Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

Journal of Neurodevelopmental Disorders

Craig M. Powell¹  Erin Carmody²  Kush Kapur²  Siddharth Srivastava²  Rajna Filip-Dhima²  Mustafa Sahin³  Elizabeth Berry-Kravis⁴  Jonathan A. Bernstein⁵  Latha Soorya⁶  Emma Condy⁷  Audrey Thurm⁷  Alexander Kolevzon⁸  Joseph D. Buxbaum⁹ 

[1] Department of Neurobiology, University of Alabama at Birmingham School of Medicine, Birmingham, AL, USA;Civitan International Research Center, University of Alabama at Birmingham, Birmingham, AL, USA;Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA;Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA;F.M. Kirby Neurobiology Center, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA;Department of Pediatrics, Rush University Medical Center, Chicago, IL, USA;Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA;Department of Biochemistry, Rush University Medical Center, Chicago, IL, USA;Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA;Department of Psychiatry, Rush University Medical Center, Chicago, IL, USA;Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA;Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, NY, USA;Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA;Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, New York, NY, USA;Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA;Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY, USA;Department of Neuroscience, Mount Sinai School of Medicine, New York, NY, USA;

关键词: SHANK3;    Intellectual disability;    22q13 deletion;    Repetitive behavior;    Stereotypy;    Autism;   

DOI  :  10.1186/s11689-021-09398-7

来源: Springer

【 摘 要 】

BackgroundPhelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of repetitive behaviors within the context of ID seen with the condition.MethodsIndividuals age 3–21 years with a confirmed PMS diagnosis participated in a multicenter observational study evaluating the phenotype and natural history of the disorder. We evaluated data collected from this study pertaining to repetitive behaviors from the Repetitive Behavior Scales-Revised (RBS-R).ResultsThere were n = 90 participants who were part of this analysis. Forty-seven percent (n = 42/90) were female, and the average age at baseline evaluation was 8.88 ± 4.72 years. The mean best estimate IQ of the cohort was 26.08 ± 17.67 (range = 3.4–88), with n = 8 with mild ID (or no ID), n = 20 with moderate ID, and n = 62 with severe-profound ID. The RBS-R total overall score was 16.46 ± 13.9 (compared to 33.14 ± 20.60 reported in previous studies of ASD) (Lam and Aman, 2007), and the total number of items endorsed was 10.40 ± 6.81 (range = 0–29). After statistical correction for multiple comparisons, IQ correlated with the RBS-R stereotypic behavior subscale score (rs = − 0.33, unadjusted p = 0.0014, adjusted p = 0.01) and RBS-R stereotypic behavior total number of endorsed items (rs = − 0.32, unadjusted p = 0.0019, adjusted p = 0.01). IQ did not correlate with any other RBS-R subscale scores.ConclusionsThe RBS-R total overall score in a PMS cohort appears milder compared to individuals with ASD characterized in previous studies. Stereotypic behavior in PMS may reflect cognitive functioning.

【 授权许可】

CC BY