Ingaba umntwana wakho unengxaki yokukhula kwengqondo? Masithethe ngeJoubert Syndrome

Uhlala ucinga ngempilo yomntwana wakho omncinci, akunjalo? Ngamanye amaxesha, iintsana zinokuba neemeko zempilo ezingaqhelekanga. Esinye sezimo ezinjalo yiJoubert Syndrome. Usenokuziva ungaqhelekanga xa usiva eli gama, kodwa masithethe ngalo ngokulula. Esi sisifo esibangelwa zizinto zemfuza kwaye sichaphazela uphuhliso lwengqondo yomntwana.

Yintoni iJoubert Syndrome? Ngamafutshane...

I-Joubert syndrome yimeko engaqhelekanga kakhulu yemfuza . Yenzeka xa inxalenye yengqondo yomntwana ingakhuli kakuhle ngexesha lokukhula komntwana ongekazalwa, oko kukuthi, esesesibelekweni sikamama. Cinga ngayo, ingqondo yethu ifana nomatshini ontsonkothileyo kakhulu. Ngamacandelo ahlukeneyo ayo alawula zonke izenzo zethu ngokusebenzisana. Ngoko ke, kule meko , uphuhliso lwe-cerebellum kunye ne-brainstem luchaphazeleka kakhulu.

Kukho iintlobo ngeentlobo zesi sifo, ngoko ke iimpawu zingahluka kumntwana ngamnye. Nangona kunjalo, iimpawu eziqhelekileyo ziquka iingxaki zokulawula izihlunu, utshintsho kwithoni yezihlunu, ubunzima bokuphefumla, kunye neengxaki zokunyakaza kwamehlo.

Ehlabathini lonke, malunga nosana olunye kwi-100,000 luzalwa lunesi sifo. Ngokuqhelekileyo, oku kungenxa yotshintsho lwemfuza olufunyenwe kubazali. Kodwa ngamanye amaxesha, esi sifo sinokwenzeka ngamaxesha athile ngaphandle kwesizathu esicacileyo.

Zithini iimpawu zeJoubert syndrome?

Umntwana one-Joubert syndrome unokubonisa iimpawu ezahlukeneyo. Ezi mpawu zinokutshintsha njengoko umntwana ekhula. Iimpawu eziphambili ziquka utshintsho emzimbeni, iingxaki zamehlo, kunye neengxaki zesibindi nezintso.

Iingxaki ezinxulumene nenkqubo yemithambo-luvo:

Umntwana wakho usenokuba neengxaki okanye iimeko ezinxulumene nenkqubo yemithambo-luvo ezifana nezi:

• Ithoni yemisipha ephantsi (iHypotonia): Kulapho izihlunu zomzimba womntwana zikhululeka kakhulu. Kamva, oku kunokuba yingxaki yokulungelelaniswa kwezihlunu (i-ataxia) . Oku kuthetha ukuba kuba nzima ukuhamba okanye ukubamba izinto.
• Iingxaki zamehlo: Umzekelo, ungabona iintshukumo zamehlo ezikhawulezayo ngendlela engaqhelekanga (nystagmus) okanye istrabismus (amehlo ajika kwicala elahlukileyo).
• Iingxaki zokuphefumla: Ezi zinokubandakanya ukuphefumla okukhawulezileyo, okunganzulu (i-tachypnea) okanye ukuphumla ekuphefumleni (i-apnea) . Ezi zixhaphake kakhulu kwiintsana ezincinci.
• Ukulibaziseka kokukhula: Umntwana usenokufika emva kwexesha kwizinto ezifana nokuthetha, ukuhamba, nokudlala ezifanelekileyo kwiminyaka yakhe.
• Ukukhubazeka kwengqondo: Abanye abantwana banokuba nobuthathaka kwizinto ezifana nokukwazi ukufunda nokuqonda.

Utshintsho lomzimba:

Ezinye iimpawu ezikhethekileyo zinokubonwa kwinkangeleko yabantwana abanale meko:

• Umlomo oqhekekileyo kunye/okanye incakuba eqhekekileyo .
• Iimpawu ezithile zobuso: Umzekelo, ibunzi elibanzi, iinkophe ezigobileyo (`ptosis`) , umgama obanzi kunoqhelekileyo phakathi kwamehlo. Iindlebe zisenokubekwa ngaphantsi kunesiqhelo, kwaye umlomo unokuba nomqolo onxantathu kunye nomlomo ophezulu ujonge phezulu embindini.
• Ukuba neminwe eyongezelelweyo (i-Polydactyly) (ezandleni okanye ezinyaweni).
• Ulwimi oluphumayo .

Ezinye iimeko zonyango:

Njengoko umntwana ekhula, iingxaki ze-retina (inxalenye yeliso eguqula ukukhanya kube yimifanekiso), izintso, nesibindi zinokuvela. Umzekelo, i-Leber's congenital amaurosis (imeko embi yokubona), isifo sezintso esine-polycystic , okanye ukungasebenzi kakuhle kwesibindi kunokuvela.

Kutheni kukho iJoubert syndrome? Zithini izizathu?

Eyona nto ibangela iJoubert syndrome kukutshintsha kwezakhi zofuzo, ezibizwa ngokuba zii-mutations . Le meko inokubangelwa zii-mutations kwiizakhi zofuzo ezahlukeneyo ezingaphezu kwama-35 ezinegalelo ekuphuhlisweni kwengqondo.

Uninzi lwexesha, ezi nguqu zemfuza zizuzwa njengelifa ngendlela ye-autosomal recessive . Ngamafutshane, umntwana uya kuba nesi sifo ukuba ufumana i-gene eguquliweyo kumama nakutata wakhe.

Nangona kunjalo, olunye lwezi nguqu lunokufunyanwa njenge -'X-linked' mutation . Oku kuthetha ukuba i-gene mutation ikwi-X chromosome. I-X chromosome inokudluliselwa kumntwana nokuba yi-dominant mutation okanye njenge-recessive mutation. Nangona kunjalo, akusoloko kucacile ukuba umntwana ukufumene njani kubazali bakhe.

Olu tshintsho lwemfuza lubangela ukungaqheleki kwezi ndawo zilandelayo zengqondo yomntwana:

• I-Cerebellum: Kulapho silawula khona ukulungelelana kwethu kunye nokuhamba kwethu. Kwi-Joubert syndrome, i-cerebellar vermis, inxalenye ye-cerebellum, isenokungabikho okanye incinci kunesiqhelo.
• I-Brainstem: Oku kulawula ukuphefumla kunye nokulinganisela. Oku nako akuphuhli kakuhle. Kwi-imaging scans, le vermis engaqhelekanga ye-cerebellar kunye ne-brainstem zibukeka njengezinyo. Oogqirha bakubiza oku ngokuthi luphawu lwezinyo le-molar . Ukuqonda olu phawu yenye yeendlela zokufumanisa i-Joubert syndrome.
• I-Cilia:Ezi zizakhiwo ezincinci eziphuma kumphezulu weeseli, njengee-antenna eziphuma eluphahleni lwesakhiwo. Ezi cilia, ezifumaneka kwiiseli zobuchopho, zinceda amalungu ukuba anxibelelane njengoko ekhula. Abaphandi bakholelwa ukuba utshintsho lwezakhi zofuzo oluchaphazela ezi cilia lubangela iingxaki zamehlo, izintso, kunye nesibindi ezinazo abantu abane-Joubert syndrome.

Olu tshintsho lwemfuza lubachaphazela njani abanye abantu kusapho?

Kuxhomekeke kwizinto ezifana nohlobo lotshintsho lwemfuza kunye nesini.

• I-Autosomal recessive inheritance: Umntakwabo womntwana one-Joubert syndrome unethuba elingama-25% lokuba nale meko. Kukho ithuba elingama-50% lokuba ngumthwali we-gene mutation ngaphandle kweempawu. Kukho ithuba elingama-25% lokuba angabi na-gene mutation okanye iimpawu.
• Ilifa elidityaniswe ne-X: Umntwana oyinkwenkwe unethuba elingama-50% lokuba nale meko. Kodwa ukuba akanazimpawu, akangomntu onayo. Umntwana oyintombazana unethuba elingama-25% lokuba nale meko. Kukho ithuba elingama-50% lokuba ngumnini we-gene mutation ngaphandle kokuba neempawu.

Ifunyanwa njani iJoubert syndrome?

Oogqirha baxilonga isifo sikaJoubert ngokusekwe kwiimpawu zomntwana kunye novavanyo lomfanekiso. Iindlela zokuchonga esi sifo zezi:

• 'Uphawu lwezinyo le-molar' lubonakala kwi -MRI (Magnetic Resonance Imaging) scan yobuchopho.
• Iimpawu zemisipha esezantsi (iHypotonia) .
• Ukulibaziseka kophuhliso .

Oogqirha banokuyalela uvavanyo lwemfuza ukuqinisekisa ukuxilongwa kunye nokucwangcisa unyango. Izifundo zibonise ukuba phakathi kwama-62% nama-94% abantwana abane-Joubert syndrome banenye yeendlela zokuguqula imfuza ezibangela esi sifo. Ukuchonga indlela echanekileyo yokuguqula imfuza kunokunceda oogqirha baqikelele iingxaki zempilo zexesha elizayo baze bazinyange kwangethuba.

"Uphawu lwezinyo le-molar kwi-MRI yobuchopho lubaluleke kakhulu ekuxilongeni i-Joubert syndrome. Uvavanyo lwe-genetic lukwanceda kakhulu ekuqinisekiseni isifo kunye nokuceba unyango lwexesha elizayo."

Ngaba oku kungafunyanwa ngovavanyo lwangaphambi kokukhulelwa?

Kunokwenzeka, kodwa akunjalo ngamaxesha onke. Utshintsho kwi-brainstem ye-fetal okanye kwi-cerebellum ngamanye amaxesha lunokubonwa kwi-MRI yokukhulelwa . Nangona kunjalo, ezinye iingxaki kwingqondo ye-fetal zisenokungabonakali kwi-MRI scan.

Ziziphi iindlela zonyango lwe-Joubert syndrome?

Unyango luyahluka kumntwana ngamnye. Luxhomekeke kwizinto ezifana nohlobo lwesifo kunye nendlela esichaphazela ngayo umntwana. Umzekelo:

• Ukuba umntwana wakho unengxaki yokuphefumla, unokunikwa uncedo olufana neoksijini eyongezelelweyo okanye umoya ophumayo ngomatshini .
• Abantwana bayo yonke iminyaka abanengxaki yokulibaziseka kokukhula banokufumana unyango lomzimba , unyango lokuthetha nolwimi, kunye nonyango lomsebenzi . Oku kunokunceda ukwenza imisebenzi yemihla ngemihla ibe lula kumntwana.
• Umntwana onemeko yamehlo efana ne -strabismus angatyandwa ngenxa yayo (utyando lwe-strabismus) .

Ngokuxhomekeke kwindlela iJoubert syndrome echaphazela ngayo umntwana wakho, unokufuna ukubona iingcali rhoqo ukuze zixilonge, zibeke esweni, kwaye zinyange iimeko ezifana nesifo sezintso, iingxaki zamehlo, kunye neengxaki zenkqubo yemithambo-luvo.

Ukuba umntwana wam une-Joubert syndrome, ndimele ndilindele ntoni?

Ikamva leentsana nabantwana abane-Joubert syndrome lixhomekeke kwizinto ezininzi. Ngokukodwa, utshintsho oluthile lwemfuza oluchaphazela umntwana lubalulekile. Ngokubanzi, abantwana abane-Joubert syndrome baya kufuna unyango lobomi bonke kunye nenkxaso yolunye uhlobo. Ugqirha womntwana wakho ngumntu ongcono ukukunika ulwazi malunga noku.

Ingakanani iminyaka yobomi bomntwana ozelwe ene-Joubert syndrome?

I-Joubert syndrome inokuba yingozi ebuntwaneni. Nangona kunjalo, abanye abantu abanale meko baphila baze babe ngabantu abadala. Abaphandi basafunda ngobomi obulindelekileyo bale meko ingaqhelekanga. Kwakhona, imeko yomntwana wakho yahlukile, oko kuthetha ukuba indlela esi sifo esimchaphazela ngayo yahlukile. Kungokwemvelo ukufuna ukwazi ukuba umntwana wakho uza kuphila ixesha elingakanani. Iqela lezonyango lomntwana wakho ngowona mthombo ubalaseleyo wolwazi malunga noku.

Ndingayithintela na iJoubert syndrome?

Ngelishwa, akukho ndlela yokuthintela iJoubert syndrome. Nangona kunjalo, iingcali zemfuza kunye nabacebisi bemfuza banokukunceda ubone ukuba umntu othile kusapho lwakho usemngciphekweni. Olu lwazi lunokunceda abantu bagqibe, umzekelo, ukuba bangaba nabantwana okanye bangabafumani.

Umntwana wam ufanele aye nini kugqirha?

Iimpawu zesifo sikaJoubert zinokutshintsha ubomi bomntwana wakho. Ngoko ke, kubalulekile ukumsa umntwana wakho kuhlolo lonyaka . Ugqirha angajonga oku kulandelayo:

• Ukukhula nophuhliso lomntwana.
• Amehlo.
• Umsebenzi wesibindi kunye nezintso.

Umntwana wakho uza kuhlolwa rhoqo ngemithambo-luvo kunye novavanyo lokukhula kwakhe.Kusenokufuneka unyamekeleke ngokukodwa ukuze unyange iingxaki zamehlo, izifo zezintso, okanye izifo zesibindi.

Ndingazinyamekela njani mna nosapho lwam?

I-Joubert syndrome inokwenza umahluko omkhulu kubomi bentsapho. Inokuba yingxaki enkulu kuye wonke umntu othanda kwaye ekhathalela umntwana onesi sifo. Ukuba unomntwana one-Joubert syndrome, ezi ngcinga zinokukunceda:

• Amaqela enkxaso: I-Joubert syndrome yimeko engaqhelekanga. Usenokuvakalelwa kukuba usapho lwakho lodwa olujongene nale mingeni. Ngokujoyina iqela lenkxaso, unokunxibelelana nabanye abazali, abanakekeli, kunye neentsapho ezijongene nemingeni efanayo.
• Ingcebiso: Ukuthetha nogqirha wengqondo okanye omnye umntu osebenza ngempilo yengqondo kunokukunceda wena nosapho lwakho nilawule uxinzelelo, ixhala, kunye nezinye iimvakalelo ezihambisana noku.
• Yiba nomdla: I-Joubert syndrome ibangelwa zizinto ezingaphaya kwamandla akho, ngoko ke ungaziva ungenakunceda. Ukuba kunjalo, cinga ngokusebenza nemibutho exhasa iinkqubo kunye nophando olufana nolu.

Yeyiphi imibuzo endifanele ndiyibuze ugqirha womntwana wam?

Usenokuba nemibuzo emininzi malunga neemfuno zangoku kunye nekamva lomntwana wakho. Nazi ezinye iingcebiso:

• Luhlobo luni lokukhubazeka esifanele silulindele?
• Ngabaphi abantu abangoochwephesha esifanele sibabone?
• Sifanele sidibane nabo kangaphi?
• Ngaba umntwana wam uza kufuna utyando?
• Iza kuba njani iminyaka yobomi bomntwana wethu?
• Ngaba amanye amalungu osapho kufuneka avavanywe ngokwemfuza?

Ukufumanisa ukuba umntwana wakho une-Joubert syndrome kunokuba yinto eyoyikisayo kakhulu. Yimeko engaqhelekanga le, ngoko usenokungazi nto ingako ngayo. Usenokuziva ngathi ufike ngequbuliso kwilizwe ongalaziyo kwaye ulahlekile ungenayo imaphu okanye ikhampasi yokufumana indlela yakho.

Oogqirha bomntwana wakho bayaqonda ukuba uza kuba nemibuzo emininzi kunye neenkxalabo ngeli xesha lohambo olungaziwayo. Ungaze ungathandabuzi ukucela ulwazi kunye noncedo. Umzekelo, i-Joubert syndrome inokubangela iingxaki ezininzi zempilo ezineempawu ezahlukeneyo. Kwakhona, iingxaki ezintsha zinokuvela njengoko umntwana wakho ekhula.

Abantwana abaninzi abanale meko baya kufuna unyango kunye nenkxaso ubomi babo bonke. Iqela lezonyango lomntwana wakho liya kuba lapho ukukuxhasa wena nomntwana wakho kule ndlela ungayaziyo.

Umyalezo Wokuya Ekhaya

I-Joubert syndrome yimeko enzima, kodwa khumbula, awuwedwa.

• Fumana ulwazi oluchanekileyo: Buza iqela lakho lezonyango ngayo yonke into ekufuneka uyazi.
• Kubalulekile ukujonga rhoqo impilo yomntwana wakho: Soloko ujonga ukukhula kwakhe nempilo yakhe.
• Jonga unyango lonyango:Izinto ezifana nonyango lomzimba kunye nonyango lokuthetha ziluncedo kakhulu ekuphuhliseni izakhono zomntwana.
• Hlala uqinile: Njengomzali, ukuhlala uqinile ngamandla amakhulu kumntwana wakho. Funa ingcebiso ukuba kuyimfuneko.
• Joyina amaqela enkxaso: Amava abanye abantu aya kukuqinisa.

Nangona olu hambo lunzima, ngenkxaso kunye nonyango olufanelekileyo, ungamnceda umntwana wakho aphile ubomi obungcono kangangoko.

Isifo sikaJoubert , izifo zemfuza, uphuhliso lobuchopho, izifo zabantwana, i-hypotonia, i-ataxia, uphawu lwamazinyo e-molar