Angelman Syndrome ni iki? Ibimenyetso, Intandaro, n'Ubuvuzi

Angelman Syndrome ni indwara idasanzwe y'impyiko iterwa n'ikibazo mu miterere y'impyiko, itera ubumuga bwo mu mutwe n'ibibazo byo kugenda no kubungabunga umubiri. Iyi ndwara ibaho iyo hari ikibazo mu gene yitwa UBE3A, igira uruhare mu mikorere y'ubwonko.

Abantu bagera kuri umwe kuri 12.000 kugeza kuri 20.000 bavukana Angelman Syndrome. Nubwo ari indwara yo mu buzima bwose, itera ibibazo bitandukanye, imiryango myinshi ishobora gufasha abantu bakunda kugira ubuzima bwiza, bafashwe neza kandi bagafashwa.

Ibimenyetso bya Angelman Syndrome ni ibihe?

Ibimenyetso bya Angelman Syndrome bigaragara mu mwaka wa mbere w'ubuzima bw'umwana, nubwo bimwe bishobora kugaragara nyuma gato. Ibi bimenyetso bigira ingaruka ku iterambere ry'umwana, uburyo agenda, n'uburyo avugana.

Dore ibimenyetso bisanzwe ushobora kubona:

• Gutinda kw'iterambere ryo kwicara, kwisiga, no kugenda
• Kuvuga gake cyangwa kutavuga na gato, nubwo gusobanukirwa kenshi kuba kuruta ubushobozi bwo kuvuga
• Kwenga kenshi no guseka, rimwe na rimwe nta mpamvu igaragara
• Gukubita intoki, cyane cyane iyo bishimye
• Ibibazo byo kugenda, birimo kugenda gukakaye cyangwa guhindagurika
• Imihindagurikire, igira ingaruka ku bantu bagera kuri 80% bafite iyi ndwara
• Ibibazo byo kuryama no gusinzira igihe gito ugereranyije n'abantu basanzwe
• Gukunda amazi no gukunda ibintu byoroshye nka pulasitike

Ibimenyetso bitagira umumaro bishobora kuba harimo umutwe muto, ururimi rurerure, gucika intege, n'ibibazo byo kurya mu buto. Bamwe mu bana barwara scoliosis cyangwa bagira ibibazo by'amaso nko guhindagurika kw'amaso.

Icy'ingenzi ni uko buri muntu ufite Angelman Syndrome ari umwihariko. Nubwo ibi bimenyetso ari ibisanzwe, umwana wawe ashobora kugira bimwe kurusha ibindi, kandi uburemere bwabyo bushobora gutandukana cyane ukurikije umuntu.

Ni iki giterwa na Angelman Syndrome?

Angelman Syndrome iterwa n'ibibazo kuri gene UBE3A, iherereye kuri chromosome 15. Iyi gene igomba gukora poroteyine ifasha ubwonko gukora neza, cyane cyane mu bice bigengwa n'ubumenyi, kuvuga, no kugenda.

Iyi ndwara ishobora kubaho mu buryo butandukanye:

• Gusiba chromosome 15 y'umubyeyi (biterwa na 70% by'ibibazo)
• Guhinduka kwa gene UBE3A (hagati ya 11% by'ibibazo)
• Ibibazo byo gukora gene, aho gene iba 'yaciwe' nabi (hagati ya 3% by'ibibazo)
• Uniparental disomy ya se, aho kopi zombi za chromosome 15 zikomoka kuri se aho kuba imwe ikomoka kuri buri mubyeyi (hagati ya 7% by'ibibazo)

Mu bihe byinshi, Angelman Syndrome ibaho ku bwinshi mu gihe cyo gukora uturemangingo tw'imyororokere cyangwa mu ntangiriro y'iterambere ry'umwana. Ibi bivuze ko akenshi bitavuka mu babyeyi, kandi nta kintu wakora kugira ngo ubyirinde.

Ariko kandi, mu bihe bidafite umumaro aho hari impinduka mu miterere ya chromosome mu mubyeyi umwe, hashobora kubaho amahirwe make yo kubyara undi mwana ufite iyi ndwara. Umujyanama wawe mu by'impyiko ashobora kukuyobora.

Ugomba kubona muganga igihe ki ku bijyanye na Angelman Syndrome?

Ugomba kuvugana na muganga wawe niba ubona umwana wawe afite ubusembwa bukomeye mu iterambere rye. Ibimenyetso by'intangiriro bikwiye gusaba urugendo kwa muganga birimo kutakicara ku mezi 12, kudagenda ku mezi 18, cyangwa kutavuga cyangwa kuvuga gake cyane ku myaka 2.

Ibindi mpamvu z'ingenzi zo gushaka ubuvuzi harimo imihindagurikire ikunda kubaho, ibibazo bikomeye byo kuryama, cyangwa niba umwana wawe agaragaza ibimenyetso by'ubuhanga bwo gutinda kw'iterambere hamwe no guseka kenshi no gukubita intoki. Rimwe na rimwe ababyeyi babona ko umwana wabo asobanukirwa byinshi kurusha uko ashobora kubivuga, ibyo ni ikindi kimenyetso cy'iyi ndwara.

Ntugatege amatwi niba uhangayikishijwe n'iterambere ry'umwana wawe. Serivisi zo gutabara hakiri kare zishobora kugira uruhare rukomeye mu gufasha umwana wawe kugera ku bushobozi bwe, mbere y'uko ubona ubuvuzi bwuzuye.

Ni ibihe bintu byongera ibyago bya Angelman Syndrome?

Ibihe byinshi bya Angelman Syndrome bibaho ku bwinshi, bivuze ko nta bintu byihariye byongera ibyago byo kubyara umwana ufite iyi ndwara. Iyi ndwara igira ingaruka ku matsinda y'abantu bose kandi ibaho ku bahungu n'abakobwa ku rugero rumwe.

Kuba umubyeyi mukuru ntabwo ari ikintu cyongera ibyago bya Angelman Syndrome, bitandukanye n'izindi ndwara ziterwa n'impyiko. Mu muryango munini, nta mateka y'iyi ndwara, kandi ababyeyi bafite chromosome zisanzwe.

Uburyo bumwe gusa aho ibyago bishobora kuba byinshi ni uko umubyeyi umwe afite impinduka mu miterere ya chromosome isanzwe irimo chromosome 15. Ibi ni bito cyane kandi bishobora kugaragara gusa binyuze mu isuzuma ry'impyiko nyuma yo kubyara umwana ufite Angelman Syndrome.

Ni ibihe bibazo bishobora kubaho muri Angelman Syndrome?

Nubwo Angelman Syndrome ari indwara yo mu buzima bwose, gusobanukirwa ibibazo bishobora kubaho bishobora kugufasha kwitegura no gushaka ubuvuzi bukwiye igihe bikenewe. Ibyinshi muri ibi bibazo bishobora gufatwa neza hamwe n'ubufasha bw'abaganga.

Ibibazo bisanzwe birimo:

• Imihindagurikire, ishobora kuba kuva ku ntangiriro kugeza ku ikomeye kandi ishobora gusaba imiti ikomeza
• Ibibazo byo kurya mu buto, rimwe na rimwe bisaba uburyo bwihariye bwo kurya
• Ibibazo byo kuryama, birimo kugira ibibazo byo gusinzira no kubyuka kenshi nijoro
• Scoliosis (umugongo uhindagurika), bishobora gusaba gukurikirana cyangwa kuvurwa
• Impatwe, akenshi isaba impinduka mu mirire cyangwa imiti
• Guhora udasiba n'ibibazo byo kwitabira

Ibibazo bitagira umumaro bishobora kuba harimo ibibazo by'amaso nko guhindagurika kw'amaso, ibibazo by'amenyo, kandi mu bihe bimwe na bimwe, ibibazo byo kugenzura ubushyuhe bw'umubiri. Bamwe mu bantu bashobora kugira gastroesophageal reflux, ishobora kugira ingaruka ku kurya no kumva ubuzima bwiza.

Inkuru nziza ni uko abantu benshi bafite Angelman Syndrome babaho igihe kirekire. Hamwe n'ubuvuzi bukwiye n'ubufasha, ibibazo byinshi bishobora gufatwa neza, bituma abantu babaho ubuzima bwiza, bujyanye n'imiryango yabo n'abaturanyi babo.

Angelman Syndrome ipima ite?

Kumenya Angelman Syndrome bisanzwe bikubiyemo isuzuma ry'impyiko, ariko uburyo busanzwe butangira muganga akurikirana iterambere ry'umwana wawe n'ibimenyetso. Nta kizami kimwe gishobora guhita kimenya iyi ndwara, bityo akenshi bisaba guhuza isuzuma ry'abaganga n'isuzuma ryihariye.

Muganga wawe azabanza gukora isuzuma ry'umubiri ryuzuye no kureba amateka y'iterambere ry'umwana wawe. Azareba ibimenyetso byihariye nko gutinda kw'iterambere, ibibazo byo kugenda, n'imico isanzwe yo kwishima no guseka kenshi.

Isuzuma ry'impyiko risanzwe ririmo:

1. Isuzuma rya methylation ya ADN, rishobora kumenya hagati ya 80% by'ibibazo
2. Isuzuma rya chromosomal microarray kugira ngo harebwe gusiba
3. Isuzuma rya gene UBE3A niba ibindi bisuzumwa ari ibisanzwe ariko ibimenyetso bigaragaza iyi ndwara
4. Ibindi bisuzumwa byihariye mu bihe bimwe na bimwe

Kumenya iyi ndwara bishobora gutwara igihe, kandi ushobora kuba ukeneye kubona abaganga benshi barimo abaganga b'impyiko, abaganga b'ubwonko, n'abaganga b'abana b'abana. Ubu buryo bushobora kuba bugoye, ariko buri ntambwe ifasha kubona ishusho isobanutse y'ibyo umwana wawe akeneye.

Ubuvuzi bwa Angelman Syndrome ni buhe?

Nubwo nta muti wa Angelman Syndrome, hari ubuvuzi n'uburyo bwinshi bishobora kunoza ubuzima no gufasha abantu kugera ku bushobozi bwabo. Ubuvuzi bugamije gufata ibimenyetso no gushyigikira iterambere mu bice byinshi.

Uburyo nyamukuru bw'ubuvuzi burimo:

• Ubuvuzi bw'umubiri kugira ngo kunoze imbaraga, kubungabunga umubiri, no kugenda
• Ubuvuzi bw'imirimo kugira ngo kunoze ubumenyi bw'ubuzima bwa buri munsi
• Ubuvuzi bw'amagambo n'ubufasha mu itumanaho, akenshi bikubiyemo uburyo butandukanye bwo gutumanaho
• Imiti yo kurwanya imihindagurikire niba hari imihindagurikire
• Imiti yo kuryama cyangwa uburyo bwo kwifata ku bibazo byo kuryama
• Ubufasha mu burezi n'ibikorwa by'uburezi byihariye

Imiryango myinshi isanga ubuvuzi bw'imyitwarire ari ingirakamaro mu gufata ibibazo byo guhora udasiba n'ibibazo byo kwitabira. Bamwe mu bantu bagira akamaro mu bikoresho byo gufasha kugenda, kandi mu bihe bya scoliosis ikomeye, kuvurwa kw'abaganga bishobora gusabwa.

Icy'ingenzi ni ugukorana n'itsinda ry'abaganga bamenye Angelman Syndrome. Ibi bishobora kuba harimo abaganga b'ubwonko, abaganga b'abana, abaganga b'umubiri, abaganga b'amagambo, n'abahanga mu burezi bashobora gukora gahunda yuzuye y'ubuvuzi ihuye n'ibyo umuntu akeneye.

Uburyo bwo kwita ku muntu murugo?

Kurema ibidukikije byiza murugo bishobora kugira uruhare rukomeye mu mibereho y'umuntu ukunda n'iterambere rye. Imiryango myinshi ikora gahunda n'ingamba zikora neza ku mimerere yabo.

Dore uburyo busanzwe bufasha:

• Gushyiraho gahunda ya buri munsi, cyane cyane ku ifunguro n'igihe cyo kuryama
• Gukoresha gahunda ziboneka n'amakarita yo gutumanaho kugira ngo bifashe gusobanukirwa
• Kurema ahantu heza ho gushakisha, kuko abantu benshi bakunda amazi n'ibintu bito
• Gutanga ubunararibonye bw'imyumvire bakunda, nka muzika, ibintu byoroshye, cyangwa kugenda gake
• Gukora ku bumenyi bworoheje bwo gutumanaho mu bikorwa bya buri munsi
• Gushishikariza imyitozo ngororamubiri ihuye n'uburyo bagenda

Kuryama bishobora kuba bigoye cyane, bityo imiryango myinshi irabona intsinzi mu mapaji y'umwijima, urusaku rw'umweru, n'ibikorwa byo kuryama buri gihe. Bamwe mu bantu bafite Angelman Syndrome barunguka kandi mu mapaji aremereye cyangwa ibindi bikoresho byoroshye.

Wibuke ko buri ntambwe ntoya itera imbere ifite agaciro. Kwishimira ibyagezweho, uko byaba bito kose, bifasha kurema ibidukikije byiza bishyigikira gukomeza gukura no kwishima.

Ugomba kwitegura gute kugira ngo ujye kwa muganga?

Kwitegura kujya kwa muganga bishobora kugufasha gukoresha neza igihe cyawe n'abaganga kandi bikwemerera kubona amakuru n'ubufasha ukeneye. Kwitegura neza bishobora kandi kugabanya umunaniro kuri wowe n'umuntu ukunda.

Mbere yo kujya kwa muganga, kora amakuru y'ingenzi nka lisiti y'imiti ukoresha, impinduka zihariye mu bimenyetso cyangwa imyitwarire, n'ibibazo ushaka kubabaza. Komereza kuzana ibitabo by'imihindagurikire, imikorere yo kuryama, cyangwa ibindi bimenyetso bibangamira niba ari ibibazo bikomeza.

Teganya kuzana:

• Lisiti y'ubuvuzi n'imiti ukoresha
• Amashusho aheruka y'imyitwarire cyangwa ibimenyetso bibangamira
• Raporo zo kwiga cyangwa inyandiko z'iterambere ry'ubuvuzi
• Lisiti y'ibibazo byateguwe ukurikije akamaro
• Umuntu w'umuryango cyangwa inshuti yizewe kugira ngo aguhe ubufasha

Mu gihe cyo kujya kwa muganga, ntutinye gusaba ko basobanura niba amagambo y'abaganga ari amagambo akomeye. Abaganga benshi bishimira iyo imiryango ije yiteguye kandi ikora mu buryo bwo kuvura.

Icy'ingenzi kuri Angelman Syndrome ni iki?

Angelman Syndrome ni indwara ikomeye y'impyiko igira ingaruka ku iterambere kandi isaba ubufasha buhoraho, ariko ni ingenzi kwibuka ko abantu bafite iyi ndwara bashobora kubaho ubuzima bwiza, bujyanye n'ibyishimo. Kwishima no kuba inshuti kw'abantu benshi bafite Angelman Syndrome akenshi bitera ibyishimo bitateganijwe mu miryango n'abaturanyi.

Nubwo kumenya iyi ndwara bishobora kuba bigoye mu ntangiriro, guhuza n'andi miryango, amakipe y'abaganga, n'imiryango ishyigikira bishobora gutanga ubuyobozi n'icyizere. Gutabara hakiri kare n'ubuvuzi buhoraho bishobora kugira uruhare rukomeye mu gufasha abantu bafite Angelman Syndrome kunoza ubushobozi bwabo no gutanga ibyo bakeneye.

Icy'ingenzi ni ukwita ku mbaraga zihariye z'umuntu ukunda no kwishimira ibyagezweho, uko byaba bito kose. Hamwe n'ubufasha bukwiye, ubuvuzi, n'ibidukikije byiza, abantu bafite Angelman Syndrome bashobora kugira ubuzima bwiza, bujyanye n'ibyishimo n'ubumwe.

Ibibazo bikunze kubazwa kuri Angelman Syndrome

Umwanamfura wanjye ufite Angelman Syndrome azashobora kugenda?

Abana benshi bafite Angelman Syndrome biga kugenda, nubwo bisanzwe bibaho nyuma y'igihe kandi uburyo bwo kugenda bushobora kuba butandukanye. Bamwe mu bana bagenda bonyine ku myaka 2-3, abandi bashobora kudagenda kugeza ku myaka 4-7 cyangwa nyuma yaho. Ubuvuzi bw'umubiri bushobora gufasha cyane kunoza ubushobozi bwo kugenda no kubungabunga umubiri.

Abantu bafite Angelman Syndrome bashobora gutumanaho?

Nubwo abantu benshi bafite Angelman Syndrome bafite ubushobozi buke bwo kuvuga, akenshi basobanukirwa byinshi kurusha uko bashobora kubivuga. Benshi biga gutumanaho neza binyuze mu myitozo, amakarita y'amashusho, ururimi rw'amaboko, cyangwa ibikoresho byo gutumanaho by'ikoranabuhanga. Ubushobozi bwabo bwo gusobanukirwa akenshi burarenze ubushobozi bwabo bwo kuvuga.

Imihindagurikire muri Angelman Syndrome irakomeza gukura?

Imihindagurikire ni ibisanzwe muri Angelman Syndrome, igira ingaruka ku bantu bagera kuri 80%, ariko ntibikomeza gukura uko umuntu akura. Mu by'ukuri, imihindagurikire ikunda kugabanuka kandi irafatwa neza uko abana bakura, cyane cyane hamwe n'imiti ikwiye. Abantu benshi basanga imihindagurikire iba ikibazo gito mu myaka y'ubwangavu n'ubukure.

Angelman Syndrome irazwa mu babyeyi?

Mu bihe byinshi, Angelman Syndrome ibaho ku bwinshi kandi ntirazwa mu babyeyi. Hagati ya 90% by'ibibazo ni impinduka nshya z'impyiko ziba mu gihe cyo gukora uturemangingo tw'imyororokere cyangwa mu ntangiriro y'inda. Mu bihe bike gusa birimo impinduka mu miterere ya chromosome hashobora kubaho ibyago byiyongereye ku nda zizakurikira.

Igihe cyo kubaho cy'umuntu ufite Angelman Syndrome ni iki?

Abantu bafite Angelman Syndrome basanzwe babaho igihe kirekire cyangwa hafi ya cyo. Nubwo iyi ndwara itera ibibazo bisaba ubufasha buhoraho n'ubuvuzi, ntibigabanya igihe cyo kubaho cyane. Abantu benshi bakuru bafite Angelman Syndrome babaho kugeza mu myaka yabo y'ubukure, cyane cyane hamwe n'ubuvuzi bwiza n'ubufasha bw'umuryango.