Kodi Fragile X Syndrome ndi chiyani? Zimene makolo ayenera kudziwa

Kodi mwana wanu anayamba kulankhula kapena kuyenda mochedwa kuposa ana ena? Kodi amavutika kukhala pamalo amodzi? Kodi nthawi zina amagwedeza manja ake m'njira zachilendo, kapena sangathe kukuyang'anani m'maso? Ndizachibadwa kuti inu monga kholo muzichita mantha komanso kuda nkhawa mukaona zinthu ngati izi. Lero tikulankhula za matenda a majini omwe angayambitse zizindikirozi, koma sakunenedwa kwambiri m'gulu lathu. Izi zimatchedwa Fragile X Syndrome. Tiyeni tikambirane mwachidule, m'njira yomwe aliyense angamvetse.

Kodi Fragile X Syndrome ndi chiyani, mwachidule?

Mwachidule, uwu ndi matenda a majini . Izi zikutanthauza kuti, si chinthu chomwe chimachitika chifukwa cha kulakwitsa kwa wina aliyense kapena kusasamala. Ndi chinthu chomwe mwana amabadwa nacho. Matendawa amatha kukhudza kuphunzira kwa mwana, khalidwe lake, mawonekedwe ake, komanso nthawi zina thanzi lake.

Chofunika kwambiri kukumbukira apa ndichakuti anyamata nthawi zambiri amakhudzidwa kwambiri ndi vutoli kuposa atsikana. Tidzakambirana chifukwa chake pambuyo pake. Ana omwe ali ndi vutoli akhoza kukhala ndi vuto la kuphunzira komanso mavuto amisala. Komabe, tingathandize ana awa kukulitsa luso lawo lonse kudzera mu chithandizo choyenera, maphunziro apadera, ndi chithandizo .

Kodi mwana amaonetsa zizindikiro zotani pamenepa?

Mwana yemwe ali ndi Fragile X akhoza kusonyeza zizindikiro zosiyanasiyana. Ana ena angasonyeze zizindikirozi pang'ono, pomwe ena angakhudzidwe kwambiri. Tiyeni tiwone tebulo ili kuti timvetse bwino zizindikirozi.

Kodi pali kugwirizana kotani pakati pa Fragile X, Autism ndi ADHD?

Iyi ndi mfundo yofunika kwambiri. Ana ambiri omwe ali ndi Fragile X angakhalenso ndi matenda monga autism kapena ADHD (Attention Deficit Hyperactivity Disorder).

• Pafupifupi 40% ya ana omwe ali ndi Fragile X alinso ndi mwayi wokhala ndi autism .
• Ndipo pafupifupi 80% akhoza kukhala ndi ADHD kapena ADD (attention deficit hyperactivity disorder).

Ngati mwana ali ndi Fragile X komanso autism, nthawi zambiri amakhala ndi khunyu, mavuto ogona, komanso mavuto a khalidwe.

Kodi matendawa amapezeka bwanji? Kodi ndi obadwa nawo?

Inde, izi zimachitika chifukwa cha kusintha kwa majini komwe kumachitika kuchokera ku mibadwomibadwo kupita ku mibadwo. Tiyeni timvetse izi mosavuta.

Pali jini yotchedwa `FMR1` pa chromosome ya X m'thupi lathu. Ntchito yaikulu ya jini iyi ndikupanga puloteni yapadera (protein ya FMR) yomwe imathandiza maselo amitsempha muubongo wathu kulankhulana bwino. Puloteni iyi ndi yofunika kwambiri pakukula kwa ubongo.

Mwa mwana yemwe ali ndi Fragile X, kusintha kwa majini a `FMR1` kumayambitsa kupanga pang'ono kapena kusapanga konse kwa puloteni yofunikayi. Izi zimasokoneza kukula ndi kugwira ntchito kwa ubongo.

N’chifukwa chiyani anyamata amakhudzidwa kwambiri?

Tangoganizirani, mwana wamkazi ali ndi ma chromosome awiri a X (XX). Choncho ngakhale patakhala vuto mu jini ya `FMR1` pa chromosome imodzi ya X, chromosome ina yathanzi ya X nthawi zambiri imakwaniritsa vutolo. Chifukwa chake, ana aakazi amasonyeza zizindikiro zochepa kapena zochepa kwambiri.

Koma mwana wamwamuna ali ndi chromosome imodzi ya X ndi chromosome imodzi ya Y (XY). Chifukwa chake, ngati pali cholakwika mu jini ya `FMR1` pa chromosome imodzi ya X, palibe chromosome ina ya X yoti ibwezeretse vutoli. Ichi ndichifukwa chake zizindikiro za matendawa zimakhala zovuta kwambiri kwa ana aamuna.

Ngati mayi ali ndi jini yolakwika iyi, mmodzi mwa ana ake (azimayi kapena amuna) ali ndi mwayi wa 50% wolandira jiniyi. Ngati bambo ali ndi jini iyi, akhoza kungoipereka kwa ana ake aakazi.

Kodi mungazindikire bwanji vutoli?

Vutoli lingathe kuzindikirika motsimikiza kokha kudzera mu mayeso a majini. Izi zimaphatikizapo mayeso osavuta a magazi. Chitsanzo cha magazi ichi chimagwiritsidwa ntchito poyesa kusintha kwa majini a `FMR1`.

Ngakhale panthawi ya mimba, mayeso amatha kuchitidwa kuti adziwe ngati mwana ali ndi vutoli.

• Kuyeza magazi m'mimba: Kutenga madzi a amniotic pang'ono kuchokera m'mimba mwa mayi ndikuyesa.
• Kusankha kwa Chorionic Villus (CVS): Chitsanzo chaching'ono cha maselo chimatengedwa kuchokera ku placenta ndikuyesedwa.

Musanapange chisankho chokhudza mayesowa, ndikofunikira kwambiri kukambirana zabwino ndi zoyipa ndi dokotala wanu .

Kodi tingatani kuti tithandize mwanayo?

Popeza iyi ndi matenda a majini, palibe "matsenga" omwe angachiritse kwathunthu. Koma pali zinthu zambiri zomwe tingachite kuti tithetse zizindikiro za mwana, kuwathandiza kuphunzira, ndikukonza njira yopezera moyo wabwino. Chofunika kwambiri apa ndikulowererapo mwachangu momwe tingathere (kulowererapo koyambirira).

Kodi tsogolo la ana awa lidzakhala lotani?

Ili ndiye vuto lalikulu kwa makolo. Fragile X si vuto lomwe lingayambitse imfa. Nthawi yoti munthu akhale ndi vutoli ndi yofanana ndi ya munthu wathanzi.

Ndi chithandizo choyenera ndi maphunziro, anthu ambiri omwe ali ndi vutoli akhoza kukhala ndi moyo wabwino komanso wachimwemwe. Ena angafunike thandizo linalake mpaka atakula. Koma ambiri amatha kupita kusukulu, kuwerenga mabuku, kuphunzira zinthu zatsopano, kugwira ntchito, ndi kuchita zinthu okha. Chofunika kwambiri ndi kuzindikira luso la mwana ndikumuthandiza moyenera.