Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review.
C Wolfenden, A Wittkowski, D J Hare
PMID 28856504WHAT IT FOUND
In 16 studies of 620 people with Sanfilippo syndrome, speech, language and social problems were consistently reported.
Only two studies used standard autism assessments; 13 of 21 and 9 of 10 participants met autism diagnostic criteria.
Key findings
01Speech, language and communication difficulties were reported in all 16 included studies, and nine studies made explicit reference to this as a feature of ASD.
02Only two studies used a standard autism assessment tool; in those studies, 13 of 21 children with MPS IIIA and 9 of 10 participants with MPS IIIB met autism diagnostic criteria.
03Seven studies reported initial misdiagnosis, including ASD, ADHD, acquired language disorder and intellectual disability, and seven studies reported late diagnosis of MPS III.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
Seven studies were case reports, and many included studies had small sample sizes. Only two studies used a standard autism assessment tool, so formal ASD diagnosis was assessed in only a small part of the evidence. The included studies varied in how behaviours were assessed, and several relied only on parent or clinician impression. The quality tool did not assess bias, and the authors said their adjusted quality scores should be viewed with caution. The studies did not explicitly report intellectual functioning, which matters when assessing ASD. No study reported service-user involvement in design.
The easy way to misread this
Do not read the 13 of 21 and 9 of 10 results as how common autism is in Sanfilippo syndrome. They came from only two studies, and the review included 16 studies with varied methods and small samples.