Gao Lucy, Tang Sunny X, Yi James J, McDonald-McGinn Donna M, Zackai Elaine H, Emanuel Beverly S, Gur Ruben C, Calkins Monica E, Gur Raquel E
Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Am J Med Genet B Neuropsychiatr Genet. 2018 Dec;177(8):765-773. doi: 10.1002/ajmg.b.32690. Epub 2018 Nov 16.
Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with impairment in multiple domains of cognition and risk for several psychiatric disorders. Musical auditory processing is highly heritable, and is impaired in individuals with schizophrenia and other neurodevelopmental disorders, but has never been studied in 22q11DS, notwithstanding anecdotal evidence of its sparing. We aimed to characterize musical auditory processing in 22q11DS and explore potential relationships with other cognitive domains, musical engagement, and psychiatric disorders. The Distorted Tunes Task and Global Musical Sophistication Index were used to assess pitch discrimination and general musical engagement in 58 individuals with 22q11DS aged 8-29 years. Psychopathology was assessed with sections from the modified Schedule for Affective Disorders and Schizophrenia for School-Age Children and the Structured Interview for Prodromal Syndromes. The Penn computerized neurocognitive battery (CNB) examined four domains of cognition (executive functioning, episodic memory, complex cognition, and social cognition). Significant musical auditory processing impairment and reduced musical engagement were found in individuals with 22q11DS. However, deficits in musical auditory processing were not associated with reduced musical engagement. After covarying for age and sex, episodic memory and overall CNB performance accuracy were significantly related to performance in musical auditory processing. There were no relationships between musical auditory processing and presence of any psychiatric diagnoses. Individuals with 22q11DS experience significant deficits in musical auditory processing and reduced musical engagement. Pitch discrimination is associated with overall cognitive ability, but appears to be largely independent of psychiatric illness.
22号染色体长臂1区2带微缺失综合征（22q11DS）与多个认知领域的损害以及多种精神疾病的风险相关。音乐听觉加工具有高度遗传性，在精神分裂症和其他神经发育障碍患者中受损，但在22q11DS患者中从未进行过研究，尽管有其未受影响的轶事证据。我们旨在描述22q11DS患者的音乐听觉加工特征，并探索其与其他认知领域、音乐参与度和精神疾病之间的潜在关系。使用扭曲曲调任务和全球音乐素养指数评估了58名年龄在8至29岁的22q11DS患者的音高辨别能力和总体音乐参与度。使用针对学龄儿童的情感障碍和精神分裂症修订版量表以及前驱综合征结构化访谈的部分内容评估精神病理学。宾夕法尼亚计算机化神经认知测试组（CNB）检查了四个认知领域（执行功能、情景记忆、复杂认知和社会认知）。在22q11DS患者中发现了显著的音乐听觉加工损害和音乐参与度降低。然而，音乐听觉加工缺陷与音乐参与度降低无关。在对年龄和性别进行协变量调整后，情景记忆和CNB总体表现准确性与音乐听觉加工表现显著相关。音乐听觉加工与任何精神疾病诊断的存在均无关联。22q11DS患者在音乐听觉加工方面存在显著缺陷，音乐参与度降低。音高辨别与总体认知能力相关，但似乎在很大程度上独立于精神疾病。
