50+ Lifestyles

OCTOBER IS RETT SYNDROME AWARENESS MONTH

Health Minute With CASI

I hope that you will take a moment during this awareness month to educate someone who has never heard of Rett syndrome.

Rett Syndrome is a neurological disorder, which to date has only occurred in girls. It was first described in 1965, and the diagnosis depends upon documentation of medical history and physical and neurological status. Development is usually normal until about six to 18 months. The child usually will sit up independently and finger feed foods at a normal age. They will also begin to use single words and may even begin to walk, while others will show a significant delay. Stagnation or regression follows, during which the child loses purposeful use of the hands, replacing it with repetitive hand movements, which become constant. Intellectual development is severely delayed. Many children are misdiagnosed as autistic or cerebral palsied.

Diagnostic Criteria – Required for the recognition of Rett syndrome

• Period of normal development until between 6-18 months
• Normal head circumference, followed by a slowing rate
• Early loss of acquired behavior, social and motor skills
• Cognitive functioning in the severe to profound mental retarded range
• Loss of purposeful hand skills ages 1-4 years
• Repetitive hand movements, hand wringing, hand clapping and hand mouth movements. These movements can be constant.
• Shakiness of the torso, particularly when the child is upset or agitated
• Unsteady wide base gait and sometimes toe walking
• Tentative diagnosis 2-5 years

Supportive Criteria – Symptoms not required for the diagnosis, but which may also be seen.

• Breathing, holding the breath, hyperventilating and air swallowing which may result
in abnormal swelling
• EEG abnormalities, showing slow wave changes with the appearance of epileptiform and reduction in REM sleep
• Seizures in up to 80 percent of patients
• Muscle rigidity/ spasticity/ joint contractures
• Scoliosis
• Teeth grinding
• Small feet
• Growth retardation
• Decreased body fat and muscle mass
• Abnormal sleep patterns and irritability
• Poor circulation of the lower extremities, cold to touch and often bluish – red in color
• Decreased mobility with age

Treatment

There is minimal success at the treatment with medication, except for those for seizure control. Physical therapy is recommended for the muscles. Music therapy has been used for communicating. It is also believed to be
beneficial in reducing constant hand movements. Various orthotic devices are sometimes used to aid with toe
walking, scoliosis and hand clenching. Water hydrotherapy is also felt to helpful.

What Can You Do to Help?

Join the International Rett Syndrome Association. Join in the efforts to solve such a devastating disorder, so that we can make life better for these girls afflicted.