EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study / A. G. NICOTERA in Journal of Autism and Developmental Disorders, 49-6 (June 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2337-2347 Titre : EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study Type de document : Texte imprimé et/ou numérique Auteurs : A. G. NICOTERA, Auteur ; Randi J. HAGERMAN, Auteur ; M. V. CATANIA, Auteur ; Serafino BUONO, Auteur ; S. DI NUOVO, Auteur ; E. M. LIPRINO, Auteur ; E. STRACUZZI, Auteur ; S. GIUSTO, Auteur ; Giuseppa DI VITA, Auteur ; S. A. MUSUMECI, Auteur Article en page(s) : p.2337-2347 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Biomarker  Epileptiform abnormalities  Hyperactivity  Phenotype Index. décimale : PER Périodiques Résumé : To date, the phenotypic significance of EEG abnormalities in patients with ASD is unclear. In a population affected by ASD we aimed to evaluate: the phenotypic characteristics; the prevalence of EEG abnormalities; the potential correlations between EEG abnormalities and behavioral and cognitive variables. Sixty-nine patients with ASD underwent cognitive or developmental testing, language assessment, and adaptive behavior skills evaluation as well as sleep/wake EEG recording. EEG abnormalities were found in 39.13% of patients. EEG abnormalities correlated with autism severity, hyperactivity, anger outbursts, aggression, negative or destructive behavior, motor stereotypies, intellectual disability, language impairment and self-harm. Our findings confirmed that EEG abnormalities are present in the ASD population and correlate with several associated phenotypic features. En ligne : https://dx.doi.org/10.1007/s10803-019-03908-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 [article] EEG Abnormalities as a Neurophysiological Biomarker of Severity in Autism Spectrum Disorder: A Pilot Cohort Study [Texte imprimé et/ou numérique] / A. G. NICOTERA, Auteur ; Randi J. HAGERMAN, Auteur ; M. V. CATANIA, Auteur ; Serafino BUONO, Auteur ; S. DI NUOVO, Auteur ; E. M. LIPRINO, Auteur ; E. STRACUZZI, Auteur ; S. GIUSTO, Auteur ; Giuseppa DI VITA, Auteur ; S. A. MUSUMECI, Auteur . - p.2337-2347. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2337-2347 Mots-clés : Autism spectrum disorder  Biomarker  Epileptiform abnormalities  Hyperactivity  Phenotype Index. décimale : PER Périodiques Résumé : To date, the phenotypic significance of EEG abnormalities in patients with ASD is unclear. In a population affected by ASD we aimed to evaluate: the phenotypic characteristics; the prevalence of EEG abnormalities; the potential correlations between EEG abnormalities and behavioral and cognitive variables. Sixty-nine patients with ASD underwent cognitive or developmental testing, language assessment, and adaptive behavior skills evaluation as well as sleep/wake EEG recording. EEG abnormalities were found in 39.13% of patients. EEG abnormalities correlated with autism severity, hyperactivity, anger outbursts, aggression, negative or destructive behavior, motor stereotypies, intellectual disability, language impairment and self-harm. Our findings confirmed that EEG abnormalities are present in the ASD population and correlate with several associated phenotypic features. En ligne : https://dx.doi.org/10.1007/s10803-019-03908-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400

Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability / Carmela SCUDERI in Research in Autism Spectrum Disorders, 100 (February 2023)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 100 (February 2023) . - 102084 Titre : Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability Type de document : Texte imprimé et/ou numérique Auteurs : Carmela SCUDERI, Auteur ; Sandro SANTA PAOLA, Auteur ; Mariangela LO GIUDICE, Auteur ; Francesco Domenico DI BLASI, Auteur ; Stefania GIUSTO, Auteur ; Giuseppa DI VITA, Auteur ; Rosa PETTINATO, Auteur ; Girolamo Aurelio VITELLO, Auteur ; Corrado ROMANO, Auteur ; Serafino BUONO, Auteur ; Vincenzo SALPIETRO, Auteur ; Henry HOULDEN, Auteur ; Eugenia BORGIONE, Auteur Article en page(s) : 102084 Langues : Anglais (eng) Mots-clés : Autism  Intellectual disability  MtDNA  Mitochondrial disease Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorders (ASD) are neurodevelopmental disorders, with heterogeneous etiology, characterized by deficiencies in social interaction, communication, and by repetitive and stereotyped behaviors. Mitochondrial encephalomyopathies are inherited disorders of oxidative metabolism, with a wide clinical, biochemical and genetic heterogeneity, requiring a complex diagnostic flow-chart. Infantile forms often occur with defects in development, intellectual disabilities and dysmorphisms. ASD has been associated with mitochondrial respiratory chain deficiency and/or mitochondrial DNA (mtDNA) mutations. However, few studies carried out detailed clinical, instrumental, morphological, biochemical investigations, and mtDNA sequencing in ASD patients. Method The purpose of this study was the identification of mitochondrial dysfunction due to mtDNA variants in 19 selected subjects presenting ASD and clinical features of mitochondrial disease. For these patients we adopted a multidisciplinary approach combining clinical and laboratory investigations on muscle biopsy, with biochemical, histological and genetic techniques. Results The histological examination showed myogenic or neurogenic changes in 79 % of patients; furthermore, 58 % of the patients had lipid accumulation, mitochondrial proliferation and COX deficient fibers. The biochemical investigations reported in three patients impairments involving one or more of the respiratory chain complexes. In addition, genetic studies revealed in one patient with normal histology and biochemistry multiple mtDNA deletions, and in four patients different mtDNA point mutations. Conclusions The present study confirms the hypothesis of an association between ASD and mitochondrial dysfunction. However, further studies in a larger group of subjects are needed. En ligne : https://doi.org/10.1016/j.rasd.2022.102084 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 [article] Mitochondrial DNA involvement in patients with autism spectrum disorders and intellectual disability [Texte imprimé et/ou numérique] / Carmela SCUDERI, Auteur ; Sandro SANTA PAOLA, Auteur ; Mariangela LO GIUDICE, Auteur ; Francesco Domenico DI BLASI, Auteur ; Stefania GIUSTO, Auteur ; Giuseppa DI VITA, Auteur ; Rosa PETTINATO, Auteur ; Girolamo Aurelio VITELLO, Auteur ; Corrado ROMANO, Auteur ; Serafino BUONO, Auteur ; Vincenzo SALPIETRO, Auteur ; Henry HOULDEN, Auteur ; Eugenia BORGIONE, Auteur . - 102084. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 100 (February 2023) . - 102084 Mots-clés : Autism  Intellectual disability  MtDNA  Mitochondrial disease Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorders (ASD) are neurodevelopmental disorders, with heterogeneous etiology, characterized by deficiencies in social interaction, communication, and by repetitive and stereotyped behaviors. Mitochondrial encephalomyopathies are inherited disorders of oxidative metabolism, with a wide clinical, biochemical and genetic heterogeneity, requiring a complex diagnostic flow-chart. Infantile forms often occur with defects in development, intellectual disabilities and dysmorphisms. ASD has been associated with mitochondrial respiratory chain deficiency and/or mitochondrial DNA (mtDNA) mutations. However, few studies carried out detailed clinical, instrumental, morphological, biochemical investigations, and mtDNA sequencing in ASD patients. Method The purpose of this study was the identification of mitochondrial dysfunction due to mtDNA variants in 19 selected subjects presenting ASD and clinical features of mitochondrial disease. For these patients we adopted a multidisciplinary approach combining clinical and laboratory investigations on muscle biopsy, with biochemical, histological and genetic techniques. Results The histological examination showed myogenic or neurogenic changes in 79 % of patients; furthermore, 58 % of the patients had lipid accumulation, mitochondrial proliferation and COX deficient fibers. The biochemical investigations reported in three patients impairments involving one or more of the respiratory chain complexes. In addition, genetic studies revealed in one patient with normal histology and biochemistry multiple mtDNA deletions, and in four patients different mtDNA point mutations. Conclusions The present study confirms the hypothesis of an association between ASD and mitochondrial dysfunction. However, further studies in a larger group of subjects are needed. En ligne : https://doi.org/10.1016/j.rasd.2022.102084 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491

Reading decoding and comprehension in children with autism spectrum disorders: Evidence from a language with regular orthography / Rosa ZUCCARELLO in Research in Autism Spectrum Disorders, 17 (September 2015)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 17 (September 2015) . - p.126-134 Titre : Reading decoding and comprehension in children with autism spectrum disorders: Evidence from a language with regular orthography Type de document : Texte imprimé et/ou numérique Auteurs : Rosa ZUCCARELLO, Auteur ; Francesco Domenico DI BLASI, Auteur ; Marinella ZINGALE, Auteur ; Simonetta PANERAI, Auteur ; Maria FINOCCHIARO, Auteur ; Grazia TRUBIA, Auteur ; Serafino BUONO, Auteur ; Pierluigi ZOCCOLOTTI, Auteur Année de publication : 2015 Article en page(s) : p.126-134 Langues : Anglais (eng) Mots-clés : Reading  Comprehension  Autism spectrum disorders  Borderline functioning Index. décimale : PER Périodiques Résumé : Abstract Decoding and comprehension skills in children with autism spectrum disorders (ASD) were analysed in children native speakers of a language (Italian) with a highly regular orthography. Children with ASD were compared to children with matched intellectual functioning: a subgroup of children with ASD and borderline intellectual functioning (BIF) was compared to a subgroup of children with BIF but no signs of ASD; a subgroup of children with ASD and cognitive functioning within normal limits was compared to a group of typically developing children. Children with ASD (whether with or without BIF) showed essentially spared decoding skills in text as well as word and pseudo-word reading; this was at variance with children with BIF who, as a group, showed overall deficient decoding skills, despite considerable individual differences. By contrast, children with ASD (once again, irrespective of the presence of BIF) showed a selective impairment in reading comprehension, just like children with BIF but unlike the typically developing ones. Therefore, results are generally consistent with a profile of hyperlexia for children with ASD learning a regular orthography, as previously reported for other languages. Notably, this pattern was present irrespective of the degree of cognitive impairment, and clearly distinguished these children from those with borderline intellectual functioning but not signs of autism. En ligne : http://dx.doi.org/10.1016/j.rasd.2015.06.013 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263 [article] Reading decoding and comprehension in children with autism spectrum disorders: Evidence from a language with regular orthography [Texte imprimé et/ou numérique] / Rosa ZUCCARELLO, Auteur ; Francesco Domenico DI BLASI, Auteur ; Marinella ZINGALE, Auteur ; Simonetta PANERAI, Auteur ; Maria FINOCCHIARO, Auteur ; Grazia TRUBIA, Auteur ; Serafino BUONO, Auteur ; Pierluigi ZOCCOLOTTI, Auteur . - 2015 . - p.126-134. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 17 (September 2015) . - p.126-134 Mots-clés : Reading  Comprehension  Autism spectrum disorders  Borderline functioning Index. décimale : PER Périodiques Résumé : Abstract Decoding and comprehension skills in children with autism spectrum disorders (ASD) were analysed in children native speakers of a language (Italian) with a highly regular orthography. Children with ASD were compared to children with matched intellectual functioning: a subgroup of children with ASD and borderline intellectual functioning (BIF) was compared to a subgroup of children with BIF but no signs of ASD; a subgroup of children with ASD and cognitive functioning within normal limits was compared to a group of typically developing children. Children with ASD (whether with or without BIF) showed essentially spared decoding skills in text as well as word and pseudo-word reading; this was at variance with children with BIF who, as a group, showed overall deficient decoding skills, despite considerable individual differences. By contrast, children with ASD (once again, irrespective of the presence of BIF) showed a selective impairment in reading comprehension, just like children with BIF but unlike the typically developing ones. Therefore, results are generally consistent with a profile of hyperlexia for children with ASD learning a regular orthography, as previously reported for other languages. Notably, this pattern was present irrespective of the degree of cognitive impairment, and clearly distinguished these children from those with borderline intellectual functioning but not signs of autism. En ligne : http://dx.doi.org/10.1016/j.rasd.2015.06.013 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=263

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