Nickel, Miriam;
Gissen, Paul;
Greenaway, Rebecca;
Cappelletti, Simona;
Hamborg, Christiane;
Ragni, Benedetta;
Ribitzki, Tanja;
... Specchio, Nicola; + view all
(2023)
Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis?
Neuropediatrics
10.1055/s-0043-1770143.
(In press).
Preview |
PDF
s-0043-1770143.pdf - Published Version Download (145kB) | Preview |
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.
| Type: | Article |
|---|---|
| Title: | Language Delay in Patients with CLN2 Disease: Could It Support Earlier Diagnosis? |
| Location: | Germany |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1055/s-0043-1770143 |
| Publisher version: | https://doi.org/10.1055/s-0043-1770143 |
| Language: | English |
| Additional information: | 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/) |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Pediatrics, Neurosciences & Neurology, CLN2 disease, neuronal ceroid lipofuscinosis, language development, enzyme replacement therapy, cerliponase alfa |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10173923 |
Archive Staff Only
 |
View Item |
