Department of Medical and Translational Science, Federico II University Hospital, Via Sergio Pansini, 5, 80131, Naples, Italy.
Ital J Pediatr. 2019 Jul 26;45(1):92. doi: 10.1186/s13052-019-0672-4.
Aim of the study is to intercept specific characteristics and psychiatric comorbidity in Down Syndrome (DS). The study describes the distribution and the age of specific aspects of behavioral phenotype in a sample of subjects with DS.
Psychopathological risk has been evaluated in a 97 DS patient cohort, aged 1 to 18 years, during regular follow-up neuropsychiatric visit and through administration of Child Behavior Checklist (CBCL); Childhood Autism Rating Scale (CARS-T) was assessed to verify the presence of autistic behaviors.
The results show the presence of specific psychopathological risk factors in 90% of the sample. 7% of sample presents autistic features. The risk of psychopathology is independent of the degree of intellectual disability.
The high frequency of psychopathological risk factors indicates the need for accurate monitoring to intercept specific characteristics, such as in the case of comorbidity for autism. The search for specific psychopathological factors is a little explored aspect to date, as evidenced by the literature. Despite the studies available to date highlight the presence of psychopathological vulnerability in DS, so far there are only few reports that explore this issue systematically.
本研究旨在发现唐氏综合征（Down syndrome，DS）患者的特定特征和精神共病。本研究描述了在一组 DS 患者样本中，行为表型的特定方面的分布和年龄。
在定期的神经精神随访和儿童行为检查表（Child Behavior Checklist，CBCL）评估中，对 97 名 1 至 18 岁的 DS 患者队列进行了精神病理学风险评估；通过儿童自闭症评定量表修订版（Childhood Autism Rating Scale-T修订版，CARS-T）评估来验证自闭症行为的存在。
结果显示，样本中有 90%存在特定的精神病理风险因素。7%的样本存在自闭症特征。精神病理学风险与智力障碍的程度无关。
高频率的精神病理风险因素表明需要进行准确的监测，以发现特定的特征，如自闭症共病。迄今为止，针对特定精神病理因素的研究还很少，这一点可以从文献中得到证实。尽管目前已有的研究都强调了 DS 患者存在精神病理易感性，但迄今为止，只有少数报告系统地探讨了这个问题。
