Matenda a Usher angakhale chifukwa chake munthu amene mumamudziwa ndi wogontha komanso wakhungu
Matenda a Usher ndi matenda omwe amachititsa kuti anthu aziwona masomphenya ndi kumva . Matendawa amachititsa kuti mwana wanu azibadwa ndi matendawa. Mwa kuyankhula kwina, makolo onsewo ali ndi matenda kapena othandizira (ali ndi kholo limodzi lomwe lapitapo pa khalidwe, koma limakhala lokhazikika) la vutoli.
Ngakhale kuti sizodziwikiratu, zimangowonjezera pafupifupi 4 mpaka 5 pa 100,000, zimaonedwa kuti ndizopangitsa kuti munthu akhale wakhungu komanso wogontha, ndipo amawerengera pafupifupi 50 peresenti ya milandu imeneyi. Pali mitundu itatu yosiyana ya syndrome ya Usher. Lembani I & II mwatsoka mawonekedwe owopsa kwambiri. Mtundu Wachitatu, womwe ndi wovuta kwambiri wa mitundu yosiyanasiyana ya syndrome ya Usher, imangokhala ndi milandu yokwana 2 pa 100 pokhapokha ngati muli ochokera ku Finland, ndipo mukhoza kuwerengera 40 peresenti ya milanduyo.
Genetic Mutations
Matenda a Usher amaonedwa kuti ndi matenda obadwa nawo, zomwe zikutanthauza kuti matendawa amayamba chifukwa cha DNA pa chitukuko. Ngakhalenso matenda a Usher sakuonekera mpaka mtsogolo m'moyo, adakali ofanana ndi chitukuko asanabadwe. Pali kusintha kwadzidzidzi kokwanira 11 m'magazi a DNA omwe amakhudza mapuloteni omwe angayambitse matenda a Usher. Komabe kusintha kwakukulu ndi:
- MYO7A - Mtundu I
- CDH23 - Mtundu Woyamba
- USH2A - Mtundu Wachiwiri
- CLRN1 - Mtundu Wachiwiri
Mavuto ambiri okhudzana ndi kusintha kwa majini amakhudzana ndi mapuloteni omwe ali ofunikira kukula kwa maselo apadera a mkati mwa khutu lanu (cilia), komanso ndodo ndi cone photoceptceptors m'maso mwanu. Popanda zoyenera cilia (zomwe ziri mkati mwa khutu lanu, kulingalira ndi njira zomvetsera zidzasokonekera.
Ndodo za photoreceptors zimakhala zosavuta kukulolani kuti mukhalebe pamene mulibe kuwala pang'ono. Makina a photoeceptors amalola kuti muwone mitundu komanso pamene kuwala kukuwala.
Zizindikiro za Usher Syndrome
Zizindikiro zazikulu za Usher syndrome ndizovuta kumva kumva ndi mtundu wa masomphenya wotchedwa retinitis pigmentosa (RP). Retinitis pigmentosa imawonetsedwa ndi masomphenya a usiku omwe amatsatiridwa ndi mawanga akhungu omwe amakhudza masomphenya. Izi zikhoza kumapangitsa kuti masomphenya awonongeke komanso kuti pakhale chitukuko. Zizindikiro zimasiyana malinga ndi mtundu wa Usher syndrome omwe ali nawo.
Lembani I
- kawirikawiri kwathunthu kapena ambiri ogontha m'makutu onse awiri kuyambira nthawi yoberekera
- Matenda osayenerera - omwe nthawi zambiri amachititsa kuchedwa kwa chitukuko cha magalimoto (kukhala, kuyenda, etc.)
- Mavuto a masomphenya a RP-RPU omwe amayamba kukula ndi zaka 10 ndikupita patsogolo mofulumira mpaka khungu lonse likuchitika
Mtundu Wachiwiri
- wobadwa movutikira kapena wogontha kwambiri
- anabadwa moyenera
- RP - Kutayika kwa masomphenya komwe kumapita pang'onopang'ono kusiyana ndi mtundu Woyamba I
Mtundu Wachitatu
- kumva mwachibadwa pa kubadwa
- Kutaya kwakumva kungapangitse patsogolo m'moyo
- yachibadwa kapena pafupi ndiyomwe mumakhala nthawi yoberekera
- akhoza kukhala ndi mavuto oyenera m'tsogolo mmoyo
- kawirikawiri kumakhala ndi vuto la masomphenya pamlingo wina - kuuma kwakukulu pakati pa anthu
Kuzindikira Matenda a Usher
Ngati muli ndi vuto lakumvetsera, kutayika kwa masomphenya, ndi kusalakwitsa dokotala wanu angakayikire matenda a Usher. Mayesero osiyanasiyana omwe akuphatikizapo kuyesa masewero, masewero a retina, ndi electroretinogram (ERG) ndi othandiza pofufuza matenda a Usher komanso kuyesa zamagetsi. Electronystagmogram (ENG) ingakhale yothandiza pakuzindikira mavuto a kusinthana.
Matenda osiyanasiyana osiyanasiyana (pafupifupi 11, omwe angakhalepo ochulukirapo) agwirizanitsidwa ndi matenda a Usher. Ndi majini ochulukirapo ambiri omwe amawoneka mu matendawa omwe akuyesa ma genetic sakhala othandiza kwambiri pakuthandizira ndi matendawa.
Kuchiza kwa Matenda a Usher
Palibe mankhwala a matenda a Usher. Komabe, mukhoza kuyesa mankhwala a Isher syndrome kuti athetse zizindikiro. Chithandizo cha zizindikiro chikhoza kukhazikitsidwa ndi zomwe mumakonda komanso mgwirizano wa dokotala wanu, ndi mtundu wa syndrome ya Usher. Madokotala osiyanasiyana ndi mitundu yochiritsira ikhoza kukhala yofunikira pazigawo zosiyanasiyana pa moyo wa munthu aliyense ndipo angaphatikizepo akatswiri a zamagulu, olemba malankhulidwe, othandizira odwala , ogwira ntchito, opthalmologists ndi zina zambiri. Mankhwalawa angakhale othandiza poyang'anira matenda a Usher.
Lembani I
Zothandizira kumvetsera sizothandiza pa mtundu uwu wa matenda a Usher. Mapiritsi a cochlear akhoza kukhala osankha ndipo akhoza kusintha kwambiri moyo wawo. Kufufuza koyambirira ndi kofunikira kotero kuti njira zina zolankhulirana monga Chilankhulo cha Chizindikiro cha ku America (ASL) ziphunzitsidwe. Kulingalira kwakukulu kuyenera kugwiritsidwa ntchito popanga njira yolankhulirana, mwachitsanzo chitsanzo cha ASL sichingakhale chabwino kwa anthu omwe ali ndi masomphenya osowa kwambiri.
Kukonzekera bwino ndi kukonzanso zovala kungakhale kothandiza kuthetsa zotsatira za khutu lamkati kuphatikizapo kusowa malire kapena chizungulire. Chithandizo cha mavuto a masomphenya chingaphatikizepo malangizo a braille, zipangizo zothandizira masomphenya a usiku, kapena opaleshoni ya katemera. Zinyama zothandizira, (monga galu wotsogolera), zingathandizenso malingana ndi zochitika.
Mtundu Wachiwiri
Zothandizira kumvetsetsa zingakhale zothandiza limodzi ndi mankhwala ena ovomerezeka monga mankhwala osakaniza. Kafukufuku wina amasonyeza kuti vitamini A supplementation ingakhale yopindulitsa kuchepetsa kukula kwa RP mu matenda a mtundu wa II ndi III Usher. Komabe, muyenera kufunsa dokotala wanu musanayese izi ndikuonetsetsa kuti:
- sakhala ndi mimba kapena amapanga mimba, popeza mavitamini A ammwamba amatha kuchepetsa kubala
- musawonjezere ndi beta carotene
- musatenge zoposa 15,000 IU
Mtundu Wachitatu
Kuphatikiza kwa mankhwala ogwiritsidwa ntchito mu mtundu wa I ndi II malingana ndi kuuma kwa zizindikiro.
Kafukufuku wopitirirabe wa matenda a Usher akupitiriza ndipo mankhwala amtsogolo angakhalepo.
Zotsatira:
Chilankhulo cha American-Language-Hearing Association. Kumvetsetsa Usher Syndrome. Zapezeka: August 26, 2016 kuchokera ku http://www.asha.org/Articles/Understanding-Usher-Syndrome/
Zolemba za Kunyumba za Genetics. Usher Syndrome. Idapezeka: August 26, 2016 kuchokera ku https://ghr.nlm.nih.gov/condition/usher-syndrome
Kimberling, WJ & Lindenmuth, A. (2006). Usher Syndromes. Masemina Akumva, 27 (3): 182-192.
National Institute of Deafness & Other Communication Disorders. Usher Syndrome. Idapezeka: August 26, 2016 kuchokera ku https://www.nidcd.nih.gov/health/usher-syndrome
National Organisation for Disorder Disorders. Usher Syndrome. Zapezeka: August 26, 2016 kuchokera ku http://rarediseases.org/rare-diseases/usher-syndrome/