Cargando…

Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment

INTRODUCTION: Sanfilippo syndrome (MPS III) is a rare, degenerative condition characterized by symptoms impacting cognitive ability, mobility, behavior, and quality of life. Currently there are no approved therapies for this severe life-limiting disease. Integrating patient and caregiver experience...

Descripción completa

Detalles Bibliográficos
Autores principales:	Porter, Katherine Ackerman, O’Neill, Cara, Drake, Elise, Parker, Samantha, Escolar, Maria L., Montgomery, Stacey, Moon, William, Worrall, Carolyn, Peay, Holly L.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Healthcare 2020
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8139994/ https://www.ncbi.nlm.nih.gov/pubmed/33263924 http://dx.doi.org/10.1007/s40120-020-00226-z

Ejemplares similares

Caregivers' assessment of meaningful and relevant clinical outcome assessments for Sanfilippo syndrome
por: Porter, Katherine Ackerman, et al.
Publicado: (2022)

Sanfilippo syndrome: consensus guidelines for clinical care
por: Muschol, Nicole, et al.
Publicado: (2022)

Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data
por: Shapiro, Elsa, et al.
Publicado: (2019)

Mortality in patients with Sanfilippo syndrome
por: Lavery, Christine, et al.
Publicado: (2017)

Natural history of Sanfilippo syndrome in Spain
por: Delgadillo, Verónica, et al.
Publicado: (2013)

Sanfilippo syndrome: causes, consequences, and treatments
por: Fedele, Anthony O
Publicado: (2015)

Preparing newborn screening for the future: a collaborative stakeholder engagement exploring challenges and opportunities to modernizing the newborn screening system
por: Andrews, Sara M., et al.
Publicado: (2022)

How close are we to therapies for Sanfilippo disease?
por: Gaffke, Lidia, et al.
Publicado: (2017)

Is the eye a window to the brain in Sanfilippo syndrome?
por: Beard, Helen, et al.
Publicado: (2020)

Economic Burden of Sanfilippo Syndrome in the United States
por: Ashby, Frederick, et al.
Publicado: (2023)

Reply to Sanfilippo et al. and to Caviedes et al.
por: Arachchillage, Deepa J., et al.
Publicado: (2021)

Sanfilippo Syndrome: Optimizing Care with a Multidisciplinary Approach
por: Cyske, Zuzanna, et al.
Publicado: (2022)

Biochemical diagnosis of Sanfilippo disorder types A and B
por: Nosier, Soha S., et al.
Publicado: (2023)

Sanfilippo syndrome registry project and natural history studies: an example of patients, parents and researchers collaborating for a cure
por: Wood, Jill, et al.
Publicado: (2014)

Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease
por: Heon-Roberts, Rachel, et al.
Publicado: (2020)

Unmet Needs of Parents of Children with Urea Cycle Disorders
por: Scharping, Mara, et al.
Publicado: (2022)

Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice
por: Dwyer, Chrissa A., et al.
Publicado: (2017)

Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome
por: Fernández-Hernández, Liliana, et al.
Publicado: (2022)

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
por: Valstar, Marlies J, et al.
Publicado: (2011)

Epidemiology of Sanfilippo syndrome: results of a systematic literature review
por: Zelei, Tamás, et al.
Publicado: (2018)

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
por: Muschol, Nicole M., et al.
Publicado: (2019)

Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches
por: Benetó, Noelia, et al.
Publicado: (2020)

A case report of Sanfilippo syndrome – the long way to diagnosis
por: Lorenz, Delia, et al.
Publicado: (2022)

An immune deficient mouse model for mucopolysaccharidosis IIIA (Sanfilippo syndrome)
por: Pollock, Kari, et al.
Publicado: (2023)

Adaptation to bipolar disorder and perceived risk to children: a survey of parents with bipolar disorder
por: Peay, Holly L, et al.
Publicado: (2013)

Neurological, neurobehavioral, and radiological alterations in patients with mucopolysaccharidosis III (Sanfilippo's syndrome) in Brazil
por: do Valle, Daniel Almeida, et al.
Publicado: (2022)

The Unmet Needs of Parents of Highly Dependent Children with Cerebral Palsy
por: Mohd Nordin, Nor Azlin, et al.
Publicado: (2019)

Expert Evaluation of Strategies to Modernize Newborn Screening in the United States
por: Bailey, Donald B., et al.
Publicado: (2021)

Incorporating Method Dissatisfaction into Unmet Need for Contraception: Implications for Measurement and Impact
por: Rothschild, Claire W., et al.
Publicado: (2021)

N-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome
por: De Pasquale, Valeria, et al.
Publicado: (2023)

Femoral Structure and Biomechanical Characteristics in Sanfilippo Syndrome Type-B Mice
por: Ashby, Frederick James, et al.
Publicado: (2023)

Association between unmet social needs and healthy lifestyle parenting behaviors
por: Egan, Kelsey A., et al.
Publicado: (2023)

Delayed speech, hyperactivity, and coarse facies: Does Sanfilippo syndrome come to mind?
por: Kartal, Ayşe
Publicado: (2016)

Challenges in the treatment of neurodevelopmental disorder: Sanfilippo syndrome – a multimodal treatment approach.
por: Priya S, Sasi, et al.
Publicado: (2022)

Abstract for E- poster Mucopolysaccharidosis III (Sanfilippo Syndrome) with severe behavioural problems
Publicado: (2022)

Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation
por: Tillo, Miguel, et al.
Publicado: (2022)

Unmet Needs for Care and Medications, Cost as a Reason for Unmet Needs, and Unmet Needs as a Big Problem, due to Health-Care Provider (Dis)Continuity
por: Stransky, Michelle L
Publicado: (2018)

A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome)
por: Ugrinov, Krastyu G., et al.
Publicado: (2015)

Development of Sensory, Motor and Behavioral Deficits in the Murine Model of Sanfilippo Syndrome Type B
por: Heldermon, Coy D., et al.
Publicado: (2007)

Music therapy and Sanfilippo syndrome: an analysis of psychological and physiological variables of three case studies
por: Pérez-Núñez, P., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_st3us0s76me9u1u57e89dsmval