Publications by authors named "Gongxun Chen"
Article Synopsis
- Global developmental delay (GDD) is a complex condition predominantly marked by cognitive impairment, with genetic factors playing a critical yet poorly understood role in its development.
- The study aimed to evaluate the effectiveness of genetic testing in diagnosing GDD and to explore the molecular causes of the condition, potentially identifying targets for early treatment.
- Involving 434 children aged 12 to 60 months, the research found a 61% rate of positive genetic diagnosis through advanced sequencing methods, highlighting specific risk factors like craniofacial abnormalities and the severity of cognitive impairment linked to genetic variations.
[Clinical features and genetic analysis of a child with EAST/SeSAME syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
July 2023
Objective: To explore the genetic basis for a EAST/SeSAME syndrome child featuring epilepsy, ataxia, sensorineural deafness and intellectual disability.
Methods: A child with EAST/SeSAME syndrome who had presented at the Third Affiliated Hospital of Zhengzhou University in January 2021 was selected as the study object. Peripheral blood samples of the child and her parents were collected and subjected to whole exome sequencing.
[Analysis of CYP2U1 gene variants in a child with Hereditary spastic paraplegia type 56].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
May 2023
Objective: To analyze the clinical phenotype and genetic characteristics of a child with Hereditary spastic paraplegia (HSP).
Methods: A child with HSP who was admitted to the Third Affiliated Hospital of Zhengzhou University on August 10, 2020 due to discovery of tiptoeing for 2 years was selected as the study subject, and relevant clinical data was collected. Peripheral blood samples of the child and her parents were collected for the extraction of genomic DNA.
[Analysis of NOVA2 gene variant in a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
February 2023
Objective: To explore the genetic basis for a child with Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB).
Methods: A child with NEDASB who presented at the Third Affiliated Hospital of Zhengzhou University in July 2021 was selected as the subject. Peripheral blood samples of the child and her parents were collected and subjected to high-throughput sequencing.
Objective: To study the effect of rehabilitation treatment based on the International Classification of Functioning, Disability and Health-Children and Youth Version (ICF-CY) Core Sets on activities of daily living in children with cerebral palsy.
Methods: The children with cerebral palsy were divided into an observation group (=63) and a control group (=59) using a random number table. The children in the observation group were evaluated using the brief ICF-CY Core Sets for children under 6 years to identify intervention targets and develop rehabilitation plans and goals, and then specific methods were selected for rehabilitation treatment.
[Clinical effectiveness of Subjective Global Nutritional Assessment in hospitalized children with cerebral palsy].
Zhongguo Dang Dai Er Ke Za Zhi
November 2020
Objective: To investigate the nutritional status of children with cerebral palsy (CP) and the clinical effectiveness of Subjective Global Nutritional Assessment (SGNA) in nutritional assessment of hospitalized children with CP.
Methods: A total of 208 children with CP, aged 1-5 years, who were hospitalized from April to October 2019 were enrolled as subjects. SGNA was used to investigate nutritional status, and the Z-score method recommended by the World Health Organization was used as a reference standard to validate the clinical effectiveness of SGNA.