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

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 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

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

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

302 mentally retarded adults, sampled by epidemiological criteria, were examined with regard to handicaps, behaviour, skills and psychopathology by use of the MRC HBS-schedule and a list of psychiatric items. Based on research criteria, a computerized psychiatric diagnosis was made on a hierarchial scale. A psychiatric disorder was diagnosed in 85 (27.1%), which is a smaller prevalence rate than found in other studies. Next to behaviour disorder (10.9%), psychosis of uncertain type (5%) was the most common disorder. Dementia and early childhood autism were found equally often (3.6% each). Neurosis was seldom (2%), while schizophrenia (1.3%) and affective disorder (1.7%) occurred at about the same rates as found in similar investigations. No cases of alcohol or drug abuse were found.
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PMID:The prevalence of psychiatric morbidity in mentally retarded adults. 408 61

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

This paper recapitulates the research conducted in recent years, including the results of the first stage of research presented in 1988. The research is characterized by meticulous preparation of 8 scales which enables us to observe the formation of 4 fundamental proportions. Of vital importance for the interpretation of the results are correlations among the proportions and among scales. Explicit correlation (r = 0.69) between the syntonic-autistic proportion and that of "vitality and emotional adequacy--emotional dementia" was recorded. This observation is of great significance in isolating paranoid schizophrenia subgroups. Emotional dementia is also significant (r = 0.64) in cases characterized by profound autism. Thus, syntony is not only a quality which strongly correlates negatively with autism (r = 0.79) but above all there exists a high positive correlation between syntony and emotional vitality (r = 0.58). Not included here is a discussion on complex relationships between syntonic-autistic proportion and the one of "insight vs lack of insight". The obtained results confirm the correctness of earlier hypothesis and correlate with the results of the research on the formation of syntonic-autistic proportion. In other words, they verify a hypothesis which makes us isolate autistic and syntonic schizophrenias within paranoid schizophrenia.
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PMID:[Formation of fundamental psychopathological proportions in autistic and syntonic schizophrenias]. 841 98

The two most consistent features of the diseases caused by trinucleotide repeat expansion-neuropsychiatric symptoms and the phenomenon of genetic anticipation-may be present in forms of dementia, hereditary ataxia, Parkinsonism, bipolar affective disorder, schizophrenia and autism. To identify candidate genes for these disorders, we have screened human brain cDNA libraries for the presence of gene fragments containing polymorphic trinucleotide repeats. Here we report the cDNA cloning of CAGR1, originally detected in a retinal cDNA library. The 2743 bp cDNA contains a 1077 bp open reading frame encoding 359 amino acids. This amino acid sequence is homologous (56% amino acid identify and 81% amino acid conservation) to the Caenorhabditis elegans cell fate-determining protein mab-21. CAGR1 is expressed in several human tissues, most prominently in the cerebellum, as a message of approximately 3.0 kb. The gene was mapped to 13q13, just telomeric to D13S220. A 5'-untranslated CAG trinucleotide repeat is highly polymorphic, with repeat length ranging from six to 31 triplets and a heterozygosity of 87-88% in 684 chromosomes from several human populations. One allele from an individual with an atypical movement disorder and bipolar affective disorder type II contains 46 triplets, 15 triplets longer than any other allele detected. Though insufficient data are available to link the long repeat to this clinical phenotype, an expansion mutation of the CAGR1 repeat can be considered a candidate for the etiology of disorders with anticipation or developmental abnormalities, and particularly any such disorders linked to chromosome 13.
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PMID:cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat. 873 27


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