Ngaba umntwana wakho ubonakala ekhula ngokukhawuleza kunabanye abantwana? Masithethe ngeSotos Syndrome

Ngaba wakha waphawula ukuba umntwana wakho ukhula ngokukhawuleza kunabanye abantwana abalingana naye, okanye ukuba intloko yakhe inkulu kancinci? Okanye mhlawumbi unengxaki yokufunda izinto ezithile? Ngamanye amaxesha ezi zinokuba ziimpawu zesifo esingaqhelekanga semfuza esibizwa ngokuba yiSotos Syndrome . Ungakhathazeki, siza kuthetha ngale nto ngokweenkcukacha, ngokulula.

Yintoni iSotos Syndrome?

Ngamafutshane, iSotos Syndrome sisifo esingaqhelekanga semfuza. Ngamanye amaxesha sibizwa ngokuba yiCerebral Gigantism . Abantwana abanale meko bakhula ngokukhawuleza kunabanye abantwana abaneminyaka yabo, oko kuthetha ukuba bakhula babe bade.

Kukho iimpawu eziphambili ezininzi zale meko:

• Ukuba mde kunabanye.
• Intloko enkulu kunesiqhelo kunye neempawu zobuso ezahlukileyo.
• Ukuphazamiseka kwengqondo, okanye ubunzima bokuqonda nokukhumbula izinto.
• Iingxaki zokuziphatha okanye iingxaki zokuziphatha.

Eyona nto ibangela le meko kukuguquka kwejini ekuthiwa yi-NSD1 emzimbeni wethu. Cinga ngayo le jini ye-NSD1 ifana nencwadi exelela imizimba yethu indlela yokukhula nokukhula. Ngoko ke, ukuba kukho utshintsho kule jini, ulawulo lokukhula komzimba luba yinto engaqhelekanga. Yiyo loo nto abantwana abanale meko bekhula babe bade kunabanye.

Ngubani ofumana iSotos Syndrome?

Le yimeko yemfuza enokuchaphazela nawuphi na umntwana. Uninzi lwexesha, oko kukuthi , ama-95 ekhulwini (95%), ibangelwa kukuguquka kwemfuza entsha. Oko kukuthi, utshintsho olungaqhelekanga kwimfuza kwiqanda okanye kwiseli yesidoda. Oku akulotyala lomntu.

Nangona kunjalo, kunqabile kakhulu, ukuba omnye wabazali une-gene mutation, umntwana naye unokuyifumana njengelifa. Kwizonyango, sibiza le autosomal dominant inheritance. Kwimeko enjalo, umntwana ngamnye ozelwe ngabo bazali unethuba elingama-50 ekhulwini (50%) lokufumana le meko.

Ixhaphake kangakanani le meko?

I-Sotos syndrome yimeko engaqhelekanga kakhulu . Kuqikelelwa ukuba ichaphazela malunga nomntu omnye kwabayi-14,000 abazalwayo. Iimpawu zale meko zihlala zifana nezezinye izifo, ngoko ke abanye abantwana banokungafumani zimpawu.

Zithini iimpawu zeSotos Syndrome?

Ngenxa yokuba le meko ibangela ukukhula ngokukhawuleza emzimbeni, aba bantwana banokuba nenkangeleko eyahlukileyo. Iimpawu eziphambili zomzimba zezi:

• Ibunzi eliphuma phezulu.
• Ubuso obude, obumxinwa.
• Isilevu esibukhali.
• Amehlo ajonge phantsi (iimfanta zepalpebral).
• Ukwandiswa kwengalo.
• Ubuthathaka bemisipha (hypotonia), oko kuthetha ukuqhwalela okuncinci.
• Ukunyuka kobude xa kuthelekiswa nobudala.

Khumbula, ayinguye wonke umntwana oza kuba nazo zonke ezi mpawu, kwaye ukuba nenye okanye ezimbini kwezi mpawu akuthethi ukuba unesifo seSotos.

Zeziphi iingxaki zomzimba ezinokwenzeka ngenxa yale meko?

Abantwana abaneSotos syndrome banokufumana iingxaki ezithile zomzimba, kuquka:

• Ubunzima bokulungelelanisa. Usenokuba nobunzima bokuhamba, ukubaleka, okanye ukutsiba.
• Ukulahlekelwa kukuva.
• Iingxaki zentliziyo nezintso.
• I-Scoliosis.
• Ukuxhuzula, okufana nokuxhuzula.
• Iingxaki zokubona.

Kodwa ungakhathazeki , uninzi lwezi ngxaki zinokunyangwa. Ugqirha wakho uza kukunika unyango olufunekayo ukunceda umntwana wakho aphile ubomi obonwabisayo nobunempilo kangangoko kunokwenzeka.

I-Sotos Syndrome imchaphazela njani umntwana wam?

Le meko ayinakuchaphazela kuphela uphuhliso lomntwana ngokwasemzimbeni, kodwa neNkqubo yeNervous ephakathi . Inkqubo yenervous ephakathi yingqondo yethu kunye nomqolo. Ezi zezona zilawula ukusebenza komzimba nengqondo yethu.

Ngoko ke, ngenxa yokuba le meko ichaphazela inkqubo yemithambo-luvo ephakathi, kunokubakho ukulibaziseka okuncinci kwiminyaka embalwa yokuqala yobomi bomntwana ekufikeleleni kwimigangatho yophuhliso . Imigangatho yophuhliso zizinto uninzi lwabantwana olunokuzenza xa luneminyaka ethile. Umzekelo:

• Izakhono zokuqonda: Indlela umntwana afunda, acinga ngayo, aze asombulule ngayo iingxaki.
• Uphuhliso lolwimi: Indlela umntwana athetha naphendula ngayo kwinto ethethwa ngabanye.
• Uphuhliso lomzimba: Izakhono zomntwana zokunyakaza, njengokuhamba, ukubaleka, nokutsiba.
• Izakhono zentlalo nezeemvakalelo: Indlela umntwana adlala ngayo nabanye kwaye wakha ubudlelwane.

Ngenxa yokuba utshintsho lwemfuza lutshintsha ukusebenza kwenkqubo yemithambo-luvo yomntwana, abantwana abaneSotos syndrome banokuba nokukhubazeka kwengqondo.

Olu tshintsho kwindlela umntwana afunda nadlala ngayo lunokuchaphazela indlela aziphatha ngayo. Ezinye zeempawu zokuziphatha ezinxulumene neSotos syndrome ziquka:

• Ixhala.
• Ingxaki yokunqongophala kwengqalelo/yokungasebenzi kakuhle (ADHD).
• Ingxaki ye-Autism spectrum (ASD).
• Ukuziphatha okungxamisekileyo.
• Ubunzima bokuhlalisana nabantu.
• Ukuziphatha okucaphukisayo, ukukhala (Ukucaphuka).

I-Sotos Syndrome yahluke njani phakathi kwabantwana nabantu abadala?

Abantwana abaneSotos syndrome bakhula ngokukhawuleza kunabanye abantwana abaneminyaka yabo. Ngenxa yoko, xa besebancinci, bade kakhulu kunabanye abantwana. Nangona kunjalo, njengoko bekhula, ukungaqhelekanga kokuphakama kuyanyamalala. Oku kuthetha ukuba njengabantu abadala, ubude babo abubonakali buhluke kangako kobabanye abantwana.

Ubunzima bokugcina ulungelelwano ngenxa yobude bunokuqhubeka bude bube mdala ukuba abunyangwa busemncinci.

Abantu abaninzi abaneSotos syndrome baneengxaki zokufunda, kodwa abanye basenokungabi nazo. Uhlobo lwezi ngxaki zokufunda luyahluka ukusuka kumntu ukuya komnye. Nangona kunjalo, inqanaba lokukhubazeka lihlala lifana ubomi bonke.

Ifunyanwa njani iSotos Syndrome?

Ukufumanisa le meko kunokuba nzima kancinci kuba, njengoko benditshilo ngaphambili, iimpawu zayo ziyafana nezezinye izifo eziqhelekileyo.

Ugqirha wakho uza kuqala enze uvavanyo lomzimba lomntwana wakho ukujonga iimpawu. Emva koko, ukuba kuyimfuneko, uza kukuthumela kuvavanyo lwemfuza . Oku kuquka ukuthatha isampulu yegazi lomntwana wakho uze uyivavanye ukuze ubone ukuba kukho utshintsho kwi-NSD1 gene endiyikhankanyileyo ngaphambili. Ukuba uvavanyo luqinisekisa ukuba kukho utshintsho kwi-NSD1 gene, ugqirha uza kugqiba kwelokuba umntwana une-Sotos syndrome. Olu xilongo ludla ngokuvela ebuntwaneni okanye ebuntwaneni.

Ziziphi iindlela zonyango lweSotos Syndrome?

Unyango lweSotos syndrome luxhomekeke kubunzulu bemeko. Injongo ephambili yonyango kukulawula iimpawu nokunceda umntwana aphile ubomi obutofotofo. Ezinye zeendlela zonyango eziphambili zezi:

• Inkxaso yemfundo: Iinkqubo zemfundo ekhethekileyo ezenzelwe ubuchule bokufunda bomntwana.
• Iindlela ezahlukeneyo zonyango:
• Unyango lokuziphatha: Lawula iingxaki zokuziphatha.
• Unyango lomzimba: Phucula ibhalansi yomzimba kwaye uqinise izihlunu.
• Unyango lokuthetha: Ukuphucula izakhono zokuthetha nezolwimi.
• Amayeza okulawula iimpawu: Umzekelo, amayeza e-ADHD kunye nexhala.
• Izixhobo zokuncedisa ukuva kubantu abanengxaki yokuva.
• Ukunxiba i-brace brace okanye ukwenza utyando lwe-scoliosis.
• Ukunxiba iiglasi xa ubona izinto ezingalunganga.

Kubaluleke kakhulu ukungenelela kwangethuba kwezi mpawu zokulibaziseka kokukhula kunye nezinye iimpawu. Oku kuya kunceda kakhulu umntwana ukuba afikelele kwinqanaba lakhe elipheleleyo.

Ndingawunciphisa na umngcipheko womntwana wam kwiSotos Syndrome?

I-Sotos syndrome idla ngokubangelwa kukuguquka kwezakhi zofuzo okungacwangciswanga. Ke ngoko, kwiimeko ezininzi, akukho ndlela yokuyithintela .

Nangona kunjalo, ukuba uneSotos syndrome, okanye ukuba ulindele umntwana kwaye umntu kusapho lwakho unale meko yemfuza, kubaluleke kakhulu ukufumana ingcebiso ngemfuza kwaye uthethe nogqirha. Oku kuya kukunceda ufumane uvavanyo lomngcipheko wokuba nomntwana onemeko yemfuza.

Yintoni endimele ndiyilindele ukuba umntwana wam uneSotos Syndrome?

I-Sotos syndrome yimeko yobomi bonke ; akukho nyango. Kodwa, okona kubaluleke kakhulu, le meko ayisoloko ibangela iziphumo ebezingalindelekanga ezisongela ubomi . Iindaba ezimnandi zezokuba umntwana one-Sotos syndrome unokuphila ubomi obuqhelekileyo .

Umntwana wakho usenokuba neempawu ezithile ngenxa yesi sifo semfuza. Nangona kunjalo, kukho unyango kunye neendlela zonyango ezinokunceda ukunciphisa ezi mpawu. Ugqirha womntwana wakho unokukunceda ngayo nayiphi na inkxalabo onokuba nayo.

Ndifanele ndimbone nini ugqirha womntwana wam?

Kungcono ukubona ugqirha ukuba ubona nayiphi na kwezi zinto zilandelayo emntwaneni wakho:

• Ukungaphenduli kwimiyalelo elula yomlomo okanye ukuba nobunzima bokuva.
• Ukuba neengxaki zokuziphatha ezichaphazela ukufunda esikolweni.
• Ubunzima bokubona ngokucacileyo okanye ukukrwela amehlo rhoqo xa ujonge into ethile.
• Ukungaphumeleli ukuhlangabezana nemigangatho yophuhliso kwiminyaka efanelekileyo.

Ndifanele ndimse nini umntwana wam kwigumbi likaxakeka (ETU) ?

Ukuba umntwana wakho uneSotos syndrome kwaye unesithuthwane , kufuneka umse kwigumbi likaxakeka ngoko nangoko. Ukuxhuzula yingxaki enkulu yeSotos syndrome. Xa umntwana wakho enesithuthwane, unokuthi:

• Ukulahlekelwa yingqondo okwethutyana.
• Ukungcangcazela kwamalungu okungalawulekiyo.
• Ukubonisa ukudideka, ixhala, okanye uloyiko.

Ukuxhuzula kudla ngokuthatha imizuzwana engama-30 ukuya kwimizuzu emibini. Nakuphi na ukuxhuzula okuhlala ixesha elingaphezu kwemizuzu emihlanu yingxamiseko yezonyango. Ukuba oku kuyenzeka, fowunela u-911 ngoko nangoko.

Ndingayibuza yiphi imibuzo ugqirha wam?

Xa uthetha nogqirha ngomntwana wakho, kuyanceda ukubuza imibuzo efana nale:

• Kuza kwenzeka ntoni ukuba umntwana wam akafikeleli kwinqanaba lokukhula?
• Ukuba umntwana unengxaki yokugcina ibhalansi, ungamgcina njani ekhuselekile?
• Ngaba kufuneka ndibone umntwana wam kwingcali ukuze ndifumane iziphumo ebezingalindelekanga ezibangelwa yile meko?

Yintoni umahluko phakathi kweSotos Syndrome kunye neAutism Spectrum Disorder (ASD)?

I-Sotos syndrome kunye ne-autism spectrum disorder (ASD) ziimeko ezimbini . Nangona kunjalo, ngenxa yokuba ezinye zeempawu zazo zombini ziyafana, ngamanye amaxesha zinokuchongwa gwenxa.

• I-Sotos syndrome yimeko yemfuza ebangelwa kukuguquka kwe-gene ye-NSD1.
• Ingxaki ye-Autism spectrum (ASD) yimeko yophuhliso lwemithambo-luvo. Kwiimeko ezininzi, unobangela ochanekileyo we-ASD awaziwa.

Nangona kunjalo, kubalulekile ukuqaphela ukuba abantwana abaneSotos syndrome banamathuba amaninzi okufumana i-ASD kunabantwana abangenayo iSotos syndrome.

Nazi ezinye iimpawu eziqhelekileyo ezinokubonwa kwezi meko zombini:

• Ukukhubazeka kwengqondo.
• Ukulibaziseka ekuphuhlisweni kolwimi.
• Ukulibaziseka kwizakhono zokuqhuba kunye nokulinganisela.
• Ubunzima bokuziqhelanisa neemeko zentlalo.
• Ubunzima bokugxila.
• Iipateni ezithile zokuziphatha kunye nemikhwa.

Umahluko ophambili kukuba iSotos syndrome ikwachaphazela nophuhliso lomzimba lomntwana, njengokuphakama nobukhulu bentloko. Nangona kunjalo, i-autism spectrum disorder (ASD) ayichaphazeli uphuhliso lomzimba ngendlela efanayo. Abantwana abaneSotos syndrome bakhula ngokukhawuleza kunabanye abaneminyaka yabo, baneentloko ezinkulu, kwaye baneempawu zobuso ezahlukileyo.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuqhelekile ukuziva uxinezelekile xa ufumanisa ukuba umntwana wakho unesifo esingaqhelekanga semfuza. Kodwa khumbula, iSotos Syndrome ayisoloko isongela ubomi.

Ngothando lwakho, inkxaso, kunye nonyango olufanelekileyo, umntwana wakho unokufikelela ngokupheleleyo kumandla akhe.

Ukuba ulindele umntwana, cinga ngokufuna iingcebiso ngemfuza ukuze ufumane ukuba usemngciphekweni na weengxaki zemfuza. Soloko ukhululekile kugqirha wakho kwaye ungoyiki ukubuza nayiphi na imibuzo onayo. Bakho ukukunceda.

I- Sotos Syndrome, izifo zemfuza, uphuhliso lomntwana, ukukhula kobude, uphuhliso lobuchopho, ukukhubazeka kokufunda, iingxaki zokuziphatha