Kodi Christianson Syndrome ndi chiyani? Kodi tikambirane za matenda osowa awa a majini?

Kodi munayamba mwadzifunsapo ngati mwana wanu ali ndi vuto la kukula mochedwa? Kapena zikuoneka kuti akuvutika kuyenda kapena kulankhula? Nthawi zina zizindikirozi zingayambitsidwe ndi vuto la majini losowa. Lero tikambirana za vuto losowa koma lofunika kulidziwa. Limatchedwa Christianson Syndrome. Musadandaule, ndikofunikira kwambiri kudziwa izi.

Kodi matenda a Christianson ndi chiyani?

Mwachidule, Christianson Syndrome ndi matenda osowa kwambiri, kutanthauza kuti, omwe sapezeka kawirikawiri m'majini . Izi zimakhudza kwambiri mitsempha yathu. Taganizirani izi, mitsempha ndiyo njira yayikulu yomwe imatumiza mauthenga m'thupi lathu ndipo imalamulira zochita zonse. Chifukwa chake izi zikakhudzidwa, zinthu monga kuyenda ndi kulankhula zimatha kusokonezeka. Anthu omwe ali ndi vutoli amakumana ndi kuchedwa kwa chitukuko kapena kulephera kwa nzeru. Nthawi zambiri, zizindikirozi zimayamba kuonekera ali aang'ono.

Ndani amene amakhudzidwa kwambiri ndi vutoli? N’chifukwa chiyani likuoneka kuti limakhudza anyamata okha?

Tsopano taonani, matenda otchedwa Christianson Syndrome amapezeka kwambiri pakati pa anyamata . Pali chifukwa chenicheni cha zimenezi. Ndi "matenda a majini olumikizidwa ndi X", zomwe zikutanthauza kuti amayamba chifukwa cha vuto la majini lokhudzana ndi chromosome ya X.

Tonsefe tili ndi tinthu tating'onoting'ono totchedwa ma chromosome mkati mwa maselo athu omwe amasunga chidziwitso cha majini. Akazi ali ndi ma chromosome awiri a X (XX), ndipo amuna ali ndi chromosome imodzi ya X ndi chromosome imodzi ya Y (XY).

Ngakhale mkazi atakhala ndi jini yosintha matenda a Christiansen pa chromosome imodzi ya X, koma chromosome ina yathanzi ya X nthawi zambiri siimayambitsa zizindikiro. Ikhoza kukhala chonyamulira cha matendawa. Izi zikutanthauza kuti ali ndi jini yosinthira ngakhale kuti alibe matendawa.

Koma ngati mwamuna ali ndi kusintha kwa majini kumeneku pa chromosome yake yokha ya X, adzayamba kukhala ndi zizindikiro chifukwa alibe chromosome ya X yathanzi yoti igwire ntchitoyo. Kuti mkazi adwale matendawa, ayenera kukhala ndi kusintha kumeneku pa ma chromosome onse a X. Zimenezi n’zosowa kwambiri, zomwe zikutanthauza kuti mwayi woti izi zichitike ndi wochepa kwambiri.

Kodi matenda a Christianson Syndrome ndi ofala bwanji?

Ndipotu, n'zovuta kunena momwe izi zimachitikira kawirikawiri kuchokera ku ziwerengero. Chifukwa ndi vuto losowa kwambiri. Madokotala amati ndi losowa kwambiri .Ndi vuto losowa kwambiri. Ziwerengero zina zikusonyeza kuti mnyamata m'modzi mwa anyamata 600 omwe ali ndi vuto la maganizo lolumikizidwa ndi X akhoza kukhala ndi vutoli. Kafukufuku wina adapeza kuti Christianson Syndrome imapezeka m'mabanja pafupifupi 100 omwe ali ndi mwana yemwe ali ndi vuto la kukula lolumikizidwa ndi X. Ndiye, mutha kuwona momwe izi zilili zachilendo, eti?

Kodi zizindikiro za matenda a Christianson ndi ziti?

Chabwino, tiyeni tiwone zizindikiro zomwe mnyamata yemwe ali ndi Christianson Syndrome amawonetsa. Mutha kuwona zina kapena zonsezi. Si mwana aliyense amene ali ndi zizindikiro zonsezi, ndipo zimenezo ndi zinthu zomwe muyenera kukumbukira.

Zinthu zazikulu zomwe nthawi zambiri zimawonedwa ndi izi:

• Mavuto oyenda ndi kukhazikika (ataxia): Izi zikutanthauza kuti zimakhala zovuta kukhala ndi kukhazikika, ndipo mungamve kusakhazikika kapena kusakhazikika mukamayenda.
• Khunyu: Izi zikutanthauza kuti matenda monga khunyu amatha kuchitika. Izi ndi kutaya mwadzidzidzi chidziwitso ndi kugwedezeka.
• Mavuto a maso: Mwachitsanzo, strabismus, kapena monga momwe timanenera, 'maso opingasa', ndi vuto longa limenelo.
• Kulephera kulankhula kapena kuvutika kwambiri: Kuvuta kupanga mawu, kapena kulephera kulankhula konse, kapena kulankhula kungakhale kochepa kwambiri.
• Kulephera kwa nzeru: Pakhoza kukhala kusowa luso lophunzira, kumvetsetsa, ndi zina zotero. Mlingo wa izi ukhoza kusiyana malinga ndi munthu.
• Microcephaly: Mutu ukhoza kukhala wocheperako kuposa wamba. Izi zimayesedwa potengera zaka za mwana komanso kugonana kwake.

Kuwonjezera pa izi, palinso zinthu zina zomwe zimawoneka:

• Matenda a Autism spectrum: Zizindikiro monga kusafuna kuchita zinthu ndi anthu ena, kuchita zinthu ndi ena, komanso kuchita zinthu mobwerezabwereza.
• Kufooka kwa ubongo: Mbali ya ubongo wathu yomwe imalamulira kuyenda bwino, yotchedwa cerebellum, ingasiye kukula kapena kuchepa.
• Mavuto a m'mimba: Mwachitsanzo, matenda monga gastroesophageal reflux disease (GERD), omwe amayambitsa zizindikiro monga kutentha pamtima ndi kubwereranso m'mimba.
• Kutaya mphamvu yoyenda: Mutha kuyenda poyamba, koma pakapita nthawi, mphamvuyo imatha kuchepa kapena kutha. Izi zimatchedwa 'regression' .
• Kufooka kwa minofu (hypotonia): Thupi likhoza kumva ngati lofooka komanso lofooka, ngati chidole cha rabara.
• Kuchepetsa thupi kapena kutalika:Mungachepetse kulemera kwanu ndi kutalika kwanu koyenerana ndi msinkhu wanu. Izi zikutanthauza kuti kukula kwanu kungachedwe.

Chodabwitsa kwambiri ndichakuti ana omwe ali ndi Christianson Syndrome nthawi zina amaonetsa zizindikiro zofanana ndi za ana omwe ali ndi matenda ena a majini otchedwa Angelman syndrome, monga kuwoneka osangalala popanda chifukwa komanso kumwetulira nthawi zonse.

Monga tanenera kale, akazi omwe ali ndi kusintha kwa majini kumeneku, kutanthauza kuti, omwe ali ndi matendawa, nthawi zambiri amakhala ndi vuto la kuphunzira, koma nthawi zambiri samakumana ndi zizindikiro zina zoopsa zomwe anyamata amakumana nazo.

Kodi n’chiyani chimayambitsa matenda a Christianson?

Tikayang'ana chomwe chimayambitsa izi, Christianson Syndrome ndi matenda a majini . Ndiko kuti, amayamba chifukwa cha kusintha kapena kusintha kwa majini. Kunena zoona, amayamba chifukwa cha kusintha kwa majini otchedwa SLC9A6 pa chromosome ya X.

Kusintha kwa majini kumeneku kumachokera kwa makolo kupita kwa ana. Nthawi zambiri, makolo omwe amapatsira kusinthaku kwa majini kwa ana awo ndi omwe amanyamula matendawa. Izi zikutanthauza kuti ngakhale ali ndi kusinthaku m'majini awo, sasonyeza zizindikiro.

Kodi matendawa amapezeka bwanji?

Dokotala akakuonani inu kapena mwana wanu, angakayikire kuti muli ndi matenda a Christianson Syndrome ngati ali ndi zizindikiro zomwe takambirana kale.

Tangoganizani, Kasun wamng'ono anabadwa ngati makanda ena. Koma pang'onopang'ono, makolo ake anazindikira kuti Kasun anali wamkulu pang'ono kuposa ana ena. Anachedwa kugwira khosi lake bwino, anachedwa kugubuduzika, komanso anachedwa kukhala pansi. Kenako, akayamba kuyenda, ankagwa pafupipafupi, ngati kuti analibe kulinganiza bwino. Anayambanso kulankhula mochedwa kwambiri, koma mawu ake sanali omveka bwino. Atayamba kupita kusukulu, anavutika kumvetsetsa maphunziro. Anali atangomuonetsa kwa dokotala, yemwe anachita mayeso osiyanasiyana ndipo anapeza matenda otchedwa Christianson Syndrome.

Kuti atsimikizire izi, kapena kuti athetse vutoli, mayeso apadera a magazi amachitidwa. Kuyesa magazi kumeneku kumagwiritsidwa ntchito kuti adziwe ngati pali kusintha kwa majini komwe kumatchedwa SLC9A6. Izi zimatchedwa kuyezetsa majini .

Kodi mankhwala a Christianson Syndrome ndi ati?

Funso lomwe anthu ambiri amafunsa ndi lakuti kodi pali mankhwala enieni a matendawa? Ndipotu, palibe mankhwala omwe alipo pakadali pano. Komabe, zimenezo siziyenera kukukhumudwitsani. Pali mankhwala ambiri omwe angathandize kuchepetsa zizindikiro ndikukweza moyo wa mwana ndi banja lake.

Ndondomeko ya chithandizo cha mwana wanu kapena cha mwana wanu ingaphatikizepo:

• Chithandizo cha mavuto a maso: zinthu monga magalasi, komanso opaleshoni yokonza diso lopindika (strabismus).
• Mapulani a Maphunziro Omwe Amakhala Payekha (IEPs): Thandizani ana omwe ali ndi vuto la nzeru kapena kuphunzira kuphunzira m'njira yoyenera iwo.
• Mankhwala oletsa khunyu: Mankhwala operekedwa ndi madokotala kuti achepetse kuchulukira kwa khunyu komanso kuopsa kwake.
• Kuchiza thupi: Izi zimathandiza kwambiri pakulimbitsa mphamvu za thupi, kamvekedwe ka minofu, kuyenda bwino, komanso kulimbitsa thupi.
• Chithandizo cha kulankhula: Chimakulitsa luso la chilankhulo ndi kulankhulana. Chingaphunzitsenso njira zina zolankhulirana kwa iwo omwe satha kulankhula.
• Chithandizo cha ntchito: Chimathandiza pa ntchito za tsiku ndi tsiku monga kuvala, kudya, ndi zina zomwe zimachitika tsiku ndi tsiku.

Zonsezi zimachitika kuti mwanayo akhale ndi moyo wabwino kwambiri.

Kodi matenda a Christianson angapewedwe?

Ndipotu, palibe njira yopewera Christianson Syndrome kapena kusintha kwa majini komwe kumayambitsa vutoli, chifukwa ndi majini.

Komabe, ngati mukukayikira kuti mwina ndinu wonyamula matendawa, kapena ngati wina m'banja mwanu ali ndi vutoli, mutha kuyesedwa majini .

Kuyezetsa majini kumeneku kumaphatikizapo kutenga chitsanzo cha magazi anu ndikuyang'ana kusintha kwa majini. Mlangizi wa majini adzakufotokozerani zotsatira za mayesowo. Adzakuthandizani kumvetsetsa zotsatira za kusintha kumeneku komanso momwe mungakhalire ndi mwana wokhala ndi Christianson Syndrome. Izi zingakhale zofunika kwambiri kudziwa musanayambe banja kapena kukhala ndi mwana wina.

Kodi moyo udzakhala bwanji ndi vutoli? (Outlook)

Ndi chithandizo chabwino chothandizira, monga chithandizo cha thupi ndi chithandizo cha kulankhula, anthu omwe ali ndi Christianson Syndrome akhoza kukhala ndi moyo wabwino kwambiri . Angathe kugwira ntchito bwino momwe angathere.

Popeza kafukufuku wokhudza matendawa akupitirirabe, palibe deta yeniyeni yokhudza nthawi yomwe munthu amakhala ndi moyo. Komabe, nthawi zambiri, anthu omwe ali ndi matendawa amakhala ndi moyo wabwinobwino. Komabe, nthawi zina vuto lotchedwa 'regression' limatha kuoneka, zomwe zikutanthauza kuchepa kwa luso lomwe linalipo kale. Mwachitsanzo, luso lolankhula kapena kuyenda lingakhale labwino kwa kanthawi, kenako n’kubwereranso m’mbuyo. Ndi bwino kulankhula ndi madokotala anu za zinthu zotere ndikukhala okonzeka kukumana nazo.

Ndi mafunso ati omwe muyenera kufunsa dokotala?

Ngati mukukayikira kuti inu kapena mwana wanu ali ndi Christianson Syndrome, kapena ngati mwapezeka ndi vutoli, mutha kufunsa dokotala wanu mafunso awa. Musaope kufunsa chilichonse chomwe chili m'maganizo mwanu.

• Ndi mayeso ati omwe amagwiritsidwa ntchito pozindikira matenda a Christianson Syndrome?
• Kodi chifukwa chenicheni cha izi n'chiyani? Kodi ndi vuto ndi majini anga?
• Kodi njira zochiritsira izi ndi ziti? Ndi chithandizo chiti chomwe chili chabwino kwa mwana wanga?
• Kodi ndingachite chiyani kunyumba kuti ndithandize mwana wanga amene ali ndi matenda a Christianson kukhala ndi moyo wabwino?
• Kodi pali mwayi wotani woti ana anga ena, kapena ana anga amtsogolo, adzalandira matendawa?
• Ndi mabungwe ndi magulu ati othandizira omwe tingapiteko kuti atithandize pa vutoli?

Tiyeni tikumbukire mfundo izi (Uthenga Wopita Nawo Kunyumba)

• Matenda a Christianson ndi matenda osowa kwambiri omwe amapezeka m'majini .
• Izi zimakhudza kwambiri mitsempha yamagazi, zomwe zimapangitsa kuti munthu azivutika kuyenda ndi kulankhula .
• Kulephera kwa nzeru nthawi zambiri kumawoneka.
• Matendawa amakhudza kwambiri anyamata (X-linked).
• Ngakhale kuti palibe mankhwala enieni a izi, pali njira zosiyanasiyana zochiritsira zomwe zingachepetse zizindikiro ndikukweza moyo.

Ngati inu kapena mwana wanu muli ndi zizindikiro izi, chinthu chabwino kuchita ndi kusachita mantha, koma kufunsa upangiri wa dokotala mwachangu momwe mungathere. Kumbukirani, simuli nokha paulendowu, ndipo kupempha thandizo ndi kudziwitsidwa kudzakuthandizani kuthana ndi vutoli.

Matenda a Christianson, Matenda a Majini, Mitsempha, X-linked, Kulephera kwa Anzeru, Khunyu, Kuchedwa kwa Kukula