دورية أكاديمية
DYRK1A-related intellectual disability syndrome: a cohort of Portuguese patients
| العنوان: | DYRK1A-related intellectual disability syndrome: a cohort of Portuguese patients |
|---|---|
| المؤلفون: | Raquel Gouveia-Silva, João Rodrigues-Alves, Juliette Dupont, Oana Moldovan, Patrícia Dias, Márcia Rodrigues, Ana Medeira, Ana B. Sousa |
| المصدر: | Portuguese Journal of Pediatrics, Vol 55, Iss 1 (2024) |
| بيانات النشر: | Publicaciones Permanyer, 2024. |
| سنة النشر: | 2024 |
| المجموعة: | LCC:Pediatrics LCC:Medicine (General) |
| مصطلحات موضوعية: | DYRK1A. Intellectual disability. Portuguese cohort., Pediatrics, RJ1-570, Medicine (General), R5-920 |
| الوصف: | Introduction: DYRK1A heterozygous pathogenic variants have been shown to cause a syndromic form of intellectual disability (ID) with impaired speech development, features of autism spectrum disorder (ASD), microcephaly, and a recognizable facial gestalt that evolves with age. Patients can also present with gait disturbance or hypertonia, epilepsy, brain imaging, ocular, and foot anomalies. Methods: This is a cross-sectional study. Clinical data on patients with DYRK1A pathogenic variants identified at the Clinical Genetics Department of Santa Maria Hospital, in Lisbon, were retrospectively collected from medical records using a detailed clinical questionnaire. Results: We describe eight unrelated patients, six females and two males, aged 4 to 24. Fetal growth restriction (FGR) was present in 5/8, and microcephaly in 7/8. ID, ranging from mild to severe, and language impairment or absent speech were documented in all patients. ASD and/or stereotypic behavior were reported in 6/8. Five patients presented visual anomalies, most commonly optic disc pallor (in 4). Three main facial features were consistently reported: deep-set eyes, thin upper lip, and micro/retrognathia. Foot and hand anomalies were frequent. Discussion/Conclusions: Our cohort illustrates the variable degree of severity of a syndromic form of ID, which includes mild cases. Microcephaly and a typical neurobehavioral phenotype are in accordance with the literature, as well as some common dysmorphisms. Interestingly, optic disc pallor seems to be a frequent finding, highlighting the need for ophthalmological surveillance. Our study adds evidence to the existence of a consistent clinical phenotype of DYRK1A-related ID, hopefully contributing to increased awareness and improving the recognition of this entity. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Portuguese |
| تدمد: | 2184-4453 |
| العلاقة: | https://pjp.spp.pt/frame_eng.php?id=36Test; https://doaj.org/toc/2184-4453Test |
| DOI: | 10.24875/PJP.M23000130 |
| الوصول الحر: | https://doaj.org/article/cbf295cbe7784410bd90a9db31e339b5Test |
| رقم الانضمام: | edsdoj.bf295cbe7784410bd90a9db31e339b5 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 21844453 |
|---|---|
| DOI: | 10.24875/PJP.M23000130 |