Genetic diagnosis and follow-up of 49 cases neonatal hypotonia
10.3760/cma.j.issn.1673-4912.2021.08.006
- VernacularTitle:新生儿期肌张力低下49例患儿的遗传学特征及预后
- Author:
Muhetaer AYIJIAMALI
1
;
Yajie SU
;
Jiao YANG
;
Jinfeng HE
;
Rejiafu NUERYA
;
Hui ZHANG
;
Long LI
Author Information
1. 新疆维吾尔自治区儿童医院，乌鲁木齐 830000
- Keywords:
Hypotonia;
Genetic diagnosis;
Newborn;
Follow-up
- From:
Chinese Pediatric Emergency Medicine
2021;28(8):668-672
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the genetic etiology, clinical characteristics and outcomes of neonatal hypotonia in the early stage of NICU, to provide basis for clinicians to early identify diseases and choose reasonable treatments.Methods:The clinical data of neonates with hypotonia admitted to the Department of Neonatology of Children′s Hospital of Xinjiang Uygur Autonomous Region and People′s Hospital of Xinjiang Uygur Autonomous Region from July 2017 to July 2020 were analyzed.Results:A total of 49 children were enrolled in the study, all clinically manifested as unexplained hypotonia, accompanied by special appearance 29 cases(59.18%), metabolic abnormality 18 cases(36.73%), and cranial imagin abnormality 23 cases(46.93%). After gene sequencing a, total of 22(44.89%)patients were confirmed.Thirteen (26.53%) of them were copy number variation, and gene mutation in nine cases(18.36%). The oldest age of these patients was 3 years and 2 months now, while the youngest was 4 months.A total of 16 patients were dead(32.65%). Four (8.16%) patients were lost to follow-up.At present, eighteen (62.07%) patients had mental retardation, and eleven (37.93%) of whom still existed severe physical retardation.Conclusion:We could conduct genetic testing in NICU to improve the diagnosis rate of neonates with unexplained hypotonia, which have high rate of adverse events.Neonates with a clear diagnosis should be treated promptly and give the genetic counseling to reduce the risk for the next children.
