Журнал «Здоровье ребенка» 8 (51) 2013

Down syndrome (DS) is the most common chromosome abnormality, affecting between 1 in 800 and 1 in 1000 births, with no gender, ethnic or geographic variation among parents of the same age.

The prognosis in the first years of life is determined by the presence of congenital visceral abnormalities and decreased adaptivity. A major problem in the newborns with DS is muscular hypotonia.

The most of children with DS have smaller growth parameters than healthy peers; their degree of weight deficit can vary from moderate, with the presence of hypostatura, to severe, even in correspondence to their height deficit.

The existing data about the development of children with DS at different stages of childhood and the basic approach to their rehabilitation are mostly provided by foreign researchers; the criteria for medical surveillance for these patients are still uncertain.

Materials and methods. Data concerning perinatal history, physical development, somatic health status of 35 children from 1 month to 3 years old with Standard Trisomy 21 have been analyzed; all of the patients were undergoing a course of rehabilitation on the basis of «Early Intervention Institute».

Discussion and interpretation of the results. 1/3 of the patients with DS were born to primigravida mothers (35.71 %). 46.43 %  of the patients’ mothers were more than 30 years old by the time of conception; 28.57 % of the fathers were more than 35 years old.

The course of the pregnancy was normal in 19.21 % of the mothers; the rate of pathologies was practically equal for: anemia (26.92 %), gestoses (26.92 %), and blood group or Rh factor incompatibility (19.21 %). Notable is the fact that almost 50 % of the mothers had more than one pathology. The delivery was abnormal in 88.0 % of cases, being premature (24.0 %), powerless (20.0 %), or rapid (20.0 %). 1/5 of the patients were born in the state of asphyxia of various degrees.

At birth, 61.50 % of the patients had the body mass ranging from 3000 to 3500 g. Further, from the first months of life, 82.61 % of the patients began to manifest a delay in their physical development. By the time of the examination, 17.39 % of the patients only (14.29 % of the girls and 22.22 % of the boys) had height and weight parameters corresponding to normal for their age. The boys with DS were characterized by a simultaneous height and body weight deficit; the girls mostly manifested delayed height without body weight deficit.

The peculiarities of the development of children with DS during first year of life include significant difficulties with organizing their feeding indicated by 2/3 of the mothers (weak suckling, regurgitation, defecation disorders such as constipation). Signs of maldigestion, such as malabsorption, were registered in 28.9 % of the patients; the findings of coprological examination indicated lactase deficiency or a less frequent gluten deficiency which required nutritional correction.

Other remarkable features were delayed teething (more than half the patients (56.25 %) had their first tooth at the age of 10–12 months) and an abnormal order of tooth appearance with no clinical signs of rickets (and no delayed teething in 1/3 of the patients).

Psychomotor development of the patients had significant particularities, such as delay of statokinetic development.

The cardiovascular state of the children with DS requires a special attention. 1/2 of the patients had a functioning foramen ovale; 23.08 % of the patients had a non-critical size secondary atrial septal defect. 23.08 % of the patients had combined congenital heart defects, for which 6 patients of 7 had cardiac surgical operations at the age of 6–12 months, and 1 was under cardiac surgical surveillance.

Congenital malformation of other organs was found in three cases only: 1 patient (2.86 %) with a congenital duodenal atresia with annular pancreas (surgically reconstructed at newborn age) and two girls operated for congenital cataract and a congenital lacrimal duct obstruction.

Clinical inspection, laboratory examination and ultrasound of the thyroid revealed hypothyroidism in 2 of 16 patients (12.5 %) who were administered L-thyroxin replacement therapy.

Conclusion. Children with DS have certain particular features of their development and functioning of main body systems. In medical surveillance of such children, this fact should be majorly considered by the pediatrician, because their health status determines the extent of their individual therapeutic and rehabilitation programs. Their abnormalities manifest themselves mostly as anatomical particularities of cardiovascular system, thyroid gland, and functional digestive disorders. The awareness of the parents regarding the health status of their children is significant for the correction of severe developmental defects (i.e. timely operative intervention) and functional disorders, mostly requiring a correction of their condition. Team work of different specialists (medical doctors, rehabilitation doctors, speech therapists and others) can provide the most essential physical and social adaptation of such patients at their early age.