Thawj thawj zaug lub tswv yim ntawm Petrushka Syndrome tau pib thaum xyoo 1965 los ntawm Harry Angelmann, tom qab tus neeg mob no tau hu ua tom qab. Tus kabmob ntawm tus kabmob yog 1 txog 20,000 tus menyuam thiab kis tau tus kabmob. Tus kab mob no tau kuaj pom thaum muaj hnub nyoog 3-7 xyoos thiab ntau zaus rau cov tub hluas.
Petrushka syndrome - nws yog dabtsi?
Tus kab mob no hu ua "zoo siab menyuam roj hmab", "laughing doll" los yog "puppet syndrome". Lub plawv ntawm Petrushka yog ib qho tsis tshua muaj neuro-genetic pathology, uas yog ib qhov kev ncua ntawm kev loj hlob ntawm lub cev thiab kev txawj ntse. Tsim kom muaj ib qho mob xiam oob qhab nrog Angelman syndrome yog tias koj hla kev tshawb fawb thiab qhia txog cov kws kho mob geneticists. Yog vim li cas rau qhov tsis muaj ntau ntawm cov noob ntawm lub 15th chromosome, raws li txoj cai, yuav tsum tau nrhiav nyob rau hauv maternal genotype. Nyob rau hauv cov poj niam li no, lub caij nyoog uas yuav zam ib tus me nyuam noj qab nyob zoo yog qhov tsawg, yog tias ib tug poj niam tau raug tus kab mob no - hauv 98% ntawm tus me nyuam tib tus tshwm.
Qhov tseeb ntawm tus mob hu ua angelman syndrome yog thaum tus me nyuam mos muaj qhov txo qis ntawm cov leeg mob thiab nws lub cev tsis muaj zog. Hmoov tsis, cov neeg muaj kab mob tsis zoo li no tsis muaj kev rov qab kho tag nrho, qhov ntau tshaj 15th chromosome yog cuam tshuam - qhov tsawg dua yuav kho. Nws yog lub npe hu hais tias xws li ib tug kab mob tsis yog tsuas pub niam txiv, tab sis kuj pom tau zoo dua thiab muaj zog dua li ntawm leej niam.
Parsley Syndrome - Cov tsos mob
Tus kab mob no yog tsi ntsees los ntawm:
- kev kaj siab thiab kev kaj siab rau tsis muaj laj thawj;
- chaotic gestures;
- nyuaj lossis tsis hais lus;
- cuam tshuam ntawm kev tshuav nyiaj li cas;
- qeeb nce phaus;
- qaug dab peg;
- pw ntxaug;
- strabismus (strabismus);
- kev sib ceg;
- copying salivation;
- ntog tawm ntawm tus nplaig;
- mob nqhis dej.
Cov tsos mob hauv cov neeg laus cov neeg mob tau raug kho dua hauv lub xyoo. Los ntawm tus poj niam laus, lawv tab tom muaj qee cov tsos mob, xws li kev mob siab thiab kev pw tsaug zog , thiab qee zaum yuav mob heev ntxiv, piv txwv, qij txha caj qaum. Thaum muaj hnub nyoog, muaj teeb meem hnyav tuaj yeem pib. Hauv cov menyuam ntxhais uas muaj tus kabmob no, thaum lub sijhawm puberty, uas tshwm sim ntawm lub sijhawm li niaj zaus, muaj qee zaum qaug zog.
Angelman Syndrome nyob rau hauv cov me nyuam - cov tsos mob
Thawj cov cim qhia ntawm parsley syndrome tshwm sim nyob rau hauv thaum ntxov lub hlis ntawm kev loj hlob.
- Thaum muaj teeb meem nrog kev pub mis, pw tsaug zog, qeeb ntawm qhov hnyav nce. Qhov yuav tsum tau pw tsaug zog yuav txo tau, thiab qhov kev coj noj coj ua yuav tsis raug tsim los ntev.
- Thaum muaj hnub nyoog kawm ntawv yuav muaj teeb meem nrog kev nyeem ntawv thiab kev xav, tsis yooj yim nrog kev mloog lus.
- Kev cuam tshuam nrog kev kawm yuav muaj xws li hyperactivity, teeb meem kev hais lus thiab kev tswj tus kab mob.
- Vim tias qhov kev tawm hws khaus ntawm cov ceg tawv, cov neeg mob hu ua "puppets", lawv kuj yog cov qe los ntawm scoliosis thiab, feem ntau txaus ntshai, qaug dab paug raug pom hauv 80% ntawm cov neeg mob.
Tus kab mob "Parsley Syndrome" - ntau npaum li cas nyob?
Lub neej expectancy ntawm cov neeg mob uas muaj tus mob ntawm "Petrushka syndrome" yog qhov nruab nrab, 35-40 xyoos. Cov neeg uas tau txais ib qho kev tsis taus, tab sis leej twg tau siv txoj kev kho kom zoo rau tas nrho lub sijhawm, tuaj yeem nyob ntev dua. Tam sim no, tsis muaj txoj hau kev kho kom zoo, tab sis muaj cov kev pabcuam tshwjxeeb uas yuav pab tau kom muaj lub neej zoo rau cov neeg mob.
Angelman syndrome - kev kho mob
Nws yog ib qho tseem ceeb kom nco ntsoov tias qhov tseem ceeb tshaj plaws rau cov menyuam uas muaj kab mob yog qhov chaw ntawm kev hlub thiab kev hlub hauv tsev, tsis txhob hnov qab txog kev kuaj mob thiab kev ua txhua yam kev kho mob. Nrog lub sij hawm dhau los, txoj kev kho tshiab Anghelman's syndrome tshiab yog tsim tau. Cov kev pabcuam tshwj xeeb no yog tsim los ntawm txhua tus neeg mob uas muaj cov tsos mob sib txawv, tab sis muaj 4 txoj kev loj:
- Anticonvulsants rau kev kho mob ntawm epilepsy, uas yuav txo tau txoj kev pheej hmoo ntawm qaug dab peg thiab txo cov kev rau txim.
- Physiotherapy qoj ib ce rau kev loj hlob ntawm kev txawj txua me thiab lwm yam kev ua si.
- Cov lus piav qhia zoo dua yog koj pib kawm ntawm lub hnub nyoog thaum ntxov, kev kawm zoo li txoj kev sib txuas lus yuav pab koj hloov thiab sib koom ua ke dua, kom sai li sai tau hauv qhov no.
- Kev coj tus cwj pwm yog tsim nyog kom kov yeej kev mob siab thiab nce siab.