El Pitt-Hopkins syndrome chirwere chisina kujairika, hapana angangoita makumi mashanu mamiriro ezvinhu pasi rose anoonekwa Muchokwadi, hazvizivikanwe kuti vanhu vangani vanobatwa nazvo, nekuti kuita bvunzo dzekuongorora kunodhura kwazvo, ndosaka tiri kutaura nezve kusagadzikana kunokanganisa nyika yekutanga, nekuti iri pano pazvakakwanisa kuongororwa. Chikonzero chinozivikanwa kuve chemhando, a kuchinja de novo iyo inobata iyo TCF4 geni.
Chirwere Pitt-Hopkins chirwere cheurourodevelopmental. Iyo inoratidzirwa nekukudziridza uye kudzikira kwepfungwa, uko kunogona kubva kubva pakuenzanisa kusvika kune yakaoma. Zvimwe zvinetswa zvine hukama neiyi syndrome zvinetso zvekufema, kudzokororazve, pfari.
Iko kune prenatal kuongororwa kwePitt-Hopkins syndrome?
Kuonekwa kwePitt-Hopkins syndrome hakuuyi kubva pakuchinja kwemajini kuripo mune mumwe wevabereki vaviri. Apo Hopkins syndrome inowanikwa mumwana vabereki vese vanofanira kuongororwa, kunyanya kuona huvepo hwe mosaicism. Iyo mikana yekuchinja uku kunoitika zvakare mune imwe nhumbu yakanyanya kuderera. Iko mukana wekudzokazve mumhuri imwe chete uri pasi pe1%.
Kuongororwa kwepamuviri kunogoneka, asi zvinowanzoitwa kana vaviri vacho vatove nemwana ane chirwere ichi. Kuongororwa kwepamuviri kunoitwa nekuita a chorionic biopsy kana a amniocentesis. Muedzo wekutanga unogona kuitwa kubva kumavhiki gumi nerimwe ekubata uye kazhinji inopa mhedzisiro. Amniocentesis inowanzoitwa muvhiki yegumi nematanhatu yekubata.
Kubva nhasi, kuongorora bvunzo kwe Fetal DNA muropa raamai haibvumidze kuongororwa mune varwere vane vana vane yapfuura Pitt-Hopkins syndrome.
Ndeapi vana vane Pitt-Hopkins syndrome vakaita?
Muzhinji vana ava vakanyanya kufaraIvo vanonzwira tsitsi nevanhu zvakanyanya, kunyangwe ivo vangangoratidza zvechivhurumukira mafungire echikonzero pasina chikonzero chiri pachena. Vanowanzove vana vakatamiswa. Ivo vanokwanisa kunzwisisa zvakanyanya kupfuura ivo zvavanogona kuratidza. Uye ndezvekuti vazhinji vevana ava havagone kutaura, asi vanoshandisa mutauro wemasaini, kana kutaura kuburikidza nemifananidzo. Iva matambudziko pakuronga nekubatana. Zviri nyore kuvaona "vachirova" nemaoko maviri kuratidza kwavo kumutsa.
Mune mamwe mapeji anotaura nezvePitt-Hopkins syndrome yavanotaura nezvayo zvakasarudzika kumeso maficha sezvakaita tsiye dzakatetepa, musoro unenge mudiki, maziso akanyura, mhuno yakakurumbira ine bhiriji remumhuno rakasimudzwa, rakakombama rakakombama muromo wemuromo wepamusoro, unonzi uta hwaCupid, muromo wakakura une miromo gobvu, uye mazino akapararira. Nzeve dzinowanzo gobvu uye dzakaita mukombe.
Zvisinei, kune vamwe vakomana nevasikana avo hauna izvi zvakajeka zvakasarudzika maficha. Dzimwe nguva shanduko dzayo dzinotadza kucherechedzwa mukati memwedzi yekutanga kana makore ehupenyu. Zvimwe zvisina-kumeso maficha zviri pachena sekunonoka kuchengetedza nzvimbo yekugara, kutendeuka, kukambaira, kufamba ...
Kurapa
Kurapa mune ino syndrome zvinoenderana nezviratidzo chaizvo kuti murwere wese aripo. Panyama, basa, kurapa kwemuviri, vanachiremba vetsinga, varapi vekutaura, insoles, uye prosthetics inobatsira zvikuru. Kuvhiya kunogona kubatsirawo pakurapa
Kazhinji iripo hypotonia, ndokuti, yakaderera mhasuru toni, nekudaro kukosha kwevarapi vemuviri vevana ava. Imwe shanduko inowanzoitika ndeye epilepsia uye kutadza kufema. Panyaya yekutora nzvimbo, vana vanopindura mushe pakurapwa kwakajairika. Kuvhiringidzika kwekufema, uko kunowanzoonekwa pakati pemakore mashanu kusvika gumi ekuberekwa, dzimwe nguva dzekuwedzera kwehyperventilation inoteverwa nenguva yekufema. Yenyaya ye chisingaperi kupatirwa, ane mavambo asina kujeka, chikafu chakapfuma mufibre uye kushandiswa kwema laxatives zvinokurudzirwa.
Chinangwa chekutsaurira Gunyana 18 kuHopkins syndrome kushambadza chirwere ichi uye kuyedza kusimudzira hupenyu hwevarwere nemhuri dzavo.