Rett syndrome

Rett syndrome (RTT) o se faʻaletonu o le neula. Lenei tulaga taitaiina atu i atinae faafitauli i tamaiti. E tele na aʻafia le agavaʻa i gagana ma le faʻaaogaina o lima.

RTT tupu toetoe lava o taimi uma i teine. E ono maua ile faʻamaʻi ole autism poo le cerebral palsy.

Ole tele o mataupu ole RTT e mafua mai ile faʻafitauli ile genes ua taʻua ole MECP2. Lenei kenera o loʻo i le X chromosome. Tamaʻitaʻi e i ai X X chromosome. Tusa lava pe i ai i le tasi chromosome lenei faaletonu, o le isi X chromosome ua lava ma totoe mo le tamaititi e ola ai.

O tama tane fananau mai ma lenei le atoatoa genes e leai se lona lua X chromosome e fai mo le faʻafitauli. O le mea lea, o le faʻaletonu e masani lava ona iʻu ai i le maʻuti o le maitaga, fananau mai o pepe, po o le vave maliu.

O le pepe me iai le RTT e masani ona iai lona tupuʻaga masani mo le muamua 6 i le 18 masina. Faʻailoga e amata mai i le agamalu i le ogaoga.

Faʻailoga e ono aofia ai:

• Manava manava, lea e mafai ona sili atu leaga i le popole. Manava e masani lava masani i le taimi o le moe ma masani a o ala.
• Suiga i atinae.
• Ova tele le faua ma lafila.
• Floppy lima ma vae, o le masani lea o le muamua faʻailoga.
• Faʻapitoa mafaufau ma faigata aʻoaʻoga.
• Scoliosis.
• Le savali, le mautonu, malo le savali poʻo le vae e savali.
• Faoa faamalosi.
• Tupu lemu le tuputupu aʻe amata ile 5 i le 6 masina le matua.
• Leiloa o masani masani moe.
• Leiloa o gaioiga taua a le lima: Mo se faʻataʻitaʻiga, o le uʻuina e tago ai i luga ni mea laiti ua suia e le toe faia lima gaioiga pei o le uuina o lima poʻo le tuʻuina pea o lima i le gutu.
• Leiloa o fegalegaleaiga lautele.
• Faʻaauau, ogaoga le papala ma gastroesophageal reflux (GERD).
• Le lelei taʻamilosaga e mafai ona taitai atu ai i malulu ma lanumoana lima ma vae.
• Faafitauli ogaoga i le atinaeina o le gagana.

FAʻAALIGA: Faʻafitauli ma manava mamanu ono avea ma sili atu le le fiafia ma faigata faʻailoga mo matua e matamata. Aisea latou te tutupu ai ma le mea e fai e uiga ia latou e le malamalama lelei i ai. Ole tele o tagata atamamai e fautuaina le toʻafilemu o matua e ala ile manava masani e pei o le manava taofi. Atonu e fesoasoani e faʻamanatu ia te oe lava o le manava masani masani ona toe foʻi mai ma o lau tama o le a masani i le masani ai manava manava.

Ole faʻataʻitaʻiga ole genetic e mafai ona faia e suʻe ai le faaletonu ole kenera. Ae, talu ai o le le atoatoa e le o faʻailoaina i tagata uma ma faʻamaʻi, o le faʻamaoniga o le RTT e faʻavae i luga o faʻailoga.

E tele ituaiga eseʻese o RTT:

• Faʻafiafiaga
• Faʻavasega (faʻamalieina le faʻataʻitaʻiga)
• Faʻapitoa (o faʻailoga e aliali mai i le va o tausaga 1 ma le 3)

RTT ua faʻavasegaina o le faʻafefe pe afai:

• E amata vave (e leʻi leva ona fanau mai) pe tuai (ova atu i le 18 masina le matua, o nisi taimi e oʻo atu ile 3 pe 4 tausaga le matua)
• O le tautala ma faʻafitauli agavaʻa lima e agamalu
• Afai e aliali mai i se tama (seasea tupu)

Togafitiga ono aofia ai:

• Fesoasoani i le fafagaina ma le diapering
• Metotia e togafitia ai le manava manava ma GERD
• Togafitiga o le tino e fesoasoani e puipuia ai lima faʻafitauli
• Faʻamalositino ave mamafa ma scoliosis

Ole fafagaina faʻaopopo e mafai ona fesoasoani ile tuai alu. E manaʻomia se paipa fafagaina pe a manava le tamaititi i (manaʻoga) meaai. O le taumafataga maualuga i kalori ma gaʻo tuʻufaʻatasia ma fafagaina tubes mafai ona fesoasoani faʻateleina mamafa ma maualuga. O le faʻateleina o le mamafa e ono faʻaleleia atili ai le mataala ma fegalegaleaiga lautele.

Fomaʻi e mafai ona faʻaaoga e togafitia ai le faʻamaʻi. Faʻaopopo e mafai ona faʻataʻitaʻia mo le papala, mataala, poʻo maso maʻaʻa.

Stem cell therapy, naʻo oe pe o faatasi ma faʻamalositino togafitiga, o se isi faʻamoemoega togafitiga.

O kulupu nei e mafai ona tuʻuina mai ni faʻamatalaga e uiga i le Rett syndrome:

• Faʻavaomalo faʻavaomalo Rett Syndrome Foundation - www.rettsyndrome.org
• National Institute of Neurological Disorder and Stroke - www.ninds.nih.gov/Disorder/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/rett-syndrome

O le faʻamaʻi e faasolosolo lava ina tupu leaga seia oʻo i tausaga talavou. Ma, faʻailoga e ono faʻaleleia atili. Mo se faʻataʻitaʻiga, faʻalavelave faʻafuaseʻi poʻo ni faʻafitauli manava e masani ona faʻaititia i le tuai o talavou.

E tuai le atinaeina. E masani lava, o se tamaititi e iai le RTT e nofo lelei i luga, ae le mafai ona tolotolo. Mo i latou e tolotolo, e tele e faia e ala i le tosoina o latou manava e aunoa ma le faʻaaogaina o latou lima.

E faʻapena foi, o isi tamaiti e savali tutoʻatasi i totonu ole tausaga masani, ae o isi:

• Ua tuai
• Aua le aʻoaʻo e savali tutoʻatasi
• Aua le aʻoaʻo savali seia oʻo i le tuai o tamaiti poʻo le amataga o le talavou

Mo tamaiti na e aʻoaʻo savali i le taimi masani, o nisi taofia lena agavaʻa mo o latou olaga atoa, ae o isi tamaiti leiloa le tomai.

O mea e ola ai i le olaga e le lelei ona suʻesuʻeina, e ui lava o le ola pea a oʻo i le ogatotonu o le 20 e foliga mai. Ole averesi ole olaga ole olaga mo teine ​​atonu ole ogatotonu ole 40 tausaga. O le oti e masani ona faʻatatau i le faoa faamalosi, manaʻoga o le niumonia, le lava o meaʻai, ma faalavelave.

Valaʻau lau fomaʻi pe a fai o oe:

• E iai ni ou popolega e uiga i le tuputupu aʻe o lau tama
• Matau le le lava o le masani atinaʻe ma le afi poʻo le gagana tomai i lau tama
• Mafaufau i lau tama o iai se faʻafitauli tau soifua maloloina e manaʻomia togafitiga

RTT; Scoliosis - Rett syndrome; Le atoatoa le mafaufau - Rett syndrome

Kwon JM. Neurodegenerative faaletonu o tamaiti. I: Kliegman RM, Stanton BF, St.Geme JW, Schor NF, eds. Nelson Tusitusiga o Pediatrics. 20 ed. Filatelefia, PA: Elsevier; 2016: mata 599.

Mink JW. Faʻalavelave faʻafomaʻi, tuputupu aʻe, ma faʻafitauli o le neurocutaneous. I totonu: Goldman L, Schafer AI, eds. Faʻafomaʻi Goldman-Cecil. 25th lomiga. Filatelefaia, PA: Elsevier Saunders; 2016: chap 417.