El Isifo sePitt-Hopkins sisifo esinqabileyoKunqabile ukuba amatyala angama-50 afunyanwe emhlabeni. Ngokwenyani, akwaziwa ukuba bangaphi abantu abachaphazeleka kuyo, kuba ukwenza uvavanyo lokuqonda isifo kubiza kakhulu, yiyo loo nto sithetha ngesifo esichaphazela umhlaba wokuqala, kuba kulapha apho kuye kwakho isifo. Unobangela waziwa ngokuba yimfuza, a utshintsho de novo echaphazela uhlobo lweTCF4.
Isifo sengqondo IPitt-Hopkins sisifo se-neurodevelopmental disorder. Ibonakaliswa kukukhula kunye nokudodobala kwengqondo, okunokwahluka ukusuka kumodareyitha ukuya kubunzima. Ezinye iingxaki ezinxulumene nesi sifo ziingxaki zokuphefumla, ukuxhuzula okuphindaphindiweyo, isifo sokuwa.
Ngaba kukho ukuxilongwa kwangaphambi kokubeleka kwePitt-Hopkins syndrome?
Ukubonakala kwesifo sePitt-Hopkins akuveli kutshintsho lwemfuza olukhoyo komnye wabazali ababini. Xa iHopkins syndrome ifunyenwe ebantwaneni bobabini abazali mabavavanywe, ikakhulu ukubona ubukho be mosaicism. Amathuba olu tshintsho lwenzeka kwakhona kokunye ukukhulelwa mancinci kakhulu. Ukubakho kokuphindaphinda kusapho olunye kungaphantsi kwe-1%.
Ukuxilongwa ngaphambi kokubeleka kunokwenzeka, kodwa kuhlala kwenziwa kuphela xa isibini sele sinomntwana onesi sifo. Ukuxilongwa ngaphambi kokubeleka kwenziwa ngokwenza chorionic biopsy okanye a i-amniocentesis. Uvavanyo lokuqala lunokwenziwa kwiiveki ezili-11 zokukhulelwa kwaye uhlala unika iziphumo ezikhawulezayo. I-Amniocentesis ihlala yenziwa kwiveki ye-16 yokukhulelwa.
Ukusukela namhlanje, ukuvavanywa kovavanyo lwe I-DNA yomntwana engekazalwa ayivumeli ukuxilongwa kwizigulana ezinabantwana abanesifo sePitt-Hopkins sangaphambili.
Banjani abantwana abanePitt-Hopkins syndrome?
Ngokubanzi aba bantwana kakhulu wonwabileBanovelwano kakuhle nabantu, nangona banokubonisa ukutshintsha kwemozulu ngaphandle kwesizathu. Bahlala bengabantwana abafudukayo. Banokuqonda okungaphezulu kokunako ukubonakalisa. Kwaye uninzi lwaba bantwana alunakuthetha, kodwa basebenzisa intetho yezandla, okanye banxibelelana ngemifanekiso. Ngaba ubunzima ekucwangciseni nokulungelelanisa. Kulula ukuzibona "zibetha" zombini iingalo ukubonisa ukuvuka kwazo.
Kwamanye amaphepha athetha ngesifo sePitt-Hopkins abathetha ngaso iimpawu zobuso ezahlukileyo Njengamashiya amancinci, inentloko encinci, amehlo atshonileyo, impumlo eveleleyo enebhulorho yempumlo ephakanyisiweyo, igophe eliphindwe kabini lomlomo ongasentla, into ebizwa ngokuba sisaphetha sikaCupid, umlomo obanzi onemilebe engqindilili, kunye namazinyo ahlukeneyo. Iindlebe zihlala zingqindilili kwaye zimile okwekomityi.
Nangona kunjalo, kukho amanye amakhwenkwe kunye namantombazana andinazo ezi mpawu zahluke ngokucacileyo. Ngamanye amaxesha utshintsho lwayo alubonwa kwiinyanga zokuqala okanye kwiminyaka yobomi. Ezinye izinto ezingezozobuso zibonakala ngakumbi njengokulibaziseka ekugcineni indawo yokuhlala, ukujikajika, ukukhasa, ukuhamba ...
Unyango
Unyango kule syndrome kuxhomekeke kwiimpawu ezithile ukuba isiguli ngasinye sikhona. Ukunyanga ngokwasemzimbeni, unyango lomsebenzi, unyango lomzimba, iingcali zemithambo-luvo, iingcali zonyango zokuthetha, i-insoles kunye ne-prosthetics ziluncedo kakhulu. Utyando lunokunceda kunyango
Ihlala ikhona hypotoniaOko kukuthi, ithoni yemisipha esezantsi, yiyo loo nto ukubaluleka kwabagqirha bezonyango kwaba bantwana. Olunye utshintsho rhoqo kuku Isifo sokuwa kunye neengxaki zokuphefumla. Ngokwemeko yokuthimba, abantwana baphendula kakuhle kunyango oluqhelekileyo. Ukuphazamiseka kokuphefumla, okuhlala kuvela phakathi kweminyaka emi-5 ukuya kweli-10 ubudala, amanye amaxesha okuqala okuphefumla okulandelwa lixesha lokuphefumla. Isihloko se ukuqhina okungapheliyo, imvelaphi yayo engacacanga, ukutya okunefayibha kunye nokusetyenziswa kweziyobisi kucetyiswa.
Injongo yokunikezela nge-18 kaSeptemba kwi-Hopkins syndrome kukwazisa ngesi sifo nokuzama ukuphucula umgangatho wobomi bezigulana kunye neentsapho zazo.