Life stories of families with sons and daughters with Angelman syndrome
The Angelman syndrome is a rare neurodevelopmental disorder caused by a gene called UBE3A that is on chromosome 15. This syndrome comes with diverse difficulties that families have to face. In this article, is analyzed through life stories with multiple parallel accounts the daily life of families s...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | Spanish |
| Published: |
Universidad de Salamanca
2020-03-01
|
| Series: | Siglo Cero |
| Subjects: | |
| Online Access: | https://revistas.usal.es/index.php/0210-1696/article/view/22597 |
| _version_ | 1818547791429894144 |
|---|---|
| author | Amaia GOITIA AÑORGA Leire DARRETXE URRITXI Naiara BERASATEGI SANCHO |
| author_facet | Amaia GOITIA AÑORGA Leire DARRETXE URRITXI Naiara BERASATEGI SANCHO |
| author_sort | Amaia GOITIA AÑORGA |
| collection | DOAJ |
| description | The Angelman syndrome is a rare neurodevelopmental disorder caused by a gene called UBE3A that is on chromosome 15. This syndrome comes with diverse difficulties that families have to face. In this article, is analyzed through life stories with multiple parallel accounts the daily life of families sons and daughters with Angelman syndrome. With the help of an emerging categorical system relevant moments in the lives of these people have been analyzed, in regard of: diagnosis, school, communication and opening to the society. |
| first_indexed | 2024-12-12T08:11:24Z |
| format | Article |
| id | doaj.art-f13a6810e00045b7b78c5115d9909951 |
| institution | Directory Open Access Journal |
| issn | 0210-1696 2530-0350 |
| language | Spanish |
| last_indexed | 2024-12-12T08:11:24Z |
| publishDate | 2020-03-01 |
| publisher | Universidad de Salamanca |
| record_format | Article |
| series | Siglo Cero |
| spelling | doaj.art-f13a6810e00045b7b78c5115d99099512022-12-22T00:31:46ZspaUniversidad de SalamancaSiglo Cero0210-16962530-03502020-03-01504233710.14201/scero2019504233718422Life stories of families with sons and daughters with Angelman syndromeAmaia GOITIA AÑORGA0Leire DARRETXE URRITXI1Naiara BERASATEGI SANCHO2Universidad del País VascoUniversidad del País Vasco. Facultad de EducaciónUniversidad del País Vasco. Facultad de EducaciónThe Angelman syndrome is a rare neurodevelopmental disorder caused by a gene called UBE3A that is on chromosome 15. This syndrome comes with diverse difficulties that families have to face. In this article, is analyzed through life stories with multiple parallel accounts the daily life of families sons and daughters with Angelman syndrome. With the help of an emerging categorical system relevant moments in the lives of these people have been analyzed, in regard of: diagnosis, school, communication and opening to the society.https://revistas.usal.es/index.php/0210-1696/article/view/22597enfermedades rarassíndrome de angelmanhistorias de vidafamilias |
| spellingShingle | Amaia GOITIA AÑORGA Leire DARRETXE URRITXI Naiara BERASATEGI SANCHO Life stories of families with sons and daughters with Angelman syndrome Siglo Cero enfermedades raras síndrome de angelman historias de vida familias |
| title | Life stories of families with sons and daughters with Angelman syndrome |
| title_full | Life stories of families with sons and daughters with Angelman syndrome |
| title_fullStr | Life stories of families with sons and daughters with Angelman syndrome |
| title_full_unstemmed | Life stories of families with sons and daughters with Angelman syndrome |
| title_short | Life stories of families with sons and daughters with Angelman syndrome |
| title_sort | life stories of families with sons and daughters with angelman syndrome |
| topic | enfermedades raras síndrome de angelman historias de vida familias |
| url | https://revistas.usal.es/index.php/0210-1696/article/view/22597 |
| work_keys_str_mv | AT amaiagoitiaanorga lifestoriesoffamilieswithsonsanddaughterswithangelmansyndrome AT leiredarretxeurritxi lifestoriesoffamilieswithsonsanddaughterswithangelmansyndrome AT naiaraberasategisancho lifestoriesoffamilieswithsonsanddaughterswithangelmansyndrome |