Trial reportMolecular genetics and metabolism2015
Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.
Trial report in Molecular genetics and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01870375 (Longitudinal Studies of Brain Structure and Function in MPS Disorders), which is not on this map. Cited by 26 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
The trial behind it
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.
Longitudinal Studies of Brain Structure and Function in MPS Disorders
Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 50 citations in OpenAlex.
- The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II).International journal of environmental research and public health · 2020Pooled it
- Longitudinal Assessment of Cognitive Development in 23 Patients With Mucopolysaccharidosis (MPS) Type II: Results of up to 14 Years of Follow-Up.Journal of inherited metabolic disease · 2026Article
- Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management Consensus.Healthcare (Basel, Switzerland) · 2026Article
- Disturbances in mitochondrial quality control and mitochondria-lysosome contact underlie the cerebral cortex and heart damage of mucopolysaccharidosis type II mice.Metabolic brain disease · 2025Article
- Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.Journal of inherited metabolic disease · 2025Article
- Body size and intracranial volume interact with the structure of the central nervous system: A multi-center in vivo neuroimaging study.Imaging neuroscience (Cambridge, Mass.) · 2025Article
- Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Review
- Multisystem Involvement in a Pediatric Patient With Suspected Mucopolysaccharidosis: A Case Report.Cureus · 2024Article
- Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know.Diagnostics (Basel, Switzerland) · 2022Review
- Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair.Molecular genetics and metabolism reports · 2022Article
- Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I.Molecular genetics and metabolism · 2022Article
- Impact of the Timing of Enzyme Replacement Therapy Initiation and Cognitive Impairment Status on Outcomes for Patients with Mucopolysaccharidosis II (MPS II) in the United States: A Retrospective Chart Review.Journal of health economics and outcomes research · 2022Article
- Differences in MPS I and MPS II Disease Manifestations.International journal of molecular sciences · 2021Review
- Can serial cerebral MRIs predict the neuronopathic phenotype of MPS II?Journal of inherited metabolic disease · 2021Article
- Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase.Molecular genetics and metabolism reports · 2020Article
- The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome.Molecular genetics and metabolism reports · 2020Article
- An online survey of burden of illness in families with mucopolysaccharidosis type II children in the United States.Molecular genetics and metabolism reports · 2019Article
- Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I.Neurology · 2019Article
- Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.Italian journal of pediatrics · 2018Review
- Clinical hints to diagnosis of attenuated forms of 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
16 authors at 6 institutions in 2 countries.
Funding
Abstract
unlabelledThe phenotype of attenuated mucopolysaccharidosis type II (MPS II), also called Hunter syndrome, has not been previously studied in systematic manner. In contrast to the "severe" phenotype, the "attenuated" phenotype does not present with behavioral or cognitive impairment; however, the presence of mild behavior and cognitive impairment that might impact long-term functional outcomes is unknown. Previously, significant MRI abnormalities have been found in MPS II. Recent evidence suggests white matter abnormalities in many MPS disorders.
methodsAs the initial cross-sectional analysis of a longitudinal study, we studied the association of brain volumes and somatic disease burden with neuropsychological outcomes, including measures of intelligence, memory, and attention in 20 patients with attenuated MPS II with a mean age of 15.8. MRI volumes were compared to 55 normal controls.
resultsWhile IQ and memory were average, measures of attention were one standard deviation below the average range. Corpus callosum volumes were significantly different from age-matched controls, differing by 22%. Normal age-related volume increases in white matter were not seen in MPS II patients as they were in controls. Somatic disease burden and white matter and corpus callosum volumes were significantly associated with attention deficits. Neither age at evaluation nor age at starting treatment predicted attention outcomes.
conclusionsDespite average intelligence, attention is compromised in attenuated MPS II. Results confirm an important role of corpus callosum and cortical white matter abnormality in MPS II as well as the somatic disease burden in contributing to attention difficulties. Awareness by the patient and caregivers with appropriate management and symptomatic support will benefit the attenuated MPS II patient.
Indexed as
Identifiers
What OpenQuestion holds
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.