I-Angelman syndrome

I-Angelman syndrome (AS) yisimo sezakhi zofuzo esidala izinkinga ngendlela umzimba nengqondo yengane ekhula ngayo. Lesi sifo sikhona kusukela ekuzalweni (kokuzalwa). Kodwa-ke, kaningi ayitholakali kuze kube yizinyanga ezineminyaka eyisithupha kuya kwengu-12 ubudala. Yilapho izinkinga zentuthuko ziqala ukubonwa ezimweni eziningi.

Lesi simo sifaka ufuzo UBE3A.

Izinhlobo eziningi zofuzo ziza ngambili. Izingane zithola eyodwa kumzali ngamunye. Ezimweni eziningi, zombili izakhi zofuzo ziyasebenza. Lokhu kusho ukuthi imininingwane evela kuzo zombili izakhi zofuzo isetshenziswa amaseli. Ngefayela le- UBE3A ufuzo, bobabili abazali bayaludlulisa, kepha kuphela isakhi esidluliselwa ngumama esisebenzayo.

I-Angelman syndrome ivame ukwenzeka ngoba UBE3A okudluliswe kumama akusebenzi ngendlela okufanele. Kwezinye izimo, i-AS ibangelwa lapho amakhophi amabili we UBE3A ufuzo luvela kubaba, futhi alukho oluvela kunina. Lokhu kusho ukuthi alukho ufuzo olusebenzayo, ngoba zombili zivela kubaba.

Ezinsaneni nasezinsaneni:

• Ukulahleka kwethoni yemisipha (ukuqina)
• Ukudla okunenkinga
• Isilungulela (i-acid reflux)
• Ukuthuthumela ukunyakaza kwengalo nemilenze

Ezinganeni nasezinganeni ezindala:

• Ukuhamba okungazinzile noma okunyantisayo
• Inkulumo encane noma engekho
• Ubuntu obujabulisayo, obujabulisayo
• Ukuhleka nokumamatheka kaningi
• Izinwele ezikhanyayo, isikhumba, nombala wamehlo kuqhathaniswa nawo wonke umndeni
• Usayizi omncane wekhanda uma uqhathaniswa nomzimba, uyisicaba emuva kwekhanda
• Ukukhubazeka okukhulu kwengqondo
• Ukuquleka
• Ukunyakaza okweqile kwezandla nezitho
• Izinkinga zokulala
• Ulimi ludonsa, luconsa amathe
• Ukuhlafuna okungajwayelekile nokunyakaza komlomo
• Amehlo awele
• Ukuhamba ngezingalo eziphakanyisiwe nezandla ziqhweba

Iningi lezingane ezinalesi sifo azibonisi zimpawu kuze kube cishe izinyanga eziyisithupha kuya kwezingu-12. Yilapho-ke lapho abazali bengaqaphela ukubambezeleka ekukhuleni kwengane yabo, njengokungakhasi noma ukuqala ukukhuluma.

Izingane ezineminyaka ephakathi kwengu-2 nengu-5 ziqala ukukhombisa izimpawu ezinjengokuhamba ngamehlo, ubuntu obujabulisayo, ukuhleka kaningi, ukungakhulumi, nezinkinga zengqondo.

Ukuhlolwa kofuzo kungahlola i-Angelman syndrome. Lezi zivivinyo zibheka:

• Izingcezu zama-chromosomes ezingekho
• Ukuhlolwa kwe-DNA ukubona ukuthi amakhophi esakhi sofuzo avela kubo bobabili abazali asesimweni sokungasebenzi noma sokusebenza
• Ukuguquka kwezakhi zofuzo kukhophi kamama yofuzo

Ezinye izivivinyo zingafaka:

• I-Brain MRI
• I-EEG
  

Alikho ikhambi le-Angelman syndrome. Ukwelashwa kusiza ukuphatha izinkinga zezempilo nezentuthuko ezibangelwa yilesi simo.

• Imithi ye-anticonvulsant isiza ukulawula ukubanjwa
• Ukwelashwa kokuziphatha kusiza ukuphatha ukungasebenzi kahle, izinkinga zokulala, nezinkinga zokuthuthuka
• Ukwelashwa emsebenzini nasekukhulumeni kulawula izinkinga zokukhuluma futhi kufundisa amakhono okuphila
• Ukwelashwa ngokomzimba kusiza ngezinkinga zokuhamba nokunyakaza
  

I-Angelman Syndrome Foundation: www.angelman.org

U-AngelmanUK: www.angelmanuk.org

Abantu abane-AS baphila eduze nempilo ejwayelekile. Abaningi banobungane futhi bahlanganyela emphakathini. Ukwelashwa kusiza ukuthuthukisa ukusebenza. Abantu abane-AS abakwazi ukuhlala bodwa. Kodwa-ke, bangakwazi ukufunda imisebenzi ethile futhi bahlale nabanye endaweni egadiwe.

Izinkinga zingafaka:

• Ukuquleka okukhulu
• I-reflux ye-gastroesophageal (isilungulela)
• I-Scoliosis (umgogodla ogobile)
• Ukulimala ngengozi ngenxa yokunyakaza okungalawulwa

Shayela umhlinzeki wakho wezokunakekelwa kwezempilo uma ingane yakho inezimpawu zalesi simo.

Ayikho indlela yokuvimbela i-Angelman syndrome. Uma unengane ene-AS noma umlando womndeni waleso simo, ungahle uthande ukukhuluma nomhlinzeki wakho ngaphambi kokukhulelwa.

UDagli AI, uMueller J, uWilliams CA. I-Angelman syndrome. Ukubuyekezwa kweGeneReviews. Seattle, WA: University of Washington; 2015: 5. PMID: 20301323 www.ncbi.nlm.nih.gov/pubmed/20301323. Kubuyekezwe uDisemba 27, 2017. Kufinyelelwe ngo-Agasti 1, 2019.

UKumar V, Abbas AK, Aster JC. Izifo zofuzo nezengane. Ku: Kumar V, Abbas AK, Aster JC, ama-eds. I-Robbins Basic Pathology. Umhlaka 10. IPhiladelphia, PA: Elsevier; 2018: isahluko 7.

IMadan-Khetarpal S, i-Arnold G.Izinkinga zofuzo nezimo ze-dysmorphic. Ku: Zitelli BJ, McIntire SC, Nowalk AJ, ama-eds. UZitelli noDavis ’Atlas of Pediatric Physical Diagnosis. Umhla wesi-7. IPhiladelphia, PA: Elsevier; 2018: isahluko 1.

UNussbaum RL, McInnes RR, uWillard HF. Isisekelo se-chromosomal ne-genomic sesifo: ukuphazamiseka kwama-autosomes nama-chromosomes ocansi. Ku: Nussbaum RL, McInnes RR, Willard HF, ama-eds. I-Thompson & Thompson Genetics kwezokwelapha. Umhlaka 8. IPhiladelphia, PA: Elsevier; 2016: isahluko 6.