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CC BY-NC-ND 4.0 · Neuropediatrics 2023; 54(06): 402-406
DOI: 10.1055/s-0043-1770143
Short Communication

Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?

Miriam Nickel
1   Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Paul Gissen
2   National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, University College London, London, United Kingdom
,
Rebecca Greenaway
3   Neurodisability Service, Great Ormond Street Hospital, London, United Kingdom
,
Simona Cappelletti
4   Rare and Complex Epilepsy Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network: EpiCARE, Rome, Italy
,
Christiane Hamborg
5   Hirtenweg School, Hamburg, Germany
,
Benedetta Ragni
4   Rare and Complex Epilepsy Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network: EpiCARE, Rome, Italy
,
Tanja Ribitzki
5   Hirtenweg School, Hamburg, Germany
,
Angela Schulz
1   Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
,
Ilaria Tondo
4   Rare and Complex Epilepsy Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network: EpiCARE, Rome, Italy
,
Nicola Specchio
4   Rare and Complex Epilepsy Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network: EpiCARE, Rome, Italy
› Author Affiliations Funding This manuscript was developed after discussions at a meeting of experts organized and supported by BioMarin Europe Ltd.
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Abstract

Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric disorder associated with rapid neurodegeneration, and premature death in adolescence. An effective enzyme replacement therapy (cerliponase alfa) has been approved that can reduce this predictable neurological decline. The nonspecific early symptoms of CLN2 disease frequently delay diagnosis and appropriate management. Seizures are generally recognized as the first presenting symptom of CLN2 disease, but emerging data show that language delay may precede this. An improved understanding of language deficits in the earliest stage of CLN2 disease may support the early identification of patients. In this article, CLN2 disease experts examine how language development is affected by CLN2 disease in their clinical practices. The authors' experiences highlighted the timings of first words and first use of sentences, and language stagnation as key features of language deficits in CLN2 disease, and how deficits in language may be an earlier sign of the disease than seizures. Potential challenges in identifying early language deficits include assessing patients with other complex needs, and recognizing that a child's language abilities are not within normal parameters given the variability of language development in young children. CLN2 disease should be considered in children presenting with language delay and/or seizures to facilitate earlier diagnosis and access to treatment that can significantly reduce morbidity.

Keywords

CLN2 disease - neuronal ceroid lipofuscinosis - language development - enzyme replacement therapy - cerliponase alfa

Supplementary Material



Publication History

Received: 13 January 2023

Accepted: 26 April 2023

Article published online:
17 June 2023

© 2023. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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