Lessmann Julia, Sarimski Klaus
Pädagogische Hochschule Heidelberg, Heidelberg.
Prax Kinderpsychol Kinderpsychiatr. 2013;62(6):420-34. doi: 10.13109/prkk.2013.62.6.420.
Family X syndrome is the second most common inherited form of mental retardation. The suspected diagnosis is made on a characteristic behavioral phenotype and confirmed by genetic analysis. In a retrospective survey, 57 parents report on the process of diagnosis. The mean age of diagnosed children was 4;8 years. A majority of two thirds of parents stated that knowledge of the cause of the disorder was important to them. At the same time many parents felt the process was insensitive and missed specific information on developmental perspectives for their children. Most say they benefited from the national parent self-help group as an important resource of support. Conclusions for professional support for parents are discussed.
X家族综合征是第二常见的遗传性智力迟钝形式。疑似诊断基于特征性的行为表型，并通过基因分析得以确诊。在一项回顾性调查中，57位家长报告了诊断过程。被诊断儿童的平均年龄为4岁8个月。三分之二的家长表示，了解疾病的病因对他们很重要。与此同时，许多家长觉得诊断过程缺乏人情味，遗漏了有关孩子发育方面的具体信息。大多数家长称，他们从全国性的家长自助组织中受益，该组织是重要的支持资源。文中讨论了为家长提供专业支持的结论。
