I-Parsley Syndrome - iyini lesi sifo nokuthi i-Angelmann syndrome iphathwa kanjani?

Ngokokuqala ngqa umqondo wePetrushka syndrome wethulwa ngo-1965 nguHarry Angelmann, emva kwalokhu okubizwa ngokuthi lesi sifo. Ukuvama kwalesi sifo kubantwana abayi-1 kuya kwezingu-20,000 futhi kuhanjiswa ngezakhi zofuzo. Lesi sifo sitholakala eneminyaka engu-3-7 nangaphezulu kaningi kubafana.

I-Petrushka syndrome - iyini?

Lesi sifo sabizwa ngokuthi "i-doll syndrome ejabulisayo", "idoli yokuhleka" noma "i-puppet syndrome". Isifo sePetrushka yisifo esingavamile se-neuro-genetic, esibonakala ukubambezeleka ekuthuthukiseni amakhono angokwenyama nangokwengqondo. Misa ukukhubazeka nge-Angelman syndrome kungenzeka uma udlulisa ucwaningo futhi ufundisa isiphetho sezakhi zofuzo. Isizathu sokungabikho kwezakhi zofuzo ze-chromosome yesi-15, njengombuso, kufanele zifunwe ku-genotype yomama. Kulabo besifazane, ithuba lokubekezelela ingane enempilo lincane kakhulu, uma owesifazane ehlushwa yilesi sifo - ngamacala angu-98% ingane efanayo iyavela.

Ukuxilongwa kwe-angelman syndrome kwenziwa uma ingane isanda kuncipha emisebenzini ye-muscle kanye ne-motility engasebenzi kahle. Ngeshwa, abantu abanenkinga enjalo abanalo ithuba lokulungisa ngokugcwele, i-chromosome yeshumi nanye iyathinteka - ithuba elincane lokuphulukiswa. Kuyaziwa ukuthi isifo esinjalo asigcini nje njengefa, kodwa sibonakaliswe kakhulu futhi siqine kunokomama.

I-Parsley Syndrome - Izimpawu

Lesi sifo sibonakala ngu:

• ukuhleka nenjabulo ngaphandle kwesizathu;
• izenzo zokukhathazeka;
• inkulumo enzima noma engekho;
• ukuphazanyiswa kwe-balance;
• ukuzuza kancane kancane;
• ukuhlukunyezwa;
• ukuphazamiseka kokulala;
• i-strabismus (strabismus);
• ukuxubha;
• salivation;
• ewela olimini;
• ukoma okungapheli.

Izimpawu ezikhungweni ezikhulile zinciphisa iminyaka. Ngabantu abadala, babhekana nezibonakaliso ezithile, njengokungathi ukuhlukumezeka nokuphazamiseka kokulala , kanti ezinye zingaba zimbi nakakhulu, isibonelo, i-scoliosis. Uma uneminyaka yobudala, izinkinga zesisindo zingaqala. Emantombazaneni ane-syndrome, ngesikhathi sokukhulelwa, okwenzeka ngesikhathi esivamile, kungase kube nokwanda kwezigameko.

Angelman Syndrome ezinganeni - izimpawu

Izimpawu zokuqala ze-parsley syndrome zivele sezivele ezinyangeni zokuqala zentuthuko.

1. Izinkinga ngokudla, ukulala, ukunciphisa ukuzuza kwesisindo. Isidingo sokulala singase sinciphise, futhi umbuso ojwayelekile angeke usungulwe isikhathi eside.
2. Esikoleni esikoleni kuyoba nezinkinga zokufunda nokuqonda, ubunzima ngokugxila kokunakwa.
3. Ukungafani nokufunda kungabandakanya ukungabi nokuziphendulela, izinkinga zokukhuluma kanye nezinkinga zokuxhumana.
4. Ngenxa yokuthi imilenze eqinile, iziguli zibizwa ngokuthi "amaphupusi", zibuye zibheke ngokushukela kwesibindi futhi, ezimbi kakhulu, isifo sokufa kwesifo sibonakala kuma-80% weziguli.

Izifo "Parsley Syndrome" - bangaki abahlala?

Ukulindeleka kokuphila kweziguli ezixilongwa ngokuthi "Petrushka syndrome" kuphakathi kweminyaka engu-35-40. Abantu abaye bathola ukukhubazeka, kodwa ngubani osebenzise ukwelashwa okufanele sonke isikhathi, angaphila isikhathi eside. Njengamanje, azikho izindlela zokwelapha okuphelele, kodwa kunezinhlelo ezikhethekile ezingathuthukisa izinga lokuphila kweziguli.

Angelman syndrome - ukwelashwa

Kubalulekile ukukhumbula ukuthi into ebaluleke kakhulu kubantwana abanesifo esinjalo ngumkhathi wothando nothando ekhaya, ungakhohlwa ngezivivinyo ezijwayelekile kanye nokugcinwa kwazo zonke izimo zokwelashwa kokwelapha. Ngokuhamba kwesikhathi, izindlela ezintsha zokwelapha i-Anghelman's syndrome ziyasungulwa. Lezi zinhlelo ezikhethekile zenziwa ngabanye ngesiguli ngasinye ngesimpawu ezihlukene, kodwa kunezindlela ezine eziyinhloko:

1. Ama-anticonvulsants ekwelapheni isithuthwane, okuyinto ezokwehlisa ingozi yokugubha njalo kanye nokunciphisa imiphumela.
2. Imizimba ye-Physiotherapy yokuthuthukiswa kwamakhono amancane amamoto nezinye izinhlobo zomsebenzi wemoto.
3. Ulimi lwezandla lungcono ukuqala ukufunda kusukela esemncane, ukufunda indlela enjalo yokuxhumana kuzokusiza ukuba uvumelanise futhi uhlanganyele ngokushesha, ngangokunokwenzeka kulokhu.
4. Ukwelashwa kokuziphatha kuyadingeka ukunqoba ukungabi namandla nokukhulisa ukuhlushwa.