Growth in ataxia telangiectasia

Area of Science:

• Genetics and Molecular Biology
• Pediatrics
• Neurology

Background:

• Ataxia-Telangiectasia (A-T) is a severe DNA repair disorder impacting multiple systems, notably causing neurological issues and immunodeficiency.
• A-T presents in classic (severe) and mild forms, with poor growth being a hallmark of the classic type.
• Chronic infections are common in A-T patients.

Purpose of the Study:

• To establish growth references specifically for children with classic A-T.
• To compare growth patterns in classic A-T, mild A-T, and the general population using CDC growth references.
• To investigate the relationship between chronic infections and height/BMI in A-T patients.

Main Methods:

• Development of novel growth references for classic A-T.
• Comparative analysis of growth data against established CDC growth references for different A-T severity groups and the general population.
• Statistical examination of correlations between infection frequency and anthropometric measurements (height, BMI).

Main Results:

• Classic A-T patients exhibit overall smaller stature and persistent height and weight faltering throughout childhood and adolescence.
• Median height and weight for both sexes in classic A-T fall below the 3rd percentile of CDC growth charts.
• While birthweight was lower in classic A-T, birth length was comparable; height faltering was more severe in females, and no association was found between infections and growth faltering.

Conclusions:

• Classic A-T impacts fetal growth, with growth faltering beginning early in life and continuing relentlessly.
• Growth references are crucial for monitoring classic A-T patients.
• Early-onset, progressive growth impairment is a key characteristic of classic A-T, independent of infection burden.