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Skrócony opis zespołu Williamsa.

W 1961 roku nowozelandzki specjalista od chorób serca J. C. P. Williams zauważył, że pewna grupa jego młodych pacjentów wykazuje szereg wspólnych cech. Oprócz dolegliwości sercowo-naczyniowych dzieci te miały charakterystyczne rysy baśniowych elfów (zadarty nos, mały podbródek, wady zgryzu), a także wydawały się być osobami z upośledzeniem umysłowym. Wśród objawów kardiologicznych najczęstsze były szmery sercowe i zwężenie głównych naczyń krwionośnych. Tych pacjentów Williams zakwalifikował do jednej grupy i opisał na podsta­wie ich dolegliwości nową jednostkę chorobową nazwaną zespołem Williamsa.

Ludzie z tym zespołem cierpią na różnego stopnia nadstawkowe zwężenie tętnicy głównej, a w okresie nie­mowlęctwa występują często trudności z przyjmowaniem pokarmu, bóle brzucha i przepuklina. Dzieci zazwyczaj źle sypiają, bywają drażliwe, miewają kolkę wynikającą z pod­wyższonego poziomu wapnia we krwi. Od samego począt­ku są opóźnione w rozwoju fizycznych i umysłowym. Cho­dzenie zaczynają niezgrabnie od 21 miesiąca życia i mają upośledzona kontrolę ruchów precyzyjnych. Ludzie z zespołem Williamsa są wrażliwi na hałas i przedwcześnie się starzeją. Zespół ten występuje stosunkowo rzadko, bo średnio jest to jeden przypadek na dwadzieścia tysięcy urodzeń. Mimo późnego odkrycia zespołu jako jednostki chorobowej badania etnograficzne pokazują, że ludzie z tym zespołem stanowili pierwowzory dla postaci elfów i wróżek z dawnych podań ludowych.

Przyczyną powstawania zespołu Williamsa jest uszkodzenie genów w obrębie siódmego chromosomu. Chodzi konkretnie o uszkodzenie genu odpowiedzialnego za produkcję elastyny genów znajdujących się prawdo­podobnie w jego sąsiedztwie. Kilka z nich odkryto są nimi geny LIM-kinazy I, FZD3 i WSCR1. Substancje te wykazu­ją swą aktywność w mózgu, a zatem prawdopodobnie wpływają na jego pracę.

Według Ewart i jej współpracowników LIM-kinaza I (gen jej ulega uszkodzeniu wraz z genem elastyny) ma związek ze zdolnością oceny relacji przestrzennych.

Osoby z zespołem Williamsa mają często problemy z narysowaniem z pamięci znanych prostych przedmiotów.

Trzeba jeszcze przeprowadzić wiele badań, aby w pełni zrozumieć genetyczne podłoże zespołu Williamsa, ale odkrycie delecji w obrębie siódmego chromosomu i stwierdzenie, iż występuje ona we wszystkich komórkach dziecka wskazuje na to, że schorzenie to u dziecka nie ma związku z trybem życia matki i jej zachowaniem się w czasie ciąży. Przyczyną jest przypadkowa utrata nie­których genów w obrębie siódmego chromosomu w plem­niku lub komórce jajowej jeszcze przed ich połączeniem się i powstaniem zarodka. Oznacza to także, że zdrowe rodzeństwo takiego dziecka nie ma delecji w siódmym chromosomie i nie występują żadne istotne czynniki ryzyka dla ich potomstwa zwiększające prawdopodobieństwo wy­stąpienia tego zespołu. Natomiast osoby chore na zespół Williamsa mają 50% szans na to, że ich potomstwo odziedziczy ten zespół.

„Chromosom 7 jest największym spośród ludzkich chromosomów, które zdołano dotychczas szczegółowo przeanalizować. Okazało się, że zawiera około 1150 genów i 940 tzw. pseudogenów - fragmentów DNA, bardzo przypominających geny, ale zawierających zmiany, które uniemożliwiają im działanie w roli genów.

Na chromosomie 7 znajdują się geny, od­powiedzialne za występowanie i podatność na wiele cho­rób. Zaliczają się do nich, mukowiscydoza, głuchota, chłoniak złośliwy i inne nowotwory. Na tym chromosomie znajduje się także gen, kodujący glikoproteinę P - białko, odpowiedzialne za odporność komórek rakowych na leki przeciwnowotworowe, a także geny, pomagające kontrolować podział i śmierć komórek, geny, odpowiedzialne za zmysł smaku i węchu, a także geny, związane z działaniem systemu odpornościowego.

Szczególnie trudny do przeanalizowania okazał się fragment chromosomu, odpowiedzialny za tzw. zespół Williamsa-Beurena. Ta bardzo rzadka choroba genetyczna powoduje umiarkowane upośledzenie umysłowe, charakte­rystyczną zmianę rysów twarzy i zwężenie aorty. Powiąza­ny z zespołem Williamsa-Beurena obszar chromosomu 7 zawiera duże segmenty DNA z wieloma podwójnymi genami. Ilość zduplikowanych genów jest różna u różnych osób. U dzieci z zespołem Williamsa-Beurena brakuje dużych fragmentów tych zduplikowanych genów, co suge­ruje, że obecność wielu kopii tych genów jest niezbędna do prawidłowego rozwoju człowieka.

Uczeni mają nadzieję, że szczegółowe dane, do­tyczące siódmego chromosomu człowieka, posłużą bada­czom, poszukującym leków na liczne choroby.”1

W 1993 roku stwierdzono, że zespół Williamsa jest wynikiem delecji, czyli ubytku maleńkiego fragmentu jednej z dwóch kopii chromosomu 7 obecnej w każdej komórce. Prawdopodobnie fragment ten zawiera przynajm­niej 15 genów. Dokładne zidentyfikowanie ich pozwoli na­ukowcom podjąć próbę ustalenia, w jaki sposób taki ubytek prowadzi do wystąpienia już zaobserwowanych cech neuroanatomicznych i behawioralnych. Zintegrowane po­dejście w badaniach nad zespołem Williamsa - poszukiwa­nie związku genów z neurobiologią, a następnie z zacho­waniem - może stać się modelem badań nad genetycznym uwarunkowaniem rozwoju i funkcji mózgu oraz określeniem w jaki sposób nasze zachowania i zdolności zależą od naszych genów.

Zadziwiającym w całym zespole jest fakt, iż dzieci mimo niskiego ilorazu inteligencji i upośledzenia wielu funkcji poznawczych mózgu opanowują mnogie i bogate słownictwo, budując przy jego pomocy złożone wy­powiedzi. Wskutek tego zazwyczaj lepiej funkcjonują w społeczności niż np. dzieci z zespołem Downa.

W Salk Institute przeprowadzono badania pośmiertne mózgów osób chorych na zespół Williamsa i okazało się, że ogólna objętość kory ludzi z zespołem Williamsa (podobnie z zespołem Downa) jest mniejsza, ale objętość móżdżku jest normalna. Stosunkowo dobrze są zachowane płaty czołowe i skroniowa część układu lim­bicznego. Układ limbiczny jest istotny dla prawidłowego działania pamięci i odczuwania uczuć. Niezmieniony lub nawet większy niż w populacji ogólnej jest móżdżek nowy (neocerebellum) odgrywający sporą rolę w procesach języ­kowych. Planum temporale odpowiedzialne za funkcje słu­chu i zdolności muzyczne jest zwykle powiększone i lepiej rozwinięte niż u ludzi z populacji ogólnej. Badacze stwier­dzili wręcz rozwój tej okolicy mózgu na poziomie profesjo­nalnych muzyków.

Ludzie z zespołem Williamsa przejawiają zdumiewającą mieszaninę zdolności i ich braku. Na przy­kład nastolatka o ilorazie inteligencji 49 poproszona o nary­sowanie i opisanie słonia wykonała bazgrotę niemożliwą do zrozumienia bez podpisów, podała jednak przy tym bogaty opis słowny. Niektórzy ujawniają też wybitny talent muzyczny.

Osoby dotknięte zespołem Williamsa mogą z po­wodu ograniczeń motoryki i percepcji czuć strach przed wysokością, pokonywaniem schodów, a także nierównymi powierzchniami (np. trawa). Trudno im skupić uwagę na dłuższy czas na jakimś temacie lub zajęciu, ale z drugiej strony potrafią się obsesyjnie zainteresować jakimś detalem lub zjawiskiem. Mowa jest bogata i pełna wyszukanych zwrotów i konfabulacji. Dokładniejsze zbadanie pokazuje, że używają nowych zasłyszanych słów i zwrotów bez ich zrozumienia.

Osoby z zespołem Williamsa mają spowolniony rozwój motoryki zarówno dużej jak i małej oraz wady posta­wy. Wymagają prowadzenia regularnych ćwiczeń rehabili­tacyjnych.

Są przyjacielskie wobec osób dorosłych, poszuku­jąc towarzystwa osób dorosłych, mają jednocześnie problemy z nawiązywaniem kontaktów z rówieśnikami.

Dzieci z zespołem Williamsa wykazują zazwyczaj:


ograniczony czas koncentracji i łatwość rozpra­szania uwagi,

otwartość wobec obcych,

przyjacielskość wobec dorosłych (również ob­cych dorosłych),

potrzebę kontaktu werbalnego z dorosłymi przy jednoczesnych problemach w kontaktach z rówieśnikami,

strach przed wysokością, otwartymi schodami, nierównymi powierzchniami,

nadwrażliwość na dźwięki,

nadmierne (obsesyjne) zainteresowanie nie­którymi przedmiotami i zjawiskami,

niedojrzałość emocjonalną wyrażającą się jako nadreaktywność na zdarzenia, przesadne wyra­żanie smutku, gniewu, strachu, zadowolenia.

Oczywiście cechy te w różnych przypadkach ob­jawiają się z niejednakowym nasileniem.


Urodził się 15 listopada 1989 w ósmym miesiącu ciąży jako wcześniak z małą wagą urodzeniową 2.1 kg. Wychowuje się w pełnej rodzinie, gdzie ojciec prowadzi nieduże przedsiębiorstwo zatrudniające kilku pracowników. Matka zajmuje się głównie dziećmi, pomaga w prowa­dzeniu firmy, studiuje podyplomowo oligofrenopedagogikę na uniwersytecie w Gdańsku. Łukasz ma troje młodszego rodzeństwa, dwie siostry i brata. Jest serdeczny i opieku­ńczy wobec rodzeństwa. Rodzina jest rodziną pełną i wy­stępują w niej prawidłowe relacje pomiędzy poszczególny­mi jej członkami.

Delikatna budowa ciała pozostała mu do dzisiaj. Jest jednak wysoki. Nie sprawiał nigdy kłopotów w żywieniu ani podczas zasypiania. Przepada za potrawami na bazie mleka krowiego (prosto od krowy).

Matka Łukasza nie wyraziła zgody na naukę w miejscowej szkole specjalnej i dlatego na jej prośbę uczęszcza on do szkoły masowej. Obecnie jest uczniem pierwszej klasy gimnazjum i realizuje program szkoły spe­cjalnej w ramach nauczania indywidualnego orzeczonego przez poradnię psychologiczno – pedagogiczną.

Łukasz cechuje się dużą wrażliwością na dźwięki i jest muzykalny. Potrafi po odgłosie pracy silnika pojazdu okre­ślić jaki pojazd przejechał za oknem (marka).

Ma typowe dla dzieci z zespołem Williamsa trud­ności w koncentracji uwagi i szybko się męczy i łatwo za­pomina o odrobieniu pracy domowej, jeśli nie zapisał uprzednio polecenia w zeszycie. Matka Łukasza sys­tematycznie pracuje z synem i nie dopuszcza, by Łukasz miał jakieś zaległości w szkole.

Chłopiec łatwo nawiązuje kontakty ze starszymi od siebie kolegami i koleżankami oraz z dorosłymi. Jest bardzo ufny, ale czasami reaguje nieadekwatnie do docho­dzących do niego bodźców.

Niedawno zaobserwowaliśmy jak agresywnie za­reagował na przypadkowe potrącenie przez jednego z uczniów na holu szkolnym w czasie przerwy między lek­cjami. Ograniczył się co prawda tylko do agresji słownej, ale w jego wypowiedzi pojawiły się zasłyszane wulgaryzmy. Rodzice Łukasza starają się by ich syn nie używał wulgaryzmów. Jako człowiek ma infantylny i naiwny stosunek do otaczającego go świata oraz wykazuje dużą empatię wobec otaczających go osób, często jednak dokonując nadinterpretacji dochodzących do niego sygnałów. Nie mają te cechy niestety przełożenia na dobry kontakt z rówieśnikami w klasie. Przyczyną jest zapewne fakt dużej pobudliwości Łukasza i jego zachowanie w związku z tym faktem na normalnych lekcjach, kiedy potrafił skutecznie zdezorganizować tok lekcji oraz skoncentrować uwagę nauczyciela tylko na sobie.

Łukasz opanował technikę czytania i pisania. Czy­ta niestarannie, nie zwraca uwagi na znaki przestankowe, często ma problemy ze zrozumieniem czytanego tekstu.

Pismo ucznia jest niekształtne, często uza­leżnione od pogody i nastroju.

Łukasz chętnie pracuje, jednak szybko się męczy i dekoncentruje. Jest mało samodzielny, często polecenia do zadań trzeba mu dodatkowo wyjaśniać. Pracuje odtwór­czo, ma problemy z samodzielnym redagowaniem prostych zdań na zadany temat.

Matematyka jest jego piętą achillesową. Dodaje i odejmuje w zakresie 10 posługując się przy tym licz­manami. Nie opanował tabliczki mnożenia, nie potrafi prawidłowo określić godziny, a pojęcie liczby jest dla niego abstrakcją niezwiązaną z rzeczywistością.

Łukasz udzielając odpowiedzi na zajęciach każdego typu nie analizuje zagadnienia, ale stara się osiągnąć zadowolenie i pochwałę od prowadzącego zajęcia nauczyciela. Zachowanie przez prowadzącego zajęcia podczas sprawdzania wiadomości „kamiennego wyrazu twarzy” dezorientuje Łukasza i zdecydowanie ob­niża ilość trafnych odpowiedzi.

Motywacją do pracy dla Łukasza są dobre i bar­dzo dobre oceny, chociaż nie są one adekwatne do jego osiągnięć i umiejętności.

Zaprosiłem Łukasza na pierwszą (wstępną) lekcję fizyki razem z inną pierwszą klasą. Na tej lekcji działo się bardzo wiele, pokazywałem kilka prostych z pozoru ale za­skakujących młodzież zjawisk fizycznych. Przebiegały one zupełnie inaczej, niż pierwotnie przypuszczała klasa i Łu­kasz. Dzięki temu udało mi się mimo normalnego toku lek­cji utrzymać jego uwagę na wystarczającym poziomie. Nie­stety braki jakie wykazuje Łukasz w zakresie np. wykony­wania działań matematycznych i rozumienia pojęcia liczby, sprawność pisania oraz ogólny poziom intelektualny nieste­ty nie pozwalają na prowadzenie z nim zajęć w grupie rówieśniczej i realizację wybranego dla reszty klasy programu nauczania.

Przeprowadziłem wstępnie próbę prowadzenia zajęć zgodnie z programem używanym w klasie z dziećmi zdrowymi. A zatem po zajęciach propedeutycznych, przy­stąpiłem do realizacji dalszych elementów programu na­uczania. Niestety okazało się, że Łukasz owszem opano­wał nazwy zjawisk i pojęć fizycznych, ale nie potrafi ich za­stosować do opisu zastanej rzeczywistości. Zna pojęcia takie jak np. ciało stałe ciecz, gaz, potrafi odpowiednio za­pytany wymienić ich własności charakterystyczne, ale za­pytany o podanie przykładów nie potrafi ich podać. Łukasz nauczył się z geografii nazw stron świata, jednak nie potrafi ich wskazać.

Łukasz chętnie bierze udział w lekcjach biologii or­ganizowanych w formie wycieczek w teren. Zaspokaja w ten sposób swoją potrzebę wędrowania jednocześnie czując się bezpiecznie pod opieką nauczycielki.

Zastosowane metody pracy i prognoza na przyszłość.
W pracy z Łukaszem stosujemy aktywne metody nauczania, pobudzamy go do twórczego działania. Motywujemy również do pracy dobrymi ocenami oraz bazujemy na jego zainteresowaniach i mocnych stronach (wrażliwość na dźwięki, muzykalność, pozytywne cechy charakteru). Możliwości intelektualne ucznia są znacznie ograniczone i dlatego doskonalimy przede wszystkim umiejętności już nabyte przez ucznia, a dopiero na ich ba­zie metodą małych kroków próbujemy wprowadzać nowe wiadomości oraz umiejętności.

Ze względu na trudności w skupieniu uwagi Łu­kasz pracuje w warunkach względnie izolowanych od nad­miaru przypadkowych bodźców. Przedmioty wymagające dużego wysiłku intelektualnego, języki, matematyka, nauki przyrodnicze, matematyka są prowadzone na zajęciach in­dywidualnych. Osobno też prowadzone są zajęcia rehabili­tacyjne na lekcjach wychowania fizycznego. Treści nauczania z pozostałych przedmiotów chłopiec realizuje wraz z resztą klasy.

Na zajęciach indywidualnych łatwiej utrzymać kon­trolę nad uwagą Łukasza i nie dopuszczać do jej rozpra­szania. Unika się również w ten sposób możliwych, nie­kontrolowanych wybuchów złości.

Należy również przestrzegać zasady ignorowania powtarzających się tematów rozmów i zadawania kłopotli­wych pytań, jeśli nie mają one związku z procesem dydak­tycznym. W efekcie prowadzenia takich działań spodziewa­my się poprawy świadomego i celowego komunikowania się z otoczeniem.

Jako zespół nauczycieli zaangażowanych w na­uczanie indywidualne Łukasza staramy się stymulować wszelkie procesy poznawcze takie jak pamięć, uwaga, spo­strzeganie i myślenie poprzez systematyczne ćwiczenia i odpowiednie dobieranie sposobów prowadzenia lekcji.

Pracując z chłopcem wzbogacamy stopniowo jego zespół wiadomości ogólnych i używane słownictwo. Na wszelkiego typu zajęciach staramy się doskonalić technikę czytania i pisania, zachęcając Łukasza do samodzielnego czytania treści ćwiczeń i ich prawidłowego oraz estetyczne­go rozwiązywania.

Największą trudność sprawiają Łukaszowi zajęcia, w których musi rozwiązywać problemy matematyczne. Za­zwyczaj z entuzjazmem stara się zgadnąć prawidłowy wynik. Ten pęd ucznia do zgadywania właściwego wyniku w takich ćwiczeniach jest praktycznie nie do opanowania. Staramy się jednak wykorzystać jego entuzjazm i na­gradzamy każdą aktywność, w której Łukasz dochodzi do prawidłowej odpowiedzi na drodze rozumowej i przy­pominania sobie sytuacji z przeszłości.

Nasz podopieczny nadal ma problemy z odczy­tywaniem wyników pomiaru wykonywanego przy pomocy np. linijki oraz nie potrafi prawidłowo odczytywać godziny z zegara. Wynika to prawdopodobnie z jego wady wzroku. Prowadząc zajęcia staramy się stwarzać okazje do samodzielnego wykonywania pomiarów długości i odczy­tywania czasu z zegara.

Poprzez systematyczne ćwiczenia wsparte pozytywnym motywowaniem staramy się ograniczać nieco jego wielomówność i wdrażać do coraz dłuższych okresów skupienia na jednym zagadnieniu. Atrakcyjnymi wspartymi pochwałami i nagrodami (dobre oceny) ćwiczeniami działającymi na wszystkie zmysły Łukasza staramy się nie dopuszczać do nadmiernego zmęczenia układu nerwowego.

Pomoc w uspołecznieniu Łukasza jest zagad­nieniem złożonym, gdyż z jednej strony mamy do czynienia z nadmierną ufnością wobec wszystkich dorosłych, a z dru­giej zaś strony z nieadekwatnym reagowaniem na bodźce i brakiem akceptacji przez środowisko rówieśników. Zwłaszcza, że młodzież w okresie dorastania jest bardzo czuła na wszelką odmienność i stara się unikać towarzy­stwa osób z upośledzeniem. Łukasz doskonale funkcjonuje w domu rodzinnym, darzy wielkim szacunkiem starszych kolegów i koleżanki. Stara się zasługiwać na pochwały ze strony dorosłych jednak nie potrafi nawiązać prawidłowych i serdecznych kontaktów z własną klasą. W ramach zajęć ze sztuki i religii warto stwarzać sytuacje, w których uczeń będzie mógł pokazać swoją przydatność i ukryte jeszcze przed światem talenty. Przerwy międzylekcyjne stanowią dla Łukasza również okazję do rewalidacji w zakresie poprawiania stosunków z grupą rówieśniczą. W nawiązywaniu prawidłowych kontaktów nie przeszkadza mu wtedy jego wielomówność, znacznie wzmożony napęd psychoruchowy oraz rozpraszalność uwagi.

Wszyscy nauczyciele uczący Łukasza we współpracy z domem rodzinnym wzmacniając te sfery, o których tu napisano spodziewają się osiągnąć wymierny przyrost wiedzy i umiejętności ucznia oraz jego możliwie pełne uspołecznienie. Nie należy jednak spodziewać się, że Łukasz w przyszłości będzie mógł prowadzić zupełnie samodzielną i niezależną od jego obecnej rodziny egzy­stencję.

Spodziewamy się jednak, że w skutek oddziały­wań wychowawczych uczeń w przyszłości jako człowiek dorosły Łukasz będzie lubianym i dobrze postrzeganym przez otoczenie członkiem naszej niedużej społeczności lokalnej.


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