Growth in ataxia telangiectasia
Abstract Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity groups are defined in A-T: classic (the more severe form) and mild. Poor...
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doaj-f21ac658da604bb7a100f376a6f1d66d2021-03-11T11:27:19ZengBMCOrphanet Journal of Rare Diseases1750-11722021-03-0116111410.1186/s13023-021-01716-5Growth in ataxia telangiectasiaValerie A. I. Natale0Tim J. Cole1Cynthia Rothblum-Oviatt2Jennifer Wright3Thomas O. Crawford4Maureen A. Lefton-Greif5Sharon A. McGrath-Morrow6Haley Schlechter7Howard M. Lederman8Forgotten Diseases Research FoundationUCL Great Ormond Street Institute of Child HealthA-T Children’s ProjectDivision of Pediatric Allergy and Immunology, The Johns Hopkins Medical InstitutionsDepartments of Pediatrics and Neurology, Johns Hopkins School of MedicineDepartments of Pediatrics, Otolaryngology-Head and Neck Surgery, and Physical Medicine and Rehabilitation, Johns Hopkins School of MedicineChildren’s Hospital of Philadelphia Division of Pulmonary Medicine and SleepInstitute for Clinical and Translational Research, Johns Hopkins School of MedicineDivision of Pediatric Allergy and Immunology, The Johns Hopkins Medical InstitutionsAbstract Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity groups are defined in A-T: classic (the more severe form) and mild. Poor growth is a common problem in classic A-T. An objective of this study was to develop growth references for classic A-T. Another objective was to compare growth patterns in classic A-T and mild A-T with each other and with the general population, using the CDC growth references. A final objective was to examine the effects of chronic infection on height. Results We found that classic A-T patients were smaller overall, and suffered from height and weight faltering that continued throughout childhood and adolescence. When compared to the CDC growth references, the median heights and weights for both male and female patients eventually fell to or below the 3rd centile on the CDC charts. Height faltering was more pronounced in females. Birthweight was lower in the classic A-T group compared to mild A-T and the general population, whereas birth length was not. Finally, we investigated height and BMI faltering in relation to number of infections and found no association. Conclusions Classic A-T appears to affect growth in utero. Although children appear to grow well in very early life, faltering begins early, and is unrelenting.https://doi.org/10.1186/s13023-021-01716-5Ataxia telangiectasiaGrowth chartsGrowthInfections |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Valerie A. I. Natale Tim J. Cole Cynthia Rothblum-Oviatt Jennifer Wright Thomas O. Crawford Maureen A. Lefton-Greif Sharon A. McGrath-Morrow Haley Schlechter Howard M. Lederman |
spellingShingle |
Valerie A. I. Natale Tim J. Cole Cynthia Rothblum-Oviatt Jennifer Wright Thomas O. Crawford Maureen A. Lefton-Greif Sharon A. McGrath-Morrow Haley Schlechter Howard M. Lederman Growth in ataxia telangiectasia Orphanet Journal of Rare Diseases Ataxia telangiectasia Growth charts Growth Infections |
author_facet |
Valerie A. I. Natale Tim J. Cole Cynthia Rothblum-Oviatt Jennifer Wright Thomas O. Crawford Maureen A. Lefton-Greif Sharon A. McGrath-Morrow Haley Schlechter Howard M. Lederman |
author_sort |
Valerie A. I. Natale |
title |
Growth in ataxia telangiectasia |
title_short |
Growth in ataxia telangiectasia |
title_full |
Growth in ataxia telangiectasia |
title_fullStr |
Growth in ataxia telangiectasia |
title_full_unstemmed |
Growth in ataxia telangiectasia |
title_sort |
growth in ataxia telangiectasia |
publisher |
BMC |
series |
Orphanet Journal of Rare Diseases |
issn |
1750-1172 |
publishDate |
2021-03-01 |
description |
Abstract Background Ataxia telangiectasia (A-T) is a DNA repair disorder that affects multiple body systems. Neurological problems and immunodeficiency are two important features of this disease. At this time, two main severity groups are defined in A-T: classic (the more severe form) and mild. Poor growth is a common problem in classic A-T. An objective of this study was to develop growth references for classic A-T. Another objective was to compare growth patterns in classic A-T and mild A-T with each other and with the general population, using the CDC growth references. A final objective was to examine the effects of chronic infection on height. Results We found that classic A-T patients were smaller overall, and suffered from height and weight faltering that continued throughout childhood and adolescence. When compared to the CDC growth references, the median heights and weights for both male and female patients eventually fell to or below the 3rd centile on the CDC charts. Height faltering was more pronounced in females. Birthweight was lower in the classic A-T group compared to mild A-T and the general population, whereas birth length was not. Finally, we investigated height and BMI faltering in relation to number of infections and found no association. Conclusions Classic A-T appears to affect growth in utero. Although children appear to grow well in very early life, faltering begins early, and is unrelenting. |
topic |
Ataxia telangiectasia Growth charts Growth Infections |
url |
https://doi.org/10.1186/s13023-021-01716-5 |
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