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Management Strategies For Cln2 Disease

Authors :
Williams, Ruth E.
Adams, Heather R.
Blohm, Martin
Cohen-Pfeffer, Jessica L.
de los Reyes, Emily
Denecke, Jonas
Drago, Kristen
Fairhurst, Charlie
Frazier, Margie
Guelbert, Norberto
Kiss, Szilard
Kofler, Annamaria
Lawson, John A.
Lehwald, Lenora
Leung, Mary-Anne
Mikhaylova, Svetlana
Mink, Jonathan W.
Nickel, Miriam
Shediac, Renee
Sims, Katherine
Specchio, Nicola
Topcu, Meral
von Loebbecke, Ina
West, Andrea
Zernikow, Boris
Schulz, Angela
Çocuk Sağlığı ve Hastalıkları
Publication Year :
2017
Publisher :
Elsevier Science Inc, 2017.

Abstract

CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. No management guidelines exist and there is a paucity of published disease-specific evidence to inform clinical practice, which currently draws upon experience from the field of childhood neurodisability. Twenty-four disease experts were surveyed on CLN2 disease management and a subset met to discuss current practice. Management goals and strategies are consistent among experts globally and are guided by the principles of pediatric palliative care. Goals and interventions evolve as the disease progresses, with a shift in focus from maintenance of function early in the disease to maintenance of quality of life. A multidisciplinary approach is critical for optimal patient care. This work represents an initial step toward the development of consensus-based management guidelines for CLN2 disease.

Details

Language :
English
Database :
OpenAIRE
Accession number :
edsair.od......4268..0cb666e95d8a3ca2b751dc63e95b3fa3