Angelman综合征伴多动症儿童的兴奋剂不耐受：一系列病例。

IF 1.5 4区医学 Q4 GENETICS & HEREDITY Psychiatric Genetics Pub Date : 2022-04-01 DOI:10.1097/YPG.0000000000000307

Christopher J Keary, Robyn P Thom, Christopher J McDougle

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引用次数: 2

摘要

目的：Angelman综合征是一种由15号染色体上泛素蛋白连接酶E3A基因表达缺失引起的神经遗传性疾病。有问题的行为，包括注意力缺陷/多动症（ADHD）多动症、冲动和注意力不集中的症状，在Angelman综合征中非常普遍。Angelman综合征儿童服用兴奋剂治疗多动症症状的疗效、安全性和耐受性此前尚未报道。方法：我们描述了三名患有Angelman综合征的男孩，他们接受了针对多动症症状的开放标签兴奋剂治疗。结果：刺激药物是高度不可忍受的，由于多动和冲动的显著增加以及注意力分散的恶化，在所有三种情况下，在有限剂量后不得不停止治疗。结论：这项研究的结果表明，在患有Angelman综合征的儿童中，兴奋剂可能无效且耐受性差。

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Stimulant intolerance in children with Angelman syndrome with hyperactivity: a case series.

Objectives: Angelman syndrome is a neurogenetic disorder resulting from the loss of expression of the ubiquitin-protein ligase E3A gene on chromosome 15. Problematic behaviors including attention-deficit/hyperactivity disorder (ADHD) symptoms of hyperactivity, impulsivity and inattention are highly prevalent in Angelman syndrome. The efficacy, safety and tolerability of stimulant medications in children with Angelman syndrome for the treatment of ADHD symptoms have not been previously reported.

Methods: We describe three boys with Angelman syndrome who were treated with open-label stimulant medications for ADHD symptoms.

Results: Stimulant medications were highly intolerable, and treatment had to be discontinued after limited dosing in all three cases due to marked increases in hyperactivity and impulsivity along with worsened distractibility.

Conclusion: The findings of this study suggest that stimulant medications may be ineffective and poorly tolerated in children with Angelman syndrome.

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来源期刊

Psychiatric Genetics 医学-神经科学

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： The journal aims to publish papers which bring together clinical observations, psychological and behavioural abnormalities and genetic data. All papers are fully refereed. Psychiatric Genetics is also a forum for reporting new approaches to genetic research in psychiatry and neurology utilizing novel techniques or methodologies. Psychiatric Genetics publishes original Research Reports dealing with inherited factors involved in psychiatric and neurological disorders. This encompasses gene localization and chromosome markers, changes in neuronal gene expression related to psychiatric disease, linkage genetics analyses, family, twin and adoption studies, and genetically based animal models of neuropsychiatric disease. The journal covers areas such as molecular neurobiology and molecular genetics relevant to mental illness. Reviews of the literature and Commentaries in areas of current interest will be considered for publication. Reviews and Commentaries in areas outside psychiatric genetics, but of interest and importance to Psychiatric Genetics, will also be considered. Psychiatric Genetics also publishes Book Reviews, Brief Reports and Conference Reports.