1,721,020 research outputs found
Autistic epileptiform regression
No full textAutistic regression is a well known condition that occurs in one third of children with pervasive developmental disorders, who, after normal development in the first year of life, undergo a global regression during the second year that encompasses language, social skills and play. In a portion of these subjects, epileptiform abnormalities are present with or without seizures, resembling, in some respects, other epileptiform regressions of language and behaviour such as Landau-Kleffner syndrome. In these cases, for a more accurate definition of the clinical entity, the term autistic epileptifom regression has been suggested. As in other epileptic syndromes with regression, the relationships between EEG abnormalities, language and behaviour, in autism, are still unclear. We describe two cases of autistic epileptiform regression selected from a larger group of children with autistic spectrum disorders, with the aim of discussing the clinical features of the condition, the therapeutic approach and the outcome
Should a syndrome be called by its correct name? The example of the preserved speech variant of Rett syndrome
No full textEpilepsy, electroencephalographic abnormalities, and regression in children with autism
No full textThe association of epilepsy and autism is recognized, and it has been reported at a percentage that varies between 8 and 42%, depending on age and diagnostic criteria. One third of autistic children undergo a regression of language and behavior between 2 and 3 years, and epileptiform abnormalities and epilepsy can be concomitant in an undetermined percentage of them. The aim of this study was to investigate the prevalence of epilepsy and paroxysmal abnormalities in a group of children with autism and to determine the percentage of regression course in this group. Forty-six patients with autism (mean age 7.8 +/- 2.7 years; 34 boys and 12 girls) were consecutively examined, and clinical evaluation, assessment, and electroencephalographic (EEG) recordings were performed in all of them. Thirty-five percent showed paroxysmal abnormalities and epilepsy, 22% had only paroxysmal abnormalities without seizures, and 13% of the children suffered from epilepsy. Sixty-five percent had a normal EEG. No difference in regression rate was observed between patients with paroxysmal abnormalities and epilepsy and those with a normal EEG and without seizures. In the study group, the prevalence of epilepsy was in the low range of individuals with autism, and different types of epilepsy were observed. Autism with regression was not influenced by paroxysmal abnormalities and epilepsy
Effects of acetyl-L-carnitine on cardiac dysautonomia in Rett syndrome: prevention of sudden death?
No full textThere is a higher incidence of sudden death in patients with Rett syndrome than individuals in the general population. Previous studies have implicated cardiac dysautonomia and a long QT interval as causative factors. Because carnitine plays a critical role in cellular metabolism and may have beneficial effects on cardiac and nerve function, we investigated the effects of long-term treatment with acetyl-L-carnitine on heart rate variability and electrocardiographic abnormalities in 10 girls with Rett syndrome and compared the results with 12 control patients (girls with Rett syndrome who were not treated). The age range of the subjects was 2-21 years. The study design called for the evaluation of heart rate variability, corrected QT interval, and QTc dispersion. In the 10 Rett girls treated with acetyl-L-carnitine, a significant increase in heart rate variability was observed. To explain these results, we hypothesize that acetyl-L-carnitine has a neurotrophic action on the cardiac autonomic nervous system. This effect may reduce the risk of sudden death in patients with this syndrome
Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835
No full textIn order to verify the pathogenic role of mitochondria in Rett syndrome, the results are reported of skin and muscle biopsies in two RS patients, showing morphological ultrastructural abnormalities in mitochondrial number and size. The investigation on two recently described mtDNA mutations (at nt 10463 and 2835) (Lewis et al., 1995; Tang et al., 1997) gave contrasting results with respect to previously reported data. In particular, the first mutation has been found in seven subjects, five of whom were from two different control groups, while the second mutation has been not detected in any of the 26 patients and controls. Although these results present some signs of a morphological impairment of mitochondria, they do not support the hypothesis that the two mutations may have a primary role in the pathogenesis of the syndrome and indicate the need for further investigations on the role of mtDNA in the pathogenesis of the syndrome
Preserved Speech Variants of the Rett Syndrome: Molecular and Clinical Analysis
No full textMutations in the MECP2 gene cause the severe neurodevelopmental disorder called Rett syndrome. Preliminary evidence suggests that MECP2 may be involved in a broader phenotype than classical Rett syndrome including preserved speech variants (PSV). Here we report clinical and mutation analysis of 18 PSV patients. Ten of them had a MECP2 mutation (55%). The clinical features of these girls have been characterized and two subgroups defined. All of them had slow recovery of verbal and praxic abilities, evident autistic behavior, and normal head circumference. Six were overweight, often obese, had kyphosis, coarse face, and mental age of two-to-three years, and were able to speak in sentences; four had normal weight, mental age not beyond one-to-two years, and spoke in single words and two-word phrases. The course of the disorder was in stages as in classic Rett syndrome. Hand-washing was present in the first years of life but often subsequently disappeared. Significantly, all mutations found in PSV are either missense or late truncating mutations. In particular, we did not find the four early truncating hot spots: R168X, R255X, R270X, R294X. These results suggest that early truncating mutations lead to a poor prognosis (classic Rett), while late truncating and missense mutations lead either to classic Rett or PSV. We hypothesize that a missense or late truncating mutation is necessary but not sufficient to produce a PSV, based on the presence of one (or more) modifier genes whose product may interact in a epistatic manner with MeCP2 protein
Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant
No full textIncidence of sudden death in Rett syndrome is greater than that of the general population, and cardiac electrical instability is a prime suspect cause. The objective of the present study was the evaluation of heart rate variability, a marker of autonomic activity, in females affected by classic Rett syndrome and atypical variants for a possible explanation of the higher risk for sudden death observed in these subjects. Our study showed that girls with classic Rett syndrome had significantly lower heart rate variability and longer corrected QT intervals than in atypical Rett syndrome and age-matched healthy girls. Reduction of heart rate variability progresses with age and with the clinical stage of the syndrome. These results suggest the possible role of the progressive cardiac dysfunction in the sudden death associated with Rett syndrome
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