Delayed recognition of autism spectrum disorder and attention-deficit/hyperactivity disorder in a girl with ornithine transcarbamylase deficiency: A case report

Author:

Kadono Shin1,Miyawaki Dai1ORCID,Goto Ayako1,Hirai Kaoru2,Sakamoto Shoko1,Hama Hiroki1,Nishiura Sayaka1,Hamazaki Takashi2,Inoue Koki1

Affiliation:

1. Department of Neuropsychiatry, Osaka Metropolitan University (Osaka City University) Graduate School of Medicine, Abeno-ku, Osaka, Japan

2. Department of Pediatrics, Osaka Metropolitan University (Osaka City University) Graduate School of Medicine, Abeno-ku, Osaka, Japan.

Abstract

Rationale: Ornithine transcarbamylase (OTC) deficiency, a urea cycle disorder, is a rare congenital metabolic error that leads to hyperammonemia. Psychiatric symptoms of hyperammonemia are nonspecific and can cause autism spectrum disorder (ASD)-like symptoms and attention-deficit/hyperactivity disorder (ADHD)-like symptoms. Some studies report that OTC deficiency is often initially diagnosed as ASD or ADHD. However, there are no reports of OTC deficiency comorbid with ASD and ADHD. Patient concerns: The patient is 17-year-old girl diagnosed with OTC deficiency at 3 years of age. She had behavioral problems since childhood, including depressed mood, irritability, and impulsive behavior; however, they were considered OTC-mediated nonspecific psychiatric symptoms. Therefore, the patient had not been appropriately assessed for ASD and ADHD. She presented with depressed mood and self-harm at 17 years of age. Diagnoses: We diagnosed her with ASD and ADHD based on her medical history and semistructured interviews. Interventions: We focused her ASD and ADHD traits and discussed strategies with her for better adaptive living. Outcomes: Our interventions resulted in her better social adjustment. Lessons: Physicians should consider the possibility of comorbid ASD and ADHD in individuals with OTC, facilitating appropriate and intervention for better outcomes.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Urea cycle disorders in critically Ill adults;Current Opinion in Clinical Nutrition & Metabolic Care;2023-11-07

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3