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早期治疗的苯丙酮尿症患者中的多动症状伴注意力缺陷障碍

Attention Deficit Disorder with Hyperactivity Symptoms in Early-Treated Phenylketonuria Patients.

作者信息

Beckhauser Mayara Thays, Beghini Mendes Vieira Marcella, Moehlecke Iser Betine, Rozone DE Luca Gisele, Rodrigues Masruha Marcelo, Lin Jaime, Luiz Streck Emilio

机构信息

Department of Neurology- Hospital Santa Isabel - Blumenau - Santa Catarina- Brazil.

Department of Biology, Health and Social Sciences, Universidade do Sul de Santa Catarina (UNISUL) -Tubarão - Santa Catarina - Brazil.

出版信息

Iran J Child Neurol. 2020 Winter;14(1):93-103.

Abstract

SECTION TITLE

Objectives To assess the presence of symptoms consistent with Attention Deficit Disorder with Hyperactivity (ADHD) in all patients with early-treated phenylketonuria (PKU) in the State of Santa Catarina in southern Brazil.

MATERIALS & METHODS: All of the patients diagnosed with PKU by newborn-screening tests, with ages varying from 6 to 18 years and who started treatment before 60 days of life and presented phenylalanine levels consistently below 6 mg/dL throughout treatment, were included. The subjects were invited to complete a questionnaire that collected sociodemographic, gestational and clinical data. ADHD symptoms were assessed using the revision of the Swanson, Nolan and Pelham Questionnaire.

RESULTS

A total of 34 patients were evaluated, who were 53% male and 94% white and had an average age of 12 years, and 15% were born premature. According to the Swanson, Nolan and Pelham Questionnaire, 13 patients (38%) met the diagnostic criteria for ADHD, with 2 patients having the inattentive type, 6 patients having the hyperactive or impulsive type and 1 patient having the oppositional defiant disorder type.

CONCLUSION

Although the patients with PKU were regularly treated from birth, there was a high prevalence of symptoms consistent with ADHD. A pathophysiological interface that involves the dopamine metabolic pathway may exist between the two conditions.

摘要

章节标题

目的 评估巴西南部圣卡塔琳娜州所有早期治疗的苯丙酮尿症(PKU)患者中与多动性注意缺陷障碍(ADHD)相符的症状的存在情况。

材料与方法

纳入所有通过新生儿筛查诊断为PKU的患者,年龄在6至18岁之间,在出生60天之前开始治疗,且在整个治疗过程中苯丙氨酸水平持续低于6mg/dL。邀请受试者完成一份收集社会人口统计学、妊娠和临床数据的问卷。使用Swanson、Nolan和Pelham问卷修订版评估ADHD症状。

结果

共评估了34名患者,其中53%为男性,94%为白人,平均年龄为12岁,15%为早产儿。根据Swanson、Nolan和Pelham问卷,13名患者(38%)符合ADHD诊断标准,其中2名患者为注意力不集中型,6名患者为多动或冲动型,1名患者为对立违抗障碍型。

结论

尽管PKU患者从出生起就接受常规治疗,但与ADHD相符的症状患病率很高。这两种疾病之间可能存在涉及多巴胺代谢途径的病理生理联系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e4ec/6956970/0cea06e946c1/jcn-14-093-g001.jpg

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