Growth charts in DYRK1A syndrome.

DYRK1A DYRK1A gene DYRK1A syndrome specific growth curves

Journal

American journal of medical genetics. Part A

ISSN: 1552-4833

Titre abrégé: Am J Med Genet A

Pays: United States

ID NLM: 101235741

Informations de publication

Date de publication:
22 Sep 2023

Historique:

revised: 09 07 2023

received: 17 07 2022

accepted: 25 08 2023

medline: 23 9 2023

pubmed: 23 9 2023

entrez: 23 9 2023

Statut: aheadofprint

Résumé

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.

Identifiants

DOI: 10.1002/ajmg.a.63412 PMID: 37740550

pubmed: 37740550

doi: 10.1002/ajmg.a.63412

doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Informations de copyright

Références

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