Phelps Randall, Tsai Anne, Hagen Arlene, Pinter Joseph, Smith Raegan, Stein Martin T
*Department of Pediatrics, Child Development and Rehabilitation Center, Institute on Development and Disability, Oregon Health and Science University, Portland, OR; †Department of Pediatrics, Clinical Genetics & Metabolism, University of Colorado, Denver, CO; ‡Division of Academic Pediatrics, Child Development and Community Health, Department of Pediatrics, University of California San Diego, Rady Children's Hospital.
J Dev Behav Pediatr. 2016 May;37(4):343-5. doi: 10.1097/DBP.0000000000000302.
Isela is an 11-year-old Mexican-American girl with mild intellectual disability. During a vacation with her family, she went swimming with dolphins. A few days later, Isela awoke at night with laughing spells; during the day, she was pacing, aggressive, and had a decline in self-care and communication skills. Her parents attributed the symptoms to the dolphins. She was evaluated by a pediatric neurologist. The sleep-deprived electroencephalogram, brain magnetic resonance imaging, lumbar puncture, and thyroid function tests were normal. A genomic microarray was sent. The neurologist initiated empirical therapy for seizures with lamotrigine, which caused a rash. It was discontinued. She was then treated with oxcarbazepine followed by topiramate for several months without any change in symptoms. Comparative genomic hybridization revealed a small deletion at 14q13.1, which includes the NPAS3 gene. Psychiatry was consulted after several months of persistent symptoms. Isela seemed to be laughing in response to internal stimuli. Owing to the decline in communication and her apparent preoccupation with visual and auditory internal stimuli, Isela could not be interviewed adequately to confirm that she was experiencing hallucinations, but her laughter seemed to be in response to hallucinations. Isela was diagnosed with disorganized schizophrenia with psychosis. Risperidone was prescribed. A psychology evaluation was completed a few months later. Parents noted significant improvement after starting risperidone with reduced inappropriate laughing spells, reduced pacing, as well as improved eating, sleeping, communication, and self-care. Cognitive assessment with the Wechsler Abbreviated Scale of Intelligence-II indicated the following: verbal estimated intelligence quotient (IQ) = 70, perceptual estimated IQ = 71, and full-scale estimated IQ = 68. There was no cognitive decline compared with testing at school 4 years previously. Although psychotic symptoms were significantly improved on antipsychotic medication and function appeared to have been restored to her previous level, her parents continued to perceive a significant decline of functioning, and they continued to attribute the psychosis to swimming with the dolphins.
伊塞拉是一名11岁的患有轻度智力障碍的墨西哥裔美国女孩。在和家人度假期间,她与海豚一起游泳。几天后,伊塞拉夜间醒来时出现阵阵笑声;白天,她踱步、有攻击性,自我照料和沟通能力下降。她的父母将这些症状归因于海豚。她接受了儿科神经科医生的评估。睡眠剥夺脑电图、脑部磁共振成像、腰椎穿刺和甲状腺功能测试均正常。进行了基因组微阵列检测。神经科医生开始用拉莫三嗪对癫痫进行经验性治疗,但引发了皮疹,于是停药。随后她接受了奥卡西平治疗,之后又用托吡酯治疗了几个月,症状没有任何变化。比较基因组杂交显示14q13.1存在一个小缺失,其中包括NPAS3基因。持续出现症状几个月后咨询了精神科。伊塞拉似乎是对内部刺激做出发笑反应。由于沟通能力下降以及她明显专注于视觉和听觉内部刺激,无法充分询问伊塞拉以确认她是否正在经历幻觉,但她的笑声似乎是对幻觉的反应。伊塞拉被诊断为伴有精神病性症状的紊乱型精神分裂症。开了利培酮。几个月后完成了心理评估。父母指出,开始使用利培酮后有显著改善,不当发笑发作减少、踱步减少,饮食、睡眠、沟通和自我照料也有所改善。使用韦氏儿童智力量表第二版进行的认知评估结果如下:言语估计智商(IQ)=70,知觉估计智商=71,全量表估计智商=68。与4年前在学校进行的测试相比,没有认知能力下降。尽管抗精神病药物治疗后精神病性症状有显著改善,功能似乎已恢复到之前的水平,但她的父母仍然认为功能有显著下降,并且他们继续将精神病归因于与海豚一起游泳。