Xa iPhelan-McDermid Syndrome ikhula ebantwaneni

Isifo sePhelan-McDermid

Isifo sePhelan-McDermid izipho "njengesifo esinqabileyo" kunye inxulunyaniswa nokukhubazeka kwengqondo okanye ukuphazamiseka kwi-autism. Esi sifo sichaphazela phakathi kwabantu abangama-2.500 5.000 ukuya kuma-XNUMX XNUMX eSpain, sisazi ukuba uninzi luye lwafunyanwa ezibhedlele liqela leengcali.

I-Chelan McDermind Syndrome sisifo esingaziwayo kwaye kunzima ukusichonga Kuvavanyo lwabo lokuqala, ezi ngcali kuphela, kuvavanyo olwahlukeneyo kunye nolawulo olulandelayo lwezonyango, olufikelela kwesi sifo. Eyona nto iphambili eyenzekayo kukutshintsha kwe-chromosome 22 kwaye kumntwana ngamnye ikhula ngokwahlukileyo.

Yintoni iPhelan-McDermid Syndrome?

Esi sifo sibonakaliswa utshintsho lwe-chromosome 22q13 kubangelwe kwiimeko ezininzi ngu ukungabikho okanye ukuguqulwa kohlobo lwe-SHANK3, ekulahleka ngayo izinto zemvelo ukusuka esiphelweni chromosome 22.

Ukuphulukana nale nto yemfuza kwenzeka ngexesha lokwahlukana kweseli. Okwangoku ii-chromosomes kufuneka zilungelelanise kwaye zilungelelanise, ezinye zazo ziyaqhekeka zize zinyamalale. Indlela eyenzeka ngayo le nkqubo ayinasiseko sinenkcazo eqinileyo, kwaye ayisiyofuzo.

Iimpawu eziphambili zePhelan-McDermid

Ngaphandle kokungabikho kohlobo lwe-SHANK3, uninzi lwabantwana lukhulisa i-hypotonia, ithoni yemisipha esezantsi kwaye emva koko unayo ukulibaziseka kwindawo yophuhliso lwe-neurodevelopment, echaphazela uninzi lwabo kulwimi. Uninzi lwazo lune-autism.

Ukuphuhliswa kwayo kuwo onke amabakala kuyavela ngokulibaziseka Kwaye njengoko besitshilo kukho ukungabikho kwentetho okanye ukulibaziseka ekwenzeni kwayo. Ubukrelekrele bakho buya kuphuhla emva kwexesha.

Isifo sePhelan-McDermid

Kwimpawu zabo zomzimba banokuba luphawu lwesi sifo, abanye baya kuphuhlisa utshintsho kwaye bayohluka ngokwahlukileyo, abanye basenokungaqapheleki:

  • Ngexesha lokukhula kwamalungu omzimba wakho, ngaphezulu kwama-75% anokukhula okungaqhelekanga okanye okukhawulezayoUmzekelo zizandla ezinkulu nezinenyama, iinzipho ezinokukhula okwahlukileyo, zisenokuba zincinci kwaye zibhityane kwaye ngokuguga ziye zisiba ninzi, zikhulele ngaphakathi ngaphakathi. Iinkophe ezinde kunye namashiya ashinyeneyo,
  • Kwi-50% yamatyala banokubonisa ukumila kwentloko evulekileyo kwaye imxinwa, Zineendlebe ezinkulu nezibalaseleyo, ezinamaqhubu adumbileyo nalahlekileyo, amehlo atshonileyo, isicaba se-midface, impumlo ene-bulbous okanye ibhulorho ebanzi yempumlo, isilevu esibukhali, i-sacral dimple.
  • Banendawo yokufumana ubushushu kwaye abanye baye bancipha impendulo yokubila emzimbeni wabo. Ngomzuzu wakhe weentlungu banomqobo osezantsi kancinci kunesiqhelo.
  • Las ubunzima bokutya nokusela ziqhelekile ngenxa ye-hypotonia.
  • I-15% inee-cysts ze-arachnoid (izigaqa ezizaliswe lulwelo ezikhula kumphezulu wengqondo).
  • Ezinye iingxaki ezinqabileyo kodwa ezinengxaki yeembono ezinje nge-strabismus, otitis, lymphedema (ukudumba kweengalo nemilenze), i-reflux yegastroesophageal, iingxaki zezintso, isifo sohudo esinganyangekiyo okanye ukuxhuzula.

Unyango lwePhelan-McDermid Syndrome

Isifo sePhelan-McDermid

Ukuxilongwa siqinisekisiwe malunga neminyaka emithathu ubudala kwaye sisifo esinganyangekiyo. Nangona kunjalo, kukho iindlela ezahlukeneyo zokunyanga kunye nezixhobo ukuze ukwazi ukumelana nobunzima bakho kunye neengxaki ezincinci ezincinci mihla le.


Kukho amaziko akhethekileyo apho umntwana angaya khona ukuze landela ukukhula kwendalo ngokweempawu zayo. Ngaphakathi kolu hlobo lokukhuthaza ziincutshe zokuthetha, abantu abanonyango lokuphazamiseka kulwimi, ukumiliselwa kolwimi lwezandla kunye nokukhula konxibelelwano njengesiphumo se-autism.

Uninzi lonyango zisekwe kunyango, Phakathi kwabo kuya kubakho ukubalasela kunyango lwengqondo, emsebenzini, kunyango lwe-equine, kwiimvakalelo nakwimizimba.

Zonke iimpawu ezinokuthi zikhule, kubandakanya ezomzimba, ziya kufuna unyango ukuze zikwazi ukusombulula ezi zigulo kangangoko.


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