Management of CLN1 Disease: International Clinical Consensus.

Autor: Augustine EF; Department of Neurology and Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland; Departments of Neurology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York. Electronic address: augustinee@kennedykrieger.org., Adams HR; Departments of Neurology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York., de Los Reyes E; Department of Pediatrics and Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio., Drago K; Hospice Consultant, Lake Zurich, Illinois., Frazier M; Rare Disease Advocate and Consultant, Columbus, Ohio., Guelbert N; Metabolic Diseases Section, Children's Hospital of Cordoba, Cordoba, Argentina., Laine M; Department of Pediatric Neurology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Levin T; Medical Writing Consultant, Atlanta, Georgia., Mink JW; Departments of Neurology, Neuroscience, and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York., Nickel M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Peifer D; Nationwide Children's Hospital, Columbus, Ohio., Schulz A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Simonati A; Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona School of Medicine, Verona, Italy., Topcu M; Professor Emeritus, Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey., Turunen JA; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Williams R; Children's Neurosciences Centre, Evelina London Children's Hospital, London, United Kingdom., Wirrell EC; Divisions of Epilepsy and Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, Minnesota., King S; Taylor's Tale, Charlotte, North Carolina.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2021 Jul; Vol. 120, pp. 38-51. Date of Electronic Publication: 2021 Apr 09.
DOI: 10.1016/j.pediatrneurol.2021.04.002
Abstrakt: 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 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.
(Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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