Ukhathazekile ngentuthuko yengane yakho? Ake sifunde nge-Lamb-Shaffer Syndrome!

Ingabe ngezinye izikhathi uzizwa sengathi ingane yakho isalele emuva kancane ekukhuleni kwayo? Noma ucabanga ukuthi yephuza ukuqala ukukhuluma? Ngezinye izikhathi, kuyinto evamile ngathi njengabazali ukukhathazeka kancane uma sibona izinto ezinjengalezi. Namuhla, sizokhuluma ngesimo esingavamile kakhulu sofuzo esibonisa ezinye zalezi zimpawu. Sibizwa ngokuthi i-Lamb-Shaffer Syndrome.

Iyini i-Lamb-Shaffer Syndrome?

Kalula nje, i-Lamb-Shaffer Syndrome (LAMSHF) yisimo esingavamile kakhulu sofuzo. Uma uzwa igama elithi 'genetic', ungase ucabange, "O, ingabe lokhu kuyinto eyenzeka emndenini?" Ake sixoxe ngalokho kuqala. Lesi simo singabangela ukubambezeleka kokukhula kwengane. Lokhu kusho ukuthi kuthatha isikhathi ukuthi ingane ihlale phansi futhi ihambe. Kungabangela nokukhubazeka kokukhuluma kanye nokukhubazeka kwengqondo . Ezinye izingane zingase zibe nokwehluka kokuziphatha . Isibonelo, zingase zibe matasa kancane noma zibe nobunzima bokunaka. Hhayi lokho kuphela, kodwa ngezinye izikhathi ungase ubone nezinguquko ezincane esimweni sobuso noma ngisho nezinguquko ezithile ohlelweni lwamathambo. Kodwa-ke, akuzona zonke lezi zici ezenzeka kuyo yonke ingane, futhi zingase zihluke kuye ngengane.

Lokhu kubizwa ngokuthi 'iLamb-Shafer' ngemuva kwabacwaningi ababili abathola lesi simo okokuqala ngo-2012. Kusukela ngaleso sikhathi, kuye kwenziwa ucwaningo olwengeziwe kanye nolwazi ngale ndaba.

Kodwa, uma ubuza ukuthi lokhu kuvame kangakanani, empeleni kunzima kodokotela ukusho ngqo. Ngoba akuvamile kakhulu . Kuze kube manje, kube namacala angaphansi kwe-100 alolu hlobo aqoshwe kumarekhodi ezokwelapha emhlabeni jikelele. Ngakho-ke akumangazi uma ungakaze uzwe ngalokhu ngaphambili.

Yini ebangela lesi simo? (Ake sifunde nge-SOX5 gene)

Kulungile, ake sibone ukuthi kungani kwenzeka le Lamb-Schafer Syndrome (LAMSHF). Njengoba ngishilo ngaphambili, lokhu kuyisifo sofuzo . Kunezakhi zofuzo kuwo wonke amaseli emzimbeni wethu. Lezi zakhi zofuzo azizona nje kuphela ezinquma ukuphakama kwethu, umbala, kanye nokuthungwa kwezinwele, kodwa futhi zisiza ukulawula imisebenzi ehlukahlukene emzimbeni wethu. Kufana nohlelo olukukhompyutha.

I-Lamb-Schafer syndrome ibangelwa ushintsho (ukuguquka) ku-gene ethile emzimbeni wethu. Le gene ibizwa ngokuthi i-'SOX5' gene . Ngokuvamile, umuntu ophilile unamakhophi amabili ale gene 'SOX5' emzimbeni wakhe, futhi womabili asebenza kahle. Kodwa-ke, umuntu one-Lamb-Schafer syndrome une-pathogenic variant kukhophi eyodwa yale gene 'SOX5'., okusho ukuthi kukhona ushintsho oluyingozi. Ngisho noma enye ikhophi ijwayelekile, kungenxa yoshintsho kulesi sakhi sofuzo esisodwa lapho kuvela khona izimpawu.

I-gene ethi `SOX5` iyi-gene ebalulekile esiza ekukhiqizweni kwamaprotheni emzimbeni wethu (ukwakheka kwamaprotheni) kanye nokulawula ukukhula kwezinhlobo ezithile zamaseli, ikakhulukazi ebuchosheni nasemzimbeni . Ngakho-ke uma kukhona iphutha kule gene, izinqubo ezihlobene nayo zingathinteka. Uyaqonda?

Izinguquko ze-De Novo nokuthi Zizuzwa Kanjani

Manje ungase uzibuze, "Ingabe lokhu kuyinto oyithola kubazali bakho?" Isikhathi esiningi, okungukuthi, iningi lezingane ezine-Lamb-Schafer syndrome linalesi simo ngenxa yokuguquka okusha (de novo mutation). Igama elithi 'De novo' lisho 'okusha'. Kalula nje, bobabili abazali bangaba namakhophi anempilo e-'SOX5' gene emaseli abo omzimba. Kodwa-ke, ngesikhathi sokukhulelwa, ukuguquka kwe-'SOX5' gene kungenzeka ngengozi esidoda noma eqandeni. Lokhu akulona iphutha lomuntu. Lokhu kuyiphutha eliqondane.

Kodwa-ke, inani elincane kakhulu (cishe u-15%) wezingane, cishe u-15 kwabayi-100, linalesi simo ngoba ambalwa kuphela amaseli egciwane (isidoda noma amaqanda) omunye wabazali anokuguqulwa kwezakhi zofuzo ze-SOX5. Lokhu kusho ukuthi amanye amaseli emzimbeni kamama noma kababa awanalo lolu guquko, ngakho labo bazali ababonisi izimpawu ze-Lamb-Schafer syndrome. Kodwa-ke, amanye kuphela amaseli egciwane lawo angaba nalolu shintsho. Lokhu kubizwa ngokuthi i-germline mosaicism. Kuyinkimbinkimbi kancane, kodwa odokotela bangachaza kabanzi ngakho.

Okungavamile kakhulu, ingane ingazuza lesi simo kumzali one-Lamb-Schafer syndrome. Uma lokho kwenzeka, leyo ngane inethuba elingu-50% lokuthola lesi simo. Lokhu kusho ukuthi ingane eyodwa kwezimbili ingaba naso, noma ingabi naso nhlobo.

Ziyini izimpawu? Uzibona kanjani?

Kulungile, manje ake sibone ukuthi yiziphi izimpawu ongase uzibone enganeni ene-Lamb-Schafer Syndrome (LAMSHF). Khumbula, akuzona zonke lezi zimpawu ezizoba khona kuyo yonke ingane, ezinye zingase zibe nezinye zezimpawu kuphela, noma ukuqina kwezimpawu kungahluka.

Ngokuvamile, izimpawu zokuqala ezibonakala ukubambezeleka ekukhulumeni nasemakhono okunyakaza komzimba. Amakhono okunyakaza komzimba ahlanganisa izinto ezifana nokuhlala phansi, ukukhasa, nokuhamba. Lokhu kungathatha isikhathi eside ukuba ingane yakho ikwenze. Izingane ezincane nazo zingase zibe nemisipha ephansi (hypotonia) , okusho ukuthi zingase zibe nomzimba obuthakathaka.

Izimpawu ezivame ukubonakala

Njengoba ingane ikhula, ungase uqaphele izimpawu ezengeziwe. Ezinye zalezi zimpawu zifaka:

• Ukukhula kwenkulumo okulibazisekile: Ezinye izingane zingase zibe nobunzima bokuxhumanisa amagama nokwakha imisho. Ezinye zingase ziqale ngisho nokukhuluma sekwephuzile kakhulu.
• Isikhathi sokunaka esifushane:Kungaba nzima ukugxila entweni eyodwa isikhathi eside. Ungaphazamiseka kalula.
• Ukungakhathali: Ubunzima bokuhlala endaweni eyodwa, kungaba nomkhuba wokugijima nokudlala njalo.
• Ukukhubazeka kwengqondo: Kungase kube nobunzima bokufunda izinto ezintsha, ukukhumbula izinto, nokuxazulula izinkinga. Izinga lalokhu liyahlukahluka kuye ngomuntu nomuntu.
• Imibono Engafani: Ngezinye izikhathi ungabona ingane yakho yenza uhlobo olufanayo lokunyakaza (njengokuqhweba izandla noma ukunikina ikhanda) ngokuphindaphindiwe. Lezi yizinto abazenzayo ngaphandle kokulawula.
• Ukuzihlukanisa nabantu: Kungase kube nokuntuleka kwesithakazelo ekuxhumaneni nabanye abantu, ekudlaleni, noma ekukhulumeni nabanye abantu.
• Ukucasuka ngentukuthelo: Ezinye izingane zinobunzima bokulawula imizwa yazo, ngakho-ke zingase zibe nokuqhuma kwentukuthelo njalo kanye nokucasuka ngentukuthelo .
• Izinkinga zamehlo: Ezinye izingane zingase zibe ne -strabismus , uhlobo lwe-cross-eye, noma amaphutha okubona izinto ngendlela engabonakali , njengokubona eduze noma i-astigmatism, okungadinga izibuko.

Akuzona zonke izingane ezinezimpawu ezilodwa noma ezimbili ezinesifo se-Lamb-Schafer, yingakho kubalulekile ukufuna iseluleko sezokwelapha.

Enye into ukuthi cishe ingane eyodwa kweziyi-10 ezine-Lamb-Schafer syndrome ingase ibe nesifo sokuwa . Kodwa akunjalo kuwo wonke umuntu.

Izinguquko ebusweni nasemzimbeni

Ezinye izingane zingase zibe nezinguquko ezithile esimweni sobuso bazo kanye namathambo omzimba. Kodwa-ke, lezi zinguquko zingase zingabonakali kakhulu, futhi zingase zibonwe udokotela kuphela.

• Impumulo ebanzi
• Ibunzi elivelele (`ukubuswa kwangaphambili`)
• Isilevu noma umhlathi omncane
• I-Strabismus (amehlo ahlanganiswe nge-cross)
• Udebe olungaphezulu oluncane noma izindebe ezigcwele ngokungajwayelekile
• Ukuhlangana okungajwayelekile kwethambo elilodwa noma ngaphezulu entanyeni
• Ukuzungeza phambili emgogodleni (kyphosis)
• Ukugoba okungajwayelekile emgogodleni wabo (i-scoliosis)

Uma izimpawu ezinjengalezi zibonakala, odokotela benza izivivinyo ezengeziwe ukuze bathole imbangela.

Ukuthola kanjani lokhu ngqo? (Ukuxilongwa)

Odokotela basebenzisa ukuhlolwa kwezakhi zofuzo ukuze bathole ukuthi ingane ine-Lamb-Schafer syndrome (LAMSHF). Isibonelo, uma ingane ibambezeleka ekukhulumeni noma ekuhambeni, noma uma kunezinguquko ezincane esimweni sobuso noma ohlelweni lwamathambo, odokotela bangase batuse lolu hlobo lokuhlolwa kwezakhi zofuzo.

Lokhu kuhlolwa kwezakhi zofuzo kuyindlela kuphela yokunquma ngokunembile ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-`SOX5` okukhulunywe ngazo ngaphambili. Lokhu kuvame ukuba ukuhlolwa okwenziwa kusampula yegazi.

Ungakwazi yini ukukubona ngesikhathi sokukhulelwa?

Esikhathini esiningi, akubona bonke abantu abahlolwa i-Lamb-Schafer syndrome ngesikhathi sokukhulelwa. Lokhu kungenxa yokuthi kuyisimo esingavamile kakhulu. Kodwa-ke, uma umama noma ilungu lomndeni eliseduze laziwa ukuthi linoguquko ku-'SOX5' gene, noma uma othile emndenini ene-Lamb-Schafer syndrome , odokotela bangase basikisele ukuhlolwa kwalesi simo ngesikhathi sokukhulelwa. Ezimweni ezinjalo, ukuhlolwa okufana ne-'(amniocentesis)' kungenziwa ngeseluleko sikachwepheshe.

Yiziphi izindlela zokwelapha?

Okwamanje akukho ukwelashwa okuqondile kwe-Lamb-Schafer syndrome (LAMSHF), okusho ukuthi ingayelapha ngokuphelele lesi sifo. Kodwa-ke, lokho akusho ukuthi asinakwenza lutho. Umgomo oyinhloko wokwelashwa ukuthuthukisa ikhwalithi yokuphila kwengane nokuyisiza ukuthi yenze imisebenzi yansuku zonke.

Lokhu kungafaka phakathi izindlela zokwelapha nezinsizakalo ezahlukahlukene. Isibonelo:

• Ukwelashwa kokuphathwa kokuziphatha: Lokhu kusiza ekunciphiseni ukuziphatha okungafanele kwengane futhi kukhuthaze ukuziphatha okuhle.
• Izinhlelo Zemfundo Ezizimele (i-IEP) noma Izinsizakalo Zemfundo Ekhethekile: Lezi zinhlelo zisiza ekuhlinzekeni ngemfundo ezinganeni zesikole ezifanela izidingo zazo zokufunda.
• Ukwelapha ngenkulumo: Lokhu kubaluleke kakhulu ezinganeni ezinezinkinga zokukhuluma ukuze zithuthukise amakhono azo okuxhumana.
• Ukwelashwa ngokomzimba: Izingane ezinezinkinga zomhlane (njenge-scoliosis kanye ne-kyphosis) zithola izivivinyo zokuthuthukisa ukuma kwazo, ukuqinisa imisipha yazo, kanye nezinsiza zokuhamba.
• Ukwelulekwa ngofuzo: Lokhu kusiza abazali ukuqonda isimo sengane, ukubazisa ngolwazi olusha, nokukhuluma namanye amalungu omndeni ngezingozi zalesi simo.
• Ukuhlolwa kwezokwelapha amehlo: Kubalulekile ukubona udokotela wamehlo ukuze welaphe izinkinga zamehlo.
• Ukuhlolwa kwe-neurological: Udokotela wezinzwa angasiza ngezinkinga ezihlobene nesimiso sezinzwa, njengokuquleka kanye nokungahambi kahle kwendlela yokuhamba.
• Ukuhlolwa kwamathambo: Izinkinga ezihlobene nohlelo lwamathambo, njenge-scoliosis, zingadinga usizo lukadokotela wamathambo.

Konke lokhu kwenzelwa ukusiza ingane ukuba iphile impilo enhle nekhululekile ngangokunokwenzeka.Ngenxa yokuthi izidingo zokwelashwa zomuntu ngamunye zingase zihluke, ithimba lodokotela lizosebenzisana ukuze linqume ukuthi yini engcono kakhulu enganeni.

Ingabe izingane zesikhathi esizayo nazo zizoba sengozini?

Uma wazi ukuthi wena noma othile emndenini wakho une-'SOX5' gene mutation, futhi ulindele omunye umntwana, kungumqondo omuhle ukubona umeluleki wezakhi zofuzo . Angakuchazela amathuba okudlulisela lesi simo ezinganeni zesikhathi esizayo, nokuthi singakuthinta kanjani wena nengane yakho uma wenza kanjalo. Lokhu kuzokusiza ukuthi wenze izinqumo ezinolwazi.

Impilo izoba njani ngalesi simo? (Umthelela wesikhathi eside)

Ngokusho kolwazi lwamanje, i-Lamb-Schafer syndrome (LAMSHF) ayibonakali ithinta isikhathi sokuphila komuntu. Lokho kuyimpumuzo encane, akunjalo? Kodwa-ke, ukuphila nalesi simo kungahlukahluka kumuntu nomuntu, ngamazinga ahlukahlukene ekhwalithi yokuphila.

Abanye abantu bangase bangakwazi ukwenza umsebenzi wabo ngokuzimela. Kuye ngamakhono abo obuhlakani, bangase badinge ukwesekwa ngumnakekeli kukho konke ukuphila kwabo. Kodwa-ke, ngokuphathwa nokusekelwa okufanele, nabo bangaphila impilo ejabulisayo nenenjongo.

Izinto okufanele uzibuze udokotela wakho

Uma unemibuzo mayelana nengane yakho noma lesi simo, ungesabi ukubuza udokotela noma umhlengikazi wakho. Ungabuza izinto ezinjengalezi:

• Ziyini izimpawu ze-Lamb-Schafer syndrome?
• Yiziphi izivivinyo okufanele ngizenze ukuze ngithole ukuthi ingane yami inalesi simo yini?
• Yiziphi izindlela zokwelapha ezikhona?
• Uma nginenye ingane, mangakanani amathuba okuthi nayo izoba nalesi simo?

Kubaluleke kakhulu ukubuza imibuzo efana nale bese uxazulula izinkinga engqondweni yakho.

Umlayezo Wokuya Nawe Ekhaya

I-Lamb-Shaffer Syndrome (LAMSHF) iyisimo esingavamile kakhulu sofuzo. Singabangela ukubambezeleka kokukhula, ukukhubazeka kwengqondo, kanye nezinguquko zobuso ezinganeni. Ezinye izingane zingase zibe nezinkinga zomhlane.

Nakuba kungekho ikhambi lalokhu, kunezindlela zokwelapha ezahlukahlukene (njengokwelashwa ngenkulumo, ukwelashwa kokuziphatha, kanye nemfundo ekhethekile) zokuthuthukisa amakhono engane kanye nekhwalithi yokuphila.

Lesi simo okwamanje kukholakala ukuthi asinawo umthelela esikhathini sokuphila. Kodwa-ke, ezinye izingane zingadinga ukunakekelwa impilo yazo yonke. Uma unokungabaza noma ukukhathazeka ngalokhu, funa iseluleko sezokwelapha ngokushesha. Yilokho okungcono kakhulu ongakwenza.

I- Lamb-Shaffer Syndrome, i-LAMSHF, i-SOX5 gene, isifo sezakhi zofuzo, ukubambezeleka kokukhula, ubunzima bokukhuluma, ukukhubazeka kwengqondo