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Appropriateness of array-CGH in the ADHD clinics: A comparative study.
Genes, Brain and Behavior ( IF 2.5 ) Pub Date : 2020-03-06 , DOI: 10.1111/gbb.12651 Marco Baccarin 1 , Chiara Picinelli 1 , Pasquale Tomaiuolo 1 , Paola Castronovo 1 , Anna Costa 2 , Magda Verdecchia 2 , Chiara Cannizzaro 2 , Giusi Barbieri 2 , Roberto Sacco 2 , Antonio M Persico 3 , Carla Lintas 2
Genes, Brain and Behavior ( IF 2.5 ) Pub Date : 2020-03-06 , DOI: 10.1111/gbb.12651 Marco Baccarin 1 , Chiara Picinelli 1 , Pasquale Tomaiuolo 1 , Paola Castronovo 1 , Anna Costa 2 , Magda Verdecchia 2 , Chiara Cannizzaro 2 , Giusi Barbieri 2 , Roberto Sacco 2 , Antonio M Persico 3 , Carla Lintas 2
Affiliation
Attention deficit hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorder with a worldwide prevalence of about 5%. The disorder is characterized by inattentive, hyperactive and impulsive behavior and is often comorbid with other neuropsychiatric conditions. Array comparative genomic hybridization (array‐CGH) testing has been proved to be useful to detect chromosomal aberrations in several neuropsychiatric conditions including autism spectrum disorders (ASD) and intellectual disability (ID). The usefulness of array‐CGH in the ADHD clinics is still debated and no conclusive evidence has been reached to date. We performed array‐CGH in 98 children and adolescents divided in two similarly sized groups according to the clinical diagnosis: (a) one group diagnosed with ADHD as primary diagnosis; (b) the other group in which ADHD was co‐morbid with ASD and/or ID. We detected pathogenetic and likely pathogenetic copy number variants (CNVs) in 12% subjects in which ADHD was co‐morbid with autism and/or intellectual disability and in 8.5% subjects diagnosed with ADHD as primary diagnosis. Detection of CNVs of unknown clinical significance was similar in the two groups being 27% and 32%, respectively. Benign and likely benign CNVs accounted for 61% and 59.5% in the first and second group, respectively. Differences in the diagnostic yield were not statistically significant between the two groups (P > .05). Our data strongly suggest that array‐CGH (a) is a valuable diagnostic tool to detect clinically significant CNVs in individuals with ADHD even in the absence of comorbidity with ASD and/or ID and (b) should be implemented routinely in the ADHD clinics.
中文翻译:
多动症诊所中阵列-CGH的适当性:一项比较研究。
注意缺陷多动障碍(ADHD)是最常见的神经发育障碍之一,全世界的患病率约为5%。这种疾病的特征是注意力不集中,活动过度和冲动行为,通常与其他神经精神疾病并存。阵列比较基因组杂交(array-CGH)测试已被证明可用于检测多种神经精神疾病(包括自闭症谱系障碍(ASD)和智力障碍(ID))中的染色体畸变。阵列-CGH在ADHD诊所中的用途仍在争论中,迄今为止尚无确凿证据。根据临床诊断,我们对98名儿童和青少年进行了array-CGH,将其分为两个相似大小的组:(a)一组被诊断为ADHD的主要诊断;(b)ADHD与ASD和/或ID并存的另一组。我们在12%患有ADHD与自闭症和/或智力残疾并存的受试者以及8.5%被诊断为ADHD的受试者中检测到了致病性和可能的致病性拷贝数变异(CNV)。两组的临床意义未知的CNV检测相似,分别为27%和32%。在第一组和第二组中,良性和可能良性的CNV分别占61%和59.5%。两组之间的诊断率差异无统计学意义(5%被诊断为ADHD的受试者为主要诊断。两组的临床意义未知的CNV检测相似,分别为27%和32%。在第一组和第二组中,良性和可能良性的CNV分别占61%和59.5%。两组之间的诊断率差异无统计学意义(5%被诊断为ADHD的受试者为主要诊断。两组的临床意义未知的CNV检测相似,分别为27%和32%。在第一和第二组中,良性和可能良性的CNV分别占61%和59.5%。两组之间的诊断率差异无统计学意义(P > .05)。我们的数据强烈表明,阵列CGH(a)是检测ADHD患者临床上重要的CNV的有价值的诊断工具,即使在没有ASD和/或ID合并症的情况下也是如此(b)应在ADHD诊所常规实施。
更新日期:2020-03-06
中文翻译:
多动症诊所中阵列-CGH的适当性:一项比较研究。
注意缺陷多动障碍(ADHD)是最常见的神经发育障碍之一,全世界的患病率约为5%。这种疾病的特征是注意力不集中,活动过度和冲动行为,通常与其他神经精神疾病并存。阵列比较基因组杂交(array-CGH)测试已被证明可用于检测多种神经精神疾病(包括自闭症谱系障碍(ASD)和智力障碍(ID))中的染色体畸变。阵列-CGH在ADHD诊所中的用途仍在争论中,迄今为止尚无确凿证据。根据临床诊断,我们对98名儿童和青少年进行了array-CGH,将其分为两个相似大小的组:(a)一组被诊断为ADHD的主要诊断;(b)ADHD与ASD和/或ID并存的另一组。我们在12%患有ADHD与自闭症和/或智力残疾并存的受试者以及8.5%被诊断为ADHD的受试者中检测到了致病性和可能的致病性拷贝数变异(CNV)。两组的临床意义未知的CNV检测相似,分别为27%和32%。在第一组和第二组中,良性和可能良性的CNV分别占61%和59.5%。两组之间的诊断率差异无统计学意义(5%被诊断为ADHD的受试者为主要诊断。两组的临床意义未知的CNV检测相似,分别为27%和32%。在第一组和第二组中,良性和可能良性的CNV分别占61%和59.5%。两组之间的诊断率差异无统计学意义(5%被诊断为ADHD的受试者为主要诊断。两组的临床意义未知的CNV检测相似,分别为27%和32%。在第一和第二组中,良性和可能良性的CNV分别占61%和59.5%。两组之间的诊断率差异无统计学意义(P > .05)。我们的数据强烈表明,阵列CGH(a)是检测ADHD患者临床上重要的CNV的有价值的诊断工具,即使在没有ASD和/或ID合并症的情况下也是如此(b)应在ADHD诊所常规实施。