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首页> 外文期刊>BMC Psychiatry >Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports
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Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: case reports

机译：锂作为两名孤独症谱系障碍SHANK3患者的消退和紧张状态的抢救疗法：病例报告

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Background Phelan-Mc Dermid syndrome is a contiguous disorder resulting from 22q13.3 deletion implicating the SHANK3 gene. The typical phenotype includes neonatal hypotonia, moderate to severe intellectual disability, absent or delayed speech, minor dysmorphic features and autism or autistic-like behaviour. Recently, point mutations or micro-deletions of the SHANK3 gene have been identified, accompanied by a phenotype different from the initial clinically description in Phelan McDermid syndrome. Case presentation Here we present two case studies with similar psychiatric and genetic diagnosis as well as similar clinical history and evolution. The two patients were diagnosed with autism spectrum disorders in childhood and presented regression with catatonia features and behavioural disorders after a stressful event during adolescence. Interestingly, both patients presented mutation/microdeletion of the SHANK3 gene, inducing a premature stop codon in exon 21. Different pharmacological treatments (antipsychotics, benzodiazepines, mood stabilizer drugs, antidepressants, and methylphenidate) failed to improve clinical symptoms and lead to multiple adverse events. In contrast, lithium therapy reversed clinical regression, stabilized behavioural symptoms and allowed patients to recover their pre-catatonia level of functioning, without significant side effects. Conclusion These cases support the hypothesis of a specific SHANK3 phenotype. This phenotype might be linked to catatonia-like deterioration for which lithium use could be an efficient treatment. Therefore, these cases provide an important contribution to the field of autism research, clinical genetics and possible pharmacological answers.
机译：背景Phelan-Mc Dermid综合征是一种由22q13.3缺失导致的连续性疾病，涉及SHANK3基因。典型的表型包括新生儿肌张力低下，中度至重度智力障碍，语言缺失或延迟，轻微的畸形特征以及自闭症或自闭症行为。最近，已经鉴定出SHANK3基因的点突变或微缺失，并伴有与Phelan McDermid综合症的最初临床描述不同的表型。案例介绍在这里，我们介绍了两个案例研究，它们具有相似的精神病学和遗传学诊断以及相似的临床病史和演变。两名患者在儿童期被诊断出患有自闭症谱系障碍，并在青春期出现压力事件后表现出卡塔尼亚症状和行为障碍的消退。有趣的是，两名患者均出现了SHANK3基因的突变/微缺失，在第21外显子上诱导了过早的终止密码子。不同的药物治疗（抗精神病药，苯二氮卓类，情绪稳定剂，抗抑郁药和哌醋甲酯）未能改善临床症状并导致多种不良事件。相反，锂疗法可逆转临床消退，稳定行为症状，并使患者恢复其前共济失调的功能水平，而无明显副作用。结论这些案例支持特定的SHANK3表型的假设。这种表型可能与类似卡塔顿的退化有关，对此锂的使用可能是一种有效的治疗方法。因此，这些病例为自闭症研究，临床遗传学和可能的药理学答案提供了重要的贡献。

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