Ingaba umntwana wakho omncinci unazo ezi mpawu? Masithethe ngePrader-Willi Syndrome

Usenokuba ubukhe waba neenkxalabo malunga nokukhula nokukhula komntwana wakho, okanye malunga nendlela atya kwaye asela ngayo. Ezinye iintsana zifuna ukhathalelo olukhethekileyo. Namhlanje, siza kuthetha ngemeko engaqhelekanga kodwa ebalulekileyo ekufuneka uyiqaphele.

Yintoni iPrader-Willi Syndrome?

Ngamafutshane, iPrader-Willi Syndrome (PWS) yimeko engaqhelekanga yemfuza echaphazela imetabolism yomntwana. Inokubangela utshintsho ekukhuleni nasekuziphatheni komntwana.

Umntwana omncinci onesi sifo akanazo izihlunu ezininzi (hypotonia). Oku kuthetha ukuba umzimba usenokuziva ubuthathaka kakhulu. Kunokuba nzima ukuncancisa nokutya ukutya ekuqaleni. Nangona kunjalo, phakathi kweminyaka emibini nemithandathu ubudala, kuqala ukukhula indlala engaqhelekanga, okanye indlala engapheliyo (hyperphagia). Ukuba ukutya akulawulwa kakuhle, oku kutya kakhulu kunokukhokelela ekubeni umntwana abe mkhulu kakhulu, okanye atyebe kakhulu.

Ukongeza, i-PWS inokubangela ukuba umntwana aphoswe ziindlela eziqhelekileyo zokukhula aze alibazise ukufikisa. Amaxesha amaninzi, iingxaki ezisongela ubomi zinokwenzeka, ezifana neengxaki zokuphefumla, iingxaki zentliziyo ezibangelwa kukutyeba kakhulu, i-sleep apnea, kunye nesifo seswekile.

Ngubani ochaphazeleka kakhulu yile meko?

Enyanisweni, le meko ibizwa ngokuba yiPrader-Willi syndrome inokwenzeka nakubani na. Ngenxa yokuba ibangelwa yimfuza, idla ngokwenzeka ngokungacwangciswanga, oko kuthetha ukuba yenzeka ngaphandle kwesizathu xa kwakheka iiseli zentsholongwane. Amaxesha amaninzi, inokufunyanwa njengelifa ukuba umntu kusapho lwakhe wayenale meko ngaphambili.

Ixhaphake kangakanani iPrader-Willi Syndrome?

Le yimeko engaqhelekanga kakhulu. Ukuba ujonga kwihlabathi liphela, imalunga nenye kwi-10,000 ukuya kwinye kwi-30,000 yeentsana. Ngoko ke, ungacinga ukuba oku kunqabile kangakanani.

Zithini iimpawu zePrader-Willi Syndrome?

Indlela i-PWS echaphazela ngayo umntu ngamnye inokwahluka, kodwa kukho iimpawu ezithile eziqhelekileyo.

Iimpawu ezibonakala ngexesha lokukhulelwa:

Ezinye zezi mpawu zinokubonakala kwangoko emva kokuba umntwana ezelwe:

• Ukukhala okubuthathaka .
• Ukudinwa rhoqo kunye nokudinwa.
• Ubunzima bokuncanca nokutya (Ukungakwazi kakuhle ukutyisa).
• Ukutyhafa okanye ukungabikho kwemisipha (hypotonia). Kungavakala ngathi umzimba wakho ugobile njengonodoli.

Iimpawu zomzimba ezibonakala njengoko umntwana ekhula:

Ezi mpawu ngamanye amaxesha zibakho xa umntwana ezalwa, kodwa zibonakala ngakumbi njengoko umntwana ekhula:

• Amehlo amile okwe -almond.
• Intloko ende, emxinwa.
• Umlomo ongunxantathu.
• Ukuba mfutshane kancinci kunabanye abantwana (ubude obufutshane).
• Izandla neenyawo ezincinci.
• Izitho zangasese ezingaphuhliswanga kakuhle.

Iimpawu ezichaphazela ukukhula nokuziphatha komntwana:

Ezi ziimpawu abazali abaziva kakhulu ngamanye amaxesha, kwaye zinokuba nzima kancinci:

• Ukucaphuka ngokukhawuleza, ukudubuleka ngokweemvakalelo okanye ukuba nenkani.
• Ukukhubazeka kwengqondo: Oku kuthetha ukuba kuthatha ixesha ukufunda nokuqonda izinto ezintsha.
• Iindlela zokuziphatha ezigqithisileyo okanye ezinyanzelisayo ezifana nokukha ulusu .
• Iingxaki zokulala. Ngamanye amaxesha uziva ulele kakhulu emini, kwaye ebusuku, uzive ngathi awukwazi ukulala.
• Iingxaki zokutya. Olu lolona phawu lubonakalayo. Nokuba utya kangakanani na, awuziva ugcwele. Oku kukhokelela ekutyeni kakhulu (hyperphagia).

Khawuthelekelele ukuba bekuya kuba nzima kangakanani ukuba umntwana wakho, nokuba utye kangakanani na, aqhubeke esithi, "Ndifuna okungakumbi, ndilambile." Oku kutya kakhulu kunokukhokelela ekutyebeni kakhulu kwiklasi yesi-3, nto leyo enokunyusa umngcipheko wokufumana ezinye iingxaki, ezifana nesifo seswekile nesifo sentliziyo.

Yintoni isizathu soku? Kutheni oku kusenzeka?

I-Prader-Willi syndrome ibangelwa kukutshintsha kwezakhi zofuzo zethu. Ngokukodwa, ezinye izakhi zofuzo ezikwi -chromosome 15 emizimbeni yethu azisebenzi kakuhle.

Sonke sifumana ikopi enye ye-chromosome 15 kumama wethu xa sikhulelwe, kunye nekopi enye evela kubaba wethu. Ngokwesiqhelo, ii-genes ezikwikopi ye-chromosome 15 evela kubaba wethu ziyavulwa, oko kukuthi, "zivuliwe." Ii-genes ezikwikopi ye-chromosome 15 evela kumama wethu "azikho," oko kukuthi, azithethi. Oku sikubiza ngokuba yi-'genomic imprinting'. Nangona kunjalo, zombini iikopi ziyafuneka ukuze ii-genes emizimbeni yethu zisebenze ngokufanelekileyo.

Ngoku, imeko ethi `PWS` inokubangelwa lutshintsho oluninzi kule chromosome 15:

• Ukususwa kweChromosomal : Kwizigulane ezimalunga nama-70% ze-PWS, inxalenye yeechromosome ezili-15 ezizuzwe kutata ayikho kwiseli nganye. Ngoko ke, iimpawu zenzeka kuba iigenes ezivela kutata azisebenzi kakuhle kwaye iigenes ezivela kumama azithethi.
• I-disomy yomzali ongaphantsi komzali: Malunga nama-25% exesha, umntwana ufumana iikopi ezimbini ze-chromosome 15 kunina kwaye akukho namnye kuyise. Kwimeko enjalo, zombini iikopi ze-chromosome 15 azithethi, ngoko ke ii-genes azisebenzi kakuhle.
• Ukudluliselwa kweseli: Kwiimeko ezingaphantsi kwe-1%, isiqwenga se-chromosome 15 siyaqhekeka size sinamathele kwenye i-chromosome. Emva koko, ii-gene azikho apho zifanele ukuba khona, ngoko ke azenzi umsebenzi ezimele ukuba zenzeke.

Ngamafutshane, le chromosome 15 yiyo enika imiyalelo yokwenza izinto ezibizwa ngokuba yi-'small nucleolar RNAs (snoRNAs)' ezinceda iiseli zethu ukuba zenze izinto ezahlukeneyo. Ezi 'snoRNAs' zilawula ezinye iimolekyuli ze 'RNA'. Iimolekyuli ze 'RNA' zenza iiproteni, kwaye ezo proteni zenza umsebenzi omninzi kwiiseli. Ngoko ke, xa kukho ingxaki nge-chromosome 15, yonke le nkqubo iyaphazama.

Oogqirha bayixilonga njani le nto? (Ukuxilongwa)

Ugqirha uxilonga isifo sePrader-Willi ngokumhlola ngononophelo umntwana aze enze uvavanyo lwemfuza. Ugqirha uza kujonga iimpawu zomzimba zomntwana aze akubuze imibuzo malunga neempawu zomntwana wakho, indlela atya ngayo, kunye nokuziphatha kwakhe.

Ukuba kukho naluphi na urhano malunga ne-PWS, kuya kufuneka kwenziwe uvavanyo lwemfuza . Olu luvavanyo lwegazi oludla ngokuba luvavanyo lwegazi. Oku kunokumisela ngokuchanekileyo ukuba kukho naziphi na iingxaki kwi-DNA yomntwana, oko kukuthi, utshintsho kwimfuza.

Zithini iindlela zonyango zoku?

Xa kunyangwa isifo sePrader-Willi, eyona nto iphambili kukulawula iimpawu nokuthintela iingxaki. Akukho nyango lunye loku, kodwa kusetyenziswa indibaniselwano yonyango.

Iindlela zonyango:

• Kwiintsana ezincinci, ungasebenzisa izixhobo ezikhethekileyo ezifana neengono ezikhethekileyo zebhotile ukuze zibancede basele ubisi . Ngenxa yokuba kunzima ukufunxa ubisi, kufuneka bafumane isondlo abasidingayo.
• Eyona nto ibalulekileyo kukunceda umntwana wakho atye ngokufanelekileyo . Oku kuthetha ukumnika ukutya okune-calories ephantsi nokulawula umlinganiselo atya ngawo. Oku kunokuba nzima kancinci, njengoko umntwana wakho ehlala elambile.
• Amayeza anikwa ukonyusa iihomoni ezithile . Umzekelo, ihomoni yokukhula. Kumakhwenkwe, i-testosterone okanye i-human chorionic gonadotropin (HCG) inokunikwa, kwaye kumantombazana, i-estrogen.
• Unyango oluxhasayo lubaluleke kakhulu. Unyango lomzimba lunceda ukuqinisa izihlunu, unyango lolwimi lokuthetha lunceda ukuphucula intetho, kwaye imfundo ekhethekileyo inceda ukuphucula izakhono zokufunda zomntwana.

Zithini iziphumo ebezingalindelekanga zePrader-Willi Syndrome?

Amaxesha amaninzi, abantwana abanale meko batyeba kakhulu ngenxa yokutya kakhulu. Oku kutyeba kakhulu kunokukhokelela kwezinye iingxaki:

• Iingxaki zentliziyo.
• Isifo Seswekile (Uhlobo Lwesibini Lwesifo Seswekile).
• Uxinzelelo lwegazi oluphezulu (uxinzelelo lwegazi oluphezulu).
• Iingxaki zokuphefumla.
• Ukuphelelwa ngamandla xa ulele.

Nangona ukutyeba kakhulu yimeko enzima, inokulawulwa. Ugqirha womntwana wakho uya kukwazi ukukunika isikhokelo esifanelekileyo kule nto.

Ngaba singakuthintela oku?

Ngelishwa, i-Prader-Willi syndrome ayinakuthintelwa . Yimfuza. Uninzi lwexesha, ibangelwa kukuguquka kwemfuza okungacwangciswanga. Ayinakuqikelelwa. Ayibangelwa yinto eyenziwa ngabazali ngaphambi okanye ngexesha lokukhulelwa.

Ukuba uceba ukuba nomnye umntwana, okanye ukuba ufuna ukufunda okungakumbi ngale nto, licebo elihle ukufumana ingcebiso ngemfuza. Emva koko, ungathetha ngomngcipheko wokuba nomntwana onesi sifo semfuza.

Yintoni endimele ndiyilindele ukuba umntwana wam unePrader-Willi Syndrome?

Oku kunokukwenza uzive ulusizi kakhulu kwaye wothukile. Yinto eqhelekileyo leyo. Nangona kunjalo, ngonyango olufanelekileyo kwasekuqaleni kunye nonyango oluhle oluqhubekayo , uninzi lwabantwana abanePrader-Willi syndrome banokuphila ubomi obuqhelekileyo.

Kuqhelekile ukuba ufune uncedo olongezelelekileyo ngomsebenzi wesikolo. Bonke abantwana abane-PWS baya kufuna inkxaso ebomini babo bonke ukuze baphile ngokuzimela kangangoko kunokwenzeka. Ugqirha wakho angakuthumela kwingcali yesondlo. Banokukunceda ulawule ukutya komntwana wakho kwaye benze isicwangciso sokutya. Kwakhona kuyanceda abazali kunye neentsapho ukubona umcebisi wezempilo yengqondo okanye ukujoyina iqela lenkxaso kwiintsapho ezinabantwana abanale meko. Oku kunokukunceda ufunde iindlela ezintsha zokumelana nokuxhasa umntwana wakho.

Ngaba ikho indlela epheleleyo yokunyanga oku?

Hayi, okwangoku akukho nyango lwePrader-Willi syndrome. Nangona kunjalo, uphando luyaqhubeka ukuze kuqondwe ngakumbi le meko.

Ndifanele ndibonane nogqirha nini?

Ukuba ucinga ukuba umntwana wakho uneempawu zePrader-Willi syndrome, bonana nogqirha womntwana wakho ngoko nangoko . Musa ukungayihoyi nayiphi na into yokulibaziseka kokukhula (iziganeko zokukhula ezingaphumelelanga) ngexesha lobuntwana. Ukuba imeko iqatshelwe kwangethuba, ugqirha wakho unokunceda ekulawuleni imeko yomntwana wakho, amncede afikelele kwiziganeko zokukhula, kwaye anciphise iingxaki ngokulawula ukutya kwakhe.

Ndingayibuza yiphi imibuzo ugqirha?

Xa usiya kugqirha, kungcono ukubuza imibuzo efana nale:

• Ndingamkhusela njani umntwana wam ekutyebeni kakhulu?
• Unyango lomntwana wam luza kuquka ntoni?
• Ziziphi iingxaki zokuziphatha ezinokuba nazo umntwana wam?
• Ngaba kukho amaqela enkxaso anokusinceda sifunde kwaye sijongane ne-PWS?
• Ingaba yinto elungileyo na ukuba kwenziwe uvavanyo lwemfuza kusapho lwam lonke?

Kuqhelekile ukuziva uxinezelekile xa ufumanisa ukuba umntwana wakho unesifo esingaqhelekanga nesinganyangekiyo. Nangona kunjalo, iqela lezonyango lomntwana wakho liya kukunika inkxaso kunye nolwalathiso olufunekayo. Umntwana wakho unokuthatha ixesha elide ukufikelela kwimigangatho yokukhula kunabanye abantwana abaneminyaka yakhe. Baya kufuna nonyango oluxhasayo ubomi bonke ukuthintela iingxaki. Ukuba unemibuzo malunga nokuxilongwa komntwana wakho okanye indlela engcono yokunyamekela umntwana wakho, ungathandabuzi ukuthetha nogqirha womntwana wakho.

Izinto ezibalulekileyo ekufuneka sizikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, makhe siphinde sichaze ezinye zezinto ezibalulekileyo esithethe ngazo namhlanje malunga nePrader-Willi Syndrome:

• Le yimeko engaqhelekanga kakhulu yemfuza, oko kuthetha ukuba ayibangelwanga yimpazamo yabazali.
• Ezinye iimpawu zinokubonakala kwanasebuntwaneni , njengokuphelelwa lithemba kunye nobunzima bokuncancisa.
• Ukulamba rhoqo nokutya kakhulu ziimpawu eziphambili zale meko, nto leyo enokubangela ukutyeba kakhulu.
• Oku kunokuchaphazela ukukhula komntwana, ukuziphatha kwakhe, nokufunda kwakhe.
• Nangona kungekho nyango, kukho unyango olunokunceda ukulawula iimpawu kunye nokuphila ubomi obungcono. Kubaluleke kakhulu ukuqaphela isifo kwangethuba kwaye uqale unyango.
• Inkxaso kubazali nakusapho ibaluleke kakhulu. Ungafumana uncedo koogqirha, iingcali zezondlo, iingcali zonyango, kunye namaqela enkxaso.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unenkxalabo malunga nomntwana wakho, ungathandabuzi ukufuna ingcebiso kagqirha.

Isifo sikaPrader -Willi, i-PWS, izifo zemfuza, impilo yabantwana, ukutyeba kakhulu, ukutya, ukulibaziseka kokukhula