Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Détail de l'auteur
Auteur Joseph F. CUBELLS |
Documents disponibles écrits par cet auteur (2)
Faire une suggestion Affiner la recherche
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 Validation of the Autism Spectrum Screening Questionnaire, Mandarin Chinese Version (CH-ASSQ) in Beijing, China / Yan-Qing GUO in Autism, 15-6 (November 2011)
[article]
Titre : Validation of the Autism Spectrum Screening Questionnaire, Mandarin Chinese Version (CH-ASSQ) in Beijing, China Type de document : Texte imprimé et/ou numérique Auteurs : Yan-Qing GUO, Auteur ; Yilang TANG, Auteur ; Catherine E. RICE, Auteur ; Li-Ching LEE, Auteur ; Yu-Feng WANG, Auteur ; Joseph F. CUBELLS, Auteur Année de publication : 2011 Article en page(s) : p.713-727 Langues : Anglais (eng) Mots-clés : Screening ASSQ validity cutoff Mandarin Chinese Index. décimale : PER Périodiques Résumé : Background: This study screened children in Beijing, China, in order to establish the validity of a Mandarin Chinese translation of the ASSQ.
Methods: We recruited children diagnosed with autism spectrum disorders (ASDs), attention deficit/hyperactivity disorder (ADHD), childhood-onset schizophrenia (COS) (DSM-IV diagnoses made independently by two senior psychiatrists) and unaffected children attending a public school in Beijing. Their parents were asked to complete the CH-ASSQ.
Results: Data from the parents of 94 children with ASD (mean age: 81 ± 47 months), 45 with ADHD (106 ± 27 months), 26 with COS (166 ± 36 months), and 120 unaffected control (72 ± 16 months) were collected. The total scores of ASSQ in children with ASD, ADHD, COS, and unaffected controls were 25.3 ± 9.2, 10.4 ± 7.1, 12.2 ± 10.6, and 5.2 ± 6.6 respectively. Total ASSQ scores of children with ASD were significantly higher than in any other group (all p < .0001). ROC analysis of ASD versus unaffected control subjects showed the area under curve was 0.957, with a cutoff of 12 having the maximum sensitivity (0.957) and specificity (0.825).
Conclusions: Our pilot data suggest that CH-ASSQ successfully differentiates clinically diagnosed ASD patients from unaffected controls, as well as from patients with ADHD and COS. The instrument might therefore be useful for screening for ASD in urban Mandarin Chinese-speaking populations.En ligne : http://dx.doi.org/10.1177/1362361310396383 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149
in Autism > 15-6 (November 2011) . - p.713-727[article] Validation of the Autism Spectrum Screening Questionnaire, Mandarin Chinese Version (CH-ASSQ) in Beijing, China [Texte imprimé et/ou numérique] / Yan-Qing GUO, Auteur ; Yilang TANG, Auteur ; Catherine E. RICE, Auteur ; Li-Ching LEE, Auteur ; Yu-Feng WANG, Auteur ; Joseph F. CUBELLS, Auteur . - 2011 . - p.713-727.
Langues : Anglais (eng)
in Autism > 15-6 (November 2011) . - p.713-727
Mots-clés : Screening ASSQ validity cutoff Mandarin Chinese Index. décimale : PER Périodiques Résumé : Background: This study screened children in Beijing, China, in order to establish the validity of a Mandarin Chinese translation of the ASSQ.
Methods: We recruited children diagnosed with autism spectrum disorders (ASDs), attention deficit/hyperactivity disorder (ADHD), childhood-onset schizophrenia (COS) (DSM-IV diagnoses made independently by two senior psychiatrists) and unaffected children attending a public school in Beijing. Their parents were asked to complete the CH-ASSQ.
Results: Data from the parents of 94 children with ASD (mean age: 81 ± 47 months), 45 with ADHD (106 ± 27 months), 26 with COS (166 ± 36 months), and 120 unaffected control (72 ± 16 months) were collected. The total scores of ASSQ in children with ASD, ADHD, COS, and unaffected controls were 25.3 ± 9.2, 10.4 ± 7.1, 12.2 ± 10.6, and 5.2 ± 6.6 respectively. Total ASSQ scores of children with ASD were significantly higher than in any other group (all p < .0001). ROC analysis of ASD versus unaffected control subjects showed the area under curve was 0.957, with a cutoff of 12 having the maximum sensitivity (0.957) and specificity (0.825).
Conclusions: Our pilot data suggest that CH-ASSQ successfully differentiates clinically diagnosed ASD patients from unaffected controls, as well as from patients with ADHD and COS. The instrument might therefore be useful for screening for ASD in urban Mandarin Chinese-speaking populations.En ligne : http://dx.doi.org/10.1177/1362361310396383 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149