Ngaba ukhe ube nombuzo okanye inkxalabo malunga nokukhula okanye ukuziphatha komntwana wakho? Ngamanye amaxesha siyoyika xa oogqirha bethetha ngamagama amatsha nezifo, akunjalo? Namhlanje siza kuthetha ngesifo esingaqhelekanga semfuza osenokuba awuzange uve ngaso, kodwa kubaluleke kakhulu ukwazi ngaso. Sibizwa ngokuba yiPitt-Hopkins Syndrome (PTHS).
Yintoni kanye kanye iPitt-Hopkins Syndrome (PTHS)?
Ngamafutshane, le
yimeko yemfuza . Oko kukuthi, ibangelwa lutshintsho kwiijini emizimbeni yethu, ezifana neseti yemiyalelo emincinci elawula yonke into emzimbeni wethu. Oku kuchaphazela kakhulu
uphuhliso lwengqondo yomntwana kunye nenkqubo yemithambo-luvo . Ngenxa yoku, uphuhliso oluqhelekileyo lomntwana lunokulibaziseka, ukukhubazeka kwengqondo kunokubonwa. Ukongeza, aba bantwana banokuba
notshintsho oluthile kwimo yobuso babo . Basenokujongana neemeko ezifana
nobunzima bokuphefumla kunye nokuxhuzula .
Ingaba le yinxalenye yemeko ye-autism?
Abantu abaninzi banokucinga ukuba le yimeko efana ne-autism spectrum disorder. I-Pitt-Hopkins syndrome
ayisiyo-autism ngokwenene . Nangona kunjalo, abantwana abanale meko banokubonisa
ezinye zeempawu ezifanayo nezabantwana abane-autism. Ke ngoko, ngamanye amaxesha abazali noogqirha banokubhideka kancinci. Kodwa kufuneka siqonde ukuba ezi ziimeko ezimbini ezahlukeneyo.
Ngubani ofumana le meko? Ixhaphake kangakanani?
I-Pitt-Hopkins Syndrome (PTHS)
inokuchaphazela nabani na . Iimpawu zihlala ziqala ukubonakala
ebuntwaneni . Nangona kunjalo, eyona nto ibalulekileyo ekufuneka uyazi kukuba esi
sisifo esingaqhelekanga kakhulu esibangelwa yimfuza . Cinga nje,
ngabantu abamalunga nama-500 kuphela kwihlabathi liphela abaye bafunyaniswa benesi sifo. Ngoko ke, esi sisifo esingaqhelekanga kakhulu.
Oku kuza kumchaphazela njani umntwana wam?
Ukongeza kwiimpawu zomzimba, umntwana onesi sifo unokufumana ezinye iziphumo ezininzi. Okuphambili:
- Ukulibaziseka kokukhula: Abantwana banokucotha ukwenza izinto ezifanelekileyo ngokweminyaka, njengokuqengqeleka, ukuhlala, nokuhamba. Ngaba uvakalelwa kukuba umntwana wakho uyacotha ukuncuma, ukwenza ingxolo, okanye ukuqaphela umama wakhe njengabanye abantwana? Ezi zibizwa ngokuba kukulibaziseka kokukhula.
- Ukungakwazi ukuthetha okanye ukukhula kolwimi okulinganiselweyo: Abanye abantwana basenokungakwazi ukuthetha amagama, okanye basenokuba namagama ambalwa kakhulu. Banokukwazi ukwenza izandi kuphela.
- Ukuphazamiseka kwengqondo: Kusenokubakho ukuphazamiseka okuthile ekuqondeni nasekufundeni. Kusenokubonakala ngathi kuthatha ixesha ukufunda into entsha.
- Izakhono zokunxulumana nabantu ezincinci: Kusenokubakho ukuncipha komdla kunye nokukwazi ukudlala nokuthetha nabanye. Basenokubonisa nokukhetha ukuba bodwa.
Zithini iimpawu zePitt-Hopkins syndrome (PTHS)?
Njengoko bekutshiwo ngaphambili, le meko ichaphazela ukukhula komntwana. Iimpawu eziphambili
kukucotha ekufundeni ukuhamba ,
ubunzima bokuthetha kunye nezakhono zonxibelelwano . Ukongeza, abantwana abanePitt-Hopkins syndrome banokuba
notshintsho oluthile kwimo yobuso babo . Oku kuthetha ukuba ezinye zeempawu zobuso babo zinokwahluka kancinci kwabanye abantwana. Umzekelo, banokuba nomlomo obanzi, imilebe etyebileyo, iimpumlo ezijonge phezulu, kunye namehlo anzulu. Basenokuba nazo:
- Ukuqhina : Ukuqhina kungenzeka rhoqo. Qaphela oku ukuba umntwana wakho uhlala evakalelwa kukuba unengxaki yokuqunjelwa.
- Isifo sokuwa : Oku kuthetha ukuba nokuwa . Kunokubangela ukuxhuzula ngequbuliso kunye nokulahlekelwa zingqondo.
- Ubuthathaka bemisipha (Hypotonia): Ithoni yemisipha iyancipha, kwaye umzimba usenokuziva ungenabomi. Umzimba womntwana usenokuziva utyhafile kakhulu.
- Ukuba nentloko encinci (Microcephaly): Intloko isenokuba ncinci kunesiqhelo ngokweminyaka yayo.
- I-Myopia (ukubona izinto ezikufutshane): Nangona unokubona izinto ezikufutshane, usenokungakwazi ukubona izinto ezikude ngokucacileyo.
- I-Strabismus (amehlo anqamlezileyo): Amehlo awakwazi ukukhomba kwicala elinye, kwaye elinye iliso lingajika libheke ngaphakathi okanye ngaphandle.
- Ubunzima bokuphefumla kunye neengxaki zokuphefumla: Ngamanye amaxesha unokuba neempophoma zokubamba umoya okanye ukuphefumla ngokukhawuleza (hyperventilation) . Oku kungenzeka ngelixa ulele okanye uvukile.
Yintoni unobangela wale meko?
Eyona nto ibangela oku
kukuguquka kwejini ye-TCF4.. Le gene ye-TCF4 ilawula iiproteni ezifunekayo kwingqondo yakho nakwinkqubo yemithambo-luvo. Ngoko ke, ukuba kukho isiphene kule gene, ichaphazela ukukhula komntwana. Ngoku usenokuba uzibuza ukuba ingaba le yinto evela kubazali. Nantsi indlela,
- Ngamanye amaxesha, ukuba omnye wabazali une-gene mutation , kukho amathuba angama-50% okuba umntwana abe nale meko. Oku kubizwa ngokuba yi-autosomal dominant pattern .
- Nangona kunjalo, nokuba abazali bobabini abanalo olu tshintsho lwezakhi zofuzo , umntwana usenokuluhlakulela olu tshintsho lwezakhi zofuzo. Oko kukuthi, lunokwenzeka ngaphandle kwembali yosapho. Oku kubizwa ngokuba yi-de novo occurrence . Ngoko ke, oku akuyonto nabani na anokuyithintela. Akuyompazamo yakho, kwaye akuyonto enye.
Oogqirha bayibona njani le nto?
Xa umntwana wakho ezelwe, wena nogqirha wakho nisenokubona
utshintsho oluthile kwinkangeleko yakhe . Okanye, njengoko umntwana wakho ekhula, ugqirha wakho unokubona iimpawu zePitt-Hopkins syndrome ngexesha
lokutyelela umntwana ophilileyo okanye ukutyelela umntwana ophilileyo . Banokuyalela
iimvavanyo ezikhethekileyo ukuqinisekisa imeko.
Zeziphi iimvavanyo ezenziwayo ukuqinisekisa oku?
Ugqirha wakho angacebisa
uvavanyo lwemfuza lomntwana wakho. Oku kuquka ukuthatha
isampuli yegazi okanye
isampuli ye-DNA kwi-swab (isampulu yeeseli ezithathwe ngaphakathi esidleleni). Ingcali yemfuza iya kuhlola isampuli ukuze ibone ukuba kukho
utshintsho kwi-gene ye-TCF4 .
Ukuba umntwana wakho unemeko efana nokuxhuzula, ugqirha wakho unokuyalela iimvavanyo ezifana nezi:
- Uvavanyo lwe-EEG (i-Electroencephalogram): Olu vavanyo lulinganisa umsebenzi wombane wengqondo. Njenge-ECG yentliziyo, lunokunika umbono wokusebenza kwengqondo.
- Iskeni ye-MRI (Magnetic Resonance Imaging): Le ithatha imifanekiso yobuchopho ukuze ibone ukuba kukho naluphi na utshintsho.
Zithini iindlela zonyango zoku?
Ngelishwa,
akukho nyango lwePitt -Hopkins Syndrome (PTHS). Nangona kunjalo,
iimpawu zale meko zinokunyangwa . Oku kuthetha ukuba singakunceda ukunciphisa ukungonwabi okuviwa ngumntwana wakho kwaye senze ubomi bakhe bube lula kancinci. Ungathetha nogqirha wakho ukuze ubone ukuba umntwana wakho uyazifuna na iinkonzo zezi ngcali:
- Ingcali yeGastroenterologist: Kwiingxaki ezinje ngokuqhinwa.
- Ingcali yezifo zengqondo: Kwizinto ezinje ngokuxhuzula kunye nobuthathaka bemisipha.
- Ingcali yamehlo: Ngeengxaki zokubona.
- Ingcali yeMiphunga: Xa kukho ubunzima bokuphefumla.
Iqela lezonyango lomntwana wakho liza kusebenzisana ukwenza
isicwangciso sonyango esilungiselelwe iimpawu zomntwana wakho . Oku kuthetha ukunyanga ukuqhinwa, iingxaki zokubona, kunye neengxaki zokuphefumla ngokwahlukeneyo. Iimpawu zomntwana wakho zinokutshintsha ngokuhamba kwexesha, ngoko ke unokufuna
ukubona ugqirha wakho rhoqo kwaye ulungise unyango lwakho . Ungakhathazeki, konke oku kumalunga nokunika umntwana wakho ubomi obungcono kangangoko.
Ngaba iPitt-Hopkins Syndrome (PTHS) ingathintelwa?
Ekubeni oku
kubangelwa kukuguquka kwezakhi zofuzo , akukho nto unokuyenza ukuthintela olu tshintsho. Nangona kunjalo,
ukuba wena, iqabane lakho, okanye umntu kusapho lwakho unale meko yezakhi zofuzo, okanye ukuba unembali yePitt-Hopkins syndrome , kubaluleke kakhulu ukuthetha nogqirha.
Ndingazi njani ukuba umntwana wam usemngciphekweni wokufumana le meko?
Ukuba ulindele umntwana, kwaye wena okanye iqabane lakho ninembali yeentsapho ezineengxaki zemfuza, thetha nogqirha wakho malunga
neengcebiso ngaphambi kokukhulelwa . Kungakunceda kakhulu. Umcebisi wemfuza angakuxelela okungakumbi ngale nto.
Ukuba umntwana wam unePitt-Hopkins syndrome, ndimele ndilindele ntoni?
Abantwana abane-Pitt-Hopkins syndrome badla ngokufuna
unyango olukhethekileyo kunye neenkonzo zemfundo . Ugqirha wakho unokucebisa izinto ezifana nezi:
- Unyango lomsebenzi: Lunceda ngemisebenzi yemihla ngemihla, ukudlala, kunye nokuzinyamekela. Aba bantu banceda ngezinto ezifana nokutya nokunxiba.
- Unyango lomzimba: Lunceda ekuhambeni, ekulinganiseni nasekuqiniseni izihlunu. Oku kubalulekile ekwakheni amandla omzimba womntwana.
- Unyango lokuthetha: Lukunceda uthethe, uqonde oko kuthethwa ngabanye, kwaye unxibelelane. Nokuba awunamagama, ungafundiswa ukuziveza ngezinye iindlela.
Ingakanani iminyaka yokuphila kwaba bantwana? (Ingqikelelo)
Ubomi babantwana abanePitt-Hopkins syndrome buyahluka . Abanye abantwana
baphila baze babe ngabantu abadala . Kungcono ubuze ugqirha wakho ukuba ungamnceda njani umntwana wakho aphile ubomi obusempilweni. Wonke umntwana wahlukile, ngoko ke uhambo lomntu wonke lwahlukile.
Ndingamnyamekela njani umntwana wam one-Pitt-Hopkins syndrome?
Thetha nogqirha womntwana wakho malunga
neemfuno zakhe zempilo nezemfundo . Ezinye iindlela zonyango, okanye
Izixhobo zoNxibelelwano oluNcedisayo noluNye (AAC) zinokunceda umntwana wakho adibane nabanye. Ugqirha wakho angathetha nawe malunga neZicwangciso zeMfundo eziZimeleyo (ii-IEP) kunye nezinye izixhobo ezinokunceda umntwana wakho. Kukho iindlela ezikhethekileyo zokufundisa abantwana abakhubazekileyo, ngoko ke zijonge. Umntwana wam ufanele aye nini kugqirha?
Kubalulekile ukusa umntwana wakho kugqirha rhoqo kwaye ujonge impilo yakhe . Buza ugqirha wakho ukuba kufuneka abonane kangaphi nogqirha oyingcali. Kwakhona, xelela ugqirha wakho ngoko nangoko ukuba umntwana wakho ubonakalisa iimpawu ezintsha . Kungumbono olungileyo ukuxelela ugqirha wakho ukuba umntwana wakho unomkhuhlane okanye wenza ngendlela eyahlukileyo kunesiqhelo. I-Pitt-Hopkins syndrome iyichaphazela njani indlela umntwana aziphatha ngayo?
Eyona nto ilungileyo kukuba uninzi lwabantwana abanePitt-Hopkins syndrome bonwabile kakhulu kwaye banobubele . Basenokuhleka kakhulu, bahleke kakhulu, kwaye ngamanye amaxesha benza njalo ngaphandle kwesizathu. Usenokubabona beqhwaba izandla zabo beshukuma . Zonke ezi ziyinxalenye yeso simo. Basenokubafumana bonwabile kwaye bekhululekile. Nangona kunjalo, abanye abantwana banokuba nexhala okanye babe neentloni . Ukuba unenkxalabo malunga naluphi na utshintsho kwindlela umntwana wakho aziphethe ngayo, thetha nogqirha wakho ngaloo nto. Njengomzali omtsha, ungaziva uloyiko olukhulu kwaye wothukile xa ufumanisa ukuba umntwana wakho unesifo esingaqhelekanga semfuza njenge-Pitt-Hopkins syndrome. Oko kuqhelekile kakhulu. Kodwa, khumbula, ngonyango oluyingcali kunye nonyango, umntwana wakho angaphila ubomi obusempilweni .
Ugqirha wakho angakuthumela kumcebisi wezemfuza . Baziingcali kwimfuza. Banokukunceda uzive ungcono, bakuncede uqonde ukuxilongwa, kwaye bakunike isikhokelo kwinto onokuyenza ukunceda umntwana wakho aphile ubomi obusempilweni nobanelisayo . Khumbula ukuba awuwedwa kolu hambo. Izinto ezibaluleke kakhulu ekufuneka uzikhumbule
Siyathemba ukuba ngoku uyaqonda iPitt-Hopkins Syndrome (PTHS) njengoko besixoxa ngayo. Nangona esi sisifo esingaqhelekanga, kubaluleke kakhulu ukuba usiqaphele.- I-PTHS yimeko yemfuza ebangelwa kukuguquka kwezakhi zofuzo kwi-TCF4 gene. Oku kuchaphazela uphuhliso lwengqondo kunye nenkqubo yemithambo-luvo.
- Iimpawu ziyahluka. Ukulibaziseka kokukhula, ubunzima bokuthetha, utshintsho lobuso, ukuxhuzula, kunye neengxaki zokuphefumla zezona zinto ziphambili.
- Oku akusiyo i-autism, kodwa ezinye zeempawu zisenokufana.
- Nangona kungekho nyango lupheleleyo, iimpawu zinokunyangwa. Iindlela ezahlukeneyo zonyango kunye noncedo loogqirha abaziingcali ziyafumaneka.
- Ukuchongwa kwangethuba kunye nolawulo olufanelekileyo kunceda kakhulu ekuphuculeni umgangatho wobomi bomntwana.
- Awuwedwa. Oogqirha, iingcali zonyango, kunye nabacebisi bakulungele ukunceda wena nomntwana wakho. Musa ukoyika ukucela uncedo lwabo.
- Wonke umntwana uhlukile. Abantwana abane-PTSD baneziphiwo zabo ezikhethekileyo kunye neendlela zabo zokonwaba. Eyona nto ibalulekileyo kukubanika uthando, inkathalo kunye nenkxaso efanelekileyo.
Isifo sikaPitt-Hopkins, i-PTHS, izifo zemfuza, i-TCF4 gene, ukulibaziseka kophuhliso, ukukhubazeka kwengqondo, ukuxhuzula, impilo yomntwana, ingcebiso yemfuza
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