The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.
WHY IT MATTERS
Parents and doctors caring for children with ANKRD11, ARID1B, ASXL3, DDX3X, KMT2A, or SATB2-related disorders can now use gene-specific growth charts to monitor their child's growth instead of comparing to general population standards that don't apply to their condition.
Researchers created a new method to build growth charts for children with rare genetic disorders. Instead of needing thousands of patients, this method uses a smaller group of patients and compares their growth to standard growth charts. They tested it on six rare genetic disorders and found it works well, which could help doctors track whether children with these conditions are growing normally.
The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders. Abstract: Children with monogenic neurodevelopmental disorders often grow abnormally. Gene-specific growth charts would be useful but require large samples to construct them using the conventional LMS method. We transformed anthropometry to British 1990 reference z-scores for 328 UK and 264 international individuals with ANKRD11, ARID1B, ASXL3, DDX3X, KMT2A, or SATB2-related disorders, and modelled mean and standard deviation (SD) of the z-scores as gene-specific linear age trends adjusted for sex. Assuming the same skewness in the reference and rare disease distributions, we then back-transformed the mean ±2 SD lines to give gene-specific median, 2nd, and 98th centiles. The resulting z-score charts look plausible on several counts. Only KMT2A shows a (rising) age trend in median height, Authors: Low et al. Journal: European journal of human genetics : EJHG MeSH: Humans, Male, Female, Child, Growth Charts, Child, Preschool, Adolescent, Rare Diseases, DEAD-box RNA Helicases, Transcription Factors
ASK YOUR DOCTOR
Ask your child's doctor if they have access to gene-specific growth charts for your child's condition, or mention this research as a resource for more accurate growth monitoring.