| RettSyndrome (RS) is a neurological disorder seen almost exclusively in females, and found in a varety of racial and ethnic groups worldwide.It is now felt that RS can occur in males, but is usually lethal, causing miscarriage, stillbirth or early death. First described by Dr. Andreas Rett, RS received worldwide recognition following a paper by Dr. Bengt Hagber and colleagues in 1983. The child with RS usually shows an early period of apparently normal or near normal development until 6-18 months of life. A period of temporary stagnmation or regression follows during which the child loses communication skills and purposeful use of the hands. Soon, stereotypical hand movements, gait disturbacnes, and slowing of the rate of head growth become apparent. Other problems may include seizures and disorganized breathing patterns which occur when awake. Apraxia (dyspraxia), the inability to rogram the body to perform motor movements, is the most fundamental and severely handicapping aspect of RS. It can interfere with every body movement, including eye gaze and speech, making it difficult for the child with RS to do what she wants to do. RS is most often mis-diagnosed as Autism, cerebral palsy or non-specific developmental delay. While many health proffesionals may not be familiar with RS, it is a relatively frequent cause of neurological dysfunction in females. The prevelance rate in various countries is from 1:10,000 to 1:23,000 live female births. The younge girl with RS is well known for her attractive features, and as she grows older, her especially penetrating eyes. She typically sits independantly and finger feeds at the expected time. Most girls do not crawl typically, but may "bottom scoot" or "combat crawl" without using their hands. Some children start to use single words and word combinations before they lose this ability. It is difficult to predict the severity of RS in individuals. Many girls begin independant walking within the normal age range, while others show significant delay or inability to walk independantly. Some begin walking and lose this skill, while others comtimue to walk throughout life. Still others do not walk until late childhood or adolescence, and some never walk. Seizures can range from non-existent to severe, and again some do not have seizures. Many children have breathing abnormalities, such as breath holding and air swallowing.. Scoliosis is a fairly prominent feature of RS. Despite theses difficulties, girls and women with RS can continue to learn and enjoy family and friendswell into middle age and beyond. They experience a full range of emotions and show their engaging personalties as they take part in social, educational and recreational activities at home and in the community. |
| What is Rett Syndrome? |
| Diagnostic Criteria for Rett Syndrome |
| The following are criteria required for the clinical recognition of Rett Syndrome after the exclusion of other handicapping conditions: Period of apparently normal development until between 6 - 18 months. Normal head circumfrance at birth followed by slowing of the rate of head growth with age (3 months - 4 years) Severely impaired expressive language and loss of purposeful hand skills, which combine to make assessment of receptive language and intelligence difficult. Repetitive hand movements including one or more of the following: hand washing, hand wringing, hand clapping, hand mouthing, which can become almost constant while awake. Shakiness of the torso, which may involve the limbs,particularly when upset or agitated. If able to walk, unsteady, wide-based, stiff-legged gait/toe walking. |
| Supportive Criteria |
| These are symptoms which are not required for the diagnosis of Rett Syndrome, but which may also be seen. They may not be seen in the young girl but may evolve with age. Breathing dysfunctions which include breath holding (apnea), hyperventilation and air swallowing which may result in abdominal bloating and distention. EEG abnormalities - slowing or normal electrical patterns, the appearance of epileptiform patterns and loss of normal sleep characteristics. Seizures. Muscle rigidity/spasticity/joint contractures which increase with age. Scoliosis. Teeth grinding. Small feet - in relationship to stature. Growth retardation. Decreased body fat and muscle mass (but tendancy toward obesity in some adults). Abnormal sleep patterns and irritability or agitation. Chewing and/or swallowing difficulties. Poor circulation of the lower extremities, cold and bluish-red feet and legs. Decreased mobility with age. Constipation. |
| A-typical Rett Syndrome |
| All the above criteria is for the classic form of Rett Syndrome. However there a many girls who have Rett Syndrome, but who do not display the above criteria, or only very mild forms of the criteria. These girls have an a-typical form of Retts. |
| Following information with thanks to the International Rett Syndrome Assosciation |
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| If you are interested in more information about Rett Syndrome, then why not get it from the experts - the mother's, father's, sibling's and caregivers of these wonderful Angels. Find them on rettangels clubrett, rettnet and rettsyndromeclub |
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| There is now a blood test available to diagnose Rett Syndrome. It is the MeCP2 test. However you can still have RS and test negative for this mutation. Much more research is still needed. If you wish to help please consider purchasing one of the enamel Rett Syndrome Awareness lapel pins. |