Management of CLN1 Disease: International Clinical Consensus

Autor: Joni A. Turunen, Ruth Williams, Margie Frazier, Emily de los Reyes, Kristen Drago, Minna Laine, Sharon King, Elaine C. Wirrell, Tanya Levin, Heather R. Adams, Angela Schulz, Alessandro Simonati, Jonathan W. Mink, Norberto Guelbert, Danielle Peifer, Meral Topçu, Erika F. Augustine, Miriam Nickel
Přispěvatelé: HUS Children and Adolescents, Lastenneurologian yksikkö, University of Helsinki, Clinicum, HUS Head and Neck Center, Silmäklinikka
Rok vydání: 2020
Předmět:
Movement disorders
Palliative care
Clinical care
Drug-resistant epilepsy
Lysosomal storage disease
CHILDREN
Disease
FORMS
3124 Neurology and psychiatry
0302 clinical medicine
Multidisciplinary approach
3123 Gynaecology and paediatrics
BRAIN
Child
Palliative Care
3. Good health
Phenotype
Neurology
Caregivers
Child
Preschool
Practice Guidelines as Topic
Disease Progression
medicine.symptom
Palmitoyl-protein thioesterase 1
SLEEP DISORDERS
medicine.medical_specialty
Consensus
Adolescent
Visual impairment
Infantile neuronal ceroid lipofuscinosis
03 medical and health sciences
PPT1
Quality of life (healthcare)
Rare Diseases
Developmental Neuroscience
Neuronal Ceroid-Lipofuscinoses
Stakeholder Participation
030225 pediatrics
medicine
Humans
business.industry
MUTATIONS
3112 Neurosciences
Infant
Membrane Proteins
STEM-CELL TRANSPLANTATION
INFANTILE TYPE
NEURONAL CEROID-LIPOFUSCINOSIS
PROTEIN THIOESTERASE DEFICIENCY
medicine.disease
GENE
Family medicine
Pediatrics
Perinatology and Child Health
Neurology (clinical)
Thiolester Hydrolases
business
Rare disease
030217 neurology & neurosurgery
Zdroj: Pediatric neurology. 120
ISSN: 1873-5150
Popis: Background: CLN1 disease (neuronal ceroid lipofuscinosis type 1) is a rare, genetic, neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase 1 (PPT1) enzyme deficiency. Clinical features include developmental delay, psychomotor regression, seizures, ataxia, movement disorders, visual impairment, and early death. In general, the later the age at symptom onset, the more protracted & nbsp;Pediatric Neurology 120 (2021) 38e51 the disease course. We sought to evaluate current evidence and to develop expert practice consensus to support clinicians who have not previously encountered patients with this rare disease. Methods: We searched the literature for guidelines and evidence to support clinical practice recommendations. We surveyed CLN1 disease experts and caregivers regarding their experiences and recommendations, and a meeting of experts was conducted to ascertain points of consensus and clinical practice differences. Results: We found a limited evidence base for treatment and no clinical management guidelines specific to CLN1 disease. Fifteen CLN1 disease experts and 39 caregivers responded to the surveys, and 14 experts met to develop consensus-based recommendations. The resulting management recommendations are uniquely informed by family perspectives, due to the inclusion of caregiver and advocate perspectives. A family-centered approach is supported, and individualized, multidisciplinary care is emphasized in the recommendations. Ascertainment of the specific CLN1 disease phenotype (infantile-, late infantile-, juvenile-, or adult-onset) is of key importance in informing the anticipated clinical course, prognosis, and care needs. Goals and strategies should be periodically reevaluated and adapted to patients' current needs, with a primary aim of optimizing patient and family quality of life. (c) 2021 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Databáze: OpenAIRE
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