Usiskin S I, Nicolson R, Krasnewich D M, Yan W, Lenane M, Wudarsky M, Hamburger S D, Rapoport J L
Child Psychiatry Branch, NIMH, Bethesda, MD, USA.
J Am Acad Child Adolesc Psychiatry. 1999 Dec;38(12):1536-43. doi: 10.1097/00004583-199912000-00015.
Deletion of chromosome 22q11 (velocardiofacial syndrome) is associated with early neurodevelopmental abnormalities and with schizophrenia in adults. The rate of 22q11 deletions was examined in a series of patients with childhood-onset schizophrenia (COS), in whom early premorbid developmental and cognitive impairments are more pronounced than in adult-onset cases.
Through extensive recruiting and screening, a cohort of 47 patients was enrolled in a comprehensive study of very-early-onset schizophrenia. All were tested with fluorescence in situ hybridization for deletions on chromosome 22q11.
Three (6.4%) of 47 patients were found to have a 22q11 deletion. All 3 COS patients with 22q11 deletions had premorbid impairments of language, motor, and social development, although their physical characteristics varied. Brain magnetic resonance imaging revealed increased midbody corpus callosum area and ventricular volume in relation both to healthy controls and to other COS patients.
The rate of 22q11 deletions in COS is higher than in the general population (0.025%, p < .001) and may be higher than reported for adult-onset schizophrenia (2.0%, p = .09). These results suggest that 22q11 deletions may be associated with an earlier age of onset of schizophrenia, possibly mediated by a more salient neurodevelopmental disruption.
22号染色体q11区域缺失(心脏颜面综合征)与早期神经发育异常及成人精神分裂症相关。本研究检测了一系列儿童期起病的精神分裂症(COS)患者中22q11缺失的发生率,这类患者病前早期发育和认知损害比成人起病的病例更为明显。
通过广泛招募和筛查,47例患者纳入一项极早发精神分裂症的综合研究。所有患者均接受荧光原位杂交检测22号染色体q11区域的缺失情况。
47例患者中有3例(6.4%)被发现存在22q11缺失。所有3例有22q11缺失的COS患者病前均有语言、运动和社交发育障碍,尽管其身体特征各不相同。脑磁共振成像显示,与健康对照及其他COS患者相比,胼胝体中部面积和脑室容积增加。
COS患者中22q11缺失的发生率高于一般人群(0.025%,p <.001),可能也高于成人起病精神分裂症的报道发生率(2.0%,p = 0.09)。这些结果表明,22q11缺失可能与精神分裂症更早的起病年龄有关,可能是由更显著的神经发育破坏介导的。