the analysis of frequency, clinical implications, diagnostics and treatments of congenital developmental anomalies at children with a syndrome of Down

For definition of frequency and structure of congenital developmental anomalies at children with SD in investigated group inspection according to the schedule (tab. 2 see) has been spent.

233 (45,33 %) the child with SD, that is almost half of children had no congenital developmental anomalies.

Analyzing tendencies of frequency of a birth of children with SD without VPR in the conditions of the prenatal diagnostics spent in our country since 2000, it has appeared, that frequency born without VPR fluctuates within 32,0-56,25 % (fig. 14)

Drawing 14. Percent of children with SD, born with 1999 for 2008 without VPR.

Thus, without VPR it does not become perceptible tendencies to augmentation of 21st chromosome born with a trisomy. Moreover, with 2006 for 2008 it is number decreases, it is possible at the expense of more careful inspection of all newborns with SD. Thus, absence of anomalies of development in a foetus at carrying out of prenatal ultrasonic diagnostics cannot be criterion of an exception at it SD.

One of principal causes of an early mortality of children with SD are congenital heart diseases [72, 50] which frequency, according to the literature, reaches 50 % and, in the sum these children make 7 % from all babies with congenital heart diseases [135].

Congenital heart diseases are diagnosed at 218 (45,51 %) from 479 surveyed babies (a Fig. 12). At 43 (8,98 %) from the general number of children with a trisomy of 21st chromosome - the general open atrioventricular channel.

Persistentsija hemodynamically significant open arterial duct (OAP) it is established at 13 (2,71 %) children with a trisomy of 21st chromosome (tab. 6). In the subsequent, about three months are elderly, to these children operative correction is spent. Intraoperatsionnyh complications it did not become perceptible. The postoperative period proceeded smoothly.

Table 6. Results of ultrasonic research of heart at children with SD.

Results EHOKG of research at children with SD number of %

Congenital heart disease 218 45,51
Persistentsija fetalnyh communications 64 29,36
OAP 13 2,71
MARS 52 14,29
prolaps the mitral valve 15 4,12
Postgipoksichesky cardiomyopathy 1 0,27
Norm 21 4,38

At 64 (29,36 %) from surveyed children it is diagnosed hemodynamically insignificant persistentsija fetalnyh the communications, demanded only dynamic observation.

At 21 (4,38 %) the child with SD data for congenital anomalies of development from cardiovascular system are not taped. Nevertheless, these children demand the further observation with carrying out of electrocardiographic and ultrasonic research of heart.

In structure of anomalies VPS at children with SD defect of an interatrial septum (DMPP) which have been diagnosed for 66 children (30,28 %) is more often became perceptible.

The general atrioventricular channel (OOAVK) is taped at 52 (23,85 %), defect of an interventricular septum (DMZHP) at 51 (23,39 %), a combination of defects of interatrial and interventricular septums (ДМПП+ДМЖП) at 24 (11,01 %) children with SD. Other defects, such as tetrada Fallo, a stenosis of a pulmonary artery and others, in the sum are found out in 25 children that has made 11,47 % (fig. 15).

Drawing 15. Structure VPS at children with SD.

To children ultrasonic research of heart is more senior year it was spent

Annually. Dysfunction of the mitral valve with a regurgitation has been taped
At 15 (4,12 %) children with SD to 8-year-old age. Small anomalies of development hearts (Mars) in the form of presence of additional chordas in a left ventricle cavity it became perceptible at 52 (14.29 %) children with a trisomy of 21st chromosome. At 1 (0,27 %) the child the cardiomyopathy is taped postgipoksicheskaja.

At newborns with SD quite often it becomes perceptible morfofunktsionalnaja immaturity (on our data, it meets in 19 % of cases). At children with morfofunktsionalnoj immaturity the sizes of defect of an interatrial septum which is surveyed as an open oval window are often underestimated. However even at the small sizes of defect significant hemodynamic disturbances can become perceptible and develop a circulatory unefficiency. Absence of treatment leads to fast development of a high pulmonary hypertensia and a pneumonia in such patient, not seldom refractory to therapy.

As a clinical example the case history is resulted:

Andrey B, from the first, proceeding without features, pregnancy. Labours in time. Mass of the boy at a birth - 3000, Length - 51см, an estimation on scale APGAR 8/8б. A condition of the child after a birth the satisfactory. Signs morfofunktsionalnoj dismaturities, fenotipicheskie signs SD became perceptible. For the purpose of acknowledgement of a chromosomal pathology was blood for karyotype definition is taken. The regular trisomy of 21st chromosome is taped. From first days of a life at thorax auscultation systolic hum became perceptible. For an exception of anomalies of development of heart it is spent EHOKG and the open oval window in the size of 4 mm is revealed. The child has been written out home under observation of the local pediatrist and the cardiologist on a residence. Further the boy became flaccid, reluctantly took a breast, frequent regurgitations, a rare chair became perceptible. For 1 month the child has put on weight 210 At survey attracted attention circulatory unefficiency signs: a dyspnea in rest, a moderate tachycardia. The boy has been referred in NTSSSH to them. Bakuleva where congenital defect is diagnosed
Heart developments - Defect of an interatrial septum in the size of 6 mm with appreciable disturbance of a warm hemodynamic. On the thorax roentgenogram expansion of roots of lungs, KTI = 57 % is taped. According to an electrocardiogram: a deviation of an electric axis of heart to the right. At the age of 4 months operative treatment of Defect of an interatrial septum is spent. The postoperative period proceeded smoothly.

At 23 (10,55 %) from investigated children with VPS the pulmonary hypertensia has developed. 20 (9,17 %) children with SD and VPS have transferred a pneumonia to the period before operative correction of a heart disease. Operative treatment potrbovalas 119 (51,52 %) to children with VPS and OAP.

Besides congenital anomalies of heart at children with SD disturbances of a rhythm of heart have been taped. Among surveyed children, arrhythmias met at 27 (5,4 %) (tab. 7).

Table 7. Disturbances of a rhythm at children with SD.

Rhythm disturbances Number %
Atrioventricular blockade 4 14,81
Elongation intervalv QT 3 11,11
CLC-syndrome 1 3,7
WPW-syndrome 2 7,41
ekstrasistolii 1 3,7
Sinusovaja bradiardija 6 22,22
Sinusovaja a tachycardia 10 37,04

The pathology is presented by a syndrome of elongation of interval Q-T, syndrome WPW (WPW-syndrome) and syndrome CLC (a syndrome of the Clerk — Levi — Kristesko). At 4 (0,81 % from the general number) atrioventricular blockade has been taped. Blockade have been bound to a heart disease and have arisen after definitive repair OOAVK with the subsequent

Electrocardiostimulator implantation. All children were observed in specialised kardiohirurgicheskom the centre and received corresponding necessary treatment.

Congenital defects of a gastroenteric tract are diagnosed at 25 (4,86 %) children with SD. In structure of anomalies of these defects the most part (48 %) the atresia 12 perstnoj makes intestines which is diagnosed for 12 children, a quarter from which - a membrane duodenum (fig. 16).

Drawing 16. Structure of developmental anomalies of a gastroenteric tract at children with SD.

The developmental anomaly second for prevalence which have been found out at 4 (16 %) babies with SD - a fundament atresia. Two children with illness Girshprunga (8 %) have been operated on the first month of a life. It is as much operated children with a trisomy of 21st chromosome concerning a pylorostenosis. Developmental anomaly of a pancreas is found out in 1st (4 %) the child - an annular pancreas. The diagnosis at this child has been established in 11 months. Clinical implications of the given disease in the form of regurgitations up to vomiting by "fountain" at the child have appeared in 9 months of a life after a definitive repair of a congenital heart disease of defect of an interventricular septum. One child (4 %) from 25 has been operated concerning Mekkeleva a diverticulum. The intestine invagination has been established also at one (4 %), and the dolichocolon is diagnosed for one more (4 %) the child with a trisomy of 21st chromosome.

Difficulties of feeding at children with SD meet often enough. Regurgitations on the first year of a life became perceptible at 101 (19,65 %) the baby with SD. Two children with a trisomy of 21st chromosome (0,39 %) were on zondovom feeding. One of them was fed through a probe till 6 months, other child

- More than a year. At the second patient zondovoe feeding has been caused by serious neurologic semiology against congenital defect of a brain

- The expressed nanocephalia. The circle of a head at this child at a birth has made in time 29 sm, in 1 year - 31см.

On thoracal feeding about 6 months and more longly there were only 28,6 % of children with SD. The Principal cause of absence of thoracal feeding - a hypogalactia of mother against psiho-emitsionalnogo the stress caused by the diagnosis of a syndrome of Down at the child. Thus, the way of the report to parents medical infomatsii, and also early psychological support of a family promotes fast adaptation of parents in the conditions of stress and, finally, to conservation of thoracal feeding.

Occurrence of a milk teeth in babies with a trisomy of 21st chromosome later enough. Middle age of a teething at children with SD has made 10,1 ±3,4 months. Later prorezyvanie negatively affected terms of schooling of children to chewing and swallowing of firm nutrition. There were difficulties with feeding up introduction in a ration of the child. Children refused firm nutrition, arose poperhivanija and vomitings during feeding. Later introduction of a firm foodstuff, absence of chewing, and also

Constipations suffered 182 (35,41 %) the child with SD. As a rule, constipations became perceptible since a birth and throughout first two years of a life. A chair dense, the big diameter, it is frequent as "sheep". The good therapeutic effect was observed at appointment of an adequate drinking regimen and lactulose preparations in an age dosage. The diet rich with a fat also rendered favorable effect at children is more senior 7-8 months. At obstipations at children with SD the hypothyrosis and illness Girshprunga exception is expedient.

At 7 (7,45 %) babies with SD it is taped laktaznaja insufficiency and at the majority had transitional character. Possibly, fermental insufficiency has been bound with morfofunktsionalnoj immaturity of these children.

For an estimation of frequency and structure of congenital defects of genitourinary system at children with SD results of ultrasonic inspection of kidneys of 276 children with a trisomy of 21st chromosome are analysed. Congenital defects, such as a hypoplasia of kidneys and a multicystosis of kidneys are taped at 6 (2,17 %) from surveyed children. A hydronephrosis and pielektazija are diagnosed at 51 children that has made 18,48 %. Thus, expansion of collective system of kidneys meets almost at every fifth child a trisomy of 21st chromosome. This circumstance should be considered by experts of prenatal diagnostics at consultation of pregnant women and calculations of risk of a chromosomal pathology at a foetus.

Other ultrasonic finds, such as a dystopia of kidneys, dolchatost kidneys, etc. are taped at 30 (10,87 %) children with a trisomy of 21st chromosome.

Any child with SD from investigated sample had no chronic renal insufficiency.

The pathology from genitals met often enough: the cryptorchism became perceptible at 50 (18,31 %) boys with SD, a monorchism - at 7 (2,82 %), a phimosis also at 7 (2,82 %) boys. Anomaly has been found out in one child mocheispuskatelnogo the channel - doubling mocheispuskatelnogo the channel.

Among a congenital pathology of skeletno-muscular system there is a dysplasia of hip joints which has been diagnosed at 19 (3,7 %) children with SD (fig. 17) is more often.

Rachitis have transferred 12 (2,33 %) children with SD early age.

Drawing 17. Structure of congenital defects of a locomotorium at children with SD.

Immaturity of hip joints met at 7 (1,36 %) babies a trisomy of 21st chromosome. The congenital talipes is taped at 6

(1,17 %), congenital krivosheja at 8 (1,56 %) children, at one child from investigated group - a whirlbone congenital dislocation (0,19 %).

Congenital anomalies of brushes and feet in a kind sindaktilij/polysyndactylias and polydactylias became perceptible at 14 (2,72 %) children with SD. In some cases of a syndactylia were exclusively cosmetic defect, and in some operative correction for restoration of function of the brush promoting harmonious development of a fine motility of the child was required.


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Scientific source Semenova Natalia Aleksandrovna. STATE OF HEALTH of CHILDREN With the SYNDROME of Down. The dissertation on competition of a scientific degree of the candidate of medical sciences. Moscow - 2013. 2013

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