Ingabe ingane yakho inenkinga yokukhula kobuchopho engavamile? (I-Miller-Dieker Syndrome)

Namuhla sizokhuluma ngesihloko esingavamile futhi esibucayi kubazali. Lesi yisimo esibizwa ngokuthi iMiller-Dieker Syndrome. Lesi yisimo sofuzo esithinta ukukhula kobuchopho bomntwana wakho. Kungenzeka ukuthi awukaze uzwe ngaleli gama ngaphambili, kodwa ukuqaphela lezi zimo kungabaluleka kakhulu, ikakhulukazi kubazali abasha.

Iyini i-Miller-Dieker Syndrome?

Kalula nje, i-Miller-Decker syndrome iyisimo esingavamile sofuzo lapho ingxenye engaphandle yobuchopho bengane yakho, ebizwa ngokuthi i-cerebral cortex , ibushelelezi. Ngokuvamile, ebuchosheni obuphilile, le ngxenye inemigoqo eminingi eyinkimbinkimbi, imibimbi kanye nemisele. Kufana ne-walnut. Kodwa ezinganeni ezinalesi simo, lawo magoqo kanye nemisele awakheki kahle.

Ingane enalesi simo ingabonisa izimpawu ezithile zomzimba lapho izalwa. Ngaphandle kwalokho, izinkinga ezinkulu zokukhula kanye nezezinzwa ziqala ukuvela cishe ezinyangeni eziyisithupha ubudala. Ngokuvamile, lokhu kubangelwa ushintsho olungahleliwe kuma-chromosome. Kodwa-ke, kwezinye izimo, lesi simo singabangelwa nokuguqulwa kwezakhi zofuzo okuzuzwe kumzali.

Ngeshwa, alikho ikhambi le-Miller-Decker syndrome. Kuyisimo esivimbela ukuphila, lapho iningi lezingane lishona ngaphambi kokuba lifinyelele eminyakeni emibili.

Lesi simo saqala ukuchazwa ngawo-1960 ngodokotela ababili, uJames Q. Miller noH. Dieker. Yingakho sibizwa ngokuthi "i-Miller-Dieker syndrome."

Yimaphi amanye amagama alokhu?

Udokotela wakho angase asebenzise igama lezokwelapha elithi lissencephaly le-Miller-Decker syndrome. I-Lissencephaly isho ukuthi "ubuchopho obubushelelezi." Ungase uzwe nala magama:

• I-classic lissencephaly syndrome
• I-MDS
• I-Miller-Dieker lissencephaly syndrome

Sivame kangakanani lesi simo?

I-Miller-Decker syndrome iyisimo esingavamile kakhulu . Sithinta cishe ingane eyodwa kwezingu-100,000 ezisanda kuzalwa. Lokhu kusho ukuthi ngisho naseSri Lanka, akuvamile ukuthola ingane enalesi simo.

Iyini imbangela yalokhu?

Izingane ezine-Miller-Decker syndrome zinengxenye engekho ye-chromosome 17.Kukhona. Lokho kusho ukuthi balahlekelwe yizakhi zofuzo eyodwa noma ngaphezulu. Cabanga ngakho sengathi sinezincwadi ezincane zemiyalelo emizimbeni yethu, esizibiza ngama-chromosome. Ngaphakathi kwala ma-chromosome kukhona izakhi zofuzo, okuyizikhodi ezilawula konke emizimbeni yethu. Ngakho-ke, lokhu kulahlekelwa izakhi zofuzo kuvame ukwenzeka ngokungahleliwe, okungukuthi, ngaphandle kwesizathu esibonakalayo. Lokhu kulahlekelwa izakhi zofuzo kungenzeka esidodaneni, eqandeni, noma ngesikhathi sokukhula komntwana ngemva kokukhulelwa esibelethweni.

Emindenini eminingi, lapho kuzalwa ingane enalesi simo, akekho emndenini oke waba nalesi sifo ngaphambili. Lokho kusho ukuthi akukho mlando womndeni.

Kodwa-ke, ngezinye izikhathi, cishe emndenini owodwa kweyishumi , omunye wabazali unezakhi zofuzo ezishintshe kancane ku-chromosome 17, okusho ukuthi zihlelwe ngendlela engafanele. Odokotela bakubiza lokhu ngokuthi ukudluliselwa okulinganiselayo . Ngenxa yokuthi zonke izakhi zofuzo kule chromosome zikhona, okusho ukuthi azikho izakhi zofuzo ezingekho, umama noma ubaba ngeke babonise izimpawu ze-Miller-Decker syndrome. Kodwa-ke, lapho umzali onalolu hlobo 'lokudluliselwa' enengane, ingane ingase ilahlekelwe izingxenye zezakhi zofuzo ngenxa yokuhlelwa okungahlelekile.

Lokhu kuntuleka kwezakhi zofuzo kuthinta indlela ubuchopho obukhula ngayo ngesikhathi umntwana esesesibelethweni. Njengoba kushiwo ngaphambili, ingxenye engaphandle yobuchopho (i-cerebral cortex) ayinayo imigoqo efanele kanye nemisele, futhi leyo ngxenye iba bushelelezi.

Ziyini izimpawu?

I-Miller-Decker syndrome ithinta kokubili ukukhula ngokomzimba nangokwengqondo kwengane. Ubukhulu bezimpawu buxhomeke ekutheni ubuchopho bengane abukavuthwa kangakanani.

Ingane ingase ibhekane nezimpawu ezifana nalezi:

• Ubunzima bokuphefumula
• Ukulibaziseka kokukhula - Lokhu kusho ukwephuza ukwenza izinto ezifanele iminyaka yakho.
• Ubunzima bokugwinya (i-dysphagia)
• Izinkinga zokudla
• Ithoni yemisipha ephansi (hypotonia) - Lokhu kusho ukuthi imisipha emzimbeni ibuthakathaka futhi ayinamandla.
• Ukuqina kwemisipha noma ukuqaqamba
• Ukuquleka - Isimo esibangela ukuquleka njalo.
• Ukukhula kancane ngokomzimba

Izici ezingabonakala ekubukekeni kwengane

Izingane ezine-Miller-Decker syndrome zivame ukuba namakhanda amancane kunejwayelekile. Lokhu kubizwa ngokuthi i-microcephaly . Zingase zibe nezici ezithile zobuso ezihlukile:

• Izindlebe zibekwe phansi kunokuvamile futhi zingase zibe nesimo esingavamile.
• Ibunzi liphuma phambili.
• Impumulo incane futhi ingase ibheke phezulu.
• Ingxenye ephakathi yobuso ibonakala sengathi ishone ku- (midface hypoplasia) .
• Udebe olungaphezulu lungase lubanzi, kanti umhlathi ongezansi ungase ube mncane.

Yiziphi izinkinga ezingaba khona?

Ezinye izingane zingase zibe nezinye izinkinga lapho zizalwa. Isibonelo:

• Izimo zenhliziyo ezizalwa nazo - izifo zenhliziyo eziba khona lapho kuzalwa.
• Iminwe ingase ibe yigobile noma igobe (ngokuvamile) .
• Izinkinga zezinso.
• Ezinye zezitho zesisu zingase zitholakale ngaphandle kwesisu (omphalocele) .

Lesi sifo sitholakala kanjani?

Ezinye izivivinyo ezenziwa ngesikhathi sokukhulelwa, njenge -ultrasound scan , zingasiza udokotela wakho ukuthi abone ukuthi ingane yakho inokukhula okungavamile kobuchopho noma ezinye izimpawu zesifo. Uma lokhu kusolwa, udokotela wakho angase ancome i -genetic amniocentesis noma i-chorionic villus sampling (CVS) . Lezi zivivinyo zingaqinisekisa ukuthi ingane yakho inezinguquko zofuzo ezihlobene ne-Miller-Decker syndrome.

Ngemva kokuzalwa kwengane, wena noma udokotela wakho ningabona ezinye zezici zobuso ezishiwo ngaphambilini. Noma, ingane ingase iqale ukuba nokuxhuzula . Ngokuvamile, lezi zingane azidluli ezingeni lokukhula kwengane lezinyanga ezintathu kuya kwezinhlanu - njengokuhlala phansi nokugingqika.

Yiziphi izindlela zokwelapha lokhu?

Njengoba sishilo ngaphambili, ngeshwa alikho ikhambi le-Miller-Decker syndrome . Lesi yisimo esivimbela impilo. Ukwelashwa kuhloswe kakhulu ukulawula izimpawu ezifana nokuquleka nokwenza ingane ikhululeke ngangokunokwenzeka. Ngenxa yobunzima bokugwinya, ezinye izingane zingadinga ukuphakelwa ngepayipi (ukuphakelwa ngepayipi / ukudla okunomsoco kwangaphakathi) .

Yini ongayenza uma ingane yakho inalesi simo?

Ukunakekela nokukhulisa ingane enesifo esibucayi nesivimbela impilo njengalesi kuwumsebenzi onzima kakhulu . Ungase ubhekane nokukhathazeka okukhulu, ukucindezeleka, ngisho nokucindezeleka . Ngakho-ke, kubaluleke kakhulu ukunakekela impilo yakho yomzimba neyengqondo ngenkathi unakekela ingane yakho.

Ungathola usizo ezintweni ezifana nalezi:

• Thola izinsizakalo zokusekela ingane yakho ezidingayo, njengezinsizakalo zokuvuselela, ukunakekelwa kwempilo ekhaya, kanye namadivayisi okusiza.
• Joyina iqembu lokusekelana nabazali bezingane ezinjengalezi. Kuzokusiza uzizwe ungedwa kakhulu futhi ungafunda kokuhlangenwe nakho kwabanye.
• Funda ngesimo sengane yakho kanye nanoma yiziphi izimpawu ezihambisana nayo.
• Zinike isikhathi . Thatha ikhefu, yenza okuthile okujabulisayo.
• Thola izindlela ezinempilo zokunciphisa ukucindezeleka. Kungaba yinto efana nokuhambahamba nomngane noma ukuqala into entsha yokuzilibazisa.
• Khuluma nochwepheshe wezempilo yengqondo . Kuzokuphumuza kakhulu.
• Uma kudingeka, sebenzisa imithi efana nemithi yokucindezeleka njengoba kunconywe udokotela.

Ingabe i-Miller-Decker syndrome ingavinjelwa?

Ngeshwa, lokho kusho ukuthi ayikho indlela yokuvimbela i-Miller-Decker syndrome, eyenzeka ngokuzumayo ngaphandle kwesizathu esibonakalayo.

Kodwa-ke, uma unengane enalesi simo, ukuhlolwa kofuzo kungenziwa ukuze kutholakale ukuthi wena noma umlingani wakho ninayo yini 'i-translocation elinganisiwe' okukhulunywe ngayo ngaphambilini ku-chromosome 17. Uma umzali one-'translocation' enjalo enenye ingane, ngokuvamile kunethuba elilodwa kwabathathu lokuthi leyo ngane nayo izoba ne-Miller-Decker syndrome.

Ngakho-ke, kubaluleke kakhulu ukuthi wena nomlingani wakho nihlangane nomeluleki wezakhi zofuzo ukuze nixoxe ngale ngozi kanye nezinketho zenu.

Liyini ikusasa lomntwana onalesi simo?

Lokhu kuyadabukisa ngempela ukusho. Isikhathi sokuphila sezingane ezine-Miller-Decker syndrome sivame ukuba sifushane kakhulu . Izingane eziningi ziba nokuquleka okukhulu okungasongela impilo. Noma, ngenxa yokuthi imisipha yomphimbo ibuthakathaka, izimo ezifana 'ne-aspiration pneumonia' zingavela, lapho ukudla nokuphuza kungena emaphashini. Lokhu kuyingozi kakhulu.

Iningi lezingane liyafa lapho lineminyaka emi-2. Ezinye izingane zingase ziphile iminyaka eyi-10. Kodwa-ke, ukusinda zize zibe yintsha akuvamile.

Kufanele ubonane nini nodokotela?

Uma ingane yakho inanoma yiziphi zalezi zimpawu, bheka udokotela ngokushesha:

• Ukulibaziseka kokukhula - uma ungenzi izinto ezifanele iminyaka yakho.
• Uma unenkinga yokuphefumula, ukudla, noma ukugwinya.
• Uma unesifo sokuwa njalo.
• Uma intuthuko yomzimba ibonakala ihamba kancane.
• Uma ubona izici zobuso noma izici zomzimba ezingavamile .

Yimiphi imibuzo ebalulekile okufanele uyibuze udokotela?

Uma usuthole ukuthi ingane yakho ine-Miller-Deeker syndrome, ungabuza udokotela imibuzo efana nale:

• Yini ebangela ukuthi ingane yami ibe nesifo sikaMiller-Decker?
• Yimiphi imithi yokwelapha engasiza ingane yami?
• Yini engingayenza ukuze ngisize ingane yami ekhaya?
• Ingabe mina nomlingani wami kufanele sihlolwe izakhi zofuzo?
• Yiziphi ezinye izinkinga okufanele ngikhathazeke ngazo?

Ekugcineni, khumbula

Uma ingane yakho inesifo esingathi sína nesivimbela impilo njengalesi, kubalulekile ukufuna usizo kochwepheshe kanye nochwepheshe bezempilo abanolwazi ngalesi sifo. Udokotela wakho angasiza ekuphatheni izimpawu zengane yakho futhi ayisize ikhululeke ngangokunokwenzeka. Bangakuxhumanisa nezinsizakusebenza kanye nezinsizakalo zokusekela ezingasiza umndeni wakho kulesi sikhathi esinzima.

Kangangokunokwenzeka, jabulelani isikhathi umndeni wakho osichitha ndawonye. Thandanani futhi nisekelane. Zamani ukuqoqa izinkumbulo ezinhle eningasoze nazikhohlwa. Ungazami ukuhamba lolu hambo wedwa, baningi abantu abangakusiza.

I- Miller-Dieker Syndrome, i-lissencephaly, intuthuko yobuchopho, izifo zofuzo, i-chromosome 17, impilo yezingane, ukubambezeleka kwentuthuko