Ingabe ingane yakho inenkinga yokukhula kobuchopho? Ake sixoxe nge-Joubert Syndrome

Uhlala ucabanga ngempilo yengane yakho, akunjalo? Ngezinye izikhathi, izingane zingaba nezinkinga zempilo ezingavamile. Esinye sezimo ezinjalo yi-Joubert Syndrome. Ungase uzizwe ungajwayelekile uma uzwa leli gama, kodwa ake sixoxe ngakho kalula. Lesi yisimo esibangelwa izici zofuzo futhi sithinta ukukhula kobuchopho bomntwana.

Iyini i-Joubert Syndrome? Kalula nje...

I-Joubert syndrome iyisimo esingavamile kakhulu sofuzo . Senzeka lapho ingxenye yobuchopho bomntwana ingakhuli kahle ngesikhathi sokukhula komntwana, okungukuthi, isesesibelethweni sikamama. Cabanga ngakho, ubuchopho bethu bufana nomshini oyinkimbinkimbi kakhulu. Yizingxenye ezahlukene zawo ezilawula zonke izenzo zethu ngokusebenzisana. Ngakho-ke, kulesi simo , ukuthuthukiswa kwe-cerebellum kanye ne-brainstem kuthinteka kakhulu.

Kunezinhlobo ezahlukene zalesi sifo, ngakho-ke izimpawu zingahluka kuye ngengane. Kodwa-ke, izimpawu ezivame kakhulu zifaka phakathi izinkinga zokulawula imisipha, izinguquko ethonini lemisipha, ubunzima bokuphefumula, kanye nezinkinga zokunyakaza kwamehlo.

Emhlabeni wonke, cishe ingane eyodwa kweziyi-100,000 izalwa inalesi simo. Ngokuvamile, lokhu kungenxa yokuguqulwa kwezakhi zofuzo okuzuzwe kubazali. Kodwa ngezinye izikhathi, lesi simo singavela ngezikhathi ezithile ngaphandle kwesizathu esibonakalayo.

Ziyini izimpawu ze-Joubert syndrome?

Ingane ene-Joubert syndrome ingabonisa izimpawu ezahlukahlukene. Lezi zimpawu zingashintsha njengoba ingane ikhula. Izimpawu eziyinhloko zifaka phakathi izinguquko zomzimba, izinkinga zamehlo, kanye nezinkinga zesibindi nezinso.

Izinkinga ezihlobene nohlelo lwezinzwa:

Ingane yakho ingaba nezinkinga noma izimo ezihlobene nesimiso sezinzwa ezifana nalezi:

• Imisipha ephansi (i-Hypotonia): Yilapho imisipha emzimbeni wengane ikhululeka kakhulu. Kamuva, lokhu kungaba yizinkinga ngokuxhumana kwemisipha (i-ataxia) . Lokhu kusho ukuthi kuba nzima ukuhamba noma ukubamba izinto.
• Izinkinga zamehlo: Isibonelo, ungase uqaphele ukunyakaza kwamehlo okusheshayo okungajwayelekile (i-nystagmus) noma i-strabismus (amehlo ajika ngezindlela ezahlukene).
• Izinkinga zokuphefumula: Lokhu kungafaka ukuphefumula okusheshayo, okungajulile (i-tachypnea) noma ukuphumula kokuphefumula (i-apnea) . Lokhu kuvame kakhulu ezinganeni ezincane.
• Ukulibaziseka kokukhula: Ingane ingase iphuze ezintweni ezifana nokukhuluma, ukuhamba, nokudlala ezifanele iminyaka yayo.
• Ukukhubazeka kwengqondo: Ezinye izingane zingase zibe nobuthakathaka obuthile ezintweni ezifana nekhono lokufunda nokuqonda.

Izinguquko zomzimba:

Ezinye izici ezikhethekile zingabonakala ekubukekeni kwezingane ezinalesi simo:

• Umlomo oqhekekile kanye/noma ulwanga oluqhekekile .
• Izici ezithile zobuso: Isibonelo, ibunzi elibanzi, amajwabu amehlo alengayo (`ptosis`) , ibanga elibanzi kunelivamile phakathi kwamehlo. Izindlebe zingase zibe ngaphansi kunejwayelekile, futhi umlomo ungase ube nesimo esingunxantathu kanti udebe oluphezulu lubheke phezulu phakathi.
• Ukuba neminwe eyengeziwe (i-Polydactyly) (ezandleni noma ezinyaweni).
• Ulimi oluphumayo .

Ezinye izimo zezokwelapha:

Njengoba ingane ikhula, izinkinga nge-retina (ingxenye yeso eguqula ukukhanya kube izithombe), izinso, nesibindi zingakhula. Isibonelo, i-Leber's congenital amaurosis (isimo esibucayi sokubona), isifo sezinso se-polycystic , noma ukwehluleka kwesibindi kungakhula.

Kungani kwenzeka i-Joubert syndrome? Ziyini izimbangela?

Imbangela eyinhloko ye-Joubert syndrome izinguquko ezakhiweni zofuzo, ezibizwa ngokuthi izinguquko . Lesi simo singabangelwa izinguquko ezakhiweni zofuzo ezingaphezu kuka-35 ezahlukene ezifaka isandla ekukhuleni kobuchopho.

Esikhathini esiningi, lezi zinguquko zezakhi zofuzo zizuzwa njengefa ngendlela yokubuyisa i-autosomal . Kalula nje, ingane izoqala ukuba nalesi sifo uma izuza i-gene eguquliwe kunina nakuyise.

Kodwa-ke, enye yalezi zinguquko ingazuzwa njenge -'X-linked' mutation . Lokhu kusho ukuthi ukuguqulwa kwezakhi zofuzo ku-X chromosome. Ukuguqulwa kwezakhi zofuzo ku-X chromosome kungadluliselwa enganeni kungaba njengokuguqulwa okunamandla noma njengokuguqulwa okuphindaphindekile. Kodwa-ke, akucaci ngaso sonke isikhathi ukuthi ingane yakuthola kanjani kubazali.

Lezi zinguquko zofuzo zibangela ukukhubazeka ezingxenyeni ezilandelayo zobuchopho bengane:

• I-Cerebellum: Yilapho silawula khona ukuhambisana kwethu kanye nokunyakaza. Ku-Joubert syndrome, i-cerebellar vermis, ingxenye ye-cerebellum, ingase ingabi khona noma ibe yincane kunokujwayelekile.
• I-Brainstem: Lokhu kulawula ukuphefumula nokulinganisela. Lokhu futhi akukhuli kahle. Ezikrinini zezithombe, le vermis engavamile ye-cerebellar kanye ne-brainstem ibukeka njengezinyo. Odokotela bakubiza lokhu ngokuthi uphawu lwezinyo le-molar . Ukuqaphela lolu phawu kuyindlela eyodwa yokuthola i-Joubert syndrome.
• I-Cilia:Lezi yizakhiwo ezincane eziphuma ebusweni bamaseli, njenge-antenna eziphuma ophahleni lwesakhiwo. Lezi cilia, ezitholakala emangqamuzaneni obuchopho, zisiza izitho ukuthi zikhulumisane njengoba zikhula. Abacwaningi bakholelwa ukuthi ukuguquka kwezakhi zofuzo okuthinta lezi cilia kuyimbangela yezinkinga zamehlo, izinso, nezesibindi abantu abane-Joubert syndrome abanazo.

Lezi zinguquko zezakhi zofuzo ziwuthinta kanjani wonke umndeni?

Kuncike ezintweni ezifana nohlobo lokuguquka kwezakhi zofuzo kanye nobulili.

• Ifa le-Autosomal recessive: Umfowabo wengane ene-Joubert syndrome unethuba elingu-25% lokuba nalesi simo. Kunethuba elingu-50% lokuba ngumthwali wokuguqulwa kwezakhi zofuzo ngaphandle kwezimpawu. Kunethuba elingu-25% lokuba angabi nakuguquka kwezakhi zofuzo noma izimpawu.
• Ifa elixhumene no-X: Ingane yesilisa inethuba elingu-50% lokuba nalesi simo. Kodwa uma ingenazo izimpawu, ayiyona ethwala lesi sifo. Ingane yesifazane inethuba elingu-25% lokuba nalesi sifo. Kunethuba elingu-50% lokuba ethwala lesi shintsho sezakhi zofuzo ngaphandle kokuba nezimpawu.

I-Joubert syndrome itholakala kanjani?

Odokotela baxilonga i-Joubert syndrome ngokusekelwe ezimpawini zengane kanye nokuhlolwa kwezithombe. Izindlela zokuxilonga lesi simo yilezi:

• 'Uphawu lwezinyo le-molar' lubonakala ku -MRI (Magnetic Resonance Imaging) scan yobuchopho.
• Izimpawu zokuqina kwemisipha (i-Hypotonia) .
• Ukulibaziseka kokukhula .

Odokotela bangase futhi bacele ukuhlolwa kwezakhi zofuzo ukuqinisekisa ukuxilongwa nokuhlela ukwelashwa. Izifundo zibonise ukuthi phakathi kuka-62% no-94% wezingane ezine-Joubert syndrome zinezinye zezinguquko zezakhi zofuzo ezibangela lokhu. Ukuhlonza ukuguquka kwezakhi zofuzo okuqondile kungasiza odokotela ukubikezela izinkinga zempilo zesikhathi esizayo futhi bazelaphe kusenesikhathi.

"Uphawu lwezinyo le-molar" ku-MRI yobuchopho lubaluleke kakhulu ekuxilongweni kwe-Joubert syndrome. Ukuhlolwa kofuzo nakho kuyasiza kakhulu ekuqinisekiseni lesi sifo nokuhlela ukwelashwa kwesikhathi esizayo."

Ingabe lokhu kungatholakala ngokuhlolwa kokukhulelwa?

Kungenzeka, kodwa hhayi njalo. Izinguquko ku-brainstem yengane noma ku-cerebellum ngezinye izikhathi zingabonakala ku-MRI yokukhulelwa . Kodwa-ke, ezinye izinkinga ebuchosheni bengane zingase zingabonwa ku-scan ye-MRI.

Yiziphi izindlela zokwelapha i-Joubert syndrome?

Ukwelashwa kuyahlukahluka kuye ngengane. Kuncike ezicini ezifana nohlobo lwesifo kanye nendlela esithinta ngayo ingane. Isibonelo:

• Uma ingane yakho inenkinga yokuphefumula, ukunakekelwa okusekelayo okufana nomoya-mpilo owengeziwe noma umoya-mpilo womshini kunganikezwa.
• Izingane zabo bonke ubudala ezinokukhubazeka kokukhula zingathola ukwelashwa ngokomzimba , ukwelashwa ngenkulumo nolimi, kanye nokwelashwa ngokomsebenzi . Lokhu kungasiza ekwenzeni imisebenzi yansuku zonke ibe lula enganeni.
• Ingane enesifo samehlo esifana ne -strabismus ingahlinzwa ngenxa yaso (ukuhlinzwa kwe-strabismus) .

Kuye ngokuthi i-Joubert syndrome iyithinta kanjani ingane yakho, kungadingeka ukuthi ubonane nochwepheshe njalo ukuze baxilonge, baqaphe, futhi belaphe izimo ezifana nesifo sezinso, izinkinga zamehlo, nezinkinga zesimiso sezinzwa.

Uma ingane yami ine-Joubert syndrome, yini okufanele ngiyilindele?

Ikusasa lezinsana nezingane ezine-Joubert syndrome lincike ezintweni eziningana. Ikakhulukazi, ukuguquka kwezakhi zofuzo okuqondile okuthinta ingane kubalulekile. Ngokuvamile, izingane ezine-Joubert syndrome zizodinga ukunakekelwa kwezokwelapha impilo yonke kanye nokusekelwa okunye. Udokotela wengane yakho ungumuntu ongcono kakhulu ukukunikeza ulwazi ngalokhu.

Ingakanani iminyaka yokuphila kwengane ezelwe ne-Joubert syndrome?

I-Joubert syndrome ingaba yingozi ebuntwaneni. Kodwa-ke, abanye abantu abanalesi simo baphila baze babe ngabantu abadala. Abacwaningi basafunda ngobude bempilo yalesi simo esingavamile. Futhi, isimo sengane yakho sihlukile, okusho ukuthi indlela lesi sifo esibathinta ngayo ihlukile. Kungokwemvelo ukufuna ukwazi ukuthi ingane yakho izophila isikhathi esingakanani. Ithimba lezokwelapha lengane yakho lingumthombo ongcono kakhulu wolwazi ngalokhu.

Ngingakwazi yini ukuvimbela i-Joubert syndrome?

Ngeshwa, ayikho indlela yokuvimbela i-Joubert syndrome. Kodwa-ke, izazi zezakhi zofuzo kanye nabeluleki bezakhi zofuzo bangasiza ekunqumeni ukuthi othile emndenini wakho usengozini yini. Lolo lwazi lungasiza abantu ukuthi banqume, isibonelo, ukuthi bazoba nabantwana noma cha.

Ingane yami kufanele ibone nini udokotela?

Izimpawu ze-Joubert syndrome zingashintsha impilo yengane yakho yonke. Ngakho-ke, kubalulekile ukuyisa ingane yakho ekuhlolweni minyaka yonke . Udokotela angahlola okulandelayo:

• Ukukhula nokuthuthukiswa kwengane.
• Ukubona kwamehlo.
• Umsebenzi wesibindi nezinso.

Ingane yakho izohlolwa njalo ngezinzwa kanye nokuhlolwa kokukhula kwayo.Kungadingeka futhi ukuthi unakekelwe ngokukhethekile ukuze welaphe izinkinga zamehlo, izifo zezinso, noma izifo zesibindi.

Ngizinakekela kanjani mina nomndeni wami?

I-Joubert syndrome ingenza umehluko omkhulu empilweni yomndeni. Kungaba yinto ecindezelayo kakhulu kuwo wonke umuntu othanda futhi onakekela ingane enalesi simo. Uma unengane ene-Joubert syndrome, le mibono ingasiza:

• Amaqembu okusekela: I-Joubert syndrome iyisimo esingavamile. Ungase uzizwe sengathi umndeni wakho uwukuphela kwalabo ababhekene nalezi zinselele. Ngokujoyina iqembu lokusekela, ungaxhumana nabanye abazali, abanakekeli, kanye nemindeni ebhekene nezinselele ezifanayo.
• Ukwelulekwa: Ukukhuluma nodokotela wezifo zengqondo noma omunye uchwepheshe wezempilo yengqondo kungakusiza wena nomndeni wakho ukuthi nilawule ukucindezeleka, ukukhathazeka, kanye neminye imizwa ehambisana nalokhu.
• Yiba Nomzimba Osebenzayo: I-Joubert syndrome ibangelwa yizinto ezingaphezu kwamandla akho, ngakho-ke ungase uzizwe ungenamandla. Uma kunjalo, cabanga ngokusebenza nezinhlangano ezisekela izinhlelo nocwaningo olufana nalolu.

Yimiphi imibuzo okufanele ngiyibuze udokotela wengane yami?

Ungase ube nemibuzo eminingi mayelana nezidingo zamanje zengane yakho kanye nekusasa layo. Nazi ezinye iziphakamiso:

• Hlobo luni lokukhubazeka okufanele silulindele?
• Hlobo luni lochwepheshe okufanele sibabone?
• Kufanele sihlangane nabo kangaki?
• Ingabe ingane yami izodinga ukuhlinzwa?
• Impilo yengane yethu izohlala kanjani?
• Ingabe amanye amalungu omndeni kufanele ahlolwe izakhi zofuzo?

Ukuthola ukuthi ingane yakho ine-Joubert syndrome kungaba yinto eshaqisayo kakhulu. Kuyisimo esingavamile, ngakho-ke ungase ungazi okuningi ngaso. Ungase uzizwe sengathi ufike ngokuzumayo ezweni ongalazi futhi ulahlekile ngaphandle kwemephu noma ikhampasi yokuthola indlela yakho.

Odokotela bengane yakho bayaqonda ukuthi uzoba nemibuzo eminingi nokukhathazeka phakathi nalolu hambo olungajwayelekile. Ungalokothi unqikaze ukucela ulwazi nosizo. Isibonelo, i-Joubert syndrome ingabangela izinkinga eziningi zempilo ezinezimpawu ezahlukene. Futhi, kungase kuvele izinkinga ezintsha njengoba ingane yakho ikhula.

Izingane eziningi ezinalesi simo zizodinga ukunakekelwa kwezokwelapha kanye nokusekelwa impilo yonke. Ithimba lezokwelapha lengane yakho lizobe likhona ukuze likusekele wena nengane yakho kule ndlela ongayijwayele.

Umlayezo Wokuya Nawe Ekhaya

I-Joubert syndrome iyisimo esiyinselele, kodwa khumbula, awuwedwa.

• Thola ulwazi olunembile: Buza ithimba lakho lezokwelapha ngakho konke okudingeka ukwazi.
• Ukuqapha njalo kwezokwelapha kubalulekile: Njalo qapha ukukhula nempilo yengane yakho.
• Bheka izindlela zokwelapha:Izinto ezifana nokwelashwa ngokomzimba kanye nokwelashwa ngenkulumo ziwusizo kakhulu ekuthuthukiseni amakhono engane.
• Hlala uqinile: Njengomzali, ukuhlala uqinile kungamandla amakhulu enganeni yakho. Funa iseluleko uma kudingeka.
• Joyina amaqembu okusekelana: Okuhlangenwe nakho kwabanye kuzokuqinisa.

Nakuba lolu hambo lunzima, ngokusekelwa kanye nokwelashwa okufanele, ungasiza ingane yakho iphile impilo engcono kakhulu.

I- Joubert syndrome, izifo zofuzo, ukukhula kobuchopho, izifo zezingane, i-hypotonia, i-ataxia, uphawu lwamazinyo e-molar