| Growth monitoring is one of the cornerstones of paediatric practice, but standard growth charts often fail to reflect the trajectories of children with rare, genetic disorders. These children frequently plot at extreme centiles, with the result that plotting on standard charts can be misleading and compromise management.
A new study presented at the British Society of Paediatric Endocrinology and Diabetes introduces the LMSz method, a robust, automatable technique for creating gene-specific growth charts using small datasets (https://adc.bmj.com/content/110/Suppl_1/A46.1). By transforming measurements into UK reference z-scores and modelling gene-specific trends for height, weight, BMI, and head circumference, researchers produced clinically plausible growth centiles for conditions such as ANKRD11 (KBG syndrome), ARID1B, ASXL3, DDX3X, KMT2A and SATB2-related disorders. Importantly, these charts reveal consistent patterns of growth faltering, such as median height well below population norms in most genes, that would be masked on standard charts. For clinicians, this provides a more accurate basis for decisions around interventions like growth hormone treatment in short stature syndromes, or nutritional support in feeding-related conditions such as Bainbridge-Roper syndrome (ASXL3). PC PAL’s GrowthXP software already enables paediatricians to visualise and contextualise auxological data for children affected by any of over 50 rare disorders. As gene-specific data becomes available, tools like GrowthXP will be essential in integrating these insights into routine practice, improving the accuracy of growth assessment and ensuring that management strategies reflect the unique growth potential of each child.
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