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Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method

BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is characterized by central hypoventilation due to abnormal autonomic control of breathing and global dysautonomia. Patients harbour heterozygous PHOX-2B gene mutations which are polyalanine repeats of various lengths in most of the case...

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Autores principales: Trang, Ha, Bourgeois, Pauline, Cheliout-Heraut, Fawzia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670788/
https://www.ncbi.nlm.nih.gov/pubmed/33203435
http://dx.doi.org/10.1186/s13023-020-01601-7
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author Trang, Ha
Bourgeois, Pauline
Cheliout-Heraut, Fawzia
author_facet Trang, Ha
Bourgeois, Pauline
Cheliout-Heraut, Fawzia
author_sort Trang, Ha
collection PubMed
description BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is characterized by central hypoventilation due to abnormal autonomic control of breathing and global dysautonomia. Patients harbour heterozygous PHOX-2B gene mutations which are polyalanine repeats of various lengths in most of the cases. A few previous studies have reported learning difficulties and neuropsychological disorders in patients with CCHS. The aims of the present study were (1) to explore the intellectual abilities of a group of children with CCHS followed up in the centre of reference for CCHS in France using the Wechsler batteries of tests, (2) and to assess whether there was any association between CCHS characteristics and various domains of the intellectual functioning. RESULTS: There were 34 consecutive patients (15 males, 19 females) of mean (SD) age of 7.8 (3.8) years, ranging from 4 to 16 years and 6 months. Mean score of full-scale intelligence quotient was 82 (20), being in the low average range. Indexes of working memory and processing speed were significantly lower as compared to the other Wechsler indexes. There were two important findings: (1) full-scale intelligence quotient as well as indexes of verbal comprehension and processing speed were significantly greater in patients with mask ventilation than in those with tracheostomy ventilation (p = 0.012, 0.032 and 0.042 respectively); (2) most interestingly, in the patients with polyalanine repeats mutations, all intellectual indexes negatively correlated with the number of polyalanine expansion, with statistical significance reached for indexes of fluid reasoning and working memory (R = − 0.449, p = 0.032 and R = − 0.562, p = 0.012 respectively). CONCLUSIONS: CCHS increased the risk to develop neurocognitive deficiencies, affecting particularly speed of processing and working memory. Our results suggested that both genetics and ventilation method could be also involved in the physiopathology of neurocognitive impairment. Further investigations were required to untangle the complex underlying processes. Neurocognitive assessments should be performed regularly in children with CCHS in order to plan re-education programs, adapt school integration and improve quality of life.
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spelling pubmed-76707882020-11-18 Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method Trang, Ha Bourgeois, Pauline Cheliout-Heraut, Fawzia Orphanet J Rare Dis Research BACKGROUND: Congenital Central Hypoventilation Syndrome (CCHS) is characterized by central hypoventilation due to abnormal autonomic control of breathing and global dysautonomia. Patients harbour heterozygous PHOX-2B gene mutations which are polyalanine repeats of various lengths in most of the cases. A few previous studies have reported learning difficulties and neuropsychological disorders in patients with CCHS. The aims of the present study were (1) to explore the intellectual abilities of a group of children with CCHS followed up in the centre of reference for CCHS in France using the Wechsler batteries of tests, (2) and to assess whether there was any association between CCHS characteristics and various domains of the intellectual functioning. RESULTS: There were 34 consecutive patients (15 males, 19 females) of mean (SD) age of 7.8 (3.8) years, ranging from 4 to 16 years and 6 months. Mean score of full-scale intelligence quotient was 82 (20), being in the low average range. Indexes of working memory and processing speed were significantly lower as compared to the other Wechsler indexes. There were two important findings: (1) full-scale intelligence quotient as well as indexes of verbal comprehension and processing speed were significantly greater in patients with mask ventilation than in those with tracheostomy ventilation (p = 0.012, 0.032 and 0.042 respectively); (2) most interestingly, in the patients with polyalanine repeats mutations, all intellectual indexes negatively correlated with the number of polyalanine expansion, with statistical significance reached for indexes of fluid reasoning and working memory (R = − 0.449, p = 0.032 and R = − 0.562, p = 0.012 respectively). CONCLUSIONS: CCHS increased the risk to develop neurocognitive deficiencies, affecting particularly speed of processing and working memory. Our results suggested that both genetics and ventilation method could be also involved in the physiopathology of neurocognitive impairment. Further investigations were required to untangle the complex underlying processes. Neurocognitive assessments should be performed regularly in children with CCHS in order to plan re-education programs, adapt school integration and improve quality of life. BioMed Central 2020-11-17 /pmc/articles/PMC7670788/ /pubmed/33203435 http://dx.doi.org/10.1186/s13023-020-01601-7 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Trang, Ha
Bourgeois, Pauline
Cheliout-Heraut, Fawzia
Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method
title Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method
title_full Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method
title_fullStr Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method
title_full_unstemmed Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method
title_short Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method
title_sort neurocognition in congenital central hypoventilation syndrome: influence of genotype and ventilation method
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7670788/
https://www.ncbi.nlm.nih.gov/pubmed/33203435
http://dx.doi.org/10.1186/s13023-020-01601-7
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