Pitt-Hopkins Syndrome tana da halin a ci gaban jiki, raunin hankali da rikicewar ci gaban fasali. Ko da kamuwa suna yawan yi, suna da matsalar numfashi, kuma da yawa daga cikin waɗannan yara ma sun kasa furta kalmomin asali daga bakinsu.
An bayyana su ta waɗannan manyan sifofin kuma ba abu mai wuya a sami irin wannan cutar ba a ko'ina cikin duniya. Abubuwan da ke faruwa na wannan cutar yawanci suna wakiltar 1 / 35.000 zuwa 1 / .300.000 kuma tana bayyana kanta a cikin kowane jinsi da kuma kowace kabila.
Alamar halayen Pitt-Hopkins Syndrome
Matsalolin jiki
- Kamanninsu na zahiri suna gabatar da fuskoki daban da na yau da kullun. Idanu sun fi ruɓewa kuma gira sunada siriri ƙwarai, bakin ya fi girma da hakora masu yalwa da leɓɓa masu kauri, kunnuwa sun fi kauri kuma rumfuna masu kamannin kofi kuma yawanci ana bayyana hanci da lanƙwasa.
- Girmanta yawanci karami ne, basa girma sosai a cikin tsayi da microcephaly kuma girman kan yana ƙasa da kashi na 3.
- Yawanci ba kasafai ake sauka ba (cryptorchidism) kuma a cikin lamura da yawa galibi yana buƙatar gyaran tiyata.
- Kashin baya yana da scoliosis kuma ƙafafu galibi suna da nakasa kamar lebur, karami da sirara ƙafa.
- En gani yana da matsaloli na strabismus da myopia yawanci sosai m.
Matsalar psychomotor
- Daga haihuwa dole ne ka samu ba da hankali na musamman ga ci gabanta, saboda yana saurin faruwa a hankali. Abilitieswarewarsu kamar su zaune, tafiya, ciyarwa, abubuwan da suke damun su, ko ma magana suna ɗaukar lokaci mai tsawo don haɓaka.
- Yawancinsu basa samun damar yin magana kuma waɗanda suka sami damar yin hakan suna yin ta ne ta hanyar ishara ko gajerun jimloli.
- Sau da yawa ana saukar da sautin tsoka (hypotonia). Yawancin lokaci ana lura da shi a cikin jarirai waɗanda ke fuskantar matsalar cin abinci saboda samun matsala wajen tattaro tsokokin da ke kewaye da bakin.
- Suna yawan gabatar da motsi kwatsam, galibi tare da ci gaba da girgiza makamai.
- A cikin daidaituwa da makamai da ƙafafu yawanci suna da matsaloli, nuna ataxia.
Hoto daga https://www.accesos.mx/
Problemsara matsaloli
- Kamewa ta zama gama gari a cikin mutanen da ke fama da cutar Pitt-Hopkins.
- Numfashi ba al'ada bane. Suna da numfashi da sauri ko a hankali, suna zuwa tasha (apnea). Don wasu lokuta, dole ne a yi amfani da shi sama-sama (tare da haɓakawa). Dole ne a lura da yaro idan zasu iya gabatar da irin wannan lamarin a cikin numfashin su, musamman idan sun kasance cikin halin damuwa, tashin hankali ko tsananin gajiya.
- Matsalar ciki ta gari ta zama ruwan dare, yawanci tare da maƙarƙashiya na kullum. Yana yawanci faruwa sosai a yarinta da yara kuma dole ne suyi amfani da magunguna don rage matsalar. A wasu lokuta, reflux yana bayyana, tare da ciwo, rashin hankali da amai.
Jiyya don cutar Pitt-Hopkins
Babu magani ga wannan ciwo, amma akwai hanyoyin da za a iya sarrafa alamu da alamomin. Tunda su jarirai ne, tuni ana iya haɗa magungunan kwantar da aiki don mafi kyawun ci gaba a cikin motsi, magana da ciyarwa.
- Ilimi na musamman da na keɓaɓɓu don makarantan nasare da yara masu zuwa makaranta. Irin wannan ilimin zai kasance tare da ayyukan motsa jiki, maganin jiki da magana don inganta hypotonia da matsalolin harshe, da motsa hankali tare da music far ko ayyukan kirkira masu alaƙa da kiɗa.
- Gudanar da magani don matsalolin numfashi matsalolin rashin lafiya.
- Jiyya don kamuwa, maƙarƙashiya, ƙashin kafa da matsalolin gani. Za a taimaka musu da kayan aiki masu mahimmanci don motsi kamar kujerun guragu, masu tafiya da abin hawa masu dacewa.