Isifo seAngelman

I-Angelman syndrome (AS) yimeko yemfuza ebangela iingxaki ngendlela umzimba nomntwana okhula ngayo. Isifo esikhoyo ngokuzalwa (kokuzalwa). Nangona kunjalo, ihlala ifunyaniswa de ibe malunga neenyanga ezi-6 ukuya kwezi-12 ubudala. Yilapho iingxaki zophuhliso ziqwalaselwa okokuqala kwiimeko ezininzi.

Le meko ibandakanya ufuzo UBE3A.

Uninzi lwemfuza luza ngababini. Abantwana bafumana omnye kumzali ngamnye. Kwiimeko ezininzi, zombini izakhi zofuzo ziyasebenza. Oku kuthetha ukuba ulwazi oluvela kuzo zombini zofuzo lusetyenziswa ziiseli. Ne UBE3A Imfuza, bobabini abazali bayayidlulisa, kodwa kuphela luhlobo oludluliselwe ngumama olusebenzayo.

I-Angelman syndrome ihlala yenzeka kuba UBE3A ukudlula kumama akusebenzi ngendlela ebekufanele. Ngamanye amaxesha, AS ibangelwa xa iikopi ezimbini ze UBE3A Imfuza ivela kutata, kwaye akukho namnye ophuma kunina. Oku kuthetha ukuba akukho luhlobo lusebenzayo, kuba zombini zivela kuyise.

Kwiintsana kunye neentsana:

• Ukuphulukana nethoni yemisipha (ukungakhathali)
• Ingxaki yokondla
• Isibilini (i-acid reflux)
• Ukungcangcazela kwengalo nemilenze

Kubantwana abaselula kunye nabantwana abadala:

• Ukuhamba okungazinzanga okanye okukrwada
• Incoko encinci okanye akukho
• Ukonwaba, ubuntu obunomdla
• Ukuhleka nokumomotheka rhoqo
• Ukukhanya kweenwele, ulusu kunye nombala wamehlo ngokuthelekiswa nolunye usapho
• Ubungakanani bentloko encinci xa kuthelekiswa nomzimba, umva wentloko
• Ukukhubazeka okukhulu kwengqondo
• Ukuxhuzula
• Ukuhamba okugqithisileyo kwezandla kunye nemilenze
• Iingxaki zokulala
• Ulwimi luyatyhala, luyekise amathe
• Ukuhlafuna okungaqhelekanga kunye nokuhamba ngomlomo
• Amehlo awele
• Ukuhamba ngengalo eziphakanyisiweyo izandla ziwangawangisa

Uninzi lwabantwana abanale ngxaki ababonisi zimpawu de kube ziinyanga ezi-6 ukuya kwezi-12. Kulapho abazali banokuthi babone ukulibaziseka ekukhuleni komntwana wabo, njengokungarhubuluzi okanye ukuqala ukuthetha.

Abantwana abaphakathi kweminyaka emi-2 ukuya kwemi-5 ubudala baqala ukubonisa iimpawu ezinjengokuhamba ngokungagungqi, ukonwaba, ukuhleka rhoqo, ukungathethi, kunye neengxaki zengqondo.

Uvavanyo lwe-Genetic lunokuchonga i-Angelman syndrome. Olu vavanyo lukhangela:

• Iziqwenga ezingekhoyo ze-chromosomes
• Uvavanyo lwe-DNA ukubona ukuba iikopi zofuzo kubazali bobabini zikwimeko yokungasebenzi okanye esebenzayo
• Ukutshintsha kweGene kwikopi kamama yemfuza

Olunye uvavanyo lunokubandakanya:

• I-Brain MRI
• I-EEG
  

Akukho lonyango lwe-Angelman syndrome. Unyango lunceda ukulawula iingxaki zempilo kunye nophuhliso ezibangelwa yimeko.

• Amayeza e-anticonvulsant anceda ukulawula ukuxhuzula
• Unyango ngokuziphatha luyanceda ukulawula ukungasebenzi kakuhle, iingxaki zokulala, kunye neengxaki zophuhliso
• Unyango emsebenzini kunye nentetho ulawula iingxaki zokuthetha kwaye ufundise izakhono zokuphila
• Unyango lomzimba luyanceda ekuhambeni nasekuhambeni kweengxaki
  

Isiseko seAngelman Syndrome: www.angelman.org

AngelmanUK: www.angelmanuk.org

Abantu abane-AS bahlala kufutshane nobomi obuqhelekileyo. Uninzi lunobuhlobo kwaye lunxibelelana nabanye. Unyango lunceda ukuphucula ukusebenza. Abantu abane-AS abanakuzihlalela. Nangona kunjalo, banokwazi ukufunda imisebenzi ethile kwaye bahlala nabanye kwindawo elawulwayo.

Iingxaki zinokubandakanya:

• Ukuxhuzula okumandla
• I-Reflux ye-Gastroesophageal (isitshisa)
• I-Scoliosis (umqolo ogobileyo)
• Ukwenzakala ngengozi ngenxa yokuhamba okungalawulekiyo

Fowunela umboneleli wakho wezempilo ukuba umntwana wakho uneempawu zale meko.

Akukho ndlela yokuthintela i-Angelman syndrome. Ukuba unomntwana one-AS okanye imbali yosapho yale meko, unokufuna ukuthetha nomboneleli wakho ngaphambi kokuba ukhulelwe.

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UKumar V, u-Abbas AK, uAster JC. Izifo zemvelo kunye nezifo zabantwana. Ku: Kumar V, Abbas AK, Aster JC, ii-eds. Robbins yePathology esisiseko. Ngomhla we-10. IPhiladelphia, PA: Elsevier; I-2018: isahluko 7.

UMadan-Khetarpal S, uArnold G.Ukuphazamiseka kwemfuza kunye neemeko zedysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ii-eds. UZitelli no-Davis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; I-2018: isahluko 1.

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