Innovative cytogenomic diagnostics of neurodevelopmental disorders in children




children, autism spectrum disorders, developmental delay, attention deficit hyperactivity disorder, intellectual disability, genetic testing, chromosomal microarray analysis, karyotyping, 2q13 microdeletion syndrome


Today, genetic diagnosis methods are a powerful tool for a practicing doctor, which allows not only to establish the etiology of neurodevelopmental disorders in children, but also influences the further tactics of patient management, the choice of further diagnostic and therapeutic interventions, helps in predicting subsequent pregnancies for the family.

Purpose - to analyze the information of modern specialized literature regarding the features of the use of modern cytogenetic methods of diagnosis, in particular, chromosomal micrometric analysis (СMA); give a clinical example of a child with a neurodevelopmental disorder and established chromosomal etiology.

A review of the scientific literature regarding the advantages and features of using innovative methods of cytogenetic diagnostics (karyotyping, СMA), clinical manifestations of 2q13 microdeletion syndrome is given.

A description of the clinical case of diagnosis of a child with 2q13 microdeletion syndrome is presented. A chromosomal micrometric analysis was performed, which revealed a heterozygous microdeletion on 2q13 with a size of 122 kilobases, which led to the loss of the NPHP1 and MALL genes. The obtained result of the CMA made it possible to optimize the tactics of monitoring the child, taking into account the increased risk of the development of kidney pathology and leukoencephalopathy, the recommended annual determination of the level of creatinine and urea in the blood, conducting an ultrasound of the kidneys and an MRI of the brain.

Conclusions. The given clinical observation confirms the complexity of the diagnostic search for neurodevelopmental disorders in children. In children with autism spectrum disorder, developmental delay, intellectual disability, in the absence of epileptic seizures, regardless of the presence of dysmorphic facial features, it is recommended to begin the examination with CMA, and in children with epileptic encephalopathies, it is optimal to begin the examination with the next generation sequencing method (NGS), namely whole exome sequencing.

The research was carried out in accordance with the principles of the Declaration of Helsinki. Informed consent of the children’s parents was obtained for the research.

No conflict of interests was declared by the authors.


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