Ngaba ukhathazekile malunga nokukhula komntwana wakho? Masifunde ngeLamb-Shaffer Syndrome!

Ngaba ngamanye amaxesha uvakalelwa kukuba umntwana wakho omncinci usemva kancinci ekukhuleni kwakhe? Okanye ucinga ukuba ukhawuleza aqale ukuthetha? Ngamanye amaxesha, kuyinto eqhelekileyo kuthi njengabazali ukuba sikhathazeke kancinci xa sibona izinto ezinje. Namhlanje, siza kuthetha ngemeko engaqhelekanga kakhulu yemfuza ebonisa ezinye zezi mpawu. Ibizwa ngokuba yiLamb-Shaffer Syndrome.

Yintoni iLamb-Shaffer Syndrome?

Ngamafutshane, iLamb-Shaffer Syndrome (LAMSHF) yimeko engaqhelekanga kakhulu yemfuza. Xa usiva igama elithi 'genetic', unokucinga, "Owu, ingaba le yinto eyenzeka kusapho?" Makhe sithethe ngaloo nto kuqala. Le meko inokubangela ukulibaziseka kokukhula komntwana. Oku kuthetha ukuba kuthatha ixesha ukuba umntwana ahlale aze ahambe. Inokubangela ukungaqheleki kokuthetha kunye nokukhubazeka kwengqondo . Abanye abantwana banokuba nomahluko kwindlela yokuziphatha . Umzekelo, banokuba nomdla kakhulu okanye babe nobunzima bokunikel' ingqalelo. Akunjalo nje kuphela, kodwa ngamanye amaxesha unokubona utshintsho oluncinci kwimo yobuso okanye utshintsho oluthile kwinkqubo yamathambo. Nangona kunjalo, ayizizo zonke ezi mpawu ezenzeka kumntwana ngamnye, kwaye zinokuhluka ukusuka komnye umntwana ukuya komnye.

Oku kubizwa ngokuba yi-'Lamb-Shafer' emva kwabaphandi ababini abafumanisa okokuqala le meko ngo-2012. Ukususela ngoko, uphando olongezelelweyo nolwazi luye lwenziwa ngalo mba.

Kodwa, ukuba ubuza ukuba oku kuqheleke kangakanani, kunzima koogqirha ukusho ngqo. Kuba kunqabile kakhulu . Okwangoku, kukho amatyala angaphantsi kwe-100 olu hlobo abhalwe kwiirekhodi zonyango kwihlabathi liphela. Ngoko ke akumangalisi ukuba awukaze uve ngale nto ngaphambili.

Yintoni ebangela le meko? (Masifunde ngejini ye-SOX5)

Kulungile, masibone ukuba kutheni le Lamb-Schafer Syndrome (LAMSHF) isenzeka. Njengoko benditshilo ngaphambili, esi sisifo semfuza . Kukho iijini kwiseli nganye emzimbeni wethu. Ezi jini azizizo kuphela ezimisela ubude bethu, umbala, kunye nokumila kweenwele, kodwa zikwanceda ekulawuleni imisebenzi eyahlukeneyo emzimbeni wethu. Kufana nenkqubo ekwikhompyutha.

Isifo seLamb-Schafer sibangelwa lutshintsho (ukuguquka) kwijini ethile emzimbeni wethu. Esi jini sibizwa ngokuba yijini ethi `SOX5` . Ngokwesiqhelo, umntu ophilileyo uneekopi ezimbini zale jini ethi `SOX5` emzimbeni wakhe, kwaye zombini zisebenza kakuhle. Nangona kunjalo, umntu one-Lamb-Schafer syndrome une-pathogenic variant kwikopi enye yale jini ethi `SOX5`., oko kuthetha ukuba kukho utshintsho oluyingozi. Nokuba olunye uhlobo luqhelekile, kungenxa yotshintsho olukwijini enye apho iimpawu zibonakala khona.

I-gene ethi `SOX5` yi-gene ebalulekileyo enceda ekuvelisweni kweeproteni emzimbeni wethu (ukwenziwa kweeproteni) nasekulawuleni ukukhula kweentlobo ezithile zeeseli, ingakumbi engqondweni nasemzimbeni . Ngoko ke xa kukho isiphene kule gene, iinkqubo ezinxulumene nayo zinokuchaphazeleka. Uyayazi?

Uguquko lweDe Novo kunye nendlela oluzuzwa ngayo njengelifa

Ngoku usenokuba uzibuza, "Ngaba le yinto oyifumana kubazali bakho?" Uninzi lwexesha, oko kukuthi, uninzi lwabantwana abane-Lamb-Schafer syndrome banemeko ngenxa yenguqu entsha (de novo mutation). Igama elithi 'De novo' lithetha 'intsha'. Ngamafutshane, bobabini abazali banokuba neekopi eziphilileyo ze-'SOX5' gene kwiiseli zabo zomzimba. Nangona kunjalo, ngexesha lokukhulelwa, utshintsho kwi-'SOX5' gene lunokwenzeka ngengozi kwi-sperm okanye kwiqanda. Oku akulona ityala lomntu. Oku kwenzeka ngengozi.

Nangona kunjalo, inani elincinci kakhulu (malunga ne-15%) labantwana, malunga ne-15 kwi-100, linale meko kuba zimbalwa kuphela iiseli zentsholongwane (isidoda okanye amaqanda) zomnye wabazali ezine-SOX5 gene mutation. Oku kuthetha ukuba ezinye iiseli emzimbeni kamama okanye katata azinalo olu tshintsho, ngoko ke abo bazali ababonisi zimpawu ze-Lamb-Schafer syndrome. Nangona kunjalo, zimbalwa kuphela iiseli zabo zentsholongwane ezinokuba nolu tshintsho. Oku kubizwa ngokuba yi-germline mosaicism. Kunzima kancinci, kodwa oogqirha banokukuchazela ngakumbi.

Okungaqhelekanga nangakumbi, umntwana unokuzuza esi sifo kumzali one-Lamb-Schafer syndrome. Ukuba oko kuyenzeka, loo mntwana unethuba elingama-50% lokufumana esi sifo. Oku kuthetha ukuba umntwana omnye kwababini unokuba naso, okanye angabi naso kwaphela.

Zithini iimpawu? Uzibona njani?

Kulungile, ngoku makhe sibone ukuba zeziphi iimpawu onokuzibona kumntwana oneLamb-Schafer Syndrome (LAMSHF). Khumbula, ayizizo zonke ezi mpawu eziya kubakho kumntwana ngamnye, ezinye zisenokuba neempawu ezithile kuphela, okanye ubukhali beempawu bungahluka.

Amaxesha amaninzi, iimpawu zokuqala ezibonakalayo kukucotha kokuthetha kunye nezakhono zomzimba. Izakhono zomzimba ziquka izinto ezifana nokuhlala phantsi, ukukhasa, nokuhamba. Ezi zingathatha ixesha elide ukuba umntwana wakho azenze. Iintsana ezincinci zinokuba nemisipha ephantsi (hypotonia) , oko kuthetha ukuba zinokuba nomzimba obuthathaka.

Iimpawu eziqhelekileyo

Njengoko umntwana ekhula, unokubona iimpawu ezingakumbi. Ezinye zezi ziquka:

• Ukukhula kwentetho okulibazisekileyo: Abanye abantwana banokuba nobunzima bokudibanisa amagama nokwakha izivakalisi. Abanye basenokuqala ukuthetha kade kakhulu.
• Ukuncitshiswa kwexesha lokuqwalasela:Kunokuba nzima ukugxila kwinto enye ixesha elide. Ungaphazamiseka lula.
• Ukungakhathali: Ubunzima bokuhlala kwindawo enye, unokuba nomkhwa wokubaleka nokudlala rhoqo.
• Ukukhubazeka kwengqondo: Kusenokuba nzima ukufunda izinto ezintsha, ukukhumbula izinto, nokusombulula iingxaki. Ubungakanani boku bunzima buyahluka kumntu nomntu.
• Iingcamango ezingaqhelekanga: Ngamanye amaxesha ungambona umntwana wakho esenza uhlobo olufanayo lwentshukumo (njengokuqhwaba izandla okanye ukunikina intloko) ngokuphindaphindiweyo. Ezi zizinto abazenzayo ngaphandle kokulawula.
• Ukuzihlukanisa nabanye: Kusenokubakho ukungabi namdla wokunxulumana nabanye, ukudlala, okanye ukuthetha nabanye.
• Ukucaphuka ngokukhawuleza: Abanye abantwana banengxaki yokulawula iimvakalelo zabo, ngoko ke basenokuba nomsindo rhoqo baze bacaphuke ngokukhawuleza .
• Iingxaki zamehlo: Abanye abantwana banokuba ne -strabismus , uhlobo oluthile lwe-cross-eye, okanye iimpazamo zokuhombisa amehlo , ezifana nokubona izinto ezikufutshane okanye i-astigmatism, ezinokufuna iiglasi.

Ayingomntwana wonke onenye okanye ezimbini kwezi mpawu one-Lamb-Schafer syndrome, yiyo loo nto kubalulekile ukufuna iingcebiso zonyango.

Enye into kukuba malunga nomnye kubantwana abali-10 abane-Lamb-Schafer syndrome usenokuba ne -seizures . Kodwa oko akunjalo kubo bonke abantu.

Utshintsho ebusweni nasemzimbeni

Abanye abantwana banokuba notshintsho oluthile kwimilo yobuso babo kunye namathambo abo omzimba. Nangona kunjalo, olu tshintsho lusenokungabonakali kangako, kwaye lunokubonwa ngugqirha kuphela.

• Impumlo ebanzi
• Ibunzi elibonakalayo (`ukubutha kwangaphambili`)
• Isilevu okanye umhlathi omncinci
• I-Strabismus (amehlo anqamlezileyo)
• Umlebe ongaphezulu obhityileyo okanye imilebe egcwele ngokungacwangciswanga
• Ukudibana okungaqhelekanga kwethambo elinye okanye ngaphezulu entanyeni
• Ukujikeleza phambili emgogodleni (kyphosis)
• Ukugoba okungaqhelekanga emgogodleni wabo (i-scoliosis)

Xa iimpawu ezinje zibonakala, oogqirha benza uvavanyo olongezelelekileyo ukuze bafumane unobangela.

Uyixilonga njani le nto kanye? (Uxilongo)

Oogqirha basebenzisa uvavanyo lwemfuza ukuze bafumanise ukuba umntwana une-Lamb-Schafer syndrome (LAMSHF). Umzekelo, ukuba umntwana ulibazisekile ekuthetheni okanye ekuhambeni, okanye ukuba kukho utshintsho oluncinci kwimo yobuso okanye yenkqubo yamathambo, oogqirha banokucebisa olu hlobo lovavanyo lwemfuza.

Olu vavanyo lwemfuza yeyona ndlela yokufumanisa ngokuchanekileyo ukuba kukho utshintsho kwi-gene ye-`SOX5` ekhankanyiweyo ngaphambili. Olu luvavanyo oluhlala lwenziwa kwisampulu yegazi.

Ngaba ungayibona ngexesha lokukhulelwa?

Amaxesha amaninzi, ayingomntu wonke ovavanywayo i-Lamb-Schafer syndrome ngexesha lokukhulelwa. Oku kungenxa yokuba yimeko engaqhelekanga kakhulu. Nangona kunjalo, ukuba umama okanye ilungu losapho elisondeleyo laziwa ngokuba notshintsho kwi-'SOX5' gene, okanye ukuba umntu kusapho une-Lamb-Schafer syndrome , oogqirha banokucebisa ukuba kuvavanywe imeko ngexesha lokukhulelwa. Kwimeko ezinjalo, uvavanyo olufana ne-'(amniocentesis)' lunokwenziwa ngengcebiso yengcali.

Zithini iindlela zonyango?

Okwangoku akukho nyango luthile lwe-Lamb-Schafer syndrome (LAMSHF), oko kuthetha ukuba inokusinyanga ngokupheleleyo esi sifo. Nangona kunjalo, oko akuthethi ukuba asinakwenza nto. Injongo ephambili yonyango kukuphucula umgangatho wobomi bomntwana nokumnceda ukuba enze imisebenzi yemihla ngemihla.

Oku kungabandakanya iintlobo ngeentlobo zonyango kunye neenkonzo. Umzekelo:

• Unyango lokulawula ukuziphatha: Oku kunceda ekunciphiseni ukuziphatha okungafanelekanga komntwana nokukhuthaza ukuziphatha okuhle.
• IiNkqubo zeMfundo eziZimeleyo (IEP) okanye iiNkonzo zeMfundo eKhethekileyo: Ezi nkqubo zinceda ekuboneleleni ngemfundo kubantwana abakwiminyaka yokufunda eyenzelwe iimfuno zabo zokufunda.
• Unyango lokuthetha: Oku kubaluleke kakhulu kubantwana abanengxaki yokuthetha ukuphucula izakhono zabo zonxibelelwano.
• Unyango lomzimba: Abantwana abaneengxaki zomqolo (ezifana ne-scoliosis kunye ne-kyphosis) bafumana umthambo wokuphucula ukuma kwabo, ukuqinisa izihlunu zabo, kunye nezixhobo zokuhamba.
• Ucebisi ngezofuzo: Oku kunceda abazali baqonde imeko yomntwana, babazise ngolwazi olutsha, baze bathethe namanye amalungu osapho malunga neengozi zemeko leyo.
• Uvavanyo lwamehlo: Kubalulekile ukubona ugqirha wamehlo ukuze unyange iingxaki zamehlo.
• Uvavanyo lwe-neurological: Ingcali ye-neurologist inokunceda kwiingxaki ezinxulumene nenkqubo ye-nervous, ezinje ngokuxhuzula kunye nokungahambi kakuhle kwendlela yokuhamba.
• Uvavanyo lwamathambo: Iingxaki ezinxulumene nenkqubo yamathambo, njenge-scoliosis, zinokufuna uncedo logqirha wamathambo.

Konke oku kwenzelwa ukunceda umntwana aphile ubomi obulungileyo nobonwabisayo kangangoko kunokwenzeka.Ngenxa yokuba iimfuno zonyango zomntu ngamnye zinokwahluka, iqela loogqirha liya kusebenzisana ukufumanisa ukuba yintoni elungele umntwana.

Ngaba abantwana bexesha elizayo nabo baya kuba semngciphekweni?

Ukuba uyazi ukuba wena okanye umntu kusapho lwakho une-'SOX5' gene mutation, kwaye ulindele omnye umntwana, kulungile ukubona umcebisi wezemfuza . Angakuchazela amathuba okudlulisela esi sifo kubantwana bexesha elizayo, kunye nendlela esinokukuchaphazela ngayo wena nomntwana wakho ukuba wenza njalo. Oku kuya kukunceda wenze izigqibo ezinolwazi.

Buza kuba njani ubomi xa kukho le meko? (Impembelelo yexesha elide)

Ngokweenkcukacha zangoku, i-Lamb-Schafer syndrome (LAMSHF) ayibonakali iyichaphazela indlela umntu aphila ngayo. Oko kuyanceda, akunjalo? Nangona kunjalo, ukuphila nale meko kunokwahluka kumntu nomntu, ngamanqanaba ahlukeneyo omgangatho wobomi.

Abanye abantu basenokungakwazi ukwenza umsebenzi wabo ngokuzimela. Ngokuxhomekeke kubuchule babo bokucinga, banokufuna inkxaso yomntu obakhathalelayo ubomi babo bonke. Nangona kunjalo, ngonyango olufanelekileyo nenkxaso, nabo banokuphila ubomi obonwabisayo nobunenjongo.

Izinto onokuzibuza ugqirha wakho

Ukuba unemibuzo malunga nomntwana wakho okanye le meko, ungaze woyike ukubuza ugqirha wakho okanye umongikazi. Ungabuza izinto ezinje:

• Zithini iimpawu zesifo seLamb-Schafer?
• Zeziphi iimvavanyo ekufuneka ndizenze ukuze ndifumanise ukuba umntwana wam unale meko?
• Ziziphi iindlela zonyango ezikhoyo?
• Ukuba ndinomnye umntwana, mangakanani amathuba okuba naye abe nale meko?

Kubaluleke kakhulu ukubuza imibuzo efana nale nokusombulula iingxaki ezingqondweni yakho.

Umyalezo Wokuya Ekhaya

Isifo seLamb-Shaffer Syndrome (LAMSHF) sisifo esingaqhelekanga kakhulu esibangelwa yimfuza. Sinokubangela ukulibaziseka kokukhula, ukukhubazeka kwengqondo, kunye notshintsho lobuso ebantwaneni. Abanye abantwana banokuba neengxaki zomqolo.

Nangona kungekho ndlela yokunyanga oku, kukho iindlela ezahlukeneyo zonyango (ezifana nonyango lokuthetha, unyango lokuziphatha, kunye nemfundo ekhethekileyo) ukuphucula izakhono zomntwana kunye nomgangatho wobomi.

Okwangoku kukholeleka ukuba le meko ayinampembelelo kubomi bayo bonke. Nangona kunjalo, abanye abantwana banokufuna unyango lobomi bonke. Ukuba unamathandabuzo okanye uxhalabile ngale nto, funa ingcebiso kagqirha ngokukhawuleza. Leyo yeyona nto ilungileyo onokuyenza.

Isifo seLamb-Shaffer, i-LAMSHF, i-SOX5 gene, isifo semfuza, ukulibaziseka kokukhula, ubunzima bokuthetha, ukukhubazeka kwengqondo