Cargando…

The natural history of ataxia-telangiectasia (A-T): A systematic review

BACKGROUND: Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of this intriguing condition. OBJECTIVES: Understand...

Descripción completa

Detalles Bibliográficos
Autores principales: Petley, Emily, Yule, Alexander, Alexander, Shaun, Ojha, Shalini, Whitehouse, William P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9049793/
https://www.ncbi.nlm.nih.gov/pubmed/35290391
http://dx.doi.org/10.1371/journal.pone.0264177
_version_ 1784696221222305792
author Petley, Emily
Yule, Alexander
Alexander, Shaun
Ojha, Shalini
Whitehouse, William P.
author_facet Petley, Emily
Yule, Alexander
Alexander, Shaun
Ojha, Shalini
Whitehouse, William P.
author_sort Petley, Emily
collection PubMed
description BACKGROUND: Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of this intriguing condition. OBJECTIVES: Understand the natural history of ataxia-telangiectasia (A-T), as reported in scientific literature. SEARCH METHODS: 107 search terms were identified and divided into 17 searches. Each search was performed in PubMed, Ovid SP (MEDLINE) 1946-present, OVID EMBASE 1980 –present, Web of Science core collection, Elsevier Scopus, and Cochrane Library. SELECTION CRITERIA: All human studies that report any aspect of A-T. DATA COLLECTION AND ANALYSIS: Search results were de-duplicated, data extracted (including author, publication year, country of origin, study design, population, participant characteristics, and clinical features). Quality of case-control and cohort studies was assessed by the Newcastle-Ottawa tool. Findings are reported descriptively and where possible data collated to report median (interquartile range, range) of outcomes of interest. MAIN RESULTS: 1314 cases reported 2134 presenting symptoms. The most common presenting symptom was abnormal gait (1160 cases; 188 studies) followed by recurrent infections in classical ataxia-telangiectasia and movement disorders in variant ataxia-telangiectasia. 687 cases reported 752 causes of death among which malignancy was the most frequently reported cause. Median (IQR, range) age of death (n = 294) was 14 years 0 months (10 years 0 months to 23 years 3 months, 1 year 3 months to 76 years 0 months). CONCLUSIONS: This review demonstrates the multi-system involvement in A-T, confirms that neurological symptoms are the most frequent presenting features in classical A-T but variants have diverse manifestations. We found that most individuals with A-T have life limited to teenage or early adulthood. Predominance of case reports, and case series demonstrate the lack of robust evidence to determine the natural history of A-T. We recommend population-based studies to fill this evidence gap.
format Online
Article
Text
id pubmed-9049793
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Public Library of Science
record_format MEDLINE/PubMed
spelling pubmed-90497932022-04-29 The natural history of ataxia-telangiectasia (A-T): A systematic review Petley, Emily Yule, Alexander Alexander, Shaun Ojha, Shalini Whitehouse, William P. PLoS One Research Article BACKGROUND: Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of this intriguing condition. OBJECTIVES: Understand the natural history of ataxia-telangiectasia (A-T), as reported in scientific literature. SEARCH METHODS: 107 search terms were identified and divided into 17 searches. Each search was performed in PubMed, Ovid SP (MEDLINE) 1946-present, OVID EMBASE 1980 –present, Web of Science core collection, Elsevier Scopus, and Cochrane Library. SELECTION CRITERIA: All human studies that report any aspect of A-T. DATA COLLECTION AND ANALYSIS: Search results were de-duplicated, data extracted (including author, publication year, country of origin, study design, population, participant characteristics, and clinical features). Quality of case-control and cohort studies was assessed by the Newcastle-Ottawa tool. Findings are reported descriptively and where possible data collated to report median (interquartile range, range) of outcomes of interest. MAIN RESULTS: 1314 cases reported 2134 presenting symptoms. The most common presenting symptom was abnormal gait (1160 cases; 188 studies) followed by recurrent infections in classical ataxia-telangiectasia and movement disorders in variant ataxia-telangiectasia. 687 cases reported 752 causes of death among which malignancy was the most frequently reported cause. Median (IQR, range) age of death (n = 294) was 14 years 0 months (10 years 0 months to 23 years 3 months, 1 year 3 months to 76 years 0 months). CONCLUSIONS: This review demonstrates the multi-system involvement in A-T, confirms that neurological symptoms are the most frequent presenting features in classical A-T but variants have diverse manifestations. We found that most individuals with A-T have life limited to teenage or early adulthood. Predominance of case reports, and case series demonstrate the lack of robust evidence to determine the natural history of A-T. We recommend population-based studies to fill this evidence gap. Public Library of Science 2022-03-15 /pmc/articles/PMC9049793/ /pubmed/35290391 http://dx.doi.org/10.1371/journal.pone.0264177 Text en © 2022 Petley et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Petley, Emily
Yule, Alexander
Alexander, Shaun
Ojha, Shalini
Whitehouse, William P.
The natural history of ataxia-telangiectasia (A-T): A systematic review
title The natural history of ataxia-telangiectasia (A-T): A systematic review
title_full The natural history of ataxia-telangiectasia (A-T): A systematic review
title_fullStr The natural history of ataxia-telangiectasia (A-T): A systematic review
title_full_unstemmed The natural history of ataxia-telangiectasia (A-T): A systematic review
title_short The natural history of ataxia-telangiectasia (A-T): A systematic review
title_sort natural history of ataxia-telangiectasia (a-t): a systematic review
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9049793/
https://www.ncbi.nlm.nih.gov/pubmed/35290391
http://dx.doi.org/10.1371/journal.pone.0264177
work_keys_str_mv AT petleyemily thenaturalhistoryofataxiatelangiectasiaatasystematicreview
AT yulealexander thenaturalhistoryofataxiatelangiectasiaatasystematicreview
AT alexandershaun thenaturalhistoryofataxiatelangiectasiaatasystematicreview
AT ojhashalini thenaturalhistoryofataxiatelangiectasiaatasystematicreview
AT whitehousewilliamp thenaturalhistoryofataxiatelangiectasiaatasystematicreview
AT petleyemily naturalhistoryofataxiatelangiectasiaatasystematicreview
AT yulealexander naturalhistoryofataxiatelangiectasiaatasystematicreview
AT alexandershaun naturalhistoryofataxiatelangiectasiaatasystematicreview
AT ojhashalini naturalhistoryofataxiatelangiectasiaatasystematicreview
AT whitehousewilliamp naturalhistoryofataxiatelangiectasiaatasystematicreview