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Physical and neuropsychological development of children with Citrin deficiency

Ni-Si Zhang1, Zhan-Hui Zhang, Wei-Xia Lin1

  • 1Department of Pediatrics, The First Affiliated Hospital of Jinan University, Guangzhou 510630, China.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics
|December 16, 2021
PubMed

Insights

Children with Citrin deficiency (CD) often experience physical and neuropsychological developmental delays. Regular assessments are crucial for monitoring growth and development in these children.

Area of Science:

  • Pediatrics
  • Medical Genetics
  • Developmental Biology

Background:

  • Citrin deficiency (CD) is a genetic disorder affecting the SLC25A13 gene.
  • Early identification and monitoring of developmental milestones are essential for children with CD.

Purpose of the Study:

  • To investigate the physical and neuropsychological development in children diagnosed with Citrin deficiency.
  • To determine the incidence rates of various developmental delays in this cohort.

Main Methods:

  • Retrospective analysis of 93 children diagnosed with CD via SLC25A13 gene analysis.
  • Inclusion of 100 cases, considering assessments before and after one year of age.
  • Evaluation of birth conditions, physical growth, and neuropsychological development indices.

Main Results:

  • 25% of children exhibited failure to thrive, and 47% were small for gestational age.
  • Incidence rates included growth retardation (23%), underweight (14%), and microcephalus (9%).
  • 25% of cases showed neuropsychological developmental delay, with gross motor (15%) and language (9%) delays being most common.

Conclusions:

  • Citrin deficiency is associated with significant physical and neuropsychological developmental delays in children.
  • Routine monitoring of physical growth and neurodevelopment is recommended for early intervention in CD patients.
Abstract

Keywords:
ChildCitrin deficiencyNeuropsychological developmentPhysical development

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