Rett syndrome is considered one of the autism spectrum disorders. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children. Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begin in early life and influence multiple areas of development. Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Rett syndrome is estimated to affect one in every 10,000 to 15,000 live female births and in all racial and ethnic groups worldwide. Rett syndrome is a genetic disorder, in which less than 1 percent of recorded cases are inherited or passed from one generation to the next. At first Rett syndrome was considered to be a neurodegenerative disease but with research in mice over the past five years, it is being classified as a neurodevelopmental disease. Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome. There is currently no cure for Rett Syndrome at this present time.
Rett Syndrome was first observed in 1977 in Austria by Andres Rett and in 1983 in Sweden by Hagberg and colleagues. Hagberg’s original description reads: “A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett syndrome.” The disorder presents in small girls with loss of speech, purposeful hand use, loss of swallowing mechanisms, dystonia, stereotopies and ataxia. A few girls cannot walk, and may have epilepsy. The complex features in Rett syndrome define a demanding situation requiring complete daily care by parents and assistance from physicians and support groups. The healthy adults with Rett syndrome survive into their forties or fifties.
At first Rett syndrome was considered to be a neurodegenerative disease but with research in mice over the past five years, it is being classified as a neurodevelopmental disease. A few researchers have been concluding that Rett syndrome may be a genetic disorder but there is no clear conclusion as of right now. It is still unclear what factors trigger the onset of Rett syndrome. The gene that is responsible for the disorder is MECP2 on the X-chromosome. Abnormalities in MECP2 have been detected in boys with an infantile encephalopathy, as well as mental retardation. The organizations that help out families with children of Rett syndrome are Easter Seals, International Rett Syndrome Foundation, National Institute of Child Health and Human Development (NICHD), Rett Syndrome Research Trust, and National Institute of Mental Health (NIMH).
The purpose of this paper is to define and discuss Rett syndrome and to show how Rett syndrome impacts the child and their family. First, this paper will define Rett syndrome. Then, this paper will show Rett syndrome is a genetic disorder. Then, this paper will show how Rett syndrome is diagnosed. Then, this paper will discuss research that is being conducted about Rett syndrome. Finally, this paper will discuss the impact the diagnosis has on the child and the family. Rett syndrome is a developmental disability disorder resulting in severe mental and physical deficits in female children (Sullivan, 1994). Rett syndrome is grouped as a pervasive developmental disorder (PDD) in which conditions are severe and pervasive, and that begin in early life and influence multiple areas of development (Smith, 1995). Rett syndrome is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability (Rett Syndrome Fact Sheet, 2011). The disorder was identified by Dr. Andreas Rett, an Austrian physician who first described it in a journal article in 1966 after he noticed two girls in his waiting room exhibiting identical hand mannerisms (Perry, 1991).
He subsequently identified 20 other girls with mental retardation who exhibited similar hand movements and shared a number of other features (Kerr & Stephenson, 1985). It was not until after a second article about the disorder, published in 1983 by Swedish researcher Dr. Bengt Hagberg, that the disorder was generally recognized (Hagberg, 1983). Rett syndrome, including the age of onset and the severity of symptoms, varies from child to child. Before the symptoms begin, however, the child generally appears to grow and develop normally, although there are often subtle abnormalities even in early infancy, such as loss of muscle tone (hypotonia), difficulty feeding, and jerkiness in limb movements. Then, gradually, mental and physical symptoms appear. As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak (Rett Syndrome, 2010). Other early symptoms may include problems crawling or walking and diminished eye contact (Rett Syndrome, 2010).
The onset of a period of regression is sometimes sudden. Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech (Smith, 1995). Rett syndrome is considered one of the autism spectrum disorders (Krug, 1980). Rett syndrome is estimated to affect one in every 10,000 to 15,000 live female births and in all racial and ethnic groups worldwide (Rett Syndrome, 2010). Rett syndrome is a genetic disorder, in which less than 1 percent of recorded cases are inherited or passed from one generation to the next (Rett Syndrome Ract Sheet, 2011). Most cases of Rett syndrome are caused by a mutation on the MECP2 gene, which is found on the X chromosome (Rett Syndrome, 2010). The Rett syndrome disorder occurs spontaneously in most affected individuals, which means the mutation occurs randomly. However, in some families of individuals affected by Rett syndrome, there are other female family members who have a mutation of their MECP2 gene but do not show clinical symptoms. These females are known as “asymptomatic female carriers” (Harris, n.d).
Prenatal testing is available for families with an affected daughter who has an identified MECP2 gene, however, the risk of a family having a second child with the disorder is less than 1 percent. According to the DSM-IV- fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV; American Psychiatric Association [APA], 1994)-pervasive developmental disorders refers to a group of severe and pervasive conditions that begin in infancy or early childhood, and have an impact on several areas of development including socialization, language, and stereo-typed or perseverative behaviors. Rett syndrome is distinguished from autistic disorder by apparently normal development through 5 months of age, followed by a deceleration of head growth, a loss of previously acquired purposeful hand movements, and a loss of social engagement (Olsson, 1987). Certain symptoms, such as teeth grinding, hyperventilation, and breath holding are typically seen in individuals with Rett disorder but not autistic disorder (Van Acker, 1991).
Eye contact is typically present and intense in girls with Rett disorder but absent in children with autistic disorder (Perry, 1991). Diagnosing Rett syndrome is complicated by a changing clinical picture. Doctors clinically diagnose Rett syndrome by observing signs and symptoms during the child’s early growth and development, and conducting ongoing evaluations of the child’s physical and neurological status (Rapoport & Ismond, 1990). Scientists have developed a genetic test to complement the clinical diagnosis, which involves searching for the MECP2 mutation on the child’s X chromosome. A diagnosis of Rett syndrome requires the appearance of poorly coordinated gait and trunk movements (Smith, 1995). Van Acker (1991) outlines four stages into which Rett syndrome disorder commonly divided. Stage One occurs between 6 and 18 months and is characterized by developmental stagnation. At this time, the child exhibits decelerated head/brain growth, floppy muscle tone, and a decreased interest in play activities and the environment.
Stage Two, occurring between 12-36 months, is marked by regression. Previously acquired language, social, and motor skills deteriorate while social aloofness and stereotypical behaviors emerge. In Stage Three, occurring between 2-10 years, social aloofness decreases while dementia and difficulty with motor planning and execution become central. Finally, Stage Four involves further progression of motor symptoms contrasted by continued improvement in social interactive behaviors such as eye contact (Perry, 1991). There is currently no cure for Rett Syndrome. However, girls can be treated for some of the problems associated with the condition. These treatments generally aim to slow the loss of abilities, improve or preserve movement, and encourage communication and social contact. Understanding the cause of this disorder is necessary for developing new therapies to manage specific symptoms, as well as for providing better methods of diagnosis. Within the Federal government, the National Institute of Neurological Disorders and Stroke (NINDS), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), the National Institute of Mental Health (NIMH), and the Office of Rare Diseases Research (ORDR) support clinical and basic research on Rett syndrome.
One NINDS-supported study looks for mutations in the MECP2 gene of individuals with Rett syndrome to learn about MeCP2 protein function and dysfunction. Other research aims at identifying molecular pathways that are affected by the dysfunction, developing animal models of the disorder, and early-stage therapy development. Some researchers suggest that the specific type of mutation in the MECP2 gene affects the severity of symptoms of Rett syndrome. Scientists know that lack of a properly functioning MECP2 protein disturbs the function of mature brain cells but they do not know the exact mechanisms by which this happens. Investigators are trying to find other genetic switches that operate in a similar way to the MeCP2 protein. Once they discover how the protein works and locate similar switches, they may devise therapies that can substitute for the malfunctioning switch. Another outcome might involve manipulating other biochemical pathways to compensate for the malfunctioning MECP2 gene, thereby preventing progression of the disorder. Researchers are also trying to find other genes that may be involved in Rett syndrome (Rett Syndrome Fact Sheet, 2011).
Despite the difficulties with symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy. While there are women in their 40s and 50s with the disorder, currently it is not possible to make reliable estimates about life expectancy beyond age 40 (Smith, 1995). Children with Rett syndrome need help with most daily tasks, such as eating, walking and using the bathroom. This constant care can be exhausting and stressful for families. It’s natural to feel overwhelmed at times (Tsai, 1992). Talking about problems can help relieve feelings of stress. Many families affected by Rett syndrome care for their children at home, often with the help of outside caregivers who can give parents a respite. Another option for a family is to choose residential care, especially when their children become adults. Each family and each child with Rett syndrome is different.
But connecting with other families facing the same problems can help overcome the sense of being alone. To deal with the many medical, emotional, economic, and educational challenges encountered by families who live with Rett syndrome, a collaborative approach of pediatricians, neuropediatricians, orthopedists, physiotherapists, special communication teachers, family therapists, and family members and friends is needed (Braddock, 1993). Whereas, individuals with Rett syndrome often benefit from a team approach to care, in which many kinds of health care providers play a role, along with family members. A team approach to improve quality of life could include: Physical therapists, who can help patients improve or maintain mobility and balance and reduce misshapen back and limbs, Occupational therapists, who can help patients improve or maintain use of their hands and reduce stereotypic hand movements, Speech-language therapists, who can help patients use non-verbal ways of communication and improve social interaction (Antonovsky, 1988).
Online support and information are available from the International Rett Syndrome Association and other organizations (Rett Syndrome, 2010). The purpose of this paper was to define and discuss Rett syndrome and to show how Rett syndrome impacts the child and their family. First, this paper defined Rett syndrome. Then, this paper showed Rett syndrome is a genetic disorder. Then, this paper showed how Rett syndrome is diagnosed. Then, this paper discussed research that is being conducted about Rett syndrome. Finally, this paper discussed the impact Rett syndrome has on the child and the family. By defining and discussing Rett syndrome and showing how Rett syndrome impacts the child and their family, this paper helps the reader understand why Rett syndrome is difficult to diagnose and the quality of life challenges encountered by families who live with Rett syndrome.
Why did I choose this topic? This topic stems off from an area I truly am interested in, Autism. The story goes for my involvement as a camp counselor for the organization NWSRA (Northwest Special Recreational Association). I was assigned to work with a boy who was diagnosed with autism (vocal), hearing and speech learning disabilities, and attention hyperactive disorder. We were paired up due to my hearing and speech disorder along with attention deficit disorder. Let’s say that summer was interesting one. His doctor took off his ADHD medicine to see if he still in need of them. The counselors for that first week took shifts in running around after him; he would run the length of a football field till parents came. I was in the best shape of my life during that summer. But I hit my breaking point after five days of running and getting beaten up. The parents of the child were asked if there was a way to for me to work with him. I worked one-on-one with them for a week straight to learn his triggers, how to place him in a hold, what his gestures mean, and how we can help him adjust to a new setting. The parents also placed him back on his medications, hallelujah.
After working with him for a week, I saw a drastic improvement in his demeanor, communication skills, relief of frustrations, etc… After that one month I knew what I wanted to do was to be working with individuals with special needs. Six years later, I still work with him during certain events and get to see him grow up. I do fundraising events with his parents to bring awareness to multiple disorders that effect children. With the work I had done with that certain boy made me want to look at another disorder that was similar to autism. And that is how I came about writing about Rett Syndrome. I wanted an area that was unfamiliar to me and had never seen before till during my placement for student teaching. I had children with Down syndrome, Cerebral Palsy, a vast array of learning disabilities, and emotional/behavior disorder in my classroom but not Rett syndrome. After I left my position, I continued to talk to a few of the teachers and was discussing this other boy in another classroom and the disorder he had. I never understood what they were talking about because they were discussing Rett syndrome. It wasn’t till this paper that allowed me to understand the disorder and was able to share the information I learned with the teachers at the school. This has been a learning experience for myself and others around me.
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