Ingabe ingane yakho inalezi zimpawu? Ake sixoxe ngePhelan-McDermid Syndrome

Wake wezwa ngePhelan-McDermid Syndrome? Cishe awukaze wezwa ngaleli gama, ngoba liyisifo esingavamile sofuzo. Lesi simo singabangela izinkinga ezahlukene zempilo, ukubambezeleka kokuthuthukiswa kwengqondo, kanye nezinguquko zokuziphatha, ikakhulukazi ezinganeni ezincane. Ngakho-ke, namuhla sizokhuluma ngakho ngendlela elula ongayiqonda. Ungakhathazeki, kubaluleke kakhulu ukwazi lolu lwazi.

Iyini i-Phelan-McDermid Syndrome?

Kalula nje, i-Phelan-McDermid syndrome iyisifo sofuzo esingabangela izinkinga ezahlukahlukene emzimbeni wengane, ekuhlakanipheni nasekuziphatheni. Isibonelo:

• Ubunzima bokudla.
• Ubuthakathaka bemisipha.
• Ukuphuza ukukhuluma kanye nezinye izigaba zokukhula.
• Ezinye izingane zinezimo ezifana ne-Autism Spectrum Disorder.
• Ngezinye izikhathi izimo ezifana nesifo sokuwa zingase zivele.

Kukhona elinye igama lalokhu, elithi ``22q13.3 deletion syndrome.'' Nakuba igama lingase libonakale liyinkimbinkimbi kancane, ake sixoxe nangalokho futhi.

Kungavamile kangakanani lesi simo?

Eqinisweni, lesi simo esibizwa ngokuthi i-Phelan-McDermid syndrome asivamile kakhulu . Ngokusho kososayensi, sithinta izingane eziphakathi kwezimbili neshumi ezinkulungwaneni eziyikhulu. Kodwa-ke, ngenxa yokuthi kunzima kancane ukusithola, kungenzeka ukuthi izingane eziningi zinalesi simo kunalokho okubikiwe. Izingane eziphakathi kuka-2200 no-2500 kuphela ezitholakale emhlabeni wonke. Ngakho ungacabanga ukuthi lokhu kungavamile kangakanani.

Iyini isixhumanisi phakathi kwe-Phelan-McDermid syndrome kanye ne-autism?

Lena inkinga abantu abaningi abanayo. Izingane eziningi ezine-Phelan-McDermid syndrome zitholakale zine -autism spectrum disorder . Ososayensi balinganisela ukuthi cishe u-1% wezingane ezine-autism nazo zingaba ne-Phelan-McDermid syndrome. Lokhu kusho ukuthi kukhona ukuxhumana phakathi kwalezi zinto ezimbili.

Kungani i-Phelan-McDermid syndrome yenzeka?

Kulungile, manje ake sibone ukuthi yini ebangela lokhu. Lokhu kubangelwa ushintsho kuma-chromosome . Ama-chromosome ayizinto ezincane ngaphakathi kwamaseli ethu. Ngaphakathi kwalawa kukhona izakhi zofuzo zethu. Izakhi zofuzo zifana nesethi yemiyalelo enquma konke kusukela endleleni umzimba wethu okufanele usebenze ngayo, kuya ekuphakameni kwethu, umbala wamehlo, kanye nezifo esingase sizithole.

Ngokuvamile, iseli ngalinye lomuntu linama-chromosome angu-23, okwenza kube nama-chromosome angu-46. Ingane ene-Phelan-McDermid syndrome inengxenye encane ye-chromosome 22 engekho, noma "esusiwe." Yingakho ibizwa nangokuthi 'i-22q13.3 deletion syndrome.'

Esikhathini esiningi, lesi simo asizuzwa njengefa kubazali. Lokhu kulahlekelwa yingcezu ye-chromosome kwenzeka ngokungahleliwe, okungukuthi, lapho kwakheka iqanda noma iseli lesidoda, noma lapho kukhula umbungu. Kodwa-ke, kwezinye izimo ezingavamile, singazuzwa njengefa kumzali. Kuleso simo, umama noma ubaba onalesi simo unethuba elingama-50% lokuthi ingane yakhe izuze lesi simo.

Ziyini izimpawu zalesi simo?

Izimpawu ze-Phelan-McDermid syndrome zingahluka kakhulu kumuntu nomuntu. Abanye abantu banezimpawu ezimbalwa, abanye banezimpawu eziningi. Ezinye izimpawu zikhona lapho bezalwa, kanti ezinye zivela ebuntwaneni noma ebuntwaneni bokuqala. Lezi zimpawu zingaba ngokomzimba, ngokokuziphatha, ngokwengqondo, noma inhlanganisela yazo zonke lezi zinto.

Ingane yakho ingaba nezimpawu ezifana nalezi:

• Ukulibaziseka kokukhula : Izinto ezifana nokungaguquguquki, ukungahlali, ukungahambi. Cabanga ngakho, ezinye izingane ziqala ukuguquki zinezinyanga eziyi-6, ezinye zihlala phansi zinezinyanga eziyi-9. Kodwa ingane enalesi simo ingathatha isikhathi eside ukwenza lezi zinto.
• Ukwanda kokubekezelela ubuhlungu : Lokhu kusho ukuzwa ubuhlungu obuncane kunabanye.
• Ubuthakathaka bemisipha (hypotonia) : Umzimba ungase uzizwe ubuthakathaka futhi ubuthakathaka.
• Izinkinga zokukhuluma : Ukukhuluma okulibazisekile noma ukungakwazi ukukhuluma.
• Izinkinga zokulala : Ubunzima bokulala, njengokuvuka njalo.
• Ukujuluka okungaphansi kokujwayelekile : Lokhu kungabangela ukuthi umzimba ushise kakhulu ngokushesha futhi uphelelwe amanzi emzimbeni.
• Ubunzima bokudla noma ukugwinya .
• Izinkinga zesistimu yokugaya ukudla : Ukucanuzela kwenhliziyo okuvamile, ukuhlanza, kanye nesilungulela (isifo se-gastroesophageal reflux).

Abantu abaningi abane-Phelan-McDermid syndrome nabo banesifo se-autism spectrum disorder, ngakho-ke bangase babe nezimpawu zokuziphatha ezifana nalezi:

• Ukubheka emehlweni kuwubuthakathaka .
• Ukuzizwa wesaba futhi ukhathazekile ezimweni zomphakathi .
• Intshisekelo yokuhlafuna izinto ezingezona ukudla (isib. amathoyizi, izingubo).
• Ukuzwela okukhulu ekuthinteni : Ukuzizwa ungakhululekile uma othile ekuthinta.

Ezinye izici ezikhethekile zingabonakala nasekubukekeni kwabantu abanalesi simo:

• Amehlo atshonile.
• Ijwabu leso eligobile (i-ptosis).
• Izindlebe ezinkulu noma eziphuma phambili.
• Izinzwane zesibili nezesithathu zingase zibonakale zihlangene (ngokuhambisana ne-syndactyly).
• Ukuba nezandla noma izinyawo ezinkulu, ezinemisipha.
• Ikhanda lide futhi lincane ngesimo.
• Isilevu siba nesimo esiqondile.
• Izinzipho ezincane noma ezingavamile zezinyawo.

Ngezinye izikhathi lesi simo sihambisana nesifo senhliziyo esizalwa naso kanye nezinkinga zezinso.Akuvamile kakhulu ukuthi laba bantwana bakhule amasaka agcwele uketshezi (ama-arachnoid cysts) ebuchosheni babo. Lokhu kungabangela ukucindezeleka okukhulu ngaphakathi kwekhanda, okubangela ukungaphumuli, ukukhala, ikhanda elibuhlungu kanye nesifo sokuwa.

Lesi sifo sitholakala kanjani?

Ngenxa yokuthi izimpawu ze-Phelan-McDermid syndrome ngezinye izikhathi azicacile, kungaba nzima ukuzibona. Ingane yakho kungadingeka ihlolwe kaningana ngaphambi kokuba ithole ukuxilongwa okunembile. Udokotela angenza izinto ezinjengalezi:

• Ukuhlolwa ngokomzimba kwengane.
• Ukubuza ngomlando wezokwelapha wengane mayelana nezimpawu kanye nokubambezeleka kokukhula.
• Buza ngomlando wezokwelapha womndeni ukuze ubone ukuthi ukhona yini emndenini oke waba nalesi simo.
• Cela ukuhlolwa kwezakhi zofuzo . Lokhu kuvame ukuhilela ukuthatha isampula encane yegazi. Lokhu kungasetshenziswa ukubona ukuthi ingxenye ye-chromosome okukhulunywa ngayo ayikho yini.

Ezimweni ezingavamile kakhulu, lesi simo singase singabangelwa yi-chromosome engekho. Kunalokho, singase sibangelwe ushintsho ku-gene ebizwa ngokuthi `SHANK3`. Uma kungatholakali ukususwa kwe-chromosome, udokotela wakho angase futhi asikisele ukuthi kuhlolwe le-gene.

Uma ukuhlolwa kuqinisekisa isimo esithi `22q13.3 deletion syndrome`, udokotela angase aphakamise okunye ukuhlolwa okuningana:

• Ukuhlolwa kofuzo kwabazali bobabili : Bheka ukuthi lokhu kuyinto ezuzwe njengefa noma eyenzeka ngokungahleliwe.
• Ukuskena kobuchopho bengane nge-MRI (Magnetic Resonance Imaging) noma i-CT (Computed Tomography) : Ukubona ukuthi zikhona yini izinto ezifana ne-arachnoid cyst eshiwo ngenhla.
• I-ultrasound yezinso : Ukuhlola amaphutha ezinso.
• I-Echocardiogram : Ukuhlola ukukhubazeka kwenhliziyo.
• Ukuhlolwa kokuzwa.
• Ukuhlolwa kwamehlo okuningiliziwe.
• Ucwaningo lokulala.

Ingabe ikhona ikhambi eliphelele lalokhu?

Eqinisweni, okwamanje alikho ikhambi le-Phelan-McDermid syndrome. Umgomo oyinhloko wokwelashwa ukulawula izimpawu zengane, ukuzisiza zisebenze kahle ngangokunokwenzeka, nokuvimbela noma yiziphi izinkinga ezingase zivele.

Ithimba lokunakekela ingane yakho lingafaka ochwepheshe abahlukahlukene, okuhlanganisa:

• Udokotela wenhliziyo
• Udokotela Wesisu
• Udokotela Wezinzwa
• Udokotela wezinzwa
• Uchwepheshe wezokwelapha emsebenzini: Umuntu osiza abantu ukwenza imisebenzi yansuku zonke efana nokudla nokubhala.
• Udokotela wamathambo (uchwepheshe wamathambo namalunga)
• Udokotela wezokwelapha ngokomzimba: Umuntu osiza ekuqiniseni izingxenye zomzimba ezithintekile.
• Isazi sezifo zokukhuluma/zolimi
• Udokotela we-Endocrinologist

Khumbula, bonke laba ochwepheshe basebenzisana ukuze banikeze ingane yakho ukunakekelwa okungcono kakhulu.

Ingabe lesi simo singavinjelwa?

Uma umuntu etholakale enalesi simo, okwamanje ayikho indlela yokulungisa izinguquko zofuzo. Kodwa-ke, esimweni esingavamile lapho omunye wabazali naye enalesi simo, kunezikhathi lapho ubuchwepheshe be-IVF noma ukuhlolwa kokukhulelwa kungasetshenziswa ukuvimbela ukuthi kwenzeke ezinganeni zesikhathi esizayo.

Uma wena noma othile emndenini wakho enalesi simo, kubaluleke kakhulu ukukhuluma nodokotela noma umeluleki wezakhi zofuzo . Bangakuchazela ukuthi kungenzeka kangakanani ukuthi izingane zakho zizuze lesi simo njengefa.

Liyoba njani ikusasa uma ingane yami inalesi simo?

Lokhu akufani kuwo wonke umntwana. Kuya ngohlobo lokukhubazeka ingane enalo nokuthi kukhulu kangakanani.

Imiphumela yalesi simo ayivamile ukuba yingozi empilweni. Kodwa-ke, abantu abaningi abanalesi simo bangadinga ukunakekelwa kwezokwelapha impilo yabo yonke kanye nokusekelwa okuqhubekayo komphakathi. Ngakho-ke, uthando, ukuqonda, kanye nokusekelwa kwamalungu omndeni kubaluleke kakhulu kulezi zingane.

Unakekela kanjani umntwana onje?

Kubalulekile ukuyisa ingane yakho kuyo yonke imihlangano yochwepheshe ukuze uthuthukise amakhono ayo. Njengoba ingane yakho ingase ibe nekhono eliphansi lokujuluka, qaphela okulandelayo:

• Gwema ukushisa okweqile .
• Nika ingane amanzi amaningi okuphuza (vimbela ingane ukuthi ingabi namanzi emzimbeni).
• Vikela elangeni eliqondile .

Ngenxa yokuthi abantu abaningi abane-Phelan-McDermid syndrome bayakwazi ukubekezelela ubuhlungu obukhulu kanye nobunzima bokukhuluma ngokungakhululeki kwabo, qaphela izimpawu zokuthi ingane yakho ibuhlungu . Uma ubona noma yikuphi kwalokhu, shayela udokotela wakho. Bangakusiza ukuthi ubone ukuthi ingane yakho ibuhlungu esiswini noma okunye. Izimpawu zobuhlungu zingafaka:

• Ukuzola kunokujwayelekile, ukungathandi ukuhlangana nabantu.
• Ukuphefumula ngokushesha kunokujwayelekile.
• Ukukhala noma ukungahlaliseki kakhulu kunokujwayelekile.
• Ukubamba ngokuqinile embhedeni noma ezintweni eziseduze.
• Ukugcina umzimba, izingalo, nemilenze kuqinile futhi kunganyakazi.
• Ukubonakaliswa kobuhlungu ebusweni (isib., ukuvala amehlo ngokuqinile, ukusunduza izindebe).
• Ukukhala noma ukuklabalasa.

Yini enye ongayibuza udokotela?

Uma ingane yakho ine-Phelan-McDermid syndrome, ungabuza udokotela le mibuzo:

• Ingabe lokhu kususwa kwama-chromosome kuzuzwe njengefa noma kwenzeke ngengozi?
• Ingabe ingane yami inezinkinga ezifana nokuvuvukala kwenhliziyo, kwezinso, noma ebuchosheni?
• Ukukhubazeka kwengqondo kwengane yami kuyithinta kangakanani?
• Hlobo luni lochwepheshe okufanele ingane yami ilubone? Kangaki?
• Ingabe akhona amaqembu okusekelana angasisiza siphile nalesi simo?
• Ingabe uncoma ukwelulekwa ngofuzo?
• Ingabe wonke umndeni wethu kufanele uhlolwe izakhi zofuzo?

Ekugcineni, kufanele ngithi...

I-Phelan-McDermid Syndrome iyisimo esingavamile sofuzo. Singabangela ukubambezeleka kokukhuluma nokukhula, kanye nokuphazamiseka kwe-autism spectrum. Uma othile emndenini wakho etholakale enalesi sifo sokususwa kwama-chromosome, ungesabi . Ithimba lochwepheshe lingakusiza wena nengane yakho. Imigomo eyinhloko lapha ukuthuthukisa ukusebenza kwengane yakho, ukuvimbela izinkinga ezingaba khona, kanye nokunikeza ukwelulekwa ngofuzo uma kudingeka. Awuwedwa , futhi baningi abantu abangakusiza kulolu hambo.

I- Phelan-McDermid Syndrome, i-Phelan-McDermid Syndrome, Isifo Sofuzo, i-Chromosome, i-Autism, Ukulibaziseka Kokukhula, i-SHANK3