Alfieri Paolo, Montanaro Federica Alice Maria, Macchiaiolo Marina, Collotta Martina, Caciolo Cristina, Galassi Paolo, Panfili Filippo Maria, Cortellessa Fabiana, Zollino Marcella, Chinali Marcello, Accadia Maria, Seri Marco, Bartuli Andrea, Mammì Corrado, Tartaglia Marco, Vicari Stefano, Priolo Manuela
Child and Adolescent Neuropsychiatry Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Rare Diseases and Medical Genetics Unit, University - Hospital Pediatric Department (DPUO), Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Front Child Adolesc Psychiatry. 2023 Feb 21;2:1106228. doi: 10.3389/frcha.2023.1106228. eCollection 2023.
Malan syndrome (MALNS) is an ultra-rare genetic disorder caused by heterozygous chromosomal microdeletions involving the 19p13.2 region or loss-of-function variants in the gene. It is characterized by specific phenotypical features, intellectual disability (ID), and limitations in adaptive functioning and behavioral problems. In a previous work, we defined the cognitive, adaptive, linguistic and visuomotor ability profiles in a group of 15 MALNS individuals, providing quantitative data from standardized evaluations. Here, we further extend the characterization of MALNS by analyzing the behavioral and psychopathological comorbidities of the same cohort, administering standardized tests. Children were evaluated from October 2020 to January 2022. Retrospective data analysis was also performed. Assessment consisted of clinical observations, structured parent interviews, and parent-reported questionnaires. For each scale, comparisons between subtests were performed. Results of our analysis show that the most prevalent psychiatric comorbidities are represented by anxiety symptoms (including GAD, separation anxiety and specific phobias), ADHD, autistic symptoms, and social and attention problems. Of note, minimal or no signs of ASD were observed. In conclusion, our findings indicate that the psychopathological and behavioral comorbidities, together with cognitive impairment, language problems and sensory difficulties interfere with development, daily activities and social participation, therefore contributing to the severity of the disability associated with MALNS. Awareness of this profile by professionals and caregivers can promote prompt diagnosis and support cognitive and behavioral development.
马兰综合征（MALNS）是一种极为罕见的遗传性疾病，由涉及19p13.2区域的杂合染色体微缺失或该基因的功能丧失变异引起。其特征为特定的表型特征、智力残疾（ID）、适应性功能受限和行为问题。在之前的一项研究中，我们对一组15名马兰综合征患者的认知、适应性、语言和视觉运动能力概况进行了定义，提供了标准化评估的定量数据。在此，我们通过对同一队列进行标准化测试，分析其行为和精神病理合并症，进一步扩展了对马兰综合征的特征描述。对儿童的评估时间为2020年10月至2022年1月。我们还进行了回顾性数据分析。评估包括临床观察、结构化家长访谈和家长报告问卷。对于每个量表，我们对各子测试进行了比较。我们的分析结果表明，最常见的精神合并症表现为焦虑症状（包括广泛性焦虑症、分离焦虑症和特定恐惧症）、注意力缺陷多动障碍（ADHD）、自闭症症状以及社交和注意力问题。值得注意的是，未观察到或仅观察到极轻微的自闭症谱系障碍（ASD）迹象。总之，我们的研究结果表明，精神病理和行为合并症，连同认知障碍、语言问题和感觉障碍，会干扰发育、日常活动和社会参与，从而加重与马兰综合征相关的残疾严重程度。专业人员和护理人员对这一概况的了解有助于促进及时诊断，并支持认知和行为发展。
