Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review

The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examin...

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Bibliographic Details
Published in:Journal of autism and developmental disorders 2017-11, Vol.47 (11), p.3620-3633
Main Authors: Wolfenden, C., Wittkowski, A., Hare, D. J.
Format: Article
Language:English
Subjects:
Adolescent
Adult
Autism
Autism Spectrum Disorder - diagnosis
Autism Spectrum Disorder - epidemiology
Behavior Disorders
Behavioral Science and Psychology
Child
Child and School Psychology
Child Development
Clinical Diagnosis
Cognitive Ability
Communication Problems
Comorbidity
Diagnostic Errors
Diagnostic Tests
Female
Genetic counseling
Genetic Disorders
Humans
Infants
Intelligence Tests
Interests
Interpersonal Competence
Language Impairments
Literature Reviews
Male
Medical diagnosis
Metabolic disorders
Middle Aged
Misdiagnosis
Mucopolysaccharidosis
Mucopolysaccharidosis III - diagnosis
Mucopolysaccharidosis III - epidemiology
Neurosciences
Observation
Original Paper
Pediatrics
Personality Measures
Pervasive Developmental Disorders
Psychology
Public Health
Repetitive behaviour
Speech
Speech Impairments
Symptoms
Symptoms (Individual Disorders)
Systematic review
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Description
Summary:The prevalence of autism spectrum disorder (ASD) in many genetic disorders is well documented but not as yet in Mucopolysaccharidosis type III (MPS III). MPS III is a recessively inherited metabolic disorder and evidence suggests that symptoms of ASD present in MPS III. This systematic review examined the extant literature on the symptoms of ASD in MPS III and quality assessed a total of 16 studies. Results indicated that difficulties within speech, language and communication consistent with ASD were present in MPS III, whilst repetitive and restricted behaviours and interests were less widely reported. The presence of ASD-like symptoms can result in late diagnosis or misdiagnosis of MPS III and prevent opportunities for genetic counselling and the provision of treatments.
ISSN:0162-3257
1573-3432
DOI:10.1007/s10803-017-3262-6