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Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA
Robin K Rumsey1, Kyle Rudser2, Kathleen Delaney1
1Department of Pediatrics, University of Minnesota, Minneapolis, MN.
Insights
Children with mucopolysaccharidosis type IIIA (MPS IIIA) often exhibit autism spectrum disorder (ASD)-like social behaviors, particularly after age three. Early recognition of these behaviors is crucial for diagnosing MPS IIIA.
Area of Science:
- Neurodevelopmental disorders
- Rare genetic diseases
Background:
- Mucopolysaccharidosis type IIIA (MPS IIIA) is a rare genetic disorder.
- Children with MPS IIIA can present with neurodevelopmental challenges.
Purpose of the Study:
- To evaluate autism spectrum disorder (ASD) behaviors in children with MPS IIIA.
- To understand the progression of these behaviors.
- To offer diagnostic guidance.
Main Methods:
- 21 children with MPS IIIA underwent the Autism Diagnostic Observation Schedule (ADOS) and Bayley Scales of Infant Development-Third Edition.
- ADOS Social Affect and Restricted Repetitive Behavior scores were analyzed.
- Cognitive development was assessed.
Main Results:
- 13 out of 21 children met ASD criteria on the ADOS.
- ASD behaviors were more common in children over 46 months old.
- Social and affective abnormalities were prevalent, while restricted interests were rare.
- Cognitive stagnation correlated with ADOS scores.
Conclusions:
- Early-onset MPS IIIA is associated with a higher incidence of ASD-like social behaviors around ages 3-4.
- These behaviors occur across a spectrum of cognitive impairment.
- MPS IIIA should be considered in the differential diagnosis for children developing ASD-like behaviors.
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.
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