Management of CLN1 Disease : International Clinical Consensus

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Augustine , E F , Adams , H R , de los Reyes , E , Drago , K , Frazier , M , Guelbert , N , Laine , M , Levin , T , Mink , J W , Nickel , M , Peifer , D , Schulz , A , Simonati , A , Topcu , M , Turunen , J A , Williams , R , Wirrell , E C & King , S 2021 , ' Management of CLN1 Disease : International Clinical Consensus ' , Pediatric Neurology , vol. 120 , pp. 38-51 . https://doi.org/10.1016/j.pediatrneurol.2021.04.002

Title: Management of CLN1 Disease : International Clinical Consensus
Author: Augustine, Erika F.; Adams, Heather R.; de los Reyes, Emily; Drago, Kristen; Frazier, Margie; Guelbert, Norberto; Laine, Minna; Levin, Tanya; Mink, Jonathan W.; Nickel, Miriam; Peifer, Danielle; Schulz, Angela; Simonati, Alessandro; Topcu, Meral; Turunen, Joni A.; Williams, Ruth; Wirrell, Elaine C.; King, Sharon
Contributor: University of Helsinki, HUS Children and Adolescents
University of Helsinki, Clinicum
Date: 2021-07
Language: eng
Number of pages: 14
Belongs to series: Pediatric Neurology
ISSN: 0887-8994
URI: http://hdl.handle.net/10138/333800
Abstract: 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/).
Subject: Infantile neuronal ceroid lipofuscinosis
Clinical care
Rare disease
Palmitoyl-protein thioesterase 1
PPT1
Drug-resistant epilepsy
Lysosomal storage disease
Palliative care
NEURONAL CEROID-LIPOFUSCINOSIS
PROTEIN THIOESTERASE DEFICIENCY
STEM-CELL TRANSPLANTATION
INFANTILE TYPE
SLEEP DISORDERS
CHILDREN
MUTATIONS
BRAIN
GENE
FORMS
3112 Neurosciences
3124 Neurology and psychiatry
3123 Gynaecology and paediatrics
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