Ngaba umntwana wakho unazo ezi mpawu? Masithethe ngeFragile X Syndrome (FXS)

Usenokuba uqaphele ukuba umntwana wakho omncinci unengxaki yokulibaziseka kokukhula okanye ezinye zeendlela zakhe zokuziphatha zingaqhelekanga. Mhlawumbi ufika kade ekuthetheni, okanye akafuni kunxulumana nabanye abantwana. Ngamanye amaxesha, emva kwezi zinto, kunokubakho imeko ebizwa ngokuba yiFragile X Syndrome (FXS). Musa ukoyika xa usiva eli gama. Masithethe ngalo ngokweenkcukacha namhlanje, ngendlela elula kakhulu, kulungile?

Yintoni iFragile X Syndrome?

Ngamafutshane, iFragile X Syndrome yimeko yemfuza edluliselwa kwizizukulwana ngezizukulwana . Inokubangela ukuba umntwana abe notshintsho oluthile emzimbeni, iingxaki zokuziphatha, kunye nezinye iingxaki zempilo. Umzekelo:

• Ukulibaziseka kokukhula komntwana.
• Ukukhubazeka kwengqondo.
• Ukukhubazeka kokufunda.
• Ukuxhalaba rhoqo.
• Ubunzima bokunikela ingqalelo kunye nokusebenza kakhulu, imeko eyaziwa ngokuba yi-Attention-deficit/hyperactivity disorder (ADHD).
• Isenokubonisa neempawu zesifo se-autism spectrum disorder.

Ibizwa ngokuba yi-"Fragile X" kuba xa i-chromosome ye-X ijongwa nge-microscope, inxalenye yayo ibonakala "iphukile" okanye "ibuthathaka." Elinye igama layo yi-Martin-Bell syndrome. Le yenye yezona ngxaki zixhaphakileyo zengqondo nezophuhliso (ii-IDD).

Ixhaphake kangakanani le meko?

Abaphandi abaqinisekanga ukuba bangaphi abantu emhlabeni abaneFragile X Syndrome, kodwa baqikelela ukuba malunga nentombazana enye kwi-11,000 kunye nenkwenkwe enye kwi-7,000 banokuba nale meko.

Zithini iimpawu zeFragile X Syndrome?

I-Fragile X Syndrome inokuchaphazela ingqondo yomntwana wakho, impilo yakhe yengqondo, inkangeleko yakhe yomzimba, kunye nokuziphatha kwakhe. Makhe sijonge ukuba zeziphi iimpawu eziqhelekileyo kwicandelo ngalinye.

Iingxaki ezinxulumene nobukrelekrele

• Ubunzima bokufunda: Kunokuba nzima ukufunda nokukhumbula izinto ezintsha.
• Ukwehla kwe-IQ: Njengoko abantu bekhula, amanqaku abo e-IQ anokwehla kancinci.
• Iziganeko zokukhula ezibambezelekileyo ebuntwaneni: Umzekelo, basenokuba bafike emva kwexesha kunabanye abantwana ekuqaliseni ukuhamba, ukuthetha, nokutya ngokwabo.
• Ukuphazamiseka konxibelelwano olungenamazwi: Oku kuthetha ukuba kunokuba nzima ukuveza izimvo usebenzisa izimbo zomzimba, ubuso, kunye nezinye iimpawu ezingenanto yakwenza namazwi.
• Iingxaki zokuqonda nokuthetha ulwimi:Xa sele eneminyaka emibini ubudala, ungabona ukuba umntwana wakho uneengxaki zokuthetha nokuqonda amagama.
• Ubunzima bokusombulula iingxaki zezibalo.

Qiniseka ukuba ujonga ukukhula komntwana wakho ukuba akukho nanye kwezi ngxaki. Kubalulekile ukuthetha nogqirha wakho malunga neziganeko zokukhula ezifanelekileyo kubudala ngabunye kunye nendlela yokuzivavanya ngokufanelekileyo.

Iingxaki zempilo yengqondo

• Ukuxhalaba rhoqo.
• Iimeko ezinje ngokudakumba .
• Imfuneko enkulu yokuphinda okanye yokucinga ngezinto ezithile (iindlela zokuziphatha ezinyanzelisayo).

Iimpawu zomzimba

Ezi mpawu azibonakali kuye wonke umntu, kodwa ezinye zezona mpawu zixhaphakileyo zezi:

• Ubuso obude, obumxinwa.
• Ibunzi elikhulu.
• Ingxaki enkulu.
• Iindlebe ezinkulu.
• Amehlo anqamlezileyo (strabismus).
• Iminwe iguquguquka kakhulu, okanye "idibene kabini".
• Iinyawo ezithe tyaba.
• Amasende abafana ayanda emva kokufikisa.
• Inkalakahla egobileyo.
• Ukungabikho kwamandla emisipha (hypotonia), oko kuthetha ukuba umzimba usenokuziva utyhafile kancinci.

Zithini iingxaki zokuziphatha?

I-Fragile X Syndrome inokubangela iingxaki ezahlukeneyo zokuziphatha emntwaneni. Umzekelo:

• Ubunzima bokunikel’ ingqalelo kunye nokusebenza ngokugqithisileyo (ADHD).
• Ukuxhalaba kunye neentloni. Khawucinge nje, xa usiya kwitheko endlwini yesalamane, uhlala kude nabanye abantu kwaye ujonge phantsi xa umntu ethetha.
• Ukuziphatha okuphindaphindwayo okufana nokuqhwaba izandla okanye ukuluma ngesandla.
• Ukungafuni ukujongana emehlweni.
• Ukuphazamiseka kweemvakalelo - Oku kuthetha ukuba usenokuba novakalelo olukhulu kwizinto ezifana neendawo ezixineneyo, umntu ochukumisa umzimba wakho, ingxolo, ukutya okuthile, kunye neendwangu. Ngamanye amaxesha unokothuka nasisandi esincinci, okanye ungathi awukwazi ukutya ukutya okuthile.
• Ubunzima bokuqonda iimvakalelo zabanye abantu kunye neempawu zentlalo.

Yintoni ebangela iFragile X Syndrome?

Oku kungenxa yotshintsho lwemfuza kwijini ethi `FMR1` ekwi-chromosome yethu eyi-X. Le jini ethi `FMR1` iyalela umzimba wethu ukuba wenze iproteni ebizwa ngokuba yi`FMRP`. Le protein ethi `FMRP` ibaluleke kakhulu ekuphuhlisweni konxibelelwano `(synapses)` phakathi kweeseli zemithambo-luvo. Kungezi `synapses` apho ii-nerve impulses `(nerve impulses)` zihamba khona.

Ngenxa yokuguquka kwezakhi zofuzo ze-FMR1, icandelo le-DNA elibizwa ngokuba yi-CGG triplet repeat liba lide kakhulu kunesiqhelo. Ngokwesiqhelo, eli candelo liphinda malunga nezihlandlo ezi-5 ukuya kwezingama-40, kodwa kubantu abaneFragile X Syndrome, liphinda ngaphezu kwezihlandlo ezingama-200 .Oku kubangela ukuba i-gene ye-`FMR1` "ivalwe", oko kuthetha ukuba ayinakukwazi ukwenza iproteni ye-`FMRP` ngokufanelekileyo. Oku kuchaphazela inkqubo yemithambo-luvo yomntwana kwaye kubangela iimpawu zeFragile X Syndrome.

Oku kudluliselwa njani kwisizukulwana esinye ukuya kwesinye? (Ipateni yelifa)

I-Fragile X Syndrome ifunyanwa njengelifa kwi-X-linked dominant pattern. Oku kuthetha ukuba i-mutated gene eyibangelayo ikwi-X chromosome. "Iyalawula" kuba nokuba nekopi enye ye-mutated gene kwanele ukubangela esi sifo.

I-Fragile X Syndrome ixhaphake kakhulu kubafana kwaye ineempawu eziqatha ngakumbi kuba bane-chromosome enye ye-X kuphela. Amantombazana anee-chromosome ezimbini ze-X . Ngoko ke, nokuba i-chromosome enye ye-X inotshintsho oluthile, enye i-chromosome ye-X esempilweni isenokungabonakalisi zimpawu kwaye isenokuba ngumthwali kuphela. Nangona kunjalo, amakhwenkwe ane-Fragile X ahlala eba neempawu.

Ngaba kukho ezinye iingozi zempilo kubantu abathwala iFragile X?

Ewe, kubaluleke kakhulu. Ukuba umntwana wakho uneFragile X Syndrome, kufuneka uxelele ugqirha wakho ngayo. Ngenxa yokuba usenokuba ngumnini wale ntsholongwane, usenokuba neengozi zempilo ezandileyo, ezinje:

• Ukuya exesheni kwenzeka ngaphambi kokuba ufikelele kwiminyaka engama-40 ubudala.
• Izifo ezinxulumene nenkumbulo ezifana ne-dementia.
• Igazi elonyukayo.
• Uxinzelelo.
• Ixhala.
• Iintloko ezibuhlungu.
• Ukungasebenzi kakuhle kwe-thyroid gland (i-Hypothyroidism).
• Intlungu engapheliyo.
• Ukuphelelwa ngamandla xa ulele.

Ziziphi iingxaki ezinokubakho zeFragile X Syndrome?

Ngamanye amaxesha abantu abaneFragile X Syndrome banokuba nezinye iingxaki zempilo. Kolunye uphando, abazali baxele ukuba nabantwana babo nabo banazo:

• Ukuxhuzula.
• Iingxaki zokulala. Olunye uphando lufumanise ukuba abantwana aba-4 kwaba-10 abaneFragile X kunye ne-autism spectrum disorder babeneengxaki zokulala, xa kuthelekiswa nabantwana aba-3 kwaba-10 abaneFragile X yodwa.
• Ubundlobongela okanye ukucaphuka. Abantwana abaneFragile X, ingakumbi abo bane-autism spectrum disorder, banamathuba amaninzi okuba nobundlobongela.
• Iindlela zokuziphatha zokuzilimaza.
• Ukutyeba kakhulu.

Ifunyanwa njani iFragile X Syndrome?

Ukuze kufunyaniswe iFragile X Syndrome, kuthathwa isampuli ye-DNA egazini lomntwana wakho okanye kwezinye izicwili.Ugqirha uza kuthatha isampuli aze ayithumele kwilebhu. Apho, baza kujonga ukuba umntwana unayo na inguqu ekhankanyiweyo ngaphambili kwijini ethi `FMR1`.

Ukuba ukhulelwe kwaye ukrokrela ukuba umntwana wakho usenokuba neFragile X Syndrome, ungadibana nomcebisi wezofuzo kwaye wenze uvavanyo lokukhulelwa olufana nolu:

• I-Amniocentesis: Oku kuquka ukuthatha isampuli yolwelo lwe-amniotic esibelekweni uze uluvavanye.
• Ukuthatha isampuli ye-Chorionic villus: Oku kuquka ukuthatha isampuli yeeseli kwi-placenta nokuzivavanya.

Esi sifo sidla ngokufunyaniswa xa sineminyaka emingaphi ubudala?

Uninzi lwabafana lufunyaniswa lunesifo xa luphakathi kweenyanga ezingama-35-37 ubudala . Amantombazana anokufunyaniswa emva kwexesha, xa luphakathi kweenyanga ezingama-42 ubudala . Nangona kunjalo, unokubona ezinye iimpawu kwasekuqaleni kweenyanga ezili-12.

Yeyiphi imibuzo enokubuzwa ngugqirha ukuze ancede ekuxilongweni kwesi sifo?

Ngaphambi kokuba ugqirha womntwana wakho okanye umcebisi wezemfuza amyalele uvavanyo lweFragile X Syndrome, basenokukubuza imibuzo efana nale:

• Zeziphi iimpawu ozibonileyo kumntwana wakho?
• Umntwana wakho ufunda njani izinto ezintsha?
• Ngaba umntwana wakho uneentloni?
• Ngaba umntwana wakho unengxaki yokulala?
• Ngaba umntwana wakho uhlala exhalabile?
• Ngaba umntwana wakho uyakuphepha ukujongana naye emehlweni?
• Ngaba umntwana wakho uneempawu ezingaqhelekanga emzimbeni wakhe?
• Injani indlela yomntwana wakho yokuthetha?

Ngaba iFragile X Syndrome ingafunyanwa xa umntu emdala?

Nangona iFragile X Syndrome idla ngokuchongwa ebuntwaneni, kukho ezinye izifo ezimbini kusapho lweFragile X ezichaphazela abantu abadala. Nazi:

• I-Fragile X-associated tremor/ataxia syndrome (FXTAS): Iimpawu ziquka iingxaki zokulinganisela, ukuxhawula izandla, ukungazinzi kweemvakalelo, ukulahlekelwa yinkumbulo, iingxaki zokucinga, kunye nokungabi nangqondo kwamalungu omzimba.
• Ukungabikho kakuhle kwe-ovarian okubangelwa yi-Fragile X-associated primary ovarian insufficiency (FXPOI): Iimpawu ziquka ukuncipha kokuzala, ubunzima bokukhulelwa, ukuya exesheni ngendlela engaqhelekanga okanye engekho rhoqo, kunye nokuya exesheni ngaphambi kwexesha.

Ukuba uneempawu ezinje, kungcono ukuthetha nogqirha.

Inyangwa njani iFragile X Syndrome?

Akukho ndlela ikhethekileyo yonyango lweFragile X Syndrome.Nangona kunjalo, iimpawu zale meko zinokunyangwa. Ugqirha womntwana wakho unokukunika amayeza ahlukeneyo. Nazi ezinye zemizekelo, ezahlulwe ngokweempawu:

• Ukuxhuzula okanye ukungazinzi kweemvakalelo:
• I-lithium carbonate
• IGabapentin (Neurontin®)
• Kwi-ADHD:
• I-Methylphenidate (iRitalin®, iConcerta®) kunye ne-dextroamphetamine (iAdderall®, iDexedrine®)
• I-Venlafaxine (Effexor®) kunye ne-nefazodone (Serzone®)
• Kwisifo sokungakhathali (OCD):
• I-Fluoxetine (Prozac®)
• I-Sertraline (Zoloft®) kunye ne-citalopram (Celexa®)
• Kwiingxaki zokulala:
• I-Trazodone (iDesyrel®)
• I-Melatonin

Olu luluhlu nje oluncinci lwamayeza anokuthi ugqirha wakho akunike wona. Qiniseka ukuba uxoxa nogqirha wakho ngemiphumo emibi enokubakho kunye neengxaki zamayeza onke.

Ukongeza kumayeza, ugqirha udla ngokucebisa unyango lwengqondo , oluluhlobo lonyango olunceda umntwana aphile nale meko aze alawule indlela aziphethe ngayo.

Liyintoni ikamva labantu abaneFragile X Syndrome?

Abanye abantu abaneFragile X Syndrome bayakwazi ukuphila ngokuzimela. Izifundo zibonisa ukuba malunga namantombazana ama-4 kwali-10 kunye nomfana omnye kwali-10 oneFragile X bakhula bezimele kakhulu. Amantombazana anamathuba amaninzi kunamakhwenkwe okuba:

• Ukufunda iincwadi ezineengcinga ezintsha namagama amatsha.
• Ukuthetha izivakalisi ezintsonkothileyo.
• Ukuthetha ngesantya esiqhelekileyo.

Isifo seFragile X sidla ngokuba sibi kakhulu kubafana. Malunga namantombazana asi-8 kuma-20 aneFragile X akadingi ncedo ngemisebenzi yemihla ngemihla. Kodwa ngumfana omnye kuphela kuma-20 odinga uncedo. Nangona amantombazana amaninzi ephumelela kwisikolo samabanga aphakamileyo, uninzi lwabafana alufuni ncedo. Malunga nesiqingatha sabasetyhini abaneFragile X basebenza ixesha elizeleyo, kodwa ngabafana ababini kuphela kuma-10 abadinga uncedo.

Ngaba umntwana wam angaya kwisikolo sabantwana abagcina abantwana?

Ewe, kodwa umntwana wakho usenokufuna indawo ekhethekileyo yokugcina abantwana okanye esikolweni. Ezinye iindawo zesikolo kunye negumbi lokufundela zinokufuna ukulungiswa ukuze zihambelane neemfuno zakhe. Utitshala womntwana wakho unokukwazi ukwenza uhlengahlengiso oluthile kwimeko-bume kunye nekharityhulam.

Utshintsho olunxulumene nokusingqongileyo:

• Ukugcina ungcoliseko lwengxolo lukwinqanaba eliphantsi.
• Ukugcina ukukhanya kwendalo kufumaneka.
• Ukuphepha iindawo ezixineneyo.

Utshintsho olunxulumene nesilabhasi:

• Ukusebenzisa izixhobo ezibonakalayo ezifana nemizobo, amaphepha okufaka imibala, kunye nemifanekiso.
• Ukunceda abantwana bafunde ngokusebenzisa izixhobo abazifumana zinomdla kakhulu .
• Ukuqondisa umntwana ukuba asebenze ngamaqela amancinci .

Qiniseka ukuba wazisa isikolo ukuba umntwana wakho uneFragile X Syndrome. Thetha notitshala ngeemfuno zakhe ezizodwa. Ungafuna ukubona ingcali yezengqondo yesikolo kunye/okanye umcebisi. Basebenza nabantwana abangaphezu kweminyaka emi-3 ubudala. Ezinye iingcali onokufuna ukunxibelelana nazo ziquka:

• Iingcali zonyango emsebenzini
• Iingcali zonyango lokuziphatha
• Iingcali zezifo zolwimi lwentetho
• Abasebenzi bezentlalo

Buza isikolo sakho sasekuhlaleni kunye nababoneleli bezempilo ngolwazi oluthe kratya malunga noku.

Ihlala ixesha elingakanani iFragile X Syndrome? Ingakanani ixesha omele uliphile?

I-Fragile X Syndrome yimeko ehlala ubomi bonke. Akukho ndlela ithile yokunyanga loo ngxaki.

Nangona kunjalo, akukho nanye kwezi mpawu zeFragile X Syndrome esongela ubomi. Ngenxa yoko, ubomi baba bantu bufana nobomntu oqhelekileyo.

Ngaba iFragile X Syndrome ingathintelwa?

Hayi, iFragile X Syndrome yimeko yemfuza kwaye ayinakuthintelwa. Ukuba uceba ukukhulelwa, okanye sele ukhulelwe, kuyafaneleka ukuthetha nomcebisi wemfuza malunga nomngcipheko wokuba umntwana wakho afumane esi sifo njengelifa.

Bunjani ubomi ngeFragile X Syndrome?

I-Fragile X Syndrome ayichaphazeli bonke abantwana ngendlela efanayo. Iqela lezonyango lomntwana wakho lingakunika umbono ongcono wendlela eza kumchaphazela ngayo umntwana wakho kunye nosapho lwakho. Nangona ezinye iinkalo zemeko zinokuba nzima, kukwakho neempawu ezininzi ezintle. Umzekelo, abaphandi babone abantu abaneFragile X:

• Iluncedo.
• Uhlobo.
• Ukucinga ngabanye abantu.
• Unobuhlobo.
• Ingalinganiswa kakuhle.
• Inkumbulo yokubona kunye nenkumbulo yexesha elide zilungile.
• Ndiyazithanda iintlekisa kwaye ndizifumana zihlekisa.

Ndingamnceda njani umhlobo/ilungu losapho oluneFragile X Syndrome?

Yiba nolwazi kangangoko unako. Khangela amaqela enkxaso kunye nezixhobo zoluntu ezinokukunceda wena kunye nawo. Iinkqubo zezakhono zobomi zingaba zifanelekile. Ezinye zibonelela ngesikhokelo kwizinto ezinje:

• Imisebenzi yentlalo.
• Isondo.
• Izinto ozithandayo.
• Imfundo.
• Imisebenzi.

Kubaluleke kakhulu ukuba uthethelele umntwana wakho ukuqinisekisa ukuba ufumana unyango aludingayo kwaye unobomi obusemgangathweni ophezulu.

Ndifanele ndimse nini umntwana wam kugqirha?

Yisa umntwana wakho kugqirha wabantwana ngokukhawuleza nje ukuba uqaphela iimpawu zeFragile X Syndrome. Musa ukulibazisa, kuba ukungenelela kwangoko kubaluleke kakhulu.

Ndingayibuza yiphi imibuzo ugqirha?

Nazi ezinye imibuzo onokuzibuza ugqirha wakho xa uxoxa ngesifo sakho:

• Ngaba umntwana wam kufuneka aye kwingcali?
• Luhlobo luni lweengcali zonyango umntwana wam afanele alubone?
• Ingakanani ingozi yeFragile X Syndrome?
• Ngawaphi amayeza afanelekileyo kumntwana wam?
• Ndingamnceda njani umntwana wam?
• Ziziphi iindlela zam zokungenelela kwangethuba?
• Singamnceda njani umntwana wam njengentsapho?

Ukuxilongwa kweFragile X Syndrome kunokuba nzima kuwe nakumntwana wakho. Kukuqala kotshintsho oluninzi kunye nohlengahlengiso. Izinto ezinje ngonyango, amayeza, kunye nokwamkelwa esikolweni ngoku ziyinxalenye yobomi bomntwana wakho. Ngelixa unceda umntwana wakho, ungalibali iimfuno zakho. Khumbula, ukuba nomntwana wakho oneFragile X Syndrome kuthetha ukuba usengozini enkulu yezinye iimeko zempilo ezininzi, ezinje ngokudakumba kunye nemigraines.

Okokugqibela, izinto ekufuneka uzikhumbule

Ngoko ke, sithethe kakhulu ngeFragile X Syndrome namhlanje. Nazi izinto ezibalulekileyo ekufuneka uzikhumbule:

• Le yimeko yemfuza , oko kuthetha ukuba yinto edluliselwa kwizizukulwana ngezizukulwana.
• Oku kubomi bonke , kodwa iimpawu zinokulawulwa.
• Ukuxilongwa kwangoko, unyango kwangoko, kunye nokuqaliswa kweenkonzo zonyango eziyimfuneko kubaluleke kakhulu ekukhuleni komntwana.
• Njengomntwana, udinga inkxaso. Kunzima ukujongana nezi zinto wedwa.
• Nangona kukho imingeni kule meko, aba bantwana banezinto ezininzi ezintle kunye nezakhono.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unemibuzo engaphezulu, nceda uzive ukhululekile ukuthetha nogqirha wakho.

` isifo se-fragile x, i-fxs, isifo semfuza, ukulibaziseka kophuhliso, ukukhubazeka kwengqondo, impilo yomntwana, ukukhubazeka kokufunda