Growth and nutrition in children with trichothiodystrophy

Abstract

Objectives: Trichothiodystrophy (TTD) is a rare autosomal recessive disorder of DNA repair and transcription. Patients have multisystem abnormalities, including alterations in growth and development. This report characterizes the growth and nutritional status of a cohort of children with TTD.

Methods: Twenty-five patients with TTD were evaluated through a natural history study of patients with DNA repair diseases at the National Institutes of Health. Mean length of follow-up was 2.7 years. Retrospective and prospective data on nutritional status and height/weight were collected.

Results: In general, patients with TTD had considerable abnormalities in growth, with a mean height-for-age z score of -2.75 and a mean weight-for-age z score of -2.60 at baseline clinical evaluation. The median weight-for-length at baseline was, however, 50th percentile and indicators of adequate nutrition such as serum albumin, hemoglobin, and vitamins D and B12 were largely within normal limits. Changes in growth parameters as children aged were characterized by further separation from standard growth curves (change height-for-age z score/year [-0.18 ± 0.42] and weight-for-age z score/year [-0.36 ± 0.51]). Patients who died during follow-up (n = 5) had significantly lower standardized height (P = 0.03) and weight (P = 0.006), weight-for-length (<0.0001), and higher heart rates (P = 0.02) compared with the remainder of the cohort.

Conclusions: Children with TTD have markedly diminished weight-for-age and height-for-age relative to reference populations. The cause for this stunted growth remains unclear but does not appear to be related to poor nutrient absorption or malnutrition.

Trial registration: ClinicalTrials.gov NCT00001813.

Conflict of interest statement

Conflict of Interest: The authors have no conflicts of interest to disclose.

Figures

Figure 1. Height-for age, weight-for-age, and BMI z-scores over time for each subject enrolled in the study

Each line represents all available growth data for a unique subject; the numbers in the key correspond to the ID numbers listed in the demographics (Table 1). (D) after a subject’s ID number signifies that they are now deceased. A) Height-for-age z-score plotted by subject age in years. B) Weight-for-age z-score plotted by age in years C.) BMI z-score plotted by age in years.

Figure 1. Height-for age, weight-for-age, and BMI z-scores over time for each subject enrolled in the study

Each line represents all available growth data for a unique subject; the numbers in the key correspond to the ID numbers listed in the demographics (Table 1). (D) after a subject’s ID number signifies that they are now deceased. A) Height-for-age z-score plotted by subject age in years. B) Weight-for-age z-score plotted by age in years C.) BMI z-score plotted by age in years.

Figure 1. Height-for age, weight-for-age, and BMI z-scores over time for each subject enrolled in the study

Each line represents all available growth data for a unique subject; the numbers in the key correspond to the ID numbers listed in the demographics (Table 1). (D) after a subject’s ID number signifies that they are now deceased. A) Height-for-age z-score plotted by subject age in years. B) Weight-for-age z-score plotted by age in years C.) BMI z-score plotted by age in years.