ArticleOrphanet journal of rare diseases2019
Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- The psychosocial impact of childhood dementia on children and their parents: a systematic review.Orphanet journal of rare diseases · 2023Pooled it
- A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder.Journal of inherited metabolic disease · 2022Pooled it
- Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.Molecular genetics and metabolism reports · 2025Article
- AppER: Design and Validation of a Mobile Application for Caregivers of Patients with Duchenne Muscular Dystrophy and Their Families in Spain and Latin America.Muscles (Basel, Switzerland) · 2025Article
- Heparan sulfate binding protein treatment ameliorates neuropathology and behavioral abnormalities in mucopolysaccharidosis IIIB mice.Cell death discovery · 2025Article
- Experiences of quality of life and access to health services among rare disease caregivers: a scoping review.Orphanet journal of rare diseases · 2024Article
- Behaviours and psychological symptoms of childhood dementia: two cases of psychosocial interventions.Palliative care and social practice · 2024Article
- Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challenges.JIMD reports · 2023Article
- Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.Orphanet journal of rare diseases · 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
- Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.Frontiers in cardiovascular medicine · 2022Review
- Evaluating psychosocial stressors in families of children with inborn errors of metabolism.Molecular genetics and metabolism reports · 2021Article
- Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment.Neurology and therapy · 2021Article
- Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study.Orphanet journal of rare diseases · 2021Article
- Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome.Molecular genetics and metabolism reports · 2020Article
- The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome.Molecular genetics and metabolism reports · 2020Article
- Pathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey.Orphanet journal of rare diseases · 2019Article
- Issues of COVID-19-related distance learning for children with neuronopathic mucopolysaccharidoses.Molecular genetics and metabolismArticle
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Authors and funding
6 authors at 5 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSanfilippo syndrome type B (Sanfilippo B) belongs to a group of rare lysosomal storage diseases characterized by progressive cognitive decline from an early age, acute hyperactivity, and concomitant somatic symptoms. Caregivers face a unique set of challenges related to the complex nature of Sanfilippo B, but the burden and impact on quality of life (QoL) of caregivers is poorly defined and best practice guidance for clinicians is lacking.
methodsAn international clinical advisors meeting was convened to discuss key aspects of caregiver burden associated with Sanfilippo B based on findings from qualitative and quantitative research undertaken to identify and quantify the nature and impact of the disease on patients and caregivers.
resultsProviding care for patients with Sanfilippo B impinges on all aspects of family life, evolving as the patient ages and the disease progresses. Important factors contributing toward caregiver burden include sleep disturbances, impulsive and hyperactive behavior, and communication difficulties. Caregiver burden remained high throughout the life of the patient and, coupled with the physical burden of daily care, had a cumulative impact that generated significant psychological stress.
conclusionA Sanfilippo-specific QoL questionnaire is needed that is directed at caregiver needs and burden and best practice management of these domains.
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