Rett Syndrome was first described by Dr. Andreas Rett in 1966 but was unknown in the United States until 1983. Rett Syndrome is a neurological disorder that affects mainly women. Boys who develop Rett Syndrome usually die early, are stillborn, or miscarried. Rett Syndrome is frequently misdiagnosed as autism, cerebral palsy, or a non-specific developmental delay. The signature symptom of Rett Syndrome is that the child is born normal and healthy. They usually develop normally until 6 to 18 months of age. At this time, they seem to enter a period of regression. While Rett Syndrome seems to be more prevalent in girls, it appears to have no prevalence in regard to race or ethnic groups. Rett Syndrome seems to affect all races and ethnic groups equally.
Once the child begins to regress, several other symptoms begin to appear. Rett Syndrome girls begin to lose their communication skills. Those who were beginning to talk usually lose the ability to speak.
The use of her hands becomes more stereotyped, posture becomes more rigid, walking becomes more difficult, and there is an apparent slowing in the growth rate of the head. The Rett Syndrome child usually develops apraxia, which is the inability to perform motor movements. Breathing problems are common with Rett Syndrome. Abnormal breathing such as hyperventilation, holding breath, apnea, and rapid shallow breathing is frequently associated with Rett Syndrome. A large number of Rett girls also swallow air, causing their stomachs to become hard and distended.
As the Rett Syndrome child grows, her hand movements become more stereotyped and may include hand wringing, clapping, and hand tapping. A symptom of Rett Syndrome that is always there is scoliosis, or a curvature of the spine. This problem may eventually lead to surgery and/or braces. Seizures are common and usually can be controlled with medicine. Most girls outgrow the seizures eventually as they get older. Excessive drooling seems to be associated with difficulty in swallowing, chewing, and digestion. Acid reflux or GERD is another common symptom. More than 85% of Rett Syndrome girls have severe problems with constipation. This may be associated with the lack of physical activity, poor muscle tone, poor diet, seizure medications, low fluid intake and scoliosis. Motor development is severely retarded. The Rett Syndrome child usually has a wide-based, unsteady, rigid gait. As she grows older, she may lose her ability to walk at all. Bone fractures are common due to low bone minerals and decreased bone density. The Rett Syndrome child is usually small for their age and have a voracious appetite but still suffer from malnutrition. Circulation problems are common and often leave the Rett Syndrome child with cold feet, blue or red feet, and abnormal growth of the feet. Sleep is always something that does not come easy to the Rett Syndrome person. They tend to sleep more in the day and stay awake all night. The Rett Syndrome girl also has a very high level of agitation and irritation. This leads to frequent crying spells and irrational anger which may be carried out in self-abusive behaviors such as hand biting and hair pulling. Teeth grinding is also a very common action.
There has been quite a bit of research into the cause of Rett Syndrome. In October, 1999, a genetic mutation on the X chromosome was found in 75% of the known Rett Syndrome cases. Rett Syndrome affects 1 in 10,000 live female births and is spread out among various cultures, races, and ethnic groups. That rate is now believed to be higher than originally thought. To be diagnosed with Rett Syndrome, there are several criteria requirements that must be met. There must have been a period of normal development and a stage of regression. There must be a loss of communication skills such as verbal actions and the onset of stereotyped hand movements. Among these requirements are also seizures, irregular breathing patterns, scoliosis and chewing or swallowing difficulties. Also noted is the decreased mobility, poor circulation, small feet, abnormal sleep patterns, and irritability and agitation. Rett Syndrome is diagnosed by a blood test and by looking at growth and development. It is usually diagnosed into three different categories. Classic Rett Syndrome must meet all the diagnostic criteria. Provisional Rett Syndrome has a later onset of 1 year to 3 years of age. Atypical Rett Syndrome may not start until age 3 years to 4 years or there may have been no normal early development to regress to. Rett Syndrome typically occurs only once in a family and is not contagious. This means that it cannot be transferred from person to person. Based on the gene mutation of the X chromosome, Rett Syndrome does not appear to be inherited or have a genetic base. Rett Syndrome girls usually live to adulthood. There is a 95% chance of survival to 20-25 years, 69% chance to 25-40 years, and may even exceed 47 years of age. As stated before, boys with Rett Syndrome usually do not survive.
Rett Syndrome children are not able to take care of themselves. Someone must provide all their daily needs. These needs include bathing, dressing, oral hygiene, grooming, toileting, positioning, and transferring or transportation. Rett Syndrome children also require long term care as they never regain their proper development. There are several therapies used in continuing treatment of Rett Syndrome. Physical therapy is a necessity. It can help to maintain ambulation and balance as well as keep the muscles stronger. Speech therapy is used to hopefully help the person regain some verbal skills and to aid in communication. Nutritional support is also a necessary therapy. Even though Rett girls have outrageous appetites, many still suffer from malnutrition. Special diets are sometimes needed and if the malnutrition or chewing problems are great enough, a G-tube may be required. Continued nutrition monitoring is essential to their well-being. Medical care is another necessity. Seizures must be kept under control and seizure medications must be monitored in the bloodstream. Many Rett Syndrome girls undergo occupational therapy to promote and improve the use of their hands. Most girls with Rett Syndrome enjoy music. Therefore, music therapy is used to promote and enhance communication skills. Hydrotherapy, which is water-based, is used frequently to aid in mobility and circulation and to build up muscle tone. It is also useful to relieve some of the rigidity faced by Rett Syndrome girls.
Girls with Rett Syndrome can attend public schools in special classes until the age of 21. After that, other alternatives are needed. The Rett Syndrome girl needs an adult program to help meet her special needs as well as continuing therapy and medical care to help her remain as mobile as possible. She also needs as many opportunities as possible to participate in community activities. Guided participation of her care is a team effort between the professionals and her family. It teaches about the care she needs and works with the family to solve any problems that will come up. There are many services available to families to help them with the care of their Rett Syndrome child. These services include respite, hospice, and in-home care. As she gets older, there are also sheltered workshops, day centers, and residential programs available. Funding is an extremely hard thing for families. Rett Syndrome does not go away. It is a continuing disorder that requires special long term care and expensive equipment. Private insurance will pay a portion of the care needed. Another source for financial help is the Medicaid waiver. This can be obtained regardless of the parent's income. The idea is that at home care costs less than institutional care. If the person is determined to be at risk for full institutionalization, then they can also qualify for full medical benefits. Medical services provided include home health aid, personal care, respite care, behavior intervention training, and communication services. Full medical benefits also include physician services, medications, supplies, surgery, special equipment, and family planning services. Other funding sources include vocational rehabilitation programs, private corporations, trust funds, service clubs, fund-raisers, and wishmaker organizations. Also included can public appeals to make the public more aware and get help.
As the Rett Syndrome girl gets older, there are advantages and disadvantages that she faces. The majority of the girls settle down and have less irritation. They seem to maintain better eye contact, have fewer panic attacks, have better controlled seizures, and have less breathing problems. For some, their mental state is stable and they can continue to learn. A few Rett Syndrome girls actually attend college with assistance. Some can increase the use of their hands and improve their communication skills. However, there is another side to this. It is the disadvantaged side. Some of these girls face very large disadvantages as they get older. They may develop a more rigid posture and a more severe scoliosis. Many have decreased mobility and may become overweight. Some of the girls can regress to the frequent crying and irritability of their younger years.
Whenever a child is disabled, there is a great impact on the entire family. Financial concerns causes many problems. Special needs children have many problems that require a lot of money to care for. There is also a very physical impact for the family caregiver. Many become exhausted from the day to day care that is required of them. The Rett Syndrome child is unable to personally care for herself so her care falls to the family caregivers. On top of the physical work, there is a lot of leg work and paperwork involved. The family must find the right doctors, therapies, schools, and equipment needed to insure proper care. Emotional strain is also a large impact on the family. Many suffer from anger at losing their privacy and may become more resentful and frustrated. The parent must face the lost dreams that they had for their child and face a very insensitive public. Rett Syndrome girls have many sleeping difficulties and this causes their family to also lose sleep. Many just become tired, exhausted, discouraged, and depressed. One mother of a Rett Syndrome girl points out that it is important to ask for help. Other things that she recommends is to trust your own judgment, spend time with your other children, and accept what you cannot change. Many parents of Rett Syndrome children feel guilty and they must learn to get rid of this guilt to manage their own stress level. Rett Syndrome puts a double impact on families. For 6-18 months, they have a healthy child. Then, all of a sudden, their child begins to lose their abilities. It is a severe blow for parents to have to deal with. However, parents are not the only ones that have to deal with this. Siblings of children with Rett Syndrome also carry a great impact. Sine Rett Syndrome girls require so much care, their siblings often feel neglected and resentful. One story I read was about Jennifer whose sister, Reba, has Rett Syndrome. When Reba was diagnosed with Rett, Jennifer recalls feeling mad, upset, angry, hateful, and resentful. She said that Reba's constant crying drove her crazy and that she had to take turns with other family members walking Reba to keep her calm. She also said that her feelings began to change as she spent more time with Reba. She stated that the one thing that helped most of all was that their family leaned on each other with love and support. Even though Reba has Rett Syndrome, Jennifer feels that she has learned a lot from her. She has learned to be more patient, understanding, caring, loving, and how to take time for the little things in life. Despite the many hard things that are involved in the care of a Rett Syndrome girl, Jennifer says that she would not trade Reba for all the "normal" children in the world.
The goal of therapists in the care of girls with Rett Syndrome is to maintain functional skills. It is a team effort between doctors, neurologists, families, orthopedics, and nutritionists. Therapists must adapt treatment and management to a changing clinical picture. They must help the family prepare for a gradual transition for larger problems in the future. many therapists are focused on family education. It is also important for the therapist to capture the Rett Syndrome girl's attention and maintain emotional contact with her. Also important is that the therapist must be realistic about the goals that are to be met. While Rett Syndrome is a devastating dysfunctional disorder, continued care, therapy, and family support are necessary. With proper care and intervention, Rett Syndrome girls can live a long successful life and anyone coming in contact with them will be better off just for knowing them.
Sources 1. About Rett Syndrome http://www.rsrf 2. Life with Reba by Jennifer http://www.faculty.fairfield.edu 3. Rett Syndrome Information and Resources http://www.rettsyndrome.org 4. Support of Family Caregiving for Children with Special http://parenthood.library.wisc.edu