American journal of medical genetics. Part A · 2023
Growth charts in DYRK1A syndrome.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Lanvin Pierre-Louis, Goronflot Thomas, Isidor Bertrand, Nizon Mathilde, Durand Benjamin, El Chehadeh Salima, Geneviève David, Ruault Valentin, Fradin Mélanie, Pasquier Laurent, Thévenon Julien, Delobel Bruno, Burglen Lydie, Afenjar Alexandra, Faivre Laurence, Francannet Christine, Guerrot Anne-Marie, Goldenberg Alice, Mercier Sandra, Héron Delphine, Lehalle Daphné, Mignot Cyril, Marey Isabelle, Charles Perrine, Moutton Sébastien, Bézieau Stéphane, Bayat Allan, Piton Amélie, Willems Marjolaine, Vincent Marie
Аннотация
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.