Angelmann's Syndrome

I-Angelmann syndrome i-anomaly anomaly (i-chromosomal mutation), ngenxa yoko kukho ukulibaziseka ekuphuhliseni kwengqondo, njengoko inkqubo yokuphefumula, ngenxa yeenkqubo ze-neurobiological , iyenzeka ngokwaneleyo. Ngaloo ndlela, umntu uhlala ehleka, ukunyakaza kwezandla, ukuxhatshazwa, ukulala kukuphazamiseka. Esi sifo asiphilwanga, kodwa ukuphuculwa kunokwenzeka kuphela ukuba kufuneka i-basic need for oxygen.

Esi sifo sibonakala njengesiphumo sokukhubazeka kwe-chromosome ngokukhawuleza, ngenxa yokuguqulwa komzimba, i-enzyme ye-protein degradation iyenzeka.

Kuza kube namhlanje, i-angelman syndrome ivela kwintsapho engamawaka amabini amawaka. Kubonakaliswe ngu:

1. Iingxaki zokuncelisa, njengoko le nkqubo ibandakanya ukulungelelanisa ukuphefumula ukuphepha. Ngoko ke, abantwana bayazuza ngokungafanelekanga.

2. Ukukhawuleza ekuphuhliseni izakhono zamandla jikelele, intetho, ingqalelo. Kukho ubunzima ekuqeqesheni kwabo.

3. Ukuhluthwa kwesifo kubangelwa ngama-80% amatyala . Kukho ukunyakaza kunye nokungahambisani nokungathandanga kwemilenze, kukho ukudibanisa okunokuthi kukho zonke izihlunu zomzimba, kugxininise okanye ngendlela yokulahlekelwa kwengqondo.

Ukuhleka okanye ukumamatheka ngaphandle kwesizathu.

5. Ulwaphulo-mthetho kuphuhliso jikelele - ubungakanani obungalunganga bentloko kunye nobuso buso, ubunqamlezo, ukukhawulwa komlenze.

I-Angelmann syndrome ifunyaniswa ukuhlalutya kwezesifo se- chromosome ye- 15. Isetyenziswe kwimeko xa kukho i- tone ye-muscle eyanciphayo kwiintsana, ukulibaziseka ekuphuhlisweni kwentetho kunye nezakhono zamandla, kunye nokuthuthumela okuncinci, ukunyakaza okungaqhelekanga kwezitho, ukuhleka kwexesha okanye ukuhamba kwimilenze engapheliyo. I-DNA methylation, uhlalutyo lokuguqulwa kweziko lokuprinta kunye ne-UBE3A isetyenziswe kwakhona.

Kuze kube yiminyaka, iindlela zokonyango kwesi sifo azange zenziwe. Kodwa kukho ininzi yemisebenzi ejoliswe ekuphuhlisweni kwabantwana abasemaphandleni, kunye nokuphucula umgangatho wobomi.

Ngoko ke, iiklasi ziqhutywe kunye ne-defectologist kunye neengcali zonyango, i-physiotherapy isetyenziselwa imeko ye-hypotension ye-muscle, kunye nokuphazamiseka kokulala kunqunyelwe ukuphazamiseka kokulala. Xa kuhlaselwa ama-ejenti afana neyeza, njengesifo sokufa (anticonvulsants). Ukugcina umsebenzi oqhelekileyo wamathumbu, asetyenziselwa i-laxatives.

Ukusebenzisana nabantwana ukususela kwiminyaka yobudala, usebenzisa iiprogram ezizodwa ezijolise ekuphuhliseni izakhono zezithuthi, unokufumana iziphumo ezilungileyo.

Amathemba okuphuhliswa kwabantu abane-syndrome kuxhomekeke kwimeko ye-chromosome yeshumi elinesihlanu echaphazelekayo. Abanye bafunda intetho kunye nezakhono zesevisi ngokwamanqanaba aphantsi, abanye abayi kuze bakwazi ukuthetha nokuhamba.

Ngaloo ndlela, kubantwana abane-Angelmann syndrome, ezinye iimpawu zokuziphatha ziyimpawu: ukuthabatha, ukuzithemba, ukunyamekela ukuthetha nabantu. Yaye nangona ininzi yabo ingabikho ngokupheleleyo, ngokuqhelekileyo babenobungane, banomdla, bathanda ukudlala, ngoko kuyacetyiswa ukuba baqeqeshe ulwimi lwabo lwezandla ukuze bakwazi ukunxibelelana nabantu.

Ukukhubazeka okunjalo kuphuhliso kufuneke uqeqesho olukhethekileyo kwiinqanaba zokuqala, njengoko iingxaki zikhula kuphela ngobudala. Ukuziphatha kwabantu kuqhubeka kungaqhelekanga, kubonakaliswa kuphela ngempawu kunye nezandi, kunokuba nobudlova xa bengenakuqonda. Intsapho enezingane ezine-Angelman syndrome zihlala zijongene nokungabikho koqhagamshelwano, kodwa khumbula ukuba izigulane kufuneka zizungezwe ngumoya wokuthakazelelwa kwaye zibonelele ngononophelo olufanelekileyo kunye unyango, kwaye ngoko unokufumana iziphumo ezilungileyo.