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Cranial Fossa Volume and Morphology Development in Apert Syndrome.

Apert综合征的颅窝体积和形态发育。

  • 影响因子:1.74
  • DOI:10.1097/PRS.0000000000006679
  • 作者列表:"Lu X","Forte AJ","Wilson A","Steinbacher DM","Alperovich M","Alonso N","Persing JA
  • 发表时间:2020-04-01
Abstract

BACKGROUND:Apert syndrome causes normal or enlarged intracranial volume overall as patients grow. This study aimed to trace the segmental anterior, middle, and posterior cranial fossae volume and structural morphology in these patients, to help discern a more focused and individualized surgical treatment plan for patients with Apert syndrome. METHODS:This study included 82 preoperative computed tomographic scans (Apert, n = 32; control, n = 50) divided into five age-related subgroups. The scans were measured using image processing and three-dimensional modeling software. RESULTS:The middle cranial fossa volume was increased and was the earliest change noted. It was increased by 45 percent (p = 0.023) compared with controls before 6 months of age and remained increased into adulthood (161 percent, p = 0.016), with gradually increasing severity. The anterior and posterior cranial fossae volumes also increased, by 35 percent (p = 0.032) and 39 percent (p = 0.007), respectively. Increased depth of cranial fossae contributed most to the increase in volumes of patients with Apert syndrome, with correlation coefficients of 0.799, 0.908, and 0.888 for anterior, middle, and posterior cranial fossa, respectively. The intracranial volume was increased 12 percent (p = 0.098) across the entire test age range (0 to 26 years old), but only had statistical significance during the age range of 6 to 18 years (22 percent, p = 0.001). CONCLUSIONS:Malformation of the middle cranial fossa is an early, perhaps the initial, pivotal cranial morphologic change in Apert syndrome. Increased cranial fossae depth is an inherent characteristic of the maldevelopment. Normalization of cranial volume and circumference overall may not achieve a normal skull structure, as it does not correct regional craniocerebral disproportion.

摘要

背景: 随着患者的成长,Apert综合征导致整体颅内容量正常或增大。本研究旨在追踪这些患者节段性前、中、后颅窝体积和结构形态,以帮助辨别Apert综合征患者更有针对性和个体化的手术治疗方案。 方法: 本研究包括 82 例术前计算机断层扫描 (Apert,n = 32; 对照组,n = 50),分为 5 个年龄相关亚组。使用图像处理和三维建模软件测量扫描结果。 结果: 颅中窝容积增加,是最早观察到的变化。在 6 个月之前与对照组相比增加了 45% (p = 0.023),并保持增加到成人期 (161%,p = 0.016),严重程度逐渐增加。前、后颅窝容积也增加,分别增加 35% (p = 0.032) 和 39% (p = 0.007)。颅窝深度增加对Apert综合征患者体积增加的贡献最大,前、中、后颅窝的相关系数分别为 0.799 、 0.908 和 0.888。整个测试年龄范围 (0 至 26 岁) 的颅内体积增加了 12% (p = 0.098),但仅在 6 ~ 18 岁的年龄范围内有统计学意义 (22%,p = 0.001)。 结论: 中颅窝畸形是Apert综合征中早期的,可能是最初的,关键的颅骨形态改变。颅窝深度增加是发育不良的固有特征。整体颅骨体积和周长的正常化可能无法达到正常的颅骨结构,因为它不能纠正区域性颅脑比例失调。

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METHODS::Impairments in social cognition have been frequently described in 22q11.2 deletion syndrome (22q11.2DS) and are thought to be a hallmark of difficulties in social interactions. The present study addresses aspects that are critical for everyday social cognitive functioning but have received little attention so far. Sixteen children with 22q11.2DS and 22 controls completed 1 task of facial expression recognition, 1 task of attribution of facial expressions to faceless characters involved in visually presented social interactions, and 1 task of attribution of facial expressions to characters involved in aurally presented dialogues. All three tasks have in common to involve processing of emotions. All participants also completed two tasks of attention and two tasks of visual spatial perception, and their parents completed some scales regarding behavioural problems of their children. Patients performed worse than controls in all three tasks of emotion processing, and even worse in the second and third tasks. However, they performed above chance level in all three tasks, and the results were independent of IQ, age and gender. The analysis of error patterns suggests that patients tend to coarsely categorize situations as either attractive or repulsive and also that they have difficulties in differentiating emotions that are associated with threats. An isolated association between the tasks of emotion and behaviour was found, showing that the more frequently patients with 22q11.2DS perceive happiness where there is not, the less they exhibit aggressive behaviour.

影响因子:0.95
发表时间:2020-02-01
DOI:10.1007/s11845-019-02039-y
作者列表:["Sheridan GA","Nagle M","Howells C","Gallagher O","Kiely PJ","O'Toole P","Kelly PM","Moore DP"]

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影响因子:2.43
发表时间:2020-01-15
DOI:10.5435/JAAOS-D-16-00918
作者列表:["Grigoryan G","Korcek L","Eidelman M","Paley D","Nelson S"]

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