Ese hari igihe ugira ikibazo cyangwa impungenge ku mikurire y'umwana wawe cyangwa imyitwarire ye? Hari igihe dutinya iyo abaganga bavuze amagambo mashya n'indwara, si byo se? Uyu munsi tugiye kuvuga ku ndwara idakunze kugaragara mu buryo bw'uturemangingo ushobora kuba utari warigeze wumva, ariko ikaba ari ingenzi cyane kuyimenya. Yitwa Pitt-Hopkins Syndrome (PTHS).
Mu by'ukuri indwara ya Pitt-Hopkins Syndrome (PTHS) ni iki?
Mu magambo make, iyi ni
indwara iterwa n’uturemangingo . Ni ukuvuga ko iterwa n’impinduka mu turemangingo mu mubiri wacu, nk’amabwiriza mato agenga buri kintu cyose mu mubiri wacu. Ibi bigira ingaruka cyane cyane
ku mikurire y’ubwonko bw’umwana n’imitsi . Kubera iyo mpamvu, imikurire rusange y’umwana ishobora gutinda, ubumuga bwo mu mutwe bushobora kugaragara. Byongeye kandi, aba bana bashobora no kugira
impinduka zimwe na zimwe mu miterere y’isura yabo . Bashobora kandi guhura n’ibibazo nko
guhumeka nabi no gucika intege .
Ese iki ni kimwe mu bigize indwara ya autisme?
Abantu benshi bashobora gutekereza ko iyi ari indwara isa n’indwara ya autism spectrum. Pitt-Hopkins syndrome
ntabwo ari autism mu by’ukuri . Ariko, abana bafite iyi ndwara bashobora kugaragaza
ibimenyetso bimwe n’iby’abana bafite autism. Kubwibyo, rimwe na rimwe ababyeyi n’abaganga bashobora kwitiranya gato. Ariko tugomba kumva ko izi ari indwara ebyiri zitandukanye.
Ni nde urwara iyi ndwara? Ni ku rugero rungana iki?
Indwara ya Pitt-Hopkins (PTHS)
ishobora gufata umuntu uwo ari we wese . Ibimenyetso bikunze kugaragara
mu bwana . Ariko, ikintu cy'ingenzi ugomba kumenya ni uko iyi ari
indwara idakunze kugaragara mu buryo bw'uturemangingo . Tekereza gato,
abantu bagera kuri 500 gusa ku isi yose ni bo basanzwe bafite iyi ndwara. Rero, iyi ni indwara idakunze kugaragara.
Ibi bizagira ingaruka zite ku mwana wanjye?
Uretse ibimenyetso by'umubiri, umwana ufite iyi ndwara ashobora kugira izindi ngaruka nyinshi. By'ingenzi:
- Gutinda mu mikurire: Abana bashobora gutinda gukora ibintu bijyanye n'imyaka yabo, nko kwizunguruka, kwicara no kugenda. Ese wumva umwana wawe atinda kumwenyura, kuvuga urusaku, cyangwa kumenya nyina nk'abandi bana? Ibi byitwa gutinda mu mikurire.
- Kudashobora kuvuga cyangwa iterambere ry'ururimi rike: Abana bamwe bashobora kuba badashobora kuvuga amagambo, cyangwa bakaba bafite amagambo make cyane. Bashobora kuba babasha kuvuga amajwi gusa.
- Ubumuga mu mutwe: Hashobora kubaho ubumuga mu bushobozi bwo gusobanukirwa no kwiga. Bishobora gusa nkaho bifata igihe kugira ngo umuntu yige ikintu gishya.
- Ubumenyi buke mu mibanire n'abandi : Hashobora kubaho kugabanuka k'ubushake n'ubushobozi bwo gukina no kuganira n'abandi. Bashobora kandi kugaragaza ko bakunda kuba bonyine.
Ni ibihe bimenyetso by'indwara ya Pitt-Hopkins (PTHS)?
Nkuko byavuzwe mbere, iyi ndwara igira ingaruka ku mikurire y'umwana. Ibimenyetso by'ingenzi
ni ugutinda kwiga kugenda ,
kugorwa no kuvuga no kuvugana . Byongeye kandi, abana barwaye Pitt-Hopkins syndrome bashobora kugira
impinduka zihariye mu maso habo . Ibi bivuze ko zimwe mu myitwarire yabo mu maso zishobora kuba zitandukanye gato n'iz'abandi bana. Urugero, bashobora kuba bafite umunwa mugari, iminwa ikomeye, amazuru arambuye, n'amaso akomeye. Bashobora kandi kugira:
- Kwituma : Kwituma impatwe bishobora kubaho kenshi. Menya ibi niba umwana wawe akunze kumva afite ikibazo cyo kwituma impatwe.
- Igicuri : Ibi bivuze kugira isereri . Bishobora gutera gutitira no guta ubwenge.
- Intege nke z'imitsi (Hypotonia): Imitsi iragabanuka, umubiri ukumva nta buzima ufite. Umubiri w'umwana ushobora kumva urembye cyane.
- Kugira umutwe muto (Microcephaly): Umutwe ushobora kuba muto kurusha uko usanzwe ukurikije imyaka yawo.
- Myopia (kureba hafi): Nubwo ushobora kubona ibintu biri hafi, ushobora kutabona neza ibintu biri kure.
- Strabismus (amaso afatanye): Amaso ntashobora kwerekeza mu cyerekezo kimwe, kandi ijisho rimwe rishobora kwerekeza imbere cyangwa inyuma.
- Kugorwa no guhumeka n'ibibazo byo guhumeka: Hari igihe ushobora kugira ibihe byo guhumeka cyangwa guhumeka vuba (hyperventilation) . Ibi bishobora kubaho usinziriye cyangwa ukangutse.
Impamvu y'iki kibazo ni iyihe?
Impamvu nyamukuru ibi ni
impinduka mu ngirabuzimafatizo ya TCF4.Iyi gene ya TCF4 igenzura poroteyine ubwonko bwawe n'imitsi bikeneye kugira ngo bikure. Rero, niba hari inenge muri iyi gene, igira ingaruka ku mikurire y'umwana. Noneho ushobora kuba wibaza niba iki ari ikintu gituruka ku babyeyi. Dore uko bigenda,
- Hari igihe, iyo umwe mu babyeyi afite iyi gene mutation , hari amahirwe angana na 50% ko umwana ashobora kugira iyi ndwara. Ibi byitwa autosomal dominant pattern .
- Ariko, nubwo ababyeyi bombi badafite iyi mihindagurikire y’uturemangingo , umwana ashobora kuyigira. Ni ukuvuga ko ishobora kubaho nta mateka y’umuryango. Ibi byitwa de novo occurrence . Rero, iki si ikintu umuntu wese ashobora kwirinda. Si ikosa ryawe, cyangwa ngo ni ikindi kintu.
Abaganga babimenya bate?
Iyo umwana wawe avutse, wowe na muganga wawe mushobora kubona
impinduka zimwe na zimwe mu miterere ye . Cyangwa, uko umwana wawe akura, muganga wawe ashobora kubona ibimenyetso bya Pitt-Hopkins syndrome mu gihe
cyo gusura umwana ukiri muzima cyangwa gusura umwana ukiri muzima . Hanyuma bashobora gutegeka ko hakorwa
ibizamini byihariye kugira ngo bemeze iyo ndwara.
Ni ibihe bizamini bikorwa kugira ngo byemezwe?
Muganga wawe ashobora kukugira inama
yo gupima umwana wawe mu maraso . Ibi bikubiyemo gufata
icyitegererezo cy'amaraso cyangwa
ADN mu gikoresho cyo gupima (icyitegererezo cy'uturemangingo twakuwe imbere mu musaya). Hanyuma inzobere mu by'imiterere y'umubiri izasuzuma icyitegererezo kugira ngo irebe niba hari
impinduka mu ngirabuzimafatizo ya TCF4 .
Niba umwana wawe afite indwara nk'indwara yo gucika intege, muganga wawe ashobora no gutumiza ibizamini nka:
- Ikizamini cya EEG (Electroencephalogram): Iki gipima imikorere y'amashanyarazi y'ubwonko. Kimwe na ECG y'umutima, gishobora gutanga igitekerezo cy'imikorere y'ubwonko.
- Isuzuma rya MRI (Magnetic Resonance Imaging): Iri suzuma rifata amafoto y'ubwonko kugira ngo harebwe niba hari impinduka.
Ni ubuhe buryo bwo kuvura ibi?
Ikibabaje ni
uko nta muti uhari wa Pitt-Hopkins Syndrome (PTHS). Ariko,
ibimenyetso by'iyi ndwara bishobora kuvurwa . Ibi bivuze ko dushobora kugabanya ububabare umwana wawe agira no koroshya ubuzima bwe. Ushobora kuvugana na muganga wawe kugira ngo urebe niba umwana wawe akeneye serivisi z'izi nzobere:
- Inzobere mu ndwara zo mu gifu: Ku bibazo nko kutagira impatwe.
- Inzobere mu ndwara z'imitsi: Ku bintu nk'ibicurane n'intege nke z'imitsi.
- Inzobere mu by'amaso: Ku bibazo byo kutabona.
- Inzobere mu ndwara z'imitsi: Ku bibazo byo guhumeka.
Itsinda ry'abaganga b'umwana wawe rizakorana kugira ngo bategure
gahunda y'ubuvuzi ijyanye n'ibimenyetso by'umwana wawe . Ibi bivuze kuvura impatwe, ibibazo byo kutabona, n'ibibazo byo guhumeka ukwabyo. Ibimenyetso by'umwana wawe bishobora guhinduka uko igihe kigenda gihita, bityo ushobora gukenera
kubonana na muganga wawe kenshi no guhindura uburyo uvura . Ntugahangayike, ibi byose ni uguha umwana wawe ubuzima bwiza bushoboka.
Ese indwara ya Pitt-Hopkins Syndrome (PTHS) ishobora kwirindwa?
Kubera ko ibi
biterwa n’impinduka mu miterere y’uturemangingo , nta kintu na kimwe wakora kugira ngo wirinde iyi mpinduka. Ariko,
niba wowe, umukunzi wawe, cyangwa undi muntu wo mu muryango wawe afite iyi ndwara y’uturemangingo, cyangwa niba ufite amateka ya Pitt-Hopkins syndrome , ni ngombwa cyane kuvugana na muganga.
Namenya nte ko umwana wanjye ashobora kugira ibyago byo kurwara iyi ndwara?
Niba utwite umwana, kandi wowe cyangwa umukunzi wawe mukaba mufite amateka y'indwara z'uturemangingo mu muryango wanyu, vugana na muganga wawe ku birebana
n'ubujyanama mbere yo gutwita . Bishobora kugufasha cyane. Umujyanama mu by'uturemangingo ashobora kukubwira byinshi kuri ibi.
Niba umwana wanjye afite indwara ya Pitt-Hopkins, ni iki nakwitega?
Abana barwaye Pitt-Hopkins syndrome bakunze gukenera
ubuvuzi bwihariye n'ubufasha bwo kwigisha . Muganga wawe ashobora kukugira inama y'ibintu nk'ibi:
- Ubuvuzi bw'akazi: Bufasha mu mirimo ya buri munsi, gukina, no kwiyitaho. Aba bantu bafasha mu bintu nko kurya no kwambara.
- Ubuvuzi bw'umubiri: Bufasha mu kugenda, kuringaniza imitsi no gukomera kw'imitsi. Ibi ni ingenzi mu kubaka imbaraga z'umubiri w'umwana.
- Ubuvuzi bwo kuvuga: Bugufasha kuvuga, kumva ibyo abandi bavuga, no kuvugana. Nubwo udafite amagambo, ushobora kwigishwa kwisobanura mu bundi buryo.
Imyaka yo kubaho y'aba bana ni iyihe? (Ibisobanuro)
Ubuzima bw'abana barwaye Pitt-Hopkins bushobora gutandukana . Hari abana
babaho kugeza bakuze . Ni byiza kubaza muganga wawe uburyo wafasha umwana wawe kugira ubuzima bwiza. Buri mwana aratandukanye, bityo urugendo rwa buri wese ruratandukanye.
Ni gute nakwita ku mwana wanjye urwaye indwara ya Pitt-Hopkins?
Vugana na muganga w'umwana wawe ku bijyanye
n'ubuzima bwe n'ibyo akeneye mu burezi . Uburyo bumwe bwo kuvura, cyangwa
Ibikoresho byo kongera ubushobozi bwo kwigisha no gukwirakwiza amakuru (AAC) bishobora gufasha umwana wawe kuvugana n'abandi. Muganga wawe ashobora kandi kukubwira ibijyanye na gahunda z'uburezi bwite (IEPs) n'izindi mfashanyigisho zishobora gufasha umwana wawe. Hari uburyo bwihariye bwo kwigisha abana bafite ubwo bumuga, bityo rero reba. Ni ryari umwana wanjye agomba kujya kwa muganga?
Ni ngombwa kujyana umwana wawe kwa muganga buri gihe no gukurikirana ubuzima bwe . Baza muganga wawe inshuro agomba kubonana n'inzobere. Nanone, bwira muganga wawe ako kanya niba umwana wawe agaragaje ibimenyetso bishya . Ni byiza kubibwira muganga wawe niba umwana wawe afite umuriro cyangwa arimo kwitwara mu buryo butandukanye n'uko bisanzwe. Ni gute indwara ya Pitt-Hopkins igira ingaruka ku myitwarire y'umwana?
Igishimishije ni uko abana benshi barwaye Pitt-Hopkins syndrome bishimye cyane kandi basabana n'abandi . Bashobora guseka cyane, bagaseka cyane, rimwe na rimwe bakabikora nta mpamvu. Ushobora kubabona bakubita amaboko yabo bahinda umushyitsi . Ibi byose ni bimwe mu bigize iyo ndwara. Bashobora kubasanga bishimye kandi batuje. Ariko, hari abana bashobora no guhangayika cyangwa kugira isoni . Niba ufite impungenge ku mpinduka mu myitwarire y'umwana wawe, vugana na muganga wawe. Nk'umubyeyi mushya, ushobora kumva ufite ubwoba bwinshi no gutungurwa iyo umenye ko umwana wawe afite indwara idakunze kugaragara nk'indwara ya Pitt-Hopkins. Ibyo ni ibisanzwe cyane. Ariko, ibuka ko hamwe n'ubuvuzi bw'inzobere n'ubuvuzi, umwana wawe ashobora kubaho ubuzima bwiza .
Muganga wawe ashobora kandi kukwohereza ku mujyanama mu by’uturemangingo . Ni inzobere mu by’uturemangingo. Bashobora kugufasha kumva umerewe neza, bakagufasha gusobanukirwa indwara, kandi bakakuyobora ku byo wakora kugira ngo ufashe umwana wawe kubaho ubuzima bwiza kandi bushimishije . Wibuke ko utari wenyine muri uru rugendo. Ibintu by'ingenzi cyane ugomba kwibuka
Turizera ko ubu ufite ubumenyi ku ndwara ya Pitt-Hopkins Syndrome (PTHS) nk'uko twabiganiriyeho. Nubwo iyi ari indwara idakunze kugaragara, ni ngombwa cyane kuyimenya.- PTHS ni indwara iterwa n'impinduka mu ngirabuzimafatizo ya TCF4. Ibi bigira ingaruka ku mikurire y'ubwonko n'imitsi.
- Ibimenyetso biratandukanye. Gutinda mu mikurire, ingorane zo kuvuga, impinduka mu maso, gucika intege, n'ibibazo byo guhumeka ni byo by'ingenzi.
- Ibi si autisme, ariko bimwe mu bimenyetso bishobora kuba bisa.
- Nubwo nta muti wuzuye uhari, ibimenyetso biravurwa. Uburyo butandukanye bwo kuvura n'ubufasha bw'abaganga b'inzobere burahari.
- Kumenya umwana hakiri kare no kumucunga neza bigira uruhare runini mu kunoza ubuzima bwe.
- Ntabwo uri wenyine. Abaganga, abavuzi, n'abajyanama biteguye kugufasha wowe n'umwana wawe. Ntutinye kubasaba ubufasha.
- Buri mwana ni umwihariko. Abana bafite PTSD bafite impano zabo bwite n'uburyo bwabo bwo kwishima. Ikintu cy'ingenzi ni ukubagaragariza urukundo, ubwitonzi, no kubashyigikira bikwiye.
Indwara ya Pitt-Hopkins, PTHS, indwara z’uturemangingo, gene ya TCF4, gutinda mu mikurire, ubumuga bwo mu mutwe, ibicurane, ubuzima bw’umwana, ubujyanama ku gene
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