Autism spectrum disorder symptom expression in individuals with 3q29 deletion syndrome

Molecular Autism

Research

Rebecca M. Pollak¹  Jennifer G. Mulle²  Joseph F. Cubells³  T. Lindsey Burrell⁴  Melissa M. Murphy⁴  Stormi Pulver White⁵  Cheryl Klaiman⁵  Jordan E. Pincus⁶  Celine A. Saulnier⁷  Elaine F. Walker⁸ 

[1] Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, USA;Center for Advanced Biotechnology and Medicine, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ, USA;Department of Psychiatry, Robert Wood Johnson Medical School, Rutgers University, 679 Hoes Lane West, 08854, Piscataway, NJ, USA;Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA;Department of Psychiatry and Behavioral Science, School of Medicine, Emory University, Atlanta, GA, USA;Department of Pediatrics, School of Medicine, Emory University, Atlanta, GA, USA;Department of Pediatrics, School of Medicine, Emory University, Atlanta, GA, USA;Marcus Autism Center, Children’s Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA;Department of Pediatrics, School of Medicine, Emory University, Atlanta, GA, USA;Marcus Autism Center, Children’s Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA, USA;Clinical Psychology, College of Arts and Sciences, Georgia State University, Atlanta, GA, USA;Department of Pediatrics, School of Medicine, Emory University, Atlanta, GA, USA;Neurodevelopmental Assessment and Consulting Services, Decatur, GA, USA;Department of Psychology, Emory University, Atlanta, GA, USA;

关键词: 3q29 deletion;    Autism;    Copy number variants;    Developmental delay;    Genomic disorder;    Psychiatric genetics;    ADOS-2;    ADI-R;   

DOI  :  10.1186/s13229-022-00533-2

 received in 2022-09-15, accepted in 2022-12-11,  发布年份 2022

来源: Springer

【 摘 要 】

BackgroundThe 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.MethodsThirty-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.ResultsSubjects 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.LimitationsThere 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.Conclusions3q29del 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.

【 授权许可】

CC BY   
© The Author(s) 2022

【 图 表 】

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Fig. 2