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

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

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

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

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


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