Lefu la Angelman

Angelman syndrome (AS) ke boemo ba lefutso bo bakang mathata ka tsela eo 'mele le boko ba ngoana li holang ka eona. Syndrome e teng ho tloha tsoalong (congenital). Leha ho le joalo, hangata ha e fumanoe ho fihlela likhoeli tse ka bang 6 ho isa ho tse 12. Ke ha mathata a ntlafatso a qala ho hlokomeloa maemong a mangata.

Boemo bona bo kenyelletsa liphatsa tsa lefutso UBE3A.

Bongata ba liphatsa tsa lefutso li tla ka bobeli. Bana ba amohela e le 'ngoe ho motsoali ka mong. Maemong a mangata, liphatsa tsa lefutso ka bobeli lia sebetsa. Sena se bolela hore tlhaiso-leseling e tsoang liphatseng tsa lefutso ka bobeli e sebelisoa ke lisele. Ka faele ea UBE3A liphatsa tsa lefutso, batsoali ka bobeli baa e fetisa, empa ke liphatsa tsa lefutso tse fetisitsoeng ke 'm'a tsona tse sebetsang.

Angelman syndrome hangata e hlaha hobane UBE3A e fetisitsoeng ke mme ha e sebetse ka tsela eo e lokelang. Maemong a mang, AS e bakoa ke likopi tse peli tsa UBE3A liphatsa tsa lefutso li tsoa ho ntate, 'me ha ho le e' ngoe e tsoang ho mme. Sena se bolela hore ha ho na lefutso le sebetsang, hobane ka bobeli li tsoa ho ntate.

Ho masea le masea:

• Ho lahleheloa ke molumo oa mesifa (ho fofa)
• Ho fepa ka bothata
• Ho chesa ha pelo (acid reflux)
• Ho sisinyeha ha letsoho le maoto

Ho bana ba banyenyane le ho bana ba baholoanyane:

• Ho tsamaea ka mokhoa o sa tsitsang kapa o ferekanyang
• Puo e nyane kapa che
• Motho ea thabileng, ea khahlisang
• Ho tšeha le ho bososela khafetsa
• Moriri o bobebe, letlalo le 'mala ha o bapisoa le ba bang ba lelapa
• Boholo ba hlooho e nyane ha bo bapisoa le 'mele, mokokotlo oa hlooho
• Bokooa bo matla ba kelello
• Ho oa
• Motsamao o feteletseng oa matsoho le maoto le matsoho
• Mathata a boroko
• Leleme le sutumetsa, le rotha mathe
• Mekhoa e sa tloaelehang ea ho hlafuna le ho tsamaisa molomo
• Mahlo a sefapano
• Ho tsamaea ka matsoho a phahamisitsoeng le matsoho a tsoka

Boholo ba bana ba nang le bothata bona ha ba bontše matšoao ho fihlela likhoeli tse ka bang 6 ho isa ho tse 12. Ke hona moo batsoali ba ka bonang ho lieha ho hola ha ngoana oa bona, joalo ka ho se khasa kapa ho qala ho bua.

Bana ba pakeng tsa lilemo tse 2 ho isa ho tse 5 ba qala ho bontša matšoao a joalo ka ho tsamaea ka botsitso, botho bo thabileng, ho tšeha khafetsa, ho se puo, le mathata a kelello.

Liteko tsa liphatsa tsa lefutso li ka fumana Angelman syndrome. Liteko tsena li batla:

• Likotoana tsa li-chromosome tse sieo
• Teko ea DNA ho bona hore na likopi tsa lefutso tse tsoang ho batsoali ka bobeli li maemong a sa sebetseng kapa a mafolofolo
• Phetoho ea lefutso koping ea mme ea lefutso

Liteko tse ling li ka kenyelletsa:

• MRI ea boko
• EEG
  

Angelman syndrome ha e na pheko. Kalafo e thusa ho sebetsana le mathata a bophelo bo botle le nts'etsopele a bakoang ke boemo boo.

• Meriana ea li-anticonvulsant e thusa ho laola ho oa
• Phekolo ea boits'oaro e thusa ho laola botsitso, mathata a ho robala le mathata a nts'etsopele
• Phekolo ea mosebetsing le ea ho bua e sebetsana le mathata a puo ebile e ruta tsebo ea ho phela
• Phekolo ea 'mele e thusa ka mathata a ho tsamaea le ho sisinyeha
  

Mokhatlo oa Angelman Syndrome: www.angelman.org

AngelmanUK: www.angelmanuk.org

Batho ba nang le AS ba phela haufi le nako e tloaelehileng ea bophelo. Ba bangata ba na le metsoalle ebile ba sebelisana 'moho. Kalafo e thusa ho ntlafatsa ts'ebetso. Batho ba nang le AS ba sitoa ho phela ba le bang. Leha ho le joalo, ba kanna ba ithuta mesebetsi e meng mme ba lula le ba bang maemong a laoloang.

Mathata a ka kenyelletsa:

• Ho oa haholo
• Reflux ea gastroesophageal (ho otloa ke pelo)
• Scoliosis (mokokotlo o kobehileng)
• Kotsi e kotsi ka lebaka la metsamao e sa laoleheng

Bitsa mofani oa tlhokomelo ea bophelo haeba ngoana oa hau a e-na le matšoao a boemo bona.

Ha ho na mokhoa oa ho thibela lefu la Angelman. Haeba u na le ngoana ea nang le AS kapa nalane ea boemo boo, u kanna ua batla ho bua le mofani oa hau pele u ima.

AI ea Dagli, Mueller J, Williams CA. Lefu la Angelman. Litlhahlobo. Seattle, WA: Univesithi ea Washington; 2015: 5. PMID: 20301323 www.ncbi.nlm.nih.gov/pubmed/20301323. E ntlafalitsoe ka la 27 Tšitoe 2017. E fihlile ka Phato 1, 2019.

Kumar V, Abbas AK, Aster JC. Mafu a liphatsa tsa lefutso le a bana. Ka: Kumar V, Abbas AK, Aster JC, bahlophisi. Robbins Basic Pathology. 10th ed. Philadelphia, PA: Elsevier; 2018: khaolo ea 7.

Madan-Khetarpal S, Mathata a liphatsa tsa lefutso a Arnold G. le maemo a dysmorphic. Ka: Zitelli BJ, McIntire SC, Nowalk AJ, li-eds. Zitelli le Davis ’Atlas of Pediatric Physical Diagnosis. La 7th. Philadelphia, PA: Elsevier; 2018: khaolo ea 1.

Nussbaum RL, McInnes RR, Willard HF. Chromosomal le genomic motheo oa lefu: mathata a li-autosomes le li-chromosomes tsa thobalano. Ka: Nussbaum RL, McInnes RR, Willard HF, bahlophisi. Thompson & Thompson liphatsa tsa lefutso tsa bongaka. La 8th. Philadelphia, PA: Elsevier; 2016: khaolo ea 6.