Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome / Rebecca M. POLLAK in Molecular Autism, 13 (2022)  

Public ISBD [article]  inMolecular Autism > 13 (2022) . - 50 p. 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 1.6 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=43.89 months; nsASD mean=37.86 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 [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 1.6 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=43.89 months; nsASD mean=37.86 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

Exploration of Treatment Response in Parent Training for Children with Autism Spectrum Disorder and Moderate Food Selectivity / T. Lindsey BURRELL in Journal of Autism and Developmental Disorders, 53-1 (January 2023)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 53-1 (January 2023) . - p.229-235 Titre : Exploration of Treatment Response in Parent Training for Children with Autism Spectrum Disorder and Moderate Food Selectivity Type de document : Texte imprimé et/ou numérique Auteurs : T. Lindsey BURRELL, Auteur ; Lawrence SCAHILL, Auteur ; Nadratu NUHU, Auteur ; Scott GILLESPIE, Auteur ; William SHARP, Auteur Article en page(s) : p.229-235 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Managing Eating Aversions and Limited Variety (MEAL) Plan is a structured parent-mediated intervention for children with autism spectrum disorder and moderate food selectivity. Our previously reported group-based clinical trial revealed a positive treatment response rate of 47.3%. Although encouraging, this response rate raises questions about factors that may affect treatment outcomes. Here, we examine the impact of child and parent characteristics and feeding behaviors on treatment response. Higher maternal education and higher child communication abilities at baseline were associated with positive treatment response. Improvement in sitting at the table and reductions in disruptive mealtime behavior promoted treatment success. Results also suggest that individually delivered MEAL Plan may offer more flexibility than group-based intervention for some parents. En ligne : https://doi.org/10.1007/s10803-021-05406-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=493 [article] Exploration of Treatment Response in Parent Training for Children with Autism Spectrum Disorder and Moderate Food Selectivity [Texte imprimé et/ou numérique] / T. Lindsey BURRELL, Auteur ; Lawrence SCAHILL, Auteur ; Nadratu NUHU, Auteur ; Scott GILLESPIE, Auteur ; William SHARP, Auteur . - p.229-235. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 53-1 (January 2023) . - p.229-235 Index. décimale : PER Périodiques Résumé : Managing Eating Aversions and Limited Variety (MEAL) Plan is a structured parent-mediated intervention for children with autism spectrum disorder and moderate food selectivity. Our previously reported group-based clinical trial revealed a positive treatment response rate of 47.3%. Although encouraging, this response rate raises questions about factors that may affect treatment outcomes. Here, we examine the impact of child and parent characteristics and feeding behaviors on treatment response. Higher maternal education and higher child communication abilities at baseline were associated with positive treatment response. Improvement in sitting at the table and reductions in disruptive mealtime behavior promoted treatment success. Results also suggest that individually delivered MEAL Plan may offer more flexibility than group-based intervention for some parents. En ligne : https://doi.org/10.1007/s10803-021-05406-w Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=493

Visual-Motor Integration Deficits in 3q29 Deletion Syndrome / T. Lindsey BURRELL ; Joseph F. CUBELLS ; Cheryl KLAIMAN ; Melissa M. MURPHY ; Celine A. SAULNIER ; Elaine F. WALKER ; Stormi Pulver WHITE ; Jennifer G. MULLE in Journal of Autism and Developmental Disorders, 54-8 (August 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-8 (August 2024) . - p.3142-3154 Titre : Visual-Motor Integration Deficits in 3q29 Deletion Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : 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) : p.3142-3154 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : 3q29 deletion syndrome (3q29del) is associated with neuropsychiatric and neurodevelopmental phenotypes. We previously reported that graphomotor weakness is present in up to 78% of individuals with 3q29del. We have now explored nuances of the graphomotor phenotype and its association with other comorbidities in this population. Participants were recruited from the online 3q29 registry (3q29deletion.org) for two days of deep phenotyping. 32 individuals with 3q29del (62.5% male) were evaluated with the Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI) to assess visual-motor integration. Participants were also evaluated with measures of cognitive ability, executive function, adaptive behavior, and school function. Males with 3q29del performed significantly worse than females on the VMI and Motor Coordination subtest. VMI performance was significantly associated with ADHD diagnosis and cognitive ability. Compared to published data from individuals with 22q11.2 deletion syndrome, individuals with 3q29del showed significantly more impairment. The 3q29 deletion is associated with substantial deficits in visual-motor integration, Visual Perception, and Motor Coordination. Our data suggests that 3q29del may qualify as a nonverbal learning disability. Future studies should assess whether individuals with 3q29del would benefit from early interventions, including occupational therapy. En ligne : https://doi.org/10.1007/s10803-023-06034-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534 [article] Visual-Motor Integration Deficits in 3q29 Deletion Syndrome [Texte imprimé et/ou numérique] / 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 . - p.3142-3154. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 54-8 (August 2024) . - p.3142-3154 Index. décimale : PER Périodiques Résumé : 3q29 deletion syndrome (3q29del) is associated with neuropsychiatric and neurodevelopmental phenotypes. We previously reported that graphomotor weakness is present in up to 78% of individuals with 3q29del. We have now explored nuances of the graphomotor phenotype and its association with other comorbidities in this population. Participants were recruited from the online 3q29 registry (3q29deletion.org) for two days of deep phenotyping. 32 individuals with 3q29del (62.5% male) were evaluated with the Beery-Buktenica Developmental Test of Visual-Motor Integration (VMI) to assess visual-motor integration. Participants were also evaluated with measures of cognitive ability, executive function, adaptive behavior, and school function. Males with 3q29del performed significantly worse than females on the VMI and Motor Coordination subtest. VMI performance was significantly associated with ADHD diagnosis and cognitive ability. Compared to published data from individuals with 22q11.2 deletion syndrome, individuals with 3q29del showed significantly more impairment. The 3q29 deletion is associated with substantial deficits in visual-motor integration, Visual Perception, and Motor Coordination. Our data suggests that 3q29del may qualify as a nonverbal learning disability. Future studies should assess whether individuals with 3q29del would benefit from early interventions, including occupational therapy. En ligne : https://doi.org/10.1007/s10803-023-06034-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=534

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