Growth charts in DYRK1A syndrome

Pierre Louis Lanvin, Thomas Goronflot, Bertrand Isidor, Mathilde Nizon, Benjamin Durand, Salima El Chehadeh, David Geneviève, Valentin Ruault, Mélanie Fradin, Laurent Pasquier, Julien Thévenon, Bruno Delobel, Lydie Burglen, Alexandra Afenjar, Laurence Faivre, Christine Francannet, Anne Marie Guerrot, Alice Goldenberg, Sandra Mercier, Delphine HéronDaphné Lehalle, Cyril Mignot, Isabelle Marey, Perrine Charles, Sébastien Moutton, Stéphane Bézieau, Allan Bayat, Amélie Piton, Marjolaine Willems, Marie Vincent*

*Corresponding author for this work

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Abstract

DYRK1A Syndrome (OMIM #614104) is caused by pathogenic variations in the DYRK1A gene located on 21q22. Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. Low birth weight, growth restriction with feeding difficulties, stature insufficiency, and microcephaly are frequently reported. This study aims to create specific growth charts for individuals with DYRK1A Syndrome and identify parameters for size prognosis. Growth parameters were obtained for 92 individuals with DYRK1A Syndrome (49 males vs. 43 females). The data were obtained from pediatric records, parent reporting, and scientific literature. Growth charts for height, weight, body mass index (BMI), and occipitofrontal circumference (OFC) were generated using generalized additive models through R package gamlss. The growth curves include height, weight, and OFC measurements for patients aged 0–5 years. In accordance with the literature, the charts show that individuals are more likely to present intrauterine growth restriction with low birth weight and microcephaly. The growth is then characterized by severe microcephaly, low weight, and short stature. This study proposes growth charts for widespread use in the management of patients with DYRK1A syndrome.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
Volume194
Issue number1
Pages (from-to)9-16
ISSN1552-4825
DOIs
Publication statusPublished - Jan 2024

Bibliographical note

Publisher Copyright:
© 2023 Wiley Periodicals LLC.

Keywords

  • DYRK1A
  • DYRK1A gene
  • DYRK1A syndrome
  • specific growth curves

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