软骨发育不全儿童——从生物学和教育学角度的跨学科方法

I. Wojda, Anna Mikler-Chwastek
{"title":"软骨发育不全儿童——从生物学和教育学角度的跨学科方法","authors":"I. Wojda, Anna Mikler-Chwastek","doi":"10.5604/01.3001.0014.5019","DOIUrl":null,"url":null,"abstract":"The current work is an attempt to look at the problem of achondroplasia in a holistic and thus interdisciplinary way. Achondroplasia is a genetically determined disease caused by a mutation in the gene encoding the FGFR3 receptor. We have attempted to describe the biological causes of achondroplasia, addressing those issues in human biology that are necessary to understand the reasons for short stature. We also describe the chances and mechanisms of inheriting this disease. In addition, the description of the structure of a small child and his or her physical abilities which is included in the article will be helpful for the parents and in educational institutions. The children can function well in pre-school and school environments, as there are no indications for individual teaching. However, they may struggle with social and emotional difficulties, as short stature may cause problems with self-esteem, and may also be a barrier in building peer relationships. A holistic view of a child affected by achondroplasia is important to honestly support their development and education.\n\n","PeriodicalId":165431,"journal":{"name":"Men Disability Society","volume":"19 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2020-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A child with achondroplasia – interdisciplinary approach from the perspective of biology and pedagogy\",\"authors\":\"I. Wojda, Anna Mikler-Chwastek\",\"doi\":\"10.5604/01.3001.0014.5019\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"The current work is an attempt to look at the problem of achondroplasia in a holistic and thus interdisciplinary way. Achondroplasia is a genetically determined disease caused by a mutation in the gene encoding the FGFR3 receptor. We have attempted to describe the biological causes of achondroplasia, addressing those issues in human biology that are necessary to understand the reasons for short stature. We also describe the chances and mechanisms of inheriting this disease. In addition, the description of the structure of a small child and his or her physical abilities which is included in the article will be helpful for the parents and in educational institutions. The children can function well in pre-school and school environments, as there are no indications for individual teaching. However, they may struggle with social and emotional difficulties, as short stature may cause problems with self-esteem, and may also be a barrier in building peer relationships. A holistic view of a child affected by achondroplasia is important to honestly support their development and education.\\n\\n\",\"PeriodicalId\":165431,\"journal\":{\"name\":\"Men Disability Society\",\"volume\":\"19 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-12-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Men Disability Society\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5604/01.3001.0014.5019\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Men Disability Society","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5604/01.3001.0014.5019","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0

摘要

目前的工作是一个尝试,看看在一个整体的问题,因此跨学科的方式软骨发育不全。软骨发育不全是一种由编码FGFR3受体的基因突变引起的遗传病。我们试图描述软骨发育不全的生物学原因,解决人类生物学中理解身材矮小的原因所必需的那些问题。我们还描述了遗传这种疾病的机会和机制。此外,文章中对小孩子的结构和他或她的身体能力的描述将对父母和教育机构有所帮助。孩子们可以很好地在学前和学校环境中发挥作用,因为没有个别教学的迹象。然而,他们可能会在社交和情感上遇到困难,因为身材矮小可能会导致自尊问题,也可能成为建立同伴关系的障碍。对软骨发育不全儿童的整体看法对于诚实地支持他们的发展和教育是重要的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A child with achondroplasia – interdisciplinary approach from the perspective of biology and pedagogy
The current work is an attempt to look at the problem of achondroplasia in a holistic and thus interdisciplinary way. Achondroplasia is a genetically determined disease caused by a mutation in the gene encoding the FGFR3 receptor. We have attempted to describe the biological causes of achondroplasia, addressing those issues in human biology that are necessary to understand the reasons for short stature. We also describe the chances and mechanisms of inheriting this disease. In addition, the description of the structure of a small child and his or her physical abilities which is included in the article will be helpful for the parents and in educational institutions. The children can function well in pre-school and school environments, as there are no indications for individual teaching. However, they may struggle with social and emotional difficulties, as short stature may cause problems with self-esteem, and may also be a barrier in building peer relationships. A holistic view of a child affected by achondroplasia is important to honestly support their development and education.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信