Rett ciwo a yara: haddasawa, cututtuka, da ãyõyinMu, magani. Mene ne halayyar Rett ciwo?

Rett Syndrome - shi ne mai irin m degenerative cuta halin da CNS. Wannan shi ne wani rare genetically m Pathology wanda tasowa, yafi a 'yan mata a wani wuri shekaru. Yana za a iya dangana ga wani rukuni na shafi tunanin mutum da kiwon lafiya da hankulansu cuta, saboda cutar rinjayar da m sassa na jiki: kwakwalwa aiki, al'ada ci gaban da musculoskeletal tsarin, da tsakiya m tsarin. A halin yanzu, likitoci ba zai iya bayar da isasshen magani da cutar, a matsayin hali na ta asalin ta'allaka ne a cikin kwayoyin da salula matakin.

Abin da ke bambanta wannan Pathology daga cikin sanannun Autism? Mene ne hankula cututtuka? Shin yana yiwuwa a warkar da cutar da taimakon magani? Amsoshin wadannan da wasu tambayoyi za a iya samu tare da wannan labarin.

wasu statistics

Rett Syndrome - a kayyade abnormality yanayi, wanda aka yi imanin cewa suna da wani hereditary hali. Domin mafi daidai gudanar da bincike da Sanadin cutar, masana kimiyya sun ga dama shekaru gudanar da wani yankin bincike na yaduwar cutar, wanda ya yi nasara wajen gano wani musamman abin da ya faru na ciwo a yara daga sparsely populated yankin. Wadannan "Aljihuna" da aka gani a Norway, Hungary da kuma Italiya.

A cuta ya fara rayayye gano kawai a lokacin da na karshe shekaru 15. A halin yanzu, gaskiya yanayi da wannan cuta ya rage undiagnosed har karshen. Masana kimiyya daga ko'ina cikin duniya ta ci gaba da karatu wannan batu, babban manufar wanda aka dauke a nazarin halittu alama a duniya a search. A cikin view, shi wanda ya yi daga baya zai haifar da wani sabon da kuma tasiri hanyoyin da magani ba kawai wannan ciwo, amma da yawa da sauran cututtuka irin wannan kwayoyin halitta.

Bisa kididdigar da, 10-15 dubu yara suna haife akwai daya kawai mace yaro da irin wannan ganewar asali. Rett ciwo a boys ne musamman rare kuma yi hannun riga da rai.

A tarihin da cutar

A shekarar 1954, sanannen Austria pediatrician Andreas Rett fara gano wannan cuta cututtuka. A lokacin jarrabawa na biyu 'yan mata da bayyane shafi tunanin mutum da cuta bakan likita lura uncharacteristic ãyõyin gigin-tsufa: hannunka-wringing, matsawa da kuma m riko yatsunsu, shafa hannunsa kamar yadda idan yaro wanke su a karkashin ruwa. Irin wannan yunkuri an maimaita tare da wasu periodicity kuma haka m tare da wani tunanin jihar, lokacin da na fara cikakken nutsewa da kuma kawo karshen tare da kwatsam farko na kururuwarta. Daga bisani, da pediatrician dauki sama da nazarin wadannan biyu lokuta, da kuma samu wani irin na asibiti hoto a wasu tarihi, wanda a yarda da shi wajen gano Pathology a raba naúrar.

By 1966, da gwani kamu da ciwo har yanzu da 31 'yan mata, da kuma daga baya aka buga da sakamakon da shekaru na bincike da dama a Jamus-harshen wallafe. Duk da haka, a lokacin da wani sabon Pathology bai samu m talla, amma bayan shekaru 20 an gane a matakin kasa da kasa da kuma aka kira "Rett ciwo" a cikin girmamawa ga discoverer.

Tun daga nan, masana kimiyya a duniya ya fara karatu ga aiki cuta da ta etiology.

Babban dalilai

Da zarar Pathology za'ayi a raba cuta, masana sun fara sa a gaba daban-daban theories daga cikin Sanadin ta ci gaba. Da farko zaci cewa da cuta ne daban-daban kwayoyin halitta, da cewa shi ne ya zargi gene maye gurbi. Sabawa da wannan hali saboda kasancewar wani babban yawan jini dangantaka a cikin mutum jinsi.

A daya hannun, an nuna chromosomal anomalies a matsayin babban Sanadin cutar. Muna magana ne game da gaban da frangible rabo daga short hannu na X chromosome. Masana kimiyya bayar da shawarar cewa wannan shi ne yankin alhakin samuwar Pathology.

M bincike a kan batun sun nuna cewa marasa lafiya da irin wannan ganewar asali ne a zahiri akwai wasu keta a cikin chromosomes. Yana da wannan factor ne babban dalilin da shafi tunanin mutum cuta, shi ne har yanzu ba a sani ba.

Abinda ya gudanar ya kafa daidai wannan shekaru da marasa lafiya. A cewar likitoci, da farko disturbances a cikin kwakwalwa tashi daga haihuwa na yaro, kuma ta shekara ta huɗu ta rayuwa da ci gaban tsaya a nan gaba daya. Haka kuma, wadannan yara ba zai iya ci gaba da cikakken kuma a wani jiki ji.

A farko alamun Rett ciwo

A sosai farko watanni na rayuwa, jariri ya dubi daidai da lafiya, likitoci yawanci ba tuhuma da wani azzãlumai. Shugaban karkara ne ma a cikin normative sigogi. Abinda ya iya nuna cuta, wannan shi ne a qananan tsoka flaccidity da kuma cututtuka na hypotension. A karshen hada low zazzabi, pallor na fata da kuma wuce kima sweating handprints.

Aƙalla 4-5 watanni to ya zama a bayyane alamun fada a cikin ci gaban da wasu motor skills (rarrafe, mirgina a baya). Daga baya, yara da Rett ciwo wuya zauna da kuma tsaya.

Rett Syndrome: cututtuka

Dabam shi wajibi ne don mayar da hankali a kan key cututtuka, wanda kamu da cutar. A likita yi, akwai lokuta inda ba daidai ba ganewar asali tashe saboda misinterpretation na alamar da cutar, wanda results a cikin m mutuwa. Mene ne halayyar Rett ciwo?

• Specific hannunka ƙungiyoyi. A yara tare da wannan ganewar asali hankali bace basira rike da abubuwa a hannunsa. A wannan yanayin, akwai maimaita motsi, halin da m shuffling na yatsunsu, ko kuma tafi a kirji matakin. A yaro iya ciji hannunka ko buga su da kanka a sassa daban-daban na jiki.
• Shafi tunanin mutum da ci gaba. A cutar halin shafi tunanin mutum retardation da kuma rashin fahimi aiki, wanda shine na hali na jarirai. Wasu jariran saya farko basira na magana da fahimta da wasu, amma a ƙarshe rasa su gaba daya.
• Mai tsananin microcephaly. Saboda wani karu a kwakwalwa size hankali shugabancin girma tsaya a nan ba.
• Seizures. A hallmark na Rett ciwo suna dauke da farfadiya seizures.
• Developing scoliosis. Munanan a cikin kashin baya sashi bayyana jima ko daga baya a duk yara tare da wannan ganewar asali. Dalilin da curvature na baya ne dystonia.

ciwo mataki na ci gaba

Progresses, da cuta ne hudu main saukarwa, kowanne daga abin yana da halayyar da na asibiti hoto.

• Stage №1. A farko karkacewa a yaro ci gaban ce zamanai hudu watanni to game da shekaru biyu. A marasa lafiya da jinkiri girma na kai, akwai tsoka rauni, lethargy da kuma rashin amfani a cikin kewaye duniya.
• Stage №2. Idan jariri ya koya wa tafiya har zuwa shekara ko furta wasu kalmomi, duk wadannan dabarun yawanci bace daga daya zuwa shekaru biyu. A wannan mataki akwai takamaiman magudi da hannuwa, numfashi matsaloli, tashin hankali na al'ada daidaituwa. Wasu yara da seizures. Symptomatic magani na Rett ciwo a wannan mataki da ya rage wanda ba a gama ba.
• Stage №3. Tsakanin shekaru uku zuwa tara shi ne barga. The uku mataki ne halin shafi tunanin mutum retardation, extrapyramidal cuta a lokacin da ya maye gurbin twitching "mãyen" da kuma numbness.
• Mataki №4. A wannan mataki na cutar da ake yawanci gani babu ja da lalacewar da autonomic tsarin da kuma kashin baya. By da shekaru goma da marasa lafiya na iya rage mita na kai hare-hare, amma gaba daya abyss fasaha na m tafiya. A wannan jiha, yara za su iya zama shekaru da dama. Duk da gagarumin sabawa a jiki ci gaba, marasa lafiya da cikakken balaga.

Duk na sama bayyanar cututtuka zai iya sanin ko a abin da mataki shi ne Rett ciwo. Alamun cutar bambanta dangane da gudun ci gaban da cutar da kuma wasu mutum siffofin na jiki.

Yadda za a gane Pathology?

Ganewar asali da cutar ne m wani asibiti hoto kiyaye. Lokacin da tuhuma da wannan cuta yara yawanci aika zuwa hardware gwaje-gwaje. Yana hada gwaji jihar na kwakwalwa ta CT ji na ta bioelectric aiki da EEG da kuma duban dan tayi.

Cuta, musamman a farkon matakai na raya kasa, sau da yawa a gauraye da Autism. Duk da haka, akwai da dama daga bambance-bambance da bambance wadannan biyu mabanbanta pathologies.

A farko 'yan watanni na rayuwa, autistic yara riga akwai halayyar alamun cutar da cewa ba za a iya ce game da Rett ciwo. Lokacin da autistic cuta, yara sukan koma ga daban-daban jan tare da abubuwan dake kewaye, da kuma da peculiar alherin. Rett ciwo ne mafi sau da yawa gani a yara stiffness a da ƙungiyoyi saboda mota da kuma murdede cuta. Haka kuma, shi ne tare da shafe tsawon farfadiya seizures, deceleration na shugaban girma da kuma wahala numfashi. Saboda haka, dace hali bambanci ganewar asali daidai ƙayyade da asali nau'i na cutar, kazalika da ya dace magani da kuma fi matakan.

miyagun ƙwayoyi far

Hanyoyin zamani na zalunta wata cuta, da aka rashin alheri iyakance. A key yanki na far - sassauta symptomatic manifestations da cutar da kuma ya ɗauke da yanayin matasa marasa lafiya yin amfani da kwayoyi. Abin da magunguna suna wajabta wa yara da ganewar asali "Rett ciwo"? Jiyya yawanci qunshi:

1. Yanayin aiki anticonvulsants tarewa epilepsy.
2. Da amfani da "Melatonin" ga tsari na nazarin halittu yanayin da rana / dare.
3. Da amfani da kwayoyi don inganta jini wurare dabam dabam da kuma kara kuzari na kwakwalwa.

Idan seizures sake aukuwa tare da mai mita, anticonvulsants yadda ya dace na iya zama low. Yawanci, yara da wannan cuta wajabta "carbamazepine". Wannan kayan aiki ne classified a matsayin karfi anticonvulsants.

A a layi daya, yawanci wajabta "lamotrigine". Wannan yana nufin gwada da kwanan nan ya bayyana a pharmacology. Yana hana shigar azzakari cikin farji na monosodium gishiri a cikin CNS. Masana kimiyya sun gano ƙara abun ciki na dũkiyõyinsu a cerebrospinal ruwa marasa lafiya tare da ganewar asali "Rett ta ciwo". A dalilan da wannan sabon abu ne har yanzu ba a sani ba.

gargajiya hanyoyin kwantar da hankali

Bugu da kari ga miyagun ƙwayoyi jiyya, likitoci bayar da shawarar musamman rage cin abinci. An sanya a kan wani mutum dalilin nauyi riba. A rage cin abinci ya zama mai arziki a zare, bitamin da kuma sinadirai kayayyakin. Wannan na bukatar m ciyar (kowane sa'o'i uku). Irin wannan abincin na taimaka wa karfafawa daga cikin marasa lafiya.

A lura kuma ya hada da wani tausa da kuma musamman bada. Irin zaman da jiki aiki taimakawa ga ci gaban da yaron wata gabar jiki, kara da sassauci daga daban-daban sassan jiki, kazalika ta da tsoka sautin.

Masana sun lura cewa music yana da amfani tasiri yara tare da wannan cuta. Yana ba kawai soothes, amma kuma stimulates amfani a duniya a kusa da su.

Rett ciwo a yara a yau suna bi a cikin na musamman fi cibiyoyin. Su ne samuwa a kusan dukkanin manyan birane. A nan, matasa marasa lafiya daidaita da wa duniya a kusa da su rike musamman ilimi azuzuwan.

kintace

Domin sanya zama dole magani, masana kimiyya daga ko'ina cikin duniya ta ci gaba da rayayye gano Rett ciwo. Forecast kwararru a wannan tambaya a cikin m. A lokacin, masu tasowa, musamman kara Kwayoyin, ta hanyar da zai iya daga baya za a shawo kan wannan mummunan cuta. Haka kuma, irin wannan "magani", an riga an samu nasarar gwada a dakin gwaje-gwaje beraye.

A cikin wannan labarin, an gaya mana cewa shi ne Rett ciwo. Photos of yara da tawaya za a iya samu a cikin na musamman likita reference books. Wannan ne mai matukar rare cutar, wanda aka yafi kamu a 'yan mata. Idan muka kwatanta da shafi tunanin mutum retardation, wannan ciwo a cikin ta farko 'yan watanni na rayuwa ba a bayyana ta waje ãyõyi. A watanni shida, akwai matsaloli tare da psychomotor ci gaba, yaro ya rasa duk da basira da kuma cikakken bai karɓa wa kewaye mamaki da kuma abubuwa. Tare da na asibiti hoto samun muni a kan lokaci. Abin takaici, wannan cuta ba za a iya lashe tabbatacce. Modern magani yayi wani iri-iri na magunguna don rage bayyanar cututtuka da cutar. Bugu da kari, wani m tasiri a kan yaro ta kiwon lafiya physiotherapy (bada, massages), da horo a cikin na musamman fi cibiyoyin da kuma asibitoci.

Muna fatan cewa duk bayar bayanai a wannan labarin, a kan topic zai zama a gare ku zuwa ga zahiri zama da amfani. Zauna lafiya!