ʻO Angelman maʻi maʻi

ʻO Angelman Syndrome (AS) kahi kūlana genetical e kumu i nā pilikia me ke ʻano o ka ulu ʻana o ke kino o ke keiki a me ka lolo. Aia ka maʻi maʻi mai ka hānau ʻana (congenital). Eia naʻe, ʻaʻole pinepine e ʻike ʻia a hiki i kahi o 6 a 12 mau mahina o kou makahiki. ʻO kēia ke ʻike mua ʻia nā pilikia hoʻomohala ma ka hapanui o nā hihia.

Pili kēia ʻano i ka ʻāpana UBE3A.

Hele mai ka hapanui o nā gen i nā pālua. Loaʻa i nā keiki kekahi mai kēlā me kēia makua. I ka hapanui o nā hihia, ʻeleu nā genes ʻelua. ʻO kēia ke ʻano o ka hoʻohana ʻia ʻana o ka ʻike mai nā ʻaoʻao ʻelua e nā hunaola. Me ka UBE3A ʻāpana, hāʻawi nā mākua ʻelua iā ia, akā ʻo ka ʻāpana wale nō i hoʻoili ʻia mai ka makuahine hana.

Kū pinepine ʻo Angelman syndrome ma muli o ka UBE3A ua hala i ka hana ʻole a ka makuahine ma ke ʻano pono. I kekahi mau hihia, kumu ʻia ʻo AS ke loaʻa ʻelua kope o UBE3A mai ka makuakāne mai ka ʻohana, a ʻaʻohe mea mai ka makuahine. ʻO ke kumu ʻaʻole hana kekahi ʻāpana, no ka mea, no ka makuakāne lāua.

I nā keiki hānau hou a me nā pēpē:

• Ka nalowale ʻana o ke kani o ka muscle (floppiness)
• Hānai hānai ʻana
• Heartburn (acid reflux)
• ʻO ka haʻalulu o ka lima a me ka neʻe ʻana o ka wāwae

I nā kamaliʻi liʻiliʻi a me nā keiki nui:

• Ke hele paʻa ʻole a hele wāwae paha
• ʻ Littlelelo iki a liʻiliʻi paha
• Hauʻoli, ʻano pīhoihoi
• ʻAkaʻaka a me ka minoʻaka pinepine ʻana
• ʻO ka lauoho māmā, ka ʻili, a me ke kala o ka maka ke hoʻohālikelike ʻia i ke koena o ka ʻohana
• Hoʻohālikelike ka nui o ke poʻo liʻiliʻi i ke kino, pālahalaha i hope o ke poʻo
• Kīnā koʻikoʻi koʻikoʻi
• Ka hopu ʻana i nā maʻi
• ʻO ka neʻe nui ʻana o nā lima a me nā lālā
• Pilikia hiamoe
• Hoʻokomo ʻia ka ʻelo, drooling
• ʻO ka nau ʻana a me ka neʻe ʻana i ka neʻe mau ʻana
• Nā maka i kau ʻia
• ʻO ka hele wāwae ʻana me nā lima i hāpai a hāpai ʻia i ka lima

ʻO ka hapa nui o nā keiki me kēia maʻi ʻaʻole hōʻike i nā hōʻailona a hiki i kahi o 6 a 12 mau mahina. ʻO kēia ka manawa e ʻike ai nā mākua i ka lohi o ka ulu ʻana o kā lākou keiki, e like me ke kolo ʻana a hoʻomaka paha e kamaʻilio.

Hoʻomaka nā keiki ma waena o 2 a me 5 mau makahiki e hōʻike i nā hōʻailona e like me ka hele wāwae ʻana, ke ʻano hauʻoli, ʻakaʻaka pinepine ʻana, ʻaʻohe ʻōlelo, a me nā pilikia ʻike.

Hōʻike paha nā hōʻike genetic i ka maʻi ʻo Angelman. Nānā kēia mau hoʻāʻo:

• Nā chromosome e nalo nei
• ʻIke DNA e ʻike ai inā kope o ka ʻāpana mai nā mākua ʻelua i kahi ʻano hana ʻole a i ʻole hana
• ʻO ka mutation Gene i ka kope a ka makuahine o ka ʻāpana

Hiki i nā hoʻokolohua ʻē aʻe ke:

• Koʻo MRI
• ʻEELE
  

ʻAʻohe lāʻau lapaʻau no ka maʻi ʻo Angelman. Kōkua ka lāʻau i ka mālama ʻana i nā pilikia olakino a me nā ulu ʻana i hopena ʻia e ke ʻano.

• ʻO nā lāʻau lapaʻau anticonvulsant kōkua i ke kāohi ʻana i ka hopu ʻana
• Hiki i ke olakino lawehala ke mālama i ka hyperactivity, nā pilikia moe, a me nā pilikia ulu
• Hoʻoponopono ka hana a me ka haʻiʻōlelo i nā pilikia ʻōlelo a aʻo i nā mākau ola
• Kōkua ka lāʻau hoʻoikaika kino me ka pilikia hele a me ka neʻe ʻana
  

ʻO Angelman Syndrome Foundation: www.angelman.org

AngelmanUK: www.angelmanuk.org

Noho ka poʻe me AS kokoke i kahi ola maʻamau. He nui nā makamaka a launa pū kaiāulu. Kōkua ka lāʻau i ka hoʻomaikaʻi ʻana i ka hana. ʻAʻole hiki i ka poʻe me AS ke noho i kā lākou iho. Eia nō naʻe, hiki iā lākou ke aʻo i kekahi mau hana a noho pū me nā poʻe ʻē aʻe i kahi hoʻonohonoho hoʻomalu.

Komo pū nā pilikia:

• Kaʻi ikaika ʻana
• ʻO reflux Gastroesophageal (heartburn)
• Scoliosis (ʻūlū ʻōiwi)
• ʻO ka hōʻeha pōʻino ma muli o nā neʻe ʻole i kāohi ʻia

Kāhea i kāu kahu mālama ola inā loaʻa i kāu keiki nā ʻōuli o kēia ʻano.

ʻAʻohe ala e pale aku ai iā Angelman syndrome. Inā he keiki kāu me AS a i ʻole ka moʻolelo ʻohana o kēia ʻano, makemake paha ʻoe e kamaʻilio pū me kāu mea hāʻawi ma mua o ka hāpai ʻana.

Dagli AI, Mueller J, Williams CA. ʻO Angelman maʻi maʻi. Nā Manaʻo GeneReview. Seattle, WA: Kulanui o Wakinekona; 2015: 5. PMID: 20301323 www.ncbi.nlm.nih.gov/pubmed/20301323. Hoʻohou i Kēkēmapa 27, 2017. Loaʻa iā ʻAukake 1, 2019.

Kumar V, Abbas AK, Aster JC. Nā maʻi genetic a me nā pediatric. I: Kumar V, Abbas AK, Aster JC, eds. ʻO Robbins Basic Pathology. 10 o ka lā. Piladelapia, PA: Elsevier; 2018: chap 7.

ʻO Madan-Khetarpal S, ʻo Arnold G. Nā maʻi genetic a me nā kūlana dysmorphic. I: Zitelli BJ, McIntire SC, Nowalk AJ, eds. ʻO Zitelli lāua ʻo Davis 'Atlas o ka Pediatric Physical Diagnosis. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 1.

Nussbaum RL, McInnes RR, Willard HF. ʻO ke kumu chromosomal a me genomic o nā maʻi: nā maʻi o nā autosome a me nā chromosome wahine. I: Nussbaum RL, McInnes RR, Willard HF, hua. Thompson & Thompson Genetics i ka Lapaʻau. 8th ed. Piladelapia, PA: Elsevier; 2016: chap 6.