Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process
Wolf-Hirschhorn syndrome. A series of 27 patients: their epidemiological and clinical characteristics. The current situation of the patients and the opinions of their caregivers regarding the diagnostic process
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DOI：
10.33588/rn.5702.2013175
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发表时间：
2013-07-16
影响因子：
1.2
通讯作者：
Garcia-Ron, Adrian
中科院分区：
文献类型：
--
作者：
Blanco-Lago, Raquel;Malaga, Ignacio;Garcia-Ron, Adrian
导言。Wolf-Hirschhorn综合征(WHS)是由4号染色体短臂末端缺失引起的一种染色体病理，以特殊表型、生长迟缓、精神运动发育迟缓和癫痫为特征。描述一系列WHS儿童的特征，包括达到诊断的平均时间，并评估家庭对诊断过程的意见。研究人员联系了国家WHS协会，并通过他们与29个受这种疾病影响的家庭建立了联系。收集了有关儿童临床特征和对诊断过程的意见的信息，并要求这些家庭提交医疗报告，证实他们所提供的信息。一旦创建了关于患者的信息数据库，就将其提交给统计分析。获得了27个家庭的信息。患者目前的平均年龄为6.94±6.37岁。平均确诊年龄为14.34个月。92.6%的孕妇存在宫内发育迟缓。92.6%的患者存在癫痫，其中44.4%的患者接受单一治疗。所有患者均存在精神运动/认知发育迟缓。其中33%的人可以在没有帮助的情况下行走。家长对医生提供的治疗的平均得分为7.25+/-2.17，对所提供的信息的评分为6.29+/-2.11。还没有找到关于WHS平均诊断年龄的参考文献。在我们的样本中，在这方面有重要的变化，可能受到病例的表型和医生自己的经验的影响。临床特征与预期相似。估计的依赖程度很高，相比之下，家庭收到的信息质量很低。
Introduction. Wolf-Hirschhorn syndrome (WHS) is a chromosome pathology produced by a deletion in the distal region of the short arm of chromosome 4. It is characterised by the presence of a peculiar phenotype, delayed growth, delayed psychomotor development and epilepsy.Aims. To describe the characteristics of a series of children with WHS, including the mean amount of time spent on reaching the diagnosis, and to evaluate the opinion of the families about the diagnostic process.Patients and methods. The researchers contacted the National WHS Association and, through them, contact was established with 29 families affected by the condition. Information was collected about the clinical features of the child and the opinion about the diagnostic process, and the families were asked to present medical reports that confirmed the information they had given. Once a database of information about the patients had been created, it was submitted to a statistical analysis.Results. Information was obtained on 27 families. The mean age of the patients is currently 6.94 +/- 6.37 years. The mean age of diagnosis was 14.34 months. Delayed intrauterine growth exists in 92.6% of the pregnancies. Epilepsy is present in 92.6% of patients, 44.4% of them in monotherapy. Delayed psychomotor/cognitive development exists in all the patients. Thirty-three per cent of them can walk unaided. The parents rated the treatment offered by physicians with a mean score of 7.25 +/- 2.17 and the information they were provided with was given a score of 6.29 +/- 2.11.Conclusions. No references have been found regarding the mean age of diagnosis for WHS. In our sample there are important variations in this respect, possibly influenced by the phenotype of the case and the doctor's own experience. The clinical characteristics are similar to the ones that were expected. The estimated degree of dependence is high and, in contrast, the quality of the information received by the family is low.