Laboratory of Medical Genetics, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
Unit of Psychology, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
Genes (Basel). 2022 Oct 23;13(11):1926. doi: 10.3390/genes13111926.
The authors report on a boy with dyslexia and attention deficit hyperactivity disorder. A protocol of standardized tests assessed the neuroadaptive profile, allowing deep neuropsychiatric phenotyping. In addition to the diagnosis of dyslexia and attention deficit hyperactivity disorder, such methodology led to endeavor cognitive, adaptive, and academic skills. Chromosomal microarray analysis detected a 452.4 Kb de novo heterozygous microdeletion in chromosomal region 1p34.3, including seven OMIM genes. The authors took a thorough evaluation of the association to the phenotype of the deleted genes. Further reports could strengthen such association.
作者报告了一例患有诵读困难和注意缺陷多动障碍的男孩。标准化测试方案评估了神经适应性特征，从而能够深入进行神经精神表型分析。除了诵读困难和注意缺陷多动障碍的诊断外，这种方法还可用于评估认知、适应和学术技能。染色体微阵列分析检测到染色体 1p34.3 区域存在一个 452.4 Kb 的新生杂合性微缺失，包含 7 个 OMIM 基因。作者对与缺失基因表型的关联进行了全面评估。进一步的报告可能会加强这种关联。
