Ingabe ingane yakho inalezi zimpawu? Ake sifunde nge-Cohen Syndrome.

Wake wazibuza ukuthi kungani abanye abantwana beziphatha futhi bekhula ngendlela ehlukile kunezinye? Ngezinye izikhathi, ngisho nezinto ezincane zingaba nendaba enkulu ngemuva kwazo. Namuhla, sizokhuluma ngesimo sofuzo esithinta izinto eziningi ezinganeni, njengokubukeka kwazo, ukukhula, kanye namandla emisipha. Lesi simo sibizwa ngokuthi iCohen Syndrome.

Iyini i-Cohen Syndrome?

Kalula nje, i-Cohen Syndrome yisimo esibangelwa ukuguquka kwezakhi zofuzo. Ingathinta izingxenye eziningi zomzimba, okuhlanganisa ukubona, ukukhula kwengane, ithoni yemisipha, kanye namakhono obuhlakani. Ingabangela nezimpawu zomzimba njengekhanda elincane, izinwele ezijiyile, kanye nobude obufushane.

Izingane ezizalwa nalesi simo zinokulibaziseka kokukhula . Lokhu kusho ukuthi izinto ezifana nokugingqika, ukuhamba, nokukhuluma zingase zephuze kunokulindelekile. Isibonelo, ngenkathi ingane yomngane wakho ingase igingqike ezinyangeni eziyisithupha, ingane enalesi simo ingathatha isikhathi eside. Kodwa-ke, naphezu kwalokhu kulibaziseka, lezi zingane zivame ukuba nomusa kakhulu, zijabule, futhi zinobungane. Zinothando kakhulu lapho zimomotheka futhi zikhuluma.

Lokhu kubangelwa ukuguquka kwezakhi zofuzo, futhi okwamanje akukho ukwelashwa. Nakuba abantu abaningi abane-Cohen Syndrome bephila isikhathi esijwayelekile sokuphila, bazodinga ukwesekwa okuthile kukho konke ukuphila kwabo.

Sivame kangakanani lesi simo esibizwa ngokuthi iCohen Syndrome?

Eqinisweni, i-Cohen Syndrome ayisona isimo esivamile kakhulu. Ezinye izifundo zisikisela ukuthi abantu abangaphansi kwe-1,000 emhlabeni wonke batholakale benalesi simo. Kodwa-ke, njengoba lesi simo sivame ukutholakala singatholakali kahle, inani langempela lingase libe phezulu kakhulu. Ngakho-ke, kubalulekile ukuqaphela lezi zimo.

Ziyini izimpawu zeCohen Syndrome?

Kunezibonakaliso eziningana ze-Cohen Syndrome. Kubalulekile ukukhumbula ukuthi akuwona wonke umuntu ozoba nazo zonke izimpawu. Ake sibheke izimpawu eziyinhloko ezingabonakala:

• Izinkinga zokuthuthukiswa kwengqondo: Lokhu kusho ukuthi kuthatha isikhathi eside ukufunda nokuqonda izinto. Ungase udinge usizo olwengeziwe ngomsebenzi wesikole.
• Ubuthakathaka bemisipha (hypotonia): Umuzwa wobuthakathaka noma ukuxega emzimbeni. Lokhu kungazwakala ngisho nalapho uphakamisa umntwana.
• Ukunyakaza Okukhulu: Ukuguquguquka okukhulu kwamalunga. Ezinye izingane zingagoba imilenze yazo ngezindlela ezingavamile.
• I-Myopia (ukubona eduze) okwandayo ngokuguga: Ukubona izinto eduze kodwa ungaboni izinto kude ngokucacile. Lokhu kuyanda ngokuguga, ngakho-ke kubalulekile ukuhlolwa kwamehlo njalo.
• I-retinal dystrophy noma i-chorioretinitis: Ukulimala engxenyeni yeso esiza ekuboneni. Lokhu kungaholela ekulahlekelweni kancane kancane kokubona.

Izimpawu ezingabonwa yizingane ezisanda kuzalwa

Ungase ubone izinto ezinjengalezi ezinganeni ezisanda kuzalwa:

• Ubunzima bokuncelisa: Ubunzima bokuncelisa umntwana.
• Ukukhala okubuthakathaka noma okuphezulu: Ukukhala komntwana kungase kuhluke, kube buthaka kunokujwayelekile.
• Ubunzima bokuphefumula: Ingane inobunzima bokuphefumula.
• Ubunzima bokukhula kwesisindo: Isisindo somntwana asikhuli kahle.

Kubaluleke kakhulu: Uma ingane yakho inenkinga yokuphefumula noma ibonakala sengathi iphenduka ibe luhlaza okwesibhakabhaka, shayela u-119 noma inombolo yakho yezimo eziphuthumayo yasendaweni ngokushesha bese uyiyisa esibhedlela.

Ukulibaziseka kokukhula kanye nokuziphatha

Izingane zingadinga isikhathi esiningi sokufunda nokukhula kunezinye ezingontanga yazo. Lokhu kubambezeleka kokukhula kungaqala zisencane. Isibonelo, izinto ezifana nokugingqika nokuhlala zodwa zingase zibambezeleke. Ingane yakho ingase iqale ukuhamba ngemva kweminyaka emi-2, kodwa ngaphambi kweminyaka emi-5. Kungase futhi kuthathe isikhathi ukuba iqale ukukhuluma.

Nakuba lesi simo singadala izinselele ezithile zokuziphatha , njengoba kushiwo ngaphambili, izingane eziningi zinobungane kakhulu futhi zijabule. Ziyakuthanda ukuhlangana nabantu nokudlala nabanye.

Kodwa khumbula, lezi zimpawu azibonakali kuzo zonke izingane ngendlela efanayo. Ezinye izingane zingase zingabi nazo zonke lezi zimpawu.

Ziyini izimpawu zomzimba zeCohen Syndrome?

Kunezici eziningana ezivamile zobuso nezomzimba ezibonakala ezinganeni ezine-Cohen Syndrome. Ezinye zalezi zibonakala lapho zizalwa, kanti ezinye ziyabonakala njengoba zikhula.

Izici zobuso:

• I-Microcephaly: Ikhanda elincane kunelivamile.
• Izinwele ezijiyile, amashiya ajiyile, nezinkophe ezinde.
• Amehlo abheke phansi (imifantu ye-palpebral efana namagagasi): Amajwabu amehlo anesimo esifana namagagasi.
• Iphuzu lekhala eliyindilinga.
• Ibanga elifushane phakathi kwekhala nodebe olungaphezulu (i-philtrum).
• Amazinyo angaphezulu avelele.
• Izindlebe ezinkulu.

Ezinye zalezi zici zibonakala kakhulu njengoba ingane ikhula, ngokuvamile ngemva kweminyaka emi-5.

Ezinye izici zomzimba:

Ngaphezu kwalokho, ezinye izimpawu zomzimba zingase zivele ngesikhathi sobuntwana nangemva kwalokho. Lezi zifaka:

• Ukugcwala kwamafutha okungajwayelekile endaweni yesiqu kanye nokuncipha kwamalungu: Lokhu kusho ukuthi ingxenye ephakathi yomzimba (ezungeze isisu) iba nkulu futhi amalungu ancipha.
• Ubude obufushane.
• Ukuthomba okulibazisekile.
• Amasende angakafiki kubafana.
• Ukugoba komgogodla (i-scoliosis noma i-kyphosis).

Yiziphi ezinye izimo ezingase zenzeke nge-Cohen Syndrome?

Izingane ezitholakale zine-Cohen Syndrome zisengozini enkulu yokuthola ezinye izimo ezithinta amasosha omzimba wazo. Kubalulekile ukuzazi lezi futhi.

• I-Neutropenia: Lokhu ukwehla kohlobo lweseli elimhlophe legazi (elibizwa ngokuthi ama-neutrophils) emzimbeni. Lawa ma-neutrophil alwa namagciwane kanye nezifo ezingena emizimbeni yethu. Ngakho-ke uma lezi ziphansi, singagula kalula. Singaba nemfiva njalo, umkhuhlane, kanye nezinye izifo.
• Izimo zokuzivikela komzimba: Lokhu kusho ukuthi amasosha omzimba ahlasela amangqamuzana anempilo emzimbeni. Cabanga ngakho njengebutho lethu elisihlaselayo. Izibonelo zifaka phakathi isifo sikashukela, isifo se-thyroid, kanye nesifo se-celiac (ukungezwani komzimba ne-protein gluten).

Yini ebangela i-Cohen Syndrome?

I-Cohen Syndrome ibangelwa ukuguquka kwezakhi zofuzo ze-VPS13B (ezaziwa nangokuthi i-COH1 gene) . Kalula nje, kuyiphutha esakhini sofuzo emzimbeni wethu.

Cabanga nje, ngaphakathi emizimbeni yethu sinento ebizwa ngokuthi i-Golgi apparatus . Kufana nefektri yokufaka amaprotheni. Uma kwenziwa iphrotheni entsha, umzimba wethu uthumela izinto zokusetshenziswa ku-Golgi apparatus, lapho iguqulwa khona bese ihlanganiswa namanye amaprotheni afanayo ukuze iwahlele. Ngemva kokuba kwenziwe lokhu kuguqulwa, i-Golgi apparatus ipakisha amaprotheni ngemiyalelo yawo bese iwathumela endaweni yawo efanele.

I-gene ye-VPS13B yenza ngqo i-glycosylation , okuyinqubo lapho ama-molecule kashukela enamathela khona kuma-protein. Iphinde isize ukuhlela nokuthumela izimpawu kuma -neurons nasema-fat cell (ama-adipocytes) .

Ngakho-ke, uma kukhona ushintsho ku-VPS13B gene, kufana nokuthi leyo fektri ayikwazi ukusebenza kahle. Lokho kusho ukuthi ayikwazi ukukhiqiza imikhiqizo esezingeni eliphezulu. Yilokho okuholela ezimpawini ze-Cohen Syndrome.

Ingabe i-Cohen Syndrome idluliselwa ngofuzo?

Yebo, i-Cohen Syndrome iyisimo esizuzwa njengefa. Lesi simo sidluliselwa ngendlela ye-autosomal recessive pattern.Uma lokhu kubonakala kunzima ukukuqonda, cabanga ngakho ngale ndlela: Ingane ithola lesi simo lapho izuza amakhophi amabili esakhi sofuzo esinephutha esibangela lokhu (esinye esivela kunina nesinye esivela kuyise). Abazali bemvelo bangaba ngabathwali besakhi sofuzo. Lokho kusho ukuthi abanaso lesi simo ngoba banekhophi eyodwa kuphela yesakhi sofuzo enephutha. Esinye ikhophi siphilile. Kodwa-ke, uma abathwali ababili behlangana, kunethuba lokuthi ingane yabo izoba nalesi simo.

Ubani osengozini enkulu yalokhu?

I-Cohen Syndrome ingathinta noma ubani. Kodwa-ke, lesi simo sivame kakhulu emaqenjini athile abantu. Isibonelo:

• Abantu base-Amish
• Abantu baseFinland
• Abantu bozalo lwamaGreki (iMedithera)
• Abantu bozalo lwase-Ireland

Nakuba lokhu kungeyona into ekhethekile kithi eSri Lanka, kuhle ukwazi.

Yiziphi izinkinga ezingaba khona zeCohen Syndrome?

I-Cohen Syndrome ingabangela izinkinga ezilandelayo:

• Ukutheleleka okuvamile, njengokutheleleka kwendlebe ephakathi (i-otitis media) (ngenxa yokuzivikela komzimba okuphansi ngenxa ye-neutropenia)
• Izinkinga zempilo yamazinyo nezomlomo njenge -gingivitis kanye nezilonda ze-canker .
• Izinkinga zamehlo ezikhulayo.
• Ukukhubazeka kwengqondo emazingeni ahlukahlukene.

I-Cohen Syndrome ihlolwa kanjani?

Udokotela angakwazi ukuthola i-Cohen Syndrome ngemva kokuhlolwa ngokomzimba kanye nezinye izivivinyo. Njengomzali, uma uzizwa sengathi ingane yakho ayifinyeleli izigaba zokukhula ezifanele iminyaka yayo (isib., ukungamomotheki, ukungaphenduli emisindweni, ukungagingqiki, ukungakhulumi njengabanye abantwana), bheka udokotela wengane yakho. Lokhu kungaba uphawu lokuqala lwesimo.

Ukuxilonga i-Cohen Syndrome kungaba nzima ngezinye izikhathi ngoba izimpawu zayo zingafana nezinye izimo eziningi. Ukuhlolwa kungasiza udokotela wakho ukuthi akhiphe lezi zimo. Ukuhlolwa kwegazi ngokwezakhi zofuzo kungakhomba ukuguquka kwezakhi zofuzo okubangela lezi zimpawu.

Iphathwa kanjani i-Cohen Syndrome?

Okwamanje akukho ukwelashwa kwe-Cohen Syndrome. Ukwelashwa kuhloselwe kakhulu ukulawula izimpawu nokusiza ingane iphile kahle ngangokunokwenzeka. Lokhu kungafaka:

• Izinhlelo zemfundo zokungenelela kusenesikhathi: Izinhlelo ezikhethekile ezisiza intuthuko nokufunda kwengane.
• Ukwelashwa Komsebenzi: Ukwelashwa okukusiza ukuthi wenze imisebenzi yansuku zonke (njengokudla, ukugqoka, nokudlala) ngokuzimela.
• Ukwelashwa ngokomzimba: Ukwelashwa okusiza ukuthuthukisa ukunyakaza komzimba kanye namandla emisipha. Lokhu kubaluleke kakhulu ekulahlekelweni yi-hypotonia.
• Ukwelashwa ngenkulumo: Ukwelashwa okusiza ukuthuthukisa ikhono lokukhuluma nokuxhumana nabanye.
• Ukugqoka izibuko noma ukuqeqeshwa kokubona okuphansi.

I-neutropenia ehlotshaniswa ne-Cohen Syndrome ivame ukwelashwa ngokujova ngaphansi kwesikhumba somuthi obizwa ngokuthi i-Granulocyte-Colony Stimulating Factor (G-CSF) . Lokhu kukhuthaza umongo wethambo ukuthi ukhiqize amaseli egazi amhlophe engeziwe, okunciphisa ingozi yokutheleleka.

Uma ingane yakho inezifo ezithathelwanayo njalo, udokotela uzoyinika ama-antibiotic ukuze ayiphathe njengoba kudingeka.

Ingakanani iminyaka yokuphila komuntu one-Cohen Syndrome?

Ngenxa yokuthi i-Cohen Syndrome ayisona isimo esivamile kakhulu, abukho ubufakazi obanele bokusho ukuthi sithinta kanjani impilo yomuntu. Nakuba abantu abaningi abanalesi simo bephila isikhathi esijwayelekile sokuphila, akubona bonke abantu abaphila ngaso. Lokhu kungathinta impilo yabo, ikakhulukazi uma ingane yakho inezinye izimo ezithinta amasosha omzimba (njengokutheleleka okuvamile, okunzima).

Iyini i-prognosis ye-Cohen Syndrome?

I-Cohen Syndrome ingathinta izici eziningi zokuphila kwengane yakho. Kodwa-ke, ngokwelashwa okufanele nokunakekelwa ngothando, cishe bazoba nesibikezelo esihle.

Udokotela uzoncoma izindlela zokwelapha ezahlukahlukene ezihambisana nezimpawu zazo. Lokhu kungahluka kumuntu nomuntu. Ukwelashwa kuvame ukufaka phakathi ukwelashwa nezinhlelo zemfundo. Lokhu kusiza ingane ukuthi ifinyelele izigaba zokukhula ezifanele iminyaka yayo.

Ingane yakho ingase ithintwe yizinkinga zokubona nezinkinga zamazinyo. Lokhu kuvame ukuqala lapho ifika eminyakeni yesikole. Ngakho-ke, qhubeka ubona uchwepheshe wokunakekelwa kwamehlo , udokotela wamazinyo, kanye nabanye abahlinzeki bezempilo abanconywayo ukuze baqaphe izimpawu zabo njengoba zikhula.

Ingabe i-Cohen Syndrome ingavinjelwa?

Ngenxa yokuthi i-Cohen Syndrome iyisimo sofuzo, ayikho indlela yokusivimbela . Uma uhlela ukuqala umndeni, futhi othile emndenini wakho enalesi simo sofuzo, noma uma ufuna ukwazi ngengozi yakho yokuba nengane enesifo sofuzo njenge-Cohen Syndrome, kubaluleke kakhulu ukukhuluma nomhlinzeki wakho wokunakekelwa kokukhulelwa noma umhlinzeki wezempilo mayelana nokuhlolwa/ukwelulekwa ngofuzo .

Kufanele ngimbone nini udokotela?

Njengomnakekeli wengane yakho, umazi kangcono. Uma ubona noma yini engavamile noma engajwayelekile ekukhuleni noma ekukhuleni kwayo, xhumana nodokotela wayo. Ungesabi ukukhuluma ngayo, noma ngabe kuyinto encane nje.

Nakisisa izinyathelo zokukhula kwengane yakho. Kuvamile ukuthi izingane ezitholakale zine-Cohen Syndrome zithathe isikhathi eside ukufinyelela izigaba ezibalulekile njengokugoqa nokukhuluma amazwi azo okuqala. Udokotela wakho angakuqondisa ukuthi ungayisiza kanjani ingane yakho phakathi nalesi sikhathi.

Isimo Esiphuthumayo! Uma ingane yakho inenkinga yokuphefumula, noma inesikhumba nezinzipho eziphaphathekile noma eziluhlaza okwesibhakabhaka, shayela izinsizakalo eziphuthumayo ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma ukhuluma nodokotela ngengane yakho, kungaba usizo ukubuza imibuzo efana nale:

• Yini okufanele ngiyenze uma ingane yami ilahlekelwa yizinyathelo zokukhula?
• Yiziphi izimpawu okufanele ngiziqaphele?
• Yikuphi ukwelashwa okuncomayo?
• Ingabe ikhona imiphumela emibi yokwelashwa?
• Ngingamsiza kanjani ingane yami ukuba iphumelele esikoleni?
• Ingabe zikhona ezinye izinhlangano zabazali noma izinhlangano esingazifinyelela ukuze sithole ukwesekwa?

Ingabe i-Cohen Syndrome Autism?

Cha. I-Autism Spectrum Disorder (ASD) iyisifo esibangelwa ukukhula kwemizwa . I-Cohen Syndrome iyisimo sofuzo. Lokhu kokubili akufani. Kodwa-ke, izingane eziningi ezitholakale zine-Cohen Syndrome zingase zibe nezimpawu ezifana ne-autism (ASD) (isib. ubunzima bomphakathi, ukuziphatha okuphindaphindiwe), noma zingase zibe ne-ASD kanye ne-Cohen Syndrome. Udokotela angakuchaza lokhu ngokucacile.

Okokugcina, okufanele ukukhumbule (Umyalezo Wokuya Ekhaya)

Kuvamile ukuzizwa ucindezelekile futhi udabuke lapho ingane yakho ingafinyeleli izigaba zobudala bayo. Kungaba futhi ukucindezeleka okukhulu njengoba odokotela beqhuba izivivinyo ukuze bathole ukuthi kwenzekani. Kodwa-ke, yize iCohen Syndrome iyisimo esingavamile, odokotela bafunda kabanzi ngalesi simo nokuthi bangasiphatha kanjani nsuku zonke.

Izinhlelo zokungenelela kusenesikhathi zingasiza ingane yakho ukuba ifinyelele imigomo yayo yokukhula, noma ngabe kuthatha isikhathi eside kunezinye ezineminyaka yazo. Njengoba i-Cohen Syndrome ingathinta namakhono engqondo engane, izodinga uthando lwakho, ukwesekwa, kanye nosizo lwakho kukho konke ukuphila kwayo.

Ungalokothi uzizwe unesizungu.Odokotela, abelaphi, kanye namanye amaqembu okusekelana akhona ukukusiza wena nengane yakho. Buza imibuzo yakho, wabelane ngemizwa yakho. Sikufisela amandla okunikeza ingane yakho okungcono kakhulu!

Isifo sikaCohen , Izifo Zofuzo, Ukulibaziseka Kokukhula, Impilo Yengane, I-Neutropenia, I-Microcephaly, I-Hypotonia