Can the behavioural phenotype of Fragile X syndrome be attributed to mental retardation and to attention deficit hyperactivity disorder?
Can the behavioural phenotype of Fragile X syndrome be attributed to mental retardation and to attention deficit hyperactivity disorder?
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DOI：
10.33588/rn.3801.2003403
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发表时间：
2004-01-01
影响因子：
1.2
通讯作者：
Brun-Gasca, C
中科院分区：
文献类型：
--
作者：
Artigas-Pallarés, J;Brun-Gasca, C
导论.脆性X综合征（FXS）表现为畸形性红斑、全身表现、神经系统症状和认知行为表现。精神发育迟滞（MR）和注意力缺陷多动障碍（ADHD）几乎总是作为最后一种情况的例子出现，但大多数患者也表现出一系列相当常见的行为特征。在FXS中看到的最典型的行为类型包括：语言问题，缺乏注意力，多动，焦虑，害羞，行为问题，刻板的拍手，目光厌恶，固执和侵略性。目标。这项工作的目的是确定该综合征的哪些行为方面与遗传特异性有关，因此不由MR和ADHD决定。患者和方法。比较了三组患者：30名被诊断为患有FXS的儿童，30名由各种病因引起的MR儿童和323名被诊断为患有ADHD的儿童。结果结果发现，FXS和MR组的智商和年龄之间没有显着差异。为了确定三组患者的行为特征，患者的父母回答Achenbach的CBCL/4-18调查。结论.获得的结果表明，某些类型的行为，是非常典型的FXS的代表显着更频繁地在FXS组比MR和ADHD患者组。这种行为包括：胆怯、依恋成年人、害羞、一遍又一遍地重复某些动作、发音和言语问题、害怕动物、环境或地方，以及对整洁和清洁的关注。这些发现支持了FXS的行为表型与遗传疾病有关的观点，因此不是MR或ADHD的结果。
Introduction. Fragile X syndrome (FXS) reveals itself as dysmorphic stigmata, systemic manifestations, neurological symptoms and cognitive-behavioural manifestations. Mental retardation (MR) and attention deficit hyperactivity disorder (ADHD) nearly always appear as examples of this last case, but most patients also present a series of fairly common behavioural characteristics. The most characteristic types of conduct seen in FXS include: language problems, lack of attention, hyperactivity, anxiety, shyness, behavioural problems, stereotypical hand flapping, gaze aversion, obstinacy and aggressiveness. Aims. The purpose of this work is to determine which behavioural aspects of the syndrome are linked to the genetic specificity and are not, therefore, determined by MR and ADHD. Patients and methods. Three groups of patients were compared: 30 children diagnosed as suffering from FXS, 30 children with MR caused by diverse aetiologies and 323 children diagnosed as suffering from ADHD. Results. It was found that there were no significant differences between the IQ and the age of the FXS and MR groups. To determine the behavioural characteristics of the three groups the parents of the patients answered Achenbach's CBCL/4-18 survey. Conclusions. The results obtained show that certain types of conduct that are very typical of FXS are represented significantly more frequently in the FXS group than in the groups of patients with MR and ADHD. This behaviour includes: timidity, attachment to adults, shyness, repetition of certain actions over and over again, pronunciation and speech problems, fear of animals, situations or places, and concern for tidiness and cleanliness. These findings lend support to the idea that the behavioural phenotype of FXS is linked to the genetic disorder and is not, therefore, a consequence of MR or ADHD.