I fa chu he natna hmuh tur awm lo tak hian a nghawng thei ang em? Aicardi Syndrome chungchang hi i zir dawn teh ang!

Moms and dads u, a chang chuan kan fate naupangte natna te ngaihtuah hian a buaithlak thei hle a ni lawm ni? A bik takin, i hriat ngai loh natna hlauhawm tak a nih chuan. Vawiin hian chutiang dinhmun pakhat chu kan sawi dawn a ni. Aicardi Syndrome tih a ni. Hei hi thil awm lo tak a ni a, nausen pian tirh atanga lo awm a, naute thluak leh mit a nghawng thin. He hming i hriat hian i hlau deuh mai thei, mahse chipchiar tak leh awlsam takin i sawi dawn nia.

Aicardi Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Aicardi Syndrome hi naute piangsualna a ni a, an taksaah, a bik takin an thluak leh mitah danglamna engemaw zat a awm a ni. Hei hi thil awm lo tak a ni. Doctor-te chuan he natna lanchhuahna lian ber pathum an hmuchhuak a. Eng nge an nih i en ang u.

1. Agenesis of the corpus callosum: Kan thluak hmun pawimawh tak a awm a, chu chu thluak veilam leh dinglam inzawmkhawmtu kawngpui (bridge) ang maia thawk a ni. Chu chu corpus callosum an ti a. Hetiang natna vei naupangteah hian he hmun hi a lo piang kim lo va, a then chauh a lo piang a ni. Hei hian thluak kil hnih inkara thu inthlengna a tibuai thei a ni.

.​ A nih loh leh retina hmun thenkhat, mit hnung lama kan thil hmuh chu thluaka thawn chhuaktu sensitive tissue (`(Chorioretinal lacunae)`) a tlachham a ni. Hei hian mit a tichhe thei a ni.

3. Seizures: Heng naupangte hian nausen laiin spasm an nei thei a, chu chu nausen lai atanga tan a ni . Hei hi thluaka electrical activity dik lo avanga lo awm a ni. Heng seizures te hi a awm reng thei a, recurrent epilepsy ah a lo chang thei bawk.

Hei hi nunna atana hlauhawm tak a ni. Thil na tak tak thenkhatah chuan naupang dam chhung a nghawng thei a ni. Mahse kan hriat reng tur chu case zawng zawng hi a serious vek lo . I fa chu naupang dangte aiin dam rei lo zawk mah se, i fa chu a la inkhel thei a, a la nui thei a, a naupan lai chu a la hlim thei tho a ni. I doctor chuan i fa dinhmun a zirin i beisei tur a hrilh ang che. A chhan chu, naupang tin ang bawkin naupang tin dinhmun hi a danglam bik a ni.

Heng naupangte hian dam chhung damdawi lam enkawlna leh puihna an mamawh dawn avangin an doctor-te nen hian inzawmna nghet tak an nei ang. Nu leh pa leh enkawltute tan pawh an fate an lo puitlin chhoh zelna atana an mamawhte an hmachhawn theih nan hmanraw leh thurawn tam tak a awm bawk.

Aicardi Syndrome natna lan chhuah dan chu engte nge ni?

Aicardi Syndrome hian naupang taksa peng hrang hrang a nghawng thei a. A bik takin:

• Thluak lam pan chuan
• Mit tan chuan
• Taksa hmasawnna atan

Heng zawng zawng hi chipchiar deuhin han thlir ila.

Thluak nena inzawm thil chi hrang hrang

Hetiang dinhmun avang hian naupang thluak tichhe thei symptom engemaw zat a awm a:

• Sawi tawh ang khan corpus callosum hi a thawk tha lo hle a ni .
• Seizures , chu chu epilepsy tihna a ni.
• Brain asymmetry - Chumi awmzia chu thluak sir lehlamah a lian leh te, a pianzia a inang lo tihna a ni.
• Brain tumor emaw lumps emaw a awm dan (a size emaw number) a awm lo.
• Thluak cyst a awm.
• Thluak chhunga fluid-a khat cavities (ventricles) te tihpun.
• Nerve cell te chu hmun danglam takah an inzawm khawm (`(Heterotopia)`).

Hetiang dinhmun chhinchhiahna hmasa ber pakhat chu seizures a ni thei a, chu chu naute thla engemaw zat a nih atanga intan a ni. Hengte hi nausen spasm ang maiin a lang thei . I naute taksa pum pui chu a hrual nghal vek ang maiin i hria mai thei. Heng seizures te hi ni khatah vawi tam tak a awm thei a, hun kal zelah a na zual thei bawk.

Chu bâkah, i fa chu an kum nêna inmil tûra ṭhanlenna kawngah a tlai tih i hmu mai thei bawk. Entîr nân, kea kal ṭan emaw, an thusawi hmasa ber sawi emaw chu an tlai mai thei. Hetiang dinhmunah hian rilru lama harsatna (intellectual disability) hi a awm fo thin. A nasat loh atanga na tak thlengin a awm thei.

Mit nena inzawm symptoms te

Naupang mit tichhe thei Aicardi Syndrome symptoms te chu:

• Mit nerve (`(Coloboma)`) a chhiatna a awm.
• Retina tissue tlahniam (Chorioretinal lacunae) a awm bawk.
• Mit te emaw, a lo thanglian lo emaw (Microphthalmia).

A na lo zawkah chuan mit lama harsatna a awm thei a, chu chuan glasses vuah leh mit enfiah fo a ngai thei bawk. Amaherawhchu, mit dik lo na tak a awm chuan mitdelna a awm thei bawk.

Taksa hmasawnna nena inzawm mizia

Aicardi Syndrome hian naupang taksa peng thenkhat lo thanglian dan a nghawng thei a ni. Hei hian taksa lama natna lan chhuahna a thlen thei a, chungte chu:

• Muscle chak lohna, limpness, leh coordination hloh (`(Hypotonia)`). Rubber doll ang maiin a awm thei.
• Lu te tak te (Microcephaly) a ni.
• Spine leh ribs-a thil dik lo awm, chu chuan scoliosis a thlen thei.
• Beng lian zawk.
• Hmai chunglam leh hnar inkar hmun tawi (philtrum).
• Kut te tak te emaw, deformed emaw.
• Mitmeng a hring (thinning) a.

Naute chuan ṭhut emaw, thil pakhat chelh emaw, kal emaw an harsat phah thei. I naute hian he list-a symptoms pakhat emaw a aia tam emaw a nei thei a, mahse a zawng zawng erawh a nei lo.

Hetiang dinhmun nen hian gastrointestinal symptoms pawh a awm thei bawk. Entir nan:

• Ei leh in harsatna (nausen tan), a chang chuan a nasat em avangin tube hmanga chaw pek a ngai thin.
• Ek khal.
• Kawthalo.
• Gastroesophageal reflux (Gastroesophageal reflux) - Hei hian ei tur chu rilru chhungah a rawn chho leh tihna a ni.

Naupang tê têin chaw ei a harsat huna ṭanpui theih loh a nihzia han ngaihtuah teh. Mahse heng thilte hi enkawl dan tur a awm.

Taksa peng thenkhat lo thanglian danah danglamna awm mah se, i fa chuan thil engemaw chu a mah chauhin a ti thei mai thei. Entir nan:

• Mahni chauhin ei rawh.
• Mahni chauhin thu rawh.
• Thumal tawi hmangin thu sawi la, a nih loh leh kut zungtang ang chi, kawng dang hmangin i ngaihdan sawi rawh.
• Kal.
• Toilet hmang rawh.

I fa hian heng thiamnate hi a thiam theih nan midang aiin hun a duh rei zawk thei. Thil na tak tak ṭhenkhatah chuan heng thiamnate hi an thiam thei lo tak zet a ni. Mahse naupang tin hi an danglam vek tih hre reng ang che .

Aicardi Syndrome hi engte nge ni?

Hei hi X chromosome a gene variant awm vang a ni . Eng gene nge a nih chiah tih hriat tumin zirchianna an la nei reng a ni.

A pawimawh ber chu he dinhmun hi thlahtute atanga lo piang a ni lo . Chu chu nu leh pa atanga rochun a ni lo tihna a ni. Random takin a thleng a, a nih loh leh genetic change thar lo awm nghal mai avanga thleng a ni.

Aicardi Syndrome vei theihna tur thil awm thei te

Hetiang dinhmun hian hmeichhe naupang a nghawng tam ber a, a chhan chu genetic mutation hian X chromosome a nghawng vang a ni.

I hria em, hmeichhia hian X chromosome pahnih (XX) an nei a. Mipa naupangte hian X chromosome pakhat leh Y chromosome pakhat (XY) an nei a. Heng chromosome te hian naupang sex ziarang a hril a ni.

Hetiang dinhmun hi naupang mipaah ​​a awm chuan X chromosome pakhat chauh an neih avangin thihna thlen thei a ni. Hmeichhia hian X chromosome pahnih an neih avangin pakhatin a nghawng a nih pawhin pakhat zawk hian X chromosome hrisel tak a nei a ni.

Aicardi Syndrome natna avanga harsatna awm thei

Aicardi Syndrome hian a hun hmaa thihna a thlen thei hial a ni. Hei hi a chhan ber chu:

• Seizures awm reng, enkawl harsa tak tak.
• Ei leh in nena inzawm harsatna.
• Thâwk harsa.

I fa chu nunna atana hlauhawm thawkna lama natna hrik, pneumonia ang chi a vei theihna a sang zawk thei a ni. Hei hi lung leh diaphragm chhunga thau (muscles) te hi a chak lo vang a ni. Chuvangin, chutiang hri kai enkawl chu a harsa thei hle.

Doctor ten Aicardi Syndrome hi engtin nge an hriat theih?

A châng chuan doctor chuan naute pian hmaa nau neih hmaa ultrasound a neih laiin he natna lan chhuahna hi a hmu thei ṭhin. Naute a pian hnuah naute thluak leh mit tichhe thei chhinchhiahna enin a diagnosis tih finfiah a ni.

Diagnosis finfiah nan a hnuaia test te hi tih theih a ni:

• Thluak MRI scan hmangin:Thluak chhunga corpus callosum leh thil dangte enfiah thin ang che.
• EEG (Electroencephalogram) test: Epilepsy a awm leh awm loh hriat nan thluaka electrical activity a enfiah thin.
• I mit chu naupang mit lam doctor hnenah enfiah tir rawh: A hmaa kan sawi tawh ang khan, ``Coloboma'' leh ``Choroidal lacunae'' te hi enfiah rawh.

Aicardi Syndrome hi engtin nge enkawl a nih?

Aicardi Syndrome enkawl dan hi a natna lan chhuah dan azirin naupang a nghawng dan azirin a inang lo. Enkawl dan pakhat hian mi zawng zawng tan a thawk vek lo.

• Antiseizure damdawi: Hengte hian seizure control nan a pui thei a ni. Mahse a chang chuan seizure hi enkawl a harsa thin. Damdawi pakhat chauh hman theih a awm lo. I fa doctor chuan an tana tha ber tur zawng turin damdawi chi hrang hrang engemaw zat a lo enchhin ang.
• Implantable devices: Entirnan, vagus nerve stimulator ang chi device te hian thluak hnathawh control nan a pui thei a. Hei hi damdawi a hlawk loh chuan duhthlan tur a ni thei.

Enkawlna dangte chu:

• Physical therapy: Taksa tichaktu leh chetna tichaktu.
• Occupational therapy: Nitin hna thawh theihna tura thiamna mamawh tihhmasawn.
• Speech therapy: Thusawi thiamna tihchangtlun emaw, inbiakpawhna thiamna dang practice emaw.
• School-ah zirtirna bik programme hrang hrang neih a ni .
• Vision support: Entîr nân, adaptive technology hman dân emaw, Braille chhiar dân emaw zir .

I fa hian a dam chhung zawngin tanpuina a mamawh ang a, a bik takin rilru lama harsatna a neih chuan. Chhungkaw leh enkawltute tan pawh an fa enkawl tur leh a tul chuan resources zawng turin tanpuina tam tak a awm bawk.

Engtikah nge ka fa doctor ka hmuh ang?

I fa chu nausen laiin a natna hmuhchhuah a nih loh chuan, a kum nena inmil hmasawnna tur thil pawimawh (e.g., an thusawi hmasa ber sawi, mahni chauha thut) a tlin tlai chuan doctor pan nghal rawh

I fain a vawi khatna atana seizure a neih chuan emergency services call nghal rawh .

Ka fa doctor hnenah eng zawhna nge ka zawh ang?

I fa hriat chhuah dan i hriat chuan zawhna tam tak i nei thei. Zawhna i zawt thei ang:

• Ka fa natna lan chhuah dan hi engtiang chiahin nge a nasat?
• Eng symptom nge ka fimkhur tur?
• Ka fain seizure a neih chuan engtin nge ka tih ang?
• Eng ang enkawlna nge i rawt?
• Enkawlna hian side effect a nei em?
• Ka fa dam rei zawng chu engzat nge ni ang?

Ka fa hian Aicardi Syndrome a vei a nih chuan eng nge ka beisei ang?

Aicardi Syndrome hian i fa a nghawng dan tur dik tak sawi a harsa hle. He natna hi a tlem em em a, a lan chhuah dan pawh mi hrang hrangah a inang lo thei hle a, chuvangin i fa doctor chuan i fa dinhmun chungchanga beisei tur chiang takin a hrilh ang che.

I fa hian a dam chhung zawngin tanpuina a mamawh ang. Anmahni chauhin thil tam tak him taka an tih theih loh avangin, a nih loh leh mahni inrintawkna nei lovin an khawsa thei lo mai thei a, chuvang chuan damdawi lam enkawlna, therapy leh puihna service kalpui zel an mamawh dawn a ni. I fa medical team te chuan kawng lakah an pui ang che. Chutiang chuan i beisei tur leh i fate chhawmdawl dan tur tha ber tur hriattir i ni thei ang.

Naupang Aicardi Syndrome vei dam rei zawng chu engzat nge ni ang?

I fa hmalam hun tur chu an natna lanchhuahna nasat dan leh a nasat danah a innghat a ni. Natna lanchhuahna na tak chuan naupang dam rei zawng a ti tawi thei a ni. Mahse, natna lan chhuahna tlem nei tam tak chu puitlin thlengin an nung .

Hei hi mi hrang hrangah a inang lo va, chuvangin thu dik ber hriat duh chuan i fa doctor nen inbia ang che.

"I fa hian Aicardi Syndrome ang natna hlauhawm tak a nei tih hriatchhuah hi nu leh pa emaw enkawltu emaw hriat harsa ber pakhat a ni thei. Eng nge beisei tur leh beisei tur tih chungchangah zawhna tam tak i nei a. Doctor-te chuan hmalam hun an sawi lawk thei lo nain, i fa chu a hrisel thei ang bera awm theihna tura a mamawh zawng zawng an pe thei a, enkawlna leh puihna an pe thei a ni.

Aicardi Syndrome enkawl hi dam chhung zawnga tih tur a ni. Hei hi zinkawng lungkhamthlak leh rilru hahna a nih theih laiin, i fa doctor-te chu i kalna apiangah an awmpui reng dawn tih hre reng ang che. Ṭanpuina i mamawh emaw, zawhna i neih chuan zawh hreh suh.

Take-Home Thuchah a ni

Okay, chuvangin, kan sawi tawh atang hian thil engemaw zat hriat reng tur a awm:

• Aicardi Syndrome hi natna hlauhawm tak a ni a , nau piang lai hian a awm thin .
• Hei hian thluak leh mit a nghawng ber a , seizures a thlen thei bawk .
• He dinhmun hi thlah khat atanga thlah dang atanga lo chhuak thil a ni lo .
• Naupang hrang hrangah hian natna lan chhuah dan leh a nasat dan hi a inang lo thei hle .
• Enkawlna hian natna lan chhuahnate chu a enkawl thei a, naupang chu ṭanpui a pawimawh hle bawk .
• Nangmah chauh i ni lo. Doctor, therapist leh support group te chu nang leh i fate tanpui turin an awm a ni.
• Naupang tin hi an hlu a, hmangaihna, enkawl leh hlimna chanvo inang an nei a ni. Hetiang natna vei naupangte hi an theihna zawng zawnga an thanlen theih nan tanpui hi kan mawhphurhna a ni .

He thu hian Aicardi Syndrome chungchang hriatthiamna engemaw chen i neih theih ka beisei. I fa chungchanga thurawn pe tur che chu i doctor a ni tih hre reng ang che.

` Aicardi Syndrome, Aicardi Syndrome, Natna Rare, Thluak Natna, Seizures, Hmasawnna tlai, Genetic Mutations, Naupang hriselna