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1 The disturbance must not be better accounted for by Rett syndrome, intellectual disability or global developmental delay.
2 The grouping of disorders, including PDD-NOS, autism, Asperger syndrome, Rett syndrome, and CDD, has been removed and replaced with the general term of Autism Spectrum Disorders.
3 The deletion of the subsets of autistic spectrum disorder—namely, Asperger's syndrome, classic autism, Rett syndrome, childhood disintegrative disorder and pervasive developmental disorder not otherwise specified—was also implemented, with specifiers regarding intensity: mild, moderate, and severe.
4 Some X-linked dominant conditions, such as Rett syndrome, incontinentia pigmenti type 2, and Aicardi syndrome, are usually fatal in males either in utero or shortly after birth, and are therefore predominantly seen in females.
5 In 2000, Roberts narrated Silent Angels, a documentary about Rett syndrome, a neurodevelopmental disorder.
6 A third daughter, Katherine, was born in 1253 but soon fell ill, possibly the result of a degenerative disorder such as Rett syndrome, and was unable to speak.
7 BDNF is downregulated in the MECP2 mutant resulting in Rett syndrome, as well as the increase of early neural senescence and accumulation of damaged DNA.
8 Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems.
9 There is no known cure for Rett syndrome.
10 It was first described by Austrian pediatrician Andreas Rett in 1966.
11 The signs and symptoms of the typical form of the Rett syndrome are well described.
12 In addition to the classical form of Rett syndrome, several atypical forms have been described over the years;
13 the main groups are: The definition itself of the Rett syndrome has been refined over the years: as the atypical forms subsist near to the classical form (Hagberg &
14 Genetically, Rett syndrome (RTT) is caused by mutations in the gene MECP2 located on the X chromosome (which is involved in transcriptional silencing and epigenetic regulation of methylated DNA), and can arise sporadically or from germline mutations.
15 In less than 10% of RTT cases, mutations in the genes CDKL5 or FOXG1 have also been found to resemble it. Rett syndrome is initially diagnosed by clinical observation, but the diagnosis is definitive when there is a genetic defect in the MECP2 gene.
16 It has been argued that Rett syndrome is in fact a neurodevelopmental condition as opposed to a neurodegenerative condition.
17 One piece of evidence for this is that mice with induced Rett Syndrome show no neuronal death, and some studies have suggested that their phenotypes can be partially rescued by adding functional MECP2 gene back when they are adults.
18 In at least 95% of Rett syndrome cases, the cause is a de novo mutation in the child.
19 Brain levels of norepinephrine are lower in people with Rett syndrome (reviewed in).
20 Researchers have concluded that "Because these neurons are a pivotal source of norepinephrine throughout the brainstem and forebrain and are involved in the regulation of diverse functions disrupted in Rett syndrome, such as respiration and cognition, we hypothesize that the locus coeruleus is a critical site at which loss of MECP2 results in CNS dysfunction."
21 The restoration of normal locus coeruleus function may therefore be of potential therapeutic value in the treatment of Rett syndrome.
22 An interactive pathway map of Rett syndrome has been published.
23 Prior to the discovery of a genetic cause, Rett syndrome had been designated as a pervasive developmental disorder by the Diagnostic and Statistical Manual of Mental Disorders (DSM), together with the autism spectrum disorders.
24 Ruling in Ruling out Supportive criteria Signs of Rett syndrome that are similar to autism: Signs of Rett syndrome that are also present in cerebral palsy (regression of the type seen in Rett syndrome would be unusual in cerebral palsy;
25 this confusion could rarely be made): Currently there is no cure for Rett syndrome.
26 Treatment of Rett syndrome includes: Because of the increased risk of sudden cardiac death, when long QT syndrome is found on an annual screening EKG it is treated with an anti-arrhythmic such as a beta-blocker.
27 Research shows that males with Rett syndrome may result from Klinefelter's syndrome, in which the male has an XXY karyotype.
28 There have, however, been several cases of 46,XY karyotype males with a MECP2 mutation (associated with classical Rett syndrome in females) carried to term, who were affected by neonatal encephalopathy and died before 2 years of age.
29 The incidence of Rett syndrome in males is unknown, partly owing to the low survival of male fetuses with the Rett syndrome-associated MECP2 mutations, and partly to differences between signs caused by MECP2 mutations and those caused by Rett's. Females can live up to 40 years or more.
30 Laboratory studies on Rett syndrome may show abnormalities such as: A high proportion of deaths are abrupt, but most have no identifiable cause;