Delays in early neuropsychic development: Approaches to diagnosis

<p>The population frequency of neuropsychic developmental delays in infants is estimated at nearly 10%; that of global intellectual disability (mental retardation) is at 1-3%. Delayed development is denned as a substantial retardation as compared to the standard indicators in any of the basic spheres: motor, communicative, cognitive, adaptive-behavioral, and socioemotional ones. Global developmental delay is characterized by a significant lag in two or more spheres. The use of current diagnostic techniques, such as the Bayley or Griffiths scales, can provide an objective quantitative assessment of both an infant's overall development and indicators in individual spheres. At the preliminary examination stage, it is expedient to carry out a Denver developmental screening test that may be directly used in a doctor's consulting room. The causes of global developmental delay/intellectual disability in infants may be perinatal central nervous system (CNS) lesions; brain malformations; intrauterine infections; intrauterine intoxications; early-onset psychoneurological diseases (neuroinfections, CNS injuries, epilepsies, autism spectrum disorders, etc.); congenital hypothyroidism; genetic diseases. Among all genetic causes of global developmental delay/intellectual disability, there are chromosomal anomalies (25-30%), monogenic diseases (metabolic diseases, neuroectodermal syndromes, diseases with predominant grey and white matter involvement). The diagnostic possibilities of current genetic methods are considered.