Rett maʻi pale i loko o nā keiki: mea, lalau mai, symptoms, na hoailona, lapaau. He aha ka ano o Rett maʻi pale?

Rett maʻi pale - mea he ano o ka holumua ai degenerative maʻi wehewehe aku e CNS. He He pohihihi keia genetically nānā 'pathology i hoʻomōhala ana iʻano nui i loko o na kaikamahine ma ka koke elemakule. Ua hiki e wahi ana i ka pae ana o ka noʻonoʻo 'ana a me ka noʻonoʻo' kāna hana, no ka mea, ka mea maʻi e loli ai i ka wahi o ke kino: o ka lolo functioning, maʻamau kūpono 'ana o ka musculoskeletal'ōnaehana, ka Central ko mākou hopohopo nenoaiu. Currently, kauka hiki ole kaumaha e pono lapaau ana i ka mai, e like me ke ano o kona kumu moe i loko o ka hakakino a me ke kelepona heleʻilikai.

Ai kā kēia pathology, mai ka punawai-ike autism? He aha nō ka typical symptoms? Ua mea hiki e hoola i ka maʻi a me ke kōkua o ka lapaʻauʻia? Pane i kēia mau mea a me na mea he nui nā nīnau hiki ke loaʻa i kēia 'atikala.

kekahi mau 'ikepili helu

Rett maʻi pale - he aaiaoe abnormality o ke ano maoli, a ua manaoio no i ka hereditary külana. I mea e oi pololei noiʻi ana i nā kumu o ka maʻi, kńnaka i no kekahi mau makahiki lawelawe 'ia he kenekoa Ka Ikepili o ka laha ana o ka maʻi, i pomaikai ae la lakou e kuhikuhi i kekahi mea hiki wale mai o ka maʻi pale i loko o nā keiki, mai ka sparsely na kanaka] wahi. Mau "ʻekeʻeke" i kaulana i loko o Norway, Hungary a me Italy.

Ka maʻi, hoomaka ae la e 'Imi makaikai wale iloko o ka hope 15 makahiki. I kēia manawa, i ke ano oiaio o keia maʻi koe undiagnosed a hiki i ka hopena. Epekema mai a puni ka honua hoʻomau i ka hoʻopaʻa haʻawina i kēia pukana, ke kumu manao o ke i ua noʻonoʻo i ka liluwelo peni mäka o ke ao huli 'ana. I ko lakou manao, ka mea, ua iho la ka mea hope, e hana i kekahi hou pono a me ka hakakā o ka hana ole wale no keia maʻi pale, akā, nui no hoi na maʻi like aaiaoe ano.

Wahi a ka 'ikepili helu, 10-15 tausani na keiki i hanau malaila mea hoʻokahi wale nō wahine keiki me ia i kaʻike,. Rett maʻi pale i loko o nā keikikāne ka loa pohihihi a me ka mea incompatible me ke ola.

I ka moolelo o ka maʻi

I ka makahiki 1954, ka mea kaulana'Aukekulia pediatrician Manuela Rett ike mua i kēia maʻi symptoms. Ma ka hookolokolo ana o ka mau kaikamahine me ka maopopo ka noʻonoʻo 'kāna hana pae kauka i kekahi uncharacteristic na hoailona o ka dementia: lima-wringing, mīkini'opihia a me kaʻaoʻaoʻelua loaʻa manamana lima, anaanai iho i kona mau lima me he mea holoi i ke keiki ia ma lalo o ka wai. i hai ia ka neʻe 'ana me ka kekahi periodicity, a pela lolelua ka pu ma ka mea naʻau moku'āina, e hoʻomaka ana i ka piha kaiapuni a pau me ka ulia hookahi o screams. A laila, i ka pediatrician i i ka hoʻopaʻa 'ana o kēia mau hihia, a ua loaʻa i ka like lapaʻau kiʻi i loko o nā moʻolelo, i' ae 'ia e hōʻike pathology ma ke kaʻawale mokuna.

I ka 1966, i ka hoʻomalu diagnosed ka maʻi pale nō i 31 kaikamahine, a me ka hope paʻi i ka hopena o ka makahiki o ka noiʻi i loko o kekahi mau Kelemānia-'ōlelo paʻi puke. Eia naʻe, ma ia manawa i hou pathology i ole loaa ākea publicity, akā, ma hope o 20 makahiki ka mea, ua 'ike' ia ma ka 'āina' ilikai, a ua kapaia "Rett maʻi pale" i loko o ka hanohano o ka discoverer.

Mai laila, nä känaka 'epekema a puni ke ao nei, e hoʻopaʻa haʻawina no kaʻeleu maʻi a me kona etiology.

Ke kumu nui

Once ka pathology lawe ma ke kaʻawale maʻi, ua hoʻomaka poe akamai, e kau aku likeʻole theories o na kumu o kona ulu ana. Initially hilahila i ka maʻi mea okoa aaiaoe ano, i mea e'Āhewa'ōewe mutation. Deviations o keia ano ku i ke alo o ka helu nui o ke koko ano laulea i loko o ke kanaka me ka ohana.

Ma ka kekahi lima, ka mea, ua ua? Aaei chromosomal anomalies like me ka papa kuhikuhi kumu o ka maʻi. Mākou e kamaʻilio e pili ana i ke alo o ka hapa frangible o ka pōkole lima o ka X chromosome. ʻepekema paipai i keia mea i ka wahi kuleana no ka ho okumu ana o pathology.

Mahope noiʻi ma ke kumuhana i hōʻike i nā mea maʻi me ia iʻike, ua maoli loaʻa nō kekahi mau 'aʻe i loko o nā chromosomes. He kēia ololi o ka papa kuhikuhiE kumu o ka noʻonoʻo 'kāna hana, mea nōʻike.

Ka mea wale nō ka mea i kauoha aku e hookupaa like keia makahiki o ka hoʻomanawanui iki mai. E like me ke kauka, ka iniiaiie haunaele ma ka lolo ala mai, mai ka hanau ana o ke keiki, a ma ka makahiki 'ehā o kona olaʻana i ka hooulu ana mahana loa. Hoʻi, i kēia mau keiki ke ole hoʻomōhala piha, a ma ka hoʻoponopono pono.

Ka mua hoailona o Rett maʻi pale

Ma ka mahina loa mua o ke ola, i ke keiki nana pono ola, kauka pele i hoʻohuoiʻia o kekahi hemahema. Head anapuni o kekahi loko o ka normative kiko'î. Ka mea wale nō mea i i hōʻike maʻi, keia mea he nīnūnē Muscle flaccidity a me symptoms o hypotension. Ka hope hoʻi nā haʻahaʻa wela, pallor o ka ili a me ka excessive sweating handprints.

Kahi o 4-5 mahina, e lilo i nanaia na hoailona o ka lag i loko o ka ulu ana o kekahi mau Hawaii mākau (crawling, ape ma ka hoʻi). Ma hope, na keiki a me Rett maʻi pale loaʻa mea paakiki e noho, a ku.

Rett maʻi pale: symptoms

Kaawale ia mea e pono e kālele ana ma luna o ke kī symptoms, i diagnosed i ka maʻi. I ka 'inikua hana, he mau hihia kahi pololei oleʻike, e hoalaia ma muli o ka misinterpretation o ka hoailona o ka maʻi, i nā hualoaʻa ma kokololio make. He aha ka ano o Rett maʻi pale?

• I Kekahi Mau lima ka neʻe 'ana. Ma na keiki a me keiaʻike, i nā loko iʻa nā mākau paʻa nā mea i loko o kona mau lima. Ma keia hihia, eia repetitive noi, wehewehe aku ma ka ana shuffling o na manamana lima a me ka paʻipaʻi lima ma ka umauma pae. A keiki ke nahu mai i kou lima, a me ke pa ia oe iho i loko o nā wahi likeʻole o ke kino.
• Noʻonoʻo kūpono 'ana. I ka maʻi ua wehewehe aku ma ka noʻonoʻo retardation a me ka nele o cognitive haʻawina, i mea typical no nā pēpē. Kekahi keiki loaʻa iā iniiaiie nā mākau o ka olelo a me ka pokole o na mea e ae, akā, e ho'ōla lilo ia pau.
• Loa microcephaly. Aie i ka emi ma ka lolo nui i nā alai ulu aɃe.
• Ke kāʻili 'ana. Keʻano o Rett maʻi pale i manaoia epileptic ke kāʻili 'ana.
• ? Ac? Aaioea scoliosis. Abnormalities ma ka spinal Hoʻohana hou ma neia hope aku i loko o nā keiki i kēiaʻike. Ke kumu no ka curvature o ka hope o dystonia.

maʻi pale kahua o ka? acaeoey

Progresses, i ka maʻi, he eha ka papa kuhikuhi kahua o ka hoʻonaʻauao, kela mea keia mea o ka i mai he ano lapaʻau kiʻi.

• Ke kahua №1. Ka loiloi mua haiahū kūmau ma ka child kūpono 'ana e olelo aku i ka makahiki o ka eha mahina a hiki i kahi o elua makahiki. Ma nā mea maʻi me ka hoʻopaneʻe 'ia ana ka ulu ana o ke poo, he mea Muscle nawaliwali, lethargy a me ka nele o ka hoihoi i loko o ka puni honua.
• Ke kahua №2. Inā ke kamaiki ua aoia hoi, e hele mai i ka makahiki a olelo kekahi mau olelo, a pau kēia mau mākau i IeAUPIIe, IAa IO nalowale mai kekahi a hiki i elua makahiki. Ma kēia kahua loaʻa nō kekahi 'manipulation o nā lima, ha pilikia, hana maʻamau o ke ōhumu. keiki kekahi i ke kāʻili 'ana. Symptomatic lapaʻau o Rett maʻi pale ma kēia kahua koe inconclusive.
• Ke kahua №3. Ma waena o ekolu i eiwa makahiki ia mea hale lio. Ke kolu o ke kahua Ua wehewehe aku noʻonoʻo retardation, extrapyramidal kāna hana wā auou caiaiai twitching ", nanea ana" a me ka numbness.
• I Wa №4. Ma keia kahua o ka maʻi ua ana ike irreversible poino i ka autonomic'ōnaehana a me ka spine. Ma ka makahiki o ka umi nā mea maʻi e emi i ke alapine (frequency) o ka ho'āhewa wale, akā, pono luahohonu akamai o ke kuokoa Hotele. Ma keia wahi, na keiki ke kali no ka makahiki. I loko nō nui deviations ma physical kūpono 'ana, nā mea maʻi i piha puberty.

A pau o ka mea ma luna symptoms ke hooholo i ka ke kahua me ia mea Rett maʻi pale. Symptoms o ka maʻi oko i ka mämä holo o ka Holomua o ka maʻi a me kekahi mau kanaka hiʻona o ke kino.

Pehea e ike i ka pathology?

ʻike, o ka mea maʻi ua nānā 'ia e ka lapaʻau kiʻi malama. A hiki i ka hoʻohuoiʻia o kēia maʻi keiki i ana i hoouna aku ai i ka lako e ho'āʻo ma. Ua nā ikea ai moku'āina o ka lolo ma HI ana o kona bioelectric ha awina ma EEG a me ka ultrasound.

Ahulau, ka oi aku ma na kahua o ka hoʻonaʻauao kakahiaka o? Acaeoey, ua pinepine pioloke me ka autism. Eia naʻe, loaʻa nō i ka helu o nä mea i differentiate kēia mau loa okoa pathologies.

Ma ka mea mua mau mahina o ke ola, autistic keiki ua loaʻa nō ano hoailona o ka maʻi i hiki ole ke olelo mai no Rett maʻi pale. I ka autistic kāna hana, keiki pinepine, Kamuela i mau manipulations me ka puni mea, a i ka hoailona o ka lokomaikai. Rett maʻi pale ua loa pinepine ike i loko o nā keiki oolea i loko o kona neʻe no ka Hawaii a me ka muscular kāna hana. Eia hoʻi, ka mea, ua pu e hooloihi ae i epileptic kāʻili 'ana, deceleration o ka poo ka ulu a me ka pilikia hanu. Ke'ī mai, ka mea 'eleu hana palena pauʻike, pololei ho oholo i ka walaʻauʻana ano o ka maʻi, e like me ka pono me kūpono lapaau a me ka hoʻopulapula ana.

lāʻau Inc

Hoikehonua, ano o ka hana maikaʻi i ka maʻi, ua Eia naʻe kaupalena '. A ki 'āpana o ke Inc - mama symptomatic hoike ana mai o ka maʻi a me ka noʻonoʻo i ke ano o ka hoʻomanawanui iki mai ui ka hoʻohana' ana ai '. He aha lapaʻauʻia i hoakaka ia no na keiki me kaʻike, o "Rett maʻi pale"? Iapaau ana IeAUPIIe, IAa IO maupaʻa:

1. ? Eaia anticonvulsants ka paleʻana epilepsy.
2. Ka hoʻohana o "Melatonin" no ka rula liluwelo pololei o ka lā / po o ka.
3. Ka hoʻohanaʻana i ai ', e hoʻoikaika' ana i ke koko holo a me ka stimulation o ka lolo.

Inā kāʻili 'recur me ka alapine (frequency), anticonvulsants ka hoʻokōʻana i e haʻahaʻa. Nō kāu, na keiki a me keia maʻi i hoakaka ia "carbamazepine". Keia mea paahana Ua hoʻolaha like anticonvulsants ikaika.

Ma ia laua, IeAUPIIe, IAa IO hoakaka "lamotrigine". Kēia hana kŘpa a nei iʻikeʻia i loko o pharmacology. Ka mea, ua ālai 'ka anal o ka monosodium ka paʻakai i loko o ka CNS. ʻepekema, Ua loaʻa hoʻi iaʻu ma mahuahua ka maʻiʻo o ka waiwai i loko o cerebrospinal loli o nā mea maʻi a me kaʻike, a "Rett ka maʻi pale". Nā kumu no kēia kŰia mea nō IKE OLE IA.

kuʻuna therapies

Ma waho aʻeo i ka lāʻau lapaʻau, kauka waiho aku he kupaianahaʻai. Ua ua i ma luna o kekahi kanaka iki iloko no ke kaupaonaʻana o koʻu pomaikai ia. Keʻai E e waiwai ma ka puluniu, nā wikamina a me'aiaola huahana. Kēia pono pinepine ai ana (o kela mea keia mea ekolu hora paha). Ia ai ka poʻea pau i ka noaaeeecaoee o ka hoʻomanawanui iki mai.

Ka iapaau ana i ka loaʻa o ka lomilomi a me kuikawā kino. Oia kau physical hana he hoʻonui i ke kūpono 'ana o ke keiki lala, hoomahuahua i ke kohoʻia o nā kino wahi, e like me hoʻoulu Muscle leo.

Mau loea, e hoailona oukou i ka puolo loaʻa pono ia ma luna o nā keiki i kēia maʻi. UaʻAʻole wale soothes, akā, i stimulates hoihoi i loko o ka honua a puni ia.

Rett maʻi pale i na keiki i keia la i malamaia lakou ma ka hana kūikawā hoʻopulapula-oaio? A. Ka mea, ua loaʻa i loko o aneane nui na kulanakauhale a pau. Here,'ōpiopio nā mea maʻi ke hakuloli i ke ao nei a puni ia, e hoopaa kuikawa hoʻonaʻauao papa.

Time]

E hāʻawi i nā pono lapaʻau, nä känaka 'epekema mai a puni ka honua hoʻomau i ka' Imi makaikai i Rett maʻi pale. Forecast hoʻomalu i loko o kēia nīnau i loko o ka affirmative. Ma ka manawa, ulu kūikawā kumu keena, ma ka mea o ka i hiki hope e lanakila keia maʻi weliweli. No hoi, e like me "lapaʻau" Ua mua ua ana hoao ma keʻena hoʻokolohuaʻiole.

Ma kēia 'atikala, i haʻiʻia mākou i ka mea Rett maʻi pale. Photos o na keiki me ka hiki ke ke loaʻa ma ka hana kūikawā 'inikua pili puke. Kēia mea he nui loa pohihihi keia maʻi, a uaʻano nui diagnosed i kaikamahine. Inā mākou e like me ka noʻonoʻo retardation, i kēia maʻi pale i loko o ka mua mau mahina o ke ola ua i hoikeia aku ai e mawaho hoailona. I nā malamaʻeono, eia nā pilikia me psychomotor ulu, keikikao nalowale a pau na nā mākau a me ka loa, aole i pane i ka puniʻike manaʻo a me nä mea. Me ka lapaʻau kiʻi loaʻa ino ma manawa. Eia naʻe, i kēia maʻi hiki ole ke eo definitively. Hoikehonua, lapaau e kaumaha ana i kaʻano o ka lapaʻauʻia, e emi symptoms o ka maʻi. Eia hou kekahi, he pono hopena ma luna o ke keiki ka ola physiotherapy (kino, massages), aʻo ma ka hana kūikawā hoʻopulapula-oaio? A, a Ho 'Oponopono.

Mākou manaʻolana i nā mea a pau i ka hoakaka 'ike i loko o kēia' atikala i ka kumuhana makemake e ai no oe i nae e maikaʻi kēia. E hoʻokaʻaʻike ola!