I fa hian heng symptoms te hi a nei em? Phelan-McDermid Syndrome chungchang hi han sawi ila

Phelan-McDermid Syndrome hi i hre tawh em? He hming hi i hre lo mai thei, a chhan chu genetic condition hmuh tur awm lo deuh a nih vang a ni. Hetiang dinhmun hian hriselna lama harsatna hrang hrang a thlen thei a, rilru lama hmasawnna a tikhawtlai thei a, nungchang a tidanglam thei a, a bik takin naupang tê tête chu a tidanglam thei a ni. Chuvangin, vawiinah hian awlsam takin, in hriatthiam theih angin kan sawi dawn a ni. Hlau suh, he thu hi hriat a pawimawh hle.

Phelan-McDermid Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Phelan-McDermid syndrome hi genetic disorder a ni a, naupang taksa, finna leh nungchangah harsatna chi hrang hrang a thlen thei a ni. Entir nan:

• Chaw ei harsat.
• Muscle chak lohna.
• Thusawi tihkhawtlai leh hmasawnna atana thil pawimawh dangte.
• Naupang thenkhat chuan Autism Spectrum Disorder ang chi natna an nei thin.
• A châng chuan epilepsy ang chi dinhmun pawh a awm thei bawk.

Hei hi hming dang a awm a, chu chu ``22q13.3 deletion syndrome'' tih a ni.A hming hi a buaithlak deuhin lang mahse, chu pawh chu han sawi ila.

Hetiang dinhmun hi engtiang chiahin nge a tlem?

Dik tak chuan, he Phelan-McDermid syndrome an tih hi a tlem hle . Scientist-te sawi dan chuan naupang nuai za khatah naupang pahnih atanga sawm inkar a nghawng a ni. Mahse, hriat harsa deuh a nih avangin naupang report aiin he natna hi an nei tam zawk thei a ni. Khawvel pumah naupang 2200 leh 2500 inkar chauh hmuhchhuah a ni. Chuvangin hei hi a tlem zia chu i ngaihtuah thei ang.

Phelan-McDermid syndrome leh autism hi eng nge inzawmna?

Hei hi mi tam takin harsatna an neih a ni. Phelan-McDermid syndrome vei naupang tam tak chu autism spectrum disorder an nei tih hmuhchhuah a ni . Scientist te chuan autism nei naupang 1% vel pawhin Phelan-McDermid syndrome an nei thei niin an chhut. Chumi awmzia chu an pahnih inkarah hian inzawmna a awm tihna a ni.

Engvangin nge Phelan-McDermid syndrome hi a lo awm?

Awle, tunah chuan hei hi eng thil nge a thlen tih i en ang u. Hei hi chromosomes inthlak danglam vang a ni . Chromosomes hi kan cell chhunga thil tenawm tak tak te hi an ni. Chung chhungah chuan kan genes te hi a awm a. Genes hi kan taksa hnathawh dan atanga kan san zawng, mit rawng, leh eng natna nge kan neih theih tih thlengin engkim tichiangtu thupek chi khat ang a ni.

A tlangpuiin mihring cell tin hian chromosome pahnih 23 an nei a, a vaiin chromosome 46 an nei a ni. Naupang Phelan-McDermid syndrome vei chuan chromosome 22 tlemte a bo a, a nih loh leh "deleted" a ni. Chuvangin `22q13.3 deletion syndrome' an ti bawk.

A tam zawkah chuan he dinhmun hi nu leh pa atanga rochun a ni lo. Hetianga chromosome piece hloh hi randomly-a thleng a ni a, chu chu egg emaw sperm cell emaw a lo awm hian emaw, embryo a lo thanglian lai emaw a ni. Mahse, a tlem berah chuan nu leh pa hnen atanga rochun theih a ni. Chutiang a nih chuan he natna nei nu emaw pa emaw chuan an fain he natna hi a rochun theihna chance 50% vel an nei a ni.

Hetiang natna lan chhuah dan hi engte nge ni?

Phelan-McDermid syndrome symptoms hi mi hrang hrangah a inang lo thei hle. Mi thenkhat chuan symptoms an nei tlem zawk a, thenkhat chuan an nei tam zawk. Nau piang lai hian symptom thenkhat a awm a, thenkhat erawh chu nausen lai emaw, naupan lai emaw a lang thung. Heng chhinchhiahnate hi taksa lam, nungchang lam, rilru lam emaw, heng zawng zawng inzawmkhawm emaw pawh a ni thei.

I fa hian heng ang symptoms hi a nei thei a ni:

• Developmental delays : Rolling over loh, thut loh, kal loh ang chi thil. Ngaihtuah teh, naute thenkhat chu thla 6 an tlin chuan an rolling over tan a, thenkhat chu thla 9 an tlin chuan an thut thin. Mahse hetiang dinhmun nei naupang hian heng thilte hi a ti rei deuh thei a ni.
• Natna tuar thiamna tihpun : Hei hian midang aiin natna hre tlem zawk tihna a ni.
• Muscle weakness (hypotonia) : Taksa chu a hlim lo thei a, a chak lo thei bawk.
• Thusawi lama harsatna : Thusawi tlai emaw, tawng thiam loh emaw.
• Sleep disorders : Mut harsa, harh fo ang chi.
• Thawmhnaw pangngai aia tlem : Hei hian taksa a lum lutuk a, tui a tlakchham phah thei bawk.
• Ei leh ei harsatna .
• Digestive system lama harsatna : Luak chhuak fo, luak chhuak, leh luak chhuak (gastroesophageal reflux disease).

Phelan-McDermid syndrome vei tam tak pawhin autism spectrum disorder an nei bawk a, chuvangin nungchang lama chhinchhiahna te pawh an nei thei a, chungte chu:

• Mit chhunga en hi chak lohna a ni .
• Khawtlang dinhmunah hlauhna leh hlauhna neia inhriatna .
• Chaw ni lo thil (e.g. infiamna, thawmhnaw) chewing duhna .
• Hypersensitivity to touch : Miin a khawih che chuan nuam lo tihna.

Hetiang natna vei te hmel lan danah pawh thil bik thenkhat hmuh tur a awm bawk:

• Mit sunken tak a ni.
• Mitmeng tla (ptosis) a awm.
• Beng lian emaw, hmalam pan chhuak emaw.
• Ke ruh pahnihna leh pathumna chu a inzawm khawm (syndactyly) angin a lang thei.
• Kut emaw ke lian tak tak, taksa ruh nei nei.
• Lu hi a sei a, a pianzia a tawi bawk.
• Chin hian pointed shape a nei a.
• Ke ruh te te emaw, a pangngai lo emaw.

A châng chuan he natna hi pianpui thinlung natna leh kal lama harsatna nen a awm ṭhin.A tlem hle a, heng naupangte hian an thluaka tuiin a khat sacs (arachnoid cysts) an nei thei a ni. Chungte chuan lu chhungah pressure a tipung thei a, rilru hahdam lo, tap, lu na, epilepsy te a thlen thei a ni.

He natna hi engtin nge an hriat chhuah?

Phelan-McDermid syndrome symptoms hi a chang chuan fiah lo tak a nih avangin hriat harsa tak a ni thei. I fa chu dik taka hriat theih a nih hmain test vawi tam tak neih a ngai mai thei. Doctor chuan hetiang hi a ti thei a:

• Naupang taksa enfiahna .
• Naupang natna lan chhuah dan leh a thanlenna tihkhawtlai chungchanga a damdawi lam chanchin zawh .
• Chhungkaw zingah hian hetiang natna hi an nei tawh em tih hriat tumin chhungkaw medical history zawt rawh .
• Genetic testing dil rawh . Hei hian thisen sample tlemte lak a huam tlangpui. Hei hi chromosome fragment sawi tur a awm loh leh awm loh hriat nan hman theih a ni.

A tlem berah chuan he natna hi chromosome bo vang a ni lo thei. Chu ai chuan `SHANK3` an tih gene inthlak danglam vang a ni thei. Chromosome deletion hmuh a nih loh chuan i doctor pawhin he gene hi test turin a rawt thei bawk.

Test-te hian `22q13.3 deletion syndrome` a nih thu a nemnghet a nih chuan doctor chuan test dang engemaw zat a rawt thei ang:

• Nu leh pa pahnih genetic testing : Hei hi rochun thil a nih leh nih loh en rawh.
• Naupang thluak MRI (Magnetic Resonance Imaging) emaw CT (Computed Tomography) scan : A chunga kan sawi tak arachnoid cyst ang chi hi a awm em tih enfiah nan.
• Kidney ultrasound : Kal chhiatna enfiah nan.
• Echocardiogram : Lung lam thil dik lo awm leh awm loh enfiah nan.
• Hriatna test.
• Mit enfiahna chipchiar tak.
• Mut chungchang zirchianna a ni.

Hei hi damdawi famkim a awm em?

Dik tak chuan tunah hian Phelan-McDermid syndrome hi damdawi a la awm lo . Enkawlna tum ber chu naupang natna lan chhuah dan thunun a, a theih ang anga hnathawh that leh harsatna lo awm thei tur ven hi a ni.

I fa enkawltu team-ah hian specialist hrang hrang an awm thei a, chung zingah chuan:

• Cardiologist a ni
• Gastroenterologist a ni
• Nephrologist a ni
• Neurologist a ni
• Occupational therapist: Mite nitin hna ei leh in leh ziak te thawk tura puitu.
• Orthopedist (ruh leh ruhkawr lam thiam) .
• Physical therapist: Taksa peng a nghawngte tichak tura puitu.
• Thusawi/Ṭawng lam natna lam thiam
• Endocrinologist a ni

Hêng specialist zawng zawng hian i fa enkawlna ṭha ber pe tûrin an thawk ho tih hre reng ang che.

Hetiang dinhmun hi ven theih a ni em?

Mi pakhatin he natna hi a vei tih hmuhchhuah a nih chuan tunah chuan a genetic changes siamthat dan tur a awm tawh lo. Mahse, nu leh pa zinga pakhat pawhin he natna hi a neih ve lohna hmunah chuan nakin lawka naupangte chunga a thlen loh nan IVF technology emaw, nau neih hmaa test emaw hman theih hun a awm thin.

Nangmah emaw, i chhungte zinga tu emaw hian he natna hi i neih chuan doctor emaw, genetic counselor emaw nena inbiakna neih a pawimawh hle . I fate’n he dinhmun hi an rochun theih dan tur an hrilhfiah thei che a ni.

Ka fa hian hetiang dinhmun hi a nei a nih chuan hmalam hun chu eng ang nge ni ang?

Hei hi naupang tin tan a inang lo. Naupangin rualbanlona chi hrang hrang a neih leh a nasat danah a innghat a ni.

Hetiang dinhmun hian a nghawng hi nunna atana hlauhawm a ni lo . Mahse, he natna vei tam tak chuan dam chhung zawng damdawi lam enkawlna leh khawtlang tanpuina kalpui zel an mamawh thei a ni . Chuvang chuan heng naupangte tan hian chhungte hmangaihna, hriatthiamna leh \anpuina hi a pawimawh hle a ni.

Hetiang naupang hi engtin nge i enkawl ang?

I fate chu an theihna tihpun nan specialist appointment apiangah hruai vek a pawimawh . I fa hian thawk a chhuah theihna a tlahniam thei a, chuvangin a hnuaia mite hi hre reng ang che:

• Khua lum lutuk kha pumpelh rawh .
• Naupang chu tui in tur tam tak pe rawh (a tui tlakchham loh nan veng rawh).
• Ni êng direct lakah venhim rawh .

Phelan-McDermid syndrome vei tam tak chuan natna tuar thiamna sang tak an neih avangin leh an hrehawmna thu sawi harsa an tih avangin, i fain natna a vei tih chhinchhiahna zawng turin fimkhur rawh Chung zinga pakhat tal i hriat chuan doctor ko rawh. I fain a pum a na em tih emaw, thil dang emaw a neih leh neih loh hriat theih nan an pui thei che a ni. Natna chhinchhiahnate chu:

• A tlangpui aia ngawi renga awm, midang nena inpawh lo zawk.
• A pangngai aia rang zawka thawk.
• Tap emaw, a tlangpui aia hahdam lo zawk emaw.
• Khum emaw, a bula thil emaw nghet taka vawn.
• Taksa, kut leh ke khauh tak leh che thei lo tura vawn.
• Hmai lan danah natna (e.g., mit khar nghet tak, hmui pursing).
• Whining emaw au chhuah emaw.

Doctor hnenah eng nge i zawh belh theih ang?

I fain Phelan-McDermid syndrome a neih chuan doctor hnenah heng zawhnate hi i zawt thei ang:

• He chromosomal deletion hi rochun a ni em, a nih loh leh random occurrence a ni em?
• Ka fa hian lung, kal, thluak cyst ang chi harsatna a nei em?
• Ka fa rilru lama harsatna hian eng chen nge a nghawng?
• Ka fa hian eng ang specialist nge a hmuh ang? Engtianga zingin?
• Hetiang dinhmun hi kan nunpui thei tur support group an awm em?
• Genetic counselling hi i rawt em?
• Kan chhungkaw dangte hian genetic testing kan nei tur em ni?

A tawp berah chuan ka sawi tur chu...

Phelan-McDermid Syndrome hi genetic condition hmuh tur awm lo tak a ni. Thusawi leh hmasawnna tikhawtlai a thlen thei a, autism spectrum disorder a thlen thei bawk. I chhungte zinga mi pakhatin he chromosomal deletion syndrome hi a vei tih hmuhchhuah a nih chuan hlau suh . Specialist team chuan nang leh i fa chu an pui thei che a ni. Hetah hian thil tum ber chu i fa hnathawh dan tihchangtlun te, harsatna awm thei tur ven te, a tul chuan genetic counseling pek te a ni. Nangmah chauh i ni lo , he zinkawngah hian tanpui thei tur che mi tam tak an awm bawk.

` Phelan-McDermid Syndrome, Phelan-McDermid Syndrome, Genetic Disease, Chromosome, Autism, Hmasawnna tihkhawtlai, SHANK3