Ingabe ingane yakho ibonakala ikhula ngokushesha kunezinye izingane? Ake sixoxe nge-Sotos Syndrome

Wake waphawula ukuthi ingane yakho ikhula ngokushesha kunezinye izingane ezingontanga yayo, noma ukuthi ikhanda layo likhulu kancane? Noma mhlawumbe inenkinga yokufunda izinto ezithile? Lokhu kungaba ngezinye izikhathi izimpawu zesimo esingavamile sofuzo esibizwa ngokuthi i-Sotos Syndrome . Ungakhathazeki, sizoxoxa ngalokhu ngokuningiliziwe, kalula.

Iyini i-Sotos Syndrome?

Kalula nje, i-Sotos Syndrome iyisifo esingavamile esibangelwa izakhi zofuzo. Ngezinye izikhathi sibizwa ngokuthi i-Cerebral Gigantism . Izingane ezinalesi simo zikhula ngokushesha kunezinye izingane ezingontanga yazo, okusho ukuthi zikhula zibe zinde.

Kunezici eziningana eziyinhloko zalesi simo:

• Ukuba mude kunabanye.
• Ikhanda elikhulu kunejwayelekile kanye nezici zobuso ezihlukile.
• Ukukhubazeka kwengqondo, noma ubunzima bokuqonda nokukhumbula izinto.
• Izinselele zokuziphatha noma izinkinga zokuziphatha.

Imbangela enkulu yalesi simo ukuguquka kwezakhi zofuzo okuthiwa i-NSD1 emzimbeni wethu. Cabanga ngakho, lesi sakhi sofuzo se-NSD1 sifana nencwadi etshela imizimba yethu ukuthi ikhule futhi ithuthuke kanjani. Ngakho-ke, uma kukhona ushintsho kulesi sakhi sofuzo, ukulawula ukukhula komzimba kuba yinto engahlelekile. Yingakho izingane ezinalesi simo zikhula zibe zinde kunezinye.

Ubani othola iSotos Syndrome?

Lesi yisimo sofuzo esingathinta noma yimuphi umntwana. Isikhathi esiningi, okungukuthi , amaphesenti angama-95 (95%), sibangelwa ukuguquka okusha kofuzo. Okungukuthi, ushintsho olungahleliwe ku-gene eqandeni noma esithweni sesidoda. Lokhu akulona iphutha lomuntu.

Kodwa-ke, akuvamile kakhulu, uma omunye wabazali enalolu shintsho lwezakhi zofuzo, ingane nayo ingaluthola njengefa. Kwezokwelapha, lokhu sikubiza ngokuthi ifa eliyi-autosomal dominant . Kuleso simo, ingane ngayinye ezalwa yilabo bazali inethuba elingamaphesenti angama-50 (50%) lokuthola lesi simo njengefa.

Sivame kangakanani lesi simo?

I-Sotos syndrome iyisimo esingavamile kakhulu . Kulinganiselwa ukuthi ithinta cishe umntwana oyedwa kwabangu-14,000 abazalwa. Izimpawu zalesi simo zivame ukufana nezezinye izimo, ngakho ezinye izingane zingase zingatholakali.

Ziyini izimpawu ze-Sotos Syndrome?

Ngenxa yokuthi lesi simo sibangela ukukhula okusheshayo ngokomzimba, laba bantwana bangase babe nokubukeka okuhlukile. Izici eziyinhloko zomzimba yilezi:

• Ibunzi eliphuma phezulu.
• Ubuso obude nobuncane.
• Isilevu esicijile.
• Amehlo abheke phansi (imifantu ye-palpebral).
• Ukwandiswa kobubanzi bengalo.
• Ubuthakathaka bemisipha (hypotonia), okusho ukuxhuga okuncane.
• Ukuphakama kuyakhula njengoba ukhula.

Khumbula, akuzona zonke izingane ezizoba nazo zonke lezi zici, futhi ukuba nesinye noma ezimbili zalezi zici akusho ukuthi zine-Sotos syndrome.

Yiziphi izinkinga zomzimba ezingaba khona ngenxa yalesi simo?

Izingane ezine-Sotos syndrome zingase zibe nezinkinga ezithile zomzimba, okuhlanganisa:

• Ubunzima bokuhlanganisa izinto. Ungase ube nobunzima bokuhamba, ukugijima, noma ukugxuma.
• Ukulahlekelwa ukuzwa.
• Izinkinga zenhliziyo nezinso.
• I-Scoliosis.
• Ukuquleka, njengesithuthwane.
• Izinkinga zokubona.

Kodwa ungakhathazeki , eziningi zalezi zinkinga zingelashwa. Udokotela wakho uzokunikeza ukwelashwa okudingekayo ukusiza ingane yakho iphile impilo ejabulisayo nenempilo ngangokunokwenzeka.

I-Sotos Syndrome iyithinta kanjani ingane yami?

Lesi simo singathinta hhayi nje kuphela ukukhula komzimba kwengane, kodwa futhi neSistimu Yezinzwa Ephakathi . Isistimu yezinzwa ephakathi imane nje ingubuchopho bethu kanye nomgogodla. Yilezi ezilawula ukusebenza komzimba nengqondo yethu.

Ngakho-ke, ngenxa yokuthi lesi simo sithinta isimiso sezinzwa esiyinhloko, kungase kube nokubambezeleka okuncane eminyakeni embalwa yokuqala yokuphila kwengane ekufinyeleleni izigaba zokukhula . Izigaba zokukhula yizinto izingane eziningi ezingazenza eminyakeni ethile. Isibonelo:

• Amakhono okuqonda: Indlela ingane efunda, ecabanga futhi ixazulula ngayo izinkinga.
• Ukuthuthukiswa kolimi: Indlela ingane ekhuluma futhi ephendula ngayo kulokho okushiwo abanye.
• Ukuthuthukiswa komzimba: Amakhono okunyakaza kwengane, njengokuhamba, ukugijima, nokugxuma.
• Amakhono okuxhumana nabantu kanye nemizwa: Indlela ingane edlala ngayo nabanye futhi yakha ubudlelwano.

Ngenxa yokuthi ukuguquka kwezakhi zofuzo kushintsha ukusebenza kwesimiso sezinzwa sengane, izingane ezine-Sotos syndrome zingase zibe nokukhubazeka kwengqondo.

Lezi zinguquko endleleni ingane efunda futhi edlala ngayo zingathinta nokuziphatha kwayo. Ezinye zezimpawu zokuziphatha ezihlobene ne-Sotos syndrome zifaka:

• Ukukhathazeka.
• Isifo sokungakwazi ukunaka/sokungasebenzi kahle (ADHD).
• Isifo se-Autism spectrum (ASD).
• Ukuziphatha okungenangqondo.
• Ubunzima bokuxhumana nabantu.
• Ukuziphatha okucasulayo, ukukhala (Ukucasuka).

I-Sotos Syndrome ihluke kanjani phakathi kwezingane nabantu abadala?

Izingane ezine-Sotos syndrome zikhula ngokushesha kunezinye izingane ezingontanga yazo. Ngakho-ke, lapho zisencane, zikhula ngokuphawulekayo kunezinye izingane. Kodwa-ke, njengoba ziba ngabantu abadala, ukungavamile kokuphakama kuyanyamalala kakhulu. Lokhu kusho ukuthi njengabantu abadala, ukuphakama kwazo akubonakali kuhluke kakhulu kokwezinye izingane.

Ubunzima bokugcina ibhalansi ngenxa yobude bungaphikelela uze ube mdala uma bungelashwa usemncane.

Abantu abaningi abane-Sotos syndrome banenkinga yokufunda, kodwa abanye bangase bangabi nayo. Uhlobo lwale nkinga yokufunda luyahlukahluka kuye ngomuntu nomuntu. Kodwa-ke, izinga lokukhubazeka livame ukufana kukho konke ukuphila.

Itholakala kanjani i-Sotos Syndrome?

Ukuthola lesi simo kungaba nzima kancane ngoba, njengoba ngishilo ngaphambili, izimpawu zaso zifana nezezinye izimo zezokwelapha ezivamile.

Udokotela wakho uzoqala ngokuhlola ingane yakho ngokomzimba ukuze ahlole izimpawu. Ngemuva kwalokho, uma kudingeka, uzokudlulisela ukuze uyohlolwa izakhi zofuzo . Lokhu kuhilela ukuthatha isampula yegazi lengane yakho bese uyihlola ukuze kutholakale ukuthi ikhona yini i-mutation ku-NSD1 gene engikhulume ngayo ekuqaleni. Uma ukuhlolwa kuqinisekisa ukuthi kukhona i-mutation ku-NSD1 gene, udokotela uzophetha ngokuthi ingane ine-Sotos syndrome. Lokhu kutholakala kuvame ukwenzeka ngesikhathi isencane noma isencane.

Yiziphi izindlela zokwelapha i-Sotos Syndrome?

Ukwelashwa kwe-Sotos syndrome kuncike ebunzimeni besimo. Umgomo oyinhloko wokwelashwa ukulawula izimpawu nokusiza ingane iphile impilo ekhululekile. Ezinye zezindlela zokwelapha eziyinhloko yilezi:

• Ukusekelwa kwezemfundo: Izinhlelo zemfundo ekhethekile ezenzelwe amakhono okufunda engane.
• Izindlela zokwelapha ezahlukahlukene:
• Ukwelashwa kokuziphatha: Lawula izinkinga zokuziphatha.
• Ukwelashwa ngokomzimba: Thuthukisa ibhalansi yomzimba futhi uqinise imisipha.
• Ukwelapha ngenkulumo: Thuthukisa amakhono okukhuluma nolimi.
• Imithi yokulawula izimpawu: Isibonelo, imithi ye-ADHD kanye nokukhathazeka.
• Izinsiza zokuzwa zokukhubazeka kokuzwa.
• Ukugqoka i-brace yomgogodla noma ukuhlinzwa kwe-scoliosis.
• Ukugqoka izibuko ngenxa yokukhubazeka kokubona.

Kubaluleke kakhulu ukungenelela kusenesikhathi kulezi zimpawu zokulibaziseka kokukhula kanye nezinye izimpawu. Lokhu kuzosiza kakhulu ingane ukuthi ifinyelele amandla ayo aphelele.

Ngingayinciphisa yini ingozi yengane yami ye-Sotos Syndrome?

I-Sotos syndrome ivame ukubangelwa ukuguquka kwezakhi zofuzo okungahleliwe. Ngakho-ke, ezimweni eziningi, ayikho indlela yokuyivimbela .

Kodwa-ke, uma une-Sotos syndrome, noma uma ulindele umntwana futhi othile emndenini wakho enalesi simo sofuzo, kubaluleke kakhulu ukuthola ukwelulekwa ngofuzo nokukhuluma nodokotela. Lokhu kuzokusiza ukuthi uthole ukuhlolwa kwengozi yakho yokuba nengane enesifo sofuzo.

Yini okufanele ngiyilindele uma ingane yami ine-Sotos Syndrome?

I-Sotos syndrome iyisimo sokuphila konke ; ayikho ikhambi. Kodwa, okubaluleke kakhulu, lesi simo asivamile ukubangela imiphumela emibi esongela impilo . Izindaba ezinhle ukuthi ingane ene-Sotos syndrome ingaphila impilo evamile .

Ingane yakho ingase ibe nezimpawu ezithile ngenxa yalesi simo sofuzo. Kodwa-ke, kunezindlela zokwelapha kanye nezindlela zokwelapha ezingasiza ekunciphiseni lezi zimpawu. Udokotela wengane yakho angakusiza nganoma yikuphi ukukhathazeka ongase ube nakho.

Kufanele ngimbone nini udokotela wengane yami?

Kungumqondo omuhle ukubona udokotela uma ubona noma yikuphi kwalokhu okulandelayo enganeni yakho:

• Ukungaphenduli emiyalweni elula yomlomo noma ukuba nobunzima bokuzwa.
• Ukuba nezinkinga zokuziphatha ezithinta ukufunda esikoleni.
• Ubunzima bokubona ngokucacile noma ukubhekabheka njalo lapho ubheka okuthile.
• Ukwehluleka ukuhlangabezana nezinyathelo ezibalulekile zokukhula eminyakeni efanele.

Kufanele ngiyise nini ingane yami ekamelweni lezimo eziphuthumayo (ETU) ?

Uma ingane yakho ine-Sotos syndrome futhi inesifo sokuwa , kufanele uyise ingane yakho ekamelweni eliphuthumayo ngokushesha. Ukuwa kuyinkinga enkulu ye-Sotos syndrome. Uma kwenzeka ukuwa, ingane yakho ingase:

• Ukulahlekelwa ingqondo okwesikhashana.
• Ukuthuthumela okungalawuleki kwezitho.
• Ukubonisa ukudideka, ukukhathazeka, noma ukwesaba.

Ukuxhuzula kuvame ukuhlala phakathi kwemizuzwana engama-30 nemizuzu emibili. Noma yikuphi ukuxhuzula okuhlala isikhathi esingaphezu kwemizuzu emihlanu kuyisimo esiphuthumayo sezokwelapha. Uma lokhu kwenzeka, shayela u-911 ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma ukhuluma nodokotela ngengane yakho, kuyasiza ukubuza imibuzo efana nale:

• Kwenzekani uma ingane yami ingafinyeleli izigaba zokukhula?
• Uma ingane inenkinga yokugcina ibhalansi, ungayigcina kanjani iphephile?
• Ingabe kufanele ngibone ingane yami kudokotela ochwepheshe ukuze ngithole imiphumela emibi ebangelwa yilesi simo?

Uyini umehluko phakathi kweSotos Syndrome kanye ne-Autism Spectrum Disorder (ASD)?

I-Sotos syndrome kanye ne-autism spectrum disorder (ASD) yizimo ezimbili . Kodwa-ke, ngenxa yokuthi ezinye zezimpawu zazo zombili ziyafana, ngezinye izikhathi zingahlolwa ngendlela engalungile.

• I-Sotos syndrome yisimo sezakhi zofuzo esibangelwa ukuguquka kwezakhi zofuzo ze-NSD1.
• Isifo se-Autism spectrum (ASD) siyisimo sokukhula kwezinzwa. Ezimweni eziningi, imbangela eqondile ye-ASD ayaziwa.

Kodwa-ke, kubalulekile ukuqaphela ukuthi izingane ezine-Sotos syndrome zinamathuba amaningi okuthuthukisa i-ASD kunezingane ezingenayo i-Sotos syndrome.

Nazi ezinye izici ezivamile ezingabonakala kuzo zombili lezi zimo:

• Ukukhubazeka kwengqondo.
• Ukubambezeleka ekuthuthukisweni kolimi.
• Ukubambezeleka kwamakhono okunyakaza kanye nokulinganisela.
• Ubunzima bokuzivumelanisa nezimo zomphakathi.
• Ubunzima bokugxilisa ingqondo.
• Amaphethini nemikhuba ethile yokuziphatha.

Umehluko omkhulu ukuthi i-Sotos syndrome ithinta nokukhula ngokomzimba kwengane, njengokuphakama nosayizi wekhanda. Kodwa-ke, i-autism spectrum disorder (ASD) ayithinti ukukhula ngokomzimba ngendlela efanayo. Izingane ezine-Sotos syndrome zikhula ngokushesha kunabanye abaneminyaka yazo, zinamakhanda amakhulu, futhi zinezici zobuso ezihlukile.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kuvamile ukuzizwa ukhungathekile uma uthola ukuthi ingane yakho inesifo esingavamile sofuzo. Kodwa khumbula, i-Sotos Syndrome akuyona into esongela impilo.

Ngothando lwakho, ukwesekwa, kanye nokunakekelwa kwezokwelapha okufanele, ingane yakho ingafinyelela amandla ayo aphelele.

Uma ukhulelwe umntwana, cabanga ngokufuna ukwelulekwa ngofuzo ukuze uthole ukuthi usengozini yini yezinkinga zofuzo. Hlala uvulekile kudokotela wakho futhi ungesabi ukubuza noma yimiphi imibuzo onayo. Bakhona ukukusiza.

I- Sotos Syndrome, izifo zofuzo, ukukhula kwengane, ukukhula kobude, ukukhula kobuchopho, ukukhubazeka kokufunda, izinkinga zokuziphatha