Kei tō tamaiti ēnei tohu? Me kōrero tātou mō te Fragile X Syndrome (FXS)

Kua kite pea koe kei te pāngia tō tamaiti e te whakaroa whanaketanga, he rerekē rānei ētahi o āna whanonga. Tērā pea kua tomuri ia ki te kōrero, kāore rānei ia e hiahia ki te whakawhanaunga ki ētahi atu tamariki. I ētahi wā, kei muri i ēnei mea, tera pea he mate e kiia nei ko te Fragile X Syndrome (FXS). Kaua e mataku ina rongo koe i tēnei ingoa. Me kōrero tātou mō tēnei mea i tēnei rā, i roto i tētahi huarahi tino māmā, āe?

He aha te Fragile X Syndrome?

He whakarāpopototanga noa iho, ko te Fragile X Syndrome he mate ira e tukuna iho ana i tētahi whakatipuranga ki tētahi whakatipuranga . Ka taea e ia te pāngia e ētahi huringa tinana, ngā raruraru whanonga, me ētahi atu raruraru hauora o te tamaiti. Hei tauira:

• Ngā whakaroa whanaketanga o te tamaiti.
• Ngā hauātanga hinengaro.
• Ngā ngoikoretanga ako.
• Te manukanuka pinepine.
• Te uaua ki te aro me te hihiko rawa, he āhuatanga e mōhiotia ana ko te mate Attention-deficit/hyperactivity disorder (ADHD).
• Tērā pea ka kitea ngā tohu o te mate autism.

Ka kiia ko "Fragile X" nā te mea ina tirohia te ira X i raro i te karuārai, ka puta tetahi wāhanga he "pakaru" he "pakaru" rānei. Ko tētahi atu ingoa mōna ko te mate Martin-Bell. Ko tētahi tēnei o ngā mate hinengaro me te whanaketanga tuku iho (IDD) tino noa.

He pēhea te noa o tēnei āhuatanga?

Kāore ngā kairangahau i te tino mōhio e hia ngā tāngata o te ao e pāngia ana e te Fragile X Syndrome, engari e whakatau ana rātou kotahi i roto i te 11,000 ngā kōtiro me te kotahi i roto i te 7,000 ngā tama ka pāngia e te mate.

He aha ngā tohu o te Fragile X Syndrome?

Ka pā te Fragile X Syndrome ki te mātauranga o tāu tamaiti, tōna hauora hinengaro, tōna āhua tinana, me ana whanonga. Me titiro tātou ki ngā tohu e kitea whānuitia ana i ia wāhi.

Ngā raruraru e pā ana ki te mātauranga

• Ngā ngoikoretanga ako: He uaua pea te ako me te maumahara ki ngā mea hou.
• Te IQ kua heke: I te kaumātuatanga o te tangata, ka paku heke pea ā rātou kaute IQ.
• Ngā tohu whanaketanga kua whakaroahia i te tamarikitanga: Hei tauira, tera pea ka roa ake te tīmatanga o te hikoi, te kōrero, me te kai takitahi i ētahi atu tamariki.
• Ngā ngoikoretanga o te whakawhitiwhiti kōrero kore-waha: Ko te tikanga o tēnei he uaua pea ki te whakapuaki i ngā whakaaro mā te whakamahi i ngā tohu ā-ringa, ngā āhua kanohi, me ētahi atu tohu kore-waha.
• Ngā raruraru ki te mārama me te kōrero i te reo:Tata ki te rua tau te pakeke, ka kite pea koe kei te raru tāu tamaiti ki te kōrero me te mārama ki ngā kupu.
• Te uaua ki te whakaoti rapanga pāngarau.

Kia tirohia te whanaketanga o tāu tamaiti mō ēnei whakaroa. He mea nui kia kōrero koe ki tō tākuta mō ngā tohu whanaketanga e tika ana mō ia tau, me pēhea hoki te aromatawai tika i aua tohu.

Ngā raruraru hauora hinengaro

• Te manukanuka pinepine.
• Ngā āhuatanga pēnei i te pouri .
• He hiahia nui ki te mahi anō, ki te whakaaro rānei ki ētahi mea (ngā whanonga ātete-tautoko).

Ngā āhuatanga ā-tinana

Kāore ēnei tohu e puta i te katoa, engari ko ētahi o ngā tohu tino kitea ko:

• He mata roa, whaiti.
• He rae nui.
• He mea nui.
• Taringa nunui.
• Ngā kanohi kua whiti (strabismus).
• Ngā maihao e tino ngāwari ana, e "honohono rua" ana rānei.
• Waewae papatahi.
• Ka nui haere ngā poro o ngā tama i muri i te pakeketanga.
• Te waha he piko teitei.
• Te korenga o te kaha o te uaua (hypotonia), arā, ka paku ngoikore pea te tinana.

He aha ngā raruraru whanonga?

Ka taea e te Fragile X Syndrome te whakararu i ngā momo raruraru whanonga i roto i te tamaiti. Hei tauira:

• Te uaua ki te aro me te hihiko rawa (ADHD).
• Te manukanuka pāpori me te whakama. Whakaarohia, ina haere koe ki tētahi pāti i te whare o tētahi whanaunga, ka noho tawhiti atu koe i ētahi atu tāngata, ka titiro ki raro ina kōrero tētahi.
• Ngā whanonga auau pērā i te papaki ringa, te ngau rānei.
• Te kore e pai ki te titiro kanohi.
• Ngā mate pārongo - Ko te tikanga tēnei ka pāngia koe e te tairongo nui ki ngā mea pēnei i ngā wāhi kīkī, te pā o tētahi ki tō tinana, te haruru, ētahi kai, me ngā papanga. I ētahi wā ka ohorere koe ahakoa te iti o te haruru, ka kī rānei koe kāore e taea e koe te kai i ētahi kai.
• He uaua ki te mārama ki ngā kare ā-roto me ngā tohu pāpori o ētahi atu tāngata.

He aha te take o te Fragile X Syndrome?

Nā te whakarerekētanga ira o te ira `FMR1` kei runga i tō tātou ira X tēnei. Mā tēnei ira `FMR1` tō tātou tinana e tohutohu kia hanga he pūmua e kiia nei ko `FMRP`. He mea tino nui tēnei pūmua `FMRP` mō te whanaketanga o ngā hononga `(synapses)` i waenga i ngā pūtau io. Mā roto i ēnei `synapses` ka haere ngā `(nerve impulses)` o ngā io.

Nā te whakarerekētanga o te ira FMR1, ka roa ake te wāhanga o te DNA e kiia nei ko te CGG triplet repeat i te mea noa. I te nuinga o te wā, ka ruaki tēnei wāhanga i te 5 ki te 40 ngā wā, engari mō te hunga whai Fragile X Syndrome, neke atu i te 200 ngā wā ka ruaki .Ka "whakamutunga" te ira `FMR1`, arā, kāore e taea e ia te hanga tika i te pūmua `FMRP`. Ka pā tēnei ki te pūnaha io o te tamaiti, ā, ka puta ngā tohu o te Fragile X Syndrome.

Me pēhea te tuku iho i tēnei i tētahi whakatipuranga ki tētahi whakatipuranga? (Tauira Tuku Iho)

Ka tukuna iho te Fragile X Syndrome i roto i te tauira matua hono-X. Ko te tikanga o tēnei kei runga i te ira X te ira kua whakarerekētia e puta ai tēnei mate. He "matua" tēnei nā te mea ahakoa kotahi te tārua o te ira kua whakarerekētia, ka nui hei take mō te mate.

He nui ake te kitea o te Fragile X Syndrome i roto i ngā tama, ā, he kino ake ngā tohu nā te mea kotahi anake te ira X o rātou. E rua ngā ira X o ngā kōtiro . Nō reira, ahakoa he whakarerekētanga ira X o tētahi, kāore pea te ira X hauora e whakaatu i ngā tohu, ā, he kaikawe ira anake pea. Heoi, ka puta tonu ngā tohu i ngā tama e whai ira X Fragile.

He aha atu anō ngā tūponotanga hauora mō te hunga e mau ana i te mate Fragile X?

Ae, he mea tino nui. Mena kei te pāngia tāu tamaiti e te Fragile X Syndrome, me kōrero koe ki tō tākuta. Nā te mea he kaikawe pea koe, tera pea he nui ake ngā mōrearea hauora kei a koe, pēnei i:

• Ka puta te menopause i mua i te 40 tau te pakeke.
• Ngā mate e pā ana ki te mahara pērā i te mate wareware.
• Te toto toto tiketike.
• Te pouri.
• Te manukanuka.
• Ngā migraines.
• Te ngoikore o te mahi a te repe tairoiti (Hypothyroidism).
• Mamae mau tonu.
• Te mate moe.

He aha ngā raruraru pea ka pā mai i te Fragile X Syndrome?

I ētahi wā ka pāngia te hunga whai Fragile X Syndrome e ētahi atu āhuatanga hauora. I roto i tētahi rangahau, i kōrero ngā mātua he pāngia anō hoki ā rātou tamariki e:

• Ngā hopukanga.
• Ngā raruraru moe. I kitea i tētahi atu rangahau e 4 i roto i te 10 ngā tamariki e pāngia ana e te mate Fragile X me te mate autism spectrum he raruraru moe, ki te whakaritea ki te 3 i roto i te 10 ngā tamariki e pāngia ana e te mate Fragile X anake.
• Te pukuriri, te riri rānei. Ko ngā tamariki e pāngia ana e te mate hinengaro Fragile X, inā koa ko te hunga e pāngia ana e te mate autism, ka nui ake te tūponotanga kia pukuriri.
• Ngā whanonga whara i a koe anō.
• Te momonatanga.

Me pēhea te tautuhi i te Fragile X Syndrome?

Hei tautuhi i te mate Fragile X Syndrome, ka tangohia he tauira DNA mai i te toto o tāu tamaiti, mai i tētahi atu kiko rānei.Ka tangohia e te tākuta te tauira ka tukuna ki te taiwhanga. I reira, ka tirohia mēnā kei roto i te tamaiti te whakarerekētanga ira kua whakahuatia ake nei i roto i te ira `FMR1`.

Mena kei te hapu koe, ā, e whakapae ana koe kei te pāngia tō tamaiti e te Fragile X Syndrome, ka taea e koe te tūtaki ki tētahi kaitohutohu ira me te whai i ngā whakamātautau hapūtanga pēnei i:

• Amniocentesis: Ko te tango i tētahi tauira o te wai amniotic i roto i te kōpū ka whakamātautau i taua tauira.
• Te tango tauira o ngā pūtau mai i te whenua kōpū: Ko te tango tauira o ngā pūtau mai i te whenua kōpū ka whakamātautau i aua pūtau.

I tehea tau ka kitea te mate nei?

Ko te nuinga o ngā tama ka kitea te mate i te 35-37 marama te pakeke . Tērā pea ka kitea te mate i muri tata mai i te 42 marama te pakeke o ngā kōtiro . Heoi, tērā pea ka kite koe i ētahi tohu i te 12 marama te pakeke.

He aha ngā pātai ka taea e te tākuta te pātai hei āwhina i te tautuhi i te mate?

I mua i te whakahau a te tākuta, te kaiwhakatakoto ira rānei a tāu tamaiti i tētahi whakamātautau Fragile X Syndrome, ka pātai pea rātou i ēnei pātai ki a koe:

• He aha ngā tohu kua kitea e koe i roto i tāu tamaiti?
• Me pēhea te ako a tāu tamaiti i ngā mea hou?
• He māia tāu tamaiti?
• He raruraru moe tō tāu tamaiti?
• Kei te āwangawanga tonu tāu tamaiti?
• Ka karohia e tāu tamaiti te titiro kanohi ki a ia?
• He āhua rerekē kei te tinana o tāu tamaiti?
• Kei te pēhea te kaha kōrero o tāu tamaiti?

Ka taea te tautuhi i te Fragile X Syndrome i te pakeketanga?

Ahakoa e kitea ana te Fragile X Syndrome i te tamarikitanga, e rua atu anō ngā mate o te whānau Fragile X e pāngia ana e ngā pakeke. Ko ēnei:

• Te mate wiri/ataxia e pā ana ki te ngoikore o te X (FXTAS): Ko ngā tohu ko ngā raruraru taurite, te wiri o ngā ringa, te koretake o te wairua, te ngaro o te mahara, ngā raruraru whakaaro, me te ngoikore o ngā peka.
• Te ngoikore o te whatukuhu tuatahi e pā ana ki te X (FXPOI): Ko ngā tohu ko te ngoikore o te momona, te uaua ki te hapu, te paheketanga koretake, te kore rānei o te paheketanga, me te menopause wawe.

Mena kei a koe ēnei tohu, he pai ake te kōrero ki te tākuta.

Me pēhea te rongoā mō te Fragile X Syndrome?

Kāore he rongoā motuhake mō te Fragile X Syndrome.Heoi, ka taea te rongoā i ngā tohu o tēnei mate. Tērā pea ka tohua e te tākuta o tāu tamaiti he maha ngā momo rongoā. Anei ētahi tauira, kua whakarōpūtia e ngā tohu:

• Te mate haurangi, te koretake rānei o te wairua:
• Ritiumu kāponāte
• Gabapentin (Neurontin®)
• Mō te ADHD:
• Methylphenidate (Ritalin®, Concerta®) me te dextroamphetamine (Adderall®, Dexedrine®)
• Venlafaxine (Effexor®) me nefazodone (Serzone®)
• Mō te mate pukuriri-ātete (OCD):
• Fluoxetine (Prozac®)
• Sertraline (Zoloft®) me te citalopram (Celexa®)
• Mō ngā raruraru moe:
• Trazodone (Desyrel®)
• Meratonīni

He rārangi poto noa iho tēnei o ngā rongoā ka tohua pea e tō tākuta. Kia mahara ki te kōrero ki tō tākuta mō ngā pānga taha me ngā raruraru pea o ia rongoā.

Haunga te rongoā, he maha ngā wā ka tūtohu te tākuta i te hinengaro hinengaro , he momo rongoā e āwhina ana i te tamaiti kia noho me te mate me te whakahaere i ā rātou whanonga.

He aha te heke mai mō te hunga e pāngia ana e te Fragile X Syndrome?

Ka taea e ētahi tāngata e pāngia ana e te Fragile X Syndrome te noho motuhake. E whakaatu ana ngā rangahau e 4 i roto i te 10 ngā kōtiro me te 1 i roto i te 10 ngā tama e pāngia ana e te Fragile X ka tipu hei tino motuhake. He nui ake te tūponotanga o ngā kōtiro i ngā tama ki te:

• Te pānui pukapuka e whai whakaaro hou ana, e whai kupu hou ana hoki.
• Te kōrero i ngā rerenga kōrero uaua.
• Te kōrero i te tere noa.

Ko te mate Fragile X he tino kino ake i roto i ngā tama. Tata ki te 8 i roto i te 20 ngā kōtiro e pāngia ana e te Fragile X kāore e hiahia āwhina ki ngā mahi o ia rā. Engari kotahi anake i roto i te 20 ngā tama e hiahia ana. Ahakoa he maha ngā kōtiro e puta ana i te kura tuarua, ko te nuinga o ngā tama kāore. Tata ki te haurua o ngā wāhine e pāngia ana e te Fragile X e mahi wā-katoa ana, engari e rua anake i roto i te 10 ngā tama e hiahia ana.

Ka taea e taku tamaiti te haere ki te whare tiaki tamariki/kura?

Ae, engari me whai wāhi motuhake pea tāu tamaiti ki te whare tiaki tamariki, ki te kura rānei. Me whakarerekē pea ētahi wāhanga o te rā kura me te akomanga kia rite ki ō rātou hiahia. Tērā pea ka taea e te kaiako o tāu tamaiti te whakarerekē i te taiao me te marautanga.

Ngā huringa e pā ana ki te taiao:

• Te pupuri i te taumata iti o te parahanga haruru.
• Te pupuri i te māramatanga taiao e wātea ana.
• Te karo i ngā wāhi kī tonu i te tangata.

Ngā panonitanga e pā ana ki te marautanga:

• Te whakamahi i ngā taputapu tirohanga pērā i ngā hoahoa, ngā whārangi tae, me ngā pikitia.
• Te āwhina i ngā tamariki ki te ako mā te whakamahi i ngā rauemi e kitea ana e rātou he tino whakamere .
• Te tohutohu i te tamaiti kia mahi i roto i ngā rōpū iti .

Kia mōhio koe ki te kura kei te pāngia tō tamaiti e te Fragile X Syndrome. Kōrero ki te kaiako mō ōna hiahia motuhake. Tērā pea ka hiahia koe ki te kite i tētahi tohunga hinengaro kura, i tētahi kaiārahi rānei. Ka mahi tahi rātou me ngā tamariki neke atu i te 3 tau te pakeke. Ko ētahi atu tohunga ka hiahia pea koe ki te whakapā atu ko:

• Ngā kaiwhakaora mahi
• Ngā kaiwhakaora whanonga
• Ngā tohunga mate kōrero-reo
• Ngā kaimahi hapori

Pātai atu ki tō kura me ngā kaiwhakarato hauora o tō rohe mō ētahi atu kōrero mō tēnei.

Kia pēhea te roa o te oranga o te Fragile X Syndrome? He aha te roanga o te oranga?

He mate mō te wā roa te Fragile X Syndrome. Kāore he rongoā motuhake mōna.

Heoi, kāore tetahi o ngā tohu o te Fragile X Syndrome e mōrearea ana ki te ora. Nō reira, he rite te roanga o te oranga o ēnei tāngata ki te tangata noa.

Ka taea te ārai i te Fragile X Syndrome?

Kāo, he mate ira te Fragile X Syndrome, ā, kāore e taea te ārai. Mena kei te whakaaro koe kia hapu, kua hapu kē rānei koe, he mea pai kia kōrero koe ki tētahi kaitohutohu ira mō te mōrearea o te tukunga iho o tēnei mate ki tāu tamaiti.

He aha te āhua o te oranga me te Fragile X Syndrome?

Kāore te Fragile X Syndrome e pā ki ia tamaiti i te huarahi kotahi. Ka taea e te tīma hauora o tāu tamaiti te hoatu ki a koe he whakaaro pai ake mō te pānga ki tāu tamaiti me tō whānau. Ahakoa he uaua ētahi āhuatanga o te mate, he maha anō hoki ngā āhuatanga pai. Hei tauira, kua kite ngā kairangahau i ngā tāngata whai Fragile X:

• He āwhina.
• Atawhai.
• Te whakaaro ki ētahi atu.
• Hoa.
• Ka taea te whakatauira pai.
• He pai te mahara tirohanga me te mahara wā-roa.
• He pai ki ahau ngā katakata, ā, he mea whakakatakata ki ahau.

Me pēhea taku āwhina i tētahi hoa/whānau e pāngia ana e te Fragile X Syndrome?

Kia mōhio ki ngā mea katoa e taea ana. Rapua ngā rōpū tautoko me ngā rauemi hapori hei āwhina i a koe me rātou. Tērā pea he tika ngā kaupapa pūkenga ora. Ko ētahi e whakarato ana i ngā aratohu mō ngā mea pēnei i:

• Ngā mahi pāpori.
• Te moe tāne.
• Ngā mahi whakangahau.
• Mātauranga.
• Ngā mahi.

He mea tino nui kia tautoko koe i tāu tamaiti kia whiwhi ai rātou i te manaaki e hiahiatia ana e rātou, kia whiwhi ai hoki i te kounga pai rawa atu o te oranga.

Āhea ahau me kawe i taku tamaiti ki te tākuta?

Kawea tāu tamaiti ki te tākuta tamariki ina kite koe i ngā tohu o te Fragile X Syndrome. Kaua e whakaroa, he mea tino nui te wawaotanga wawe.

He aha ngā pātai me pātai atu e au ki te tākuta?

Anei ētahi pātai ka taea e koe te pātai atu ki tō tākuta ina matapakihia tō mate:

• Me kite taku tamaiti i tētahi tohunga?
• He aha te momo kaiwhakaora hinengaro me toro atu taku tamaiti?
• He pēhea te kino o te Fragile X Syndrome?
• He aha te rongoā e tika ana mō taku tamaiti?
• Me pēhea taku āwhina i taku tamaiti?
• He aha aku kōwhiringa wawaotanga wawe?
• Me pēhea tātou te whānau e āwhina ai i taku tamaiti?

He uaua pea te tautuhi i te Fragile X Syndrome māu me tāu tamaiti. Koinei te tīmatanga o ngā huringa me ngā whakarerekētanga maha. Ko ngā mea pēnei i te whakaora tinana, te rongoā, me ngā whakaritenga kura kua uru inaianei ki te oranga o tāu tamaiti. I a koe e āwhina ana i tāu tamaiti, kaua e wareware ki ō ake hiahia. Kia maumahara, ko te whai tamariki me te Fragile X Syndrome he tikanga kei te nui ake tō tūponotanga ki te maha atu o ngā mate hauora, pēnei i te pouri me te migraines.

Hei whakamutunga, ngā mea hei maumahara

Nō reira, he nui ngā kōrero kua kōrerohia e tātou mō te Fragile X Syndrome i tēnei rā. Anei ētahi mea matua hei maumahara māu:

• He mate ira tēnei , arā, he mea tuku iho.
• He mea tēnei mō te wā katoa , engari ka taea te whakahaere i ngā tohumate.
• He mea tino nui mō te whanaketanga o te tamaiti te tautuhi wawe i te mate, te maimoatanga wawe, me te tīmatanga o ngā ratonga whakaora e tika ana .
• Pērā i te tamaiti, me tautoko koe. He uaua ki te aro atu ki ēnei mea ko koe anake.
• Ahakoa he wero kei roto i tēnei āhuatanga, he maha anō hoki ngā mea pai me ngā pūkenga o ēnei tamariki.

Ko tāku tumanako ka whai hua ēnei mōhiohio ki a koe. Mēnā he pātai anō āu, tēnā koa kōrero ki tō tākuta.

` te mate x pakarukaru, ngā hapa, te mate ira, te whakaroa whanaketanga, te hauātanga hinengaro, te hauora o te tamaiti, te hauātanga ako