Kodi mwana wanu nthawi zonse amakhala wosangalala? Ikhoza kukhala matenda osowa kwambiri a majini (Angelman Syndrome)

Ndi chisangalalo kwa kholo lililonse kuona mwana wawo akumwetulira komanso akusangalala nthawi zonse, sichoncho? Koma kodi munayamba mwaganizapo kuti nthawi zina kusangalala kumeneku komanso kuchita m'manja nthawi zonse kungakhale chizindikiro cha matenda osowa kwambiri a majini? Mungadabwe kumva izi. Lero tikulankhula za vuto limodzi lotere, Angelman Syndrome.

Mwachidule, kodi Angelman Syndrome ndi chiyani?

Matenda a Angelman ndi matenda osowa kwambiri omwe amakhudza kukula, kulankhula, kulinganiza bwino, ndi kuyenda kwa mwana wanu. Nthawi zina, angayambitsenso khunyu.

Mukayang'ana mwana amene ali ndi vutoli, mudzazindikira kuti nthawi zonse amakhala osangalala komanso ali ndi maganizo abwino kuposa mwana wamba. Amamwetulira kwambiri, amaseka mokweza. Amachita zinthu ngati akugwedeza dzanja akasangalala. Ndipotu, timasangalalanso tikaona mwana akumwetulira. Chifukwa chake, zingakuwonekere zachilendo kuganiza kuti chibadwa cha mwana chosangalalachi chingakhale chizindikiro cha matenda.

Zizindikiro zina zingayambe kuonekera mwana akamakula. Mwachitsanzo, mungayambe kuona kuchedwa kwa chitukuko , monga kusanena mawu ake oyamba akakwanitsa chaka chimodzi. Matenda a khunyu angayambenso pakati pa zaka ziwiri ndi zitatu.

Kodi vutoli ndi lofala bwanji?

Matenda a Angelman ndi matenda osowa kwambiri , omwe amakhudza pafupifupi munthu mmodzi pa anthu 12,000 mpaka 20,000.

Kodi zizindikiro za Angelman Syndrome ndi ziti?

Zizindikiro za matendawa zimatha kusiyana malinga ndi munthu komanso malinga ndi zaka. Tiyeni tizigawe m'magulu awiri.

Zinthu zapadera zomwe ana awa adaziona pankhope zawo

• Chigaza chachifupi komanso chachikulu `(brachycephaly)`
• Lilime lalikulu `(macroglossia)`
• Mutu wocheperako kuposa wamba (microcephaly)
• Prognathia ya m'chiuno
• Pakamwa potambalala
• Mipata yayikulu pakati pa mano

Zizindikiro zimenezi zingaonekere kwambiri mukamakula.

N’chifukwa chiyani matenda a Angelman amachitika? Kodi chifukwa chake n’chiyani?

Tangoganizani kuti matupi athu ali ndi mabuku ophunzitsira. Timatcha majini awa. Majini awa amalamulira chilichonse m'thupi lathu. Angelman Syndrome imayamba chifukwa cha kusintha kapena cholakwika mu jini yotchedwa `UBE3A` . Jini iyi ndi yofunika kwambiri pakulamulira magwiridwe antchito a mitsempha yathu.

Kawirikawiri, timapeza makope awiri a jini iliyonse, imodzi kuchokera kwa amayi athu ndi ina kuchokera kwa abambo athu. M'zigawo zambiri za thupi, makope onse awiriwa amakhala akugwira ntchito. Komabe, m'madera ena a ubongo, kope la jini `UBE3A` lomwe timalandira kuchokera kwa amayi athu ndi lomwe limagwira ntchito.

Ngati kopi ya jini ya `UBE3A` yochokera kwa mayi yawonongeka kapena kutayika, palibe jini yogwira ntchito ya `UBE3A` m'zigawo zimenezo za ubongo. Ichi ndiye chifukwa chachikulu cha zizindikiro zokhudzana ndi Angelman Syndrome.

Kodi madokotala amazindikira bwanji matendawa?

Zizindikiro za matendawa nthawi zambiri sizimaonekera pobadwa. Madokotala nthawi zambiri amazindikira matendawa mwana akafika zaka zapakati pa chaka chimodzi ndi zinayi.

Ngati dokotala ataona kuti mwanayo akukula pang'onopang'ono, monga kusalankhula motsatira liwiro loyenera msinkhu wake kapena kusayamba kuyenda, akhoza kukayikira. Kenako adzafufuza mosamala khalidwe la mwanayo ndi zizindikiro zina.

Kuti atsimikizire matendawa, kuyezetsa majini kumafunika. Mayesowa amatha kudziwa molondola ngati pali cholakwika mu jini ya `UBE3A`.

Kodi n'zotheka kuzindikira matendawa molakwika?

Inde, nthawi zina zimakhala choncho, chifukwa zizindikiro za Angelman Syndrome zimafanana ndi matenda ena angapo.

• Matenda a Autism spectrum
• Matenda a ubongo
• Matenda a Prader-Willi

Popeza kuti zinthu ngati zimenezi zingagwirizane, kuyezetsa majini n’kofunika kwambiri kuti munthu adziwe matenda molondola.

Kodi mankhwala a Angelman Syndrome ndi ati?

Pakadali pano palibe mankhwala a Angelman Syndrome. Komabe, pali njira zambiri zothandizira zomwe zingathandize kuchepetsa zizindikirozo ndikuthandiza mwana kukhala ndi moyo wabwino.

• Mankhwala oletsa kugunda kwa mtima: Perekani mankhwala omwe dokotala wakupatsani moyenera.
• Chithandizo cha kulankhula: Kuthandiza mwana kufotokoza maganizo ake pogwiritsa ntchito chilankhulo cha manja, zithunzi, ndi zipangizo zapadera zolankhulirana.
• Kuchiza thupi: Kumathandiza kuyenda bwino, kulinganiza bwino zinthu, komanso kugwirizana bwino.
• Chithandizo cha ntchito: Kuphunzitsa mwana kuti azitha kugwira ntchito za tsiku ndi tsiku payekha komanso kuti akhale wodziyimira pawokha.
• Zipangizo zothandizira: Kugwiritsa ntchito zomangira kumbuyo, akakolo, kapena mapazi kuti zithandize kuyenda ndi kuyimirira.
• Pa mavuto ogona: Khazikitsani chizolowezi chogona bwino ndipo khalani ndi chizolowezi chogona nthawi yoikika.
• Pa mavuto a m'mimba: Perekani mankhwala olembedwa ndi dokotala.

Zosowa za chithandizo cha mwana aliyense zimasiyana. Dokotala wanu adzasankha njira yabwino kwambiri yothandizira kutengera zizindikiro ndi zosowa za mwana wanu.

Kodi ndingachite chiyani kuti ndisamalire mwana wanga?

Monga makolo, muli ndi gawo lalikulu loti muchite.

• Perekani mankhwala omwe dokotala wakupatsani pa nthawi yake komanso mu mlingo woyenera.
• Onetsetsani kuti mwapita kuzipatala zomwe zimaona momwe mwana wanu akukulira.
• Muuzeni mwana wanu kuti achite nawo maphunziro olimbitsa thupi, ntchito, komanso kulankhula.
• Onetsetsani kuti mukupita kwa dokotala nthawi iliyonse yomwe mwakonza.

Ana omwe ali ndi Angelman Syndrome angafunike thandizo pa zochita zawo za tsiku ndi tsiku m'miyoyo yawo yonse. Gulu lachipatala lomwe likuchiza mwana wanu lidzakupatsani chithandizo ndi upangiri womwe mukufuna.

Kodi muyenera kukaonana ndi dokotala liti?

Mwana amene ali ndi vutoli amafunika kupimidwa nthawi zonse ndi dokotala kuti atsimikizire kuti mankhwala ndi njira zochiritsira zikugwira ntchito bwino. Ngati muwona kusintha kulikonse kwatsopano kapena kuipiraipira kwa zizindikiro za mwana wanu, dziwitsani dokotala wanu nthawi yomweyo.

Kodi tsogolo la ana awa lidzakhala lotani?

Anthu ambiri omwe ali ndi matenda a Angelman Syndrome amakhala ndi moyo wabwinobwino. Izi zikutanthauza kuti safa msanga chifukwa cha matendawa. Pamene mwana akukula, padzakhala kuchedwa kwa kayendedwe, kulankhula, ndi kukula. Komabe, mwanayo amatha kusewera, kuphunzira, ndi kugwira ntchito ndi ana ena.

Anthu ena akakula, amatha kukhala okha ndi chithandizo, ena angafunike chisamaliro cha nthawi zonse.

N'zomveka kumva katundu wolemera mukazindikira kuti kumwetulira kokongola kwa mwana wanu ndi chizindikiro cha matenda. Koma kumbukirani, ngakhale mutapezeka ndi matendawa, mwana wanu adzakhalabe ndi kumwetulira kokoma, kumwetulira kokoma. Chofunika kwambiri ndikusamala za kukula kwa mwana wanu ndikupereka chithandizo chofunikira panthawi yake, monga momwe dokotalayo akunenera. Dokotala wanu ndi gulu lachipatala adzakuthandizani panjira iliyonse. Choncho musaope kufunsa mafunso ndikuphunzira zambiri za vutoli.