Ngaba umntwana wakho unazo ezi mpawu? Masifunde ngeSmith-Magenis Syndrome!

Ngaba ngamanye amaxesha ukhe ube nombuzo malunga nokukhula nokuziphatha komntwana wakho omncinci? Kukho iimeko ezingaqhelekanga, kodwa ezibalulekileyo ezinokuchaphazela ubomi babantwana bethu. Namhlanje, siza kuthetha ngemeko abantu abaninzi abangazange bayive, kodwa ebaluleke kakhulu ukwazi ngayo. Oku kubizwa ngokuba yiSmith-Magenis Syndrome.

Yintoni kanye kanye iSmith-Magenis Syndrome?

Ngamafutshane, i-Smith-Maginnis syndrome yimeko yokukhula echaphazela amalungu ahlukeneyo omzimba womntwana. Ibangela ikakhulu ukukhubazeka kwengqondo, okukukukhubazeka kokufunda. Ukongeza, aba bantwana banokuba neempawu zobuso ezikhethekileyo, iingxaki zokuziphatha, kwaye ingakumbi iingxaki zokulala.

Khawucinge nje, umzimba wethu wenziwe ngeeseli ezincinci. Ezi seli zinento efana nencwadi yemiyalelo, eyi-DNA yethu. Iijini zethu zigcinwa kwiindawo ezithile ze-DNA ezibizwa ngokuba zii-chromosomes. I-Smith-Magnis syndrome yenzeka xa iqhekeza elincinci kakhulu le-chromosome ephethe ijini enye ebalulekileyo lisuswa kwi-DNA ekuqaleni kokukhulelwa komntwana. Oku kukuchaphazela imisebenzi eyahlukeneyo yomzimba.

Ngubani onokufumana le meko? Ixhaphake kangakanani?

I-Smith-Magenis Syndrome inokuchaphazela nabani na. Idla ngokuvela xa umntwana ekhulelwe, xa iqanda likamama kunye nesidoda sikatata zidibana, kwaye utshintsho lwemfuza (uguquko oluzenzekelayo okanye "de novo") lwenzeka. Oku kuthetha ukuba kwiimeko ezininzi, akukho mntu kusapho lwakhe owayekhe waba nale meko ngaphambili.

Kodwa, kunqabile kakhulu, oko kukuthi, kunqabile kakhulu, ukuba umntwana azuze esi sifo kubazali bakhe. Uyazi njani? Ngamanye amaxesha, nokuba omnye wabazali akanazo iimpawu, ziiseli zabo zesini kuphela (amaqanda okanye isidoda) ezinokuba nolu tshintsho lwemfuza. Ezinye iiseli zomzimba azinalo olu tshintsho. Oku kubizwa ngokuba yi-germline mosaicism. Kodwa oku kunqabile kakhulu.

Xa ucinga ngendlela exhaphake ngayo le meko, iSmith-Maginnis syndrome ichaphazela malunga nomntu omnye kubantu abali-15,000 ukuya kuma-25,000 kwihlabathi liphela. Oku kuthetha ukuba yimeko engaqhelekanga.

Zithini iimpawu zoku? Ungacacisa kancinci?

Iimpawu zeSmith-Magenis Syndrome zinokwahluka kumntwana ngamnye, kwaye ubunzima bazo bunokwahluka ukusuka kobuncinci ukuya kobunzima. Ezi mpawu zichaphazela iinkqubo ezahlukeneyo emzimbeni womntwana.

Iimpawu zengqondo nezomzimba

• Ukukhubazeka kwengqondo: Olu luphawu oluphambili. Kunokubakho ukulibaziseka okanye ubunzima kwizinto ezifana nokukwazi ukufunda nokuqonda.
• Ubude obufutshane: Basenokuba mfutshane kunabanye abantwana abaneminyaka efanayo.
• I-Scoliosis: Ukugoba komqolo ecaleni kunokubonakala.
• Ukuncipha kwemvakalelo yentlungu okanye ubushushu: Abanye abantwana basenokungaziva iintlungu okanye bazive beshushu okanye bebanda kakhulu njengabanye.
• Ilizwi elirhabaxa okanye elirhabaxa: Kusenokubakho utshintsho kwilizwi.
• Iingxaki zokuva kunye/okanye ukubona: Ukuphazamiseka kokuva, ukuphazamiseka kokubona (umz., ukunxiba iiglasi) kunokwenzeka.
• Ukwanda kobunzima bomzimba: Ubunzima bomzimba bunokunyuka ngokungeyomfuneko, ingakumbi ngexesha lokufikisa.

Iimpawu ezinokubonwa ngexesha lobuntwana

Ezinye iimpawu zingabonakala nasebuntwaneni:

• Ubuthathaka bemisipha / `hypotonia`: Umzimba womntwana usenokuziva utyhafile kancinci.
• Ukulibaziseka kokukhula: Imisebenzi ehambelana nobudala efana nokuphakamisa intloko, ukuqengqeleka, nokuhlala phantsi inokulibaziseka.
• Ukusabela okungekuhle: Ezinye iimpendulo ezizenzekelayo zisenokuphazamiseka.
• Iingxaki zokutyisa: Umntwana unokuba nobunzima bokuncanca okanye ukuginya.
• Ukukhala rhoqo: Usenokukhala rhoqo kunabanye abantwana.
• Ukulala ixesha elide kunye nokozela emini.

Iimpawu ezithile zobuso

Abantwana abane-Smith-Maginnis syndrome baneempawu ezahlukeneyo zobuso . Ezi mpawu zihlala zibonakala xa umntwana emdala kancinci, ekwiminyaka ephakathi yobuntwana.

• Ubuso obumile okwesikwere
• Izidlele ezipheleleyo
• Amehlo atshonileyo
• Umlomo othe tyaba/ ofinge iintshiyi phantsi
• Ibhulorho ethe tyaba yempumlo
• Ukuphuma komhlathi ongezantsi, oko kukuthi, isilevu, kuphuma kancinci.

Ngenxa yolu hlobo lobuso, abanye abantwana banokuba neengxaki zamazinyo.

Iingxaki zokulala

Oku kuyingxaki kubazali abaninzi. Iintsana, abantwana abancinci, kunye nabantu abadala abaneSmith-Maginnis syndrome bafumana iingxaki ezahlukeneyo zokulala .

• Ubunzima bokulala nokuhlala ulele.
• Ukuziva ulele kakhulu emini.
• Ukuvuka rhoqo ebusuku.

Kufunyenwe ukuba olu tshintsho kwiindlela zokulala lunxulumene notshintsho kwindlela yokukhupha i-hormone i-melatonin, elawula ukulala, emzimbeni wethu.

Iimpawu ezinxulumene neemvakalelo kunye nokuziphatha

Ezinye iimpawu ezithile zinokubonwa nakwiimvakalelo kunye nokuziphatha kwaba bantwana:

• Ubuntu obunothando kakhulu: Uyakwazi ukuziphatha ngendlela enothando kakhulu.
• Ukuzibamba: Usenokubonwa rhoqo uzibamba.
• Ukuqumba rhoqo okanye ukugqabhuka.
• Iindlela zokuziphatha ezirhabaxa: Izinto ezinje ngokuzilimaza (umz., ukuluma isandla/isandla, ukubetheka entloko) okanye ukubetha abanye.

Ngamanye amaxesha, aba bantwana banokuba nezinye iimeko zokuziphatha, ezifana ne -ADHD (Attention-Deficit/Hyperactivity Disorder) okanye i-Autism Spectrum Disorder .

Iimpawu ezinzima azibonakali rhoqo

Kwiimeko ezinqabileyo nezinzima kakhulu, ukusebenza kwentliziyo kunye nezintso zomntwana nako kunokuphazamiseka. Kunokubakho nokuxhuzula .

Kutheni iSmith-Magenis Syndrome isenzeka? Yintoni unobangela?

Eyona nto ibangela le meko kukutshintsha kwenkqubo yethu yemfuza. Ngokuchanekileyo, kukho ijini ebizwa ngokuba yi -`RAI1` (`retinoic acid-induced 1 gene`) , kwaye utshintsho kuloo jini luyimbangela yoku. Le jini ye-`RAI1` inoxanduva lokuvelisa iiproteni eziyalela iiseli emizimbeni yethu ukuba zenze imisebenzi eyahlukeneyo. Nangona le jini ingekaqondwa ngokupheleleyo, izifundo zibonisa ukuba le jini ibalulekile ekuphuhlisweni nasekusebenzeni kwamalungu ahlukeneyo omzimba womntwana. Yiyo loo nto iimpawu zesi sifo zixhaphake kangaka.

Kwiimeko ezininzi, oko kukuthi , malunga ne-90% yabantwana abane-Smith-Maginnis syndrome, inxalenye yengalo emfutshane (p) ye-chromosome 17 (i-chromosome 17) equlethe i-RAI1 gene ayikho (ukususwa) (kwindawo ye-17p11.2). Olu kususwa kwenzeka ngokuzenzekelayo okanye nge-de novo, oko kukuthi, xa iqanda likamama kunye nesidoda sikatata zidibana ngexesha lokukhulelwa.

Kunqabile kakhulu ukuba iziqwenga zechromosome ziqhekeke zize zijikeleze (translocation) ngexesha lokukhula kwasekuqaleni kombungu. Kwi-10% eseleyo yabantwana, endaweni yokuba i-RAI1 gene ingabikho, utshintsho lwenzeka kwi-gene ngokwayo . Oku kubangela utshintsho kwisakhiwo se-DNA yomntwana kuloo ndawo ithile ye-genetic.

Ifunyaniswa njani le meko? (Ukuxilongwa)

I-Smith-Magenis Syndrome idla ngokuchongwa ngexesha lobuntwana, xa iimpawu zibonakala ngakumbi. Ugqirha womntwana wakho uza kukubuza ngeempawu zomntwana wakho, athathe imbali epheleleyo yezonyango, aze ahlole umntwana wakho.

Uvavanyo lwegazi oluvela kwimfuza lubalulekile ukuqinisekisa le meko nokuthintela ezinye iimeko ezineempawu ezifanayo.

Ziziphi iindlela zonyango lweSmith-Magenis Syndrome?

Unyango lwale meko lugxile ekunciphiseni iimpawu zomntwana nokumnceda aphile kakuhle kangangoko kunokwenzeka. Iindlela zonyango zinokwahluka kumntwana ngamnye.

Nazi ezinye iindlela zonyango eziqhelekileyo:

• Ukuthumela umntwana kwiinkqubo zokungenelela kwangethuba ngaphambi kokuba abe neminyaka emi-3 kunye neenkqubo zemfundo emva kweminyaka emi-3. Ezi zinceda umntwana ukuba oyise amanyathelo okukhula kunye nemfundo.
• Khuthaza umntwana ukuba athathe inxaxheba ngokukhutheleyo ekhaya naseluntwini.
• Ukufumana unyango lwangaphandle . Umzekelo:
• Unyango lolwimi lwentetho
• Unyango lokuziphatha
• Ulungiso lwenyama
• Unyango lomsebenzi
• Ukunika amayeza kwiimpawu zezinye iimeko ezifanayo, ezifana ne-ADHD okanye iingxaki zokulala.
• Ukunxiba iiglasi xa uneengxaki zokubona.
• Ukufakwa kweetyhubhu zendlebe ngotyando ukuthintela usulelo lwendlebe nokujonga ukulahleka kokuva.
• Gcina ukutya okunempilo nokulinganiselayo kwaye uzilolonge rhoqo ukuze ulawule ubunzima.

Ugqirha womntwana wakho uza kudala isicwangciso sonyango esilungiselelwe umntwana wakho.

Iqela lonyango

Ngenxa yokuba aba bantwana baneempawu ezichaphazela amalungu ahlukeneyo emizimba yabo, unyango lunokufuna iqela loogqirha kunye neengcali zempilo ezahlukeneyo . Eli qela lingabandakanya:

• Iingcali zabantwana kunye nezinye iingcali zabantwana
• Ugqirha (ukuba kuyimfuneko)
• Ingcali yamehlo
• Ingcali ye-Audiologist
• Ingcali yezengqondo
• Ingcali yesondlo
• Ingcali yezifo zentetho
• Ingcali yezonyango zomsebenzi kunye nengcali yezonyango zomzimba

Ngaba iMelatonin iyanceda kwiingxaki zokulala?

IMelatonin yihomoni eveliswa yimizimba yethu esinceda silale. Izongezo zeMelatonin zinokunceda umntwana wakho alale kwaye zilawule umjikelo wakhe wokulala nokuvuka. Ukuba umntwana wakho unengxaki yokulala ngenxa yeSmith-Magnis syndrome, thetha nogqirha wakho malunga nokumnika isongezo seMelatonin ngaphambi kokuba alale ukuze amncede alale kakuhle ebusuku. Kodwa ungaqali nantoni na ngaphandle kokubuza ugqirha wakho kuqala, kulungile?

Ngaba le meko ingathintelwa?

Ngelishwa, iSmith-Magenis Syndrome ayinakuthintelwa.Ngenxa yokuba esi sisifo semfuza, utshintsho kwi-DNA yomntwana lwenzeka ngokungacwangciswanga kwaye lungalindelekanga. Nangona kunjalo, kukho iindlela ezininzi zonyango, zomzimba, kunye nokuziphatha ezinokunceda umntwana ukuba alawule iimpawu aze aphile ubomi obupheleleyo.

Yintoni endinokuyilindela ukuba umntwana wam unale meko? (Ingqikelelo)

Ukuba umntwana une-Smith-Maginnis syndrome, uqikelelo lwesifo luxhomekeke kubukhali beempawu. Abanye abantu abanale meko banokuphila ngokuzimela kancinci ngenkxaso encinci evela kusapho, abahlobo kunye nabanakekeli. Banokuphila ubomi obuqhelekileyo.

Nangona kunjalo, abanye abantwana banokufuna inkxaso engakumbi ubomi babo bonke. Basenokuba ngcono xa behlala kwiqela okanye kwindawo yokhathalelo lwempilo. Baza kufuna ulawulo lweempawu ubomi babo bonke kunye nonyango lokuthintela ukuze bancede umntwana aphile ubomi obusempilweni nobanelisayo.

Ngaba iSmith-Magenis Syndrome inganyangeka ngokupheleleyo?

Hayi, iSmith-Magenis Syndrome ayinakunyangwa ngokupheleleyo kuba ibangelwa lutshintsho olungalindelekanga kwi-DNA yomntwana. Nangona kunjalo, iqela lezonyango lomntwana wakho liya kubonelela ngeendlela zonyango ezizodwa ukunceda ukulawula iimpawu ebomini bakhe bonke.

Ngawaphi amaxesha ekufuneka ubone ugqirha ngawo?

Ukuba umntwana wakho ubonakalisa naziphi na kwezi mpawu, bonana nogqirha ngokukhawuleza:

• Ukuba umntwana uyazilimaza okanye unomsindo kakhulu.
• Ukuba amanyathelo ophuhliso afanele ubudala alahlekile.
• Ukuba ubonakalisa uxinzelelo okanye ukukhubazeka okukhulu ekhaya okanye esikolweni.
• Ukuba awukwazi ukulala ebusuku okanye unengxaki yokuhlala uphaphile emini.

Kufuneka uye nini kwiYunithi yoNyango oluNgxamisekileyo (i-ETU) ?

Yiya kwigumbi likaxakeka ngoko nangoko xa kukho le meko:

• Ukuba umntwana unesithuthwane.
• Ukuba ukubetha kwentliziyo akuhambelani kakuhle.
• Ukuba umntwana akatyi okanye ubonakala ephelelwe ngamanzi emzimbeni.

Yeyiphi imibuzo ebalulekileyo ekufuneka uyibuze ugqirha?

Xa undwendwela ugqirha, ungabuza imibuzo efana nale:

• Ndingamxhasa njani umntwana wam?
• Ndingenza ntoni ukuba umntwana wam uphoswa ziindlela zokukhula?
• Zeziphi iimpawu ekufuneka ndiziqaphele ngokukodwa?
• Ndingamkhusela njani umntwana wam xa enomsindo?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga kunyango olucetyiswayo?

Ekugqibeleni, umyalezo wokubuyela ekhaya

Ukufumanisa ukuba umntwana wakho unale meko yokukhula kunokuba nzima kakhulu. Kuqhelekile kakhulu. Awuwedwa. Ukujoyina amaqela enkxaso apho abazali nabanakekeli babantwana abanale meko bedibana khona kunokukunika amandla amakhulu, ulwazi, kunye nokwabelana ngamava.

Nangona kungekho nyango lweSmith-Magenis Syndrome, kukho inkxaso yobomi bonke ekhoyo ukunceda umntwana wakho afikelele kumandla akhe apheleleyo kwaye alawule iimpawu zakhe. Iqela lezonyango lomntwana wakho liza kukukhokela koku. Musa ukunikezela!

Isifo sikaSmith -Magenis, isifo sikaSmith-Magenis, isifo semfuza, ukulibaziseka kokukhula, iingxaki zokuziphatha, iingxaki zokulala, i-RAI1 gene