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Published on: June 20, 2020
Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome
Siddharth Srivastava1, Kristina Johnson1, Cristan Farmer1
1Siddharth Srivastava and Kristina Johnson, Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School; Cristan Farmer, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Tess Levy, Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine and Department of Psychiatry, Icahn School of Medicine at Mount Sinai; Audrey Thurm, Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, National Institutes of Health; Latha Valluripalli Soorya, Department of Psychiatry & Behavioral Sciences, Rush University Medical Center; Rajna Filip-Dhima and Aisling Quinlan, Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School; Jonathan A. Bernstein, Department of Pediatrics, Stanford University School of Medicine; Elizabeth Berry-Kravis, Department of Pediatrics, Department of Neurological Sciences, and Department of Anatomy and Cell Biology, Rush University Medical Center; Craig M. Powell, Department of Neurobiology, University of Alabama at Birmingham Heersink School of Medicine and Civitan International Research Center, University of Alabama at Birmingham; Joseph D. Buxbaum, Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine, Department of Psychiatry, Icahn School of Medicine at Mount Sinai; Department of Genetics and Genomic Sciences and Department of Neuroscience, Mount Sinai School of Medicine; Mustafa Sahin, Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center and F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School; Alexander Kolevzon, Seaver Autism Center for Research and Treatment, Mount Sinai School of Medicine and Department of Psychiatry, Icahn School of Medicine at Mount Sinai.
Abstract:
Phelan-McDermid syndrome (PMS), caused by SHANK3 haploinsufficiency, lacks natural history data. We report the trajectory of adaptive behavior from a prospective, longitudinal, natural history study. English-speaking people aged 3-21 years with a PMS molecular diagnosis were followed over 2 years. We analyzed longitudinal Vineland Adaptive Behavior Scales, Second Edition domain-level standard scores and subdomain-level growth scale values (GSVs) obtained at baseline, 12 months, and 24 months. We assessed within-subject time effects and cross-sectional age effects using linear mixed effects models. This sample included 99 participants (baseline age = 8.83 ± 4.58 years). Within-subject standard scores decreased/remained constant for all domains: Communication (slope of within-subject mean-centered age = -0.33 [95% CI -1.08, 0.41]; p = 0.38), Socialization (-1.25 [-1.95, -0.56]; p < 0.001), and Daily Living Skills (-0.35 [-1.37, 0.67]; p = 0.50). However, subdomain GSVs showed within-subject growth across several categories. Receptive (5.26 [2.49, 8.02]; p < 0.001) and Written (2.79 [1.11, 4.47]; p = 0.001) Communication GSVs increased. Personal (1.84 [0.81, 2.86]; p < 0.001) and Domestic (2.31 [0.98, 3.64]; p < 0.001) Daily Living Skills GSVs increased. Socialization subdomain GSVs did not change. PMS is characterized by impaired adaptive behavior and slow, small gains in communication and daily living, but not socialization skills, as measured by subdomain GSVs. Unlike standard scores, measuring performance compared to same-age peers, GSVs quantify an individual's progress, emphasizing the need for GSVs in interpreting developmental changes in PMS.
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