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J Pediatr. 2014 May;164(5):1147-1151.e1. doi: 10.1016/j.jpeds.2014.01.007. Epub 2014 Feb 25.

Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA.

Author information

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.

TRIAL REGISTRATION:

ClinicalTrials.gov NCT01047306.

PMID:
24582005
PMCID:
PMC4041612
DOI:
10.1016/j.jpeds.2014.01.007
[Indexed for MEDLINE]
Free PMC Article
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