Angelman syndrome

Angelman syndrome yisimo anomaly zofuzo (kuguquka chromosomal), imiphumela ukubambezeleka kwengqondo, kusukela insufficiently kwakhiwa umgudu wokuphefumula, okuyinto eba uhlelo neurobiological. Ngakho, umuntu has uhleko njalo, abathathela isandla ukunyakaza, ukuquleka, ubuthongo siyabhubha. Lesi sifo akunakuphulukiswa, kodwa ngcono kungenzeka kuphela uma kwenzeka ukuthi isidingo sabantu esiyisisekelo sokuba umoya-mpilo.

Lesi sifo livela ngenxa nokuguqulwa chromosome isici kulo, ngenxa ngokuguqula izakhi zofuzo isakhi sofuzo, kukhona ezinye nokucekelwa phansi amaprotheni enzyme.

Kuze kube manje, Angelman syndrome kwenzeka oyedwa ezinsaneni ayizinkulungwane ezingamashumi amabili. It libhekene:

1. Izinkinga ibele, ngoba le nqubo kudinga ukubambisana okuhle ukuphefumula, ukuze ugweme isifiso. Ngakho-ke, izingane hhayi ngokwanele isisindo.

2. Ukubambezeleka ukuthuthukiswa motor jikelele amakhono, inkulumo, ukunakwa. Kukhona nobunzima ekuqeqesheni yabo.

3. Ngo-80% amacala isithuthwane lingaze. Kukhona Isakhiwo sazamazama, ukunyakaza uncoordinated kwamalungu omzimba, Ukudlikizela zenzeka, okungaba yonke imisipha yomzimba, noma njengoba ukulahlekelwa patchy ukwazi.

4. Laugh and smile ngaphandle kwesizathu.

5. Ukwephulwa ekuthuthukiseni jikelele - bubi Usayizi ikhanda futhi izici zobuso, squint, ugobile yomgogodla.

Angelman sifo sitholakale ngu ukuhlaziywa kwezakhi -chromosome 15. Isetshenziselwa lapho is lehla imisipha ithoni ezinsaneni, ukubambezeleka zokukhuluma kanye motor amakhono, kanye lodumo eliqhaqhazelayo esihle, okungajwayelekile esitho ukunyakaza, uhleko njalo noma uhamba phezu imilenze zenzeka. Futhi ewusizo DNA methylation, kuguquka ukuhlaziywa namaphakathi imprintingvogo UBE3A zofuzo.

Kuze kube manje, ukwelashwa kwalesi sifo ungazange lakhiwe. Kodwa zikhona eziningi nemisebenti lehlose ukuthuthukiswa izingane retardation ngokwengqondo, kanye nokuthuthukisa izinga lokuphila kwabo.

Ngokwesibonelo, amakilasi defectology futhi ukwelapha amalimi, elashwe ngokomzimba isetshenziswa uma imisipha hypotonia, futhi hypnotics ebekiwe izinkinga zokulala. Ngo ukuhlaselwa esetshenziswa ejenti zokwelapha ziyefana e isithuthwane (anticonvulsants). Ukuze yokulondoloza ukusebenza evamile amathumbu asetshenziswa laxatives.

Baxoxelane nezingane kusukela zisencane, usebenzisa izinhlelo ezikhethekile ezigxile ukuthuthukiswa motor amakhono, ungakwazi zithole imiphumela emihle.

Amathemba ukuthuthukiswa kwabantu sifo kuxhomeke endleleni umxhwele chromosome lweshumi nanhlanu. Abanye bafunde futhi amakhono self-service ezingeni eliphansi, abanye abasoze bakwazi ukukhuluma uhambe.

Ngakho, izingane abanale Angelman syndrome, libhekene ezinye izici nokuziphatha: impulsivity, autostimulyatsiya, ubunzima nokuxhumana nabantu. Futhi nakuba iningi labo-ke kungenzeka ukuthi ingabi khona ngokuphelele, zozela zonke, ngokuvamile friendly, enhle, bayathanda ukudlala, ngakho-ke kuhle ukubafundisa ulimi lwezandla, ukuze bakwazi ukuxhumana nabantu.

a kwemizwa okunjalo kudinga ukuqeqeshwa okukhethekile kusuka izigaba zokuqala, njengoba ngeminyaka inkinga ekhulayo kuphela. Ukuziphatha kwabantu namanje ongaziwa, basuke uzwakalise kuphela ngokushukuma komzimba nemisindo anonya uma yokungaqondi. Umndeni lapho kukhona izingane Angelman syndrome ngokuvamile uhlushwa ukuntuleka kokukhulumisana, kodwa kufanele sikhumbule ukuthi iziguli kudingeka ukuba azungeze umoya sokuzwana nabanye abese ukubanakekela ezifanele kanye nokwelashwa, bese sikwazi ukufezekisa imiphumela emihle.