, and After School Program. Persons interested in learning more about services may call (903) 957-4795.
Local News
Rett Syndrome - One cause of mental retardation
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