Rett Syndrome

ʻO Rett Syndrome (RTT) kahi maʻi o ka ʻōnaehana hopohopo. Ke alakaʻi nei kēia ʻano i nā pilikia hoʻomohala i nā keiki. Hoʻololi ka hapa nui i nā mākau ʻōlelo a me ka hoʻohana lima.

Loaʻa ka RTT i nā manawa āpau i nā kaikamahine. ʻIke ʻia paha he autism a i ʻole he palsy cerebral.

ʻO ka hapa nui o nā hihia RTT ma muli o kahi pilikia i ka ʻāpana i kapa ʻia ʻo MECP2. Aia kēia ʻāpana ma ka X chromosome. Loaʻa i nā wahine he 2 X chromosome. ʻOiai ke loaʻa kahi kīnā i hoʻokahi chromosome, he mea maʻamau ka X chromosome ʻē aʻe e ola ai ke keiki.

ʻO nā kāne i hānau ʻia me kēia ʻāpana hemahema ʻaʻohe lua o ka chromosome X e pani ai no ka pilikia. No laila, maʻa mau ka hemahema i ka hāʻule ʻole o ka hānau, hānau hānau ʻole, a i ʻole make mua loa.

Loaʻa i kahi pēpē me RTT ka hoʻomohala maʻamau no nā 6 i ka 18 mau makahiki mua. Hōʻailona nā hōʻailona mai ke akahai a i ke koʻikoʻi.

Pākuʻi ʻia paha nā ʻōuli:

• Nā pilikia hanu, i ʻoi aku paha ka maikaʻi me ke koʻikoʻi. Maʻamau ka hanu ʻana i ka wā hiamoe a me nā ʻano maʻamau ke ala aʻe.
• Hoʻololi i ka hoʻomohala.
• ʻO ka lawaiā nui a me ka drooling.
• Floppy lima a me nā wāwae, ʻo ia ka pinepine o ka hōʻailona.
• Nā pilikia kīnā o ka ʻike a me nā pilikia aʻo.
• Scoliosis.
• Haʻalulu, kūpaʻa ʻole, hele wāwae ʻoʻoleʻa a wāwae wāwae hoʻi e hele wāwae ana.
• Ka hopu ʻana i nā maʻi.
• Hoʻonui ka ulu ʻana o ke poʻo i 5 a 6 mau makahiki o kou mau makahiki.
• Ka nalowale o nā hiʻohiʻona hiamoe maʻamau.
• ʻO ka nalowale o nā neʻe lima pono: No ka laʻana, hoʻololi ʻia ka hopu e hoʻohana ai i nā mea liʻiliʻi e nā neʻe lima hou e like me ka ʻūlima ʻana a i ʻole ke kau mau ʻana o nā lima i ka waha.
• Lilo o ka pili kaiāulu.
• Ke hoʻomau nei, ka paʻa paʻa paʻa nui a me ka reflux gastroesophageal (GERD).
• Maikaʻi ka holo ʻana i hiki ke alakaʻi i ke anuanu a me nā bluish lima a me nā wāwae.
• Nā pilikia ulu ʻōlelo koʻikoʻi.

MEA KAHAKAHA: ʻO nā pilikia me nā lau hanu ka mea hoʻonāukiuki loa a paʻakikī hoʻi i nā mākua e nānā. No ke aha lākou e hana ai a me ka mea e hana ai e pili ana iā lākou ʻaʻole maopopo maikaʻi. Paipai ka hapanui o ka poʻe loea i ka noho mālie o nā mākua ma o ka hanana o ka hanu maʻamau e like me ka hanu ʻana. Hiki ke kōkua iā ʻoe e hoʻomanaʻo iā ʻoe iho e hoʻi mau ana ka hanu maʻamau a e maʻa kāu keiki i ke ʻano hanu maʻamau.

Hana ʻia paha ka hoʻāʻo genetic e nānā no ka hemahema o nā ʻāpana. Akā, ʻoiai ʻaʻole ʻike ʻia ka hemahema i kēlā me kēia kanaka me ka maʻi, hoʻokumu ʻia ka maʻi o RTT ma nā ʻōuli.

Aia kekahi mau ʻano RTT like ʻole:

• ʻAhaʻole
• Kaulike (kū i nā pae diagnostic)
• Kūpono (ʻike ʻia kekahi mau ʻōuli ma waena o nā makahiki 1 a me 3)

Hoʻokaʻawale ʻia ʻo RTT ma ke ʻano he atypical inā:

• Hoʻomaka ia ma ka wanaʻao (ma hope koke o ka hānau ʻana) a i ʻole ka hopena (ma mua o 18 mau mahina o ka makahiki, i kekahi manawa ua hala a 3 a 4 mau makahiki paha)
• Mālie nā pilikia kamaʻilio a me ka mākaukau lima
• Inā ʻike ʻia i ke keikikāne (kākaʻikahi loa)

Hiki ke hoʻopili ʻia i ka mālama ʻana:

• Kōkua me ka hānai ʻana a me ka diapele ʻana
• Nā hana e mālama ai i ka constipation a me GERD
• ʻO ka hoʻōla kino e kōkua ai i ka pale ʻana i nā pilikia lima
• Nā hana hoʻoikaika kaumaha me scoliosis

Hiki i nā hānai hoʻohui ke kōkua me ka ulu lohi. Pono paha kahi paipu hānai inā hanu ke keiki i ka (aspirates) ʻai. ʻO kahi papaʻai kiʻekiʻe i nā calorie a me nā momona i hui pū ʻia me nā paipu hānai hiki ke kōkua i ka hoʻonui i ke kaumaha a me ke kiʻekiʻe. Hiki i ke kaupaona ʻana ke hoʻomaikaʻi i ka makaʻala a me ka launa pū ʻana.

Hiki ke hoʻohana ʻia nā lāʻau e mālama ai i ka hopu ʻana. Hiki ke hoʻāʻo ʻia i nā mea pākuʻi no ka paʻa paʻa, makaʻala, a i ʻole nāʻiʻo paʻa.

ʻO ka Stem cell therapy, hoʻokahi a i ʻole hui pū ʻia me ka genotherapy, kahi lapaʻau hope loa.

Hiki i nā hui aʻe ke hāʻawi i ka ʻike hou aku ma Rett Syndrome:

• International Rett Syndrome Foundation - www.rettsyndrome.org
• National Institute of Neurological Disorder a me ka hahau - www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Rett-Syndrome-Fact-Sheet
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/rett-syndrome

E hele mālie ka maʻi a hiki i nā makahiki ʻōpio. A laila, hoʻomaikaʻi paha nā ʻōuli. ʻO kahi laʻana, ʻo nā hopu ʻana a i ʻole nā ​​pilikia hanu e hoʻemi i ka hopena o nā ʻōpio.

Hoʻololi nā lohi hoʻomohala. ʻO ka maʻamau, noho kūpono kahi keiki me RTT, ʻaʻole naʻe e kolo. No ka poʻe e kolo, hana nā mea he nui i ka scooting ma ko lākou tummy me ka hoʻohana ʻole ʻana i ko lākou mau lima.

Pēlā nō, hele wāwae kekahi mau keiki ma waena o nā makahiki maʻamau, ʻo kekahi:

• Hoopanee ʻia
• Mai aʻo e hele kaʻawale i nā mea āpau
• Mai aʻo e hele wāwae a hiki i ka wā ʻōpio a i ʻole ke ʻōpio

No kēlā mau keiki e aʻo e hele wāwae i ka manawa maʻamau, mālama kekahi i kēlā hiki i ko lākou ola, ʻoiai e lilo ana nā keiki i ka mākau.

ʻAʻole aʻo maikaʻi ʻia nā mea ola, ʻoiai ke ola ʻana ma ka liʻiliʻi a hiki i ka waena o 20 mau paha. ʻO ka lōʻihi o ke ola no nā kaikamahine ma waena paha o 40. Pili pinepine ka make i ka hopu ʻana, ka maʻi ʻaʻai, ka maʻi ʻaʻai ʻole, a me nā ulia pōpilikia.

Kāhea i kāu kahu mālama ola inā ʻoe:

• Loaʻa nā hopohopo e pili ana i ka ulu ʻana o kāu keiki
• E hoʻomaopopo i ka nele o ka hoʻomohala maʻamau me ka mākau a i ʻole ka mākau ʻōlelo i kāu keiki
• E noʻonoʻo i kāu keiki i kahi pilikia olakino e pono ai ka lāʻau

RTT; Scoliosis - Rett Syndrome; ʻO ke kīnā ʻole o ka noʻonoʻo - Rett Syndrome

Kwon JM. Nā maʻi Neurodegenerative o ka wā kamaliʻi. I: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 20 ouk. Piladelapia, PA: Elsevier; 2016: chap 599.

Mink JW. ʻO nā maʻi Congenital, developmental, a me nā neurocutaneus. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 25th hua. Piladelapia, PA: Elsevier Saunders; 2016: chap 417.