Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in women and affects the development after an initial six-month period of normal development. Diagnosis is based on clinical observation of signs and symptoms during the early growth and development of the child, regular ongoing review of the physical and neurological status of the child and genetic tests to look for the MECP2 gene mutation on the X chromosome of the child (Xq28). The treatment involves a multidisciplinary approach that focuses on treating the symptoms.

An estimated Rett syndrome affects one of 10,000 to 15,000 female live births in all races and ethnic groups worldwide. Most cases are accidental, spontaneous mutations; <1% of recorded cases are inherited or passed on from one generation to the next. Girl with the typical clinical picture of Rett syndrome are usually born at term, after an uneventful pregnancy and childbirth. Boys are rarely affected.

Rett syndrome is a neurodevelopmental disorder that occurs almost exclusively in women and affects the development after an initial six-month period of normal development. Diagnosis is based on clinical observation of signs and symptoms during the early growth and development of the child, regular ongoing review of the physical and neurological status of the child and genetic tests to look for the MECP2 gene mutation on the X chromosome of the child (Xq28). The treatment involves a multidisciplinary approach that focuses on treating the symptoms. An estimated Rett syndrome affects one of 10,000 to 15,000 female live births in all races and ethnic groups worldwide. Most cases are accidental, spontaneous mutations; <1% of recorded cases are inherited or passed on from one generation to the next. Girl with the typical clinical picture of Rett syndrome are usually born at term, after an uneventful pregnancy and childbirth. Boys are rarely affected. In etiology usually caused Rett syndrome is caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) gene. The MECP2 gene is involved in the production of a protein called methyl-cystine-binding protein 2 (MeCP2), which is required for the development of the brain and acts as a biochemical switch that can either increase gene expression or tell other genes when they need have to adjust production to their unique proteins. The MECP2 gene does not function normally in Rett syndrome, so structurally abnormal forms or insufficient amounts of the protein are produced and cause other genes have an abnormal gene expression. Rett syndrome is not always caused by a MECP2 mutation, but can by partial gene deletions, mutations caused in other genes (eg. B., CDKL5- and FOXG1 genes) that the development of the brain in atypical Rett syndrome concern, mutations in other parts of the MECP2 gene and possibly other genes that have not yet been identified. Now that a genetic cause of Rett syndrome was identified, it was of the autism spectrum disorders separately (Inconsistent with genetic causes associated), based on criteria from the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM -5). Symptoms and complaints The course, age of onset and severity of symptoms of Rett syndrome vary from child to child. Rett syndrome is characterized by normal early growth and development, followed by slowing the development milestones and then regression of skills with the loss of purposeful use of the hands with compulsive hand-wringing and washing behavior, slower head and brain growth, seizures, difficulty walking and limited Intellect. It uses four stages to describe the symptoms of Rett syndrome: Stage 1 (early onset) usually starts when the child is between 6 and 18 months old, with a subtle slowing of development. The symptoms can include less eye contact, decreased interest in toys, delays in sitting or crawling, reduced head growth and hand-wringing. Stage 2 (developmental regression or rapid destructive stage) usually begins aged between 1 and 4 years. The onset can be rapid or gradual with the loss of specific skills of the hand and the spoken language. During this phase characteristic hand movements such as wringing, clapping, washing, knocking and always bring your hands to your mouth begin. The movements disappear during sleep. Breathing irregularities can occur, such as episodes of apnea and hyperventilation. Walking may be uncertain, and initial motor movements can be difficult. Some girls may also have symptoms that resemble those of autism spectrum disorders, such as impaired social interaction and communication. Stage 3 (sseudostationäre stage) usually starts between the ages of 2 to 10 years and can take years. Epileptic seizures, motor deficits and apraxia are often at this stage. Sometimes symptoms include crying, irritability and autism-like symptoms returned during this phase. Vigilance, communication skills, attention span and interest in the area may increase during this phase. Stage 4 (Level of late motor deterioration) can last for years or decades. Common features are scoliosis, decreased mobility, muscle weakness, spasticity or rigidity. Sometimes walking can stop agreement on the eye movement is prevalent when the spoken language is not present, and repetitive hand movements may decrease. Children can develop scoliosis. Heart disease (such as prolonged QT interval) are often present. Affected children have slowed the growth and tend to have difficulty in maintaining the weight. Diagnosis Clinical genetic testing The diagnosis is made clinically by observing the signs and symptoms during the early growth and development of the child. Ongoing evaluation of the child physical and neurological status is required. Genetic tests for MECP2 mutation on the X chromosome (Xq28) can be used to complement clinical diagnosis. The National Institute of Neurological Disorders and Stroke (NINDS) provides guidelines to confirm the clinical diagnosis of Rett syndrome. These guidelines divide the clinical diagnostic criteria in the main, supportive and exclusion criteria. The main diagnostic criteria include loss of all or part of special skills, repetitive hand movements (such as wringing or squeezing, clapping or rubbing), loss of all or part of speech and gait disturbances including toe walking, unsteady, broad or stiff gait. The supporting criteria are not for a diagnosis of Rett syndrome required, but can occur in some children. A child with supportive criteria but none of the most important criteria has not Rett syndrome. Supportive criteria are scoliosis, grinding of teeth, abnormal sleep patterns, small hands and feet in proportion to body size, cold hands and feet, abnormal muscle tone, communication with their eyes, inappropriate laughing or crying, and decreased response to pain. The exclusion criteria include the presence of other diseases that cause similar symptoms, including traumatic brain injury, grossly abnormal psychomotor development during the first six months as well as serious infections that cause neurological problems. Forecast Rett syndrome is rare, so there is little information on the long-term prognosis and life expectancy beyond 40 years. Sometimes cardiac abnormalities predispose children with Rett syndrome of sudden death, but usually survive children well into adulthood with comprehensive, multidisciplinary support. Therapy management of symptoms Multidisciplinary support team There is no cure of Rett syndrome. The treatment is optimal with a multidisciplinary approach to responding to the symptoms and discomfort. A program consisting of occupational therapy, physical therapy and communication therapy (with a speech therapist) should be offered to support the self-help skills related to eating and dressing, limited mobility, difficulty walking, and communication deficits. Medications may be required to control seizures, respiratory disorders or motor difficulties be regular reassessment is required for scoliosis progression and to follow cardiac abnormalities. Nutritional support may be required to help the affected children to maintain their weight. Special education programs and social and support services are needed. For more information NINDS Rett Syndrome Fact Sheet

Health Life Media Team

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