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

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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.

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Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

Thierry Levade, Brigitte Chabrol, Helen Michelakakis … (2010)

Sanfilippo syndrome, or mucopolysaccharidosis type III (MPSIII) is a lysosomal storage disease with predominant neurological manifestations in affected children. It is considered heterogeneous with respect to prevalence, clinical presentation, biochemistry (four biochemical forms of the disease referred to as MPSIIIA, B, C, and D are known), and causative mutations. The perspective of therapeutic options emphasizes the need for better knowledge of MPSIII incidence and natural history. We performed parallel retrospective epidemiological studies of patients diagnosed with MSPIII in France (n = 128), UK (n = 126), and Greece (n = 20) from 1990 to 2006. Incidences ranged from 0.68 per 100,000 live-births in France to 1.21 per 100,000 live-births in UK. MPSIIIA, which predominates in France and UK, was absent in Greece, where most patients have MPSIIIB. The study confirmed the large allelic heterogeneity of MPSIIIA and MPSIIIB and detected several yet undescribed mutations. Analysis of clinical manifestations at diagnosis and over a 6-7 years follow-up indicated that almost all patients, whatever the disease subtype, expressed neurological manifestations before the age of 5 years, including language acquisition delay, cognitive delay, and/or abnormal behavior. In contrast to relatively homogeneous early onset manifestations, disease progression showed significant variation depending on subtype and age at diagnosis. Different severities of disease progressions and different allele distribution between France and UK suggested that mutations are not equally deleterious, although genotype-phenotype correlation could not be established. Notwithstanding the rapidity of further clinical deterioration, all MPSIII patients suffer early onset devastating neurological manifestations that deserve early treatment when available. Copyright © 2010 Wiley-Liss, Inc.

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Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

Frits Wijburg, Grzegorz Węgrzyn, Barbara K. Burton … (2013)

Mucopolysaccharidosis III is a rare genetic disease characterized by progressive cognitive decline and severe hyperactivity that does not respond to stimulants. Somatic features are relatively mild. Patients are often initially misdiagnosed as having idiopathic developmental delay, attention deficit/hyperactivity disorder and/or autism spectrum disorders, putting them at risk for unnecessary testing and treatments. Conclusion: Children with developmental or speech delay, especially those with a characteristic somatic feature or behavioural abnormalities, should be screened for MPS III.

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Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

Frits Wijburg, P Dam, R. A. Wevers … (2008)

Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). We performed a clinical study on 29 Dutch MPS IIIC patients and determined causative mutations in the recently identified HGSNAT gene. Psychomotor development was reported to be normal in all patients during the first year of life. First clinical signs were usually noted between 1 and 6 years (mean 3.5 years), and consisted of delayed psychomotor development and behavioral problems. Other symptoms included sleeping and hearing problems, recurrent infections, diarrhoea and epilepsy. Two sisters had attenuated disease and did not have symptoms until the third decade. Mean age of death was 34 years (range 25-48). Molecular analysis revealed mutations in both alleles for all patients except one. Altogether 14 different mutations were found: two splice site mutations, one frame shift mutation due to an insertion, three nonsense mutations and eight missense mutations. Two mutations, p.R344C and p.S518F, were frequent among probands of Dutch origin representing 22.0% and 29.3%, respectively, of the mutant alleles. This study demonstrates that MPS IIIC has a milder course than previously reported and that both severity and clinical course are highly variable even between sibs, complicating prediction of the clinical phenotype for individual patients. A clear phenotype-genotype correlation could not be established, except that the mutations p.G262R and p.S539C were only found in two sisters with late-onset disease and presumably convey a mild phenotype.

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A. Wittkowski: 0161 306 0401 , anja.wittkowski@manchester.ac.uk

Journal

Journal ID (nlm-ta): J Autism Dev Disord

Journal ID (iso-abbrev): J Autism Dev Disord

Title: Journal of Autism and Developmental Disorders

Publisher: Springer US (New York )

ISSN (Print): 0162-3257

ISSN (Electronic): 1573-3432

Publication date (Electronic): 30 August 2017

Publication date PMC-release: 30 August 2017

Publication date (Print): 2017

Volume: 47

Issue: 11

Pages: 3620-3633

Affiliations

[1 ]ISNI 0000000121662407, GRID grid.5379.8, Division of Psychology and Mental Health, School of Health Sciences, , The University of Manchester and Manchester Acedemic Health Science Centre, ; Oxford Road, Manchester, M13 9PL UK

[2 ]Greater Manchester Mental Health NHS Foundation Trust, Manchester, Greater Manchester UK

[3 ]ISNI 0000 0001 0807 5670, GRID grid.5600.3, School of Psychology, , Cardiff University, ; Cardiff, CF10 3AT UK

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Publisher ID: 3262

DOI: 10.1007/s10803-017-3262-6

PMC ID: 5633638

PubMed ID: 28856504

SO-VID: 258c9ad0-9f8d-45b2-81d5-443d03b67ce7

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Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

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ScienceOpen disciplines: Neurology

Keywords: mucopolysacchardosis,lysosomal storage disorder,developmental disorder,asd,speech/language delay,behavioural difficulties

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ScienceOpen disciplines: Neurology

Keywords: mucopolysacchardosis, lysosomal storage disorder, developmental disorder, asd, speech/language delay, behavioural difficulties

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

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Most cited references 34

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

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