SynthesisJournal of inherited metabolic disease2013
Behavioural phenotypes of the mucopolysaccharide disorders: a systematic literature review of cognitive, motor, social, linguistic and behavioural presentation in the MPS disorders.
Synthesis in Journal of inherited metabolic disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 3 of them syntheses that pooled it.
What it found
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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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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 3 syntheses or guidelines pooled it, 62 citations in OpenAlex.
- The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.European journal of medical research · 2024Pooled it
- The use of eye-tracking technology as a tool to evaluate social cognition in people with an intellectual disability: a systematic review and meta-analysis.Journal of neurodevelopmental disorders · 2023Pooled it
- Pooled it
- Drug screen and machine learning predict neuroprotective agents in a preclinical human model of childhood dementia.Nature communications · 2026Article
- Modelling synaptic dysfunction in childhood dementia using human iPSC-derived cortical networks.Nature communications · 2026Article
- TFEB, FOXO3 and TLR4 in resveratrol-induced autophagy in a mucopolysaccharidosis IIIB mouse model.Experimental & molecular medicine · 2026Article
- A Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.Iranian journal of pathology · 2026Article
- Heparan sulfate binding protein treatment ameliorates neuropathology and behavioral abnormalities in mucopolysaccharidosis IIIB mice.Cell death discovery · 2025Article
- Behavioural disorders and sleep problems in Sanfilippo syndrome: overlaps with some other conditions and importance indications.European child & adolescent psychiatry · 2025Review
- Sanfilippo syndrome: consensus guidelines for clinical care.Orphanet journal of rare diseases · 2022Review
- Caregivers' assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome.Journal of patient-reported outcomes · 2022Article
- Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach.Journal of multidisciplinary healthcare · 2022Review
- Differences in MPS I and MPS II Disease Manifestations.International journal of molecular sciences · 2021Review
- Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment.Neurology and therapy · 2021Article
- Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies: a cross sectional explorative study.Orphanet journal of rare diseases · 2020Review
- The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome.Molecular genetics and metabolism reports · 2020Article
- Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory.Animals : an open access journal from MDPI · 2020Article
- A Cure for Sanfilippo Syndrome? A Summary of Current Therapeutic Approaches and their Promise.Medical research archives · 2020Article
- Successful spinal anesthesia in a patient with mucopolysaccharidosis type I under femoral fracture reduction and external fixation.Pediatric investigation · 2019Article
- Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.Italian journal of pediatrics · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe mucopolysaccharide disorders (MPS) are a group of recessively inherited metabolic disorders resulting in progressive physical and cognitive decline. MATERIALS AND
methodsMEDLINE, PsycINFO and Embase databases were searched, alongside manual screening, to identify relevant literature. Papers were included in the review if they were published in a peer reviewed journal and conducted empirical research into cognitive, motor, social or linguistic development or behaviour in one or more MPS disorders.
resultsTwenty-five papers were reviewed. Two papers used methodology of a sufficiently high standard to demonstrate a behavioural phenotype; both found sleep disturbance to be part of the phenotype of MPS III. Fearfulness and sleep disturbance were frequently observed in people with MPS I and II. Cognitive and motor impairment and decline, and challenging behaviour were highly prevalent in the severe form of MPS II. Cognitive decline and severe behavioural problems relating to aggression, hyperactivity, orality, unusual affect and temper tantrums were seen in MPS III.
conclusionsSleep disturbance is part of the behavioural phenotype of MPS III, and challenging behaviour is highly prevalent in MPS II and MPS III, therefore the efficacy of behavioural interventions for these populations should be investigated. Further research into the behaviour and adaptive skills of children with MPS III and MPS IV is required.
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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.