Matenda a Angelman

Angelman syndrome (AS) ndi chibadwa chomwe chimayambitsa mavuto ndi momwe thupi la mwana ndi ubongo zimakulira. Matendawa amapezeka kuyambira pakubadwa (kobadwa nako). Komabe, nthawi zambiri sichipezeka mpaka pafupifupi miyezi 6 mpaka 12 yakubadwa. Apa ndipamene mavuto azachitukuko amawoneka koyamba nthawi zambiri.

Izi zimakhudza jini UBE3A.

Ma jini ambiri amabwera awiriawiri. Ana amalandira m'modzi kuchokera kwa kholo lililonse. Nthaŵi zambiri, majini onsewa amagwira ntchito. Izi zikutanthauza kuti zidziwitso kuchokera kuma jini onsewa zimagwiritsidwa ntchito ndimaselo. Ndi fayilo ya UBE3A jini, makolo onse amawapatsira, koma ndi jini yokha yomwe mayi amapatsira kuchokera kwa mayi ndiyomwe imagwira ntchito.

Matenda a Angelman nthawi zambiri amapezeka chifukwa UBE3A kuperekedwa kuchokera kwa mayi sikugwira ntchito momwe ziyenera kukhalira. Nthawi zina, AS imachitika pomwe makope awiri a UBE3A jini imachokera kwa bambo, ndipo palibe kuchokera kwa mayi. Izi sizikutanthauza kuti jini sichigwira ntchito, chifukwa onse amachokera kwa bambo.

Mu akhanda ndi makanda:

• Kutayika kwa mamvekedwe a minofu (kuwuluka)
• Kuvuta kudyetsa
• Kutentha pa chifuwa (asidi reflux)
• Kugwedeza dzanja ndi miyendo

Mwa ana ndi ana okulirapo:

• Kusakhazikika kapena kuyenda mosakhazikika
• Kulankhula pang'ono kapena ayi
• Wokondwa, umunthu wosangalatsa
• Kuseka ndi kumwetulira nthawi zambiri
• Tsitsi lowala, khungu, ndi maso poyerekeza ndi mabanja ena onse
• Kukula kwamutu pang'ono poyerekeza ndi thupi, mutu wokhazikika pamutu
• Kulemala kwakukulu kwamaluso
• Kugwidwa
• Kusuntha kwambiri kwa manja ndi ziwalo
• Mavuto ogona
• Lilime likukankha, likumeza
• Kutafuna kosazolowereka ndi kuyenda pakamwa
• Maso owoloka
• Kuyenda ndikukweza mikono ndikukweza manja

Ana ambiri omwe ali ndi vutoli samawonetsa zizindikiro mpaka miyezi 6 mpaka 12. Apa ndi pamene makolo angaone kuchedwa kwa kukula kwa mwana wawo, monga kusakwawa kapena kuyamba kuyankhula.

Ana azaka zapakati pa 2 ndi 5 amayamba kuwonetsa zizindikilo monga kuyenda mosakhazikika, kukhala osangalala, kuseka pafupipafupi, osalankhula, komanso mavuto anzeru.

Mayeso achibadwa amatha kudziwa matenda a Angelman. Mayeserowa amayang'ana:

• Ma chromosomes osowa
• Kuyesa kwa DNA kuti muwone ngati makope a jini kuchokera kwa makolo onsewa sakugwira ntchito kapena ayi
• Kusintha kwa Gene mu mtundu wa amayi wa jini

Mayesero ena atha kuphatikizira:

• MRI yaubongo
• EEG
  

Palibe mankhwala a matenda a Angelman. Chithandizo chimathandizira kuthana ndi mavuto azaumoyo ndi chitukuko omwe amayamba chifukwa cha vutoli.

• Mankhwala a anticonvulsant amathandiza kuchepetsa khunyu
• Khalidwe lothandizira limathandizira kuthana ndi nkhawa, mavuto ogona, komanso zovuta
• Mankhwala othandizira pantchito ndi kulankhula amalimbana ndi mavuto olankhula komanso amaphunzitsa maluso
• Thandizo lakuthupi limathandizira pamavuto oyenda komanso kuyenda
  

Angelman Syndrome Foundation: www.angelman.org

AngelmanUK: www.angelmanuk.org

Anthu omwe ali ndi AS amakhala pafupi ndi moyo wamba. Ambiri ali ndi anzawo ndipo amacheza ndi anzawo. Chithandizo chimathandizira kukonza magwiridwe antchito. Anthu omwe ali ndi AS sangakhale paokha. Komabe, amatha kuphunzira ntchito zina ndikukhala ndi ena pamalo oyang'aniridwa.

Zovuta zingaphatikizepo:

• Kugwidwa kwakukulu
• Reflux ya gastroesophageal (kutentha pa chifuwa)
• Scoliosis (msana wopindika)
• Kuvulala mwangozi chifukwa cha kusayenda kosalamulirika

Itanani yemwe akukuthandizani ngati mwana wanu ali ndi zodwala.

Palibe njira yopewera matenda a Angelman. Ngati muli ndi mwana yemwe ali ndi AS kapena mbiri yabanja yokhudzana ndi vutoli, mungafune kuyankhulana ndi omwe amakuthandizani musanakhale ndi pakati.

Dagli AI, Mueller J, Williams CA. (Adasankhidwa) Matenda a Angelman. Zowonjezera. Seattle, WA: Yunivesite ya Washington; 2015: 5. PMID: 20301323 www.ncbi.nlm.nih.gov/pubmed/20301323. Idasinthidwa pa Disembala 27, 2017. Idapezeka pa Ogasiti 1, 2019.

Kumar V, Abbas AK, Aster JC. Matenda achibadwa ndi ana. Mu: Kumar V, Abbas AK, Aster JC, olemba, eds. Matenda Akuluakulu a Robbins. 10th ed. Philadelphia, PA: Elsevier; 2018: mutu 7.

Madan-Khetarpal S, Arnold G. Matenda amtundu komanso zovuta za dysmorphic. Mu: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli ndi Davis ’Atlas of Pediatric Physical Diagnosis. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: mutu 1.

Nussbaum RL, McInnes RR, Willard HF (Adasankhidwa) Chromosomal and genomic maziko a matenda: zovuta zama autosomes ndi ma chromosomes ogonana. Mu: Nussbaum RL, McInnes RR, Willard HF, olemba. Thompson & Thompson Genetics mu Mankhwala. 8th ed. Philadelphia, PA: Elsevier; 2016: mutu 6.