IPitt-Hopkins Syndrome izibonakalisa njani ebantwaneni

Isifo sePitt-Hopkins

Isifo sePitt-Hopkins sibonakala nge i-neurodevelopmental, ukudodobala kwengqondo kunye nokukhula kokuphazamiseka kubuso. Kwanokuxhuzula kuxhaphakile, baneengxaki zokuphefumla, kwaye uninzi lwaba bantwana luye lusilele nokukhupha amagama asisiseko aphuma emilonyeni yabo.

Ziyacaciswa ngezi zinto ziphambili kwaye akukho nzima ukufumana olu hlobo lwesifo naphina emhlabeni. Iimpawu zezehlo zesi sifo zihlala zimela i-1 / 35.000 ukuya kwi-1 / .300.000 kunye izibonakalisa nakwesiphi na isini nakuluphi na uhlanga.

Iimpawu zePitt-Hopkins Syndrome

Iingxaki zomzimba

  • Inkangeleko yazo yomzimba ibonisa iimpawu zobuso ezahlukileyo kweziqhelekileyo. Amehlo atshonile ngakumbi kwaye amashiya amancinci kakhulu, umlomo mkhulu kakhulu ngamazinyo ahlukeneyo kunye nemilebe engqindilili, iindlebe zijiyile kwaye iipavili zimile okomityi kwaye impumlo ihlala ivakaliswa kwaye igobile.
  • Ukukhula kwayo kuhlala kuncinci, azikhuli ngokwaneleyo kubude kunye ne-microcephaly kwaye ubukhulu bentloko bungaphantsi kwepesenti ye-3.
  • Amasende aqhele ukwehla (i-cryptorchidism) kwaye kwiimeko ezininzi ihlala ifuna ukulungiswa kotyando.
  • Umqolo une-scoliosis kwaye iinyawo zihlala zineziphene ezifana tyaba, zincinci kwaye zibhityile iinyawo.
  • En umbono uneengxaki I-strabismus kunye ne-myopia zihlala zihlala zikhona.

Iingxaki zengqondo

  • Ukususela ekuzalweni kufuneka ube Ingqwalaselo eyodwa kuphuhliso lwayo, kuba ihlala ivela kancinci. Ubuchule babo njengokuhlala, ukuhamba, ukondla, ukubamba izinto, okanye nokuthetha kuthatha ixesha elide ukukhula.
  • Uninzi lwabo aluthethi kwaye abo bakwaziyo ukwenza njalo ngokwenza izijekulo okanye amabinzana amafutshane.
  • Ithoni yakho yemisipha ihlala ithotywa (hypotonia). Ihlala ibonwa kwiintsana ezihlala zinengxaki yokutya ngenxa yobunzima ekuvuseleleni izihlunu ezijikeleze umlomo.
  • Bahlala behambisa iintshukumo ngequbuliso, ikakhulu ngokuqhubeka nokushukuma kweengalo.
  • Ukulungelelaniswa kweengalo nemilenze zihlala zinobunzima, bonisa ataxia.
Isifo sePitt-Hopkins

Ifoto esuka kwi-https: //www.accesos.mx/

Kongezwe iingxaki

  • Kuxhaphake kakhulu ukuxhuzula kubantu abanePitt-Hopkins Syndrome.
  • Ukuphefumla akuqhelekanga. Bavame ukuphefumla ngokukhawuleza okanye ngokukhawuleza, beza kumisa (i-apnea). Kwezinye iimeko, kufuneka isetyenziswe ngokungaphezulu (kunye ne-hyperventilation). Umntwana kufuneka ajongwe kwimeko apho angabonisa olu hlobo lwesiganeko ekuphefumlweni kwabo, ngakumbi ukuba baphantsi koxinzelelo, ukonwaba okanye ukudinwa kakhulu.
  • Iingxaki zesisu ziqhelekile, ikakhulu ngokuqhinwa okungapheliyo. Ngokwesiqhelo kwenzeka okuninzi ebusaneni nasebuntwaneni kwaye kufuneka basebenzise amayeza ukunciphisa ingxaki. Kwezinye iimeko, kuvela i-reflux, eneentlungu, ukuba nochuku kunye nokugabha.

Unyango lwePitt-Hopkins Syndrome

Akukho lunyango kwesi sifo, kodwa kukho iindlela zokulawula iimpawu kunye neempawu. Kuba zintsana, unyango lwasemsebenzini sele lunokubandakanywa kokona kuphuhla kufanelekileyo kwiintshukumo zabo, intetho kunye nokondla.

  • Imfundo eneemfuno ezizodwa nezizimeleyo zabantwana abasaqala isikolo nabakwiminyaka yokuhamba isikolo. Olu hlobo lwemfundo luya kuncediswa yimisebenzi yonyango lomzimba, unyango lomzimba kunye nentetho ukuphucula i-hypotonia kunye neengxaki zolwimi, kunye nokukhuthaza iimvakalelo yomculo unyango okanye imisebenzi yoyilo enxulumene nomculo.
  • Ulawulo lwamayeza yeengxaki zokuphefumla ukuphazamiseka kwengqondo.
  • Unyango lokuthimba, ukuqhina, iingxaki zamathambo kunye nemibono. Baza kuncedwa ngezixhobo eziyimfuneko ekuhambeni kwabo ezinjengezihlalo ezinamavili, abahambahambayo kunye neenqwelomoya ezihamba lula.

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  1. Uxanduva lwedatha: UMiguel Ángel Gatón
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