From Big Medical Encyclopedia

DOWN DISEASE (J. L. N of Down, English doctor, 1828 — 1896; synonym Down syndrome) — the chromosomal disease, one of forms of an oligophrenia, at a cut backwardness of intellectual development is combined with a peculiar appearance of the patient. It is for the first time described by Down in 1866. Meets frequency of 1 on 500 — 800 newborns. Both floors are surprised equally often.

Anomaly of chromosomal complement is the cornerstone of a disease. The overwhelming number of patients has 47 chromosomes in all cells. The excess chromosome is one of chromosomes of the 21st couple in this connection a disease sometimes call «a trisomy on the 21st chromosome» (47, 21+). Communication of frequency of the birth of patients with increase in age of mother is shown. It suggests that the excess 21st chromosome is result of not discrepancy of chromosomes during maturing of a female sex cell. In some cases, especially at the birth of children with Must be in one family repeatedly, find a translocation of the 21st chromosome on one of chromosomes of group D or group G in patients (see Hr omosomny set ). In rare instances at Must be find the mosaic of chromosomal complement consisting that one cells have normal set of 46 chromosomes, others — with a lipshy 21st chromosome. Usually in these cases find the erased symptoms of a disease in the patient.

Pathological anatomy

At morfol, a research of a nervous system of the died patients reduction of the sizes and weight of a brain, an underdevelopment of frontal lobes is characteristic; reduction of side ventricles; furrows and convolutions of the brain are poorly differentiated. Regarding cases anomalies of development of a brain and large brain vessels meet. Gistol, a research reveals disturbance of differentiation of nervous cells and insufficient myelination of nerve fibrils of a head and spinal cord.

Almost all endocrine glands, especially thyroid gland, bark of adrenal glands and gonads, gipoplastichna. Internals are reduced in sizes. In a liver — fatty vacuolation, fibrosis. The aorta is narrow, walls its thin, large vessels — the smaller sizes. Inborn heart diseases are frequent.

Clinical picture

Fig. 1. A child's face, having a Down syndrome: slantwise the located palpebral fissures, the flattened wide nose bridge.
Fig. 2. The diagrammatic representation of palpebral fissures at the healthy child (1) and the child at a Down syndrome (2), the characteristic additional skin fold at an internal corner of an eye (epikant) is expressed.
Fig. 3. A palmar surface of a brush of the healthy child (at the left) and the child of the same age at a Down syndrome (on the right): a brush short and wide, fingers are as if chopped off; 1 — triradius t' (a point in which papillary lines of three directions meet); 2 — the characteristic of a Down syndrome t which is highly located additional triradius; 3 — a cross fold.

In the expressed cases Must be the combination of mental retardation to set of a number of signs is observed: slantwise the located palpebral fissures (fig. 1), the wide flattened nose bridge, an additional skin fold at an internal corner of eyes (an epikant, fig. 2), a half-open mouth, the increased language with hypertrophied nipples and deep furrows, the high vaulted sky, the deformed auricles, a short neck; on the periphery of an iris whitish ochazhka — Brashfild's spots are often visible; feet and brushes short and wide; fingers are as if chopped off, the little finger is shortened and bent, has one flexion fold instead of normal two; on a palm often find a cross fold and a high arrangement of an additional triradius of t" (fig. 3) representing a point, in a cut papillary lines of three directions meet; on feet the interval between I and II fingers is increased. Patients since the birth lag behind in growth, late begin to hold the head, to sit, go. Late and in an unusual order the teeth having irregular shape are cut through. Sexual development is sharply detained. Ability to a child-bearing is described in isolated cases. Approximately a quarter of patients has inborn heart diseases.

In blood serum of patients increase in concentration of immunoglobulin G and decrease in immunoglobulin M is noted. Resilience to infectious diseases is reduced.

Changes of a nervous system dominate in a wedge, to a picture Must be. At most of patients the circle of the head is reduced, a skull of a tower form (microbrachicephalia). From the first days of life of the child the hypomyotonia comes to light; Moro's reflex (see Newborn) is absent. Weakness of convergence is noted the squint which is usually meeting (see. Convergence of eyes ), asymmetry of a front innervation, horizontal nystagmus (see). At a part of children with Must be disorders of coordination which are shown during the performance of locomotory tests, thin movements are found. All patients have vegetative and endocrine frustration: xeroderma, predisposition to completeness, dermatitis, dermographism red resistant, dystrophic changes of bones. With age at patients the tendency to normalization of a muscle tone is noted, coordination of movements improves.

Mental disorders hl are characterized. obr. weak-mindedness as a mental underdevelopment — oligophrenias (see). The diffusion nature of weak-mindedness is noted, at Krom not only the intelligence and thinking, but also other mental functions are underdeveloped (perception, attention, memory, the speech, emotionally - the strong-willed sphere). Along with it the preferential underdevelopment of the young functions which are most differentiated ontogenetically — thinking and the speech is characteristic at relative safety of evolutionarily more ancient elementary functions — emotions and instincts.

A mental underdevelopment at Must be in 75% of cases reaches degree of a deficiency of intellect, in 20% — an idiocy and only in 5% — moronities. Judgments of patients are primitive, the abstract thinking is unavailable to them. The speech develops late, the lexicon is poor, a pronunciation with defects. The tutopodvizhnost and stagnancy of thinking, a bad pereklyuchayemost are characteristic, patients are easily lost in an unusual situation. The attention is unstable, easily distracted. Mechanical memory is rather well developed. The expressed imitation is characteristic. Emotions of patients are a little differentiated, they are passive and dependent.

Patients differ in the increased suggestibility. On features of temperament the option meets more often Must be with dominance of an eretichnost, i.e. excitability and irritability in combination with motive concern, torpidnost are more rare (slackness, passivity and psychomotor slowness). Signs of early involution which manage to be noted thanks to the increased life expectancy of patients now with are observed Must be.

Diagnosis it is usually simple, in most cases is established already in maternity hospital. Must be to differentiate most often it is necessary with a hypothyroidism (see). At erased a wedge, signs the cytogenetic research is necessary (see. Cytogenetics ). The last is carried out also in cases of determination of risk of a recurrent disease in a family, especially at young parents (a possibility of a translocation of chromosomes).


Specific methods of treatment does not exist yet. However complex medicamentous therapy in combination with to lay down. physical culture, massage, pedagogical influence, occupations with the logopedist promotes improvement of a condition of patients. Apply various methods of stimulation of mental and physical development (extract an aloe, Cerebrolysinum, Gammalonum, a vitreous, Niamidum or nuredal), vitamin therapy, endocrine drugs (Prephysonum, Thyreoidinum), glutamic acid, lipocerebrinum.

Forecast concerning life rather favorable if there is no heavy inborn heart disease. The forecast concerning an absolute recovery bad.

Bibliography Down syndrome, under the editorship of E. F. Davidenkova, L., 1966, bibliogr.; Davidenkova E. F. and Lieber m and N I. S. Klinicheskaya of the geneticist, L., 1975, bibliogr.; Multivolume rukovodst? in on pediatrics, under the editorship of Yu. F. Dombrovskaya, t. 10, page 572, M., 1965; Fundamentals of cytogenetics of the person, under the editorship of. A. A. Pro-kofyevoy-Belgovskoy, page 338, M., 1969; Sukhareva G. E. Clinical lectures on psychiatry of children's age, t. 3, page 72, M., 1965; S. E's Benda. Down’s syndrome, N. Y. — L., 1969, bibliogr.; Crome L. S. a. Stern J. Pathology of mental retardation, L. — Edinburgh, 1972; Down J. L. Marriages of consanguinity in relation to degeneration of race, Lond. Hosp. clin. Lect. Rep., v. 3, p. 224, 1866; Down’s syndrome (mongolism), ed. by V. Apgar, N. Y., 1970; Smith D. W. a. Wilson A. A. The child with Down’s syndrome (mongolism), Washington, 1972.

B. V. Lebedev; M. Sh. Vrono (psikhiat.), E. I. Gusev (not BP.).