کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6222166 | 1607455 | 2014 | 6 صفحه PDF | دانلود رایگان |
ObjectivesTo 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 designChildren (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.ResultsThirteen 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.ConclusionAn 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.
Journal: The Journal of Pediatrics - Volume 164, Issue 5, May 2014, Pages 1147-1151.e1