Yintoni i-Apert Syndrome? Ngaba umntwana wakho unazo ezi mpawu? Masithethe!

Ngaba ukhe waphawula naziphi na iimpawu ezingaqhelekanga kwimo yentloko yosana lwakho olusandul’ ukuzalwa, ebusweni, okanye emalungeni? Ngamanye amaxesha, njengabazali, siyakhathazeka kancinci xa sibona ezi zinto, akunjalo? Kuqhelekile kakhulu. Namhlanje, siza kuthetha nge- Apert syndrome , imeko engaqhelekanga enokuchaphazela iintsana ezizalwa zinezinye zezi nguqu zomzimba. Ungakhathazeki, masichaze yonke into ngokulula.

Yintoni kanye kanye i-Apert Syndrome?

Ngamafutshane, i-Apert syndrome yimeko engaqhelekanga apho amalungu aphakathi kwamathambo ekhanda lomntwana wakho, okanye oko sikubiza ngokuba yi-'sutures', adibana khona ngaphambi kokuba akhule . Oogqirha bakubiza oku ngokuba yi-craniosynostosis . Xa i-sutures ivala ngokukhawuleza, i-skull ayinandawo yaneleyo yokukhula njengoko ingqondo yomntwana ikhula. Oku kunokubangela utshintsho kungekuphela nje kwimo yekhanda, kodwa nakwizinto ezifana namathambo obuso, iminwe, kunye neenzwane.

Cinga ngayo njengomthi omncinci okhula emngxunyeni emhlabeni, kwaye awunakukhula ngokukhululekileyo. Le yimeko yemfuza , oko kuthetha ukuba ibangelwa kukutshintsha kwemfuza. Ngamanye amaxesha inokufunyanwa njengempawu 'elawulayo' . Oku kuthetha ukuba ukuba omnye umzali unotshintsho lwemfuza, kukho amathuba angama-50% okuba nomntwana wakhe abe nale meko.

Ngubani ochaphazeleka yi-Apert Syndrome?

I-Apert syndrome yimeko engaqhelekanga kakhulu. Idla ngokubangelwa kukuguquka kwezakhi zofuzo okwenzeka kwasekuqaleni kokukhulelwa. Olu tshintsho lunokufunyanwa kubazali okanye lunokwenzeka de novo. Into ebalulekileyo kukuqonda ukuba oku akuyonto umama ayenzileyo ngexesha lokukhulelwa, kwaye akuyonto eyenzeka kuye. Ngoko ke ungazibeki tyala.

Kuqheleke kangakanani oku?

Oku kunqabile kakhulu. Ngokwezibalo, malunga nenye kuphela kwiintsana ezingama-65,000 ezizalwayo ene-Apert syndrome. Ngoko ke ungabona ukuba le meko ayiqhelekanga kangakanani.

Zithini iimpawu zomntwana one-Apert Syndrome?

Ngenxa yokuba imithungo ekhakhayini lomntwana ivaleka ngaphambi kwexesha, imeko ebizwa ngokuba yi-craniosynostosis, umntwana unokuba neempawu ezithile ezahlukileyo. Ezi mpawu zinokwahluka kancinci kumntwana ngamnye. Iimpawu eziphambili ezinokubonwa zezi:

• Ukhakhayi:
• Intloko yomntwana ingabonakala inde kunesiqhelo, inencam etsolo (oku kubizwa ngokuba yi-acrocephaly) .
• Umva wentloko usenokuba uthe tyaba.
• Ibunzi lingabonakala liphezulu okanye libanzi.
• 'Indawo ethambileyo' okanye 'i-follicle' entlokweni yomntwana isenokulibaziseka xa ivalwa.
• Amehlo:
• Amehlo anokuba aqhelene kakhulu ebusweni kunesiqhelo.
• Amehlo asenokubonakala evuvukile okanye ethe tyaba ezantsi.
• Ubuso:
• Impumlo inokuba tyaba okanye ifane nomlomo.
• Kusenokuba kukho incakuba eqhekekileyo .
• Ubuso busenokubonakala bungalingani kumacala omabini.
• Izandla neenyawo:
• Iminwe isenokuba mfutshane kwaye ubhontsi omkhulu unokuba banzi.
• Iminwe okanye iinzwane zinokudityaniswa okanye ziqhagamshelwe lulusu (oku kubizwa ngokuba yi-syndactyly) , njengewebhu yokudada.

Khumbula, ayingomntwana ngamnye oza kuba nazo zonke ezi mpawu. Ngugqirha onokuzibona ngokuchanekileyo ezi mpawu aze azixilonge.

I-Apert Syndrome iwuchaphazela njani umzimba womntwana?

Le meko ayibangeli nje kuphela utshintsho kwinkangeleko yomntwana, kodwa inokuchaphazela nezinye izitho zomzimba.

• Ubuchopho: Njengoko ukhakhayi luvala ngokukhawuleza, uxinzelelo lunokwakheka engqondweni. Oku kunokuchaphazela izakhono zokufunda nokucinga zomntwana ( uphuhliso lokuqonda ). Ukukhubazeka kwengqondo okuncinci ukuya kokuphakathi nako kunokwenzeka.
• Iindlebe: Amaxesha amaninzi, amathambo kumacala omabini entloko yomntwana ngawona aqala ukuvala. Oku kunokuchaphazela indlela ezikhula ngayo iindlebe, nto leyo ekhokelela kwiintsholongwane zendlebe rhoqo okanye ukulahlekelwa kukuva.
• Amehlo: Iingxaki zokubona zinokubangelwa ngamehlo avele ngaphandle, athambekileyo, okanye aqheleneyo.
• Imiphunga: Ngokuxhomekeke kubunzima bemeko, imilo yempumlo inokubangela ubunzima bokuphefumla okanye i-sleep apnea ( ukufuthaniseka ngenxa yokuvaleka kwendlela yomoya ngexesha lokulala).
• Ulusu: Ulusu lomntwana wakho lunokuvelisa ioyile engakumbi, nto leyo enokubangela ukuba kubekho i-acne enzima. Ungaqaphela nokubila kakhulu ( hyperhidrosis ) kunye nokulahleka kweenwele kwezinye iindawo (umzekelo, phantsi kwamashiya).
• Amazinyo: Xa umntwana eqala ukuba namazinyo, akukho sithuba saneleyo emlonyeni kwaye amazinyo anokuba nzima kakhulu. Oku kunokubangela iingxaki zamazinyo. Amanye amazinyo asenokungabikho kwaye kunokubakho ukungalungelelani kwi-enamel yamazinyo.

Yintoni ebangela i-Apert Syndrome?

Isizathu esiphambili soku yi- FGFR2 (i-Fibroblast growth factor receptor-2).Utshintsho kwijini olubizwa ngokuba yi-fibroblast growth factor. Le jini inoxanduva olukhulu lophuhliso lwenkqubo yamathambo emzimbeni wethu. Xa le jini iguqukile, la ma-receptor awanxibelelani kakuhle nemiqondiso ebizwa ngokuba yi-'fibroblast growth factors'. Ngenxa yoko, amalungu (i-sutures) phakathi kwamathambo avala ngokukhawuleza ngexesha lesigaba somntwana osandul' ukuzalwa. Nangona la ma-suture evala ngokukhawuleza, ingqondo yomntwana iyaqhubeka nokukhula. Emva koko amathambo ekhanda, ingakumbi amathambo ebunzini nasemacaleni entloko, akhiwa ngendlela engaqhelekanga. Ukwakheka okungaqhelekanga kwala mathambo yikona okubangela ukukhubazeka okwahlukeneyo emzimbeni.

Ifunyanwa njani i-Apert Syndrome?

Uninzi lwexesha, le meko ifunyaniswa emva kokuba umntwana ezelwe. Nangona kunjalo, ngamanye amaxesha inokufunyaniswa kwangethuba ngexesha lokukhulelwa, ngokujonga ukukhula kwethambo lomntwana nge -2D okanye i-3D ultrasound yokukhulelwa okanye i-MRI scan .

Emva kokuba umntwana ezelwe, ugqirha uya kwenza uvavanyo olupheleleyo lomzimba ukujonga naziphi na iingxaki emzimbeni womntwana. Emva koko, kuya kwenziwa iimvavanyo zomfanekiso , ezifana ne-CT scan okanye i-MRI , ukuqinisekisa ezi ziphene zokuzalwa.

Ugqirha uza kucebisa novavanyo lwemfuza . Oku kuza kujonga utshintsho kwi-gene ye-FGFR2 ekhankanyiweyo ngaphambili. Oku kuza kuqinisekisa ngakumbi ukuxilongwa. Lonke uvavanyo oluqhelekileyo losana olusandula ukuzalwa luya kwenziwa kulo mntwana. Ngokukodwa, ekubeni le meko inokubangela ukulahlekelwa kukuva, kuya kunikwa ingqwalasela ekhethekileyo kuvavanyo lokuva .

Inyangwa njani i-Apert Syndrome?

Iindlela zonyango zixhomekeke kubukhali bemeko yomntwana wakho. Kwiimeko ezininzi, utyando lolona nyango luphambili lokunciphisa iimpawu.

• Ukuba kukho iimpawu zeengxaki ezichaphazela ukhakhayi okanye ubuchopho (i-craniosynostosis okanye i-hydrocephalus - ukuqokelelwa kolwelo engqondweni): Phakathi kweenyanga ezimbini nezine emva kokuzalwa, kunokwenziwa utyando lokususa ulwelo oluqokelelene engqondweni nokubeka umbhobho omncinci ( i-shunt ) ukunciphisa uxinzelelo.
• Utyando lokulungisa okanye lokwakha ngokutsha:
• Utyando lokulungisa amehlo.
• Utyando lokwakha amathambo emihlathi ( i-osteotomy ).
• Utyando lweplastiki yesilevu ( genioplasty ).
• Utyando lweplastiki lwempumlo ( rhinoplasty ).
• Utyando lokwahlula iminwe neenzwane ezidityaniswe kunye.
• Utyando lokulungisa imo yokhakhayi ( cranioplasty ).

Ngaba kukho ezinye iindlela zonyango zokunciphisa iziphumo ebezingalindelekanga?

Ewe, ngokuqinisekileyo. Umntwana wakho angafikelela kwinqanaba lakhe elipheleleyo ukuba uqala unyango olufunekayo ngokukhawuleza, njengoko ugqirha wakho ecebisile. Unyango olufana nolu luquka:

• Izixhobo zokuncedisa ukuva ukuba unengxaki yokuva.
• Ukuba unengxaki yokuphefumla ngenxa yokuvaleka kwendlela yomoya, ungadinga umatshini wokuphefumla okanye olunye unyango .
• Ukucwangcisa idinga kunye neengcali ezahlukeneyo zonyango. Umzekelo, unyango lomzimba , unyango lomsebenzi, kunye nonyango lokuthetha .
• Ukunyamekela ngokukodwa umlomo namazinyo omntwana.
• Uvavanyo oluqhelekileyo lombono ngenxa yeengxaki zamehlo.

Ngaba i-Apert Syndrome inganyangeka ngokupheleleyo?

Ngelishwa, okwangoku akukho nyango lwe-Apert syndrome. Nangona kunjalo, utyando lunokunciphisa kakhulu iimpawu kwaye luncede umntwana aphile ubomi obuqhelekileyo.

Ngaba kukho into endinokuyenza ukunciphisa umngcipheko womntwana wam wokuba ne-Apert Syndrome?

Ngenxa yokuba i-Apert syndrome yimeko yemfuza, akukho nto abazali banokuyenza ukuthintela ukuba ingenzeki ngexesha lokukhulelwa. Nangona kunjalo, ukuba uceba ukuba nomntwana, ungabonana nogqirha ukuze akunike iingcebiso ngemfuza ukuze ubone ukuba usemngciphekweni wokudlulisela esi sifo kumntwana wakho. Ingcebiso ngemfuza inokukunceda uqonde amathuba okuba nomntwana onesi sifo kwixesha elizayo kwaye unike inkxaso kubazali abatsha.

Yintoni endimele ndiyilindele ukuba umntwana wam une-Apert Syndrome?

I-Apert syndrome yimeko ehlala ubomi bonke kwaye akukho nyango. Usana ludla ngokufuna utyando ukuze kuncitshiswe uxinzelelo engqondweni xa luzalwa, kulandele utyando oluninzi lokwakha. Kubalulekile ukulandelelana ngokusondeleyo neengcali ezahlukeneyo.

Nangona kunjalo, ngotyando kunye nonyango oluqhubekayo, iintsana ezizelwe zine-Apert syndrome zinokuphila ubomi obuqhelekileyo. Zifanele zihlale zinxibelelana rhoqo nogqirha wazo ukuze zixoxe ngazo naziphi na iingxaki ezinokuba nazo njengoko zikhula. Njengoko umntwana wakho ekhula, kufuneka ahlolwe umbono wakhe, amazinyo akhe, kunye nokuva kwakhe rhoqo. Ngamanye amaxesha, kunokufuneka utyando olongezelelweyo ukuze kunyangwe iimpawu eziqhubekayo.

Ndifanele ndimbone nini ugqirha wam?

Ukuba ubona naziphi na ezi mpawu kumntwana wakho, bonana nogqirha ngokukhawuleza:

• Ukuba unengxaki yokuphefumla .
• Ukuba uneengxaki zendlebe ezihlala zikho okanye unengxaki yokumamela imiyalelo elula.
• Ifanelekile iminyakaUkuba amanyathelo ophuhliso awafikelelwa.
• Ukuba indawo yotyando inentsholongwane (ibomvu, idumbile, ifana nobovu).

Ndingayibuza yiphi imibuzo ugqirha wam?

Xoxa nogqirha wakho ngayo nayiphi na imibuzo okanye izinto ezikuxhalabisayo. Umzekelo, ungabuza imibuzo efana nale:

• Loluphi unyango olucebisayo xa umntwana wam exilongwa ukuba unesifo?
• Zithini iingozi zotyando?
• Ingaba indlela emile ngayo intloko yomntwana wam iyayichaphazela indlela afunda ngayo?
• Ukuba ndinomnye umntwana, ngaba likho ithuba lokuba loo mntwana naye abe ne-Apert syndrome?

Ziziphi ezinye iimeko ezifana ne-Apert Syndrome?

Ezinye zeempawu ze-Apert syndrome zinokufana nezinye iimeko ezibangelwa kukudibana ngokukhawuleza kwamathambo ekhanda ngexesha lokukhula komntwana ongekazalwa (craniosynostosis). Ezinye zezi meko ziquka:

• I-Carpenter syndrome: Njenge-Apert syndrome, le yimeko apho ukhakhayi lomntwana ludibana ngaphambi kwexesha, nto leyo ebangela ukungaqheleki kokhakhayi. Inokubangela ne-syndactyly (iminwe neenzwane ezidityanisiweyo). Umahluko kukuba i-Carpenter syndrome yenzeka xa abazali bobabini bedlulisela i-gene emntwaneni (i-autosomal recessive).
• I-Crouzon syndrome: Oku kukwabangela iingxaki zobuso ngenxa yokuba ukhakhayi lomntwana ludibana ngokukhawuleza.
• Isifo sikaPfeiffer: Kule meko, kunye nokuphazamiseka kwesikhumba kunye nobuso, iinzwane ezinkulu kunye neenzwane ezinkulu zinokuba zibanzi kunezinye iinzwane kwaye zinokugoba kude nezinye iinzwane.
• Isifo sikaSaethre-Chotzen: Esi sisifo apho amathambo entloko edibana khona ngaphambi kwexesha, nto leyo ebangela ukuba ubuso bube neempawu ezingalinganiyo nezingafaniyo.

Yintoni umahluko phakathi kwe-Apert Syndrome kunye ne-Crouzon Syndrome?

I-Apert syndrome kunye ne-Crouzon syndrome zineempawu ezifanayo. Zombini zibangelwa kukuvalwa kwamalungu ekhanda ngaphambi kwexesha ngexesha lokukhula komntwana ongekazalwa. Kuzo zombini iimeko, ukhakhayi lunokumila ngendlela engaqhelekanga, kwaye ubuso bunokubonakala butshonile (i-midface hypoplasia). Umahluko ophambili, nangona kunjalo, kukuba kwi-Apert syndrome, ezinye iindawo zomzimba ziyachaphazeleka ukongeza kukhakhayi, ngakumbi i-syndactyly, imeko apho iminwe neenzwane zidibene. Kwi-Crouzon syndrome, imilo yokhakhayi ichaphazeleka kakhulu.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Apert syndrome yimeko yemfuza enokubangela utshintsho kwinkangeleko yomntwana kunye neminye imisebenzi yomzimba wakhe. Nangona kungekho nyango, utyando kunye nonyango olwahlukeneyo lunokunceda ukulawula iimpawu kwaye luncede umntwana aphile ubomi obuqhelekileyo nobonwabisayo kangangoko kunokwenzeka.

Ukuba kukho umntu kusapho lwakho one-Apert syndrome kwaye ulindele umntwana, kubaluleke kakhulu ukufuna ingcebiso ngemfuza . Oku kuya kukunika ulwazi kunye nesikhokelo osidingayo.

Eyona nto ibalulekileyo kukwazi ukuba awuwedwa. Ungafumana inkxaso koogqirha, abacebisi, kunye nabazali babantwana abaneemeko ezifanayo. Ungoyiki ukuthetha nogqirha wakho ngayo yonke into ekucingayo.

I- Apert Syndrome, i-Apert Syndrome, Izifo zeMfuzo, Ukukhubazeka kweSkull, Ukukhubazeka kwamalungu omzimba, Impilo yoMntwana, i-Craniosynostosis