Angelman syndrome

Angelman syndrome (AS) o se ituaiga kenera e mafua ai faʻafitauli ma le auala e tuputupu aʻe ai le tino o le tamaititi ma le faiʻai. O le faʻamaʻi o loʻo iai mai le fanau mai (fanau mai). Peitai, e masani ona le faʻamaonia seʻi aulia le 6 i le 12 masina o le matua. Ole taimi lea e muamua maitauina ai faʻafitauli tau atinaʻe ile tele o tulaga.

Lenei tulaga aofia ai le kenera UBE3A.

Ole tele o kenera e omai paga. Tamaiti maua se tasi mai matua taʻitasi. I le tele o tulaga, o genes uma e ola. O lona uiga o faʻamatalaga mai i genes uma e lua o loʻo faʻaaogaina e sela. Faatasi ai ma le UBE3A gene, e pasi uma e matua, ae naʻo le kenera pasi mai le tina e toaga.

Angelman syndrome e masani ona tupu ona UBE3A pasi mai le tina e le galue i le auala e tatau ai. I nisi tulaga, AS e mafua pe a lua kopi o UBE3A gafa e sau mai le tama, ma e leai se sau mai le tina. O lona uiga e le ola le tasi kenera, aua o latou uma e sau mai le tama.

I pepe faatoa fananau mai ma pepe:

• Leiloa o maso maso (floppiness)
• Faʻafitauli fafagaina
• Heartburn (acid reflux)
• Tetete lima ma vae vae

I tamaiti laiti ma tamaiti matutua:

• Le savali mautu pe savali savali
• Laititi pe leai foi se tautalaga
• Fiafia, faʻamalieina uiga
• Talie ma ataata soo
• Malamalama lauulu, paʻu, ma le mata lanu faʻatusatusa i le totoe o le aiga
• Laʻititi ulu lapoʻa faʻatusatusa i le tino, faʻapipiʻi tua o le ulu
• Ogaoga mafaufau
• Faoa faamalosi
• Ova le soʻoga o lima ma lima
• Faʻafitauli o le moe
• Gagana tuleia, drooling
• O gaioiga masani a le lamuina ma le gutu
• Kolose mata
• Savalivali ma lima sisi i luga ma talotalo lima

Tele tamaiti ma lenei faʻamaʻi e le faʻaalia faʻailoga seʻi vagana ua 6 i le 12 masina. Ole taimi lea e ono maitau ai e matua le tuai ole atinaeina ole tama, pei ole tolotolo pe amata ona tautala.

Tamaiti i le va o le 2 ma le 5 tausaga le matutua amata ona faʻaalia auga e pei o le savali savali, fiafia uiga, talie soo, leai se tautala, ma faʻafitauli mafaufau.

Genetic tofotofoga ono faʻamaonia Angelman syndrome. O nei suʻega vaʻai mo:

• Leiloa ni vaega o chromosome
• DNA suʻega e vaʻai pe o kopi o le kenera mai matua uma e i se le toaga pe faʻagaoioia tulaga
• Gene mutation i le tina o le kopi o le gafa

O isi suʻega ono aofia ai:

• Brain MRI
• EEG
  

E leai se fofo mo Angelman syndrome. Togafitiga fesoasoani i le puleaina o soifua maloloina ma atinaʻe faʻafitauli mafua mai i le tulaga.

• Anticonvulsant vailaʻau fesoasoani faʻatonutonu faoa
• Amioga togafitiga fesoasoani pulea hyperactivity, moe faafitauli, ma atinae faafitauli
• Galuega faʻapitoa ma le tautala togafitiga faʻatonutonu faʻafitauli tautala ma aʻoaʻoina ia ola tomai
• Fesoasoani faʻamalositino e fesoasoani ile savali ma faʻafitauli o feoaʻi
  

Angelman Syndrome Foundation: www.angelman.org

AngelmanUK: www.angelmanuk.org

Tagata e iai AS e nonofo latalata i se olaga masani. Toatele e iai faauooga ma fegalegaleai lautele. Togafitiga fesoasoani faʻalelei galue. Tagata e iai AS e le mafai ona nonofo naʻo latou. Peitai, atonu e mafai ona latou aʻoaʻoina ni galuega ma nonofo faʻatasi ma isi i se nofoaga vaʻavaʻaia.

Faʻafitauli e ono aofia ai:

• Faoa faamalosi ogaoga
• Gastroesophageal reflux (fatuga)
• Scoliosis (curved spine)
• Faʻaletonu manuʻa ona o le le taofiofia gaioiga

Valaʻau lau fomaʻi pe a fai o loʻo maua i lou alo faʻailoga o lenei maʻi.

E leai se auala e puipuia ai Angelman faʻamaʻi. Afai e iai sau tama e iai AS poʻo se talaʻaga a le aiga o le maʻi, atonu e te manaʻo e te talanoa ma lau tautua ae e te leʻi maʻito.

Dagli AI, Mueller J, Williams CA. Angelman syndrome. GeneReviews. Seattle, WA: Iunivesite o Uosigitone; 2015: 5. PMID: 20301323 www.ncbi.nlm.nih.gov/pubmed/20301323. Faʻafouina Tesema 27, 2017. Avanoa i Aukuso 1, 2019.

Kumar V, Abbas AK, Aster JC. Kenese ma faʻamaʻi tamaiti I: Kumar V, Abbas AK, Aster JC, eds. Robbins Faʻavae Pathology. 10 ed. Filatelefia, PA: Elsevier; 2018: mata 7.

Madan-Khetarpal S, Arnold G. Genetic faʻafitauli ma tulaga faʻamaʻi. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli ma Davis 'Atlas o Pediatric Physical Diagnosis. 7th ed. Filatelefia, PA: Elsevier; 2018: mata 1

Nussbaum RL, McInnes RR, Willard HF. O le chromosomal ma le genomic faʻavae o faʻamaʻi: faʻaletonu o le autosome ma feusuaiga chromosome. I le: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics i Faʻafomai. 8th ed. Filatelefia, PA: Elsevier; 2016: mata 6.