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

Sixty families ascertained through a single proband, has helped to better define infantile autism as a heterogeneous group of disorders. Forty four patients showed a characteristic facio- auricular dysplasia. Twenty four of these, showed increased pyruvate and lactate and laboratory findings of metabolic acidosis i.e., anion gap above 18 mEq/L or serum bicarbonate below 21 mEq/L but only nine of these probands demonstrated reduction of plasma bicarbonate below 18 mEq/lt. Plasma amino acids in 17 probands and matched controls showed increased taurine with the rest of amino acids significantly (p less than 0.05) below the control level. Glutamate and aspartate were also significantly elevated (p less than 0.05; Student t-test). Segregation analysis in thirty four of these families which linked through at least one ancestral family name, suggested autosomal recessive inheritance (p = 0.20). Three out of eight probands who received megadoses of pyridoxine (Vitamin B6), subjectively gained in language abilities, affectivity and response to behavior modification therapy. Five autistic patients proved to have clinically defined syndromes: two with the Martin-Bell syndrome, and three girls affected respectively with the Rett syndrome, phenylketonuria and dicarboxylic aciduria.
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PMID:[Clinical heterogeneity of the autistic syndrome: a study of 60 families]. 139 Oct 74

The author reviews the issue on whether Rett syndrome (RS) is a subtype of pervasive developmental disorders (PDDs). More than 200 articles of RS have been published in the last 10 years. Internal and external validities of RS have been established by several independent studies. There remains the question whether RS presents clinical features that meet the total criteria for PDDs. The available data seem to support the idea of classifying RS as a subtype of PDDs in the DSM-IV.
J Autism Dev Disord 1992 Dec
PMID:Is Rett syndrome a subtype of pervasive developmental disorders? 148 76

Fifty-nine cases with infantile autism/autistic disorder were subclassified according to associated medical condition (fragile-X, tuberous sclerosis, neurofibromatosis, hypo-melanosis of Ito, Moebius syndrome, Rett syndrome, and a 'new' syndrome associated with a marker chromosome). It was concluded that, even within a group of cases fitting currently accepted criteria for autism, there is considerable variation in symptom profile depending on the exact type of associated medical condition.
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PMID:Subgroups in autism: are there behavioural phenotypes typical of underlying medical conditions? 162 12

Investigated 6 girls with Rett syndrome (RS), ages between 2 and 13 years, to provide comprehensive descriptions of their communicative behaviors. Previous studies have not focused on communicative competence nor on the intentionality of the language used by children with RS. This study concluded that all members of the group investigated were at a preintentional level of communication. Intentional communication has previously been reported to develop in normally developing and intellectually disabled children attaining Piagetian Sensorimotor Stage V in Means-End behavior. The present study also investigated the cognitive performance of the group. We concluded that the preintentional level of communication noted was consistent with the subjects' profound intellectual disability. No Means-End (i.e., purposeful) behavior beyond Piagetian Sensorimotor Stage III could be elicited from the 6 girls. The relevance of this study for therapeutic intervention is discussed.
J Autism Dev Disord 1992 Jun
PMID:Communication abilities and Rett syndrome. 162 3

Mothers and fathers of 29 girls with Rett syndrome provided data about their levels of parenting stress, marital adjustment, and family functioning. Their scores were compared to normative and clinical samples. The parents of girls with Rett syndrome reported more stress, lower marital satisfaction, and certain adaptations in family functioning compared to norms. However, most parents scored in the normal range on most measures and their scores were not related to SES. There was little relationship between specific characteristics of the daughter with Rett syndrome, such as her age and level of functioning, and her parents' scores on these measures. There were few significant differences between mothers' and fathers' scores. Results are discussed in terms of patterns of family adaptation and coping. Clinical implications are also discussed.
J Autism Dev Disord 1992 Jun
PMID:Stress and family functioning in parents of girls with Rett syndrome. 162 7

The features of sleep parameters in the Rett syndrome were compared with those in early infantile autism (EIA) and hereditary progressive dystonia with marked diurnal fluctuation (HPD). The sleep-wakefulness cycle and the tonic and phasic components of sleep were evaluated in each disorder, the former was estimated by the day-by-day plot method and the latter two by polysomnography (PSG) following our method. Abnormalities of the sleep-wakefulness cycle were observed in the Rett syndrome and EIA, but in the latter these abnormalities became inapparent with age and improved markedly by correcting the environmental condition and completely by 5-hydroxytriptophan. The latter, if treated early, was followed by improvement of behavior. In the Rett syndrome, however, the abnormalities continued into late childhood to adolescence. In HPD, PSG abnormalities were restricted to the phasic component, which improved completely after levodopa in accordance with the clinical improvement. On the other hand, in the Rett syndrome as well as in EIA both the phasic and tonic components were involved and also the leakage of the components of REM stage into NREM stage was observed. In the Rett syndrome, these abnormalities aggravated with age, with disturbances in % sleep stage, nocturnal variation of tonic and phasic components of sleep and REM-NREM cycles, while in EIA the results of PSGs revealed no such progressions but showed an increase in twitch movement and a lack of normal increase in the number of REMs occurring in short intervals.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Polysomnography in the Rett syndrome. 162 34

The neuropathology of the Rett syndrome is summarized utilizing a format of clinical pathological correlations, describing the pathology at specific anatomic sites which could correlate with the well defined clinical signs and symptoms in the Rett syndrome; decreased head and body size, autism, gait dysfunction, spasticity, movement and breathing disorder. Published reports of altered morphology in the cerebral cortex, basal ganglia, substantia nigra, cerebellum, spinal cord, muscle, nerve, pituitary gland and somatic organs are supplemented by the author's observations. These include studies of dendritic morphology employing Scholl analysis of Golgi preparation, and quantitation of cerebellar Purkinje cells. The possible pathoetiology of the Rett syndrome is considered, particularly, in relation to the ultrastructural demonstration of altered mitochondria and accumulations of lipidic bodies in several tissues.
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PMID:The neuropathology of the Rett syndrome. 162 39

Our previous reports have pointed out that the Rett syndrome (RS) starts from early infancy with autistic behavior and muscle hypotonia, and we have raised the hypothesis in regard to the pathophysiology that RS can be an early developmental disorder of the monoaminergic and indolamine systems. This paper presents the reanalysis of early motor and behavioral features performed on 16 patients. The most frequent complaint was developmental delay, but 2 cases were presented with autistic behaviors. Development showed delay even from head control. Crawling was particularly difficult. Muscle hypotonia was present in all cases. Early autistic behaviors were seen in high degree and the most frequent was the pervasive lack of social association. Autistic behaviors characterizing older autism were seen in various degrees. These findings reconfirm our previous reports and hypothesis. Furthermore, it can be suggested that the onset may even be in the fetal stage and that lesions of specific neuronal systems occurring in early ontogeny could result in specific abnormality in the higher system which manifest later in development, after these structures reach certain levels of maturation.
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PMID:Clinical features of the early stage of the Rett syndrome. 169 43

Rett syndrome is a neurologic disorder characterized by early normal development followed by regression, acquired deceleration of head growth, autism, ataxia, and stereotypic hand movements. The exclusive occurrence of the syndrome in females and the occurrence of a few familial cases with inheritance through maternal lines suggest that this disorder is most likely secondary to a mutation on the X chromosome. To address this hypothesis and to identify candidate regions for the Rett syndrome gene locus, genotypic analysis was performed in two families with maternally related affected half-sisters by using 63 DNA markers from the X chromosome. Maternal and paternal X chromosomes from the affected sisters were separated in somatic cell hybrids and were examined for concordance/discordance of maternal alleles at the tested loci. Thirty-six markers were informative in at least one of the two families, and 25 markers were informative in both families. Twenty loci were excluded as candidates for the Rett syndrome gene, on the basis of discordance for maternal alleles in the half-sisters. Nineteen of the loci studied were chosen for multipoint linkage analysis because they have been previously genetically mapped using a large number of meioses from reference families. Using the exclusion criterion of a lod score less than -2, we were able to exclude the region between the Duchenne muscular dystrophy locus and the DXS456 locus. This region extends from Xp21.2 to Xq21-q23. The use of the multipoint linkage analysis approach outlined in this study should allow the exclusion of additional regions of the X chromosome as new markers are analyzed. This in turn will result in a defined region of the X chromosome that should be searched for candidate sequences for the Rett syndrome gene in both familial and sporadic cases.
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PMID:Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. 173 12

A comprehensive review of Rett syndrome, a recently identified developmental disability found only in females, was presented. The syndrome involves severe physical and mental handicaps. The rapidly accumulating research on Rett syndrome was reviewed for readers without a medical background. A brief history of Rett syndrome, the diagnostic criteria for this disorder, and the clinical stages that have been noted were presented. Information on the incidence of Rett syndrome and a discussion of issues in differential diagnosis (particularly with autism) was also included. The etiological data and genetic theories were then discussed as were treatment approaches and prognosis.
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PMID:Rett syndrome: a comprehensive review of the literature. 175 32


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