Ngaba umntwana wakho unazo ezi mpawu? Masithethe ngePhelan-McDermid Syndrome

Ngaba wakha weva ngePhelan-McDermid Syndrome? Mhlawumbi awukaze uve ngeli gama, kuba yimeko engaqhelekanga yemfuza. Le meko inokubangela iingxaki ezahlukeneyo zempilo, ukulibaziseka kophuhliso lwengqondo, kunye notshintsho lokuziphatha, ingakumbi kubantwana abancinci. Ngoko ke, namhlanje siza kuthetha ngayo ngendlela elula onokuyiqonda. Ungakhathazeki, kubaluleke kakhulu ukwazi olu lwazi.

Yintoni iPhelan-McDermid Syndrome?

Ngamafutshane, i-Phelan-McDermid syndrome sisifo semfuza esinokubangela iingxaki ezahlukeneyo emzimbeni womntwana, engqondweni yakhe, nakwindlela aziphethe ngayo. Umzekelo:

• Ubunzima bokutya.
• Ubuthathaka bemisipha.
• Ukulibaziseka ekuthetheni kunye nezinye izinto ezibalulekileyo ekuphuhliseni.
• Abanye abantwana baneengxaki ezifana ne-Autism Spectrum Disorder.
• Ngamanye amaxesha iimeko ezifana nesifo sokuwa zinokwenzeka.

Kukho elinye igama lale nto, eliyi-``22q13.3 deletion syndrome.'' Nangona eli gama lisenokubonakala liyinkimbinkimbi kancinci, masithethe ngalo.

Ingaba le meko inqabile kangakanani?

Enyanisweni, le meko ibizwa ngokuba yiPhelan-McDermid syndrome ayiqhelekanga kakhulu . Ngokutsho kwezazinzulu, ichaphazela abantwana abaphakathi kwababini ukuya kwabalishumi kwikhulu lamawaka. Nangona kunjalo, ngenxa yokuba kunzima ukuyixilonga, kusenokwenzeka ukuba abantwana abaninzi banale meko kunaleyo ibikiweyo. Kuphela phakathi kwabantwana abangama-2200 nama-2500 abaye baxilongwa kwihlabathi liphela. Ngoko ke unokucinga ukuba oku kunqabile kangakanani.

Yintoni edibanisa iPhelan-McDermid syndrome kunye ne-autism?

Le yingxaki abantu abaninzi abanayo. Abantwana abaninzi abane-Phelan-McDermid syndrome bafunyaniswe bene- autism spectrum disorder . Izazinzulu ziqikelela ukuba malunga ne-1% yabantwana abane-autism basenokuba ne-Phelan-McDermid syndrome. Oku kuthetha ukuba kukho unxibelelwano phakathi kwezi zimbini.

Kutheni i-Phelan-McDermid syndrome isenzeka?

Kulungile, ngoku masibone ukuba yintoni ebangela oku. Oku kubangelwa kukutshintsha kwee-chromosomes . Ii-chromosomes zizinto ezincinci ngaphakathi kweeseli zethu. Ngaphakathi kwezi zi-genes zethu. Ii-genes zifana neseti yemiyalelo echaza yonke into ukususela kwindlela umzimba wethu omele usebenze ngayo, ukuya kubude bethu, umbala wamehlo, kunye nezifo esinokuzifumana.

Ngokwesiqhelo, iseli nganye yomntu inee-chromosomes ezingama-23, nto leyo eyenza ukuba zibe ngama-chromosomes angama-46 xa zizonke. Umntwana one-Phelan-McDermid syndrome uneqhekeza elincinci le-chromosome 22 elingekhoyo, okanye "elisusiweyo." Yingakho ikwabizwa ngokuba yi-`22q13.3 deletion syndrome.'

Uninzi lwexesha, le meko ayizuzwa ngabazali. Oku kulahleka kweqhekeza le-chromosome kwenzeka ngokungacwangciswanga, oko kukuthi, xa kwakheka iqanda okanye iseli yesidoda, okanye xa kukhula i-embryo. Nangona kunjalo, kwezinye iimeko ezingaqhelekanga, inokufunyanwa ngabazali. Kwimeko enjalo, umama okanye utata onesi sifo unethuba elimalunga ne-50% lokuba umntwana wakhe azuze esi sifo.

Zithini iimpawu zale meko?

Iimpawu zesifo iPhelan-McDermid zinokuhluka kakhulu kumntu nomntu. Abanye abantu baneempawu ezimbalwa, abanye baneempawu ezingaphezulu. Ezinye iimpawu zibakho xa bezalwa, ngelixa ezinye zivela ebuntwaneni okanye ebuntwaneni. Ezi mpawu zinokuba zezomzimba, zokuziphatha, zengqondo, okanye indibaniselwano yazo zonke ezi zinto.

Umntwana wakho usenokuba neempawu ezifana nezi:

• Ukulibaziseka kokukhula : Izinto ezifana nokungaqengqeleki, ukungahlali, ukungahambi. Cinga ngako, ezinye iintsana ziqala ukuqengqeleka kwiinyanga ezi-6, ezinye zihlala kwiinyanga ezi-9. Kodwa umntwana onesi sifo unokuthatha ixesha elide ukwenza ezi zinto.
• Ukunyamezela iintlungu okwandileyo : Oku kuthetha ukuziva iintlungu ezincinci kunabanye.
• Ubuthathaka bemisipha (hypotonia) : Umzimba usenokuziva utyhafile kwaye utyhafile.
• Iingxaki zokuthetha : Ukulibaziseka kokuthetha okanye ukungakwazi ukuthetha.
• Iingxaki zokulala : Ubunzima bokulala, njengokuvuka rhoqo.
• Ukubila okungaphantsi kwesiqhelo : Oku kunokubangela ukuba umzimba ushushu kakhulu ngokukhawuleza uze uphelelwe ngamanzi emzimbeni.
• Ubunzima bokutya okanye bokuginya .
• Iingxaki zenkqubo yokugaya ukutya : Ukucaphuka rhoqo, ukuhlanza, kunye nentliziyo ebuhlungu (isifo se-gastroesophageal reflux).

Abantu abaninzi abane-Phelan-McDermid syndrome nabo bane-autism spectrum disorder, ngoko ke banokufumana iimpawu zokuziphatha ezifana nezi:

• Ukujonga emehlweni bubuthathaka .
• Ukuziva usoyika kwaye uxhalabile xa uphakathi kwabantu .
• Umdla wokuhlafuna izinto ezingezizo ezokutya (umz. izinto zokudlala, iimpahla).
• Uvakalelo oluphezulu xa uchukumisa : Uziva ungakhululekanga xa umntu ekuchukumisa.

Ezinye iimpawu ezikhethekileyo zinokubonwa nakwinkangeleko yabantu abanale meko:

• Amehlo atshonile.
• Ijwabu eligobileyo (i-ptosis).
• Iindlebe ezinkulu okanye eziphuma phambili.
• Iinzwane zesibini nezesithathu zinokubonakala ngathi zidibene (nge-syndactyly).
• Ukuba nezandla okanye iinyawo ezinkulu nezinemisipha.
• Intloko inde kwaye incinci ngokwemilo.
• Isilevu siba nemilo etsolo.
• Iinzipho zeenyawo ezincinci okanye ezingaqhelekanga.

Ngamanye amaxesha le meko ihamba nesifo sentliziyo esizalwa naso kunye neengxaki zezintso.Amaxesha amaninzi, aba bantwana banokukhula iingxowa ezizaliswe lulwelo (ii-arachnoid cysts) ebuchotsheni babo. Ezi zinokubangela uxinzelelo oluphezulu ngaphakathi entlokweni, okubangela ukungazinzi, ukukhala, iintloko ezibuhlungu, kunye nokuxhuzula.

Sifunyaniswa njani esi sifo?

Ngenxa yokuba iimpawu ze-Phelan-McDermid syndrome ngamanye amaxesha azibonakali kakuhle, kunokuba nzima ukuzibona. Umntwana wakho unokufuna ukuphononongwa izihlandlo ezininzi ngaphambi kokuba afumane ukuxilongwa ngokuchanekileyo. Ugqirha unokwenza izinto ezinje:

• Ukuhlolwa komzimba komntwana.
• Ukubuza ngembali yezonyango yomntwana malunga neempawu kunye nokulibaziseka kokukhula.
• Buza ngembali yezonyango yosapho ukuze ubone ukuba kukho nabani na kusapho okhe waba nale meko.
• Cela uvavanyo lwemfuza . Oku kudla ngokubandakanya ukuthatha isampuli yegazi elincinci. Oku kungasetyenziselwa ukubona ukuba iqhekeza le-chromosome elikhankanyiweyo alikho na.

Kwiimeko ezingaqhelekanga kakhulu, le meko isenokungabangelwa yi-chromosome engekhoyo. Endaweni yoko, isenokubangelwa lutshintsho kwi-gene ebizwa ngokuba yi-`SHANK3`. Ukuba akukho kususwa kwe-chromosome kufunyenweyo, ugqirha wakho unokucebisa ukuba kuvavanywe le gene.

Ukuba iimvavanyo ziqinisekisa imeko ethi `22q13.3 deletion syndrome`, ugqirha unokucebisa ezinye iimvavanyo ezininzi:

• Uvavanyo lwemfuza lwabazali bobabini : Jonga ukuba le yinto ezuzwe njengelifa okanye yinto eyenzeka ngokungacwangciswanga.
• Iskeni se-MRI (Magnetic Resonance Imaging) okanye i-CT (Computed Tomography) yengqondo yomntwana: Ukubona ukuba kukho naziphi na izinto ezifana ne-arachnoid cyst ekhankanyiweyo ngaphambili.
• I-ultrasound yezintso : Ukujonga iziphene zezintso.
• I-Echocardiogram : Ukujonga iingxaki zentliziyo.
• Uvavanyo lokuva.
• Uvavanyo lwamehlo oluneenkcukacha.
• Isifundo sokulala.

Ngaba ikho indlela epheleleyo yokunyanga oku?

Enyanisweni, okwangoku akukho nyango lwe-Phelan-McDermid syndrome. Injongo ephambili yonyango kukulawula iimpawu zomntwana, ukubanceda basebenze kakuhle kangangoko kunokwenzeka, kunye nokuthintela naziphi na iingxaki ezinokuvela.

Iqela lokunyamekela umntwana wakho lingabandakanya iingcali ezahlukeneyo, kuquka:

• Ingcali yentliziyo
• Ingcali yezifo zesisu
• Ingcali yezifo ze-nephrological
• Ingcali yezifo zengqondo
• Ingcali yonyango lomsebenzi: Umntu onceda abantu ukuba benze imisebenzi yemihla ngemihla efana nokutya nokubhala.
• Ingcali yamathambo (ingcali yamathambo namalungu)
• Ingcali yezonyango: Umntu onceda ekuqiniseni amalungu omzimba achaphazelekileyo.
• Ingcali yezifo zentetho/ulwimi
• Ingcali ye-Endocrinologist

Khumbula, zonke ezi ngcali zisebenza kunye ukubonelela ngononophelo olungcono kumntwana wakho.

Ngaba le meko ingathintelwa?

Xa umntu efunyenwe enale meko, okwangoku akukho ndlela yokulungisa utshintsho lwemfuza. Nangona kunjalo, kwiimeko ezingaqhelekanga apho omnye wabazali naye enale meko, kukho amaxesha apho ubuchwepheshe be-IVF okanye uvavanyo lokukhulelwa lunokusetyenziswa ukuthintela ukuba ingenzeki kubantwana bexesha elizayo.

Ukuba wena okanye umntu osapho lwakho unale meko, kubaluleke kakhulu ukuthetha nogqirha okanye umcebisi wezemfuza . Banokukuchazela ukuba kunokwenzeka kangakanani ukuba abantwana bakho bafumane le meko njengelifa.

Liza kuba njani ikamva ukuba umntwana wam unale meko?

Oku akufani kuwo wonke umntwana. Kuxhomekeke kuhlobo lokukhubazeka umntwana analo kunye nokuba yingozi kangakanani.

Iziphumo zale meko azifane zibe yingozi ebomini. Nangona kunjalo, abantu abaninzi abanale meko banokufuna unyango lobomi bonke kunye nenkxaso yoluntu eqhubekayo. Ke ngoko, uthando, ukuqonda, kunye nenkxaso yamalungu osapho kubaluleke kakhulu kwaba bantwana.

Ungayinyamekela njani umntwana onjalo?

Kubalulekile ukumsa umntwana wakho kwintlanganiso nganye yogqirha ukuze aphucule izakhono zakhe. Ekubeni umntwana wakho esenokuba nengxaki yokubila kancinci, qaphela oku kulandelayo:

• Kuphephe ubushushu obugqithisileyo .
• Nika umntwana amanzi amaninzi okusela (mgcine engomi amanzi emzimbeni).
• Khusela elangeni elithe ngqo .

Ngenxa yokuba abantu abaninzi abane-Phelan-McDermid syndrome bayakwazi ukunyamezela iintlungu kwaye kunzima ukuxelela abantu ukuba bangonwabanga, khangela iimpawu zokuba umntwana wakho uneentlungu . Ukuba ubona nayiphi na kwezi, fowunela ugqirha wakho. Banokukunceda ubone ukuba umntwana wakho uneentlungu zesisu okanye enye into. Iimpawu zentlungu zingabandakanya:

• Ukuba nomsindo kunesiqhelo, ukungathandi ukunxibelelana nabantu.
• Ukuphefumla ngokukhawuleza kunesiqhelo.
• Ukulila okanye ukungaphumli kakhulu kunesiqhelo.
• Ukubamba ngokuqinileyo izinto zokulala okanye izinto ezikufutshane.
• Ukugcina umzimba, iingalo, kunye nemilenze ziqinile kwaye zingashukumi.
• Ukubonakaliswa kwentlungu ebusweni (umz., ukuvala amehlo ngokuqinileyo, ukuchukumisa imilebe).
• Ukukrwitsha okanye ukukhwaza.

Yintoni enye onokuyibuza ugqirha?

Ukuba umntwana wakho unePhelan-McDermid syndrome, ungambuza ugqirha le mibuzo:

• Ingaba oku kususwa kwe-chromosome kuzuzwe njengelifa okanye yinto eyenzeka ngokungacwangciswanga?
• Ngaba umntwana wam uneengxaki ezifana nentliziyo, izintso, okanye ii-cysts zobuchopho?
• Ingaba ukukhubazeka kwengqondo komntwana wam kumchaphazela kangakanani?
• Luhlobo luni lweengcali umntwana wam afanele azibone? Kangaphi?
• Ngaba kukho amaqela enkxaso anokusinceda siphile nale meko?
• Ngaba ucebisa iingcebiso ngemfuza?
• Ngaba intsapho yethu yonke kufuneka ivavanywe ngokwemfuza?

Okokugqibela, ndimele ndithi...

I-Phelan-McDermid Syndrome yimeko engaqhelekanga yemfuza. Inokubangela ukulibaziseka kokuthetha nokukhula, kunye ne-autism spectrum disorder. Ukuba kukho umntu kusapho lwakho ofunyaniswe enale chromosomal deletion syndrome, ungoyiki . Iqela leengcali linokukunceda wena nomntwana wakho. Iinjongo eziphambili apha kukuphucula ukusebenza komntwana wakho, ukuthintela iingxaki ezinokubakho, kunye nokubonelela ngengcebiso yemfuza ukuba kuyimfuneko. Awuwedwa , kwaye baninzi abantu abanokukunceda kolu hambo.

Isifo sikaPhelan-McDermid, Isifo sikaPhelan-McDermid, Isifo seMfuzo, iChromosome, i-Autism, ukuLibaziseka koPhuhliso, iSHANK3