Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA

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

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.

Publication types

  • Clinical Trial
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Age Factors
  • Age of Onset
  • Child
  • Child Development Disorders, Pervasive / diagnosis*
  • Child Development Disorders, Pervasive / epidemiology
  • Child Development Disorders, Pervasive / etiology
  • Child, Preschool
  • Disease Progression
  • Female
  • Humans
  • Incidence
  • Male
  • Mucopolysaccharidosis III / complications*
  • Psychological Tests

Associated data

  • ClinicalTrials.gov/NCT01047306