Symptoms of Autism Spectrum Disorder (ASD) in individuals with Mucopolysaccaride Disease Type III (Sanfilippo Syndrome): A systematic review

Claire Wolfenden, Anja Wittkowski, Simon Jones, Stewart Rust, Dougal Hare

Research output: Contribution to journalReview articlepeer-review

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Abstract

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.
Original languageEnglish
Pages (from-to)3620-3633
Number of pages13
JournalJournal of Autism and Developmental Disorders
Volume47
Issue number11
Early online date30 Aug 2017
DOIs
Publication statusPublished - 30 Aug 2017

Keywords

  • Mucopolysacchardosis, Lysosomal storage disorder, Developmental disorder, ASD, Speech/language delay, Behavioural difficulties

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