Uke ube nombuzo noma ukukhathazeka okuncane mayelana nokukhula noma ukuziphatha kwengane yakho? Ngezinye izikhathi siyesaba lapho odokotela bekhuluma ngamagama nezifo ezintsha, akunjalo? Namuhla sizokhuluma ngesimo esingavamile sofuzo okungenzeka ukuthi awukaze uzwe ngaso, kodwa kubaluleke kakhulu ukusazi. Sibizwa ngokuthi i-Pitt-Hopkins Syndrome (PTHS).
Iyini ngempela i-Pitt-Hopkins Syndrome (PTHS)?
Kalula nje, lesi yisimo
sofuzo . Okusho ukuthi, sibangelwa ushintsho kumajini emzimbeni wethu, afana nesethi yemiyalelo emincane elawula konke emzimbeni wethu. Lokhu kuthinta kakhulu
ukukhula kobuchopho bomntwana kanye nesimiso sezinzwa . Ngakho-ke, ngenxa yalokhu, ukukhula okujwayelekile komntwana kungabambezeleka, ukukhubazeka kwengqondo kungabonakala. Ngaphezu kwalokho, laba bantwana bangase babe
nezinguquko ezithile esimweni sobuso babo . Kungase kudingeke babhekane nezimo ezifana
nobunzima bokuphefumula kanye nokuxhuzula .
Ingabe lokhu kuyingxenye yesimo se-autism?
Abantu abaningi bangase bacabange ukuthi lesi yisimo esifana ne-autism spectrum disorder. I-Pitt-Hopkins syndrome
akuyona i-autism empeleni . Kodwa-ke, izingane ezinalesi simo zingase zibonise
ezinye zezimpawu ezifanayo nezezingane ezine-autism. Ngakho-ke, ngezinye izikhathi abazali nodokotela bangadideka kancane. Kodwa kudingeka siqonde ukuthi lezi yizimo ezimbili ezihlukene.
Ubani othola lesi simo? Sivame kangakanani?
I-Pitt-Hopkins Syndrome (PTHS)
ingathinta noma ubani . Izimpawu zivame ukuqala ukubonakala
ebuntwaneni . Kodwa-ke, into ebaluleke kakhulu okudingeka uyazi ukuthi lesi
yisifo esingavamile kakhulu esibangelwa izakhi zofuzo . Cabanga nje,
abantu abangaba ngu-500 kuphela emhlabeni wonke abatholakale benalesi simo. Ngakho-ke, lesi yisimo esingavamile kakhulu.
Lokhu kuzoyithinta kanjani ingane yami?
Ngaphezu kwezimpawu zomzimba, ingane enalesi simo ingase ibhekane neminye imiphumela eminingana. Ngokuyinhloko:
- Ukulibaziseka kokukhula: Izingane zingase zephuze ukwenza izinto ezifanele ubudala, njengokugingqika, ukuhlala phansi, nokuhamba. Ingabe uzizwa sengathi ingane yakho iyephuza ukumamatheka, ukwenza imisindo, noma ukuqaphela unina njengezinye izingane? Lokhu kubizwa ngokuthi ukulibaziseka kokukhula.
- Ukungakwazi ukukhuluma noma ukukhula kolimi okulinganiselwe: Ezinye izingane zingase zingakwazi ukukhuluma amagama, noma zingase zibe namagama ambalwa kakhulu. Zingase zikwazi ukwenza imisindo kuphela.
- Ukukhubazeka kwengqondo: Kungase kube nokukhubazeka okuthile ekhonweni lokuqonda nokufunda. Kungase kubonakale sengathi kuthatha isikhathi ukufunda into entsha.
- Amakhono okuxhumana nabantu alinganiselwe: Kungase kube nokuncipha kwesithakazelo kanye nekhono lokudlala nokukhuluma nabanye. Kungase kube nokukhetha ukuba wedwa.
Ziyini izimpawu ze-Pitt-Hopkins syndrome (PTHS)?
Njengoba kushiwo ngaphambili, lesi simo sithinta intuthuko yengane. Izimpawu eziyinhloko
ukubambezeleka kokufunda ukuhamba ,
ubunzima ekukhulumeni nasekukhulumeni . Ngaphezu kwalokho, izingane ezine-Pitt-Hopkins syndrome zingase zibe
nezinguquko ezithile esimweni sobuso bazo . Lokhu kusho ukuthi ezinye zezici zobuso bazo zingase zihluke kancane kwezinye izingane. Isibonelo, zingase zibe nomlomo obanzi, izindebe eziqinile, ikhala eliphakanyisiwe, namehlo ajulile. Zingase zibe nalokhu:
- Ukuqunjelwa : Ukuqunjelwa kungenzeka njalo. Qaphela lokhu uma ingane yakho ivame ukuzizwa sengathi inenkinga yokuphuma indle.
- Isifo Sokuxhuzula : Lokhu kusho ukuba nesithuthwane . Kungabangela ukuxhuzula okungazelelwe kanye nokulahlekelwa ukwazi.
- Ubuthakathaka bemisipha (Hypotonia): Imisipha emzimbeni ingase izwakale ibuthakathaka futhi ingenampilo. Ingane ingase izizwe ibuthakathaka kakhulu.
- Ukuba nekhanda elincane (i-Microcephaly): Ikhanda lingase libe lincane kunokujwayelekile ngokweminyaka yalo.
- I-Myopia (ukubona eduze): Nakuba ungabona izinto eziseduze, ungase ungakwazi ukubona izinto ezikude ngokucacile.
- I-Strabismus (amehlo ahlanganisiwe): Amehlo awakwazi ukukhomba ohlangothini olufanayo, futhi iso elilodwa lingaphendukela ngaphakathi noma ngaphandle.
- Ubunzima bokuphefumula nezinkinga zokuphefumula: Ngezinye izikhathi ungase ube neziphepho zokubamba umoya noma ukuphefumula okusheshayo (hyperventilation) . Lokhu kungenzeka ngenkathi ulele noma uvukile.
Iyini imbangela yalesi simo?
Imbangela eyinhloko yalokhu
ukuguquka kwezakhi zofuzo ze-TCF4.. Le gene ye-TCF4 ilawula amaprotheni ubuchopho bakho kanye nesistimu yezinzwa okudingeka iwakhe. Ngakho-ke, uma kukhona iphutha kule gene, lithinta ukukhula kwengane. Manje ungase uzibuze ukuthi lokhu kuyinto evela kubazali. Nansi indlela,
- Ngezinye izikhathi, uma omunye wabazali enalolu shintsho lwezakhi zofuzo , kunethuba elingu-50% lokuthi ingane izoba nalesi simo. Lokhu kubizwa ngokuthi i-autosomal dominant pattern .
- Kodwa-ke, noma ngabe bobabili abazali abanalo lolu shintsho lwezakhi zofuzo , ingane isengaluthuthukisa lolu shintsho lwezakhi zofuzo. Okusho ukuthi, kungenzeka ngaphandle komlando womndeni. Lokhu kubizwa ngokuthi i-de novo occurrence . Ngakho-ke, lokhu akuyona into umuntu angayivimbela. Akulona iphutha lakho, futhi akuyona enye into.
Odokotela bakubona kanjani lokhu?
Uma ingane yakho izalwa, wena nodokotela wakho ningabona
izinguquko ezithile ekubukekeni kwayo . Noma, njengoba ingane yakho ikhula, udokotela wakho angabona izimpawu ze-Pitt-Hopkins syndrome ngesikhathi
sokuvakasha kwengane ephilile noma ukuvakasha kwengane ephilile . Bangase ba-ode
ukuhlolwa okukhethekile ukuqinisekisa isimo.
Yiziphi izivivinyo ezenziwayo ukuqinisekisa lokhu?
Udokotela wakho angase asikisele
ukuhlolwa kwezakhi zofuzo kwengane yakho. Lokhu kuhilela ukuthatha
isampula yegazi noma
isampula ye-DNA kusuka ku-swab (isampula yamaseli athathwe ngaphakathi kwesifuba). Isazi sezakhi zofuzo sizobe sesihlola isampula ukuze sibone ukuthi kukhona yini
ukuguquka kwezakhi zofuzo ze-TCF4 .
Uma ingane yakho inesimo esifana nokuquleka, udokotela wakho angase futhi acele ukuhlolwa okufana nalokhu:
- Ukuhlolwa kwe-EEG (i-Electroencephalogram): Lokhu kulinganisa umsebenzi kagesi wobuchopho. Njenge-ECG yenhliziyo, kunganikeza umbono wokusebenza kobuchopho.
- Iskeni se-MRI (Magnetic Resonance Imaging): Lokhu kuthatha izithombe zobuchopho ukuze kubonakale ukuthi kukhona yini izinguquko.
Yiziphi izindlela zokwelapha lokhu?
Ngeshwa,
ayikho ikhambi le- Pitt-Hopkins Syndrome (PTHS). Kodwa-ke,
izimpawu zalesi simo zingelashwa . Lokhu kusho ukuthi singasiza ekunciphiseni ukungakhululeki ingane yakho ebhekana nakho futhi senze impilo yayo ibe lula kancane. Ungakhuluma nodokotela wakho ukuze ubone ukuthi ingane yakho idinga izinsizakalo zalaba ochwepheshe:
- Udokotela Wezifo Zesisu: Ngezinkinga ezifana nokuqunjelwa.
- Udokotela Wezinzwa: Ngezinto ezifana nokuquleka kanye nobuthakathaka bemisipha.
- Udokotela wamehlo: Ngezinkinga zokubona.
- Udokotela Wezifo Zamaphaphu: Ngezinkinga zokuphefumula.
Ithimba lezokwelapha lengane yakho lizosebenzisana ukuthuthukisa
uhlelo lokwelapha oluhambisana nezimpawu zengane yakho . Lokhu kusho ukwelapha ukuqunjelwa, izinkinga zokubona, nezinkinga zokuphefumula ngokwehlukana. Izimpawu zengane yakho zingashintsha ngokuhamba kwesikhathi, ngakho-ke kungadingeka
ukuthi ubonane nodokotela wakho kaningi futhi ulungise ukwelashwa kwakho . Ungakhathazeki, konke lokhu kumayelana nokunikeza ingane yakho impilo engcono kakhulu.
Ingabe i-Pitt-Hopkins Syndrome (PTHS) ingavinjelwa?
Njengoba lokhu
kubangelwa ukuguquka kwezakhi zofuzo , akukho lutho ongakwenza ukuvimbela lokhu kuguquka kwezakhi zofuzo. Kodwa-ke,
uma wena, umlingani wakho, noma othile emndenini wakho enalesi simo sezakhi zofuzo, noma uma unomlando we-Pitt-Hopkins syndrome , kubaluleke kakhulu ukukhuluma nodokotela.
Ngingazi kanjani ukuthi ingane yami isengozini yokuthola lesi simo?
Uma ulindele umntwana, futhi wena noma umlingani wakho ninomlando womndeni wezinkinga zofuzo, khuluma nodokotela wakho mayelana
nokwelulekwa ngaphambi kokukhulelwa . Kungaba usizo kakhulu. Umeluleki wezakhi zofuzo angakutshela okwengeziwe ngalokhu.
Uma ingane yami ine-Pitt-Hopkins syndrome, yini okufanele ngiyilindele?
Izingane ezine-Pitt-Hopkins syndrome zivame ukudinga
ukunakekelwa okukhethekile kwezokwelapha kanye nezinsizakalo zemfundo . Udokotela wakho angase ancome izinto ezifana nalezi:
- Ukwelashwa Komsebenzi: Kusiza ngemisebenzi yansuku zonke, ukudlala, kanye nokuzinakekela. Laba bantu basiza ngezinto ezifana nokudla nokugqoka.
- Ukwelashwa ngokomzimba: Kusiza ngokuhamba, ukulinganisela, kanye namandla emisipha. Lokhu kubalulekile ekwakheni amandla omzimba wengane.
- Ukwelapha ngenkulumo: Kukusiza ukuthi ukhulume, uqonde ukuthi abanye bathini, futhi uxhumana. Ngisho noma ungenawo amagama, ungafundiswa ukuziveza ngezinye izindlela.
Iyini isikhathi sokuphila salaba bantwana? (Isibikezelo)
Isikhathi sokuphila kwezingane ezine-Pitt-Hopkins syndrome singahluka . Ezinye izingane
ziphila zize zibe ngabantu abadala . Kungcono ukubuza udokotela wakho ukuthi ungasiza kanjani ingane yakho ukuba iphile impilo enempilo. Ingane ngayinye ihlukile, ngakho-ke uhambo lwawo wonke umuntu luhlukile.
Ngingayinakekela kanjani ingane yami ene-Pitt-Hopkins syndrome?
Khuluma nodokotela wengane yakho ngezidingo zayo
zempilo nezemfundo . Ezinye izindlela zokwelapha, noma
Amadivayisi Okuxhumana Okungeziwe kanye Nokwehlukile (AAC) angasiza ingane yakho ukuthi ixhumane nabanye. Udokotela wakho angakhuluma nawe ngama -Individualized Education Plans (IEPs) kanye nezinye izinsiza ezingasiza ingane yakho. Kunezindlela ezikhethekile zokufundisa izingane ezinalezi zikhubazo, ngakho zihlole. Ingane yami kufanele ibone nini udokotela?
Kubalulekile ukuyisa ingane yakho kudokotela njalo futhi uqaphe impilo yayo . Buza udokotela wakho ukuthi kufanele ibone kangaki uchwepheshe. Futhi, tshela udokotela wakho ngokushesha uma ingane yakho ithola izimpawu ezintsha . Kungumqondo omuhle ukutshela udokotela wakho uma ingane yakho inomkhuhlane noma yenza ngendlela ehlukile kunejwayelekile. I-Pitt-Hopkins syndrome iyithinta kanjani indlela ingane eziphatha ngayo?
Into engcono kakhulu ukuthi iningi lezingane ezine-Pitt-Hopkins syndrome lijabule kakhulu futhi linobungane nabantu . Lingase lihleke kakhulu, lihleke kakhulu, futhi ngezinye izikhathi lenze kanjalo ngaphandle kwesizathu. Ungase ubabone beshaya izandla zabo futhi benyakazisa emuva naphambili . Konke lokhu kuyingxenye yalesi simo. Lingase libathole bejabule futhi bekhululekile. Kodwa-ke, ezinye izingane zingase zibe nokukhathazeka noma zibe namahloni . Uma unenkinga nganoma yiziphi izinguquko ekuziphatheni kwengane yakho, khuluma nodokotela wakho ngakho. Njengomzali omusha, ungase uzizwe wesaba kakhulu futhi ushaqekile lapho uthola ukuthi ingane yakho inesifo esingavamile sofuzo njenge-Pitt-Hopkins syndrome. Lokho kuvamile kakhulu. Kodwa, khumbula, ngokunakekelwa kwezokwelapha kanye nokwelashwa kochwepheshe, ingane yakho ingaphila impilo enempilo .
Udokotela wakho angakudlulisela kumeluleki wezakhi zofuzo . Bangochwepheshe bezakhi zofuzo. Bangakusiza uzizwe ungcono, bakusize uqonde ukuxilongwa, futhi bakuqondise kulokho ongakwenza ukusiza ingane yakho iphile impilo enempilo neyanelisayo . Khumbula ukuthi awuwedwa kulolu hambo. Izinto ezibaluleke kakhulu okufanele uzikhumbule
Sithemba ukuthi usuyaqonda i-Pitt-Hopkins Syndrome (PTHS) njengoba sesixoxile ngayo. Nakuba lesi kuyisimo esingavamile, kubaluleke kakhulu ukuqaphela.- I-PTHS yisimo sofuzo esibangelwa ukuguquka kwezakhi zofuzo ze-TCF4. Lokhu kuthinta ukuthuthukiswa kobuchopho kanye nesistimu yezinzwa.
- Izimpawu ziyahlukahluka. Ukulibaziseka kokukhula, ubunzima bokukhuluma, izinguquko zobuso, ukuxhuzula, kanye nezinkinga zokuphefumula yizona eziyinhloko.
- Lokhu akuyona i-autism, kodwa ezinye zezimpawu zingase zifane.
- Nakuba kungekho ukwelashwa okuphelele, izimpawu zingelashwa. Izindlela zokwelapha ezahlukahlukene kanye nosizo lodokotela abangochwepheshe ziyatholakala.
- Ukuhlonza kusenesikhathi kanye nokuphathwa kahle kusiza kakhulu ekuthuthukiseni izinga lempilo yengane.
- Awuwedwa. Odokotela, abelaphi, nabeluleki bakulungele ukukusiza wena nengane yakho. Ungesabi ukufuna usizo lwabo.
- Ingane ngayinye ihlukile. Izingane ezine-PTSD zinamakhono azo ahlukile nezindlela zokujabula. Into ebaluleke kakhulu ukubanikeza uthando, ukunakekelwa, kanye nokusekelwa okufanele.
I-Pitt-Hopkins Syndrome, i-PTHS, izifo zofuzo, i-TCF4 gene, ukubambezeleka kokukhula, ukukhubazeka kwengqondo, ukuquleka, impilo yengane, ukwelulekwa ngofuzo
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