Growth in ataxia telangiectasia

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

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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.

Original languageEnglish (US)
Article number123
JournalOrphanet journal of rare diseases
Issue number1
StatePublished - Dec 2021


  • Ataxia telangiectasia
  • Growth
  • Growth charts
  • Infections

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)


Dive into the research topics of 'Growth in ataxia telangiectasia'. Together they form a unique fingerprint.

Cite this