SynthesisJournal of autism and developmental disorders2017
Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review.
Synthesis in Journal of autism and developmental disorders, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
17 citing papers in PubMed, 44 citations in OpenAlex.
- Exploring Molecular and Phenotypic Characteristics ofMolecular syndromology · 2025Article
- D1 dopamine receptor antagonists as a new therapeutic strategy to treat autistic-like behaviours in lysosomal storage disorders.Molecular psychiatry · 2025Article
- Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies.Frontiers in public health · 2024Article
- Biochemical, Genetic and Clinical Diagnostic Approaches to Autism-Associated Inherited Metabolic Disorders.Genes · 2023Review
- Misdiagnosis in mucopolysaccharidoses.Journal of applied genetics · 2022Review
- Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil.Frontiers in neurology · 2022Article
- Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach.Journal of multidisciplinary healthcare · 2022Review
- Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies.Orphanet journal of rare diseases · 2021Article
- Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.Journal of autism and developmental disorders · 2021Article
- COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil.Genetics and molecular biology · 2021Article
- Central nervous system pathology in preclinical MPS IIIB dogs reveals progressive changes in clinically relevant brain regions.Scientific reports · 2020Article
- Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies: a cross sectional explorative study.Orphanet journal of rare diseases · 2020Review
- MUCOPOLYSACARIDOSIS TYPE IIIB MISDIAGNOSED AS AN AUTISTIC SPECTRUM DISORDER: A CASE REPORT AND LITERATURE REVIEW.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2020Article
- Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data.Orphanet journal of rare diseases · 2019Article
- Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions.Frontiers in psychiatry · 2019Review
- Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.Italian journal of pediatrics · 2018Review
- A Subset of Patients With Autism Spectrum Disorders Show a Distinctive Metabolic Profile by Dried Blood Spot Analyses.Frontiers in psychiatry · 2018Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.