Kodi mwana wanu ali ndi zizindikiro izi? Tiyeni tiphunzire za Cohen Syndrome.

Kodi munayamba mwadzifunsapo chifukwa chake ana ena amachita zinthu mosiyana ndi ena? Nthawi zina, ngakhale zinthu zazing'ono zimatha kukhala ndi nkhani yaikulu kumbuyo kwake. Lero, tikambirana za matenda a majini omwe amakhudza zinthu zambiri mwa ana, monga mawonekedwe awo, kukula kwawo, ndi mphamvu ya minofu. Matendawa amatchedwa Cohen Syndrome.

Kodi Cohen Syndrome ndi chiyani?

Mwachidule, Cohen Syndrome ndi matenda omwe amayamba chifukwa cha kusintha kwa majini. Amatha kukhudza ziwalo zambiri za thupi, kuphatikizapo masomphenya, kukula kwa mwana, kamvekedwe ka minofu, ndi luso la nzeru. Amathanso kuyambitsa zizindikiro zakuthupi monga mutu waung'ono, tsitsi lokhuthala, ndi kutalika kochepa.

Ana obadwa ndi vutoli amakhala ndi kuchedwa kukula . Izi zikutanthauza kuti zinthu monga kugubuduzika, kuyenda, ndi kulankhula zimatha kuchedwa kuposa momwe zimayembekezeredwa. Mwachitsanzo, ngakhale mwana wa mnzanuyo angagubuduke ali ndi miyezi isanu ndi umodzi, mwana amene ali ndi vutoli angatenge nthawi yayitali. Komabe, ngakhale kuchedwa kumeneku, ana awa nthawi zambiri amakhala okoma mtima, osangalala, komanso ochezeka. Amakhala achikondi kwambiri akamamwetulira ndi kulankhula.

Izi zimachitika chifukwa cha kusintha kwa majini, ndipo pakadali pano palibe mankhwala. Ngakhale kuti anthu ambiri omwe ali ndi matenda a Cohen Syndrome amakhala ndi moyo wabwinobwino, amafunikira thandizo pa moyo wawo wonse.

Kodi vuto limeneli lotchedwa Cohen Syndrome ndi lofala bwanji?

Ndipotu, matenda a Cohen Syndrome si matenda ofala kwambiri. Kafukufuku wina akusonyeza kuti anthu osakwana 1,000 padziko lonse lapansi adapezeka ndi matendawa. Komabe, popeza matendawa nthawi zambiri sapezeka mokwanira, chiwerengero chenicheni chikhoza kukhala chokwera kwambiri. Chifukwa chake, ndikofunikira kudziwa za matendawa.

Kodi zizindikiro za Cohen Syndrome ndi ziti?

Pali zizindikiro zingapo za Cohen Syndrome. Ndikofunikira kukumbukira kuti si aliyense amene ali ndi zizindikiro zonse. Tiyeni tiwone zizindikiro zazikulu zomwe zingawonekere:

• Mavuto a chitukuko cha nzeru: Izi zikutanthauza kuti zimatenga nthawi yayitali kuti muphunzire ndikumvetsetsa zinthu. Mungafunike thandizo lowonjezera pa ntchito ya kusukulu.
• Kufooka kwa minofu (hypotonia): Kumva kufooka kapena kufooka m'thupi. Izi zimatha kumveka ngakhale ponyamula mwana.
• Kusinthasintha kwa thupi: Kusinthasintha kwambiri kwa mafupa. Ana ena amatha kupinda miyendo yawo m'njira zachilendo.
• Kuona myopia (kulephera kuwona bwino) komwe kumawonjezeka ndi ukalamba: Kuona zinthu pafupi koma osaona zinthu patali bwino. Izi zimawonjezeka ndi ukalamba, choncho ndikofunikira kuyesedwa maso nthawi zonse.
• Kuwonongeka kwa masomphenya a retinal kapena chorioretinitis: Kuwonongeka kwa gawo la diso lomwe limathandiza kuwona. Izi zingayambitse kutayika pang'onopang'ono kwa masomphenya.

Zizindikiro zomwe makanda obadwa kumene amatha kuziona

Mungathe kuona zinthu ngati izi mwa makanda obadwa kumene:

• Kuvuta kuyamwitsa: Kuvuta kuyamwitsa mwana.
• Kulira kofooka kapena kokweza: Kulira kwa mwana kungakhale kosiyana, kofooka kuposa masiku onse.
• Kuvuta kupuma: Mwana amavutika kupuma.
• Kuvuta kulemera: Kulemera kwa mwana sikukuwonjezeka bwino.

Chofunika Kwambiri: Ngati mwana wanu akuvutika kupuma kapena akuoneka kuti akusintha kukhala buluu, imbani 119 kapena nambala yanu yadzidzidzi yapafupi nthawi yomweyo ndipo mupite naye kuchipatala.

Kuchedwa kwa chitukuko ndi khalidwe

Ana angafunike nthawi yochulukirapo kuti aphunzire ndikukula kuposa anzawo a msinkhu wawo. Kuchedwa kumeneku kungayambe ali aang'ono. Mwachitsanzo, zinthu monga kugubuduzika ndi kukhala okha zingachedwe. Mwana wanu angayambe kuyenda atakwanitsa zaka ziwiri, koma asanakwanitse zaka 5. Zingatengenso nthawi kuti ayambe kulankhula.

Ngakhale kuti vutoli lingayambitse mavuto ena monga tafotokozera kale, ana ambiri amakhala ochezeka komanso osangalala. Amakonda kucheza ndi ena komanso kusewera ndi ena.

Koma kumbukirani kuti zizindikirozi sizimachitika mwa ana onse mofanana. Ana ena sangakhale ndi zizindikiro zonsezi.

Kodi zizindikiro zakuthupi za Cohen Syndrome ndi ziti?

Pali zinthu zambiri zomwe zimachitika pankhope ndi pathupi mwa ana omwe ali ndi matenda a Cohen Syndrome. Zina mwa izi zimaonekera akamabadwa, pomwe zina zimaonekera akamakula.

Mawonekedwe a nkhope:

• Microcephaly: Mutu wocheperako kuposa wamba.
• Tsitsi lokhuthala, nsidze zokhuthala, ndi nsidze zazitali.
• Maso opendekeka pansi (mipata ya palpebral yooneka ngati mafunde): Zikope zili ndi mawonekedwe ofanana ndi mafunde.
• Nsonga ya mphuno yozungulira.
• Mtunda waufupi pakati pa mphuno ndi mlomo wapamwamba (philtrum).
• Mano akumtunda otuluka.
• Makutu akuluakulu.

Zina mwa makhalidwe amenewa zimaonekera kwambiri mwana akamakula, nthawi zambiri akakwanitsa zaka 5.

Makhalidwe ena akuthupi:

Kuphatikiza apo, zizindikiro zina zakuthupi nthawi zambiri zimatha kuwonekera ali mwana komanso akapitirira. Izi zikuphatikizapo:

• Kuchuluka kwa mafuta m'thupi komanso kuonda kwa ziwalo: Izi zikutanthauza kuti gawo lapakati la thupi (mozungulira mimba) limakhala lalikulu ndipo ziwalo zimakhala zoonda.
• Kutalika kwa msinkhu.
• Kuchedwa kutha msinkhu.
• Ma testicles osatsika mwa anyamata.
• Kupindika kwa msana (scoliosis kapena kyphosis).

Ndi matenda ena ati omwe angachitike ndi Cohen Syndrome?

Ana omwe apezeka ndi matenda a Cohen Syndrome ali pachiwopsezo chachikulu chotenga matenda ena omwe amakhudza chitetezo chamthupi chawo. Ndikofunikira kudziwa izi.

• Neutropenia: Uku ndi kuchepa kwa mtundu wa maselo oyera a m'magazi (otchedwa neutrophils) m'thupi. Ma neutrophils amenewa amalimbana ndi majeremusi ndi matenda omwe amalowa m'thupi mwathu. Choncho pamene awa ali ochepa, timatha kudwala mosavuta. Tikhoza kutenga malungo, chimfine, ndi matenda ena pafupipafupi.
• Matenda a Autoimmune: Izi zikutanthauza kuti chitetezo chamthupi chimaukira maselo athanzi m'thupi. Taganizirani izi ngati gulu lathu lankhondo lomwe limatiukira. Zitsanzo zake ndi matenda a shuga, matenda a chithokomiro, ndi matenda a celiac (kusagwirizana ndi mapuloteni a gluten).

Kodi n’chiyani chimayambitsa matenda a Cohen?

Matenda a Cohen amayamba chifukwa cha kusintha kwa majini a VPS13B (omwe amadziwikanso kuti COH1 gene) . Mwachidule, ndi vuto la majini m'thupi lathu.

Tangoganizirani, mkati mwa matupi athu muli chinthu chotchedwa Golgi apparatus . Chili ngati fakitale yopangira mapuloteni. Puloteni yatsopano ikapangidwa, thupi lathu limatumiza zinthu zopangira ku Golgi apparatus, komwe zimasinthidwa zina ndikuphatikizidwa ndi mapuloteni ena ofanana kuti ziwasanthule. Pambuyo poti kusinthaku kwachitika, Golgi apparatus imayika mapuloteniwo ndi malangizo awo ndikutumiza komwe akupita.

Jini ya VPS13B imachita makamaka glycosylation , yomwe ndi njira yomwe mamolekyu a shuga amamangiriridwa ku mapuloteni. Imathandizanso kukonza ndikutumiza zizindikiro ku ma neuron ndi maselo amafuta (adipocytes) .

Kotero, pakakhala kusintha kwa majini a VPS13B, zimakhala ngati fakitaleyo singathe kugwira ntchito bwino. Izi zikutanthauza kuti singapange zinthu zabwino. Ndicho chimene chimayambitsa zizindikiro za Cohen Syndrome.

Kodi matenda a Cohen ndi obadwa nawo?

Inde, matenda a Cohen ndi matenda obadwa nawo. Matendawa amafalikira m'njira yoti munthu azitha kudzipatula yekha.Ngati izi zikuwoneka zovuta kumvetsetsa, ganizirani motere: Mwana amapeza vutoli akalandira makope awiri a jini yolakwika yomwe imayambitsa vutoli (imodzi kuchokera kwa amayi ake ndi ina kuchokera kwa abambo ake). Makolo enieni akhoza kukhala onyamula jiniyo. Izi zikutanthauza kuti alibe vutoli chifukwa ali ndi kopi imodzi yokha ya jini yolakwika. Kope linalo ndi lathanzi. Komabe, ngati awiri onyamula matendawa agwirizana, pali mwayi woti mwana wawo adzakhala ndi vutoli.

Ndani amene ali pachiwopsezo chachikulu cha izi?

Matenda a Cohen Syndrome angakhudze aliyense. Komabe, matendawa amapezeka kwambiri m'magulu ena a anthu. Mwachitsanzo:

• Anthu a Amish
• Anthu aku Finland
• Anthu ochokera ku Greece (Mediterranean)
• Anthu ochokera ku Ireland

Ngakhale izi si zapadera kwa ife ku Sri Lanka, ndi bwino kudziwa.

Kodi mavuto omwe angakhalepo chifukwa cha matenda a Cohen Syndrome ndi ati?

Matenda a Cohen angayambitse mavuto awa:

• Matenda ofala, monga matenda a khutu lapakati (otitis media) (chifukwa cha chitetezo chochepa cha mthupi chifukwa cha neutropenia)
• Mavuto a mano ndi mkamwa monga gingivitis ndi zilonda za mkamwa .
• Mavuto a maso akuchulukirachulukira.
• Kulemala kwa nzeru pamlingo wosiyanasiyana.

Kodi matenda a Cohen Syndrome amapezedwa bwanji?

Dokotala akhoza kuzindikira matenda a Cohen Syndrome atatha kumuyeza thupi ndi mayeso ena. Monga kholo, ngati mukuona kuti mwana wanu sakukwaniritsa zofunikira pakukula kwake (monga kumwetulira, kusayankha mawu, kusagubuduzika, kusalankhula ngati ana ena), onani dokotala wa mwana wanu. Ichi chingakhale chizindikiro choyambirira cha vutoli.

Kuzindikira matenda a Cohen Syndrome nthawi zina kumakhala kovuta chifukwa zizindikiro zake zimatha kufanana ndi matenda ena ambiri. Kuyesa kungathandize dokotala wanu kuchotsa matenda amenewa. Kuyesa magazi m'majini kungathandize kuzindikira kusintha kwa majini komwe kumayambitsa zizindikirozi.

Kodi matenda a Cohen amachiritsidwa bwanji?

Pakadali pano palibe mankhwala a Cohen Syndrome. Chithandizochi cholinga chake ndi kuchepetsa zizindikiro ndikuthandiza mwana kukhala ndi moyo wabwino momwe angathere. Izi zingaphatikizepo:

• Mapulogalamu ophunzitsira ana aang'ono: Mapulogalamu apadera omwe amathandiza mwana kukula ndi kuphunzira.
• Chithandizo cha ntchito: Chithandizo chomwe chimakuthandizani kuchita ntchito za tsiku ndi tsiku (monga kudya, kuvala, ndi kusewera) nokha.
• Kuchiza thupi: Chithandizo chomwe chimathandiza kupititsa patsogolo kuyenda kwa thupi ndi mphamvu ya minofu. Izi ndizofunikira kwambiri pa hypotonia.
• Chithandizo cha kulankhula: Chithandizo chomwe chimathandiza kukulitsa luso lolankhula ndi kulankhulana ndi ena.
• Kuvala magalasi kapena kuchita masewera olimbitsa thupi.

Matenda a neutropenia okhudzana ndi Cohen Syndrome nthawi zambiri amachiritsidwa ndi jakisoni wa mankhwala otchedwa Granulocyte-Colony Stimulating Factor (G-CSF) omwe amaperekedwa pansi pa khungu. Izi zimapangitsa kuti mafuta a m'mafupa apange maselo oyera ambiri, zomwe zimachepetsa chiopsezo cha matenda.

Ngati mwana wanu ali ndi matenda opatsirana pafupipafupi, dokotala adzakupatsani mankhwala opha tizilombo toyambitsa matenda kuti amuchiritse ngati pakufunika kutero.

Kodi munthu amene ali ndi matenda a Cohen Syndrome amakhala ndi moyo wautali bwanji?

Popeza matenda a Cohen Syndrome si matenda ofala kwambiri, palibe umboni wokwanira wosonyeza momwe amakhudzira moyo wa munthu. Ngakhale anthu ambiri omwe ali ndi matendawa amakhala ndi moyo wabwinobwino, si aliyense amene amakhala nawo. Izi zingakhudze moyo wa mwana wanu, makamaka ngati mwana wanu ali ndi matenda ena omwe amakhudza chitetezo cha mthupi (monga matenda opatsirana pafupipafupi komanso oopsa).

Kodi matenda a Cohen Syndrome ndi otani?

Matenda a Cohen Syndrome angakhudze mbali zambiri za moyo wa mwana wanu. Komabe, ndi chithandizo choyenera ndi chisamaliro chachikondi, akhoza kukhala ndi chiyembekezo chabwino cha matendawa.

Dokotala angakulimbikitseni njira zosiyanasiyana zochiritsira zomwe zimagwirizana ndi zizindikiro zake. Izi zimatha kusiyana malinga ndi munthu aliyense. Chithandizo nthawi zambiri chimaphatikizapo chithandizo ndi mapulogalamu ophunzitsira. Izi zimathandiza mwana kukwaniritsa zofunikira pakukula kwake.

Mwana wanu akhoza kukhudzidwa ndi mavuto a maso ndi mavuto a mano. Izi nthawi zambiri zimayamba akafika msinkhu wopita kusukulu. Choncho, pitirizani kuonana ndi katswiri wa maso , dokotala wa mano, ndi ena othandizira azaumoyo kuti ayang'anire zizindikiro zawo akamakula.

Kodi matenda a Cohen Syndrome angapewedwe?

Popeza Cohen Syndrome ndi matenda a majini, palibe njira yopewera vutoli . Ngati mukukonzekera kuyambitsa banja, ndipo wina m'banja mwanu ali ndi vutoli la majini, kapena ngati mukufuna kudziwa za chiopsezo chanu chokhala ndi mwana wokhala ndi vuto lobadwa nalo monga Cohen Syndrome, ndikofunikira kwambiri kulankhula ndi wosamalira mimba kapena wothandizira zaumoyo wanu za kuyezetsa/uphungu wa majini .

Kodi ndiyenera kupita kwa dokotala liti?

Monga wosamalira mwana wanu, mumamudziwa bwino kwambiri. Ngati muwona china chake chachilendo kapena chachilendo pakukula kwake kapena kukula kwake, funsani dokotala wake. Musaope kulankhula za icho, ngakhale chitakhala chinthu chaching'ono chabe.

Samalani kwambiri zomwe mwana wanu akuchita pakukula . Nthawi zambiri ana omwe amapezeka ndi matenda a Cohen Syndrome amatenga nthawi yayitali kuti afike pamlingo wofunikira monga kugubuduzika ndikulankhula mawu awo oyamba. Dokotala wanu angakutsogolereni momwe mungathandizire mwana wanu panthawiyi.

Zadzidzidzi! Ngati mwana wanu akuvutika kupuma, kapena ali ndi khungu ndi misomali yotumbululuka kapena yabuluu, imbani ogwira ntchito zadzidzidzi nthawi yomweyo.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

Mukakambirana ndi dokotala za mwana wanu, zingakhale zothandiza kufunsa mafunso ngati awa:

• Kodi ndiyenera kuchita chiyani ngati mwana wanga akuphonya mfundo zofunika pakukula?
• Ndi zizindikiro ziti zomwe ndiyenera kuyang'anitsitsa?
• Kodi mumalimbikitsa chithandizo chanji?
• Kodi pali zotsatirapo zilizonse za mankhwalawa?
• Kodi ndingathandize bwanji mwana wanga kuchita bwino kusukulu?
• Kodi pali magulu ena a makolo kapena mabungwe omwe tingawafikire kuti atithandize?

Kodi Cohen Syndrome Autism ndi chiyani?

Ayi. Matenda a Autism Spectrum Disorder (ASD) ndi matenda a neurodevelopmental . Cohen Syndrome ndi matenda a majini. Zinthu ziwirizi sizili zofanana. Komabe, ana ambiri omwe amapezeka ndi Cohen Syndrome akhoza kukhala ndi zizindikiro zofanana ndi autism (ASD) (monga mavuto a anthu, machitidwe obwerezabwereza), kapena akhoza kukhala ndi ASD pamodzi ndi Cohen Syndrome. Dokotala angafotokoze izi momveka bwino.

Pomaliza, zomwe muyenera kukumbukira (Uthenga Wopita Nawo Kunyumba)

Ndizachibadwa kumva kupsinjika maganizo ndi chisoni mwana wanu akamalephera kukwaniritsa zolinga zake. Zingakhalenso zovuta kwambiri pamene madokotala akuyesa kuti adziwe zomwe zikuchitika. Komabe, ngakhale kuti matenda a Cohen Syndrome ndi osowa, madokotala akuphunzira zambiri za matendawa komanso momwe angawathanitsire tsiku lililonse.

Mapulogalamu oyambilira angathandize mwana wanu kukwaniritsa zolinga zake zakukula, ngakhale zitatenga nthawi yayitali kuposa ena a msinkhu wake. Popeza Cohen Syndrome ingakhudzenso luso la mwana la nzeru, adzafunika chikondi chanu, chithandizo, ndi thandizo lanu pa moyo wawo wonse.

Musamadzimve ngati muli nokha.Madokotala, akatswiri azachipatala, ndi magulu ena othandizira alipo kuti akuthandizeni inu ndi mwana wanu. Funsani mafunso anu, fotokozani momwe mukumvera. Tikukufunirani mphamvu kuti mupatse mwana wanu zabwino kwambiri!

Matenda a Cohen, Matenda a Majini, Kuchedwa kwa Kukula, Thanzi la Ana, Neutropenia, Microcephaly, Hypotonia