rett syndrome…

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rett syndrome, the nervous system that leads to regression in development, in the areas of expressive language, hand use, a genetic mutation, rett syndrome occurs exclusively in girls, misdiagnosed, autism, cerebral palsy, gene associated, rett syndrome is on the x-chromosome, gene contains instructions, creating methl-cpg-binding protein 2, mecp2, a protein that regulates the manufacture of various other proteins, mutations, in the mecp2 gene causes, proteins to be produced incorrectly, damages the maturing brain, studies link mutations in this gene to 75% of rett syndrome cases, females have two x chromosomes, one has this significant mutation, x chromosome provides enough normal protein, the child to survive, males conceived, mutation, not have a second x chromosome to compensate, the problem, mutation, lethal, miscarriage, stillbirth, very early death, most cases, the mutation arise spontaneously, some clusters, families, certain geographic regions, example norway, sweden, northern italy, an infant, rett syndrome, has normal development, the first 6-18 months, once symptoms, begin, vary greatly from mild to severe, in fact, at least six variants, been identified to date, four distinct stages, the international rett syndrome association website, stages, hypotonia, floppy arms, legs, frequently the first sign, slowing head growth beginning at approximately 5-6 months of age, developmental regression, severely impaired language development, loss of purposeful hand movements, pincer grasp, pick up small objects is replaced by repetitive hand motions, hand wringing, constant placement of hands in mouth, apraxia, partial, complete inability to carry out purposeful movements, shaky, unsteady, stiff gait, toe walking, loss of social engagement, seizures, 1/3 of patients, intermittent hyperventilation, a disorganized breathing pattern, air swallowing, breath holding, breathing abnormalities tend to worsen, stress, breathing, normal, sleep, abnormal awake, scoliosis, loss of normal sleep patterns, poor circulation, lead to cold, bluish arms, legs, small feet, intellectual disabilities, learning difficulties, assessing cognitive skills in those, rett syndrome, difficult, the speech, hand motion abnormalities, gastrointestinal complaints, ongoing, severe constipation, gastroesophageal reflus, gerd, sleep disturbances, excessive saliva, drooling, chromosomal analysis, search, the gene mutations that cause rett syndrome, mutations, the mecp2 gene, found in 75% of girls, rett syndrome, this gene abnormality is not identified in everyone, diagnosis of rett syndrome is still, several different types of rett syndrome, classical, meets the diagnostic criteria, provisional, evidence between ages 1, atypical, rett syndrome is classified, atypical, begins earlier, soon after birth, beyond 18 months of age, 4 years old, speech, hand skill abnormalities, milder, found, boy, one boy, rett syndrome, did not have the mecp2 gene mutation in every copy, the gene in his body, in another case, boy was xxy, he had an extra x chromosome, treatment, supportive care, assistance, feeding, diapering, treating symptoms, constipation, gerd, supplemental feeding, slowed growth, diets high in calores, fat, nasogastric tube feeds, increase weight, height, weight gain, improve alertness, social interactions, rett syndrome is prone to breathing in food, a feeding tube, stomach recommended, physical therapy, the hands, prevent them from contracting, weight bearing exercises, frequent followup, scoliosis, carbamazepine, to treat seizures, medications, supplements, been used, studied, l-dopa, motor rigidity in later stages, l-carnitine, families report improvement in language skills, increased muscle mass, decreased constipation, increased alertness, less daytime sleeping, increased energy, improved quality of life daughters took carnitine, folate, betaine, dextromethorphan, bromocriptine, given the discovery of a genetic mutation associated, rett syndrome, research using gene therapy is underway, stem cell therapy, alone, in combination, gene therapy, another hopeful treatment that, thorough study, abnormalities in breathing pattern the most upsetting, difficult symptom, parents to watch, why they happen, what to, them is not well understood, studies, underway to evaluate various treatments, busperidone, buspar, naltraxone, magnesium citrate, most experts in rett syndrome recommend that parents remain calm, an episode of irregular breathing, breath holding, help to remind yourself that normal breathing always returns, daughter, grow accustomed, abnormal breathing pattern, the international rett syndrome association progression, of this disease, levels off once the patient reaches teenage years, seizures, breathing abnormalities, tend to lessen in late adolescence, each child's developmental regression, delays, different, it is hard to generalize, a child, rett syndrome sits up properly but, not crawl, crawl, using hands, "combat crawling" on the tummy, similarly, children walk independently, the normal age range, delayed, don't learn to walk independently at, don't learn to walk, late childhood, early adolescence, children who, learn to walk, normal time, keep that ability, lifetime, children lose the skill, life expectancies, not well studied, survival at least, mid-20s is likely, average life expectancy of a girl, rett syndrome mid-40s, death, related to seizure, aspiration pneumonia, malnutrition, accidents, call health care provider, have any concerns, child's development, a lack of normal development, motor, language skills, child, associated disorders that need treatment, likelihood of having another child, rett syndrome is less than 1%.