Ciwon Phelan-McDermid gabatar a matsayin "rare" cuta da yana da alaƙa da nakasawar ilimi ko rashin ƙarfi tare da autism. Wannan cuta ta shafi mutane tsakanin 2.500 zuwa 5.000 a Spain, sanin cewa yawancin an gano su a asibitoci ta ƙungiyar kwararru.
Cutar Chelan McDermind Syndrome cuta ce da ba a sani ba kuma tana da wuyar ganewa A bincikensu na farko, waɗannan ƙwararrun ne kawai, ta hanyar gwaje-gwaje iri-iri da kuma kulawar likita mai zuwa, suka isa wannan cutar. Babban abin da ya faru shine canzawar chromosome 22 kuma a cikin kowane yaro yana haɓaka daban.
Menene Phelan-McDermid Syndrome?
Wannan cuta tana halin maye gurbi na chromosome 22q13 haifar a mafi yawan lokuta ta rashi ko canjin kwayar SHANK3, da wacce kwayar halittar haihuwa ta bata daga karshen chromosome 22.
Rashin wannan kwayoyin yana faruwa yayin rabewar sel. A halin yanzu da chromosomes dole suyi tsari kuma su daidaita, wasu daga cikinsu sun karye kuma sun ɓace. Hanyar da wannan aikin yake faruwa ba shi da tushe tare da cikakken bayani, kuma ba gado ba ne.
Phelan-McDermid manyan halaye
Tare da rashin kwayar SHANK3, yawancin yara suna kamuwa da cutar hypotonia, karamin sautin tsoka sannan kuma jinkiri a fannin ci gaban cigaban rayuwa, yana shafar yawancin su a cikin yare. Yawancinsu suna da autism.
Ci gabanta yayin duk matakai yana canzawa tare da jinkiri kuma kamar yadda muka fada akwai rashin magana ko jinkiri wajen aiwatar da ita. Har ila yau, hankalinsa zai ci gaba a makare.
A cikin sifofin jikinsu na iya zama halayyar wannan cuta, wasu za su haɓaka canje-canje kuma za su zama mabanbanta, wasu na iya zama ba a sani ba:
- Yayin cigaban sassan jikinka, fiye da kashi 75% suna da ci gaban al'adaMisali babban hannu ne na jiki, kusoshi tare da wani girma na daban, suna iya zama kanana da sirara sannan kuma da shekaru sai suyi kauri suna girma gefensu zuwa ciki. Dogayen gashin ido da girare masu kauri,
- A cikin kashi 50 cikin XNUMX na shari'ar za su iya gabatar da sifar madaidaiciya da kunkuntar kai, tare da manyan kunnuwa masu girma, tare da kumbura da kumbura ido, idanun sunkushe, daidaita shimfidar tsakiyar fuska, hancin hancin hanci ko babbar gada ta hanci, kaifi mai kaifi, mai daddawa.
- Suna da kayan aiki don zafi fiye da kima wasu kuma suna da ragin radadi a jikinsu. A lokacin da yake shan wahala suna da ƙananan ƙofar kaɗan fiye da al'ada.
- da matsalolin ci da sha suna gama gari ne saboda hypotonia.
- 15% suna da cysts na arachnoid (kumburi cike da ruwa wanda ke bunkasa a saman kwakwalwa).
- Sauran matsalolin da basu cika faruwa ba amma halayen halayen sune matsalolin hangen nesa kamar su strabismus, otitis, lymphedema (kumburin hannaye da ƙafafu), reflux na gastroesophageal, matsalolin koda, cutar gudawa ko ciwan jiki.
Jiyya don cutar Phelan-McDermid
Ganowar ku an tabbatar da shi kusan shekaru uku kuma cuta ce da ba ta da magani. Kodayake, akwai hanyoyin kwantar da hankali iri-iri da taimako don iya jimre wa matsalolinku da ƙananan matsalolinku kowace rana.
Akwai cibiyoyi na musamman inda yaro zai iya halarta domin bi ci gaban juyin halitta gwargwadon halayensa. A cikin wannan nau'ikan kara kuzari akwai masu koyar da magana, mutane da ke fama da larurar yare, dasa yaren kurame da ci gaban sadarwa sakamakon autism.
Mafi yawan waɗannan maganin suna dogara ne akan hanyoyin kwantar da hankali, Daga cikin su akwai kwararru a fannin tabin hankali, aikin yi, maganin kaifin kwakwalwa, azanci da kuma likitan kwantar da hankali.
Ga sauran halayen da zai iya haɓaka, gami da na zahiri, zai buƙaci jinya don iya magance waɗannan cututtukan kamar yadda ya kamata.