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

  • ️Fri Jan 01 2021

Observational Study

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

Siddharth Srivastava et al. J Neurodev Disord. 2021.

Abstract

Background: Phelan 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.

Methods: Individuals 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).

Results: There 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.

Conclusions: The 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.

Keywords: 22q13 deletion; Autism; Intellectual disability; Repetitive behavior; SHANK3; Stereotypy.

© 2021. The Author(s).

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Conflict of interest statement

SS has received consulting fees from GLG, Guidepoint (which connected to a client, Fortress Biotech), Novartis, ExpertConnect. KK is currently employed by Alexion Pharmaceuticals, Inc. but completed this work while at Boston Children’s Hospital. AK receives research support from AMO Pharma and consults to Ovid Therapeutics, Acadia, and sema4. EBK has received funding from Seaside Therapeutics, Novartis, Roche, Alcobra, Neuren, Cydan, Fulcrum, GW, Neurotrope, Marinus, Zynerba, BioMarin, Ovid, Retrophin, AMO, Yamo, Acadia, Avexis, Ionis, Ultragenyx, Lumos, GeneTx, and Vtesse/Sucampo/Mallinkcrodt Pharmaceuticals to consult on trial design or development strategies and/or conduct clinical trials in FXS or other NDDs or neurodegenerative disorders, and from Asuragen Inc to develop testing standards for FMR1 testing. All funding to EBK is directed to Rush University Medical Center to support rare disease programs. EBK receives no personal funds. MS reports grant support from Novartis, Roche, Biogen, Astellas, Aeovian, Bridgebio, Aucta and Quadrant Biosciences. He has served on Scientific Advisory Boards for Roche, Celgene, Regenxbio, Alkermes, and Takeda.

Figures

Fig. 1
Fig. 1

Mean RBS-R subscales scores in this cohort compared to data from prior published cohorts. ASD = autism spectrum disorder; DD = developmental delay; TD = typically developing

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