Jennifer L Stallworth1, Marisela E Dy1, Caroline B Buchanan1, Chin-Fu Chen1, Alexandra E Scott1, Daniel G Glaze1, Jane B Lane1, David N Lieberman1, Lindsay M Oberman1, Steven A Skinner1, Aubin E Tierney1, Gary R Cutter1, Alan K Percy1, Jeffrey L Neul1, Walter E Kaufmann2. 1. From the Greenwood Genetic Center (J.L.S., C.B.B., C.-F.C., A.E.S., S.A.S., A.E.T., W.E.K.), Center for Translational Research, SC; Department of Neurology (M.E.D., D.N.L.), Boston Children's Hospital, MA; Department of Pediatrics and Neurology (D.G.G.), Baylor College of Medicine, Houston, TX; Civitan International Research Center (J.B.L.), School of Public Health (G.R.C.), University of Alabama at Birmingham; Department of Psychiatry and Human Behavior (L.M.O.), E.P. Bradley Hospital, Warren Alpert Medical School of Brown University, Providence, RI; Department of Pediatrics, Division of Neurology (A.K.P.), Civitan International Research Center, University of Alabama at Birmingham; Vanderbilt Kennedy Center (J.L.N.), Vanderbilt University Medical Center, Nashville, TN; Department of Pediatrics (W.E.K.), University of South Carolina School of Medicine, Columbia; and Department of Human Genetics (W.E.K.), Emory University School of Medicine, Atlanta, GA. 2. From the Greenwood Genetic Center (J.L.S., C.B.B., C.-F.C., A.E.S., S.A.S., A.E.T., W.E.K.), Center for Translational Research, SC; Department of Neurology (M.E.D., D.N.L.), Boston Children's Hospital, MA; Department of Pediatrics and Neurology (D.G.G.), Baylor College of Medicine, Houston, TX; Civitan International Research Center (J.B.L.), School of Public Health (G.R.C.), University of Alabama at Birmingham; Department of Psychiatry and Human Behavior (L.M.O.), E.P. Bradley Hospital, Warren Alpert Medical School of Brown University, Providence, RI; Department of Pediatrics, Division of Neurology (A.K.P.), Civitan International Research Center, University of Alabama at Birmingham; Vanderbilt Kennedy Center (J.L.N.), Vanderbilt University Medical Center, Nashville, TN; Department of Pediatrics (W.E.K.), University of South Carolina School of Medicine, Columbia; and Department of Human Genetics (W.E.K.), Emory University School of Medicine, Atlanta, GA. walter.e.kaufmann@emory.edu.
Abstract
OBJECTIVE: To characterize hand stereotypies (HS) in a large cohort of participants with Rett syndrome (RTT). METHODS: Data from 1,123 girls and women enrolled in the RTT Natural History Study were gathered. Standard tests for continuous and categorical variables were used at baseline. For longitudinal data, we used repeated-measures linear and logistic regression models and nonparametric tests. RESULTS: HS were reported in 922 participants with classic RTT (100%), 73 with atypical severe RTT (97.3%), 74 with atypical mild RTT (96.1%), and 17 females with MECP2 mutations without RTT (34.7%). Individuals with RTT who had classic presentation or severe MECP2 mutations had higher frequency and earlier onset of HS. Heterogeneity of HS types was confirmed, but variety decreased over time. At baseline, almost half of the participants with RTT had hand mouthing, which like clapping/tapping, decreased over time. These 2 HS types were more frequently reported than wringing/washing. Increased HS severity (prevalence and frequency) was associated with worsened measures of hand function. Number and type of HS were not related to hand function. Overall clinical severity was worse with decreased hand function but only weakly related to any HS characteristic. While hand function decreased over time, prevalence and frequency of HS remained relatively unchanged and high. CONCLUSIONS: Nearly all individuals with RTT have severe and multiple types of HS, with mouthing and clapping/tapping decreasing over time. Interaction between HS frequency and hand function is complex. Understanding the natural history of HS in RTT could assist in clinical care and evaluation of new interventions.
OBJECTIVE: To characterize hand stereotypies (HS) in a large cohort of participants with Rett syndrome (RTT). METHODS: Data from 1,123 girls and women enrolled in the RTT Natural History Study were gathered. Standard tests for continuous and categorical variables were used at baseline. For longitudinal data, we used repeated-measures linear and logistic regression models and nonparametric tests. RESULTS: HS were reported in 922 participants with classic RTT (100%), 73 with atypical severe RTT (97.3%), 74 with atypical mild RTT (96.1%), and 17 females with MECP2 mutations without RTT (34.7%). Individuals with RTT who had classic presentation or severe MECP2 mutations had higher frequency and earlier onset of HS. Heterogeneity of HS types was confirmed, but variety decreased over time. At baseline, almost half of the participants with RTT had hand mouthing, which like clapping/tapping, decreased over time. These 2 HS types were more frequently reported than wringing/washing. Increased HS severity (prevalence and frequency) was associated with worsened measures of hand function. Number and type of HS were not related to hand function. Overall clinical severity was worse with decreased hand function but only weakly related to any HS characteristic. While hand function decreased over time, prevalence and frequency of HS remained relatively unchanged and high. CONCLUSIONS: Nearly all individuals with RTT have severe and multiple types of HS, with mouthing and clapping/tapping decreasing over time. Interaction between HS frequency and hand function is complex. Understanding the natural history of HS in RTT could assist in clinical care and evaluation of new interventions.
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