ArticleMolecular genetics and metabolism reports2020
The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 citations in OpenAlex.
- The psychosocial impact of childhood dementia on children and their parents: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II.Orphanet journal of rare diseases · 2024Trial
- A North Carolina newborn screening pilot for mucopolysaccharidosis II: Evaluating endogenous nonreducing end glycosaminoglycan analysis and IDS sequencing as higher-tier testing options.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Defining Bayley Scales of Infant and Toddler Development Third Edition (BSITD-III) meaningful change and item relevance in children with neuronopathic MPS II: a caregiver interview-based study.Orphanet journal of rare diseases · 2026Article
- The Polytrauma Clinical Triad Among Women with a History of Intimate Partner Violence.Journal of neurotrauma · 2025Article
- Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Review
- Mucopolysaccharidosis type II zebrafish model exhibits early impaired proteasomal-mediated degradation of the axon guidance receptor Dcc.Cell death & disease · 2024Article
- Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan.Orphanet journal of rare diseases · 2024Article
- Case Report: Holistic dental care for a child with Hunter syndrome: Addressing dental ramifications, overcoming challenges, and enhancing quality of life.F1000Research · 2024Article
- Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.Orphanet journal of rare diseases · 2023Observational
- iPS-derived neural stem cells for disease modeling and evaluation of therapeutics for mucopolysaccharidosis type II.Experimental cell research · 2022Article
- 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
- Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II.Orphanet journal of rare diseases · 2021Observational
- Iduronate-2-sulfatase transport vehicle rescues behavioral and skeletal phenotypes in a mouse model of Hunter syndrome.JCI insight · 2021Article
- Differences in MPS I and MPS II Disease Manifestations.International journal of molecular sciences · 2021Review
- Evaluating strategies to manage and endure challenging behaviors in mucopolysaccharidoses.Orphanet journal of rare diseases · 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
- Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.Cells · 2020Review
- Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome.Molecular genetics and metabolism reports · 2020Article
- Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome.Molecular genetics and metabolism reports · 2020Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
In neuronopathic Hunter syndrome, neurobehavioral symptoms are known to be serious but have been incompletely described. While families face significant stress stemming from this complex and far-reaching array of symptoms, neither caregiver burden nor the neurobehavioral symptoms have been measured comprehensively. We delineated these neurobehavioral characteristics and their impact on the caregiver using multiple approaches. Methods: As part of the initial phase of developing a Hunter-specific behavioral assessment tool, we used multiple methods to obtain data on patient behaviors and caregiver burden, with the intention of drafting item sets for the tool. We utilized 1) caregiver descriptions from focus groups and individual interviews, 2) observations from video-recorded play of affected children, 3) descriptions from historic chart review, 4) consultation with patient advocacy groups and international experts, 5) reports from a caregiver advisory board, and 6) literature review. Results: Neurobehavioral symptoms were diverse and categorized as focus/attention, impulsivity/heightened activity, sensation seeking, emotional/behavioral function, social interaction, and sleep. A significant reported challenge was susceptibility to misinterpretation of some behaviors as defiant or aggressive, particularly if physical. Caregiver burden involved social isolation, exhaustion, stress, and financial and vocational strain. These new descriptions will aid in developing quantitative measures of change in neurobehavioral symptoms and family burden. These descriptions will be the foundation of a neurobehavioral rating scale, which is very much needed to aid in patient management and assess interventions for individuals with neuronopathic Hunter syndrome.
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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.