Abedi Afrah S, Asad Nafisa, Patel Hejal, Abedi Maleeha S, Ali Ruhina
Psychiatry, Lake Erie College of Osteopathic Medicine, Bradenton, USA.
Internal Medicine, Lake Erie College of Osteopathic Medicine, Bradenton, USA.
Cureus. 2025 Jan 20;17(1):e77745. doi: 10.7759/cureus.77745. eCollection 2025 Jan.
Neurofibromatosis type 1 (NF1) is a complex genetic disorder often associated with neurocutaneous manifestations and cognitive impairments. This case report examines a nine-year-old child with NF1 who presented with multiple psychiatric comorbidities, including autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and developmental disorder of scholastic skills (DDSS). The child exhibited significant impairments in daily functioning and academic performance. Comprehensive assessments identified deficits in social communication and repetitive behaviors consistent with ASD, as well as symptoms of inattention and hyperactivity indicative of ADHD. Furthermore, the child struggled with reading, writing, and mathematics, consistent with DDSS. This report highlights the importance of diagnostic evaluations in children with NF1 to identify and address co-occurring psychiatric conditions. The association between NF1 and these comorbidities suggests a similar neurobiological basis, potentially involving disrupted neural pathways and altered brain development. Early intervention strategies, including behavioral therapies, educational support, and appropriate pharmacological treatments, were implemented to address the child's needs. This case emphasizes the importance of personalized approaches to improve developmental, cognitive, and psychological outcomes for children with NF1 and multiple psychiatric comorbidities. Further research is necessary to better understand the mechanisms driving these associations and to guide treatment strategies.
1型神经纤维瘤病(NF1)是一种复杂的遗传性疾病,常伴有神经皮肤表现和认知障碍。本病例报告研究了一名患有NF1的9岁儿童,该儿童伴有多种精神疾病合并症,包括自闭症谱系障碍(ASD)、注意力缺陷多动障碍(ADHD)和学业技能发育障碍(DDSS)。该儿童在日常功能和学业表现方面存在显著损害。综合评估发现其社交沟通和重复行为方面存在与ASD一致的缺陷,以及注意力不集中和多动症状,提示ADHD。此外,该儿童在阅读、写作和数学方面存在困难,与DDSS相符。本报告强调了对NF1儿童进行诊断评估以识别和处理共病精神疾病的重要性。NF1与这些合并症之间的关联表明存在相似的神经生物学基础,可能涉及神经通路中断和大脑发育改变。实施了早期干预策略,包括行为疗法、教育支持和适当的药物治疗,以满足该儿童的需求。本病例强调了个性化方法对于改善NF1及多种精神疾病合并症儿童的发育、认知和心理结果的重要性。有必要进行进一步研究,以更好地理解驱动这些关联的机制并指导治疗策略。