Angelman maʻi pale

Angelman maʻi pale mea he aaiaoe anomaly (chromosomal mutation), i nā hualoaʻa ma ka lohi ma ka noʻonoʻo 'ana, no ka mea i hanaʻia insufficiently naehana nenoaiu, a? Acaeoey? Neurobiological kahua. No laila, he kanaka, he pinepine akaaka, erratic lima neʻe, ke kāʻili 'ana, hiamoe nee. Kēia maʻi He maʻi, akā, hana hou mea hiki wale nō i loko o ka hanana e panai ai i na kumu o ke kanaka e pono ai no ka oxygen.

Ka maʻi ikeia like me ka hopena o ka noho'na makaainana i ulu chromosome kina, ma muli o ia i ka mutation i loko o ka'ōewe, he mea kekahi hoʻololi iho o ka'ūhū kumuʻiʻo.

I ka lā, Angelman maʻi pale ia lŘlŘ i loko o kekahi mai o he iwakālua tausani nā pēpē. Ua Ua wehewehe aku e:

1. pilikia me ka breastfeeding, no ka mea, i kēia kaʻina pono i ka ōhumu maikai o ka hanu, i mea e pale aku wehena. No laila, i nā keiki,ʻaʻole ponoʻole loaʻa ke kaumaha.

2. O ke kali hou aku i loko o ka ulu ana o kekahi mau Hawaii mākau, ka olelo, noonoo. Aia ka he pilikia i loko o kā lākou aʻo.

3. I ka 80% o ka hihia symptomatic epilepsy. Aia mau tremors, a me uncoordinated neʻeʻana o nā lala, convulsions i hoʻomaka ai, a hiki ia i loko o nā nāʻiʻo a pau o ke kino, a me he Patchy lilo o ka ike paka i.

4. Laugh a maliu oluolu noʻaʻohe kumu.

5. 'aʻe i loko o ka nohona ma kūpono' ana - i ka hewa nui o ka poo a me ka lehalehu t hiʻona, squint, curvature o ka spine.

Angelman maʻi pale ua diagnosed e aaiaoe Ka Ikepili o ka 15th chromosome. Ua Ua hoʻohana 'ia ka wā malaila ua ua hoʻemi Muscle leo i loko o na kamalii uuku, lohi ma ka olelo ana a me ka Hawaii mākau, e like me ka mea kaulana he tremor, ole lala neʻe, pinepine akaaka paha e hele ana ma luna o nā wāwae weheia. I pono keia mau mea DNA methylation, mutation Ka Ikepili a me ka-oaio? Imprintingvogo UBE3A'ōewe.

I ka lā, hana maikaʻiʻole o kēia maʻi i ole, ua ulu. Akā, ma laila nō ka nui o nā hana nona ma ka ulu ana o na keiki me ka noʻonoʻo retardation, e like me ka hoʻomaikaʻi i ko lakou mea e like ai o ke ola.

No ka laʻana, papa me ka defectology a me ka olelo Inc, ua hoʻohana 'physical Inc ma ka hihia o ka Muscle hypotonia, a me hypnotics hoakaka no ka hiamoe kāna hana. I ka ho'āhewa wale hoʻohana pākōlea Luna i ka ia me ka epilepsy (anticonvulsants). No ka mea, o ka malama ana i ka maʻamau functioning o ka naʻau liʻiliʻi i hoʻohana laxatives.

Lālau i me na keiki, mai kekahi kakahiaka nui elemakule, hoʻohana kūikawā papahana e kālele ana ma luna o ka ulu o Hawaii mākau, ke loaʻa maikai hopena.

Ka manaʻolana 'ia no ka hooulu ana o kanaka a me ka maʻi pale hilinaʻi nui ma luna o ka pīhoihoi lākou eʻike umikumamalima chromosome. Kekahi aʻo ia a me ka mākau o ka hoʻoponopono-hana ma ka haʻahaʻa 'ilikai, kekahi e loa e hiki ke kamaʻilio, a hele.

Ke'ōlelo mai, no ka mea, na keiki ka mea i Angelman maʻi pale, wehewehe aku ma kekahiʻano o ka hana: impulsivity, autostimulyatsiya, pilikia i ka pü ana me kanaka. A eia nae ka hapanui o ia mea i e loa kahi e, ka mea, a pau nui launa,ʻoluʻolu, ka mea, aloha e pāʻani ai, no laila ia mea kupono, e ao aku ia ia kakau 'ōlelo, no laila, e ka mea, ua hiki e ana mai iaʻu i kanaka.

Oia ka developmental kāna hana pono kūikawā aʻo, mai ka wā kahua o ka hoʻonaʻauao, like me ka makahiki o ka pilikia ua wale e ulu ana. I ka hana o ka poʻe mea nō Kupanaha, ka mea i kaheaia wale ma ka lima kolohe 'ana a me nā mea kani-ke eʻano pākīkē ma ka hihia o ka misunderstanding. Ka 'ohana ma he mau keiki me ka Angelman maʻi pale pinepine e ae mai i ka nele o ka palapala, akā, e hoʻomanaʻoʻia ai ia i nā mea maʻi pono e hoopuni i ka lewa o ka' elele, a hoomakaukau ia me ka kūpono malama a me ka lapaʻau, a laila, ua hiki ke loaʻa maikaʻi hopena.