Salcedo-Arellano María J, Lozano Reymundo, Tassone Flora, Hagerman Randi J, Saldarriaga Wilmar
School of Medicine, Universidad del Valle, Cali, Colombia; Research Group in Congenital & Perinatal Malformations, Dysmorphology and Clinical Genetics (MACOS), Universidad del Valle, Cali, Colombia; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute, University of California, Davis Medical Center, Sacramento, CA, USA.
Seaver Autism Center. Departments of Genomic Sciences, Psychiatry and Pediatrics. Icahn School of Medicine, Mount Sinai Hospital, New York, NY, USA.
Intractable Rare Dis Res. 2016 Aug;5(3):207-13. doi: 10.5582/irdr.2016.01046.
Alcohol use disorders (AUDs) have been reported in a limited number of individuals with cognitive impairment but rarely in those with fragile X syndrome (FXS). However, in Colombia, culturally, alcohol consumption is very common. Here, we report eight cases of patients with FXS who have frequent alcohol consumption in Ricaurte, Colombia. Some of these patients have also used tobacco and illegal substances, including cocaine, which use has not been previously reported in those with FXS. Alcohol and substance use dependence is associated with exacerbation of their behavioral problems, such as increased impulsivity and aggression, as well as of medical problems such as an increased frequency of seizures.
酒精使用障碍(AUDs)在少数认知障碍个体中已有报道,但在脆性X综合征(FXS)患者中很少见。然而,在哥伦比亚,从文化角度来看,饮酒非常普遍。在此,我们报告了8例来自哥伦比亚里考特的FXS患者经常饮酒的病例。其中一些患者还使用烟草和非法物质,包括可卡因,而此前尚未有关于FXS患者使用这些物质的报道。酒精和物质使用依赖与他们行为问题的加重有关,如冲动性和攻击性增加,也与医疗问题有关,如癫痫发作频率增加。