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挑战性病例:自闭症谱系障碍儿童新发幻觉和发育倒退。

Challenging Case: New-Onset Hallucinations and Developmental Regression in a Child with Autism Spectrum Disorder.

机构信息

Division of Developmental Medicine, Boston Children's Hospital, Harvard Medical School, Brookline, MA.

Department of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Harvard Medical School, Boston, MA.

出版信息

J Dev Behav Pediatr. 2024;45(3):e267-e270. doi: 10.1097/DBP.0000000000001266. Epub 2024 Apr 11.

Abstract

Nick is a 5-year-old boy who began displaying self-stimulating behaviors and decreased social interactions shortly before turning 3 years. At the age of 3.5 years, he was diagnosed with autism spectrum disorder by a local developmental-behavioral pediatrician. His parents recall that the physician described Nick to be "high functioning" and encouraged them to expect that he would attend college and live independently as an adult. Upon receiving the diagnosis, intervention was initiated using an applied behavioral analysis (ABA) approach. With this intervention, he demonstrated initial gains in the use of complex language and improved social interactions.Concerns regarding suspected psychosis emerged just before starting kindergarten when Nick began experiencing ego-dystonic visual and auditory hallucinations. Initially, Nick verbally responded to the hallucinations and vividly described what he was experiencing. Shortly after the onset of these hallucinations, Nick experienced a significant decrease in the frequency and complexity of his expressive language and became more withdrawn. Over time, his hallucinations intensified, and his parents became increasingly fearful for his safety. Various antipsychotic and mood-stabilizing medications, steroids, and immunotherapy have been trialed with limited improvement of his symptoms.An extensive medical evaluation yielded the following:1. Magnetic resonance imaging of the brain: dilated perivascular spaces.2. Urine organic acids: ketosis and increased lactic acid.3. Antinuclear antibody: minimally positive.4. Vitamin B12: elevated.All other studies, including lumbar puncture, electroencephalogram (awake and asleep), genetic studies (chromosomal microarray, fragile X testing, and whole exome sequencing), metabolic studies, inflammatory markers, and thyroid panel, were negative/normal.Nick is enrolled in a special education classroom within a school that utilizes an ABA-based approach for all students. As part of his educational programming, he receives 25 hours of ABA in a 1:1 setting, 2 hours of speech therapy, 3 hours of occupational therapy, 1 hour of physical therapy, and 30 minutes of music therapy weekly. Current concerns include significant head-banging and thrashing before falling asleep, hyperactivity, unsafe behaviors (e.g., banging on windows, climbing high to reach desired items), aggression toward caregivers, limited ability to complete self-care tasks (e.g., personal hygiene, toileting), significant decline in expressive language, and continued response to internal stimuli.Nick's parents now present to a multidisciplinary center seeking guidance regarding additional therapies/interventions to assist in management of his current developmental and behavioral challenges as well as information regarding his expected developmental trajectory as he reaches adulthood.

摘要

尼克是一个 5 岁的男孩,他在 3 岁前不久开始表现出自残行为和社交互动减少。在 3.5 岁时,他被当地的发育行为儿科医生诊断为自闭症谱系障碍。他的父母回忆说,医生形容尼克“高功能”,并鼓励他们期望他能上大学,并在成年后独立生活。在收到诊断后,采用应用行为分析(ABA)方法开始进行干预。通过这种干预,他在复杂语言的使用和社交互动方面取得了初步的进步。

在尼克开始出现自我歪曲的视觉和听觉幻觉之前,他即将上幼儿园,此时出现了对疑似精神病的担忧。最初,尼克对幻觉做出了言语反应,并生动地描述了他的经历。这些幻觉出现后不久,尼克的表达语言的频率和复杂性显著下降,变得更加孤僻。随着时间的推移,他的幻觉加剧,他的父母越来越担心他的安全。各种抗精神病药和情绪稳定剂、类固醇和免疫疗法都进行了尝试,但他的症状改善有限。

广泛的医学评估结果如下

  1. 脑部磁共振成像:血管周围空间扩张。

  2. 尿液有机酸:酮症和乳酸增加。

  3. 抗核抗体:轻度阳性。

  4. 维生素 B12:升高。

所有其他研究,包括腰椎穿刺、脑电图(清醒和睡眠)、基因研究(染色体微阵列、脆性 X 测试和全外显子测序)、代谢研究、炎症标志物和甲状腺小组,均为阴性/正常。

尼克就读于一所学校的特殊教育教室,该校为所有学生采用基于应用行为分析的方法。作为他教育计划的一部分,他每周接受 25 小时的一对一应用行为分析、2 小时的言语治疗、3 小时的职业治疗、1 小时的物理治疗和 30 分钟的音乐治疗。目前的问题包括入睡前剧烈摇头和猛撞、多动、不安全行为(如敲打窗户、爬上高处够取想要的物品)、对照顾者的攻击行为、完成自我护理任务(如个人卫生、上厕所)的能力有限、表达语言明显下降以及持续对内源性刺激做出反应。

尼克的父母现在来到一个多学科中心,寻求关于额外治疗/干预的指导,以帮助管理他当前的发育和行为挑战,并了解他成年后预期的发育轨迹。

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