Parsley lefu - lefu lena le ke kamehla "thaba" motho

Parsley Syndrome, e tsejoang ka didikadikwe saense Angelman lefu, e neuro-liphatsa tsa lefutso bolwetse e tšoauoa ka lieha ntshetsopele ya ditekanyetso kelello le tsa nama tsa motho, e le tlōlo ea mekhoa robala le falimehe, sethoathoa, mekhatlo ea tšohanyetso le sa tsitsang la maoto le matsoho ka. Le sefahleho batho ha e tloha ho bososela, kamehla o tšeha ka lebaka na, 'me o sheba lekanngoe thabile. mekhatlo letsoho tsona li tšoana litlatse, opa liatla. Parsley Syndrome boetse o bitsoa Syndrome laolang ba thabile, re le batho ba kulang ba le mofuta oa popi, ka pososelo kamehla ka sefahleho le tse nyenyane khafetsa twitching matsoho, ikemiselitse ho litsoeng - bophara moriri e le lipopae lipopae, le likhoele tsa tse sebetsa ke puppeteer ka.

Ka lekhetlo la pele bolwetse ena liphatsa tsa lefutso e ile a hlalosa ka 1965 ke Dr. Harry Angelmanom ngaka ea bana, ba shebella bana ba bararo ba nang le bokooa ba anngoeng ke lefu lena. E ne e le lekhetlo la pele a le bakuli ba hae bitsoa "lipopae bana." Ha ho buuoa hamorao ea lefu lena le hlaha ka US ka 80s pele. Parsley Syndrome - lefu le ka toka le seng. The maqhubu a ya ketsahalo lona ka ya data dipalopalo tsa University Washington (USA) e 1: 20,000 masea.

Liphatsa tsa lefutso lefu Angelman ho bakoa ke ho hloka liphatsa tsa lefutso 'maloa ho tloha chromosome 15. Maemong a mang, a leeme hlakolwa, ke hore, ho lahleheloa ke sebakeng phatsa ea lefutso, kapa phetoho liphatseng tsa lefutso tsa bo15 somatic chromosome. Hangata e ama chromosome mè, e leng e fetisoa ho tloha ho 'm'a ho ea tlhaka. Empa e ka boela ea senngoa ke ntate oa hae, tabeng eo lefu lena le tsejoa e le lefu Prader-Willi. The karyotype tsa batho le dira ditshwantsho denoted ka XX kapa 46 XY, 15r-. Ho itlelang feela chromosomal sekoli e tšoauoa ka ho ba sieo ha le leholo contiguous sebakeng palo e khōlō (ho fihlela ho 3-4 milione) lipara tsa makalana DNA sebakeng q11-q13 likarolo 15, th chromosome. lithuto tsa ikemetseng senola lisosa tsa liphetoho tsena mutational bakoang ke liphetoho mutational ka UBE3A phatsa ea lefutso. Sehlahisoa sa phatsa ea lefutso ena ke potlakisang tsebetso ea lik'hemik'hale karolo ea tsamaiso e rarahaneng ea liprotheine ho senyeha. Parsley ka hlahloba le lefu ke and analysis liphatsa tsa lefutso.

Bana ba nang le lefu Angelman bongoaneng na mathata le lijo, haholo-holo boseeng pele ho nako, ha ba nona. Nakoana ka mor'a, o ka hlokomela ka lieha ka tlhabololo ya metsamao ya ngoana bokgoni ba akaretsang, e leng morao haholo ho qala ho lula 'me ba tsamaea. Ho na le ke e mpe, puo e futsanehileng. bana tsena ke tse ling tse ngata a hlokomela ho feta kamoo ba ka bua kapa ho bontša ka mantsoe.

A le lilemo li le sekolong, ho na le mathata a e khōlō le ho fana ka koetliso ea ba ileng ba ba na le boloetse ba lefu parsley, tsena bashanyana ka bala ka thata haholo. Ba inattentive haholo le hyperactive. Sethoathoa 'me mekhatlo e sa tloaelehang, ka ho khetheha, o motle tremor,' me mekhatlo ea pherekano motseng oa maoto le matsoho, khafetsa litšeho ho lebaka khetholla bana tsena. Bakuli ba ile a re ho gait bath - stiffly. Ke ka lebaka la karolo e ena, ba ile ba ba bitsoa ba laolang. ba boetse ba na le hlooho tse nyenyane le hanyenyane pantshisi-tse ka morao tsa hlooho, molomo oa ka bophara, ba hlaheletseng selelu, likheo tse khōlō pakeng tsa meno le ho e hlaheletseng ho leleme. Ho phaella moo, halofo ea bakuli ba le strabismus, scoliosis ebile a ba nahanela ho mocheso phahameng.

Parsley Syndrome jwale ha se na mekhoa ea phekolo e itseng, empa ho ntlafatsa boleng ba bophelo ba bakuli ho ka khoneha ka thuso ea mehato maloa phekolo. Masea etsa sililoa, qeta ea physiotherapy. Ha bana ba ea sekolong sa tlhokomelo lilemo amehang puo litsebi le pathologists puo. Ho normalize Boroko o balletsweng robetse bonolo. Tsoeroe ke sethoathoa sethoathoa ba tšoaroa ka anticonvulsants. Hangata, bana ba rutoa puo ea matsoho.

Parsley syndrome, ho ka etsahala hore ama tsa bashanyana, empa banana ba boetse ho na le bonolo hore lefu lena. Ikatisetsa bongaka, tabeng ea ho ima ba mosali ea nang le ea thabileng lipopae lefu, ke mang ea tsoetseng ngoanana, haholo, "ho thaba." Feela theko thabo e joalo bakuli ba batho e Hoa makatsa hore ebe e phahameng ...