Cortical Visual Impairment in CDKL5 Deficiency Disorder

BACKGROUND: CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene cyclin-dependent kinase-like 5. Cerebral visual impairment (CVI) is frequent in patients with CDD. In addition to being recognized as a specific feature of the pathology, it has be...

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Autores principales: Quintiliani, Michela, Ricci, Daniela, Petrianni, Maria, Leone, Simona, Orazi, Lorenzo, Amore, Filippo, Gambardella, Maria Luigia, Contaldo, Ilaria, Veredice, Chiara, Perulli, Marco, Musto, Elisa, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8825365/
https://www.ncbi.nlm.nih.gov/pubmed/35153983
http://dx.doi.org/10.3389/fneur.2021.805745
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author Quintiliani, Michela
Ricci, Daniela
Petrianni, Maria
Leone, Simona
Orazi, Lorenzo
Amore, Filippo
Gambardella, Maria Luigia
Contaldo, Ilaria
Veredice, Chiara
Perulli, Marco
Musto, Elisa
Mercuri, Eugenio Maria
Battaglia, Domenica Immacolata
author_facet Quintiliani, Michela
Ricci, Daniela
Petrianni, Maria
Leone, Simona
Orazi, Lorenzo
Amore, Filippo
Gambardella, Maria Luigia
Contaldo, Ilaria
Veredice, Chiara
Perulli, Marco
Musto, Elisa
Mercuri, Eugenio Maria
Battaglia, Domenica Immacolata
author_sort Quintiliani, Michela
collection PubMed
description BACKGROUND: CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene cyclin-dependent kinase-like 5. Cerebral visual impairment (CVI) is frequent in patients with CDD. In addition to being recognized as a specific feature of the pathology, it has been suggested that visual impairment may correlate with neurodevelopmental outcome and epilepsy severity, but no systematic behavioral visual assessment has been performed. The aim of our study was to evaluate clinical and electrophysiological profile of CVI in patients with CDD, to correlate various aspects of visual function to neurodevelopmental and epileptic features. METHODS: The study included all patients with CDD from the National Pathology Registry. All patients underwent neurological examination, a disease-specific functional assessment, structured clinical evaluation of visual functions, including pattern reversal visual evoked potential (VEP), and a detailed monitoring of epileptic features, including video-EEG. RESULTS: All the 11 patients recorded in the CDKL5 national registry, 10 females and one male, age range of 1.5 to 24 years (mean 9, SD 7.7, median 6.5), were enrolled. Visual function is impaired in all patients; in particular, visual fields, visual acuity, contrast sensitivity, and stereopsis were consistently abnormal whereas other aspects, such as fixing and tracking, were relatively preserved. Pattern reversal VEP was abnormal in nearly 80% of our patients. No correlation was found among CVI severity, age, level of psychomotor development, EEG abnormalities, and pathology stages even if an overall less abnormal EEG pattern was more often associated with better visual results. CONCLUSION: In conclusion, CVI can be considered as a major feature of CDD with a diffuse involvement in several behavioral and electrophysiological aspects. Larger cohorts will help to better clarify the possible prognostic role of EEG severity in predicting both visual and developmental abnormalities.
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spelling pubmed-88253652022-02-10 Cortical Visual Impairment in CDKL5 Deficiency Disorder Quintiliani, Michela Ricci, Daniela Petrianni, Maria Leone, Simona Orazi, Lorenzo Amore, Filippo Gambardella, Maria Luigia Contaldo, Ilaria Veredice, Chiara Perulli, Marco Musto, Elisa Mercuri, Eugenio Maria Battaglia, Domenica Immacolata Front Neurol Neurology BACKGROUND: CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the gene cyclin-dependent kinase-like 5. Cerebral visual impairment (CVI) is frequent in patients with CDD. In addition to being recognized as a specific feature of the pathology, it has been suggested that visual impairment may correlate with neurodevelopmental outcome and epilepsy severity, but no systematic behavioral visual assessment has been performed. The aim of our study was to evaluate clinical and electrophysiological profile of CVI in patients with CDD, to correlate various aspects of visual function to neurodevelopmental and epileptic features. METHODS: The study included all patients with CDD from the National Pathology Registry. All patients underwent neurological examination, a disease-specific functional assessment, structured clinical evaluation of visual functions, including pattern reversal visual evoked potential (VEP), and a detailed monitoring of epileptic features, including video-EEG. RESULTS: All the 11 patients recorded in the CDKL5 national registry, 10 females and one male, age range of 1.5 to 24 years (mean 9, SD 7.7, median 6.5), were enrolled. Visual function is impaired in all patients; in particular, visual fields, visual acuity, contrast sensitivity, and stereopsis were consistently abnormal whereas other aspects, such as fixing and tracking, were relatively preserved. Pattern reversal VEP was abnormal in nearly 80% of our patients. No correlation was found among CVI severity, age, level of psychomotor development, EEG abnormalities, and pathology stages even if an overall less abnormal EEG pattern was more often associated with better visual results. CONCLUSION: In conclusion, CVI can be considered as a major feature of CDD with a diffuse involvement in several behavioral and electrophysiological aspects. Larger cohorts will help to better clarify the possible prognostic role of EEG severity in predicting both visual and developmental abnormalities. Frontiers Media S.A. 2022-01-26 /pmc/articles/PMC8825365/ /pubmed/35153983 http://dx.doi.org/10.3389/fneur.2021.805745 Text en Copyright © 2022 Quintiliani, Ricci, Petrianni, Leone, Orazi, Amore, Gambardella, Contaldo, Veredice, Perulli, Musto, Mercuri and Battaglia. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Quintiliani, Michela
Ricci, Daniela
Petrianni, Maria
Leone, Simona
Orazi, Lorenzo
Amore, Filippo
Gambardella, Maria Luigia
Contaldo, Ilaria
Veredice, Chiara
Perulli, Marco
Musto, Elisa
Mercuri, Eugenio Maria
Battaglia, Domenica Immacolata
Cortical Visual Impairment in CDKL5 Deficiency Disorder
title Cortical Visual Impairment in CDKL5 Deficiency Disorder
title_full Cortical Visual Impairment in CDKL5 Deficiency Disorder
title_fullStr Cortical Visual Impairment in CDKL5 Deficiency Disorder
title_full_unstemmed Cortical Visual Impairment in CDKL5 Deficiency Disorder
title_short Cortical Visual Impairment in CDKL5 Deficiency Disorder
title_sort cortical visual impairment in cdkl5 deficiency disorder
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8825365/
https://www.ncbi.nlm.nih.gov/pubmed/35153983
http://dx.doi.org/10.3389/fneur.2021.805745
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