Omwana wo alina obubonero buno? Ka twogere ku bulwadde bwa Phelan-McDermid Syndrome

Wali owuliddeko ku bulwadde bwa Phelan-McDermid Syndrome? Oboolyawo erinnya lino toliwulirangako, kubanga mbeera ya buzaale etali ya bulijjo. Embeera eno esobola okuleeta ebizibu by’obulamu eby’enjawulo, okulwawo okukula mu magezi, n’okukyusa enneeyisa naddala mu baana abato. Kale, leero tugenda kukyogerako mu ngeri ennyangu gy’osobola okutegeera. Tofaayo, kikulu nnyo okumanya amawulire gano.

Obulwadde bwa Phelan-McDermid Syndrome kye ki?

Mu ngeri ennyangu, obulwadde bwa Phelan-McDermid syndrome buzibu bwa buzaale obuyinza okuleeta ebizibu eby’enjawulo mu mubiri gw’omwana, mu magezi n’enneeyisa ye. Okugeza nga:

• Okukaluubirirwa okulya.
• Obunafu bw’ebinywa.
• Okulwawo okwogera n’ebintu ebirala ebikulu mu nkulaakulana.
• Abaana abamu balina embeera nga Autism Spectrum Disorder.
• Oluusi embeera ng’obulwadde bw’okusannyalala ziyinza n’okubaawo.

Waliwo erinnya eddala eritegeeza kino, nga lino lye ``22q13.3 deletion syndrome.'' Wadde erinnya lino liyinza okulabika ng'ekizibu katono, ka twogere ku ekyo nakyo.

Embeera eno etatera kubaawo etya?

Mu butuufu, embeera eno eyitibwa Phelan-McDermid syndrome tetera kubaawo nnyo . Okusinziira ku bannassaayansi, bukosa abaana abali wakati wa babiri ne kkumi ku buli lukumi. Wabula olw’okuba kizibu katono okuzuula obulwadde buno, kisoboka okuba nti abaana bangi balina embeera eno okusinga bwe baloopebwa. Abaana abali wakati wa 2200 ne 2500 bokka be bazuuliddwa mu nsi yonna. Kale oyinza okulowooza ku ngeri kino gye tekitera kubaawo.

Kakwate ki akaliwo wakati w’obulwadde bwa Phelan-McDermid syndrome n’obulwadde bwa autism?

Kino kizibu abantu bangi kye balina. Abaana bangi abalina obulwadde bwa Phelan-McDermid syndrome bazuuliddwa nga balina obuzibu bwa autism spectrum disorder . Bannasayansi bateebereza nti abaana nga 1% abalina autism nabo bayinza okuba n’obulwadde bwa Phelan-McDermid syndrome. Kino kitegeeza nti waliwo akakwate wakati w’ebintu bino byombi.

Lwaki obulwadde bwa Phelan-McDermid syndrome bubaawo?

Okay, kati ka tulabe ekivaako kino. Kino kiva ku nkyukakyuka mu chromosomes . Chromosomes bye bintu ebitonotono ebiri munda mu butoffaali bwaffe. Munda mu bino mulimu obuzaale bwaffe. Ensengekera z’obuzaale ziringa ebiragiro ebisalawo buli kimu okuva ku ngeri omubiri gwaffe gye gulina okukolamu, okutuuka ku buwanvu bwaffe, langi y’amaaso, n’endwadde ki ze tuyinza okufuna.

Mu budde obwabulijjo, buli katoffaali k’omuntu kalina ensengekera z’obutonde (chromosomes) 23, omugatte gwa chromosomes 46. Omwana alina obulwadde bwa Phelan-McDermid syndrome alina akatundu akatono aka chromosome 22 akabula, oba "akasaziddwamu." Eno y'ensonga lwaki era kiyitibwa `22q13.3 deletion syndrome.'

Ebiseera ebisinga embeera eno tesikira bazadde. Okufiirwa kuno okw’ekitundu kya chromosome kubaawo mu ngeri ya kimpowooze, kwe kugamba, eggi oba obutoffaali bw’ensigo bwe butondeddwa, oba ng’embuto ekula. Kyokka, mu mbeera ezimu ezitatera kubaawo, kiyinza okusikira omuzadde. Mu mbeera eyo, maama oba taata alina embeera eno alina emikisa nga 50% egy’omwana we okusikira embeera eno.

Bubonero ki obulaga embeera eno?

Obubonero bw’obulwadde bwa Phelan-McDermid syndrome busobola okwawukana nnyo okusinziira ku muntu. Abantu abamu obubonero butono, abamu balina bungi. Obubonero obumu bubaawo ng’azaalibwa, ate obulala bulabika mu buwere oba mu buto. Obubonero buno buyinza okuba obw’omubiri, obw’enneeyisa, obw’amagezi, oba bino byonna nga bigattiddwa wamu.

Omwana wo ayinza okuba n’obubonero nga buno:

• Okulwawo kw’enkulaakulana : Ebintu ng’obutayiringisibwa, obutatuula, obutatambula. Lowooza ku kino, abalongo abamu batandika okwekulukuunya ku myezi 6, abamu batuula ku myezi 9. Naye omwana alina embeera eno ayinza okutwala ekiseera ekiwanvuko katono okukola ebintu bino.
• Okwongera okugumira obulumi : Kino kitegeeza okuwulira obulumi obutono okusinga abalala.
• Obunafu bw’ebinywa (hypotonia) : Omubiri guyinza okuwulira nga guweweevu ate nga gufuuse kizibu.
• Obuzibu mu kwogera : Okulwawo okwogera oba obutasobola kwogera.
• Obuzibu mu tulo : Okukaluubirirwa okwebaka, gamba ng’okuzuukuka ennyo.
• Okutuuyana okutono okusinga okwa bulijjo : Kino kiyinza okuvaako omubiri okubuguma amangu n’okuggwaamu amazzi.
• Okukaluubirirwa okulya oba okumira .
• Ebizibu by’enkola y’okugaaya emmere : Okuziyira enfunda eziwera, okusiiyibwa, n’okulumwa omutima (obulwadde bwa gastroesophageal reflux disease).

Abantu bangi abalina obulwadde bwa Phelan-McDermid syndrome nabo balina obuzibu bwa autism spectrum disorder, kale bayinza n’okufuna obubonero bw’enneeyisa nga:

• Okutunula mu maaso bunafu .
• Okuwulira okutya n'okutya mu mbeera z'abantu .
• Okwagala okukamula ebintu ebitali bya mmere (e.g. eby’okuzannyisa, engoye).
• Hypersensitivity to touch : Okuwulira nga tolina mirembe ng’omuntu akukwatako.

Ebimu ku bintu eby’enjawulo era osobola okubiraba mu ndabika y’abantu abalina embeera eno:

• Amaaso agabbira.
• Ekibikka ky’amaaso ekigwa (ptosis).
• Amatu amanene oba agafulumye mu maaso.
• Engalo eyokubiri n’eyookusatu ziyinza okulabika nga zigatta wamu (syndactyly).
• Okubeera n’emikono oba ebigere ebinene, ebirimu ebinywa.
• Omutwe guwanvuwa ate nga mufunda mu ngeri.
• Ekirevu kifuna ekifaananyi ekisongovu.
• Enjala z’ebigere entono oba ezitali za bulijjo.

Oluusi embeera eno ewerekerwako obulwadde bw’omutima obuzaalibwa n’obuzibu mu kibumba.Tekitera nnyo, abaana bano basobola okufuna ensawo ezijjudde amazzi (arachnoid cysts) mu bwongo bwabwe. Bino bisobola okuleeta puleesa okweyongera munda mu mutwe, ekivaako obutawumula, okukaaba, okulumwa omutwe n’okusannyalala.

Obulwadde buno buzuulibwa butya?

Olw’okuba obubonero bw’obulwadde bwa Phelan-McDermid oluusi buba tebutegeerekeka bulungi, buyinza okuba obuzibu okutegeera. Omwana wo ayinza okwetaaga okukeberebwa emirundi egiwerako nga tannaba kumuzuula bulungi. Omusawo ayinza okukola ebintu nga:

• Okukebera omubiri gw’omwana.
• Okubuuza ku byafaayo by’obujjanjabi bw’omwana ebikwata ku bubonero n’okulwawo okukula.
• Buuza ku byafaayo by‟obujjanjabi bw‟amaka olabe oba waliwo omuntu yenna mu maka abadde n‟embeera eno.
• Saba okukeberebwa obuzaale . Kino kitera okuzingiramu okukwata omusaayi omutono. Kino kiyinza okukozesebwa okulaba oba ekitundu kya chromosome ekyogerwako kibula.

Mu mbeera ezitali nnyingi nnyo, embeera eno eyinza obutava ku chromosome ebula. Wabula, kiyinza okuva ku nkyukakyuka mu ggiini eyitibwa `SHANK3`. Singa tewali kuggyibwako chromosome, omusawo wo ayinza n’okukuwa amagezi okukebera obuzaale buno.

Singa okukebera kukakasa embeera ya `22q13.3 deletion syndrome`, omusawo ayinza okuteesa ku kukeberebwa okulala okuwerako:

• Okukebera obuzaale bw’abazadde bombi : Laba oba kino kintu kya nsikirano oba kibaddewo mu ngeri ya kimpowooze.
• Okukebera obwongo bw’omwana mu MRI (Magnetic Resonance Imaging) oba CT (Computed Tomography) : Okulaba oba waliwo ebintu byonna ng’ekizimba ky’omubiri ekiyitibwa arachnoid cyst ekyogeddwako waggulu.
• Kidney ultrasound : Okukebera oba waliwo obuzibu mu kibumba.
• Echocardiogram : Okukebera oba omutima teguli mu mbeera nnungi.
• Okukebera okuwulira.
• Okukebera amaaso mu bujjuvu.
• Okunoonyereza ku tulo.

Waliwo eddagala erijjuvu eriwonya kino?

Mu butuufu, mu kiseera kino tewali ddagala lyonna eriwonya obulwadde bwa Phelan-McDermid syndrome. Ekigendererwa ekikulu eky’obujjanjabi kwe kufuga obubonero bw’omwana, okumuyamba okukola obulungi nga bwe kisoboka, n’okuziyiza ebizibu byonna ebiyinza okuvaamu.

Ttiimu y’okulabirira omwana wo eyinza okubaamu abakugu ab’enjawulo, omuli:

• Omusawo w’omutima
• Omusawo w’omu lubuto n’ennywanto
• Omusawo w’ekibumba
• Omusawo w’obusimu
• Occupational therapist: Omuntu ayamba abantu okukola emirimu gya buli lunaku nga okulya n’okuwandiika.
• Omusawo w’amagumba (omukugu mu magumba n’ennyondo) .
• Omusawo w’omubiri: Omuntu ayamba okunyweza ebitundu by’omubiri ebikoseddwa.
• Omusawo w’endwadde z’okwogera/olulimi
• Omukugu mu by’endwadde z’omu lubuto

Jjukira nti abakugu bano bonna bakolagana okusobola okulabirira omwana wo mu ngeri esinga obulungi.

Embeera eno esobola okuziyizibwa?

Omuntu bw’amala okuzuulibwa ng’alina embeera eno, mu kiseera kino tewali ngeri yonna gye bayinza kulongoosaamu nkyukakyuka mu buzaale. Wabula mu mbeera etatera kubaawo ng’omu ku bazadde naye alina embeera eno, waliwo ebiseera nga tekinologiya wa IVF oba okukebera nga tebannazaala basobola okukozesebwa okuziyiza okubutuuka ku baana ab’omu maaso.

Bw’oba ​​ggwe oba omuntu mu maka go alina embeera eno, kikulu nnyo okwogera n’omusawo oba omubuulirizi ku buzaale . Bayinza okukunnyonnyola engeri gye kiyinzika okuba nti abaana bo bajja kusikira embeera eno.

Ebiseera eby’omu maaso binaaba bitya singa omwana wange aba n’embeera eno?

Kino si kye kimu ku buli mwana. Kisinziira ku kika ky’obulemu omwana bw’alina n’obuzibu bwe buli.

Ebiva mu mbeera eno tebitera kuba bya bulabe eri obulamu. Kyokka, abantu bangi abalina embeera eno bayinza okwetaaga okujjanjabibwa obulamu bwabwe bwonna n’okuyambibwa mu bantu obutasalako. N’olwekyo, okwagala, okutegeera, n’obuwagizi bw’ab’omu maka bikulu nnyo eri abaana bano.

Omwana nga ono omulabirira otya?

Kikulu okutwala omwana wo ku buli kifo ky’omukugu okutumbula obusobozi bwe. Okuva omwana wo bw’ayinza okuba ng’akendedde ku busobozi bw’okutuuyana, weetegereze bino wammanga:

• Weewale ebbugumu erisukkiridde .
• Omwana muwe amazzi amangi anywe (mukuume obutaggwaamu mazzi).
• Kuuma okuva ku musana obutereevu .

Olw’okuba abantu bangi abalina obulwadde bwa Phelan-McDermid syndrome bagumira obulumi bungi era bazibuwalirwa okumanyisa abantu obutabeera bulungi, beera ku bunkenke okulaba obubonero obulaga nti omwana wo alumizibwa . Bw’olaba ekimu ku bino, kuba essimu y’omusawo. Ziyinza okukuyamba okumanya oba omwana wo alina olubuto oba ekintu ekirala. Obubonero bw’obulumi buyinza okuli:

• Okusirika okusinga bulijjo, obutabeera na bantu bangi.
• Okussa amangu okusinga ku bulijjo.
• Okukaaba oba okubeera nga toteredde okusinga bulijjo.
• Okukwata ennyo ku bitanda oba ebintu ebiriraanyewo.
• Okukuuma omubiri, emikono n’amagulu nga bikaluba era nga tebitambula.
• Obulumi mu maaso (e.g., okuziba amaaso ennyo, okunyiga emimwa).
• Okuwowoggana oba okukuba enduulu.

Kiki ekirala ky’oyinza okubuuza omusawo?

Omwana wo bw’aba alina obulwadde bwa Phelan-McDermid syndrome, osobola okubuuza omusawo ebibuuzo bino:

• Okuggyibwako kuno kw’ensengekera y’obutonde (chromosomal deletion) kusikira oba kubaawo mu ngeri ya kimpowooze?
• Omwana wange alina ebizibu nga omutima, ekibumba oba ebizimba ku bwongo?
• Obulemu bw’omwana wange mu magezi bubakosa ki?
• Omwana wange alina kulaba bakugu ba ngeri ki? Emirundi emeka?
• Waliwo ebibiina ebiwagira ebiyinza okutuyamba okubeera n‟embeera eno?
• Okuwa amagezi okubudaabudibwa ku buzaale?
• Ab’omu maka gaffe abalala basaanidde okukeberebwa obuzaale?

Nsembayo, nnina okugamba nti...

Phelan-McDermid Syndrome mbeera ya buzaale etali ya bulijjo. Kiyinza okuleeta okulwawo kw’okwogera n’okukula, wamu n’obuzibu bw’okuwulira (autism spectrum disorder). Singa omuntu mu maka go azuuliddwa ng’alina obulwadde buno obw’okuggyawo ensengekera y’obutonde (chromosomal deletion syndrome), tosattira . Ttiimu y’abakugu esobola okukuyamba n’omwana wo. Ebigendererwa ebikulu wano kwe kulongoosa enkola y’omwana wo, okuziyiza ebizibu ebiyinza okuvaamu, n’okubuulirira ku buzaale bwe bwe kiba kyetaagisa. Toli wekka , era abantu bangi abasobola okukuyamba mu lugendo luno.

` Obulwadde bwa Phelan-McDermid, Obulwadde bwa Phelan-McDermid, Obulwadde bw’obuzaale, Chromosome, Autism, Okulwawo kw’enkula, SHANK3