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 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is a case report of the Rett syndrome in a girl with normal general and psychomotor development during the first 12 mos. Afterwards developmental stagnation and retrogression appeared which led within one yr to dementia, autism, loss of purposeful hand use, truncal ataxia and apraxia of gait. Characteristic stereotypic movements of the hands occurred, and, furthermore, rhythmic truncal balancing and episodic hyperpnea. At 2 yrs, neurological examination showed slight hypertonia and hyperreflexia of the legs without extensor plantar signs, there was relative microcephaly, and visceral examination was normal. The diagnosis was made on the basis of clinical signs: all laboratory investigations were negative except EEG which showed unspecific modifications. We didn't find hyperammonemia. No progression of the symptoms appeared in the 15 mos following the diagnosis.
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PMID:A case of the Rett syndrome. 406 64

In this paper we report the cases of two girls affected by a progressive encephalopathy. Both stories are similar. After a normal development in the first year of life, neurological regression occurred since the beginning of the second year. This progressive syndrome led within a few months to a loss of any verbal acquisition, loss of purposeful use of the hands, dementia, autism. Other neurological alterations occurred in the following years: piramidal signs at lower limbs, generalized and partial seizures, ataxia, gait apraxia. All laboratory findings were normal in both girls. The EEG was abnormal in both patients and the patterns were quite the same in following records of both girls. The disease occurred in our patients is quite certainly the same described by Rett for the first time in 1966.
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PMID:[Rett syndrome. Review of the literature and presentation of 2 clinical cases]. 408 13

Thirty-five patients, exclusively girls, from three countries had a uniform and striking progressive encephalopathy. After normal general and psychomotor development up to the age of 7 to 18 months, developmental stagnation occurred, followed by rapid deterioration of higher brain functions. Within one-and-a-half years this deterioration led to severe dementia, autism, loss of purposeful use of the hands, jerky truncal ataxia, and acquired microcephaly. The destructive stage was followed by apparent stability lasting through decades. Additional insidious neurological abnormalities supervened, mainly spastic parapareses, vasomotor disturbances of the lower limbs, and epilepsy. Prior extensive laboratory investigations have not revealed the cause. The condition is similar to a virtually overlooked syndrome described by Rett in the German literature. The exclusive involvement of females, correlated with findings in family data analyses, suggests a dominant mutation on one X chromosome that results in affected girls and nonviable male hemizygous conceptuses.
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PMID:A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. 663 58

Rett syndrome (RS) is a progressive neurological disorder of females, characterized by the early onset of autistic behavior, ataxia, and "handwringing" movements. The present magnetic resonance imaging study was undertaken with the purpose of investigating whether structural brain abnormalities of RS patients are similar to those recently reported in autism. The subject population consisted of eight patients and an equal number of age- and sex-matched controls. Area and shape measurements were taken at selected anatomical levels for the following structures: brain hemisphere, corpus callosum, midbrain, pons, lobules I-V and VI-VII of the cerebellum, and head of the caudate. Results revealed significant differences in area for the whole brain hemisphere (p < 0.05) and in both right and left caudate (p < 0.04). These morphological findings are different from those recently reported in autism and emphasize the involvement of the striatal system in RS.
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PMID:Quantitative magnetic resonance imaging in Rett syndrome. 758 Jan 76

We report in this paper pervasive developmental disorders. They represent a rather numerous group of severe psychic diseases of early childhood, of unknown etiology. All psychic functions are disturbed: thinking, emotions and mental functioning. Different classifications of these disorders include various terms for similar clinical conditions. So, there is a dilemma whether it is a case of special nosologic entities or different clinical conditions of the same disorder. Infantile autism, Asperger syndrome, Rett syndrome and atypical psychosis are described. Although prognosis is commonly unfavourable, therapy may be very helpful.
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PMID:[Global developmental disorders--etiology and classification dilemmas]. 785 2

Clinical, pathopsychological and neurophysiological studies have been carried out in 85 children with infantile autistic psychosis and in 38 girls with Rett's syndrome. New improved differential diagnostic criteria between these two forms of early childhood autism have been suggested. EEG spectral density values in alpha-1, alpha-2, beta and theta subbands are established to be their neurophysiological markers. Special attention was paid to close relationship between ontogenetic neuromorphogenesis of the brain cortical structures (e.g. physiological lysis of cortical cell populations at the age 8-30 months of the child's life) and the defect severity in the onset of illness at the same age range in patients with the studied forms of early childhood autism. The data obtained are discussed in terms of new approaches to understanding pathogenesis of different forms of early childhood autism.
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PMID:[The clinical, neurophysiological and differential diagnostic aspects in a study of severe forms of early childhood autism]. 785 86

To investigate pediatric brain impairment, beta-endorphin levels, one of the opioid peptides that modulate human high cortical functions, were measured in cerebrospinal fluid (CSF). The study included 19 patients with infantile autism, 3 patients with Rett syndrome, 6 patients with infantile spasms, 16 patients with aseptic meningitis, and 23 age-matched controls. In the control group, the CSF beta-endorphin concentrations were negatively correlated with increasing age. There was no correlation between body temperature and the levels, and no significant difference in the levels according to sex. In infantile autism, the CSF level was not significantly different from that in controls. In Rett syndrome, it was significantly higher, while in infantile spasms it was lower than in controls. In aseptic meningitis, the CSF beta-endorphin level was significantly higher than in controls. The alterations in CSF beta-endorphin levels may play a role in these neurologic disorders and/or in central nervous system (CNS) infections.
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PMID:CSF beta-endorphin levels in pediatric neurologic disorders. 800 32

Peripheral blood lymphocytes from 17 patients with autism were separated on a Ficoll-Hypaque density gradient. Patients had normal numbers of T and B cells and T cell subsets. Although CD4:CD8 ratios were normal for the whole group (2.09 +/- 0.97), 6 patients had elevated ratios (> 2.2) and 5 had decreased ratios (< 1.5). Mitogen-induced proliferation (concanavalin-A and phytohemagglutinin) was normal as was the autologous mixed lymphocyte reaction for the whole group. There was an abnormally increased percentage of DR+ (activated) T lymphocytes in 11 patients. With increasing age percentage of DR+ lymphocytes decreased. No patient had interleukin-2 (IL-2) receptor+ cells. Similar investigations performed on blood samples from 8 girls with Rett syndrome produced normal results. 11 of 17 autistic patients had an abnormally increased percentage of DR+ but not IL-2 receptor+ lymphocytes suggesting 'incomplete' activation, a finding which is seen in autoimmune diseases. The decrease in activated cells with increasing age suggests that there may be an autoimmune process which is more active earlier in life in a subset of autistics.
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PMID:Lymphocyte function in autism and Rett syndrome. 812 18

Ritanserine had a positive effect on children with Rett's syndrome and children with autistic syndrome and mental retardation. The most marked effect was observed in reduction of psychomotor instability, impaired concentration of attention and partly also in autism.
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PMID:[Ritanserin in autistic children]. 840 27

Operant and biological theories of the cause of self-injurious behavior (SIB) in people with a mental handicap are often viewed as mutually exclusive. In this single case study, interactions between features of Rett syndrome and operant conditioning as determinants of SIB are examined. Functional analysis by analog methodology indicated different functions for two forms of SIB shown by the subject: automatic reinforcement by sensory stimulation and escape from social interactions. It is suggested that features of Rett syndrome established conditions under which operant conditioning of self-injurious responding was maximized. The implications of this interaction between features of syndromes and operant conditioning for the conceptualization of the cause of SIB are discussed and it is proposed that the notion of a unitary cause of SIB is inappropriate. It is more productive to consider operant conditioning as the process that maintains responding against a background of predisposing and mediating factors which may be biologically determined.
J Autism Dev Disord 1993 Mar
PMID:Self-injurious behavior in Rett syndrome: interactions between features of Rett syndrome and operant conditioning. 846 4


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