Down's syndrome (syndrome)

down syndromedown's disease (synonym: down's syndrome, Langdon down's disease, ambrilia) is one form of mental retardation, which retarded mental and physical development combined with a unique appearance sick and the failure of many endocrine systems. This disease chromosomal etiology (see Hereditary diseases).
Clinical manifestations of the disease are very characteristic (Fig): the patient small head, narrow eye slits, slanting eyes, skin folds at the inner corners of the eyes (epicanthus), flat face with prominent zygomatic arches, small pugovicy nose, deformed ears, crooked little fingers, thick tongue; mouth usually half-open. Already in the first year of life is becoming a noticeable lag in the development of mental and motor function. Children later begin to sit and walk. Muscle sharply gipotonica, the volume of movements in joints increased. Training is possible only in special schools. The prognosis is unfavorable.
The treatment is ineffective. Attempts are made of treatment with the extract of aloe - children under 5 years 0.2-0.3 ml, over 5 years - 0.5 ml subcutaneously (course 30 injections), Cerebrolysin - 0.1 ml of 1 year of life intramuscularly (course 30 injections), vitamin B12- 100-200 mcg intramuscularly (course 20 injections), glutamic acid 0.1 g for 1 year 2-3 times a day inside; with a sharp infringement of function of a thyroid gland - the tireoidina (by a physician); start with small doses (1 to 5 mg a day and, gradually increasing the dose, reaching up to 0,01-0,05 grams per day (treatment within 1 month).
Due to the lack of resistance to infection of the children with down syndrome periodically need to antibacterial drugs. It is advisable to be held in the mental hospital karyological examination (study of chromosomes) patient and parents to address the question, how great is the danger of birth into the family of patients with down syndrome children in the future. Cm. also Mental retardation.