AI Article Synopsis
- DYRK1A Syndrome is caused by mutations in the DYRK1A gene, leading to global developmental delays, intellectual disability, and common physical issues like low birth weight and microcephaly.
- The study compiled growth data from 92 individuals with the syndrome, utilizing various sources including pediatric records and scientific literature.
- New growth charts were created for key measurements (height, weight, BMI, occipitofrontal circumference) for children aged 0-5 years, providing a useful tool for managing patients with DYRK1A Syndrome.
Article 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.
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| http://dx.doi.org/10.1002/ajmg.a.63412 | DOI Listing |
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