NationMaster - Encyclopedia: Rett syndrome

Rett syndrome/ disorder is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. Many^[1] argue that this is a misclassification just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down syndrome where one can see autistic features. The symptoms of this disorder are most easily confused with those of Angelman syndrome and autism. The clinical features include a deceleration of the rate of head growth (including microcephaly in some) and small hands and feet. Stereotypic, repetitive hand movements such as mouthing or wringing are also noted. Symptoms of the disorder include cognitive impairment and problems with socialization, the latter during the regression period. Socialization typically improves by the time they enter school. Girls with Rett syndrome are very prone to gastrointestinal disorders and up to 80% have seizures.^[2] They typically have no verbal skills, and about 50% of females are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // F00-F99 - Mental and behavioural disorders (F00-F09) Organic, including symptomatic, mental disorders (F00) Dementia in Alzheimers disease (F01) Vascular dementia (F011) Multi-infarct dementia (F02) Dementia in other diseases classified elsewhere (F020) Dementia in Picks disease (F021) Dementia in Creutzfeldt-Jakob disease (F022) Dementia in Huntingtons... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... The Diagnostic and Statistical Manual of Mental Disorders, published by the American Psychiatric Association, is the handbook used most often in diagnosing mental disorders in the United States and other countries. ... Fragile X syndrome is a syndrome of X-linked mental retardation. ... Tuberous sclerosis is a rare genetic disorder characterized by a triad of signs: seizures, mental retardation, and small benign facial skin tumors (angiofibromas). ... Angelman syndrome (AS) is a rare neuro-genetic disorder named after a British pediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. ... Autism is a brain development disorder characterized by impairments in social interaction and communication, and restricted and repetitive behavior, all exhibited before a child is three years old. ... The ambulatory (Med. ...

Cause

Rett syndrome (symbolized RTT) is caused by sporadic mutations in the gene MECP2 located on the X chromosome. It almost exclusively affects girls -- male fetuses with the disorder rarely survive to term. Development is typically normal until 6-18 months, when language and motor milestones regress, purposeful hand use is lost and acquired deceleration in the rate of head growth (resulting in microcephaly in some) is seen. Hand stereotypies are typical and breathing irregularities such as hyperventilation, breathholding, or sighing are seen in many. Early on, autistic-like behavior may be seen. Rett syndrome is usually caused (95% or more) by a de novo mutation in the child (so it is inherited from a genotypically normal mother, i.e. without a MECP2 mutation). It can also be inherited from phenotypically normal mothers who have a germline^[3] mutation in the gene encoding methyl-CpG-binding protein-2, MECP2. MECP2 is found near the end of the long arm of the X chromosome at Xq28. An atypical form of Rett syndrome, characterized by infantile spasms or early onset epilepsy, can also be caused by a mutation to the gene encoding cyclin-dependent kinase-like 5 (CDKL5). Rett syndrome affects one in every 12,500 female live births by age 12 years. MECP2 (methyl CpG binding protein 2 (Rett syndrome)) is a gene that provides instructions for making the protein MeCP2 that appears to be essential for the normal function of nerve cells. ... In general usage, de novo is a Latin expression meaning afresh, anew, beginning again. In Banking, a de novo bank is defined as a state member bank that has been in operation for five years or less. ... Germline is a word used in biology and genetics. ... MECP2 (methyl CpG binding protein 2 (Rett syndrome)) is a gene that provides instructions for making the protein MeCP2 that appears to be essential for the normal function of nerve cells. ... CDKL5 is a gene associated with Rett syndrome (though much less frequently than MECP2. ...

Gender and Rett syndrome

Most individuals with Rett syndrome are female. One explanation given for this was that the genetic defect that caused Rett syndrome in females caused embryonic lethality in males (that is, males with disease-causing MECP2 mutations died before they were born). While a plausible hypothesis, more recent research has contradicted this explanation. The incidence of Rett in males is unknown.^[4]

Most males with Rett syndrome have Klinefelter's syndrome which causes XXY chromosomes.

The severity of Rett syndrome in females can vary depending on the type and position of the MECP2 mutation and the pattern of X-chromosome inactivation. It is generally assumed that 50% of a female's cells use the maternal X chromosome while the other 50% uses the paternal X chromosome (see X-inactivation). However, if most cells in the brain activate the X chromosome with the functional MECP2 allele, the individual will have very mild Rett syndrome; likewise, if most neurons activate the X chromosome with the mutated MECP2 allele, the individual will have very severe Rett syndrome just as males with MECP2 mutations do (as they only have one X chromosome). In those species in which sex is determined by the presence of the Y or W chromosome rather than the diploidy of the X or Z, a Barr body is the inactive X chromosome in a female cell, or the inactive Z in a male. ...

Development and symptoms

Infants with Rett syndrome typically develop normally until they are 6-18 months old. Neurological development tends to plateau after this brief period of normal development, and is followed by regression of previously acquired skills. Early features are similar to those of autism. It is, hence, easy to mistakenly diagnose Rett syndrome for autism. Autism is a brain development disorder characterized by impairments in social interaction and communication, and restricted and repetitive behavior, all exhibited before a child is three years old. ...

Symptoms of Rett syndrome that are also present in cerebral palsy (regression of the type seen in Rett syndrome would be unusual in cerebral palsy; this confusion should rarely be made): Panic attacks are sudden, discrete periods of intense anxiety, fear and discomfort that are associated with a variety of somatic and cognitive symptoms[1]. The onset of these episodes is typically abrupt, and may have no obvious trigger. ... Cerebral palsy (CP) is an umbrella term encompassing a group of non-progressive,[1] non-contagious conditions that cause physical disability in human development. ...

Symptoms may stabilize for many decades, particularly for interaction and cognitive function such as making choices. Anti-social behavior may change to highly social behavior. Motor functions may slow as rigidity and dystonia appear. Seizures may be problematic, with a wide range of severity. Scoliosis occurs in most and requires corrective surgery in about 10%. Those who remain ambulatory tend to have less progression of scoliosis. Percentage of population affected by malnutrition by country, according to United Nations statistics. ... Dysphagia () is a medical term defined as difficulty swallowing. ... Hypotonia is a condition of abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. ... For other uses, see Ataxia (disambiguation). ... Spasticity is a disorder of the bodys motor system,and especially the Central Nervous Systems (CNS), in which certain muscles are continuously contracted. ... // Chorea sancti viti (Latin for St. ... Dystonia is a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. ... A profile of a smile, exhibiting significant wear, especially on the maxillary incisors. ... Dystonia is a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. ...

Treatment and prognosis

Currently there is no cure for Rett syndrome, although there has been some promising results with gene therapy in mice.^[5] Image File history File links This is a lossless scalable vector image. ...

Constipation or irregularity, is a condition of the digestive system where a person (or animal) experiences hard feces that are difficult to egest; it may be extremely painful, and in severe cases (fecal impaction) lead to symptoms of bowel obstruction. ... The long QT syndrome (LQTS) is a heart disease in which there is an abnormally long delay between the electrical excitation (or depolarization) and relaxation (repolarization) of the ventricles of the heart. ... SSRI is an acronym that stands for several things: It is a class of antidepressants called selective serotonin reuptake inhibitor SSRI also is used as the stock symbol for Silver Standard Resources Inc. ... The term antipsychotic is applied to a group of drugs used to treat psychosis. ... Beta blockers or beta-adrenergic blocking agents are a class of drugs used to treat a variety of cardiovascular conditions and some other diseases. ... The long QT syndrome (LQTS) is a heart disease in which there is an abnormally long delay between the electrical excitation (or depolarization) and relaxation (repolarization) of the ventricles of the heart. ...

Mortality

Males with pathogenic MECP2 mutations usually die within the first 2 years from severe encephalopathy, unless they have an extra X chromosome (often described as Klinefelter syndrome), or have somatic mosaicism. Encephalopathy literally means disease of the brain. ... XXY karyotype Klinefelters syndrome is a condition caused by a chromosome abnormality in males (specifically, a nondisjunction); sufferers have a pair of X sex chromosomes instead of just one. ... In medicine (genetics), a mosaic or mosaicism denotes the presence of two populations of cells with different genotypes in one patient, where usually one of the two is affected by a genetic disorder. ...

Females can live up to 40 years or more. Lab studies on Rett syndrome may show abnormalities such as:

A high proportion of deaths are abrupt, but most have no identifiable cause; in some instances death is the result most likely of: EEG redirects here. ... Glycolipids are carbohydrate-attached lipids. ... For other uses, see Endorphin (disambiguation). ... Glutamate is the anion of glutamic acid. ... In neuroscience, Substance P is a neuropeptide: a short-chain polypeptide that functions as a neurotransmitter and as a neuromodulator. ...

This article is about the medical condition. ... ECG may also refer to the East Coast Greenway Lead II An Electrocardiogram (ECG or EKG, abbreviated from the German Elektrokardiogramm) is a graphic produced by an electrocardiograph, which records the electrical voltage in the heart in the form of a continuous strip graph. ...

Further reading

A digital object identifier (or DOI) is a standard for persistently identifying a piece of intellectual property on a digital network and associating it with related data, the metadata, in a structured extensible way. ...

External links

The National Institute of Neurological Disorders and Stroke is a part of the U.S. National Institutes of Health. ... The autism spectrum, also called autism spectrum disorders (ASD) or autism spectrum conditions (ASC), with the word autistic sometimes replacing autism, is a spectrum of psychological conditions characterized by widespread abnormalities of social interactions and communication, as well as severely restricted interests and highly repetitive behavior. ... There are many comorbid disorders associated with autism spectrum disorders and Aspergers Syndrome. ... The heritability of autism is debated by psychology researchers, parents of children diagnosed with autism, and members of the autistic community. ... Autism (also called autistic disorder, infantile autism, Kanners syndrome or Kanner syndrome) is a neurodevelopmental disorder that manifests itself before the age of three years. ... It has been suggested that this article or section be merged with Biomedical intervention for autism. ... Asperger syndrome (also Aspergers syndrome, Aspergers disorder, Aspergers, or AS) is one of several autism spectrum disorders (ASD) characterized by difficulties in social interaction and by restricted and stereotyped interests and activities. ... Autism is a brain development disorder characterized by impairments in social interaction and communication, and restricted and repetitive behavior, all exhibited before a child is three years old. ... Childhood disintegrative disorder (CDD), also known as Hellers syndrome and disintegrative psychosis, is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills. ... Fragile X syndrome is a syndrome of X-linked mental retardation. ... Multiple-complex Developmental Disorder (McDD) represents a distinct group within the autistic spectrum based on symptomatology. ... PDD not otherwise specified or PDD-NOS is a pervasive developmental disorder. ... The introduction to this article provides insufficient context for those unfamiliar with the subject matter. ... There is considerable disagreement over the exact nature of autism, however it is generally considered to be a neurodevelopmental condition which manifests itself in markedly abnormal social interaction, communication ability, patterns of interests, and patterns of behavior. ... This box: The autism rights movement (which has also been called autistic self-advocacy movement [1] and autistic liberation movement [2]) was started by adult autistic individuals in order to advocate and demand tolerance for what they refer to as neurodiversity. ... 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Following US government action to evaluate levels of environmental toxins, including mercury, it has been claimed, particularly in the context of lawsuits, that thimerosal in childhood vaccines could contribute to, or cause, a range of neurodevelopmental disorders in children, most notably autism and related Pervasive Developmental Disorders (PDDs), or other... This is a list of autism-related topics. ... Fictional characters described by the authors as having conditions on the autistic spectrum. ... Further reading on the topic of Asperger syndrome: [Attwood, Tony]; foreword by Lorna Wing (1998). ... This is a list of noteworthy people known to have a condition on the autism spectrum. ... A number of famous people have been speculated by reputable sources to have had autistic disorder or Asperger syndrome. ... Infinity logo as a positive representation of autism Aspies For Freedom is a group which is at the forefront of the autism rights movement. ... 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Oppositional defiant disorder is a controversial psychiatric category listed in the Diagnostic and Statistical Manual of Mental Disorders where it is described as an ongoing pattern of disobedient, hostile, and defiant behavior toward authority figures that goes beyond the bounds of normal childhood behavior. ... Separation Anxiety redirects here. ... Selective mutism is a social anxiety disorder in which a person who is normally capable of speech is unable to speak in given situations. ... It has been suggested that this article or section be merged with Attachment disorder. ... A tic is a repeated, impulsive action, almost reflexive in nature, which the actor feels powerless to control or avoid. ... â€œTouretteâ€ redirects here. ... Speech disorders or speech impediments, as they are also called, are a type of communication disorders where normal speech is disrupted. ... â€œStutterâ€ redirects here. ... 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