PDF(Pubmed)
Abstract：
BACKGROUND: Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families. Despite these developments, anecdotal reports suggest there are substantial gaps in the services and supports provided to parents of children with Usher syndrome. The current study investigated the support needs of parents of children with Usher syndrome Type 1 when their child was aged 0 to 5 years.
METHODS: Purposive sampling was used, and six semi-structured interviews were conducted with Australian parents of children with Usher syndrome, Type 1. Data was analysed using modified reflexive thematic analysis.
RESULTS: Four key themes were identified as being central to the support needs of parents of children with Usher syndrome aged 0 to 5 years. (1) Social Needs referred to parents\' need for various sources of social support, (2) Informational Needs described the lack of information parents received regarding Usher syndrome from treating professionals, (3) Practical Needs included supports needed to assist parents in managing the day-to-day tasks of caring for a child with a disability, and (4) Emotional Needs represented the emotional support (both formal and informal) that parents needed to be a positive support to their child.
CONCLUSIONS: Findings provide rich information for relevant support groups, policy makers, individual healthcare professionals, and professional governing bodies regarding the education of stakeholders and the development and implementation of best-practice treatment guidelines.
METHODS: Purposive sampling was used, and six semi-structured interviews were conducted with Australian parents of children with Usher syndrome, Type 1. Data was analysed using modified reflexive thematic analysis.
RESULTS: Four key themes were identified as being central to the support needs of parents of children with Usher syndrome aged 0 to 5 years. (1) Social Needs referred to parents\' need for various sources of social support, (2) Informational Needs described the lack of information parents received regarding Usher syndrome from treating professionals, (3) Practical Needs included supports needed to assist parents in managing the day-to-day tasks of caring for a child with a disability, and (4) Emotional Needs represented the emotional support (both formal and informal) that parents needed to be a positive support to their child.
CONCLUSIONS: Findings provide rich information for relevant support groups, policy makers, individual healthcare professionals, and professional governing bodies regarding the education of stakeholders and the development and implementation of best-practice treatment guidelines.
摘要：
背景：基因检测的进步导致Usher综合征现在比过去更早被诊断，能够为儿童和家庭提供早期干预和支持。尽管有这些发展,轶事报告显示,在为Usher综合征患儿父母提供的服务和支持方面存在巨大差距.本研究调查了Usher综合征1型儿童的父母在0至5岁时的支持需求。
方法：使用目的抽样，对Usher综合征患儿的澳大利亚父母进行了六次半结构化访谈，类型1.使用改进的反身主题分析对数据进行了分析。
结果：确定了四个关键主题是0至5岁Usher综合征患儿父母的支持需求的核心。(1)社会需要指父母对各种社会支持来源的需要，(2)InformationalNeedsdescribedthelackofinformationparentsreceivedregardingUshersyndromefromtreatingprofessionals,（3）实际需求包括协助父母管理照顾残疾儿童的日常任务所需的支持，和（4）情感需要代表的情感支持（正式和非正式），父母需要对他们的孩子是一个积极的支持。
结论：研究结果为相关支持团体提供了丰富的信息，政策制定者,个人医疗保健专业人员，利益攸关方教育以及制定和实施最佳做法治疗准则的专业理事机构。
方法：使用目的抽样，对Usher综合征患儿的澳大利亚父母进行了六次半结构化访谈，类型1.使用改进的反身主题分析对数据进行了分析。
结果：确定了四个关键主题是0至5岁Usher综合征患儿父母的支持需求的核心。(1)社会需要指父母对各种社会支持来源的需要，(2)InformationalNeedsdescribedthelackofinformationparentsreceivedregardingUshersyndromefromtreatingprofessionals,（3）实际需求包括协助父母管理照顾残疾儿童的日常任务所需的支持，和（4）情感需要代表的情感支持（正式和非正式），父母需要对他们的孩子是一个积极的支持。
结论：研究结果为相关支持团体提供了丰富的信息，政策制定者,个人医疗保健专业人员，利益攸关方教育以及制定和实施最佳做法治疗准则的专业理事机构。
