Method of diagnostics of phenotypic manifestations of polygenic connective tissue dysplasia based on a survey in children of Belgorod

Full Text

RELEVANCE. Connective tissue dysplasia (DST) is a genetically determined feature of the body, during which there is a violation of the development and metabolism of connective tissue [1]. A large number of scientific publications on diagnosis and treatment are devoted to this nosology, as researchers are increasingly interested in finding universal verification of clinical diagnosis and creating optimal treatment standards. This is undoubtedly due to the high prevalence of DST among children and a significant risk of developing multiple organ complications [2, 3].
PURPOSE. To conduct a survey among children and the city to assess the frequency of occurrence of polygenic phenotypic manifestations of connective tissue dysplasia.
METHODS. The primary method for diagnosing DST is a questionnaire that was developed based on diagnostic criteria for phenotypic traits of T. Milkovskaya-Dimitrova, A. Karkashova (1987) and L. Abbakumova (2006). It includes four sections: in the first section, parents themselves note the presence of certain signs (increased flexibility, curvature of the spine, flat feet, abdominal wall abnormalities, allergic rashes, behavioral and sleep disorders, joint hypermobility); in the second section, medical professionals noted multiple organ pathology in children (malformations of the cardiovascular system, visual impairment, infectious diseases, developmental delay); the third section confirmed the presence or absence of similar signs in close relatives, and the fourth section included family variants of hyperplasticity, i.e. areas of activity with increased skin flexibility and joint hypermobility (acrobats, ballerinas, dancers).
This survey of parents was conducted in children's city polyclinics in Belgorod from 01.12.2018 to 01.12.2019 by random sampling.
Inclusion criteria: children aged from 1 year of life to 18 years living in the Belgorod region.
Exclusion criteria: children who are one year old without hair due to unformed anatomical and morphological features of the body [4].
During the initial diagnosis of DST, information from 800 children was collected through questionnaires. Based on the inclusion/exclusion criteria, data from 798 children were analyzed, including 412 boys (51.62%) and 386 girls (48.37%). The ratio of boys to girls was 1:1.
The Microsoft Excel 2010 program was used to process the received data.
RESULTS. For the analysis of phenotypic manifestations, taking into account the age category, 798 children were divided into three groups: 1) 1-5 years; 2) 6-10 years; 3) 11-18 years.
In the first age group, 283 (35.4%) children out of the total number. When collecting information, the first section is dominated by the following phenotypic features: a tendency to rash 80 (28.3%), behavioral and sleep disorders 69 (24.4%), hyperelasticity of the skin 67 (23.7%), joint hypermobility 63 (22.3%), "bad" teeth 54 (19.1%). The second section is dominated by frequent and prolonged infections 69 (24.4%). The third section was answered positively by 32 (11.3%) respondents, and the fourth section by 58 (20.5%) respondents.
In the second age group, there were 276 (34.5%) children. In the first section, the leading signs were " bad " teeth 87 (31.5%), flat feet 83 (30.1%), allergic rashes 75 (27.2%), joint hypermobility 74 (26.8%), posture 70 (25.4%). The second section was dominated by frequent and prolonged infections 57 (20.6%). The third section was answered positively by 50 (18.1%) respondents, and the fourth section was answered by 66 (24%) respondents.
In the third age group, there are 239 (29.9%) children. In the first section, the dominant phenotypic features can be arranged in descending order as follows: posture disorder 108 (45.2%), flat feet 104 (43.5%), joint dislocations and bone fractures 83 (34.7%), skin hyperelasticity 74 (31%), "bad" teeth 59 (24.7%). In the second section, 88 cardiovascular diseases (36.8%) were in the lead. The third section was answered positively by 47 (19.7%) respondents, and the fourth section was answered by 57 (24%) respondents.
DISCUSSION. According to the data obtained, it is possible to judge the high prevalence of DST, so in the first age group the frequency of occurrence was 39 (13.8%), in the second 54 (19.6%) and in the third 82 (34.3%). In each age group, certain phenotypic features are in the lead, so at the age of 1-5 years, allergic rashes, behavioral and sleep disorders, frequent and prolonged infections dominate. In 6-10 years, "bad teeth" are more common; flat feet and allergic rashes, and in 11-18 years, the main signs are a violation of posture; flat feet; dislocations of joints and bone fractures.
CONCLUSION. The questionnaire developed in the course of the study can be recommended both for General population screening of polygenic connective tissue dysplasia in children, and for establishing a dysplastic phenotype at the primary outpatient appointment with a pediatrician. According to the data obtained, it is possible to judge the high prevalence of DST, so in the first age group the frequency of occurrence was 39 (13.8%), in the second 54 (19.6%) and in the third 82 (34.3%).
Thus, the diagnosis of DST should be comprehensive, i.e. not only objective examination and data collection, but also the appointment of special molecular genetic studies to prevent complications and disability in children.

About the authors

Yulia Vladimirovna Stepenko

Author for correspondence.
Email: julia.v.stepenko@gmail.com
ORCID iD: 0000-0002-7414-7326
SPIN-code: 8192-8192
Russian Federation

Miroslava Mikhailovna Linnik

Email: slava0927kh@mail.ru
ORCID iD: 0000-0001-8757-2826
SPIN-code: 8721-9850
Russian Federation

References