Rett ciwo

Rett syndrome (RTT) cuta ce ta tsarin juyayi. Wannan yanayin yana haifar da matsalolin ci gaban yara. Yafi shafar kwarewar yare da amfani da hannu.

RTT yana faruwa kusan koyaushe a cikin girlsan mata. Ana iya bincikar shi azaman rashin lafiya ko nakasar kwakwalwa.

Yawancin shari'ar RTT suna faruwa ne saboda matsala a cikin kwayar halittar da ake kira MECP2. Wannan kwayar halittar tana jikin X chromosome. Mata suna da chromosomes 2 X. Koda lokacin chromosome daya yana da wannan lahani, sauran X chromosome din na al'ada ne don yaro ya rayu.

Mazajen da aka haifa da wannan ƙwayoyin halittar ba su da chromosome ta X ta biyu don magance matsalar. Saboda haka, lahani yawanci yakan haifar da zub da ciki, haihuwa baƙuwa, ko mutuwar da wuri.

Jariri tare da RTT galibi yana da ci gaban al'ada na farkon watanni 6 zuwa 18. Kwayar cututtukan suna farawa daga mara nauyi zuwa mai tsanani.

Kwayar cutar na iya haɗawa da:

• Matsalar numfashi, wanda na iya zama mafi muni tare da damuwa. Numfashi yawanci al'ada ne yayin bacci da rashin al'ada yayin farkawa.
• Canji a ci gaba.
• Yawu mai yawa da narkewa.
• Floppy hannaye da kafafu, wanda akai-akai shine farkon alama.
• Rashin hankali da matsalolin ilmantarwa.
• Scoliosis.
• Shaky, mara ƙarfi, tafiya mai ƙarfi ko yatsan kafa.
• Kamawa.
• Girman kai a hankali yana farawa daga watanni 5 zuwa 6 na shekara.
• Rashin yanayin bacci na yau da kullun.
• Rushewar motsin hannu mai ma'ana: Misali, an maye gurbin abin da aka yi amfani da shi don ɗaukar ƙananan abubuwa ta hanyar maimaita motsi kamar maɓallin hannu ko sanya hannu a cikin baki.
• Rashin haɗin zamantakewa.
• A ci gaba, tsananin maƙarƙashiya da ƙoshin ciki (GERD).
• Rashin yawo wanda zai iya haifar da sanyi da hannaye da kafafu.
• Matsalolin ci gaban harshe masu tsanani.

SAURARA: Matsaloli tare da yanayin numfashi na iya zama mafi tayar da hankali da alama mai wahala ga iyaye su kalla. Dalilin da ya sa suke faruwa da abin da za a yi game da su ba a fahimta da kyau. Yawancin masana sun ba da shawarar cewa iyaye su kwantar da hankula ta hanyar sakin numfashi ba kakkautawa kamar riƙe numfashi. Yana iya taimaka ka tunatar da kanka cewa numfashi na al'ada koyaushe yana dawowa kuma ɗanka zai saba da yanayin numfashi mara kyau.

Ana iya yin gwajin kwayar halitta don neman larurar kwayar halitta. Amma, tun da ba a gano lahani a cikin kowa da ke da cutar ba, ganewar asali na RTT ya dogara ne da alamun bayyanar.

Akwai nau'ikan RTT daban-daban:

• Atypical
• Na gargajiya (ya cika ka'idodin bincike)
• Na wucin gadi (wasu alamun bayyanar sun bayyana tsakanin shekaru 1 zuwa 3)

An rarraba RTT azaman atypical idan:

• Yana farawa da wuri (jim kaɗan bayan haihuwa) ko kuma ƙarshen (bayan watanni 18, wani lokacin har yakai shekaru 3 ko 4)
• Maganganu da matsalolin ƙwarewar hannu ba su da yawa
• Idan ya bayyana a cikin yaro (mai matukar wuya)

Jiyya na iya haɗawa da:

• Taimaka tare da ciyarwa da diaper
• Hanyoyin magance maƙarƙashiya da GERD
• Jiki na jiki don taimakawa hana matsalolin hannu
• Gwajin ɗaukar nauyi tare da scoliosis

Feedarin ciyarwa na iya taimakawa tare da saurin haɓaka. Ana iya buƙatar bututun ciyarwa idan yaron ya shaƙa a cikin abinci (mai burin). Abincin da ke cike da adadin kuzari da mai mai haɗe tare da shayarwar shayarwa na iya taimakawa haɓaka nauyi da tsawo. Karuwar nauyi na iya inganta faɗakarwa da ma'amala tsakanin jama'a.

Za a iya amfani da magunguna don magance kamuwa da cuta. Mayila a gwada ƙarin don maƙarƙashiya, faɗakarwa, ko tsokoki masu tsauri.

Tsarin kwayar halitta mai tushe, shi kaɗai ko a hade tare da maganin jinsi, wani magani ne mai bege.

Groupsungiyoyin masu zuwa na iya ba da ƙarin bayani game da cututtukan Rett:

• Gidauniyar International Rett Syndrome Foundation - www.rettsyndrome.org
• Cibiyar Nazarin Ciwon Lafiyar Jiji da Ciwan Gaji - www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet
• Nationalungiyar forasa don Rare Rashin Lafiya - rarediseases.org/rare-diseases/rett-syndrome

Cutar ta zama sannu a hankali tana ƙaruwa har zuwa shekarun samartaka. Bayan haka, bayyanar cututtuka na iya inganta. Misali, kamuwa ko matsaloli na numfashi suna raguwa a ƙarshen samartaka.

Ci gaban jinkiri ya bambanta. Yawancin lokaci, yaro mai RTT yakan zauna da kyau, amma ƙila ba ya rarrafe. Ga waɗanda suke rarrafe, da yawa suna yin hakan ta hanyar leƙen ciki ba tare da amfani da hannayensu ba.

Hakanan, wasu yara suna tafiya da kansu cikin ƙarancin shekarun, yayin da wasu:

• An jinkirta
• Kada ku koyi yin tafiya da kan ku kwata-kwata
• Kada ku koyi yin tafiya har zuwa ƙarshen ƙuruciya ko ƙuruciya

Ga waɗancan yaran da suka koya yin tafiya a lokacin da suka saba, wasu suna kiyaye wannan damar har tsawon rayuwarsu, yayin da wasu yara ke rasa ƙwarewar.

Ba a yi nazarin tsinkayen rayuwa da kyau ba, kodayake rayuwa aƙalla har zuwa tsakiyar 20s mai yiwuwa ne. Matsakaicin tsinkayen rayuwar 'yan mata na iya zama tsakanin 40s. Mutuwa galibi tana da alaƙa da kamun kai, ciwon huhu na fata, ƙarancin abinci mai gina jiki, da haɗari.

Kira mai ba da sabis na kiwon lafiya idan kun:

• Yi damuwa game da ci gaban ɗanka
• Ka lura da rashin ci gaban al'ada tare da motsa jiki ko ƙwarewar yare a cikin ɗanka
• Ka yi tunanin ɗanka yana da matsalar lafiya da ke buƙatar magani

RTT; Scoliosis - Rett ciwo; Rashin hankali na hankali - Rett syndrome

Kwon JM. Cutar cututtukan Neurodegenerative na yara. A cikin: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Littafin koyar da ilimin yara. 20th ed. Philadelphia, PA: Elsevier; 2016: babi 599.

Mink JW. Cutar ciki, ci gaba, da cututtukan neurocutaneous. A cikin: Goldman L, Schafer AI, eds. Magungunan Goldman-Cecil. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016: babi na 417.