Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures
| العنوان: | Characterization of phenotypic range in |
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| المؤلفون: | Rebecca Fenster, Alban Ziegler, Catherine Kentros, Alexa Geltzeiler, LeeAnne Green Snyder, Elizabeth Brooks, Wendy K. Chung |
| المصدر: | American Journal of Medical Genetics Part A. 188:1954-1963 |
| بيانات النشر: | Wiley, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Phenotype, Autism Spectrum Disorder, Intellectual Disability, Microcephaly, Genetics, Humans, Haploinsufficiency, Syndrome, Protein Serine-Threonine Kinases, Protein-Tyrosine Kinases, Child, Genetics (clinical) |
| الوصف: | DYRK1A haploinsufficiency syndrome is a well-established neurodevelopmental disorder, but detailed information on the range of cognitive and behavioral issues associated with the condition is limited. We studied 24 participants with likely pathogenic or pathogenic variants in DYRK1A through the Simons Searchlight study and systematically assessed their medical history and development using standardized instruments: Vineland Adaptive Behavior Scale II (VABS-II) and Child Behavior Checklists/1.5-5 and 6-18 (CBCL/1.5-5, CBCL/6-18). All of the individuals in the cohort had neurological manifestations including intellectual disability or developmental delay, microcephaly, autism spectrum disorder, and/or seizures. The severity of the neurodevelopmental disorder was variable with a few children scoring in the moderately low range on the adaptive behavior composite score on the VABS-II. This study confirms the association of DYRK1A haploinsufficiency with neurodevelopmental disabilities, microcephaly, autism spectrum disorder, and epilepsy and quantifies the range of adaptive behaviors. |
| تدمد: | 1552-4833 1552-4825 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6766e098ac7274dbf76d7cd6216092a1 https://doi.org/10.1002/ajmg.a.62721 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....6766e098ac7274dbf76d7cd6216092a1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524833 15524825 |
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