Autism and Genetic Syndromes / Willem VERHOEVEN  

Public ISBD in Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment / Stephen I. DEUTSCH   Titre : Autism and Genetic Syndromes Type de document : texte imprimé Auteurs : Willem VERHOEVEN, Auteur ; Jos EGGER, Auteur ; Ilse FEENSTRA, Auteur Année de publication : 2011 Importance : p.31-48 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques En ligne : http://dx.doi.org/10.5772/19161 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=143 in Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment / Stephen I. DEUTSCH   Autism and Genetic Syndromes [texte imprimé] / Willem VERHOEVEN, Auteur ; Jos EGGER, Auteur ; Ilse FEENSTRA, Auteur . - 2011 . - p.31-48. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques En ligne : http://dx.doi.org/10.5772/19161 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=143

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EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction / Anneke DE BOER in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 5p. Titre : EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction Type de document : texte imprimé Auteurs : Anneke DE BOER, Auteur ; Karlijn VERMEULEN, Auteur ; Jos EGGER, Auteur ; Joost G.E. JANZING, Auteur ; Nicole DE LEEUW, Auteur ; Hermine E. VEENSTRA-KNOL, Auteur ; Nicolette S. DEN HOLLANDER, Auteur ; Hans VAN BOKHOVEN, Auteur ; Wouter STAAL, Auteur ; Tjitske KLEEFSTRA, Auteur Article en page(s) : 5p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Cognition  Ehtm1  Kleefstra syndrome  Major depressive disorder  Mosaicism Index. décimale : PER Périodiques Résumé : Background: Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability. A high degree of psychopathology is associated with this syndrome. A few parents with a mosaic EHMT1 mutation have been detected upon testing after a child was diagnosed with a germline EHMT1 defect. At first glance, carriers of a mosaic EHMT1 mutation appeared to function normally. However, recent studies have shown that de novo, postzygotic mutations in important developmental genes significantly contribute to autism spectrum disorder (ASD). Therefore, we hypothesized that EHMT1 mosaicism could cause neuropsychiatric defects. To investigate this, we performed a detailed investigation of cognitive neuropsychiatric parameters in parents identified with EHMT1 mosaicism. Methods: Three adults (two males, one female) with a genetically confirmed diagnosis of EHMT1 mosaicism were examined by means of a battery of tests and observational instruments covering both neurocognitive and psychiatric features. The battery included the following instruments: the Autism Diagnostic Observation Schedule (ADOS), the mini Psychiatric Assessment Schedules for Adults with Developmental Disabilities (mini PAS-ADD), the Vineland Adaptive Behavior Scales (VABS), and the Cambridge Neuropsychological Test Automated Battery (CANTAB). These measures were compared with our previously reported data from Kleefstra syndrome patients with confirmed (germline) EHMT1 defects. Results: All three subjects achieved maximum total scores on the VABS, indicative of adequate (adaptive) functioning. In all, scores above cutoff were found on the ADOS for ASD and on the mini PAS-ADD for major depressive disorder (lifetime). Finally, results on the CANTAB showed impaired cognitive flexibility in all subjects. Conclusion: Individuals with EHMT1 mosaicism seem to have increased vulnerability for developing severe psychopathology, especially ASD and mood disorders. Although at first glance they appear to be well-adapted in their daily functioning, they may experience significant psychiatric symptoms and show reduced cognitive flexibility in comparison to the general population. En ligne : http://dx.doi.org/10.1186/s13229-018-0193-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=354 [article] EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction [texte imprimé] / Anneke DE BOER, Auteur ; Karlijn VERMEULEN, Auteur ; Jos EGGER, Auteur ; Joost G.E. JANZING, Auteur ; Nicole DE LEEUW, Auteur ; Hermine E. VEENSTRA-KNOL, Auteur ; Nicolette S. DEN HOLLANDER, Auteur ; Hans VAN BOKHOVEN, Auteur ; Wouter STAAL, Auteur ; Tjitske KLEEFSTRA, Auteur . - 5p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 5p. Mots-clés : Autism spectrum disorder  Cognition  Ehtm1  Kleefstra syndrome  Major depressive disorder  Mosaicism Index. décimale : PER Périodiques Résumé : Background: Genetic mosaicism is only detected occasionally when there are no obvious health or developmental issues. Most cases concern healthy parents in whom mosaicism is identified upon targeted testing of a genetic defect that was initially detected in their children. A germline genetic defect affecting the euchromatin histone methyltransferase 1 (EHMT1) gene causes Kleefstra syndrome, which is associated with the typical triad of distinct facial appearance, (childhood) hypotonia, and intellectual disability. A high degree of psychopathology is associated with this syndrome. A few parents with a mosaic EHMT1 mutation have been detected upon testing after a child was diagnosed with a germline EHMT1 defect. At first glance, carriers of a mosaic EHMT1 mutation appeared to function normally. However, recent studies have shown that de novo, postzygotic mutations in important developmental genes significantly contribute to autism spectrum disorder (ASD). Therefore, we hypothesized that EHMT1 mosaicism could cause neuropsychiatric defects. To investigate this, we performed a detailed investigation of cognitive neuropsychiatric parameters in parents identified with EHMT1 mosaicism. Methods: Three adults (two males, one female) with a genetically confirmed diagnosis of EHMT1 mosaicism were examined by means of a battery of tests and observational instruments covering both neurocognitive and psychiatric features. The battery included the following instruments: the Autism Diagnostic Observation Schedule (ADOS), the mini Psychiatric Assessment Schedules for Adults with Developmental Disabilities (mini PAS-ADD), the Vineland Adaptive Behavior Scales (VABS), and the Cambridge Neuropsychological Test Automated Battery (CANTAB). These measures were compared with our previously reported data from Kleefstra syndrome patients with confirmed (germline) EHMT1 defects. Results: All three subjects achieved maximum total scores on the VABS, indicative of adequate (adaptive) functioning. In all, scores above cutoff were found on the ADOS for ASD and on the mini PAS-ADD for major depressive disorder (lifetime). Finally, results on the CANTAB showed impaired cognitive flexibility in all subjects. Conclusion: Individuals with EHMT1 mosaicism seem to have increased vulnerability for developing severe psychopathology, especially ASD and mood disorders. Although at first glance they appear to be well-adapted in their daily functioning, they may experience significant psychiatric symptoms and show reduced cognitive flexibility in comparison to the general population. En ligne : http://dx.doi.org/10.1186/s13229-018-0193-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=354

How Stimulus and Task Complexity Affect Monitoring in High-Functioning Adults with Autism Spectrum Disorder / Sophieke KOOLEN in Journal of Autism and Developmental Disorders, 44-10 (October 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2499-2513 Titre : How Stimulus and Task Complexity Affect Monitoring in High-Functioning Adults with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Sophieke KOOLEN, Auteur ; Constance T.W.M. VISSERS, Auteur ; Jos EGGER, Auteur ; Ludo VERHOEVEN, Auteur Article en page(s) : p.2499-2513 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Executive function  Monitoring  Task variables Index. décimale : PER Périodiques Résumé : The present study examined whether individuals with autism spectrum disorder (ASD) are able to update and monitor working memory representations of visual input, and whether performance is influenced by stimulus and task complexity. 15 high-functioning adults with ASD and 15 controls were asked to allocate either elements of abstract figures or semantically meaningful pictures to the correct category, according to a certain set of rules. In general, the groups did not differ on measures of intelligence, working memory, attention, fluency and memory. For the monitoring of allocation of abstract figures, a similar pattern of reaction times was found for ASD and control participants. For the monitoring of allocation of semantically meaningful pictures, a different response pattern was found, with a stronger increase in response times for the ASD than for the control group when the number of categories increased. This suggests that participants with ASD are able to monitor working memory representations, but suffer under more complex circumstances. En ligne : http://dx.doi.org/10.1007/s10803-014-2119-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240 [article] How Stimulus and Task Complexity Affect Monitoring in High-Functioning Adults with Autism Spectrum Disorder [texte imprimé] / Sophieke KOOLEN, Auteur ; Constance T.W.M. VISSERS, Auteur ; Jos EGGER, Auteur ; Ludo VERHOEVEN, Auteur . - p.2499-2513. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2499-2513 Mots-clés : Autism spectrum disorder  Executive function  Monitoring  Task variables Index. décimale : PER Périodiques Résumé : The present study examined whether individuals with autism spectrum disorder (ASD) are able to update and monitor working memory representations of visual input, and whether performance is influenced by stimulus and task complexity. 15 high-functioning adults with ASD and 15 controls were asked to allocate either elements of abstract figures or semantically meaningful pictures to the correct category, according to a certain set of rules. In general, the groups did not differ on measures of intelligence, working memory, attention, fluency and memory. For the monitoring of allocation of abstract figures, a similar pattern of reaction times was found for ASD and control participants. For the monitoring of allocation of semantically meaningful pictures, a different response pattern was found, with a stronger increase in response times for the ASD than for the control group when the number of categories increased. This suggests that participants with ASD are able to monitor working memory representations, but suffer under more complex circumstances. En ligne : http://dx.doi.org/10.1007/s10803-014-2119-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240

Involvement of the central nervous system in congenital muscular dystrophies / Jos EGGER in Developmental Medicine & Child Neurology, 25-1 (February 1983)

Public ISBD [article]  inDevelopmental Medicine & Child Neurology > 25-1 (February 1983) . - p.32-42 Titre : Involvement of the central nervous system in congenital muscular dystrophies Type de document : texte imprimé Auteurs : Jos EGGER, Auteur ; Magda ERDOHAZI, Auteur ; Brian E. KENDALL, Auteur ; B.D. LAKE, Auteur ; J. WILSON, Auteur ; E.M. BRETT, Auteur Année de publication : 1983 Article en page(s) : p.32-42 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Three children, two siblings and one unrelated child, with congenital muscular dystrophy with central nervous system (CNS) involvement are discussed. The siblings appeared to suffer from a relatively mild myopathy with progressive brain disease, of which brain biopsy in one showed astrocytic proliferation in the white matter. In the patient with severe muscle disease, autopsy showed widespread patchy demyelination in the white matter and developmental abnormalities in the cerebral and cerebellar cortex. These patients differ from the Japanese (Fukuyama) cases of CMD in the severity of the changes in the cerebral white matter, and from Santavuori's cases in the absence of ocular abnormalities and hydrocephalus. Their unique nosology is discussed. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559 [article] Involvement of the central nervous system in congenital muscular dystrophies [texte imprimé] / Jos EGGER, Auteur ; Magda ERDOHAZI, Auteur ; Brian E. KENDALL, Auteur ; B.D. LAKE, Auteur ; J. WILSON, Auteur ; E.M. BRETT, Auteur . - 1983 . - p.32-42. Langues : Anglais (eng) in Developmental Medicine & Child Neurology > 25-1 (February 1983) . - p.32-42 Index. décimale : PER Périodiques Résumé : Three children, two siblings and one unrelated child, with congenital muscular dystrophy with central nervous system (CNS) involvement are discussed. The siblings appeared to suffer from a relatively mild myopathy with progressive brain disease, of which brain biopsy in one showed astrocytic proliferation in the white matter. In the patient with severe muscle disease, autopsy showed widespread patchy demyelination in the white matter and developmental abnormalities in the cerebral and cerebellar cortex. These patients differ from the Japanese (Fukuyama) cases of CMD in the severity of the changes in the cerebral white matter, and from Santavuori's cases in the absence of ocular abnormalities and hydrocephalus. Their unique nosology is discussed. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=559

On the relationship between autistic traits and executive functioning in a non-clinical Dutch student population / Joseph H.R. MAES in Autism, 17-4 (July 2013)  

Public ISBD [article]  inAutism > 17-4 (July 2013) . - p.379-389 Titre : On the relationship between autistic traits and executive functioning in a non-clinical Dutch student population Type de document : texte imprimé Auteurs : Joseph H.R. MAES, Auteur ; Constance T.W.M. VISSERS, Auteur ; Jos EGGER, Auteur ; Paul A.T.M. ELING, Auteur Article en page(s) : p.379-389 Langues : Anglais (eng) Mots-clés : Autism-Spectrum Quotient  executive functioning  non-clinical student population  phonemic fluency  random number generation  Temperament and Character Inventory Index. décimale : PER Périodiques Résumé : We examined the association between autistic traits and different aspects of executive functioning (EF), using non-clinical Social Science and Science students as participants. Autistic traits, and associated personality traits, were measured using the Autism Quotient (AQ) and the Temperament and Character Inventory (TCI), respectively. EF was examined by means of a random number generation test and a phonemic fluency test. Using appropriate dependent measures, the following EF components were examined: 1) inhibition of prepotent responding, 2) simple output inhibition, 3) working memory monitoring and updating, and 4) switching. No significant relationship was found between the AQ and each of the four components of EF. However, two TCI subscales were reliably correlated with either the working memory or the shifting component. These results were discussed in view of the concept of an autism spectrum with respect to executive abilities. En ligne : http://dx.doi.org/10.1177/1362361312442009 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=206 [article] On the relationship between autistic traits and executive functioning in a non-clinical Dutch student population [texte imprimé] / Joseph H.R. MAES, Auteur ; Constance T.W.M. VISSERS, Auteur ; Jos EGGER, Auteur ; Paul A.T.M. ELING, Auteur . - p.379-389. Langues : Anglais (eng) in Autism > 17-4 (July 2013) . - p.379-389 Mots-clés : Autism-Spectrum Quotient  executive functioning  non-clinical student population  phonemic fluency  random number generation  Temperament and Character Inventory Index. décimale : PER Périodiques Résumé : We examined the association between autistic traits and different aspects of executive functioning (EF), using non-clinical Social Science and Science students as participants. Autistic traits, and associated personality traits, were measured using the Autism Quotient (AQ) and the Temperament and Character Inventory (TCI), respectively. EF was examined by means of a random number generation test and a phonemic fluency test. Using appropriate dependent measures, the following EF components were examined: 1) inhibition of prepotent responding, 2) simple output inhibition, 3) working memory monitoring and updating, and 4) switching. No significant relationship was found between the AQ and each of the four components of EF. However, two TCI subscales were reliably correlated with either the working memory or the shifting component. These results were discussed in view of the concept of an autism spectrum with respect to executive abilities. En ligne : http://dx.doi.org/10.1177/1362361312442009 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=206

The Interplay Between Attentional Strategies and Language Processing in High-functioning Adults with Autism Spectrum Disorder / Sophieke KOOLEN in Journal of Autism and Developmental Disorders, 42-5 (May 2012)  

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