I-portal yaseYurophu ye izifo ezinqabileyo kunye neziyobisi zeenkedama ichaza i Angelma syndromen njenge "neurogenetic disorder ebonakaliswe kukunqongophala okukhulu kwengqondo kunye neempawu ze-dysmorphic ebusweni." Njengoko bekulindelwe, ukuxhaphaka kwehlabathi kuphakathi kwe-1 / 10.000 kunye ne-1 / 20.000.
Oko kukuthi, bambalwa abantu ehlabathini abanale ngxaki inqabileyo. ESpain, bamalunga nama-2000 abantu abaphethwe yiyo, kodwa baninzi abangafunyaniswanga, ngoko kukho malunga nama-400 amatyala.
Iimpawu ze-Angelman syndrome
Nangona sesinye sezifo ezinqabileyo kunye nezinga eliphantsi kakhulu kubemi, akukho mntu ukhutshiweyo ekubandezelekeni kwesi sifo. Sisifo semvelaphi yemfuza ebangela ukulibaziseka ekuphuhliseni kwakhona kuhambelana neengxaki zokuthetha kunye nokulinganisela. Nge Isifo seAngelman Ukukhubazeka ngokwasengqondweni kukwavela kwaye, ngamanye amaxesha, ukubonakala kokuxhuzula.
Sisifo esinganyangekiyo nangona sinengqikelelo entle ngokweminyaka elindelekileyo yokuphila kuba siphantse saqheleka. Abantu abane Isifo seAngelman Abayeki ukuba nobomi obonwabisayo, nangona benazo zonke ezi mida, batyekele ekuncumeni nasekuhlekeni rhoqo, nangona bekwafanele baphile nemida neengxaki ezininzi ezinxulumene nesi sifo.
Phakathi Iimpawu ze-Angelman syndrome oku kulandelayo kuvela:
- Ulibaziseko oluphuhlayo (luquka ukungarhubuluzi okanye ukubhibhidla phakathi kweenyanga ezi-6 nezili-12)
- Ukukhubazeka kwengqondo
- Akukho ntetho okanye intetho encinci
- Ubunzima bokuhamba, ukuhamba, okanye ukulinganisa kakuhle
- Uncumo rhoqo kunye nokuhleka
- Umntu ovuyayo nonomdla
- Ingxaki yokulala nokuhlala ulele
Uninzi lwabantu abane-syndrome abanalo imbali yofuzo, eya kubonisa ukuba sisifo esinqabileyo kunye nesingaqhelekanga.
Khangela i-Angelman syndrome
Khangela i-Angelman syndrome akukho lula. Ekuqaleni, abazali baqala ukubhalisa ukulibaziseka kwindlela yokuziphatha yabantwana babo, ngakumbi xa kuthelekiswa namava kunye nabantakwenu abadala okanye nabanye abantwana. Ukulibaziseka kokukhula kubonakala phakathi kweenyanga ezi-6 kunye ne-12 ubudala kwaye kuxa abazali badla ngokubonisana, mhlawumbi ngenxa yokuba umntwana akakhasi okanye akabhibhi. Kwelinye icala, kukho abantwana abaqala ukuxhuzula xa bekwiminyaka emi-2 okanye emi-3. Ukulibaziseka kokukhula kolona phawu lubonakalayo, into eyandayo njengoko umntwana ekhula kwaye akaphuhlisi izakhono ezithile zobudala.
Abantu abathi uphethwe sesi sifo Ukongeza ekubonakaliseni ukulibaziseka kokukhula, babonisa ezinye iimpawu ze-Angelman disorder ezifana:
- Iintshukumo eziqinileyo okanye ezixhuzulayo
- Intloko encinci, enendawo ethe tyaba ngasemva kwentloko
- Ungenelelo lolwimi
- Iinwele ezinombala okhanyayo, ulusu kunye namehlo
- Ukuziphatha okungaqhelekanga, njengokuqhwaba izandla kunye nokuphakamisa iingalo xa uhamba
- Iingxaki zokulala
Izizathu kunye neengxaki
Njengoko kwaziwa, i Isifo seAngelman Kubangelwa ukuguqulwa kofuzo, okuku-chromosome 15, oko kukuthi, kwi-gene evelisa i-ubiquitin ligase E3A protein (UBE3A). Nangona phantsi kweemeko eziqhelekileyo, umntwana ongekazalwa ufumana imizila yemfuza kwenye ikopi yemfuza kamama enye evela kumzila kayise, kwimeko yesi sifo kubonakala ngathi ikopi kanina kuphela yalo mzila. engekho okanye yonakele. Kwiimeko ezimbalwa kuphela, ezi ziikopi ezimbini zomzila wemfuza kayise, njengoko ngokuqhelekileyo ezi kopi zimbini zezomzi kanina.
Ngenxa yokungakhethi kokuphazamiseka, akunakwenzeka ukuyikhusela, ngaphandle kokuba umntwana omdala uhlaselwa sisifo kwaye, ukusuka apho, i-geneticist idibaniswe ngaphambi kokukhulelwa kwakhona.
Ngelishwa, abantu abane-Angelman syndrome banokuba neengxaki ezininzi ezifana
- Ubunzima bokutya
- Ukuxakeka kakhulu kunye nokuthatha ingqalelo emfutshane. Ukuxakeka kuncipha ngokukhula.
- Ukuphazamiseka kokulala. Ngokuqhelekileyo abantwana bafuna iiyure ezimbalwa zokulala kunabantu abaninzi, nangona oku kusiba yinto eqhelekileyo ngokweminyaka. Into enokuphinda incedwe ngamayeza kunye nonyango olwahlukileyo.
- I-Scoliosis
- Ukutyeba kakhulu