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. 2021 Mar 10;16(1):123.
doi: 10.1186/s13023-021-01716-5.

Growth in ataxia telangiectasia

Valerie A I Natale  1 , Tim J Cole  2 , Cynthia Rothblum-Oviatt  3 , Jennifer Wright  4 , Thomas O Crawford  5 , Maureen A Lefton-Greif  6 , Sharon A McGrath-Morrow  7   8 , Haley Schlechter  8 , Howard M Lederman  4
Affiliations

Growth in ataxia telangiectasia

Valerie A I Natale et al. Orphanet J Rare Dis. .

Erratum in

  • Correction to: Growth in ataxia telangiectasia.
    Natale VAI, Cole TJ, Rothblum-Oviatt C, Wright J, Crawford TO, Lefton-Greif MA, McGrath-Morrow SA, Schlechter H, Lederman HM. Natale VAI, et al. Orphanet J Rare Dis. 2021 Jun 1;16(1):248. doi: 10.1186/s13023-021-01891-5. Orphanet J Rare Dis. 2021. PMID: 34074316 Free PMC article. No abstract available.

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.

Keywords: Ataxia telangiectasia; Growth; Growth charts; Infections.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Comparison of height (classic A-T median vs. CDC median). a Females. b Males
Fig. 2
Fig. 2
Comparison of weight (classic A-T median vs. CDC median). a Females. b Males
Fig. 3
Fig. 3
Comparison of BMI (classic A-T median vs. CDC median). a Females. b Males
Fig. 4
Fig. 4
Birthweight percentiles in A-T (using percentiles in the general population as a reference). Data for birthweight came from data sets 1 and 2 (extracted data and clinic database). a Classic A-T. b Mild A-T. Infants with classic A-T tended to be smaller at birth, while infants with mild A-T tended to be larger
Fig. 5
Fig. 5
Birth length percentiles in classic A-T. We used percentiles in the general population as a reference [see Methods] [26]. Unlike birthweight, birth length was distributed relatively evenly. There was no sex difference (not shown). We did not have sufficient data for a plot of birth length in mild A-T
Fig. 6
Fig. 6
Median height z-score by age in mild and classic A-T, sexes combined (z-scores with respect to CDC values)
Fig. 7
Fig. 7
Median height z-score at age 10–14 in mild and classic A-T, split by length of survival (compared to CDC data). This age range was chosen to facilitate comparison between the oldest patients in the early death cohort and other patients. Mild: mild A-T (41 data points/19 patients). Longer survival: patients surviving past age 25 (99 data points/35 patients). Early death: patients dying by age 15.0 (16 data points/9 patients)
Fig. 8
Fig. 8
BMI in classic and mild A-T. BMI z-score by age in A-T. BMI in classic A-T falls with age. Mild A-T shows no age trend. The figure uses data from the 162 patients in the extracted dataset and 31 patients with mild A-T
Fig. 9
Fig. 9
Prevalence of wasting (BMI z-score ≤ –2) by age in A-T patients. Solid violet bars: classic A-T. Dotted green bars: mild A-T
See this image and copyright information in PMC

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