Ngaba uyayazi i-PURA syndrome? Yazi ezi zinto ngekamva lomntwana wakho!

Ngaba ukhe ube nokuthandabuza okanye uloyiko malunga nokukhula komntwana wakho? Ngamanye amaxesha iintsana zifunda izinto kancinci kancinci, okanye kuvela iingxaki zempilo. Ngamaxesha anje, kunokuba yinto ebalulekileyo ukuqaphela imeko engaqhelekanga ebizwa ngokuba yi-PURA syndrome. Ukuba oku kuvakala ngathi kunzulu kancinci, ungoyiki. Masithethe ngayo ngokulula.

Yintoni i-PURA syndrome?

Ngamafutshane, i-PURA syndrome yimeko engaqhelekanga kakhulu yemfuza . Ichaphazela kakhulu inkqubo yethu yemithambo-luvo . Oko kukuthi, ingqondo kunye nemithambo-luvo zichaphazeleka kakhulu. Ngenxa yoku, uphuhliso lomntwana lunokulibaziseka ukusuka koluphakathi ukuya kolunzima . Inokubangela nokukhubazeka kokufunda. Rhoqo, abantwana abane-PURA syndrome banokuba nobunzima bokuhamba, ukuxhuzula okanye isifo sokuwa, kunye nezinye iingxaki zempilo.

Abaphandi bakholelwa ukuba oku kubangelwa lutshintsho, okanye utshintsho, kwizakhi zofuzo ezibandakanyeka ekuphuhlisweni kwengqondo kunye neeseli zemithambo-luvo (iiseli zemithambo-luvo / ii-neurons). Iintsana ezizelwe nale meko zinokuba nobunzima bokutya nokuphefumla kwizigaba zokuqala. Nangona kunjalo, ngamanye amaxesha ezi zinto ziyaphucuka emva kwexesha elithile. Nangona kunjalo, abantwana abaninzi basenokungakwazi ukuthetha okanye ukuhamba bodwa xa bekhula.

Okwangoku akukho nyango lwe-PURA syndrome. Nangona kunjalo, unyango olufanelekileyo lunokukunceda wena nomntwana wakho nilawule iimpawu kwaye ninciphise iingxaki. Ke ngoko , kubaluleke kakhulu ukuyibona le meko kwangethuba .

Ngubani onokuba nesifo se-PURA?

I-PURA syndrome yimeko yokuzalwa . Oku kuthetha ukuba le meko inokubakho xa umntu ezalwa. Ichaphazela inkqubo yemithambo-luvo. Ngamanye amaxesha, le meko inokudluliselwa ukusuka kubazali ukuya kubantwana ngee-genes. Nangona kunjalo, kubalulekile ukukhumbula ukuba umntwana unokuba ne-PURA syndrome nokuba akukho mntu kusapho lwakhe owakha waba nale meko ngaphambili . Oku kuthetha ukuba utshintsho olutsha lwe-gene lunokwenzeka.

Ziziphi ezinye iimeko ezifana nale?

Iimpawu ze-PURA syndrome zinokufana nezinye iimeko, ngoko ke ngamanye amaxesha kunokuba nzima koogqirha ukufumanisa ngoko nangoko ukuba yi-PURA syndrome. Nazi ezinye iimeko ezineempawu ezifanayo:

• `(Isifo sika-Angelman)`
• I-Congenital central hypoventilation syndrome - Esi sisifo esingaqhelekanga se-neurological esichaphazela ukuphefumla.
• I-Myotonic dystrophy - Le yiqela lezifo zenkqubo yemisipha ezibizwa ngokuba yi-muscular dystrophy.
• Izifo ezinxulumene ne-neurotransmitter - umzekelo, isifo sika-Alzheimer okanye isifo sika-Parkinson.
• Isifo sikaPitt-Hopkins - Esi sisifo esingaqhelekanga semfuza esibangela ukulibaziseka kophuhliso kunye nokuxhuzula.
• `(Isifo sikaPrader-Willi)`
• `(Isifo sikaRett)`

Ngenxa yokuba ezi mpawu zifana , kufuneka uvavanyo olukhethekileyo ukuze kufunyanwe isifo ngokuchanekileyo .

Ngaba kukho amanye amagama e-PURA syndrome?

Ewe, ngamanye amaxesha oogqirha banokuthi le meko ngamanye amagama esayensi. Kulungile ukwazi okuncinci ngayo loo nto, akunjalo? Umzekelo:

• `(Ukulibaziseka kophuhliso lwengqondo, i-autosomal dominant 31)`
• `(Ingxaki yophuhliso lwengqondo enxulumene nePURA)`
• `(Isifo se-PURA esibuhlungu kakhulu se-hypotonia-seizures-encephalopathy syndrome)`

Nangona la magama esenokubonakala entsonkothile, onke abhekisa kwimeko efanayo.

Ixhaphake kangakanani i-PURA syndrome?

I-PURA syndrome ngokwenene sisifo esingaqhelekanga . Okwangoku, abantu abadala nabantwana abangaphezu kwama-470 baxelwe ukuba banale meko kwihlabathi liphela. Khawucinge nje, bambalwa abantu abakhoyo. Icandelo lezonyango laqala ukuthetha ngesi sifo ngo-2014. Oko kuthetha ukuba sisifo esitsha.

Yintoni ubudlelwane phakathi kwe-PURA syndrome kunye nesifo sokuwa?

Abantu abaninzi abazelwe bene-PURA syndrome banomngcipheko omkhulu wokuba nesifo sokuwa . Ngamanye amaxesha esi sisifo singaba luhlobo lwesifo sokuwa esingaphenduliyo kumayeza. Oku kuthetha ukuba kunzima ukusilawula ngamayeza. Ezona ntlobo zixhaphakileyo zesifo sokuwa zii-focal seizures okanye i-generalized seizures. Ezi mpawu zihlala ziqala ebuntwaneni okanye ebuntwaneni .

Zithini izizathu ze-PURA syndrome? (ngokweenkcukacha ezithe vetshe)

Njengoko sele sithethile, imbangela ephambili ye-PURA syndrome kukuguquka kwejini ethile emzimbeni wethu ebizwa ngokuba yi-`(PURA gene)`. Le jini ye-`(PURA)` idlala indima ebaluleke kakhulu ekuphuhlisweni kwengqondo okuqhelekileyo. Ngoko ke, xa kukho isiphene kule jini, inokuchaphazela uphuhliso lweeseli zemithambo-luvo `(neurons)` kunye nokwakheka kwento ebizwa ngokuba yi-`(myelin)`. `(Myelin)` yinto egubungela imithambo-luvo yethu kwaye inceda imiqondiso ukuba ihambe ngokukhawuleza. Ngoko ke khawucinge ukuba umsebenzi wobuchopho uchaphazeleka kangakanani xa le nkqubo iphazamisekile.

Zithini iimpawu ze-PURA syndrome?

Iimpawu ze-PURA syndrome zinokuchaphazela amalungu ahlukeneyo omzimba. Abantwana abazelwe benesi simo banokukhubazeka kokufunda okuphakathi ukuya kokukhulu kunye nokulibaziseka kokukhula .

Iimpawu ezinokubonakala kwiintsana ezisandul’ ukuzalwa:

• Kudla ngokuba nobunzima bokutya okanye ukuphefumla .
• Uncedo lwezonyango (iityhubhu zokutyisa okanye zokuphefumla) lunokufuneka, kodwa iingxaki zokuphefumla zihlala ziphucuka kungekapheli nonyaka.
• Ubunzima bokutya okanye bokuginya (i-dysphagia) ngamanye amaxesha bunokuba yinto engapheliyo kwaye buqhubeke ixesha elingaphezu konyaka.

Iimpawu ezinokubonakala kubantwana abadala kancinci:

• Usenokungakwazi ukuhamba kakuhle , kwaye izakhono zakho zokunyakaza komzimba zisenokuphazamiseka.
• Nokuba uyaluqonda ulwimi, usenokungakwazi ukuluthetha .
• Nokuba bayakwazi ukuthetha, banokuthetha ngamagama okanye amabinzana amafutshane kakhulu .

Abantu abaninzi abane-PURA syndrome badla ngokuba neentshukumo zokuxhuzula (i-epilepsy) okanye ukuxhuzula. Ezi zihlala zi:

• Iqala ngaphambi kokuba ifikelele kwiminyaka emi-5 ubudala. Ingaqala ngokushukuma kwemisipha ngokungazikhetheliyo (i-myoclonus).
• Kunzima ukuyilawula .
• Ngamanye amaxesha inokuba luhlobo olunzima noluntsonkothileyo lwesifo sokuwa esibizwa ngokuba yi-"Lennox-Gastaut syndrome".

Ezinye iimpawu eziqhelekileyo ezibonakala kubantwana nakubantu abadala:

• Iingxaki zamathambo namalungu - ezifana ne-hip dysplasia kunye ne-scoliosis.
• Iingxaki zokuphefumla - ukufuthaniseka ngexesha lokulala (sleep apnea) okanye ukuphefumla kancinci, okunganzulu (hypoventilation).
• Ubunzima bokufudumala umzimba (i-hypothermia).
• Ukudinwa kakhulu kunye nokulala (hypersomnia).
• Iingxaki zamehlo - ezifana ne-strabismus.
• Ukuqhwalela rhoqo.
• Iingxaki zenkqubo yesisu - njengokuqunjelwa.
• Ithoni yemisipha ephantsi (hypotonia).
• Ukulinganisela okungazinzanga okanye ubunzima bokuhamba (ingxaki yokuhamba).
• Ukukhubazeka kokubona.

Iimpawu ezingaqhelekanga kakhulu:

• Iziphene zentliziyo.
• Iingxaki zenkqubo ye-endocrine - ezinje ngokunqongophala kwe-vitamin D okanye ukufikisa ngaphambi kwexesha.
• Iingxaki zomchamo kunye nenkqubo yokuzala.

Ifunyanwa njani i-PURA syndrome?

I-PURA syndrome inokuba nzima ukuyixilonga ngokusekelwe kuvavanyo lomzimba kuphela. Njengoko besitshilo ngaphambili, iimpawu zinokufana nezinye iimeko. Ke ngoko, oogqirha kufuneka benze uvavanyo lwemfuza ukuqinisekisa ukuba yi-PURA syndrome .

Ngokuxhomekeke kwiimpawu zomntwana wakho, ugqirha angenza nezinye iimvavanyo. Umzekelo:

• Uvavanyo lwegazi.
• Uvavanyo lokuphefumla.
• `(EEG)` (i-Electroencephalogram) - Oku kuvavanya umsebenzi wombane wengqondo.
• Uvavanyo lwamehlo.

Ukuze ufumane okungakumbi, ugqirha wakho unokuyalela uvavanyo lomfanekiso. Oku kuquka:

• Iskeni se-MRI (Magnetic Resonance Imaging).
• `(Uvavanyo lwe-Ultrasound)`.
• Uvavanyo lwe-`(X-ray)`.

Ngaba ikho indlela yokunyanga isifo se-PURA?

Le yeyona ngxaki inkulu kubantu abaninzi. Inyaniso kukuba, okwangoku akukho nyango lupheleleyo lwe-PURA syndrome.Nangona kunjalo, ukufunyanwa kwangoko kunye nonyango kunokunciphisa umngcipheko weengxaki ezifana ne-scoliosis. Oogqirha banokucebisa unyango olunokukunceda wena nomntwana wakho nilawule iimpawu. Ngonyango olufanelekileyo, umntwana wakho unokuthatha inxaxheba kwimisebenzi emininzi kangangoko kunokwenzeka kwaye enze ubomi bube lula kancinci .

Ngubani onokufakwa kwiqela lonyango lwe-PURA syndrome yomntwana wakho?

Ukuba umntwana wakho une-PURA syndrome, iqela lezonyango elimnyangayo lingabandakanya iingcali ezahlukeneyo. Oku kuthetha ukuba akukho gqirha mnye kuphela, kodwa kukho abantu abaninzi abasebenza kunye ukubonelela ngonyango olungcono kumntwana wakho. Iqela elinjalo lingabandakanya abantu abafana naba:

• Ingcali yamehlo.
• Ingcali yemfuza.
• Ugqirha ochwephesha kwinkqubo yemithambo-luvo (ingcali yemithambo-luvo).
• Ingcali yezonyango emsebenzini - umntu onceda ngemisebenzi yemihla ngemihla.
• Ugqirha wamathambo.
• Ugqirha wezingane.
• Ingcali yezonyango ngumntu onceda ngezinto ezifana nokuhamba nokuhamba.
• Ugqirha ochwephesha kwinkqubo yokuphefumla (i-pulmonologist).
• Ingcali yezifo zolwimi lokuthetha.

Bonke aba bantu basebenzisana ukwenza isicwangciso sonyango esifanela imeko yomntwana.

Inyangwa njani i-PURA syndrome?

Unyango lwe-PURA syndrome luyahluka ngokuxhomekeke kwiimpawu zomntwana kunye nobunzima bazo . Ukuba umntwana osandul' ukuzalwa une-PURA syndrome, kuya kufuneka abekwe esweni esibhedlele aze anikwe uncedo lokutya nokuphefumla.

Abantwana abadala badla ngokuphathwa ngolu hlobo:

• Unyango lwentetho nolwimi - Phucula izakhono zonxibelelwano.
• Unyango lomzimba - Ukuphucula ukuhambahamba.
• Kwezinye iimeko, utyando lunokwenziwa ukulungisa iingxaki zobuso, zentliziyo, zamathambo, okanye ezinye iingxaki.

Unganika umntwana wakho izinto ezifana nezi:

• Amayeza okuthintela ukuxhuzula.
• Izixhobo zonxibelelwano.
• Inkxaso yokutya okanye yokuginya.
• Unyango lomzimba nolwemisebenzi.
• Unyango lwentetho nolwimi.
• Izixhobo zokuncedisa - ezinje ngee-adaptive strollers, ii-braces, ii-orthotics, ii-walker, okanye izitulo ezinamavili.

Ndingenza ntoni ukunciphisa umngcipheko wokuba umntwana wam abe ne-PURA syndrome?

Le yinto abazali abaninzi abayicingayo. Kodwa inyani yile, akukho ndlela yokuthintela isifo se-PURA . Kwakhona,Ayibangelwanga yinto oyenzayo. Ibangelwa lutshintsho lwemfuza (iinguqu) ezenzeka ngexesha lokukhula komntwana ongekazalwa. Ngoko ke musa ukuziva unetyala ngaloo nto.

Iyintoni imbono yomntwana one-PURA syndrome?

Isifo se-PURA sisifo esingapheliyo ubomi bonke . Abantwana abaninzi banokuba neengxaki zokufunda eziphakathi ukuya kwezinzima kunye nokulibaziseka kokukhula. Abaninzi basenokungakwazi ukuthetha okanye ukuhamba bodwa . Nangona kunjalo, khumbula ukuba unyango olusebenzayo lunokunika umntwana wakho ubomi obungcono . Ngonyango, nabo banokonwaba baze baphuhle ngokupheleleyo.

Ndifanele ndifune nini ingcebiso kagqirha kumntwana wam?

Ukufunyanwa kwangoko kwe-PURA syndrome kubalulekile ukulawula iimpawu nokunciphisa umngcipheko weengxaki . Oogqirha banokwenza uhlolo rhoqo ukuze bahlole impilo yomntwana wakho kunye neempawu zakhe. Ugqirha wakho uya kukunceda uphuhlise isicwangciso sokhathalelo oluhambelana neemfuno kunye neenjongo zomntwana wakho.

Kuqhelekile ukuziva uxinezelekile kwaye uxhalabile xa ufumana isifo esifana ne-PURA syndrome. Esi sisifo esingaqhelekanga semfuza esichaphazela inkqubo yemithambo-luvo, esibangela ukukhubazeka okukhulu kokufunda, ukulibaziseka kokukhula, kwaye sidla ngokuba nesifo sokuwa. Nangona kunjalo, ngokudibanisa unyango olufanelekileyo, umntwana wakho unokuba nobomi obungcono . Thetha nogqirha wakho malunga nonyango olusebenzayo olunokwenza umahluko njengoko umntwana wakho ekhula. Awuwedwa , kwaye kukho oogqirha, abagqirha bezonyango, kunye nabanye abaninzi abanokukunceda kolu hambo.

Okokugqibela, ezona zinto zibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Nangona i-PURA syndrome sisifo esingaqhelekanga esibangelwa yimfuza, kubaluleke kakhulu ukuba siqaphele.

• Oku kuchaphazela kakhulu inkqubo yemithambo-luvo kwaye kunokubangela iimeko ezifana nokulibaziseka kokukhula, ukukhubazeka kokufunda, kunye nesifo sokuwa.
• Ukuchongwa kwangoko kunye nokuqaliswa konyango olufanelekileyo kunceda kakhulu ekuphuculeni umgangatho wobomi bomntwana.
• Nangona kungekho nyango lupheleleyo loku, kukho iindlela ezahlukeneyo zonyango zokulawula iimpawu nokunciphisa iingxaki .
• Iqela loogqirha abavela kwiingcali ezahlukeneyo lisebenzisana ukubonelela umntwana ngonyango olufunekayo.
• Akukho ndlela yokuthintela le meko ukuba ingenzeki, kwaye njengabazali, akufuneki nizive ninetyala ngayo .
• Ukuba unenkxalabo malunga nophuhliso okanye impilo yomntwana wakho, ungoyiki kwaye ufune ingcebiso kagqirha ngoko nangoko . Leyo yeyona nto ilungileyo onokuyenza.

Khumbula, wonke umntwana uxabisekile, kwaye wonke umntwana ufanelwe luthando kunye nenkathalo engcono.

"Isifo sePURA, izifo zofuzo, inkqubo yemithambo-luvo, ukulibaziseka kokukhula, isifo sokuwa, impilo yomntwana, izifo ezingaqhelekanga