Ngaba umntwana wakho unazo ezi mpawu? Masifunde ngeCohen Syndrome.

Ngaba wakha wazibuza ukuba kutheni abanye abantwana beziphatha kwaye bekhula ngendlela eyahlukileyo kunabanye? Ngamanye amaxesha, nezinto ezincinci zinokuba nembali enkulu emva kwazo. Namhlanje, siza kuthetha ngemeko yemfuza echaphazela izinto ezininzi ebantwaneni, njengenkangeleko yabo, ukukhula, kunye namandla emisipha. Le meko ibizwa ngokuba yiCohen Syndrome.

Yintoni iCohen Syndrome?

Ngamafutshane, iCohen Syndrome yimeko ebangelwa kukuguquka kwezakhi zofuzo. Ingachaphazela iindawo ezininzi zomzimba, kubandakanya ukubona, ukukhula komntwana, ithoni yemisipha, kunye nobuchule bokucinga. Inokubangela neempawu zomzimba ezifana nentloko encinci, iinwele ezixineneyo, kunye nobude obufutshane.

Abantwana abazelwe nale meko banokulibaziseka kokukhula . Oku kuthetha ukuba izinto ezifana nokuqengqeleka, ukuhamba, nokuthetha zisenokufika emva kwexesha elilindelweyo. Umzekelo, ngelixa umntwana womhlobo wakho esenokuqengqeleka kwiinyanga ezintandathu, umntwana onesi sifo unokuthatha ixesha elide. Nangona kunjalo, nangona oku kulibaziseka, aba bantwana badla ngokuba nobubele kakhulu, bonwabile, kwaye banobuhlobo. Banothando kakhulu xa bencuma kwaye bethetha.

Oku kubangelwa kukuguquka kwezakhi zofuzo, kwaye okwangoku akukho nyango. Nangona uninzi lwabantu abaneCohen Syndrome bephila ubomi obuqhelekileyo, baya kufuna inkxaso ebomini babo bonke.

Ixhaphake kangakanani le meko ibizwa ngokuba yiCohen Syndrome?

Enyanisweni, iCohen Syndrome ayisiyonto ixhaphakileyo. Ezinye izifundo zibonisa ukuba bangaphantsi kwe-1,000 abantu abafunyenwe benale meko kwihlabathi liphela. Nangona kunjalo, ekubeni le meko idla ngokungafumaneki kakuhle, inani lokwenyani linokuba phezulu kakhulu. Ke ngoko, kubalulekile ukuba uzazi ezi meko.

Zithini iimpawu zeCohen Syndrome?

Kukho iimpawu ezininzi zeCohen Syndrome. Kubalulekile ukukhumbula ukuba ayinguye wonke umntu oza kuba nazo zonke ezi mpawu. Makhe sijonge iimpawu eziphambili ezinokubonwa:

• Iingxaki zophuhliso lwengqondo: Oku kuthetha ukuba kuthatha ixesha elide ukufunda nokuqonda izinto. Ungadinga uncedo olongezelelweyo ngomsebenzi wesikolo.
• Ubuthathaka bemisipha (hypotonia): Ukuziva ubuthathaka okanye ukuqhwalela emzimbeni. Oku kunokuvakala nokuba uphakamisa umntwana.
• Ukuhambahamba: Ukuguquguquka kakhulu kwamalungu. Abanye abantwana banokugoba amalungu abo ngeendlela ezingaqhelekanga.
• I-Myopia (ukubona izinto ezikufutshane) eyandayo xa ukhula: Ukubona izinto kufutshane kodwa ungaziboni izinto ezikude ngokucacileyo. Oku kuyanda xa ukhula, ngoko ke kubalulekile ukuba uhlolwe amehlo rhoqo.
• I-Retinal dystrophy okanye i-chorioretinitis: Ukonakala kwenxalenye yeliso enceda ekuboneni. Oku kunokukhokelela ekulahlekelweni kancinci kancinci kokubona.

Iimpawu ezinokubonwa ziintsana ezisandul' ukuzalwa

Usenokubona izinto ezinje kwiintsana ezisandul’ ukuzalwa:

• Ubunzima bokuncancisa: Ubunzima bokuncancisa umntwana.
• Ukukhala okubuthathaka okanye okuphezulu: Ukukhala komntwana kusenokuba kwahlukile, kube buthathaka kunesiqhelo.
• Ubunzima bokuphefumla: Umntwana unobunzima bokuphefumla.
• Ubunzima bokukhula kwesisindo: Ubunzima bomntwana abunyuki ngokufanelekileyo.

Kubaluleke kakhulu: Ukuba umntwana wakho unengxaki yokuphefumla okanye ubonakala ngathi ujika abe luhlaza okwesibhakabhaka, fowunela u-119 okanye inombolo yakho yongxamiseko yasekuhlaleni ngoko nangoko uze umse esibhedlele.

Ukulibaziseka kophuhliso kunye nokuziphatha

Abantwana banokudinga ixesha elingakumbi lokufunda nokukhula kunabanye abaneminyaka yabo. Oku kulibaziseka kokukhula kunokuqala kwasebuntwaneni. Umzekelo, izinto ezifana nokuqengqeleka nokuhlala wedwa zinokulibaziseka. Umntwana wakho usenokuqala ukuhamba emva kweminyaka emi-2, kodwa ngaphambi kweminyaka emi-5. Kusenokuthatha ixesha ukuba aqale ukuthetha.

Nangona le meko inokubangela iingxaki ezithile zokuziphatha , njengoko bekutshiwo ngaphambili, uninzi lwabantwana luthanda kakhulu ukuncokola nabantu kwaye bonwabile. Bathanda ukuncokola nokudlala nabanye abantu.

Kodwa khumbula, ezi mpawu azibonakali kubo bonke abantwana ngendlela efanayo. Abanye abantwana basenokungabi nazo zonke ezi mpawu.

Zithini iimpawu zomzimba zeCohen Syndrome?

Kukho iimpawu ezininzi eziqhelekileyo zobuso nezomzimba ezibonwa ebantwaneni abaneCohen Syndrome. Ezinye zezi zibonakala xa bezalwa, ngelixa ezinye zibonakala xa bekhula.

Iimpawu zobuso:

• I-Microcephaly: Intloko encinci kuneqhelekileyo.
• Iinwele ezijiyileyo, amashiya ajiyileyo, kunye neenkophe ezinde.
• Amehlo ajonge ezantsi (imifantu ye-palpebral efana namaza): Iinkophe zinomfanekiso ofana namaza.
• Impumlo engqukuva.
• Umgama omfutshane phakathi kwempumlo nomlomo ongaphezulu (i-philtrum).
• Amazinyo aphezulu avele ngaphandle.
• Iindlebe ezinkulu.

Ezinye zezi mpawu zibonakala ngakumbi njengoko umntwana ekhula, ngesiqhelo emva kweminyaka emi-5.

Ezinye iimpawu zomzimba:

Ukongeza, ezinye iimpawu zomzimba zinokuvela ngexesha lobuntwana nasemva koko. Ezi ziquka:

• Ukugcwala kwamafutha ngendlela engaqhelekanga kwindawo yesiqu kunye nokuncitshiswa kwamalungu: Oku kuthetha ukuba inxalenye ephakathi yomzimba (ejikeleze isisu) iba nkulu kwaye amalungu ancipha.
• Ubude obufutshane.
• Ukufikisa okulibazisekileyo.
• Amasende angathobeliyo kumakhwenkwe.
• Ukugoba komqolo (i-scoliosis okanye i-kyphosis).

Ziziphi ezinye iimeko ezinokwenzeka ngeCohen Syndrome?

Abantwana abafunyaniswe beneCohen Syndrome basengozini enkulu yokuhlaselwa zezinye izifo ezichaphazela amajoni abo omzimba. Kubalulekile ukuba uzazi ezi zinto.

• I-Neutropenia: Oku kukuncipha kohlobo lweeseli ezimhlophe zegazi (ezibizwa ngokuba zii-neutrophils) emzimbeni. Ezi neutrophils zilwa neentsholongwane kunye nosulelo olungena emizimbeni yethu. Ngoko ke xa ezi ziphantsi, sinokugula lula. Singafumana umkhuhlane rhoqo, umkhuhlane, kunye nezinye izifo.
• Iimeko zokuzikhusela komzimba: Oku kuthetha ukuba inkqubo yomzimba yokuzikhusela ihlasela iiseli ezisempilweni emzimbeni. Cinga ngayo njengomkhosi wethu osihlaselayo. Imizekelo ibandakanya isifo seswekile, isifo se-thyroid, kunye nesifo se-celiac (i-allergy kwi-protein gluten).

Yintoni ebangela iCohen Syndrome?

I-Cohen Syndrome ibangelwa kukuguquka kwejini ye-VPS13B (ekwaziwa ngokuba yijini ye-COH1) . Ngamafutshane, sisiphene kwijini emzimbeni wethu.

Khawuthelekelele, ngaphakathi emizimbeni yethu sinento ebizwa ngokuba yiGolgi apparatus . Ifana nomzi-mveliso wokupakisha iiproteni. Xa kusenziwa iproteni entsha, umzimba wethu uthumela izinto eziluhlaza kwiGolgi apparatus, apho iguqulwa khona ize idityaniswe nezinye iiproteni ezifanayo ukuze zihlulwe. Emva kokuba kwenziwe olu tshintsho, iGolgi apparatus ipakisha iiproteni ngemiyalelo yazo ize izithumele kwindawo yazo efanelekileyo.

I-VPS13B gene yenza ngokukodwa i-glycosylation , inkqubo apho iimolekyuli zeswekile zincamathela khona kwiiproteni. Ikwanceda ekuhleleni nasekuthumeleni imiqondiso kwii -neurons nakwii-fat cells (adipocytes) .

Ngoko ke, xa kukho utshintsho kwi-gene ye-VPS13B, kuba ngathi loo mzi-mveliso awukwazi ukusebenza kakuhle. Oko kuthetha ukuba awukwazi ukuvelisa iimveliso ezisemgangathweni. Yiloo nto ekhokelela kwiimpawu zeCohen Syndrome.

Ngaba iCohen Syndrome idluliselwa kwilifa?

Ewe, iCohen Syndrome yimeko yelifa. Le meko idluliselwa ngendlela ye-autosomal recessive pattern.Ukuba oku kubonakala kunzima ukukuqonda, cinga ngale ndlela: Umntwana ufumana le meko xa efumana iikopi ezimbini zejini enesiphene eyibangelayo (enye evela kunina kwaye enye ivela kuyise). Abazali bemvelo banokuba ngabathwali bejini. Oko kuthetha ukuba abanayo le meko kuba banekopi enye kuphela yejini enesiphene. Enye ikopi isempilweni. Nangona kunjalo, ukuba abathwali ababini bayadibana, kukho ithuba lokuba umntwana wabo abe nale meko.

Ngubani osengozini enkulu yoku?

I-Cohen Syndrome inokuchaphazela nabani na. Nangona kunjalo, le meko ixhaphake kakhulu kumaqela athile abantu. Umzekelo:

• Abantu base-Amish
• Abantu baseFinland
• Abantu abazalwa ngamaGrike (eMeditera)
• Abantu abazalwa eIreland

Nangona oku kungaqhelekanga kangako kuthi eSri Lanka, kulungile ukwazi.

Ziziphi iingxaki ezinokubakho zeCohen Syndrome?

I-Cohen Syndrome inokubangela ezi ngxaki zilandelayo:

• Usulelo oluqhelekileyo, olufana nosulelo lwendlebe ephakathi (i-otitis media) (ngenxa yokungabikho komzimba oqinileyo ngenxa ye-neutropenia)
• Iingxaki zempilo yamazinyo nezomlomo ezifana ne -gingivitis kunye nezilonda ze-canker .
• Iingxaki zamehlo ezikhulayo.
• Ukukhubazeka kwengqondo kumanqanaba ahlukeneyo.

Ifunyanwa njani iCohen Syndrome?

Ugqirha angaxilonga iCohen Syndrome emva kovavanyo lomzimba kunye nezinye iimvavanyo. Njengomzali, ukuba uvakalelwa kukuba umntwana wakho akafikeleli kwinqanaba lokukhula elifanelekileyo kwiminyaka yakhe (umz., akancumi, akaphenduli kwizandi, akaqengqeleki, akathethi njengabanye abantwana), bona ugqirha womntwana wakho. Oku kungaba luphawu lokuqala lwesi sifo.

Ukufumanisa iCohen Syndrome ngamanye amaxesha kunokuba nzima kuba iimpawu zayo zinokufana nezinye iimeko ezininzi. Uvavanyo lunokunceda ugqirha wakho ukuba angazifumani ezi meko. Uvavanyo lwegazi oluvela kwimfuza lunokuchonga utshintsho lwemfuza olubangela ezi mpawu.

Iphathwa njani iCohen Syndrome?

Okwangoku akukho nyango lweCohen Syndrome. Unyango lujolise kakhulu ekulawuleni iimpawu kunye nokunceda umntwana aphile kakuhle kangangoko kunokwenzeka. Oku kungabandakanya:

• Iinkqubo zemfundo zokungenelela kwangethuba: Iinkqubo ezikhethekileyo ezinceda ekuphuhliseni nasekufundeni komntwana.
• Unyango lomsebenzi: Unyango olukuncedayo ukuba wenze imisebenzi yemihla ngemihla (njengokutya, ukunxiba, kunye nokudlala) ngokuzimela.
• Unyango lomzimba: Unyango olunceda ukuphucula intshukumo yomzimba kunye namandla emisipha. Oku kubaluleke kakhulu kwi-hypotonia.
• Unyango lokuthetha: Unyango olunceda ekuphuhliseni amandla okuthetha nokunxibelelana nabanye.
• Ukunxiba iiglasi okanye ukuzilolonga ukubona kancinci.

I-neutropenia enxulunyaniswa neCohen Syndrome idla ngokuphathwa ngokujova ngaphantsi kwesikhumba seyeza elibizwa ngokuba yiGranulocyte-Colony Stimulating Factor (G-CSF) . Oku kukhuthaza umongo wethambo ukuba uvelise iiseli ezimhlophe zegazi ezingaphezulu, nto leyo enciphisa umngcipheko wosulelo.

Ukuba umntwana wakho unezifo ezixhaphakileyo, ugqirha uya kumyalela amayeza okubulala iintsholongwane ukuze amnyange xa ​​kufuneka.

Ingakanani iminyaka yobomi bomntu oneCohen Syndrome?

Ngenxa yokuba iCohen Syndrome ayisiyonto ixhaphakileyo, akukho bungqina baneleyo bokuchaza indlela echaphazela ngayo ubomi bomntu. Nangona abantu abaninzi abanale meko bephila ubomi obuqhelekileyo, ayingabo bonke abantu abaphila ubomi obuqhelekileyo. Oku kunokuchaphazela ubomi bomntwana wakho, ingakumbi ukuba umntwana wakho unezinye izifo ezichaphazela inkqubo yomzimba yokuzikhusela (ezifana nosulelo oluqhelekileyo nolunzima).

Ithini ingqikelelo yeCohen Syndrome?

I-Cohen Syndrome inokuchaphazela iinkalo ezininzi zobomi bomntwana wakho. Nangona kunjalo, ngonyango olufanelekileyo kunye nenkathalo yothando, kusenokwenzeka ukuba umntwana wakho abe nekamva elihle.

Ugqirha uza kucebisa iintlobo ngeentlobo zonyango ezilungiselelwe iimpawu zakhe. Ezi zinokuhluka kumntu nomntu. Unyango ludla ngokubandakanya unyango kunye neenkqubo zemfundo. Ezi zinceda umntwana afikelele kwinqanaba lokukhula elifanelekileyo kwiminyaka yakhe.

Umntwana wakho unokuchaphazeleka ziingxaki zokubona kunye neengxaki zamazinyo. Ezi zinto zihlala ziqala xa efika kwiminyaka yokufunda. Ngoko ke, qhubeka ubona ingcali yokhathalelo lwamehlo , ugqirha wamazinyo, kunye nabanye ababoneleli bezempilo abacetyiswayo ukuze bajonge iimpawu zabo njengoko bekhula.

Ngaba iCohen Syndrome ingathintelwa?

Ngenxa yokuba iCohen Syndrome yimeko yemfuza, akukho ndlela yokuyithintela . Ukuba uceba ukuqala usapho, kwaye kukho umntu kusapho lwakho onayo le meko yemfuza, okanye ukuba ufuna ukwazi ngomngcipheko wokuba nomntwana onesifo esizuzwe njengeCohen Syndrome, kubaluleke kakhulu ukuthetha nomboneleli wakho wokhathalelo lokukhulelwa okanye umboneleli wakho wezempilo malunga novavanyo/ingcebiso yemfuza .

Ndifanele ndimbone nini ugqirha?

Njengomnakekeli womntwana wakho, umazi ngcono. Ukuba ubona nantoni na engaqhelekanga okanye engaqhelekanga ekukhuleni okanye ekuphuhliseni kwakhe, qhagamshelana nogqirha wakhe. Musa ukoyika ukuthetha ngayo, nokuba yinto encinci nje.

Nika ingqalelo kwiindlela umntwana wakho akhula ngazo . Kuqhelekile ukuba abantwana abafunyaniswe beneCohen Syndrome bathathe ixesha elide ukufikelela kwiindlela ezifana nokujikajika nokuthetha amazwi abo okuqala. Ugqirha wakho angakukhokela kwindlela yokunceda umntwana wakho ngeli xesha.

Ingxamiseko! Ukuba umntwana wakho unengxaki yokuphefumla, okanye ulusu lwakhe lumhlophe okanye luluhlaza okwesibhakabhaka kunye nezipikili, fowunela iinkonzo zongxamiseko ngoko nangoko.

Ndingayibuza yiphi imibuzo ugqirha wam?

Xa uthetha nogqirha ngomntwana wakho, kunokuba luncedo ukubuza imibuzo efana nale:

• Ndingenza ntoni ukuba umntwana wam uphoswa ziindlela zokukhula ezifunekayo?
• Zeziphi iimpawu ekufuneka ndizijonge?
• Loluphi unyango olucebisayo?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga zonyango?
• Ndingamnceda njani umntwana wam ukuba aphumelele esikolweni?
• Ngaba zikho ezinye iiqela zabazali okanye imibutho esinokufikelela kuyo ukuze sifumane inkxaso?

Ngaba iCohen Syndrome Autism?

Hayi. I-Autism Spectrum Disorder (ASD) sisifo se-neurodevelopmental . I-Cohen Syndrome yimeko yemfuza. Ezi zimbini azifani. Nangona kunjalo, abantwana abaninzi abafunyaniswe bene-Cohen Syndrome banokuba neempawu ezifana ne-autism (ASD) (umz., ubunzima bentlalo, ukuziphatha okuphindaphindwayo), okanye banokuba ne-ASD kunye ne-Cohen Syndrome. Ugqirha angakuchaza ngokucacileyo oku.

Okokugqibela, yintoni ekufuneka uyikhumbule (Umyalezo Wokuya Ekhaya)

Kuqhelekile ukuziva uxinezelekile kwaye ulusizi xa umntwana wakho engafikeleli kwinqanaba elifanele ubudala bakhe. Kunokuba luxinzelelo ngakumbi njengoko oogqirha besenza uvavanyo lokufumanisa ukuba kwenzeka ntoni. Nangona kunjalo, nangona iCohen Syndrome ingaqhelekanga, oogqirha bafunda ngakumbi ngale meko kunye nendlela yokuyilawula yonke imihla.

Iinkqubo zokungenelela kwangethuba zinganceda umntwana wakho afezekise iinjongo zakhe zophuhliso, nokuba kuthatha ixesha elide kunezinye ezineminyaka yakhe. Ekubeni iCohen Syndrome inokuchaphazela ubuchule bomntwana bokucinga, baya kuyidinga uthando lwakho, inkxaso kunye noncedo ebomini babo bonke.

Ungaze uzive unesizungu.Oogqirha, abagqirha bezonyango, kunye namanye amaqela enkxaso akhona ukunceda wena nomntwana wakho. Buza imibuzo yakho, wabelane ngeemvakalelo zakho. Sikunqwenelela amandla okunika umntwana wakho okona kulungileyo!

Isifo sikaCohen , Izifo zofuzo, ukulibaziseka kophuhliso, Impilo yomntwana, i-Neutropenia, i-Microcephaly, i-Hypotonia