| Abstract | Down sindrom jedan je od najčešćih genetskih poremećaja. Opisao ga je John Langdon Down 1866. godine i definirao sve simptome stanja. Down sindrom može se javiti u djece majki bilo koje životne dobi, ali češće se javlja kod starijih žena. Ukoliko majke žele saznati ima li njihovo dijete jednu od kromosomopatija odlaze na testiranje. Tijekom povijesti djeca koja su bolovala od Down sindroma morala su se držati podalje od drugih ljudi i djece, i nazvali su ih mongoloidnom djecom, odnosno mongoloidima. 1959. godine je Jerome Lejeune, francuski genetičar, otkrio da pacijenti s Down sindromom posjeduju još jedan dodatni kromosom na 21. paru.
Razlikujemo 3 tipa Down sindroma;
prvi je klasična trisomija odnosno primarni ili regularni tip sindroma,
drugi je translokacijskog oblika,
treći je mozaički tip Down sindroma
Prema opisu kliničke slike postoji preko 50 kliničkih obilježja Down sindroma i najvažniji su kratki i široki vrat s previše kože i masnog tkiva, kosi položaj očnih otvora, okruglo lice, mišićna hipotonija te promjene na udovima. Kod osoba s Down sindromom javlja se usporeni psihomotorni razvoj, zdravstvene i mentalne poteškoće, oštećenja sluha, epilepsija i leukemija. Djeca, mladi i starije osobe mogu učestvovati u raznim sportskim aktivnostima i događanjima te je kod njih važno u najranijoj životnoj dobi primijeniti individualni pristup. Ubrzo nakon poroda provode se neurorazvojne vježbe, primjenjuje se Vojta i Bobath terapija, terapija vodom – Halliwick koncept te senzorna integracija. |
| Abstract (english) | Down syndrom is the most common genetic disorder. It was described by John Langdon Down in 1866, who defined all the symptoms of the condition. Down syndrom can occur at children of mother's at any age, but mothers age increases the risk of having the child with it. If mother’s wat to find of if their children have any of chromosomeopathy they have to be tested. Throughout history, children with Down syndrom, had to be kept away from other people and children, and where cold Mongoloids. In conducting the research to find out what could be the cause of the syndrom, doctors assumed that condition was caused by the chromosal error. In 1959 Jerome Lejeune, a Frenc geneticst, discovered that patients with Down syndrom have and extra chromosome on the 21st pair.
We distinguish three types of Down syndrome:
The first is clasic trisomy, i.e. the primary or regular type of the syndrome
The second is a translocation form
And the third is the mosaic type of Down Syndrome
According to the description of the clinical picture, there are over 50 clinical features od Down syndrome, but the most important are short and wide neck with too much skin and fatty tissus, an oblique position of the eye sockets, a round face, a muscle hypotonia and changes in the limbs. People with Down syndrome have a slow psychomotor development, health and mental difficulties, hearing impairment, epilepsy and leukemia. Children, young people and as well as elderly people, can participate in various sports activities and events, and it is important to apply an individual approach at and early age. Soon after the time of birth, neurodevelopemental exercises are carried out, Vojta and Bobath therapy, water therapy – Halliwick concept and sensory intergration are applied. |
