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
-
Résultat de la recherche
2 recherche sur le mot-clé 'Genomic disorder'
Affiner la recherche Générer le flux rss de la recherche
Partager le résultat de cette recherche Faire une suggestion
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 Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry / R. M. POLLAK in Molecular Autism, 10 (2019)
[article]
Titre : Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry Type de document : Texte imprimé et/ou numérique Auteurs : R. M. POLLAK, Auteur ; M. M. MURPHY, Auteur ; M. P. EPSTEIN, Auteur ; M. E. ZWICK, Auteur ; C. KLAIMAN, Auteur ; Celine A. SAULNIER, Auteur ; J. G. MULLE, Auteur Article en page(s) : 30 p. Langues : Anglais (eng) Mots-clés : 3q29 deletion Autism Copy number variants Developmental delay Genomic disorder Psychiatric genetics SRS Vineland-3 Index. décimale : PER Périodiques Résumé : Background: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described. Methods: We ascertained individuals with 3q29 deletion syndrome (3q29Del, "cases," n = 93, 58.1% male) and typically developing controls (n = 64, 51.6% male) through the 3q29 registry (https://3q29deletion.patientcrossroads.org). Self-report of neuropsychiatric illness was evaluated for 93 cases. Subsets of participants were evaluated with the Social Responsiveness Scale (SRS, n = 48 cases, 56 controls), Social Communication Questionnaire (n = 33 cases, 46 controls), Autism Spectrum Screening Questionnaire (n = 24 cases, 35 controls), and Achenbach Behavior Checklists (n = 48 cases, 57 controls). Results: 3q29Del cases report a higher prevalence of autism diagnoses versus the general population (29.0% vs. 1.47%, p < 2.2E- 16). Notably, 3q29 deletion confers a greater influence on risk for ASD in females (OR = 41.8, p = 4.78E- 05) than in males (OR = 24.6, p = 6.06E- 09); this is aligned with the reduced male:female bias from 4:1 in the general population to 2:1 in our study sample. Although 71% of cases do not report a diagnosis of ASD, there is evidence of significant social disability (3q29Del SRS T-score = 71.8, control SRS T-score = 45.9, p = 2.16E- 13). Cases also report increased frequency of generalized anxiety disorder compared to controls (28.0% vs. 6.2%, p = 0.001), which is mirrored by elevated mean scores on the Achenbach diagnostic and statistical manual-oriented sub-scales (p < 0.001). Finally, cases show a distinct constellation of ASD features on the SRS as compared to idiopathic ASD, with substantially elevated Restricted Interests and Repetitive Behaviors, but only mild impairment in Social Motivation. Conclusions: Our sample of 3q29Del is significantly enriched for ASD diagnosis, especially among females, and features of autism may be present even when an ASD diagnosis is not reported. Further, the constellation of ASD features in this population is distinct from idiopathic ASD, with substantially less impaired social motivation. Our study implies that ASD evaluation should be the standard of care for individuals with 3q29Del. From a research perspective, the distinct ASD subtype present in 3q29Del is an ideal entry point for expanding understanding of ASD. En ligne : https://dx.doi.org/10.1186/s13229-019-0281-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408
in Molecular Autism > 10 (2019) . - 30 p.[article] Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry [Texte imprimé et/ou numérique] / R. M. POLLAK, Auteur ; M. M. MURPHY, Auteur ; M. P. EPSTEIN, Auteur ; M. E. ZWICK, Auteur ; C. KLAIMAN, Auteur ; Celine A. SAULNIER, Auteur ; J. G. MULLE, Auteur . - 30 p.
Langues : Anglais (eng)
in Molecular Autism > 10 (2019) . - 30 p.
Mots-clés : 3q29 deletion Autism Copy number variants Developmental delay Genomic disorder Psychiatric genetics SRS Vineland-3 Index. décimale : PER Périodiques Résumé : Background: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described. Methods: We ascertained individuals with 3q29 deletion syndrome (3q29Del, "cases," n = 93, 58.1% male) and typically developing controls (n = 64, 51.6% male) through the 3q29 registry (https://3q29deletion.patientcrossroads.org). Self-report of neuropsychiatric illness was evaluated for 93 cases. Subsets of participants were evaluated with the Social Responsiveness Scale (SRS, n = 48 cases, 56 controls), Social Communication Questionnaire (n = 33 cases, 46 controls), Autism Spectrum Screening Questionnaire (n = 24 cases, 35 controls), and Achenbach Behavior Checklists (n = 48 cases, 57 controls). Results: 3q29Del cases report a higher prevalence of autism diagnoses versus the general population (29.0% vs. 1.47%, p < 2.2E- 16). Notably, 3q29 deletion confers a greater influence on risk for ASD in females (OR = 41.8, p = 4.78E- 05) than in males (OR = 24.6, p = 6.06E- 09); this is aligned with the reduced male:female bias from 4:1 in the general population to 2:1 in our study sample. Although 71% of cases do not report a diagnosis of ASD, there is evidence of significant social disability (3q29Del SRS T-score = 71.8, control SRS T-score = 45.9, p = 2.16E- 13). Cases also report increased frequency of generalized anxiety disorder compared to controls (28.0% vs. 6.2%, p = 0.001), which is mirrored by elevated mean scores on the Achenbach diagnostic and statistical manual-oriented sub-scales (p < 0.001). Finally, cases show a distinct constellation of ASD features on the SRS as compared to idiopathic ASD, with substantially elevated Restricted Interests and Repetitive Behaviors, but only mild impairment in Social Motivation. Conclusions: Our sample of 3q29Del is significantly enriched for ASD diagnosis, especially among females, and features of autism may be present even when an ASD diagnosis is not reported. Further, the constellation of ASD features in this population is distinct from idiopathic ASD, with substantially less impaired social motivation. Our study implies that ASD evaluation should be the standard of care for individuals with 3q29Del. From a research perspective, the distinct ASD subtype present in 3q29Del is an ideal entry point for expanding understanding of ASD. En ligne : https://dx.doi.org/10.1186/s13229-019-0281-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=408