Neurodevelopmental Disorders in Children with Hereditary Diseases (Review of Literature, Clinical Case Report)

Abstract

Introduction. The majority of studies on disturbed neurodevelopment in children focus on psychiatric or psychological-pedagogical issues, but the genetic component of pathology also occupies an important place, in which is important to conduct genetic investigation to verify hereditary pathology, and to identify target organs inherent in particular hereditary disease. The aim of the study. To conduct a review of current literature dedicated to the problem of impaired neurodevelopment in children with hereditary diseases, to describe a clinical case of A. Rett genetic syndrome, accompanied by impaired neurodevelopment in a child. Materials and methods. The method of systematic and comparative analysis, as well as the biblio-semantic method of studying modern views on the influence of hereditary diseases in the disruption of neurodevelopment in children were used. As much as 25 recent publications were analyzed. A clinical case of A. Rett syndrome in a child is described, where the analysis of clinical symptoms and laboratory-instrumental examinations were used, the main of which is the molecular genetic method of next generation sequencing (NGS). Results. Based on the literature analysis it was estimated that clinical cases of rare A. Rett syndrome in children occur with a frequency of 1:10.000-1:15.000. This syndrome is caused by a mutation in the MECP2 gene associated with X-linked A. Rett syndrome/atypical A. Rett syndrome (UID MedGen: 48441) or X-linked MECP2 duplication syndrome (MedGen: 337496). Conclusions. For a long time, the connection of impaired neurodevelopment with other clinical symptoms was not payed much attention, but the enhanced frequency of cases when a child with impaired neurodevelopment was diagnosed with other symptoms or a multisystem lesion stimulated research in this area. This is the story how the term ″syndromal autism″ was born. This term means developmental delay or autism spectrum disorder in children with symptoms of another hereditary disease.