He aha te Mate o Angelman? Tohutohu, Take, me te Maimoatanga

Ko te mate o Angelman he ahuatanga tuku iho onge e pa ana ki te whanaketanga o to pūnaha io, e puta ai te korenga o te hinengaro me nga raruraru ki te nekehanga me te taurite. Ka puta tenei ahuatanga ina he raruraru kei tetahi ira motuhake e kiia nei ko UBE3A, he mahi nui ki te huarahi e korero ai o ngā pūtau roro ki a rātou anō.

Tata ki te 1 i roto i te 12,000 ki te 20,000 te hunga e whānau ana me te mate o Angelman. Ahakoa he ahuatanga ora tonu tenei e kawe mai ana i nga wero motuhake, he maha nga whānau e kimi ana i ngā huarahi hei awhina i ō rātou aroha kia ora ai ngā oranga whai hua me te tautoko me te tiaki tika.

He aha ngā tohu o te mate o Angelman?

Ko ngā tohu o te mate o Angelman ka kitea i te tau tuatahi o te oranga o tō pēpi, ahakoa ka kore pea e puta etahi tohu tae noa ki muri i te tamarikitanga. Ko ēnei tohu e pā ana ki te whanaketanga o tō tamaiti, te nekehanga, me te whakawhitiwhiti kōrero.

Ko ēnei ngā tohu tino noa ka kitea e koe:

• Te whakaroa o te whanaketanga i te noho, te ngāwari, me te hikoi
• Te iti rānei te kōrero, ahakoa he pai ake te mārama i te kaha ki te kōrero
• Te kata me te ataata maha, i etahi wā kahore he take mārama
• Te papaku ringa, ina koa ka koa
• Nga raruraru hikoi, tae atu ki nga nekehanga pakari, ranei te wiri
• Nga hopu, e pā ana ki te 80% o te hunga e pangia ana e te ahuatanga
• Nga raruraru moe me te iti o te moe i te tikanga
• Te hiahia ki te wai me te whakamiharo ki ngā rauemi kōkō, penei i te kirihou

Ko ngā tohu onge ka uru mai he upoko iti, te arero e puta ana, te ngau, me ngā raruraru kai i te wā o te whānau. Ka whanake etahi tamariki i te scoliosis, ranei he raruraru kanohi penei i te kanohi kōwhiti.

Ko te mea nui kia mahara ko ia tangata e pangia ana e te mate o Angelman he motuhake. Ahakoa he noa ēnei tohu, ka wheako pea tō tamaiti i etahi atu i ētahi atu, a ka rerekē te kaha mai i te tangata ki te tangata.

He aha ngā take o te mate o Angelman?

Ka puta te mate o Angelman nā ngā raruraru ki te ira UBE3A, kei te kāromiti 15. Ko te tikanga o tenei ira te hanga i te pūmua e awhina ana i ngā pūtau roro kia mahi tika, ina koa i ngā wāhi e whakahaere ana i te ako, te kōrero, me te nekehanga.

Ka puta te ahuatanga i roto i te maha o ngā huarahi rerekē:

• Te mukua o te kāromiti 15 o te whaea (e pā ana ki te 70% o ngā keehi)
• Ngā whakarerekētanga i roto i te ira UBE3A anō (tata ki te 11% o ngā keehi)
• Ngā raruraru ki te whakairoiro ira, kei hea te ira ka 'whakaweto' he (tata ki te 3% o ngā keehi)
• Te uniparental disomy o te matua, kei hea e rua ngā kape o te kāromiti 15 e puta mai ana i te matua, kaua i te kotahi mai i ia mātua (tata ki te 7% o ngā keehi)

I te nuinga o ngā keehi, ka puta te mate o Angelman i te wa o te hanganga o ngā pūtau whakauru, ranei i te tīmatanga o te whanaketanga o te peepi. Ko te tikanga, kaore i tukuna mai i ngā mātua, ā, kahore he mea ka taea e koe te mahi rerekē hei aukati i taua mea.

Heoi, i ngā keehi onge kei reira te whakarerekētanga kāromiti i roto i tetahi mātua, ka nui ake pea te tūpono o te whānau i tētahi atu tamaiti me te ahuatanga. Ka taea e tō kaiwhakaako ira te whakamārama i tō āhuatanga motuhake.

Nōhea koe me haere ki te taote mō te mate o Angelman?

Me kōrero koe ki tō tākuta pēpi mena ka kite koe kua whakaroa nui tō pēpi, tamaiti rānei ki te tae atu ki ngā tohu whanaketanga. Ko ngā tohu tīmatanga e hiahia ana ki te toro atu ki te taote ko te kore e noho i te 12 marama, te kore e hikoi i te 18 marama, te iti rānei te kōrero i te tau 2.

Ko ētahi atu take nui hei kimi i te tiaki hauora ko ngā hopu maha, ngā raruraru moe nui, te kite rānei i tō tamaiti i te huinga tohu o te whakaroa whanaketanga me te kata koa me te papaku ringa. I etahi wa ka kite ngā mātua kei te mārama ake tō rātou tamaiti i te mea ka taea e rātou te whakaatu, ko tētahi atu tohu o te ahuatanga.

Kaua e tatari mena kei te manukanuka koe mō te whanaketanga o tō tamaiti. Ka taea e ngā ratonga whakauru wawe te whakarereke nui ki te awhina i tō tamaiti ki te tae atu ki tōna kaha, ahakoa i mua i te whakatau i te mate.

He aha ngā take tūpono mō te mate o Angelman?

Ko te nuinga o ngā keehi o te mate o Angelman ka puta noa iho, ko te tikanga kaore he take tūpono motuhake e whakanui ana i ō tūpono ki te whānau i tētahi tamaiti me tenei ahuatanga. Ka pā te mate ki ngā rōpū iwi katoa, ā, ka puta ki ngā tama me ngā kōhine i te tau kotahi.

Ko te pakeketanga o te whaea kaore he take tūpono mō te mate o Angelman, kaore i rite ki ētahi atu ahuatanga tuku iho. I te nuinga o ngā whānau, kahore he hītori whānau o te ahuatanga, ā, he noa ngā kāromiti o ngā mātua.

Ko te āhuatanga anake kei reira pea te tūpono nui ake ko te kawe mai e tetahi mātua i te whakarerekētanga kāromiti rite kei te kāromiti 15. He onge rawa tenei, ā, ka kitea noa i te whakamātautau ira i muri i te whānau i tētahi tamaiti me te mate o Angelman.

He aha ngā raruraru pea o te mate o Angelman?

Ahakoa he ahuatanga ora tonu te mate o Angelman, ko te mārama ki ngā raruraru pea ka taea te awhina i a koe ki te whakarite me te kimi i te tiaki tika ina hiahiatia. Ka taea te whakahaere pai i te nuinga o ēnei take me te tautoko hauora tika.

Ko ngā raruraru tino noa ko ēnei:

• Ngā hopu, ka taea te iti ki te nui, ā, ka hiahia pea ki te rongoā tonu
• Ngā raruraru kai i te wā o te whānau, i etahi wā ka hiahia ki ngā tikanga kai motuhake
• Ngā mate moe, tae atu ki te raruraru ki te moe me te oho maha i te pō
• Scoliosis (te tuaiwi kōwhiti), ka hiahia pea ki te tirotiro, ki te maimoatanga rānei
• Te korenga o te whakaheke, i te nuinga o te wā ka hiahia ki ngā whakarerekētanga kai, ki te rongoā rānei
• Te hyperactivity me ngā raruraru aro

Ko ngā raruraru onge ka uru mai ngā raruraru kanohi penei i te strabismus (kanohi kōwhiti), ngā take niho, ā, i etahi wā, ngā raruraru ki te whakahaere i te pāmahana. Ka wheako pea etahi tangata i te gastroesophageal reflux, ka pā pea ki te kai me te whakamarie.

Ko te rongo pai ko te nuinga o te hunga e pangia ana e te mate o Angelman he ora roa. Me te tiaki hauora me te tautoko tika, ka taea te whakahaere pai i te nuinga o ngā raruraru, e tuku ana i ngā tangata kia ora ai ngā oranga harikoa, whai wāhi ki roto i ō rātou whānau me ngā hapori.

Me pēhea te whakatau i te mate o Angelman?

Ko te whakatau i te mate o Angelman ka uru mai te whakamātautau ira, engari ko te tukanga ka tīmata i tō taote e tirotiro ana i te whanaketanga o tō tamaiti me ngā tohu. Kahore he whakamātautau kotahi e taea te whakau i te mate tonu, no reira ka hiahia pea ki te whakakotahi i te aromatawai hauora me te whakamātautau motuhake.

Ko tō taote tuatahi ka mahi i te tirotiro tinana tino pai, ka arotake i te hītori whanaketanga o tō tamaiti. Ka titiro rātou ki ngā āhuatanga tohu penei i te whakaroa whanaketanga, ngā raruraru nekehanga, me te āhua koa noa me te kata maha.

Ko te tukanga whakamātautau ira ka uru mai:

1. Te whakamātautau methylation DNA, ka taea te kite i te 80% o ngā keehi
2. Te tātaritanga microarray kāromiti hei titiro ki ngā mukua
3. Te raupapa ira UBE3A mena he noa ngā whakamātautau atu engari he tohu kaha te ahuatanga
4. Ngā whakamātautau motuhake atu i etahi wā

Ka roa pea te tiki i te whakatau, ā, ka hiahia pea koe ki te kite i te maha o ngā tohunga, tae atu ki ngā tohunga ira, ngā tohunga neurology, me ngā tohunga pēpi whanaketanga. Ka taea e tenei tukanga te ahua uaua, engari ka awhina ia kaupae ki te hanga i tētahi whakaahua mārama ake o ngā hiahia motuhake o tō tamaiti.

He aha te maimoatanga mō te mate o Angelman?

Ahakoa kahore he rongoā mō te mate o Angelman, he maha ngā maimoatanga me ngā rongoā ka taea te whakapai ake i te kounga o te ora, ā, ka awhina i ngā tangata ki te tae atu ki tō rātou kaha katoa. Ko te aro o te maimoatanga ki te whakahaere i ngā tohu me te tautoko i te whanaketanga i ngā wāhi maha.

Ko ngā huarahi maimoatanga matua ko ēnei:

• Te rongoā tinana hei whakapai ake i te kaha, te taurite, me te nekehanga
• Te rongoā mahi hei whanaketanga i ngā pūkenga ora o ia rā
• Te rongoā kōrero me te tautoko whakawhitiwhiti kōrero, i te nuinga o te wā ka uru mai ngā tikanga whakawhitiwhiti kōrero atu
• Ngā rongoā anti-hopu mena kei reira ngā hopu
• Ngā rongoā moe, ngā tikanga whāinga rānei mō ngā raruraru moe
• Te tautoko mātauranga me ngā kaupapa ako motuhake

He maha hoki ngā whānau e kite ana i te rongoā whāinga hei awhina mō te whakahaere i te hyperactivity me ngā take aro. Ka whai hua etahi tangata i ngā taputapu orthotic hei awhina i te hikoi, ā, i ngā keehi o te scoliosis nui, ka tūtohu pea te whakauru pokanga.

Ko te matua ko te mahi tahi me te rōpū o ngā tohunga e mārama ana ki te mate o Angelman. Ka uru pea tenei ki ngā tohunga neurology, ngā tohunga pēpi whanaketanga, ngā tohunga rongoā tinana, ngā tohunga kōrero, me ngā tohunga mātauranga motuhake ka taea te hanga i tētahi mahere tiaki whānui e rite ana ki ngā hiahia motuhake o tō aroha.

Me pēhea te whakarato i te tiaki tautoko i te kāinga?

Ko te hanga i tētahi taiao kāinga tautoko ka taea te whakarereke nui ki te whakamarie o ia rā o tō aroha me te whanaketanga. He maha ngā whānau e whānau ana i ngā mahi me ngā rautaki e mahi pai ana mō tō rātou āhuatanga motuhake.

Ko ēnei ētahi huarahi e awhina ana i te nuinga o te wā:

• Te whakatū i ngā mahi o ia rā, ina koa i te wā kai me te wā moe
• Te whakamahi i ngā kaupapa tirohanga me ngā papa whakawhitiwhiti kōrero hei tautoko i te mārama
• Te hanga i tētahi taiao haumaru mō te torotoro, i te mea he maha ngā tangata e hiahia ana ki te wai me ngā mea iti
• Te whakarato i ngā wheako pūāhua e pai ana ki a rātou, penei i te waiata, ngā rauemi āhua, te nekehanga ngawari rānei
• Te mahi i ngā pūkenga whakawhitiwhiti kōrero ngāwari i ngā mahi o ia rā
• Te whakatenatena i te mahi tinana e rite ana ki tō rātou taumata nekehanga

Ka uaua pea te moe, no reira he maha ngā whānau e whai hua ana i ngā kāpeti pouri, te haruru ma, me ngā mahi moe mau tonu. Ka whai hua pea etahi tangata e pangia ana e te mate o Angelman i ngā whāariki taumaha, i ētahi atu taputapu pūāhua whakamarie rānei.

Kia mahara ko ia kaupae iti ki mua he whai hua. Ko te whakanui i ngā whakatutukitanga, ahakoa he iti pea te ahua, ka awhina i te hanga i tētahi taiao pai e tautoko ana i te tipu me te harikoa tonu.

Me pēhea te whakarite mō ngā whakatau a te taote?

Ko te whakarite mō ngā whakatau hauora ka taea te awhina i a koe ki te whakamahi pai i tō wā me ngā kaiwhakarato hauora, ā, kia whakarite ai koe i ngā mōhiohio me te tautoko e hiahia ana koe. Ka taea hoki e te whakarite pai te whakaiti i te ahotea mōu me tō aroha.

I mua i tō whakatau, kohikohia ngā mōhiohio nui penei i te rārangi o ngā rongoā o nāianei, ngā whakarerekētanga hou i ngā tohu, i te whāinga rānei, me ngā pātai e hiahia ana koe ki te ui. Kia mau ki tētahi tātaritanga poto o ngā hopu, ngā tauira moe, i ētahi atu tohu rānei e manukanuka ana mena he take tonu ēnei.

Whakaarohia te kawe mai:

• He rārangi o ngā rongoā me ngā rongoā katoa o nāianei
• Ngā ataata hou o ngā whāinga, tohu rānei e manukanuka ana
• Ngā ripoata kura, ngā tuhinga whakahaere rongoā rānei
• He rārangi o ngā pātai e whakaritea ana e te nui
• He mema whānau, hoa rānei e whakawhirinaki ana mō te tautoko

I te wā o te whakatau, kaua e whakaroa ki te tono mō te whakamārama mena he whakapohehe ngā kupu hauora. Ko te nuinga o ngā taote e mihi ana ina tae mai ngā whānau kua whakaritea, kua uru atu ki te tukanga tiaki.

He aha te mea nui mō te mate o Angelman?

Ko te mate o Angelman he ahuatanga tuku iho uaua e pā ana ki te whanaketanga, ā, e hiahia ana ki te tautoko tonu, engari he mea nui kia mahara ka taea e te hunga e pangia ana e tenei ahuatanga te ora i ngā oranga whai hua, harikoa. Ko te harikoa me te āhua pāpori o te nuinga o ngā tangata e pangia ana e te mate o Angelman i te nuinga o te wā ka kawe mai i te harikoa whakahihiri ki ngā whānau me ngā hapori.

Ahakoa ka taea e te whakatau te ahua uaua i te tīmatanga, ko te hono atu ki ētahi atu whānau, ngā rōpū hauora, me ngā rōpū tautoko ka taea te whakarato i ngā aratohu me te tumanako whai hua. Ka taea e te whakauru wawe me ngā rongoā tonu te whakarereke nui ki te awhina i ngā tangata e pangia ana e te mate o Angelman ki te whanaketanga o ō rātou kaha me te whakawhitiwhiti i ō rātou hiahia.

Ko te matua ko te aro ki ngā kaha motuhake o tō aroha me te whakanui i te whakahaere, ahakoa he iti pea te tere. Me te tautoko tika, te tiaki hauora, me te taiao aroha, ka taea e te hunga e pangia ana e te mate o Angelman te wheako i ngā oranga whai hua, whai kiko e kīia ana e te hononga me te harikoa.

Ngā pātai maha e ui ana mō te mate o Angelman

Ka taea e taku tamaiti e pangia ana e te mate o Angelman te hikoi?

Ko te nuinga o ngā tamariki e pangia ana e te mate o Angelman ka ako ki te hikoi, ahakoa ka puta i muri i te tikanga, ā, ka rerekē pea te ahua o te hikoi. Ka hikoi motuhake etahi tamariki i te tau 2-3, kaore etahi atu e hikoi tae noa ki te tau 4-7, i muri atu rānei. Ka taea e te rongoā tinana te awhina nui ki te whakapai ake i ngā pūkenga nekehanga me te taurite i te wā.

Ka taea e te hunga e pangia ana e te mate o Angelman te whakawhitiwhiti kōrero?

Ahakoa he iti rawa te kōrero o te nuinga o te hunga e pangia ana e te mate o Angelman, ka mārama pea rātou i te nui atu i te mea ka taea e rātou te whakaatu i te kupu. He maha ka ako ki te whakawhitiwhiti kōrero pai ma ngā tohu, ngā papa pikitia, te reo tohu, i ngā taputapu whakawhitiwhiti kōrero hiko rānei. Ko tō rātou reo whakawhiwhi (te mārama) he pai ake i tō rātou reo whakaatu (te kōrero).

Ka kino ake ngā hopu i te mate o Angelman i te wā?

He noa ngā hopu i te mate o Angelman, e pā ana ki te 80% o ngā tangata, engari kaore pea e kino ake i te wā. Ko te tikanga, ka iti haere ngā hopu, ā, ka ngāwari ake te whakahaere i te wā e pakeke ana ngā tamariki, ina koa me te rongoā tika. He maha ngā tangata e kite ana ka iti haere te manukanuka mō ngā hopu i te wā o te tauira me te pakeke.

I tukuna mai rānei te mate o Angelman i ngā mātua?

I te nuinga o ngā keehi, ka puta noa iho te mate o Angelman, ā, kaore i tukuna mai i ngā mātua. Ko te 90% o ngā keehi he whakarerekētanga ira hou e puta ana i te hanganga o ngā pūtau whakauru, i te wā haputanga rānei. I ngā keehi onge anake e pā ana ki ngā whakarerekētanga kāromiti pea ka nui ake te tūpono mō ngā haputanga kei te heke mai.

He aha te roa o te ora mō te tangata e pangia ana e te mate o Angelman?

Ko te nuinga o te hunga e pangia ana e te mate o Angelman he roa o te ora noa, tata noa rānei. Ahakoa ka kawe mai te ahuatanga i ngā wero e hiahia ana ki te tautoko tonu me te tiaki hauora, kaore i te poto rawa te ora. He maha ngā pakeke e pangia ana e te mate o Angelman e ora ana tae noa ki ō rātou tau koroheke, ina koa me te tiaki hauora pai me te tautoko whānau.