Down's Syndrome


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Down's syndrome

[′dau̇nz ‚sin‚drōm]
(medicine)
A syndrome of congenital defects, especially mental retardation, typical facies responsible for the term mongolism, and cytogenetic abnormality consisting of trisomy 21 or its equivalent in the form of an unbalanced translocation. Also known as mongolism; trisomy 21 syndrome.

Down’s Syndrome

 

a form of congenital feeblemindedness; first described in 1866 by the English physician L. Down, who called the condition mongolism.

An anomalous set of chromosomes lies at the basis of Down’s syndrome. Persons affected with the syndrome have 47 chromosomes in their cells instead of the usual 46 (that is, three instead of two chromosomes in the 21st pair). This disruption (trisomy) of the karyotype occurs when a separation of the chromosomes of the 21st pair has occurred during maturation of the germ cell in the mother and the formed egg cell contains 24 chromosomes; the causes have not as yet been studied. Patients with Down’s syndrome present a characteristic appearance: round face, short nose with a wide bridge, slanted eyes with a skin fold at the corner, half-opened mouth, large tongue, sparse teeth, and an anteriopos-teriorly flattened head. Muscular weakness, loose joints, retarded physical development, distended abdomen, and underdeveloped sexual organs are also noted. Down’s syndrome is often accompanied by heart disease and impairment of vision. The degree of mental underdevelopment varies from complete idiocy to slight degrees of mental deficiency. Patients are inclined to imitativeness; they are basically affectionate, good-natured, and friendly. Treatment is largely ineffective; hormonal preparations and glutamic acid are used. Education is offered in auxiliary schools. Occupational therapy plays an important role in the treatment and education of patients.

N. D. MIKERINA

References in periodicals archive ?
Worldwide, one out of 980 babies is born with Down's syndrome, but in the UAE the chances are one in 630, Rebecca said.
He has now pledged his support to help reach out to the "hidden" adult population of people with Down's syndrome in Colne Valley with the association.
org - especially for GPs and health professionals with detailed information on the common medical issues that can affect people with Down's syndrome.
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But after a night of research on the internet they came across Darlington's Education Centre for Children with Down's syndrome, which cares for children with the condition from across the North East.
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It concluded that the Government's policy to encourage children with Down's Syndrome to attend mainstream schools was failing because of a lack of training and resources.
People with Down's Syndrome are also keen to speak out about their own lives and ambitions.