Ngaba uyayazi iKoolen-de Vries Syndrome? Makhe sithethe ngayo!

Ngaba umntwana wakho omncinci usemva kancinci kunabanye abantwana xa ehleli, ethetha, okanye ehamba? Kuqhelekile ukuba abazali bazive bexhalabile kwaye bexhalabile xa bebona izinto ezinje. Kodwa ayikuko ukulibaziseka konke konke okuyingxaki enkulu. Nangona kunjalo, kubalulekile ukuqaphela ezinye iimeko ezingaqhelekanga ezibangelwa zizinto zemfuza. Umzekelo, iKoolen-de Vries Syndrome yimeko esingayivayo yonke imihla, kodwa kufanelekile ukuyazi. Masithethe ngayo ngokulula, ngendlela onokuyiqonda.

Yintoni i-Koolen-de Vries Syndrome?

Ngamafutshane, iKuhlman-de Vries Syndrome (KdVS) yimeko engaqhelekanga yemfuza. Inxulumene neechromosomes emzimbeni wethu. Ngokuchanekileyo, ibangelwa lutshintsho oluncinci kwinombolo yethu yechromosome 17. Le meko inokubangela ukulibaziseka kophuhliso , inqanaba elithile lokukhubazeka kwengqondo, kunye nezinye iimpawu ezithile zobuso .

Usenokubona le meko okokuqala xa umntwana wakho ehlala yedwa emva kwexesha kunabanye abantwana abaneminyaka yakhe, ethetha amazwi akhe okuqala kamva, okanye ethatha ixesha elide ukuthatha amanyathelo akhe okuqala. Elinye igama lale meko yi-`17q21.31 microdeletion syndrome.` Nangona igama lisenokuvakala liyinkimbinkimbi kancinci, masijonge ngokusondeleyo ukuba lithetha ukuthini.

Into ebalulekileyo kukuba nangona ezi mpawu zingahluka kumntwana ngamnye, yinto eqhelekileyo kule meko ukuba aba bantwana bahlala bevuya kwaye benobuhlobo . Yinto entle kakhulu leyo. Nangona kunjalo, baya kufuna uncedo lwezonyango kunye nenkxaso ebomini babo bonke ukulawula ezinye iimpawu.

Ziziphi iimpawu ezinokubonakala kule meko?

Nangona iimpawu ezibonakala kubantwana abane-Kuhlman-de Vries syndrome (KdVS) zinokwahluka ukusuka komnye umntu ukuya komnye, kukho iimpawu ezithile eziqhelekileyo.

Iimpawu eziqhelekileyo:

• Ukulibaziseka kokukhula: Olu luphawu olukhulu. Oku kuthetha ukuba izinto ezinje ngokukhasa, ukuhlala, ukuhamba, nokuthetha zisenokuba emva kwexesha kunabanye abantwana abaneminyaka efanayo.
• Ukukhubazeka kwengqondo okuncinci ukuya kokuphakathi: Kusenokufuna ixesha elingakumbi kunye noncedo lokufunda nokuqonda izinto ezintsha.
• Ithoni yemisipha ebuthathaka (hypotonia): Ngokuchanekileyo, izihlunu emzimbeni zinokubonakala ngathi zikhululekile kwaye azinazo ukuqina. Oku kunokwenza kube nzima ukwenza iintshukumo ezithile.
• I-Cyclic vomiting syndrome: Abanye abantwana banokufumana ukuhlanza okungapheliyo kangangeentsuku ezininzi ngaphandle kwesizathu esibonakalayo. Oku kusenokuphinda kwenzeke ngamanye amaxesha.

Ezinye iimpawu abanye abantwana abanokuzibona:

Ukongeza kwezi mpawu ziphambili, abanye abantwana banokufumana ezinye iingxaki.

• Ubunzima bokutya kwiintsana: Ubunzima bokuncancisa nokuginya ukutya, ingakumbi ngexesha lobuntwana, bunokubakho.
• Ukuphazamiseka kwentliziyo, isinyi okanye izintso: Abanye abantwana banokuzalwa beneziphene ezithile entliziyweni, kwisinyi okanye kwizintso.
• I-Scoliosis: Imeko apho umqolo ugoba uye kwelinye icala.
• Iimeko zesifo sokuwa/ Ukuxhuzula : Iimeko ezifana nokuxhuzula zinokubakho.
• Amasende angaphambukiyo: Imeko apho amasende abantwana abangamakhwenkwe engehli ngokupheleleyo esiswini aye emathunjini.

Ukuziphatha komntwana kunye nobuntu bakhe

Abantwana abaneKoolen-de Vries Syndrome badla ngokubonwa njengabantu abonwabileyo nabanobubele . Banobuhlobo kakhulu nabantu. Nangona kunjalo, ngamanye amaxesha banokuba neemeko ezifana ne -Attention-Deficit/Hyperactivity Disorder (ADHD) okanye iimeko zophuhliso lwe-neurodevelopmental kunye nokuziphatha ezifana ne -Autism Spectrum Disorder .

Iimpawu ezikhethekileyo ezinokubonwa ebusweni babantwana abaneKoolen-de Vries Syndrome

Abantwana abanale meko banokuba neempawu ezithile zobuso. Kodwa khumbula, ukuba uneempawu enye okanye ezimbini kwezi akuthethi ukuba unesifo. Ezi zinto kufuneka ziqinisekiswe ngugqirha.

• Ubuso obude
• Ibunzi elikhulu
• Impumlo efana nepeya
• Ijwabu eligobileyo (i-ptosis)
• Iindlebe ezinkulu, ezivele ngaphandle
• Inkangeleko ejonge phezulu yeekona zangaphandle zamehlo
• Ulusu olugobileyo olugquma iikona zangaphakathi zamehlo (ii-epicanthal folds)

Ezi mpawu azibonakali ngendlela efanayo kumntwana ngamnye. Abanye abantwana banokuba neempawu ezininzi kwezi, ngelixa abanye banokuba nezimbalwa.

Yintoni ebangela i-Koolen-de Vries Syndrome?

Ngoku masibone ukuba yintoni ebangela le meko. I-Koolen-de Vries Syndrome ibangelwa kukuguquka okanye ukususwa ngokupheleleyo kwejini ethi `KANSL1` ekwi-chromosome 17.

Cinga nje, yonke iseli emzimbeni wethu inee-chromosomes. Ezi chromosomes zithwala ii-genes ezimisela yonke into ukusuka kwinkangeleko yethu ukuya kwiimpawu zethu. Ngokwesiqhelo, sineekopi ezimbini ze-chromosome nganye, enye evela kumama wethu kunye nenye evela kubaba wethu.

Ukusuka kubantwana abane-Kuhlman-de Vries syndrome (KdVS)Uninzi (malunga nama-95%) lunekopi engekhoyo yejini ye-`KANSL1` kwinombolo yabo ye-chromosome 17. Oku kubizwa ngokuba yi-`microdeletion` , oko kuthetha ukuba inxalenye encinci kakhulu yejini ayikho. Inxalenye encinci eseleyo inejini ye-`KANSL1`, kodwa inotshintsho oluthintela ijini ekusebenzeni kakuhle.

Indima yejini ethi `KANSL1`

Le gene ye-`KANSL1` ibaluleke kakhulu. Kuba ivelisa iproteni enceda ekulawuleni indlela ezinye ii-gene ezisebenza ngayo. Oku kwenzeka ngokutshintsha into ebizwa ngokuba yi-`chromatin` . I-`Chromatin` yindibaniselwano yeeproteni kunye ne -`DNA` . Yiyo le nto eyenza i-`DNA` ipakishwe kwii-chromosomes. Ngoko ungabona ukuba ibaluleke kangakanani i-`KANSL1` gene kuphuhliso olufanelekileyo kunye nokusebenza kakuhle kwamalungu kunye neenkqubo ezahlukeneyo emzimbeni wethu.

Ingaba le meko ifuzwa ngelifa? (Ilifa)

I-Cullen-de Vries syndrome (KdVS) yimeko enokuzuzwa njenge- "autosomal dominant" . Ngamafutshane, ukuba umntwana uzuzwa njengolu tshintsho lwezakhi zofuzo kumzali omnye kuphela, umntwana unokuba nale meko. Ibandakanya utshintsho olunye lwezakhi zofuzo okanye ukususwa kwiseli nganye.

Nangona kunjalo, ayisoloko iyinto ezuzwa ngabazali. Kwezinye iimeko, le meko inokwenzeka ngokungacwangciswanga, de novo. Oku kuthetha ukuba akukho mntu kusapho okhe waba nale meko ngaphambili, kwaye utshintsho lwemfuza lunokwenzeka okokuqala ngexesha lophuhliso lweeseli zokuzala zomntwana, okanye ngexesha lokuqala kwe-embryo. Ke ngoko, kunokwenzeka ukuba umntwana ayikhulele nokuba akukho mntu kusapho okhe waba nale meko.

Oogqirha bayixilonga njani le meko?

Ukuba ukrokrela ukuba umntwana wakho unale meko, into yokuqala ugqirha aza kuyenza kukuxilonga umntwana wakho ngononophelo aze akubuze ngeempawu zakhe. Oku kuya kukunceda ukuba uqonde ngcono ukukhula nokuziphatha komntwana wakho.

Emva koko, ukuqinisekisa le meko ngokuqinisekileyo, kufuneka uvavanyo lwemfuza. Ngokuxhomekeke kuhlobo lotshintsho lwemfuza, uhlobo lovavanyo olwenziweyo lunokwahluka.

• I-Chromosomal microarray: Olu vavanyo lunokufumanisa ukuba kukho inxalenye ye-chromosome engekhoyo na. Oku kunceda ekufumaneni 'i-microdeletion' ebesithethe ngayo ngaphambili.
• Ulandelelwano lweejini: Oku kungabona utshintsho oluncinci kwijini ye-KANSL1 ngokwayo.

Ngenxa yokuba ingengabo bonke abantwana abane-Kuhlman-de Vries syndrome (KdVS) abaneempawu ezifanayo, oogqirha banokucebisa uvavanyo olongezelelweyo ukuze baqonde ngcono imeko yomntwana. Umzekelo:

• Uvavanyo lophuhliso: Olu vavanyo luvavanya inqanaba lophuhliso lomntwana kunye nezakhono zakhe.
• I-Echocardiogram: Ihlola umsebenzi kunye nolwakhiwo lwentliziyo.
• Uvavanyo lokutya: Oku kuya kujonga naziphi na iingxaki zokutya okanye zokusela.
• I-ultrasound yezintso: Ijonga naziphi na iingxaki zezintso.
• Iskeni seMagnetic Resonance Imaging (MRI): Sithatha imifanekiso eneenkcukacha zezitho zangaphakathi, ezifana nobuchopho.
• Ii-X-reyi: Ukukhangela iingxaki ngamathambo, njenge-scoliosis.

Akuyena wonke umntu omele enze zonke ezi vavanyo. Oogqirha bagqiba ukuba zeziphi iimvavanyo ekufuneka zenziwe ngokusekelwe kwiimpawu neemfuno zomntwana.

Loluphi unyango lwe-Koolen-de Vries Syndrome?

Okwangoku akukho nyango lweKoolen-de Vries Syndrome. Oku kungenxa yokuba yimeko yemfuza. Nangona kunjalo, kukho iindlela ezahlukeneyo zonyango kunye neendlela zokulawula ezinokunceda umntwana ukuba alawule iimpawu zakhe, aphucule umgangatho wobomi bakhe, kwaye amncede aphuhle ngokupheleleyo. Olu nyango lwenzelwe iimfuno zomntwana.

Iindlela zonyango

Oogqirha badla ngokucebisa iintlobo ezahlukeneyo zonyango:

• Unyango lomsebenzi: Oku kunceda umntwana aphuhlise izakhono zomzimba ezintle (umz., ukuqhobosha amaqhosha, ukubhala) kunye nezakhono zomzimba ezipheleleyo (umz., ukubaleka nokutsiba) ezifunekayo ukwenza imisebenzi yemihla ngemihla.
• Unyango lomzimba: Ingcali yonyango lomzimba inceda ukuqinisa izihlunu zomntwana, ukuphucula ulungelelwano, kunye nokwenza kube lula ukuhambahamba okufana nokuhamba. Oku kubaluleke kakhulu kubantwana abanesimo esibizwa ngokuba yi-"hypotonia."
• Unyango lokuthetha: Oku kunceda ukoyisa ubunzima bokuthetha nokuveza izimvo. Iingcali zonyango lwentetho zisebenzisa iindlela ezahlukeneyo ezifana nemifanekiso, ulwimi lwezandla, kunye nezixhobo zokuthetha.

Ezinye iindlela zonyango kunye nokungenelela

Ngokuxhomekeke kwiimpawu zomntwana, unyango olongezelelweyo lunokufuneka:

• Amayeza okuthintela ukuxhuzula: Abantwana abanesifo sokuxhuzula kufuneka banikwe amayeza okulawula isifo sabo.
• Ukubekwa kwetyhubhu yokondla xa kukho iingxaki zesondlo: Abantwana abanengxaki yokuginya okanye yokufunxa ukutya nokusela banokufuna ukuba ityhubhu yokondla ifakwe ngempumlo okanye esiswini ngqo esiswini ukuze bafumane izondlo ezifunekayo.
• Utyando: Utyando lunokufuneka kwiimeko ezifana ne-scoliosis okanye amasende angaphakamanga.

Imfundo kunye nenkxaso

Abantwana banokufuna amanqanaba ahlukeneyo enkxaso xa kufikwa ekufundeni. Abanye abantwana baphumelela kakuhle kwizikolo eziqhelekileyo, ngelixa abanye befuna uncedo olukhethekileyo lwemfundo . Kubaluleke kakhulu ukudala indawo yokufunda ehambelana nezakhono neemfuno zomntwana.

Ingakanani iminyaka yokuphila yabantu abaneKoolen-de Vries Syndrome?

Abaphandi abanakutsho ngokuqinisekileyo ukuba lingakanani ixesha lokuphila kwabantu abanale meko. Ngenxa yokuba inqabile, kusekho izifundo ezimbalwa ezithatha ixesha elide ngayo. Nangona kunjalo, ngokusekelwe kulwazi lwangoku, kulindeleke ukuba abantu abanale meko baphile bade babe ngabantu abadala .

Yintoni endimele ndiyilindele ukuba umntwana wam une-Kuhl-de Vries syndrome (KdVS)?

Ubomi babantwana abaneKoolen-de Vries Syndrome bunokwahluka kakhulu ngokuxhomekeke kubukhali beempawu zabo. Umntwana wakho unokufuna ukubona oogqirha abahlukeneyo aze aye kwiikliniki rhoqo. Unyango kunye namayeza anokuba yinxalenye ebalulekileyo yobomi bakhe. Kwakhona, abanye abantwana abanale meko banokungadingi kubona oogqirha okanye bafumane unyango rhoqo njengabanye.

Eyona nto ibalulekileyo kukukhumbula ukuba awuwedwa. Oogqirha kunye neengcali zonyango zomntwana wakho bakunye nawe kuyo yonke inyathelo.

Ungamnceda umntwana wakho afumane inkxaso ayidingayo esikolweni. Oku kungabandakanya iiklasi ezikhethekileyo okanye utitshala . Thetha nootitshala bomntwana wakho kunye namagosa esikolo ukuze umncede afumane izixhobo azidingayo. Umzekelo, ukuba umntwana wakho uneengxaki zokuthetha, qiniseka ukuba usebenza nengcali yezonyango.

Abantu abadala abane-Kuhlman-de Vries Syndrome (KdVS) badla ngokufumana kunzima ukuphila ngokuzimela. Le yinto ekufuneka ihlolwe kunye nabanakekeli babo kunye noogqirha, kuxhomekeke kwimeko yomntu ngamnye.

Xa ufumanisa ukuba umntwana wakho une-Kuhlman-de Vries Syndrome (KdVS), kuyinto eqhelekileyo ukuva iimvakalelo ezahlukeneyo, kuquka usizi, ixhala, mhlawumbi nomsindo. Akulula ukujongana nezo mvakalelo. Kodwa, ndifuna ukukukhumbuza ukuba awuwedwa. Oogqirha bomntwana wakho, abahlengikazi, kunye neengcali zonyango baya kukunceda kolu hambo. Ukususela ekuxilongweni ukuya kunyango, bazimisele ukukunceda ulawule imeko yomntwana wakho kwaye bancede umntwana wakho aphile ubomi obungcono.

Okokugqibela, umyalezo oya ekhaya

• I-Koolen-de Vries Syndrome yimeko engaqhelekanga yemfuza. Ibangelwa kukuguquka kwejini ye-`KANSL1` kwi-chromosome 17.
• Ukulibaziseka kokukhula, ukukhubazeka kwengqondo, kunye neempawu zobuso ezahlukileyo zezinye zeempawu eziphambili zale meko.
• Aba bantwana badla ngokuba nobubele kwaye banobuhlobo .
• Nangona kungekho nyango luthile, kukho iindlela ezahlukeneyo zonyango kunye nonyango lokulawula iimpawu kunye nokuphucula umgangatho wobomi .
• Ukuchonga umntwana kwangethuba kunye nokungenelela okufunekayo kubaluleke kakhulu ekuphuhlisweni kwakhe.
• Ukuba umntwana wakho unale meko, eyona nto ibalulekileyo kukulandela iingcebiso zonyango, umbonelele ngonyango olufanelekileyo, kwaye umnike uthando nenkxaso eyaneleyo umntwana wakho .
• Ukujoyina amaqela enkxaso kubazali babantwana abanezi meko kunokuba ngumthombo omkhulu wamandla. Ungaze ungathandabuzi ukubuza oogqirha bakho ngemibuzo kunye nezinto ezikuxhalabisayo.

Siyathemba ukuba olu lwazi lukuncede ukuba uqonde ngakumbi ngeKoolen-de Vries Syndrome.

Isifo sikaCullen -De Vries, Izifo zofuzo, ukulibaziseka kokukhula, ukukhubazeka kwengqondo, i-KANSL1 Gene, i-Chromosome 17, impilo yomntwana