Growth charts in DYRK1A syndrome
Article Swipe
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 Bürglen
,
Alexandra Afenjar
,
Laurence Faivre
,
Christine Francannet
,
Anne‐Marie Guerrot
,
Alice Goldenberg
,
Sandra Mercier
,
Delphine Héron
,
Daphné Lehalle
,
Cyril Mignot
,
Isabelle Marey
,
Perrine Charles
,
Sébastien Moutton
,
Stéphane Bezieau
,
Allan Bayat
,
Amélie Piton
,
Marjolaine Willems
,
Marie Vincent
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.63412
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1002/ajmg.a.63412
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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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/ajmg.a.63412
- OA Status
- green
- Cited By
- 1
- References
- 18
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4386979786
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W4386979786Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1002/ajmg.a.63412Digital Object Identifier
- Title
-
Growth charts in
DYRK1A syndromeWork title - Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-09-22Full publication date if available
- Authors
-
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 Bürglen, Alexandra Afenjar, Laurence Faivre, Christine Francannet, Anne‐Marie Guerrot, Alice Goldenberg, Sandra Mercier, Delphine Héron, Daphné Lehalle, Cyril Mignot, Isabelle Marey, Perrine Charles, Sébastien Moutton, Stéphane Bezieau, Allan Bayat, Amélie Piton, Marjolaine Willems, Marie VincentList of authors in order
- Landing page
-
https://doi.org/10.1002/ajmg.a.63412Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
greenOpen access status per OpenAlex
- OA URL
-
https://portal.findresearcher.sdu.dk/da/publications/cb108a75-9942-436b-8387-7bedb59ee55bDirect OA link when available
- Concepts
-
Microcephaly, Haploinsufficiency, Short stature, Pediatrics, Medicine, Down syndrome, DYRK1A, Body mass index, Growth retardation, Psychomotor learning, Anthropometry, Low birth weight, Internal medicine, Biology, Genetics, Pregnancy, Gene, Psychiatry, Phenotype, CognitionTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
1Total citation count in OpenAlex
- Citations by year (recent)
-
2024: 1Per-year citation counts (last 5 years)
- References (count)
-
18Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.males | 75 |
| abstract_inverted_index.short | 164 |
| abstract_inverted_index.study | 46, 167 |
| abstract_inverted_index.using | 106 |
| abstract_inverted_index.(BMI), | 99 |
| abstract_inverted_index.21q22. | 16 |
| abstract_inverted_index.DYRK1A | 1, 12, 19, 56, 72, 180 |
| abstract_inverted_index.Growth | 64, 91 |
| abstract_inverted_index.caused | 6 |
| abstract_inverted_index.causes | 20 |
| abstract_inverted_index.charts | 52, 92, 135, 170 |
| abstract_inverted_index.create | 49 |
| abstract_inverted_index.curves | 117 |
| abstract_inverted_index.gamlss | 113 |
| abstract_inverted_index.global | 24 |
| abstract_inverted_index.growth | 33, 51, 116, 145, 154, 169 |
| abstract_inverted_index.likely | 141 |
| abstract_inverted_index.models | 109 |
| abstract_inverted_index.parent | 86 |
| abstract_inverted_index.severe | 159 |
| abstract_inverted_index.weight | 150 |
| abstract_inverted_index.years. | 128 |
| abstract_inverted_index.feeding | 36 |
| abstract_inverted_index.height, | 94, 119 |
| abstract_inverted_index.include | 118 |
| abstract_inverted_index.located | 14 |
| abstract_inverted_index.package | 112 |
| abstract_inverted_index.present | 143 |
| abstract_inverted_index.stature | 38 |
| abstract_inverted_index.through | 110 |
| abstract_inverted_index.weight, | 32, 95, 120, 162 |
| abstract_inverted_index.#614104) | 4 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.Syndrome | 2, 57, 73 |
| abstract_inverted_index.additive | 108 |
| abstract_inverted_index.identify | 59 |
| abstract_inverted_index.obtained | 67, 82 |
| abstract_inverted_index.patients | 125, 178 |
| abstract_inverted_index.proposes | 168 |
| abstract_inverted_index.records, | 85 |
| abstract_inverted_index.specific | 50 |
| abstract_inverted_index.stature. | 165 |
| abstract_inverted_index.syndrome | 22 |
| abstract_inverted_index.females). | 78 |
| abstract_inverted_index.generated | 105 |
| abstract_inverted_index.pediatric | 84 |
| abstract_inverted_index.reported. | 44 |
| abstract_inverted_index.syndrome. | 181 |
| abstract_inverted_index.accordance | 130 |
| abstract_inverted_index.frequently | 43 |
| abstract_inverted_index.management | 176 |
| abstract_inverted_index.parameters | 60, 65 |
| abstract_inverted_index.pathogenic | 8 |
| abstract_inverted_index.prognosis. | 63 |
| abstract_inverted_index.reporting, | 87 |
| abstract_inverted_index.scientific | 89 |
| abstract_inverted_index.variations | 9 |
| abstract_inverted_index.widespread | 172 |
| abstract_inverted_index.disability. | 29 |
| abstract_inverted_index.generalized | 107 |
| abstract_inverted_index.individuals | 54, 70, 138 |
| abstract_inverted_index.literature, | 133 |
| abstract_inverted_index.literature. | 90 |
| abstract_inverted_index.psychomotor | 25 |
| abstract_inverted_index.restriction | 34, 146 |
| abstract_inverted_index.intellectual | 28 |
| abstract_inverted_index.intrauterine | 144 |
| abstract_inverted_index.measurements | 123 |
| abstract_inverted_index.microcephaly | 41 |
| abstract_inverted_index.characterized | 157 |
| abstract_inverted_index.circumference | 102 |
| abstract_inverted_index.difficulties, | 37 |
| abstract_inverted_index.microcephaly, | 160 |
| abstract_inverted_index.microcephaly. | 152 |
| abstract_inverted_index.insufficiency, | 39 |
| abstract_inverted_index.occipitofrontal | 101 |
| abstract_inverted_index.Haploinsufficiency | 17 |
| cited_by_percentile_year.max | 94 |
| cited_by_percentile_year.min | 90 |
| corresponding_author_ids | https://openalex.org/A5073816426 |
| countries_distinct_count | 2 |
| institutions_distinct_count | 30 |
| corresponding_institution_ids | https://openalex.org/I1294671590, https://openalex.org/I154526488, https://openalex.org/I4210144168 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.5699999928474426 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.63851723 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |