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Autism Spectrum Disorder Associated with 48,XXYY: Case Report of a Rare Clinical Syndrome / Cristina C. SILVA in Journal of Autism and Developmental Disorders, 52-8 (August 2022)
[article]
Titre : Autism Spectrum Disorder Associated with 48,XXYY: Case Report of a Rare Clinical Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Cristina C. SILVA, Auteur ; Sofia MORAIS, Auteur ; Graça AREIAS, Auteur ; Maria S. MENESES, Auteur ; Nuno G. G. F. MADEIRA, Auteur ; Christopher R. C. RAMOS, Auteur Article en page(s) : p.3755-3757 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis Humans Syndrome Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-021-05239-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485
in Journal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3755-3757[article] Autism Spectrum Disorder Associated with 48,XXYY: Case Report of a Rare Clinical Syndrome [Texte imprimé et/ou numérique] / Cristina C. SILVA, Auteur ; Sofia MORAIS, Auteur ; Graça AREIAS, Auteur ; Maria S. MENESES, Auteur ; Nuno G. G. F. MADEIRA, Auteur ; Christopher R. C. RAMOS, Auteur . - p.3755-3757.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-8 (August 2022) . - p.3755-3757
Mots-clés : Autism Spectrum Disorder/diagnosis Humans Syndrome Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-021-05239-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=485 Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome / Rebecca M. POLLAK in Molecular Autism, 13 (2022)
[article]
Titre : Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Rebecca M. POLLAK, Auteur ; Jordan E. PINCUS, Auteur ; T. Lindsey BURRELL, Auteur ; Joseph F. CUBELLS, Auteur ; Cheryl KLAIMAN, Auteur ; Melissa M. MURPHY, Auteur ; Celine A. SAULNIER, Auteur ; Elaine F. WALKER, Auteur ; Stormi PULVER. WHITE, Auteur ; Jennifer G. MULLE, Auteur Article en page(s) : 50 p. Langues : Anglais (eng) Mots-clés : Male Female Humans Autism Spectrum Disorder/diagnosis/genetics Syndrome Social Skills Surveys and Questionnaires Phenotype 3q29 deletion Adi-r Ados-2 Autism Copy number variants Developmental delay Genomic disorder Psychiatric genetics other authors report no conflicts of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: The 1.6Â Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail. METHODS: Thirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators. RESULTS: Subjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean=11.36; nsASD mean=15.70; p=0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean=1.73; nsASD mean=3.63; p=0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean=43.89Â months; nsASD mean=37.86Â months; p=0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD. LIMITATIONS: There were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects. CONCLUSIONS: 3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services. En ligne : http://dx.doi.org/10.1186/s13229-022-00533-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491
in Molecular Autism > 13 (2022) . - 50 p.[article] Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome [Texte imprimé et/ou numérique] / Rebecca M. POLLAK, Auteur ; Jordan E. PINCUS, Auteur ; T. Lindsey BURRELL, Auteur ; Joseph F. CUBELLS, Auteur ; Cheryl KLAIMAN, Auteur ; Melissa M. MURPHY, Auteur ; Celine A. SAULNIER, Auteur ; Elaine F. WALKER, Auteur ; Stormi PULVER. WHITE, Auteur ; Jennifer G. MULLE, Auteur . - 50 p.
Langues : Anglais (eng)
in Molecular Autism > 13 (2022) . - 50 p.
Mots-clés : Male Female Humans Autism Spectrum Disorder/diagnosis/genetics Syndrome Social Skills Surveys and Questionnaires Phenotype 3q29 deletion Adi-r Ados-2 Autism Copy number variants Developmental delay Genomic disorder Psychiatric genetics other authors report no conflicts of interest. Index. décimale : PER Périodiques Résumé : BACKGROUND: The 1.6Â Mb 3q29 deletion is associated with neurodevelopmental and neuropsychiatric phenotypes, including a 19-fold increased risk for autism spectrum disorder (ASD). Previous work by our team identified elevated social disability in this population via parent-report questionnaires. However, clinical features of ASD in this population have not been explored in detail. METHODS: Thirty-one individuals with 3q29 deletion syndrome (3q29del, 61.3% male) were evaluated using two gold-standard clinical ASD evaluations: the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), and the Autism Diagnostic Interview, Revised (ADI-R). Four matched comparators for each subject were ascertained from the National Database for Autism Research. Item-level scores on the ADOS-2 and ADI-R were compared between subjects with 3q29del and matched comparators. RESULTS: Subjects with 3q29del and no ASD (3q29del-ASD) had greater evidence of social disability compared to typically developing (TD) comparison subjects across the ADOS-2. Subjects with 3q29del and ASD (3q29del + ASD) were largely indistinguishable from non-syndromic ASD (nsASD) subjects on the ADOS-2. 3q29del + ASD performed significantly better on social communication on the ADI-R than nsASD (3q29 + ASD mean=11.36; nsASD mean=15.70; p=0.01), and this was driven by reduced deficits in nonverbal communication (3q29 + ASD mean=1.73; nsASD mean=3.63; p=0.03). 3q29del + ASD reported significantly later age at the first two-word phrase compared to nsASD (3q29del + ASD mean=43.89Â months; nsASD mean=37.86Â months; p=0.01). However, speech delay was not related to improved nonverbal communication in 3q29del + ASD. LIMITATIONS: There were not enough TD comparators with ADI-R data in NDAR to include in the present analysis. Additionally, our relatively small sample size made it difficult to assess race and ethnicity effects. CONCLUSIONS: 3q29del is associated with significant social disability, irrespective of ASD diagnosis. 3q29del + ASD have similar levels of social disability to nsASD, while 3q29del-ASD have significantly increased social disability compared to TD individuals. However, social communication is reasonably well preserved in 3q29del + ASD relative to nsASD. It is critical that verbal ability and social disability be examined separately in this population to ensure equal access to ASD and social skills evaluations and services. En ligne : http://dx.doi.org/10.1186/s13229-022-00533-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 Autism Spectrum Disorder and Clinical High Risk for Psychosis: A Systematic Review and Meta-analysis / Julio VAQUERIZO-SERRANO in Journal of Autism and Developmental Disorders, 52-4 (April 2022)
[article]
Titre : Autism Spectrum Disorder and Clinical High Risk for Psychosis: A Systematic Review and Meta-analysis Type de document : Texte imprimé et/ou numérique Auteurs : Julio VAQUERIZO-SERRANO, Auteur ; Gonzalo SALAZAR DE PABLO, Auteur ; Jatinder SINGH, Auteur ; Paramala SANTOSH, Auteur Article en page(s) : p.1568-1586 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/diagnosis/epidemiology Child Humans Psychotic Disorders/diagnosis Syndrome Autism spectrum disorders Clinical high-risk for psychosis Meta-analysis Prodromal psychosis Psychosis Systematic review Index. décimale : PER Périodiques Résumé : Psychotic experiences can occur in autism spectrum disorders (ASD). Some of the ASD individuals with these experiences may fulfil Clinical High-Risk for Psychosis (CHR-P) criteria. A systematic literature search was performed to review the information on ASD and CHR-P. A meta-analysis of the proportion of CHR-P in ASD was conducted. The systematic review included 13 studies. The mean age of ASD individuals across the included studies was 11.09 years. The Attenuated Psychosis Syndrome subgroup was the most frequently reported. Four studies were meta-analysed, showing that 11.6% of CHR-P individuals have an ASD diagnosis. Symptoms of prodromal psychosis may be present in individuals with ASD. The transition from CHR-P to psychosis is not affected by ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-05046-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475
in Journal of Autism and Developmental Disorders > 52-4 (April 2022) . - p.1568-1586[article] Autism Spectrum Disorder and Clinical High Risk for Psychosis: A Systematic Review and Meta-analysis [Texte imprimé et/ou numérique] / Julio VAQUERIZO-SERRANO, Auteur ; Gonzalo SALAZAR DE PABLO, Auteur ; Jatinder SINGH, Auteur ; Paramala SANTOSH, Auteur . - p.1568-1586.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-4 (April 2022) . - p.1568-1586
Mots-clés : Autism Spectrum Disorder/diagnosis/epidemiology Child Humans Psychotic Disorders/diagnosis Syndrome Autism spectrum disorders Clinical high-risk for psychosis Meta-analysis Prodromal psychosis Psychosis Systematic review Index. décimale : PER Périodiques Résumé : Psychotic experiences can occur in autism spectrum disorders (ASD). Some of the ASD individuals with these experiences may fulfil Clinical High-Risk for Psychosis (CHR-P) criteria. A systematic literature search was performed to review the information on ASD and CHR-P. A meta-analysis of the proportion of CHR-P in ASD was conducted. The systematic review included 13 studies. The mean age of ASD individuals across the included studies was 11.09 years. The Attenuated Psychosis Syndrome subgroup was the most frequently reported. Four studies were meta-analysed, showing that 11.6% of CHR-P individuals have an ASD diagnosis. Symptoms of prodromal psychosis may be present in individuals with ASD. The transition from CHR-P to psychosis is not affected by ASD. En ligne : http://dx.doi.org/10.1007/s10803-021-05046-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=475 Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile / G. AGAR in Molecular Autism, 12 (2021)
[article]
Titre : Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile Type de document : Texte imprimé et/ou numérique Auteurs : G. AGAR, Auteur ; C. BROWN, Auteur ; D. SUTHERLAND, Auteur ; S. COULBORN, Auteur ; C. OLIVER, Auteur ; C. RICHARDS, Auteur Article en page(s) : 18 p. Langues : Anglais (eng) Mots-clés : Congenital Abnormalities/epidemiology Humans Prevalence Sleep Wake Disorders/epidemiology Syndrome Genetic syndromes Intellectual disability Meta-analysis Sleep disorders Sleep profile Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disorders are common in people with intellectual disability (ID) and autism, with growing evidence of diverse sleep profiles across ID associated genetic syndromes. Documenting the prevalence and profile of specific sleep disorders in syndromes will quantify syndrome-driven 'risk', inform prognosis and enhance understanding of aetiology of sleep disorders. METHOD: Following PRISMA guidelines for meta-analysis, we searched Ovid PsycINFO, Ovid MEDLINE, Ovid Embase, Web of Science and PubMed Central with use of syndrome-specific keywords and 60 sleep-related search terms. We screened and extracted papers that reported sleep disorder prevalence data for five or more individuals within a genetic syndrome, and applied quality criteria to produce a quality-effects prevalence model of six types of sleep disorder across nineteen syndromes. Relative risk estimates were calculated for the prevalence of each sleep disorder in each syndrome. RESULTS: Two hundred and seventy three papers were identified, generating 463 prevalence estimates for Angelman, CHARGE, Cornelia de Lange, Down, fragile X, Prader-Willi, Rett, Smith-Magenis and Williams syndromes, mucopolysaccharidoses (MPS disorders), neurofibromatosis and tuberous sclerosis complex. Prevalence estimates were higher in genetic syndromes than published equivalents for typically developing individuals, with few exceptions. Between-syndrome differences for some disorders were evident; sleep-disordered breathing was most prevalent in MPS disorders (72-77%), while excessive daytime sleepiness was highest in Smith-Magenis syndrome (60%). Conversely, insomnia, which was reported at a higher rate than TD estimates in all syndromes except fragile X, was not associated with specific genetic risk. This suggests insomnia could emerge because of the individual's environment or associated developmental delay, rather than any specific genetic syndromes. LIMITATIONS: Due to the broad scope of the meta-analysis, only syndromes previously identified as reporting preliminary sleep research were included. Other syndromes may also experience elevated prevalence rates of specific types of sleep disorder. Only English language papers were included. CONCLUSIONS: Differing prevalence rates between types of sleep disorder suggest differing causal mechanisms, such as cranio-facial morphology in Down and Prader-Willi syndromes and the build-up of mucopolysaccharides in MPS disorders. Priorities for clinical assessment and intervention for sleep disorders are discussed. En ligne : http://dx.doi.org/10.1186/s13229-021-00426-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459
in Molecular Autism > 12 (2021) . - 18 p.[article] Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile [Texte imprimé et/ou numérique] / G. AGAR, Auteur ; C. BROWN, Auteur ; D. SUTHERLAND, Auteur ; S. COULBORN, Auteur ; C. OLIVER, Auteur ; C. RICHARDS, Auteur . - 18 p.
Langues : Anglais (eng)
in Molecular Autism > 12 (2021) . - 18 p.
Mots-clés : Congenital Abnormalities/epidemiology Humans Prevalence Sleep Wake Disorders/epidemiology Syndrome Genetic syndromes Intellectual disability Meta-analysis Sleep disorders Sleep profile Index. décimale : PER Périodiques Résumé : BACKGROUND: Sleep disorders are common in people with intellectual disability (ID) and autism, with growing evidence of diverse sleep profiles across ID associated genetic syndromes. Documenting the prevalence and profile of specific sleep disorders in syndromes will quantify syndrome-driven 'risk', inform prognosis and enhance understanding of aetiology of sleep disorders. METHOD: Following PRISMA guidelines for meta-analysis, we searched Ovid PsycINFO, Ovid MEDLINE, Ovid Embase, Web of Science and PubMed Central with use of syndrome-specific keywords and 60 sleep-related search terms. We screened and extracted papers that reported sleep disorder prevalence data for five or more individuals within a genetic syndrome, and applied quality criteria to produce a quality-effects prevalence model of six types of sleep disorder across nineteen syndromes. Relative risk estimates were calculated for the prevalence of each sleep disorder in each syndrome. RESULTS: Two hundred and seventy three papers were identified, generating 463 prevalence estimates for Angelman, CHARGE, Cornelia de Lange, Down, fragile X, Prader-Willi, Rett, Smith-Magenis and Williams syndromes, mucopolysaccharidoses (MPS disorders), neurofibromatosis and tuberous sclerosis complex. Prevalence estimates were higher in genetic syndromes than published equivalents for typically developing individuals, with few exceptions. Between-syndrome differences for some disorders were evident; sleep-disordered breathing was most prevalent in MPS disorders (72-77%), while excessive daytime sleepiness was highest in Smith-Magenis syndrome (60%). Conversely, insomnia, which was reported at a higher rate than TD estimates in all syndromes except fragile X, was not associated with specific genetic risk. This suggests insomnia could emerge because of the individual's environment or associated developmental delay, rather than any specific genetic syndromes. LIMITATIONS: Due to the broad scope of the meta-analysis, only syndromes previously identified as reporting preliminary sleep research were included. Other syndromes may also experience elevated prevalence rates of specific types of sleep disorder. Only English language papers were included. CONCLUSIONS: Differing prevalence rates between types of sleep disorder suggest differing causal mechanisms, such as cranio-facial morphology in Down and Prader-Willi syndromes and the build-up of mucopolysaccharides in MPS disorders. Priorities for clinical assessment and intervention for sleep disorders are discussed. En ligne : http://dx.doi.org/10.1186/s13229-021-00426-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 Brief Report: A Gene Enrichment Approach Applied to Sleep and Autism / Emily A. ABEL in Journal of Autism and Developmental Disorders, 50-5 (May 2020)
[article]
Titre : Brief Report: A Gene Enrichment Approach Applied to Sleep and Autism Type de document : Texte imprimé et/ou numérique Auteurs : Emily A. ABEL, Auteur ; A. J. SCHWICHTENBERG, Auteur ; Olivia R MANNIN, Auteur ; Kristine MARCEAU, Auteur Article en page(s) : p.1834-1840 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Circadian Gene Melatonin Sleep Syndrome Index. décimale : PER Périodiques Résumé : Sleep disorders (SD) are common in autism spectrum disorder (ASD), yet relatively little is known about the potential genetic mechanisms involved in SD and ASD comorbidity. The current study begins to fill this gap with a gene enrichment study that (1) identifies risk genes that contribute to both SD and ASD which implicate circadian entrainment, melatonin synthesis, and several genetic syndromes. An over-representation analysis identified several enriched pathways that suggest dopamine and serotonin synapses as potential shared SD and ASD mechanisms. This overlapping gene set and the highlighted biological pathways may serve as a preliminary stepping-stone for new genetic investigations of SD and ASD comorbidity. En ligne : http://dx.doi.org/10.1007/s10803-019-03921-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=422
in Journal of Autism and Developmental Disorders > 50-5 (May 2020) . - p.1834-1840[article] Brief Report: A Gene Enrichment Approach Applied to Sleep and Autism [Texte imprimé et/ou numérique] / Emily A. ABEL, Auteur ; A. J. SCHWICHTENBERG, Auteur ; Olivia R MANNIN, Auteur ; Kristine MARCEAU, Auteur . - p.1834-1840.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 50-5 (May 2020) . - p.1834-1840
Mots-clés : Autism spectrum disorder Circadian Gene Melatonin Sleep Syndrome Index. décimale : PER Périodiques Résumé : Sleep disorders (SD) are common in autism spectrum disorder (ASD), yet relatively little is known about the potential genetic mechanisms involved in SD and ASD comorbidity. The current study begins to fill this gap with a gene enrichment study that (1) identifies risk genes that contribute to both SD and ASD which implicate circadian entrainment, melatonin synthesis, and several genetic syndromes. An over-representation analysis identified several enriched pathways that suggest dopamine and serotonin synapses as potential shared SD and ASD mechanisms. This overlapping gene set and the highlighted biological pathways may serve as a preliminary stepping-stone for new genetic investigations of SD and ASD comorbidity. En ligne : http://dx.doi.org/10.1007/s10803-019-03921-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=422 Genes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression / Emily L. CASANOVA in Molecular Autism, 7 (2016)
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