Ingaba umntwana wakho unengxaki engaqhelekanga yokukhula kwengqondo? (iMiller-Dieker Syndrome)

Namhlanje siza kuthetha ngesihloko esingaqhelekanga nesinobuzaza kubazali. Esi sisifo esibizwa ngokuba yiMiller-Dieker Syndrome. Esi sisifo semfuza esichaphazela uphuhliso lwengqondo yomntwana wakho. Usenokuba awukaze uve ngeli gama ngaphambili, kodwa ukwazi ezi meko kunokuba yinto ebalulekileyo, ingakumbi kubazali abatsha.

Yintoni iMiller-Dieker Syndrome?

Ngamafutshane, iMiller-Decker syndrome sisifo esingaqhelekanga semfuza apho inxalenye engaphandle yengqondo yomntwana wakho, ebizwa ngokuba yi-cerebral cortex , igudile. Ngokwesiqhelo, kwingqondo ephilileyo, le nxalenye inemiqolo emininzi entsonkothileyo, imibimbi kunye nemiqolo. Ifana ne-walnut. Kodwa kubantwana abanale meko, loo miqolo kunye nemiqolo ayidalwanga kakuhle.

Umntwana onesi sifo unokubonakalisa iimpawu ezithile zomzimba xa ezalwa. Ngaphandle koko, iingxaki ezinkulu zophuhliso nezemithambo-luvo ziqala ukubonakala malunga neenyanga ezi-6 ubudala. Oku kuqhele ukubangelwa lutshintsho olungaqhelekanga kwiichromosomes. Nangona kunjalo, kwezinye iimeko, esi sifo sinokubangelwa kukuguquka kwezakhi zofuzo okuzuzwe kumzali.

Ngelishwa, akukho nyango lwesifo sikaMiller-Decker. Sisifo esithintela ubomi, apho uninzi lwabantwana lusweleka ngaphambi kokuba lufikelele kwiminyaka emibini.

Le meko yaqala ukuchazwa ngeminyaka yoo-1960 ngoogqirha ababini, uJames Q. Miller noH. Dieker. Yiyo loo nto ibizwa ngokuba yi-"Miller-Dieker syndrome."

Ngawaphi amanye amagama ale nto?

Ugqirha wakho angasebenzisa igama lezonyango elithi lissencephaly kwi-Miller-Decker syndrome. I-Lissencephaly ithetha "ingqondo egudileyo." Ungaweva la magama:

• I-Classic lissencephaly syndrome
• I-MDS
• isifo sikaMiller-Dieker i-lissencephaly

Ixhaphake kangakanani le meko?

Isifo sikaMiller-Decker sisifo esingaqhelekanga kakhulu . Sichaphazela malunga nesinye kwi-100,000 yeentsana ezisandul’ ukuzalwa. Oku kuthetha ukuba naseSri Lanka, kunqabile ukufumana umntwana onesi sifo.

Yintoni isizathu soku?

Abantwana abane-Miller-Decker syndrome banenxalenye elahlekileyo ye-chromosome 17.Zikho. Oko kuthetha ukuba balahlekelwe yi-gene enye okanye ezingaphezulu. Cinga ngayo ngokungathi sineencwadi ezimbalwa zemiyalelo emizimbeni yethu, esizibiza ngokuba zii-chromosomes. Ngaphakathi kwezi chromosomes kukho ii-genes, eziyikhowudi ezilawula yonke into emizimbeni yethu. Ngoko ke, oku kulahleka kwe-genes kudla ngokwenzeka ngokungacwangciswanga, oko kukuthi, ngaphandle kwesizathu esicacileyo. Oku kulahleka kwe-genes kunokwenzeka kwi-sperm, kwiqanda, okanye ngexesha lokukhula komntwana emva kokukhulelwa esibelekweni.

Kwiintsapho ezininzi, xa kuzalwa umntwana onesi sifo, akukho mntu kusapho lwakhe okhe waba naso ngaphambili. Oko kuthetha ukuba akukho mbali yosapho.

Nangona kunjalo, ngamanye amaxesha, malunga nentsapho enye kwezili-10 , omnye wabazali unejini etshintshileyo kancinci kwi-chromosome 17, nto leyo ethetha ukuba ihlelwe ngendlela engalunganga. Oogqirha bakubiza oku ngokuthi yi- balanced translocation . Ngenxa yokuba zonke iijini ezikule chromosome zikhona, oko kuthetha ukuba akukho zijini zingekhoyo, umama okanye utata akayi kubonisa iimpawu ze-Miller-Decker syndrome. Nangona kunjalo, xa umzali onolu hlobo 'lwe-translocation' enomntwana, umntwana unokulahlekelwa ziinxalenye zejini ngenxa ye-disordered arrangement.

Oku kusilela kwezakhi zofuzo kuchaphazela indlela ingqondo ekhula ngayo ngelixa umntwana esesesibelekweni. Njengoko bekutshiwo ngaphambili, inxalenye engaphandle yengqondo (i-cerebral cortex) ayinazo iindawo ezigobileyo nezingenamiqolo efanelekileyo, kwaye loo nxalenye iba bushelelezi.

Zithini iimpawu?

Isifo sikaMiller-Decker sichaphazela zombini uphuhliso lomntwana ngokwasemzimbeni nangokwengqondo . Ubunzima beempawu buxhomekeke ekubeni ingqondo yomntwana ayikhuli kangakanani.

Umntwana unokufumana iimpawu ezifana nale:

• Ubunzima bokuphefumla
• Ukulibaziseka kokukhula - Oku kuthetha ukuba umntu akakwazi ukwenza izinto ezihambelana nobudala bakhe emva kwexesha.
• Ubunzima bokuginya (dysphagia)
• Iingxaki zokutya
• Ithoni yemisipha ephantsi (hypotonia) - Oku kuthetha ukuba imisipha emzimbeni ibuthathaka kwaye ayinamandla.
• Ukuqina kwemisipha okanye ukuqaqamba
• Ukuxhuzula - Imeko ebangela ukuxhuzula rhoqo.
• Uphuhliso olucothayo lomzimba

Iimpawu ezinokubonwa kwinkangeleko yomntwana

Abantwana abane-Miller-Decker syndrome badla ngokuba neentloko ezincinci kuneziqhelekileyo. Oku kubizwa ngokuba yi -microcephaly . Basenokuba neempawu ezithile zobuso ezahlukileyo:

• Iindlebe zibekwe phantsi kunesiqhelo kwaye zinokuba nemilo engaqhelekanga.
• Ibunzi livele phambili.
• Impumlo incinci kwaye isenokuphakama.
• Inxalenye ephakathi yobuso ibonakala ngathi itshonile (i-midface hypoplasia) .
• Umlebe ongaphezulu unokuba banzi, kwaye umhlathi ongezantsi unokuba mncinci.

Ziziphi iingxaki ezinokubakho?

Abanye abantwana banokuba nezinye iingxaki xa bezalwa. Umzekelo:

• Iimeko zentliziyo ezizalwa nazo - izifo zentliziyo ezikhoyo ekuzalweni.
• Iminwe isenokuba igobile okanye igobile (nge-clinodactyly) .
• Iingxaki zezintso.
• Ezinye zezitho zesisu zinokuba ngaphandle kwesisu (omphalocele) .

Sifunyaniswa njani esi sifo?

Ezinye iimvavanyo ezenziwa ngexesha lokukhulelwa, ezifana ne-ultrasound scan , zinokunceda ugqirha wakho abone ukuba umntwana wakho uphuhliswa ingqondo ngendlela engaqhelekanga okanye ezinye iimpawu zesifo. Ukuba kurhanelwa oku, ugqirha wakho unokucebisa ukuba kwenziwe i -genetic amniocentesis okanye i-chorionic villus sampling (CVS) . Ezi vavanyo zinokuqinisekisa ukuba umntwana wakho unotshintsho lwe-genetic oluhambelana ne-Miller-Decker syndrome.

Emva kokuba umntwana ezelwe, wena okanye ugqirha wakho nisenokubona ezinye zeempawu zobuso ezikhankanyiweyo ngaphambili. Okanye, umntwana usenokuqala ukuba nokuxhuzula . Amaxesha amaninzi, aba bantwana abadluli kwimigangatho yokukhula komntwana yeenyanga ezintathu ukuya kwezintlanu - njengokuhlala phantsi nokuqengqeleka.

Zithini iindlela zonyango zoku?

Njengoko besitshilo ngaphambili, ngelishwa akukho nyango lwesifo sikaMiller-Decker . Le yimeko ethintela ubomi. Unyango lujolise kakhulu ekulawuleni iimpawu ezifana nokuxhuzula nokwenza umntwana akhululeke kangangoko kunokwenzeka. Ngenxa yobunzima bokuginya, abanye abantwana banokufuna ukondliwa ngetyhubhu (ukondla ngetyhubhu / ukutya okunesondlo) .

Yintoni onokuyenza ukuba umntwana wakho unale meko?

Ukunyamekela nokukhulisa umntwana onesifo esinzima nesithintela ubomi bakhe, esifana nesi , ngumsebenzi onzima kakhulu . Usenokuba nexhala elikhulu, uxinzelelo, kwanoxinzelelo . Ngoko ke, kubaluleke kakhulu ukunyamekela impilo yakho yomzimba neyengqondo ngelixa unyamekela umntwana wakho.

Ungafumana uncedo kwizinto ezifana nezi:

• Fumana iinkonzo zenkxaso ezifunwa ngumntwana wakho, ezinje ngeenkonzo zokubuyisela kwimeko yesiqhelo, unyango lwasekhaya, kunye nezixhobo zokuncedisa.
• Joyina iqela lenkxaso elinabazali babantwana abanjengale. Liza kukunceda uzive ungedwa kwaye ungafunda kumava abanye abantu.
• Funda ngemeko yomntwana wakho kunye nazo naziphi na iimpawu ezichaphazela yena.
• Zinike ixesha . Phumla kancinci, yenza into oyithandayo.
• Fumana iindlela eziphilileyo zokunciphisa uxinzelelo. Kungaba yinto efana nokuhambahamba nomhlobo okanye ukuqala umdlalo omtsha.
• Thetha nogqirha wezempilo yengqondo . Oku kuya kukunika isiqabu esikhulu.
• Ukuba kuyimfuneko, sebenzisa amayeza afana ne-antidepressants njengoko kucetyisiwe ngugqirha.

Ngaba isifo sikaMiller-Decker singathintelwa?

Oko kuthetha ukuba akukho ndlela yokuthintela isifo sikaMiller-Decker, esenzeka ngequbuliso ngaphandle kwesizathu esicacileyo.

Nangona kunjalo, ukuba unomntwana onale meko, uvavanyo lwemfuza lunokwenziwa ukuze kufunyaniswe ukuba wena okanye iqabane lakho ninayo na i -'balanced translocation' ekhankanyiweyo ngaphambili kwi-chromosome 17. Xa umzali one-'translocation' enjalo enomnye umntwana, kudla ngokubakho ithuba elinye kwamathathu lokuba loo mntwana abe ne-Miller-Decker syndrome.

Kungoko ke, kubaluleke kakhulu ukuba wena neqabane lakho nidibane nomcebisi wezemfuza ukuze nithethe ngale ngozi kunye neendlela eninokukhetha kuzo.

Liyintoni ikamva lomntwana onale meko?

Oku kuyadanisa kakhulu ukutsho. Ixesha lokuphila kwabantwana abane-Miller-Decker syndrome lidla ngokuba lifutshane kakhulu . Abantwana abaninzi banesifo sokuxhuzula esinzima esinokuba yingozi ebomini. Okanye, ngenxa yokuba izihlunu zomqala zibuthathaka, iimeko ezifana 'ne-aspiration pneumonia' zinokwenzeka, apho ukutya nokusela kungena emiphungeni. Oku kuyingozi kakhulu.

Uninzi lwabantwana lufa xa luneminyaka emi-2 ubudala. Abanye abantwana banokuphila iminyaka eli-10 ubudala. Nangona kunjalo, ukusinda kwabo baze babe kwishumi elivisayo kuyinto engaqhelekanga.

Ufanele uye nini kugqirha?

Ukuba umntwana wakho unenye yezi mpawu, bonana nogqirha ngokukhawuleza:

• Ukulibaziseka kokukhula - ukuba awuzenzi izinto ezifanele iminyaka yakho.
• Ukuba unengxaki yokuphefumla, yokutya, okanye yokuginya.
• Ukuba unesifo sokuxhuzula rhoqo.
• Ukuba uphuhliso lomzimba lubonakala lucotha.
• Ukuba ubona iimpawu zobuso ezingaqhelekanga okanye iimpawu zomzimba .

Yeyiphi imibuzo ebalulekileyo ekufuneka uyibuze ugqirha?

Wakuba ufumanise ukuba umntwana wakho une-Miller-Deeker syndrome, ungambuza ugqirha imibuzo efana nale:

• Yintoni ebangela ukuba umntwana wam abe ne-Miller-Decker syndrome?
• Zeziphi iindlela zonyango ezinokunceda umntwana wam?
• Ndingenza ntoni ukunceda umntwana wam ekhaya?
• Ngaba mna neqabane lam kufuneka siye kuvavanyo lwemfuza?
• Ziziphi ezinye iingxaki endifanele ndizixhalabele?

Okokugqibela, khumbula

Xa umntwana wakho enesifo esinzima nesithintela ubomi bakhe njengale, kubalulekile ukufuna uncedo kwiingcali kunye neengcali zempilo ezinolwazi ngesi sifo. Ugqirha wakho angakunceda ukulawula iimpawu zomntwana wakho aze amncede akhululeke kangangoko. Banokukudibanisa nezixhobo kunye neenkonzo zenkxaso ezinokunceda usapho lwakho ngeli xesha linzima.

Kangangoko kunokwenzeka, yonwabeleni ixesha elichithwa lusapho lwenu kunye. Yibani nothando kwaye nixhasane. Zamani ukuqokelela iinkumbulo ezintle eningasoze nizilibale. Musa ukuzama ukuhamba olu hambo wedwa, baninzi abantu abanokukunceda.

Isifo sikaMiller -Dieker, i-lissencephaly, uphuhliso lobuchopho, izifo zemfuza, i-chromosome 17, impilo yabantwana, ukulibaziseka kophuhliso