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. 2012 Aug 14;79(7):668-74.
doi: 10.1212/WNL.0b013e3182648b65. Epub 2012 Jul 18.

Measures of growth in children at risk for Huntington disease

Jessica K Lee  1 , Kathy Mathews, Bradley Schlaggar, Joel Perlmutter, Jane S Paulsen, Eric Epping, Leon Burmeister, Peg Nopoulos
Affiliations

Measures of growth in children at risk for Huntington disease

Jessica K Lee et al. Neurology. .

Abstract

Objective: The effect of mHTT on human development was examined by evaluating measures of growth in children at risk for Huntington disease (HD).

Methods: Children at risk for HD with no manifest symptoms (no juvenile HD included) were enrolled and tested for gene expansion for research purposes only. Measurements of growth (height, weight, body mass index [BMI], and head circumference) in children tested as gene-expanded (n = 20, 7-18 years of age, CAG repeats ≥39) were compared to those of a large database of healthy children (n = 152, 7-18 years of age).

Results: Gene-expanded children had significantly lower measures of head circumference, weight, and BMI. Head circumference was abnormally low even after correcting for height, suggesting a specific deficit in brain growth, rather than a global growth abnormality.

Conclusions: These results indicate that, compared to a control population, children who were estimated to be decades from HD diagnosis have significant differences in growth. Further, they suggest that mHTT may play a role in atypical somatic, and in particular, brain development.

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Figures

Figure 1
Figure 1. Relationship between height and age
This scatterplot demonstrates the distribution of height by age for each participant including those from both gene-expanded group and combined controls. Both male and female growth trajectories of our current sample closely match the standardized trajectories produced by the Centers for Disease Control and Prevention.
Figure 2
Figure 2. Growth trajectory and Z score of growth measurements of CAG gene-expanded and gene-nonexpanded group
Growth trajectory in (A) height, (B) weight, (C) body mass index (BMI), and (D) head circumference of children with and without CAG gene expansion is depicted. The dashed lines indicate the 95% confidence limits for the fitted trend lines. (E) Findings in growth measurements of children at risk for Huntington disease in comparison with healthy controls. Z score of 0 represents healthy controls.
See this image and copyright information in PMC

Comment in

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