Zespół Downa – co to jest?

Zespół Downa to przede wszystkim nie choroba, to wada genetyczna. 

Zespołem Downa nazywa się zestaw cech charakterystycznych spowodowanych obecnością w każdej komórce organizmu dodatkowego chromosomu 21 (jest to tzw. Trisomia 21, która występuje u Marysi i dotyczy ponad 90% przypadków). Cechy fizyczne jak i psychiczne powstają w wyniku takiego zaburzenia równowagi w materiale genetycznym, co z kolei zakłóca prawidłowy program rozwoju psychicznego i fizycznego. Pierwszy raz na odmienność osób ze specyficznymi cechami wyglądu i upośledzeniem umysłowym zwrócił uwagę w 1866 r. angielski lekarz John Langdon Down – od jego nazwiska pochodzi nazwa zespołu. Dopiero w 1959 r. we Francji odkryto w komórkach krwi obwodowej obecność dodatkowego chromosomu w 21 parze. Później zaobserwowano również inne dwie postacie, jakimi są translokacja i postać mozaikowa. Przyczyny, które doprowadzają do nie rozdzielenia się chromosomów pary 21 podczas podziału komórek rozrodczych, nie są jeszcze poznane. Zespół Downa występuje wśród ludzi wszystkich ras, klas społecznych, niezależnie od poziomu rozwoju ekonomicznego i we wszystkich krajach. 

Cechami zewnętrznymi, na podstawie których diagnozuje się u dziecka zespół są:

- skośne ustawienie szpar powiekowych

- wąskie i krótkie szpary powiekowe

- płaski grzbiet nosa, nos stosunkowo mały (twarz sprawia wrażenie płaskiej)

- głowa mniejsza niż przeciętnie, tył głowy często spłaszczony

- uszy małe i nisko osadzone- usta małe i raczej wąskie, jama ustna zwykle mniejsza niż u innych dzieci

– z tego powodu język ma za mało miejsca i ma tendencje do wystawania (ponadto mięśnie żuchwy są wiotkie a usta są z tego powodu rozchylone), podniebienie jest wysoko wysklepione

- krótsza szyja i fałdy skórne po bokach szyi i na karku (zanikające w miarę wzrostu dziecka)

- kończyny górne i dolne są krótkie w stosunku do długości tułowia, dłonie i stopy szersze i krótsze, często występuje większa przerwa pomiędzy kciukiem i dużym palcem a pozostałymi palcami.

- słabe napięcie mięśni (hipotonia), wiotkie są również stawy

- cienka i wrażliwa skóra o marmurkowatym wyglądzie, nasilającym się zwłaszcza, gdy dziecko zmarznie (dzieci mają tendencją do szybkiego wychładzania się lub przegrzewania)

- niższa niż przeciętnie masa urodzeniowa i długość dziecka (dzieci z zespołem Downa rosną wolniej a jako osoby dorosłe są niższe w stosunku do ogólnej średniej wzrostu) 

Jeśli powyższych cech jest co najmniej 6 wykonuje się badanie genetyczne celem potwierdzenia wady (pojedynczo takie cech występują również u osób zdrowych i nie stanowią podstaw do wykonywania szczegółowych badań). W sumie stwierdzono około 300 cech charakteryzujących zespół Downa. Poza różnicami fizycznymi charakterystyczne dla zespołu Downa są również określone schorzenia. Są to między innymi:

- wady serca różnych postaciach (będące w przeszłości główną przyczyną dużej umieralności osób z zespołem Downa)

- epilepsja

- zaburzenia w funkcjonowaniu gruczołu tarczycy (wczesne wykrycie zaburzeń w gospodarce hormonalnej ma ogromne znaczenia, ponieważ nieleczona niedoczynność tarczycy prowadzi do spowolnienia rozwoju umysłowego i innych problemów zdrowotnych)

- szybsze starzenie się organizmu

- wada słuchu

- wada wzroku

- obniżona odporność organizmu

- dolegliwości ze strony układu pokarmowego

- częste infekcje górnych dróg oddechowych ze względu na wrażliwe błony śluzowe i oddychanie przez usta  

Wbrew powszechnemu przekonaniu o tym, że osoby z zespołem Downa są upośledzone umysłowo, nie można tego jednoznacznie stwierdzić. Dzieci rozwijają się najczęściej ze znacznym opóźnieniem, jednak dzięki wcześnie podjętej rehabilitacji ruchowej i intelektualnej są w stanie nadrobić niedomagania spowodowane wadą genetyczną. Dzięki coraz większej wiedzy medycznej na temat zespołu Downa, osoby nim dotknięte mają niewspółmiernie lepsze szanse na prawidłowy rozwój i leczenie wad wrodzonych niż to miało miejsce kilkanaście lat temu i dawniej. Na rozwój dziecka mają wpływ warunki środowiskowe, w jakich wzrasta i odpowiednia opieka specjalistów różnych dziedzin. Niewątpliwie dzieci urodzone z zespołem Downa wymagają ćwiczeń i wielostronnej stymulacji rozwoju od pierwszych tygodni życia (program wczesnej interwencji), jednak owocem tych wysiłków może być nawet całkiem prawidłowy rozwój. Niektóre osoby z tą wadą uczęszczają do normalnych szkół, a nawet studiują (choć są to wyjątki). Tak więc upośledzenie umysłowe, chociaż często towarzyszy zespołowi Downa, nie jest regułą.

Ponadto dzieci z zespołem Downa mimo zaburzeń w materiale genetycznym dziedziczą wiele cech fizycznych i psychicznych od rodziców. Rozwijają własne talenty i zainteresowania, są aktywne sportowo, grają na instrumentach, tańczą, malują. Niestety większość z nas nie zna problemu osób sprawnych inaczej i nie wie, że mają one takie same potrzeby jak my i mimo swych niedomogów fizycznych lub intelektualnych chcą żyć pełnią życia. 

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