Ingabe ingane yakho inalezi zimpawu? Ake sifunde nge-Smith-Magenis Syndrome!

Ingabe ngezinye izikhathi unemibuzo mayelana nokukhula nokuziphatha kwengane yakho encane? Kunezimo ezithile ezingavamile, kodwa ezibalulekile ezingathinta izimpilo zezingane zethu. Namuhla, sizokhuluma ngesimo abantu abaningi abangakaze bezwe ngaso, kodwa okufanele kakhulu ukwazi ngaso. Lokhu kubizwa ngokuthi i-Smith-Magenis Syndrome.

Iyini ngempela i-Smith-Magenis Syndrome?

Kalula nje, i-Smith-Maginnis syndrome iyisimo sokukhula esithinta izingxenye ezahlukene zomzimba wengane. Ibangela kakhulu ukukhubazeka kwengqondo, okuwukukhubazeka kokufunda. Ngaphezu kwalokho, laba bantwana bangase babe nezici zobuso ezihlukile, izinkinga zokuziphatha, futhi ikakhulukazi izinkinga zokulala.

Cabanga nje, umzimba wethu wakhiwe ngamaseli amancane. Lawa maseli anento efana nencwadi yemiyalelo, okuyi-DNA yethu. Izakhi zethu zofuzo zigcinwa ezingxenyeni zale DNA ezibizwa ngokuthi ama-chromosome. I-Smith-Magnis syndrome yenzeka lapho ingxenye encane kakhulu ye-chromosome ephethe isakhi esisodwa esibalulekile isuswa ku-DNA ekuqaleni kokukhulelwa komntwana. Yilokhu okuthinta imisebenzi eyahlukahlukene yomzimba.

Ubani ongaba nalesi simo? Sivame kangakanani?

I-Smith-Magenis Syndrome ingathinta noma ubani. Ngokuvamile iyenzeka lapho umntwana ekhulelwa, lapho iqanda likamama nesidoda sikababa kuhlangana, futhi kwenzeka ushintsho lwezakhi zofuzo (oluzenzakalelayo noma "olusha"). Lokhu kusho ukuthi ezimweni eziningi, akekho emndenini oke waba nalesi simo ngaphambili.

Kodwa, akuvamile kakhulu, okungukuthi, akuvamile kakhulu, ingane ingazuza lesi simo kubazali bayo. Wazi kanjani? Ngezinye izikhathi, noma ngabe omunye wabazali akanazo izimpawu, amangqamuzana abo obulili (amaqanda noma isidoda) kuphela angaba nalolu shintsho lwezakhi zofuzo. Amanye amangqamuzana omzimba awanalo lolu shintsho. Lokhu kubizwa ngokuthi i-germline mosaicism. Kodwa lokhu akuvamile kakhulu.

Uma sibheka ukuthi lesi simo sivame kangakanani, i-Smith-Maginnis syndrome ithinta cishe umuntu oyedwa kubantu abayi-15,000 kuya kwabayi-25,000 emhlabeni jikelele. Lokhu kusho ukuthi lesi yisimo esingavamile kakhulu.

Ziyini izimpawu zalokhu? Ungachaza kancane?

Izimpawu ze-Smith-Magenis Syndrome zingahluka kuye ngengane, futhi ubukhali bazo bungahluka kusukela kobuncane kuya kobukhulu. Lezi zimpawu zithinta izinhlelo ezahlukene emzimbeni wengane.

Izici zobuhlakani nezomzimba

• Ukukhubazeka kwengqondo: Lesi yisici esiyinhloko. Kungase kube nokubambezeleka noma ubunzima ezintweni ezifana nekhono lokufunda nokuqonda.
• Ubude obufushane: Kungaba mfushane kunezinye izingane ezineminyaka efanayo.
• I-Scoliosis: Ukugoba komgogodla ohlangothini kungabonakala.
• Ukuncipha komuzwa wobuhlungu noma izinga lokushisa: Ezinye izingane zingase zingazizwa ubuhlungu noma zingazizwa zishisa noma zibanda kakhulu njengezinye.
• Izwi elinomsindo noma elihoshozelayo: Kungase kube noshintsho ezwini.
• Izinkinga zokuzwa kanye/noma zokubona: Kungase kube nokukhubazeka kokuzwa, ukukhubazeka kokubona (isib., ukudinga ukugqoka izibuko).
• Ukwanda kwesisindo ngokweqile: Isisindo somzimba singanda ngokungadingekile, ikakhulukazi ngesikhathi sobusha.

Izimpawu ezingabonakala ngesikhathi sobuntwana

Ezinye izimpawu zingase zivele ngisho nasebuntwaneni:

• Imisipha ebuthakathaka / `hypotonia`: Umzimba womntwana ungase uzizwe ubuthakathaka kancane.
• Ukubambezeleka kokukhula: Imisebenzi ehambisana nobudala njengokuphakamisa ikhanda, ukugingqa, nokuhlala phansi ingase ibambezeleke.
• Ukusabela okungekuhle: Ezinye izimpendulo ezizenzakalelayo zingase ziphazamiseke.
• Izinselele zokudla: Ingane ingaba nobunzima bokuncela noma ukugwinya.
• Ukukhala njalo: Kungase kukhala kaningi kunezinye izingane.
• Ukulala isikhathi eside kanye nokozela emini.

Izici zobuso ezithile

Izingane ezine-Smith-Maginnis syndrome zinezici eziningana zobuso ezihlukile . Lokhu kuvame ukubonakala lapho ingane isikhulile kancane, isebuntwaneni obuphakathi.

• Ubuso obunesimo sesikwele
• Izihlathi ezigcwele
• Amehlo atshonile
• Umlomo ogobile/ukuhwaqabala okubheke phansi
• Ibhuloho eliyisicaba lamakhala
• Ukuvela komhlathi ongezansi, okungukuthi, isilevu, kuphuma kancane.

Ngenxa yalesi simo sobuso, ezinye izingane zingase zibe nezinkinga zamazinyo.

Izinkinga zokulala

Lokhu kuyinselele kubazali abaningi. Izinsana, izingane ezincane, kanye nabantu abadala abane-Smith-Maginnis syndrome babhekana nezinkinga ezahlukene zokulala .

• Ubunzima bokulala nokuhlala ulele.
• Ukuzizwa ulele kakhulu emini.
• Ukuvuka njalo ebusuku.

Kutholakale ukuthi lezi zinguquko emaphethini okulala zihlobene nezinguquko emaphethini okukhiqizwa kwehomoni i-melatonin, elawula ukulala, emzimbeni wethu.

Izici ezihlobene nemizwa nokuziphatha

Ezinye izici ezithile zingabonakala nasemizweni nasekuziphatheni kwalaba bantwana:

• Ubuntu obunothando kakhulu: Ungaziphethe ngendlela enothando kakhulu.
• Ukuzigona: Ungabonakala uzivama ukugona.
• Ukucasuka noma ukuqhuma njalo.
• Ukuziphatha okunolaka: Izinto ezinjengokuzilimaza (isib. ukuluma isandla/isihlakala, ukushaya ikhanda) noma ukushaya abanye.

Ngezinye izikhathi, laba bantwana bangase babe nezinye izimo zokuziphatha, njenge -ADHD (Attention-Deficit/Hyperactivity Disorder) noma i-Autism Spectrum Disorder .

Izimpawu ezinzima ezingavamile ukubonwa

Ezimweni ezingavamile kakhulu nezinzima, ukusebenza kwenhliziyo nezinso kwengane nakho kungathinteka. Ukuquleka nakho kungavela.

Kungani kwenzeka i-Smith-Magenis Syndrome? Iyini imbangela?

Imbangela eyinhloko yalesi simo ushintsho ohlelweni lwethu lwezakhi zofuzo. Uma sikhuluma iqiniso, kukhona isakhi sofuzo esibizwa ngokuthi `RAI1` (`retinoic acid-induced 1 gene`) , futhi izinguquko kulolo sakhi sofuzo ziyimbangela yalokhu. Lesi sakhi sofuzo `RAI1` sinesibopho sokukhiqiza amaprotheni afundisa amaseli emzimbeni wethu ukuba enze imisebenzi ehlukahlukene. Nakuba lesi sakhi sofuzo singakaqondakali ngokugcwele, izifundo zibonisa ukuthi lesi sakhi sofuzo sibalulekile ekuthuthukisweni nasekusebenzeni kwezingxenye ezahlukene zomzimba wengane. Yingakho izimpawu zalesi sifo zisakazeke kangaka.

Ezimweni eziningi, okungukuthi , cishe ku-90% wezingane ezine-Smith-Maginnis syndrome, ingxenye yengalo emfushane (p) ye-chromosome 17 (i-chromosome 17) equkethe i-RAI1 gene ayikho (ukususwa) (endaweni engu-17p11.2). Lokhu kususwa kwenzeka ngokuzenzekelayo noma nge-de novo, okungukuthi, lapho iqanda likamama nesidoda sikababa kuhlangana ngesikhathi sokukhulelwa.

Akuvamile kakhulu, izingxenye ze-chromosome zingaqhekeka futhi zihambe (ukudluliselwa) ngesikhathi sokuthuthukiswa kombungu kwasekuqaleni. Kubantwana abangu-10% abasele, esikhundleni sokuthi i-gene ye-RAI1 ingabi khona, kwenzeka uguquko ku-gene uqobo . Lokhu kubangela ushintsho esakhiweni se-DNA yengane kuleyo ndawo ethile yezakhi zofuzo.

Lesi simo sitholakala kanjani? (Ukuxilongwa)

I-Smith-Magenis Syndrome ivame ukutholakala ngesikhathi sobuntwana, lapho izimpawu ziba sobala kakhulu. Udokotela wengane yakho uzokubuza ngezimpawu zengane yakho, athathe umlando ophelele wezokwelapha, bese ehlola ingane yakho.

Ukuhlolwa kwegazi ngofuzo kubalulekile ukuqinisekisa lesi simo nokususa ezinye izimo ezinezimpawu ezifanayo.

Yiziphi izindlela zokwelapha i-Smith-Magenis Syndrome?

Ukwelashwa kwalesi simo kugxile ekunciphiseni izimpawu zengane kanye nokuyisiza iphile kahle ngangokunokwenzeka. Izindlela zokwelapha zingahluka kuye ngengane.

Nazi ezinye izindlela zokwelapha ezivamile:

• Ukudlulisela ingane ezinhlelweni zokungenelela kusenesikhathi ngaphambi kweminyaka emi-3 kanye nezinhlelo zemfundo ngemva kweminyaka emi-3. Lokhu kusiza ingane ukuba inqobe izigaba zokukhula kanye nezemfundo.
• Khuthaza ukuzibandakanya kwengane ngenkuthalo ekhaya nasemphakathini.
• Ukuthola ukwelashwa ngaphandle kwesibhedlela . Isibonelo:
• Ukwelashwa kolimi lokukhuluma
• Ukwelashwa kokuziphatha
• Ukwelashwa ngokomzimba
• Ukwelashwa emsebenzini
• Ukunikeza imithi yezimpawu zezinye izimo ezihambisanayo, njenge-ADHD noma izinkinga zokulala.
• Ukugqoka izibuko zezinkinga zokubona.
• Ukufakwa kwamapayipi endlebe ngokuhlinzwa ukuze kuvinjelwe izifo zendlebe futhi kuqashwe ukulahlekelwa ukuzwa.
• Gcina ukudla okunempilo nokulinganiselayo futhi uvivinye umzimba njalo ukuze ulawule isisindo.

Udokotela wengane yakho uzokwakha uhlelo lokwelashwa oluqondene nezidingo zengane yakho.

Iqembu lokwelapha

Ngenxa yokuthi laba bantwana banezimpawu ezithinta izingxenye ezahlukene zomzimba wabo, ukwelashwa kungadinga ithimba lodokotela abahlukene kanye nochwepheshe bezempilo . Leli thimba lingafaka:

• Udokotela wezingane nabanye ochwepheshe bezingane
• Udokotela ohlinzayo (uma kudingeka)
• Udokotela wamehlo
• Udokotela Wezindlebe
• Isazi sokusebenza kwengqondo
• Isazi sokudla okunempilo
• Isazi sezifo zokukhuluma
• Umeluleki wezokwelapha emsebenzini kanye nomeluleki wezokwelapha ngokomzimba

Ingabe i-Melatonin iyasiza ngezinkinga zokulala?

I-Melatonin iyi-hormone ekhiqizwa yimizimba yethu esisiza silale. Izithako ze-Melatonin zingasiza ingane yakho ukuba ilale futhi zilawule umjikelezo wayo wokulala nokuvuka. Uma ingane yakho inenkinga yokulala ngenxa ye-Smith-Magnis syndrome, khuluma nodokotela wakho ngokuyinika isithako se-melatonin ngaphambi kokulala ukuze isize ilale kahle ebusuku. Kodwa ungaqali lutho ngaphandle kokubuza udokotela wakho kuqala, kulungile?

Ingabe lesi simo singavinjelwa?

Ngeshwa, i-Smith-Magenis Syndrome ayinakuvinjelwa.Ngenxa yokuthi lesi yisimo sofuzo, izinguquko ku-DNA yengane zenzeka ngokungahleliwe nangokungalindelekile. Kodwa-ke, kunezindlela eziningi zokwelashwa, zomzimba nezokuziphatha ezingasiza ingane ukuthi ilawule izimpawu futhi iphile impilo egcwele.

Yini engingayilindela uma ingane yami inalesi simo? (Isibikezelo)

Uma ingane ine-Smith-Maginnis syndrome, ukubikezela kuncike ebunzimeni bezimpawu. Abanye abantu abanalesi simo bangaphila ngokuzimela ngandlela thile ngokusekelwa okulinganiselwe okuvela emndenini, kubangani nakubanakekeli. Bangaphila nokuphila impilo evamile.

Kodwa-ke, ezinye izingane zingadinga ukwesekwa okwengeziwe kukho konke ukuphila kwazo. Kungase kube ngcono ukuhlala endaweni yeqembu noma emphakathini wokunakekelwa kwezingane. Zizodinga ukuphathwa kwezimpawu impilo yonke kanye nokunakekelwa kokuvimbela ukuze kusizwe ingane iphile impilo enempilo neyanelisayo.

Ingabe i-Smith-Magenis Syndrome ingelapheka ngokuphelele?

Cha, i-Smith-Magenis Syndrome ayinakwelapheka ngokuphelele ngoba ibangelwa izinguquko ezingahleliwe ku-DNA yengane. Kodwa-ke, ithimba lezokwelapha lengane yakho lizohlinzeka ngezinketho zokwelapha ezizimele ukusiza ukuphatha izimpawu kukho konke ukuphila kwayo.

Yiziphi izikhathi okudingeka ubonane nodokotela ngazo?

Uma ingane yakho ikhombisa noma yiziphi zalezi zimpawu, bheka udokotela ngokushesha:

• Uma ingane izilimaza noma inolaka ngokweqile.
• Uma izinyathelo zokukhula ezihambisana neminyaka ziphuthelwa.
• Uma ubonisa ukucindezeleka okukhulu noma ukukhubazeka ekhaya kanye/noma esikoleni.
• Uma ungakwazi ukulala ebusuku noma unenkinga yokuhlala uphapheme emini.

Kunini lapho kudingeka uye e-Emergency Treatment Unit (ETU) ?

Yiya egumbini lezimo eziphuthumayo ngokushesha uma usesimweni esinjalo:

• Uma ingane inesifo sokuwa.
• Uma ukushaya kwenhliziyo kungajwayelekile.
• Uma ingane ingadli noma ibonakala iphelelwe amanzi emzimbeni.

Yimiphi imibuzo ebalulekile okufanele uyibuze udokotela?

Uma uvakashela udokotela, ungabuza imibuzo efana nale:

• Ngingayisekela kanjani ingane yami?
• Yini okufanele ngiyenze uma ingane yami iphuthelwa yizinyathelo zokukhula?
• Yiziphi izimpawu okufanele ngizazi ngokukhethekile?
• Ngingamvikela kanjani ingane yami uma ithukuthele?
• Ingabe ikhona imiphumela emibi ekwelashweni okunconywayo?

Ekugcineni, Umyalezo Wokuya Ekhaya

Ukuthola ukuthi ingane yakho inalesi simo sokukhula kungaba yinto enzima kakhulu. Kujwayelekile kakhulu. Awuwedwa. Ukujoyina amaqembu okusekela lapho abazali nabanakekeli bezingane ezinalesi simo behlangana khona kungakunikeza amandla amakhulu, ulwazi, kanye nokwabelana ngolwazi.

Nakuba kungekho ikhambi le-Smith-Magenis Syndrome, kukhona ukwesekwa kwempilo yonke okutholakalayo ukusiza ingane yakho ifinyelele amandla ayo aphelele futhi ilawule izimpawu zayo. Ithimba lezokwelapha lengane yakho lizokuqondisa kulokhu. Ungapheli amandla!

I- Smith-Magenis Syndrome, i-Smith-Magenis Syndrome, isifo sofuzo, ukubambezeleka kokukhula, izinkinga zokuziphatha, izinkinga zokulala, i-RAI1 gene