Robin K Rumsey1, Kyle Rudser2, Kathleen Delaney3, Michael Potegal3, Chester B Whitley3, Elsa Shapiro3. 1. Department of Pediatrics, University of Minnesota, Minneapolis, MN. Electronic address: rumse002@umn.edu. 2. Division of Biostatistics, University of Minnesota, Minneapolis, MN. 3. Department of Pediatrics, University of Minnesota, Minneapolis, MN.
Abstract
OBJECTIVES: To assess autism spectrum disorder (ASD) behaviors in children with mucopolysaccharidosis type IIIA (MPS IIIA) using a standard measure, understand the behavioral evolution of the disease, and provide specific guidelines for diagnosis. STUDY DESIGN: Children (n = 21) with documented enzyme deficiency and SGSH gene mutations, cognitive age-equivalent >12 months, and early onset were administered the Autism Diagnostic Observation Schedule (ADOS) (module 1) and Bayley Scales of Infant Development-Third Edition. ADOS Social Affect and Restricted Repetitive Behavior total scores, as well as Bayley Scales of Infant Development-Third Edition cognitive age-equivalent scores, are reported using descriptive statistics and graphic presentations. RESULTS: Thirteen of the 21 children evaluated met the ADOS criteria for ASD/autism. ADOS score was strongly associated with age; all 11 children aged >46 months met the criteria, compared with only 2 of 10 aged <46 months. Social and affective abnormalities were most frequent; restricted interests and repetitive behaviors were largely absent. Lack of cognitive growth paralleled ADOS score. CONCLUSION: An increased incidence of ASD-like social behaviors was seen at age 3-4 years in children with early-onset MPS IIIA. Although more frequent in the severely impaired children, ASD-like behaviors were observed across the entire range of cognitive impairment. Clinicians must be aware that when a child acquires ASD-like behaviors, MPS IIIA should be included in the differential diagnosis.
OBJECTIVES: To assess autism spectrum disorder (ASD) behaviors in children with mucopolysaccharidosis type IIIA (MPS IIIA) using a standard measure, understand the behavioral evolution of the disease, and provide specific guidelines for diagnosis. STUDY DESIGN:Children (n = 21) with documented enzyme deficiency and SGSH gene mutations, cognitive age-equivalent >12 months, and early onset were administered the Autism Diagnostic Observation Schedule (ADOS) (module 1) and Bayley Scales of Infant Development-Third Edition. ADOS Social Affect and Restricted Repetitive Behavior total scores, as well as Bayley Scales of Infant Development-Third Edition cognitive age-equivalent scores, are reported using descriptive statistics and graphic presentations. RESULTS: Thirteen of the 21 children evaluated met the ADOS criteria for ASD/autism. ADOS score was strongly associated with age; all 11 children aged >46 months met the criteria, compared with only 2 of 10 aged <46 months. Social and affective abnormalities were most frequent; restricted interests and repetitive behaviors were largely absent. Lack of cognitive growth paralleled ADOS score. CONCLUSION: An increased incidence of ASD-like social behaviors was seen at age 3-4 years in children with early-onset MPS IIIA. Although more frequent in the severely impaired children, ASD-like behaviors were observed across the entire range of cognitive impairment. Clinicians must be aware that when a child acquires ASD-like behaviors, MPS IIIA should be included in the differential diagnosis.
Authors: F Baehner; C Schmiedeskamp; F Krummenauer; E Miebach; M Bajbouj; C Whybra; A Kohlschütter; C Kampmann; M Beck Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982
Authors: B J Poorthuis; R A Wevers; W J Kleijer; J E Groener; J G de Jong; S van Weely; K E Niezen-Koning; O P van Diggelen Journal: Hum Genet Date: 1999 Jul-Aug Impact factor: 4.132
Authors: Elsa G Shapiro; Igor Nestrasil; Kathleen A Delaney; Kyle Rudser; Victor Kovac; Nitin Nair; Charles W Richard; Patrick Haslett; Chester B Whitley Journal: J Pediatr Date: 2016-01-16 Impact factor: 4.406
Authors: Elsa G Shapiro; Igor Nestrasil; Alia Ahmed; Andrew Wey; Kyle R Rudser; Kathleen A Delaney; Robin K Rumsey; Patrick A J Haslett; Chester B Whitley; Michael Potegal Journal: Mol Genet Metab Date: 2015-03-05 Impact factor: 4.797
Authors: G V Coppa; O Gabrielli; L Zampini; F Maccari; V Mantovani; T Galeazzi; L Santoro; L Padella; R L Marchesiello; F Galeotti; N Volpi Journal: Metab Brain Dis Date: 2015-05-29 Impact factor: 3.584
Authors: Shih-Hsin Kan; Steven Q Le; Quang D Bui; Braeden Benedict; Jesse Cushman; Mark S Sands; Patricia I Dickson Journal: Behav Brain Res Date: 2016-06-23 Impact factor: 3.332
Authors: Elaine M Cross; Sheena Grant; Simon Jones; Brian W Bigger; James E Wraith; Louise V Mahon; Michelle Lomax; Dougal J Hare Journal: J Neurodev Disord Date: 2014-12-31 Impact factor: 4.025