Akyol Ardıç Ülkü, Ercan Eyüp Sabri, Aygüneş Duygu, Yüce Deniz, Durak Sibel, Kosova Buket
Turk Psikiyatri Derg. 2017 Summer;28(2):89-94.
Methylphenidate is the first-choice medication for the Pervasive Developmental Disorders (PDDs), and comorbid Attention Deficit Hyperactivity Disorder (ADHD). But this approach generally results with poor outcomes, and increased adverse effects. It is aimed to investigate the comparison of cases who diagnosed with PDDs and Mild Mental Retardation (MR) and cases with pure ADHD in terms of the clinical response to MPH. Also we aimed to investigate the relations between CES-1 polymorphism gene and the clinical response to MPH.
For clarifying this we searched for three polymorphisms (Arg199/His, Ser75/Asn, and Ile49/Val) in carboxylesterase-1 gene (CES-1) in the saliva of patients diagnosed with PDD+ADHD. Also, we assessed the clinical response to MPH by dimensional approach using the Attention Deficit Hyperactivity Disorder Rating Scale IV and Clinical Global Impression-Improvement scale.
PDD+ADHD groups had significantly higher Arg199/His polymorphism, and clinically responded poorer with symptoms sometimes even worsening to the MPH treatment compared with "pure" ADHD and ADHD+MR groups.
This is the first study that an association between Arg199/His polymorphism in CES1 and altered treatment response to MPH in patients with PDD that presents with symptoms of ADHD.
哌醋甲酯是广泛性发育障碍（PDD）及共病注意力缺陷多动障碍（ADHD）的首选药物。但这种治疗方法通常效果不佳，且不良反应增加。本研究旨在比较诊断为PDD和轻度智力障碍（MR）的患者与单纯ADHD患者对哌醋甲酯的临床反应。此外，我们还旨在研究羧酸酯酶-1（CES-1）基因多态性与对哌醋甲酯临床反应之间的关系。
为阐明这一问题，我们在诊断为PDD+ADHD的患者唾液中寻找羧酸酯酶-1基因（CES-1）的三种多态性（Arg199/His、Ser75/Asn和Ile49/Val）。此外，我们使用注意力缺陷多动障碍评定量表IV和临床总体印象改善量表，通过维度方法评估对哌醋甲酯的临床反应。
与“单纯”ADHD组和ADHD+MR组相比，PDD+ADHD组的Arg199/His多态性显著更高，对哌醋甲酯治疗的临床反应较差，有时症状甚至会恶化。
这是第一项关于CES1基因中Arg199/His多态性与伴有ADHD症状的PDD患者对哌醋甲酯治疗反应改变之间存在关联的研究。
