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Query: UMLS:C0004352 (autism)
 32,579 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical and EEG findings have been analysed in six patients with Rett syndrome with a mean follow-up of 3 years and 9 months. After reviewing the diagnostic criteria for inclusion, which are essentially clinical, we emphasize two aspects which have been shortly considered in the literature: a) epileptic seizures, b) peculiar differential characteristics between primary autism and the Rett syndrome behaviour. Moreover, we underline the importance of serial EEG poligraphic records for early diagnosis.
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PMID:[Rett syndrome: clinical aspects and EEG for an early diagnostic assessment]. 324 39

Rett syndrome is a progressive encephalopathy observed only in girls, who are apparently normal until 6 to 12 months of age. It is characterized by autism, dementia, ataxia, stereotypic hand movements, hyperreflexia, spasticity, and seizures. Eight of 10 females with Rett syndrome evaluated at the Alfred I. duPont Institute have C-shaped neuromuscular curves averaging 29 degrees (range 22-48 degrees). Curve progression was seen in all eight patients and occurred despite bracing in four, averaging 21 degrees (range 12-31 degrees). Five patients, two of whom were braced, have undergone posterior spinal fusion with segmental instrumentation for curves ranging in size from 49 to 105 degrees (average 67 degrees).
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PMID:Scoliosis in Rett syndrome. 335 Sep 46

We studied 7 children with Rett Syndrome, characterized by behavioral and motor abnormalities which superficially resemble infantile autism, and reviewed the records of 4 adults with the same symptoms. Clinical details are discussed. No abnormalities were found in analyses of amino acids and biogenic amine metabolites. EEG showed a clear pattern of chronological deterioration, with the pattern of marked waking/sleep background contrast appearing consistently only after 5 years of age. There was also a high incidence of spike discharges in the central (Rolandic) region. The clinical pattern of Rett Syndrome should be differentiated from the syndrome of autism.
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PMID:Rett syndrome: clinical profile and EEG abnormalities. 340 9

Reactions to acoustic, visual, tactile and gustatory stimuli and to social contact were recorded in a group of girls with the Rett syndrome and in two groups of girls fulfilling the criteria for the infantile autistic syndrome. The autistic syndrome was not found in several subjects in all the Rett syndrome age groups and, when it was found, it was not of the same form as in the other subject groups. It was concluded that the behavioral syndrome of autism is of little value for differential diagnosis between the Rett syndrome and primary infantile autism.
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PMID:Autistic traits in the Rett syndrome. 343 25

Eight mothers of eight young Rett syndrome girls were interviewed in respect of early symptoms in the child. A questionnaire originally developed to tap early symptoms in infantile autism was used. Considerable overlap between early symptoms in Rett syndrome and infantile autism was seen, although clear differentiating features might be present already in the first few years of life.
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PMID:Autistic symptoms in Rett syndrome: the first two years according to mother reports. 343 26

We report on a 13 years old girl with Rett syndrome (autism, dementia, ataxia and loss of purposeful hand use in girls). The Rett syndrome is unexpectedly frequent (1:15,000 in 1-14 years old girls). The diagnosis is based solely upon clinical development observation. Typical false diagnoses are: autism, some types of epilepsia, deprivation, cerebral palsy, degenerative encephalopathy, infantile psychosis and types of ataxia. The etiology is unknown, genetic factors, possibly an X-linked dominant new mutation, explain many, but not all findings. The empiric recurrence-risk is apparently low.
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PMID:[Rett syndrome--case report]. 365 39

Chromosomes from 46 autistic, 20 psychotic and 15 Rett syndrome children were cultured in a folic-acid-depleted medium. Nine percent of the autistic, 20% of the psychotic and 40% of the Rett syndrome cases showed a "new" chromosomal anomaly, viz a fragile site at the (X) (p22) location. It is suggested that in some cases of autism/psychosis and the Rett syndrome, there might be a common biological marker for the common type of psychiatric disturbance. However, as the population frequency of the chromosome marker is not yet known, conclusions must be drawn with great caution.
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PMID:A "new" chromosome marker common to the Rett syndrome and infantile autism? The frequency of fragile sites at X p22 in 81 children with infantile autism, childhood psychosis and the Rett syndrome. 386 86

The behavior of girls with the Rett syndrome was compared to that of patients with infantile autism (Kanner syndrome) and with autism associated with infantile organic brain damage. Visual, acoustic, tactile and gustatory stimuli, and social contact were used. Motor stereotypes and disturbances were recorded and the mental development was categorized. Behavioral traits were classified into 4 groups: Behavior observed only in the Rett syndrome (at least optionally), Behavior observed in each case of the Rett syndrome (at most optionally in the autistic syndrome), Behavior observed only in the autistic syndrome (at least optionally), Behavior observed in each case of the autistic syndrome (at most optionally in the Rett syndrome). These traits were adequate criteria for differential diagnosis. It was concluded that the Rett syndrome is characterized by definite signs of dementia with almost overall developmental retardation and that it does not show several attributes regularly found in autistic children. A neuropsychological theory was proposed to explain the coming about of specific autistic behavior.
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PMID:Behavioral observations concerning differential diagnosis between the Rett syndrome and autism. 406 59

The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological signs such as ataxia, myoclonus and hyperreflexia. Normal head circumference at birth, but subsequent subnormal growth. EEG abnormalities. Slow progression of the disease after the period of rapid deterioration. The constellation of the signs and symptoms, and the occurrence only in girls, make this clinical picture quite distinct. There is no definitely known biochemical or chromosomal abnormality. The psychological profile, though homogeneous in all the patients, is not pathognomonic, and a very similar behavioral pattern can be observed in other organic brain syndromes.
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PMID:Rett syndrome: report of eight cases. 406 60

The main clinical features of 20 girls affected by the Rett syndrome are described and for 3 of them more detailed case reports are given. Fifteen of these girls were observed for the first time between October 1983 and February 1985. In the same period 25 other girls with the complete features of infantile autism were also seen for the first time. The marked loneliness with gaze and hearing avoidance and the speech abnormality of girls with the Rett syndrome are also discussed.
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PMID:Rett syndrome: a significant proportion of girls affected by autistic behavior. 406 63


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