Growth and nutrition in children with trichothiodystrophy

J Pediatr Gastroenterol Nutr. 2014 Oct;59(4):458-64. doi: 10.1097/MPG.0000000000000458.


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: NCT00001813.

Publication types

  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Female
  • Growth Disorders / epidemiology*
  • Growth Disorders / etiology
  • Growth*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Nutritional Status*
  • Prevalence
  • Prospective Studies
  • Retrospective Studies
  • Trichothiodystrophy Syndromes* / mortality

Associated data