Abstract：
Pitt-Hopkins syndrome (PTHS) is a rare genetic disorder resulting from TCF4 gene mutations which is characterized by dysmorphic facial features, psychomotor delay, intellectual disability, breathing anomalies, and seizures. Psychiatric conditions are occasionally seen. We present the case report of a seven-year-old PTHS patient with anxiety, insomnia, and agitation. We discuss the psychopharmacological intervention options for this patient. The present case study reports on a 7-year-old female with PTHS, autism spectrum disorder (ASD), and intellectual disability. She had insomnia, crying spells and agitation complaints. For anxiety symptoms and agitation, risperidone, fluoxetine, and clonazepam treatment were given by the neurologist which caused behavioral disinhibition, paroxysmal agitation and no benefit. After admission to our hospital, aripiprazole and hydroxyzine were prescribed for anxiety and ASD-related irritability. She showed a minimal improvement but hyperventilation attacks were still ongoing. Hydroxyzine was stopped, and quetiapine was given to eliminate sleep disturbance. Her sleep period went up to eleven hours. For the anxiety symptoms, escitalopram was prescribed. She showed improvements in sleep, diminished hyperactivity and decreased frequency of abnormal breathing spells. Also, enhancement of social communication skills like increased eye contact and response to her name was observed. Patients with genetic syndromes may have various psychiatric complaints. Psychopharmacological interventions should be administered carefully for the side effects.
摘要：
皮特-霍普金斯综合征（PTHS）是一种罕见的遗传性疾病，由TCF4基因突变引起，其特征是畸形面部特征，精神运动延迟，智力残疾,呼吸异常,和癫痫发作。偶尔会看到精神病情况。我们提供了一个7岁的PTHS患者焦虑的病例报告，失眠,和激动。我们讨论了该患者的精神药理学干预方案。本案例研究报告了一名患有PTHS的7岁女性，自闭症谱系障碍（ASD），智力残疾。她失眠了,哭泣的咒语和激动的抱怨。对于焦虑症状和激动，利培酮,氟西汀,神经科医生给予氯硝西泮治疗，导致行为抑制，阵发性激动，没有任何好处。入院后,阿立哌唑和羟嗪用于治疗焦虑和ASD相关的易怒。她的改善很小，但换气过度发作仍在进行中。停止了羟嗪，并给予喹硫平以消除睡眠障碍。她的睡眠时间长达11个小时。对于焦虑症状，艾司西酞普兰是处方。她表现出睡眠改善，减少多动症和减少频率的异常呼吸法术。此外，观察到社交沟通技巧的增强，如增加眼神交流和对她的名字的反应。患有遗传综合征的患者可能有各种精神病。对于副作用，应谨慎进行精神药理学干预。
