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

Representative case histories are presented to illustrate the typical clinical features of autistic psychopathy. These patients showed several clinical features compatible with organic encephalopathy. Physical signs suggesting the presence of an underlying cerebral dysgenesis were particularly frequent. These patients superficially resembled schizophrenics but differed in their delayed and peculiar intellectual development, the response of their behavior to external stimuli, and their frequent and severe motoric defects. From these observations and a review of the pertinent literature, we conclude that the patients described in this report have an organic deficiency of brain function, determined congenitally or in the early postnatal period.
J Autism Child Schizophr 1975 Jun
PMID:On the organic nature of some forms of schizoid or autistic psychopathy. 117 23

Rett syndrome consists of a progressive encephalopathy and psychomotor deterioration in young females who have appeared clinically normal until between six and eighteen months of age. The syndrome has incidence similar to that of phenylketonuria and autism in females. It has been widely recognised only since 1983. After six months of age head growth decelerates associated eventually with severe dementia, and autism, apraxia, stereotypic "hand washing" movements and loss of previously acquired skills occurs. Supportive symptoms may include breathing dysfunction, seizures, EEG abnormalities, and growth retardation. Occurrence indicates sporadic new mutations as a cause. The case histories of two patients diagnosed in New Zealand are described.
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PMID:Rett syndrome: case reports and review. 218 54

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

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

Determination of monoamine metabolites was accomplished in the spinal fluid of 22 psychotic children and in 22 sex- and almost-age-matched "normal" controls. Also, specimens from groups of mentally retarded children and children with progressive encephalopathy or meningitis were used for comparison. The psychotic children showed raised levels of homovanillic acid. Thirteen children diagnosed as autistic by Rutter's criteria showed isolated increase of this metabolite. In the group of 9 children with other psychoses, both the level of homovanillic acid and that of 5-hydroxy-indoleacetic acid was raised. The comparison with the group of "simply" mentally retarded children and results within the psychotic group revealed that the increased concentration of monoamines was not attributable to mental retardation per se.
J Autism Dev Disord 1983 Dec
PMID:Childhood psychosis and monoamine metabolites in spinal fluid. 619 18

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

In an attempt to clarify issues of brainstem dysfunction and hearing thresholds in autistic children, we studied the Auditory Brainstem Responses (ABRs) in 32 children who clearly fit within the criteria of autism established by the National Society for Autistic Children (1977). ABRs were recorded between Cz and ipsilateral ear in response to click stimuli. Interwave latencies and auditory threshold in each ear were determined. Of the 32 children, 11 had moderate hearing loss (8 bilaterally) and 3 had severe to profound hearing loss, all bilaterally. 8 of the 14 with hearing loss also had associated features (e.g., perinatal encephalopathy). The I-III and I-V interwave latencies were significantly longer in the autistic children compared to normal control children; the increased conduction times were found mainly in the early portion of the auditory brainstem pathway. These data confirm some earlier reports of ABR abnormalities in autistic children and are concordant with some theories of the etiological basis of autism. The high incidence of hearing loss in these children is significant and routine ABR testing is recommended.
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PMID:Auditory brainstem response abnormalities in autistic children. 715 Oct 27

Epileptic seizures are frequently reported (4-32%) in autism. These values are higher than in the normal population of children and adolescents (0.5%). In the literature there is no uniform description of epilepsy in autism. We examined 106 patients with autistic disorder divided into three groups on the basis of presence or absence of EEG paroxysmal abnormalities (PA) and / or epilepsy including febrile convulsions (FG). Our patients presented an autistic syndrome unrelated to clear congenital or acquired encephalopathy. The prevalence of epilepsy and EEG PA was 23.6% and 18.9%, respectively. Significant differences between the three groups appeared for (i) familial antecedents for epilepsy / FC and neurologic and psychiatric diseases (P < 0.004), (ii) a different proportion between the three groups for mental retardation (P < 0.03), (iii) and EEG fast activity (P < 0.04). Our patients showed several types of epilepsy, including idiopathic forms with seizure onset after the age of 10 in 45% of cases. Seizures were mainly partial, not frequent and controllable by anti-epileptic drugs. PA were mostly focal and multifocal and in 45% of cases were typical of benign childhood partial epilepsy with centro-temporal spikes. The higher incidence of epilepsy and EEG PA is apparently not related to organic pre-, peri- and postnatal antecedents or cerebral lesions. On the contrary, genetic factors responsible for autism and epilepsy seem important in the genesis of these two disorders.
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PMID:EEG features and epilepsy in patients with autism. 857 26

Developed a Q-sort procedure to assess social, emotional, and motivational behavior associated with central nervous system disease among 180 HIV-infected pediatric patients. These ratings were factor analyzed and scales were derived based on the factor structure. Younger (M age = 1.03 years) patients with HIV-associated encephalopathy were rated as more apathetic and nonsocial in their behavior than nonencephalopathic younger patients. Older (M age = 7.8 years) encephalopathic patients had significantly higher scores on scales measuring depression, autism, and irritability compared to nonencephalopathic patients from this age group. A subgroup (26 patients) showed a significant decrease in these elevated scores after a 6-month course of AZT.
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PMID:The development of a Q-sort behavioral rating procedure for pediatric HIV patients. 815 93


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