SMAD6 Genotype Predicts Neurodevelopment in Nonsyndromic Craniosynostosis.

SMAD6 基因型预测非综合征性颅缝早闭的神经发育。

  • 影响因子:1.74
  • DOI:10.1097/PRS.0000000000006319
  • 作者列表:"Wu RT","Timberlake AT","Abraham PF","Gabrick KS","Lu X","Peck CJ","Sawh-Martinez RF","Steinbacher DM","Alperovich MA","Persing JA
  • 发表时间:2020-01-01

BACKGROUND:De novo or rare transmitted mutations in the SMAD6 gene affect 7 percent of midline nonsyndromic synostosis patients. This study aimed to determine the neurocognitive sequelae of SMAD6 synostosis. METHODS:Nonsyndromic synostosis patients 6 years or older with SMAD6 mutations and non-SMAD6 nonsyndromic synostosis controls were recruited. All patients completed a double-blinded neurodevelopmental battery (i.e., Wechsler Fundamentals, Wechsler Abbreviated Scale of Intelligence, Beery-Buktenica Developmental test), and parents/guardians completed behavioral surveys (Behavior Rating Inventory of Executive Function and Behavior Rating System for Children). RESULTS:Twenty-eight patients participated: 10 known SMAD6 patients (average age, 10 years; 1 female; eight metopic and two sagittal; nine treated with cranial vault remodeling and one treated with strip craniectomy) and 18 non-SMAD6 controls (age, 9.5 years; three female; 12 metopic and six sagittal; 17 treated with cranial vault remodeling and one treated with strip craniectomy). There were no differences between any demographics. Testing age, surgical age, parental education, and household income correlated with cognition (p < 0.05). After controlling for these factors, SMAD6 patients performed worse on numerical operations (p = 0.046), performance intelligence quotient (p = 0.018), full-scale intelligence quotient (p = 0.010), and motor coordination (p = 0.043) compared to age/race/gender/synostosis/operation-matched controls. On behavioral surveys, SMAD6 patients scored worse on 14 assessments, including aggression, communication, and behavior. CONCLUSIONS:This prospective double-blinded study revealed that neuropsychiatric development of nonsyndromic synostosis may be under genetic control. SMAD6 mutations led to poorer mathematics, performance intelligence quotient, full-scale intelligence quotient, and motor coordination, even after controlling for exogenous factors. Genetic testing may be critical for advocating early adjunctive neurodevelopmental therapy. CLINICAL QUESTION/LEVEL OF EVIDENCE:Risk, II.


背景: SMAD6 基因的新生或罕见传播突变影响 7% 的中线非综合征性滑膜病患者。本研究旨在确定SMAD6 滑膜病的神经认知后遗症。 方法: 招募 6 岁以上SMAD6 基因突变的非综合征性滑膜病患者和non-SMAD6 非综合征性滑膜病对照者。所有患者完成了双盲神经发育电池 (即,韦氏基础知识、韦氏智力缩写量表、Beery-Buktenica发育测验) 和父母/监护人完成了行为调查 (儿童执行功能和行为评定系统的行为评定量表)。 结果: 28 例患者参与: 10 例已知SMAD6 患者 (平均年龄 10 岁; 1 例女性; 8 例metopic,2 例矢状位; 9 例颅骨穹窿重塑,1 例颅骨剥脱术治疗) 和 18 例non-SMAD6 对照 (年龄 9.5 岁; 3 例女性; 12 例metopic和 6 例矢状位;17 例采用颅骨穹隆重塑治疗,1 例采用条状颅骨切除术治疗)。任何人口统计学之间没有差异。检测年龄、手术年龄、父母文化程度和家庭收入与认知相关 (p <0.05)。控制这些因素后,SMAD6 患者在数字操作 (p = 0.046) 、性能智商 (p = 0.018) 、全量表智商 (p = 0.010) 、和运动协调 (p = 0.043) 与年龄/种族/性别/滑膜病变/手术匹配的对照相比。在行为调查中,SMAD6 患者在 14 项评估中得分更差,包括攻击、交流和行为。 结论: 这项前瞻性双盲研究揭示了非综合征性滑膜病的神经精神发展可能受到遗传控制。SMAD6 突变导致较差的数学、性能智商、全面智商和运动协调,即使在控制了外源性因素之后。基因检测对于倡导早期辅助神经发育治疗可能至关重要。 临床问题/证据水平: 风险,II。



作者列表:["Peyroux E","Babinet MN","Cannarsa C","Madelaine C","Favre E","Demily C","Michael GA"]

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.

作者列表:["Sheridan GA","Nagle M","Howells C","Gallagher O","Kiely PJ","O'Toole P","Kelly PM","Moore DP"]

METHODS:BACKGROUND:We describe the first radiographic clinic in the literature for DDH and how this novel clinic can significantly improve the efficiency and cost-effectiveness of service in a tertiary referral centre. AIMS:A radiographic clinic for the management of developmental dysplasia of the hip was introduced in 2017 in our institution. We performed a detailed cost analysis to assess the economic savings made with the introduction of this new clinic. We assessed the efficiency of the service by identifying how many unnecessary outpatient visits were prevented. We also assessed the difference in times from referral to review between the two clinics. METHODS:Analysis of the clinic activity in 2017 was possible as all data was collected prospectively by the DDH CNS and stored in our database. Cost analysis was performed, and the savings made per patient along with the financial benefit to our institution was recorded. RESULTS:The new radiographic clinic reduced the cost of reviewing one patient by €162.51 per patient. There was a 73% discharge rate from the clinic which prevented 251 unnecessary patient visits to the outpatient department over the course of the year. There was a significant 11-day reduction in waiting times between referral and review when comparing the radiographic to the conventional clinic (p < 0.05). CONCLUSIONS:A radiographic clinic for the management of developmental dysplasia of the hip has a significant effect on the efficiency and overall cost-effectiveness of service provision in a tertiary referral centre.

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作者列表:["Grigoryan G","Korcek L","Eidelman M","Paley D","Nelson S"]

METHODS:INTRODUCTION:Triple pelvic osteotomy (TPO) involves periacetabular osteotomies of the ilium, ischium, and pubis to reorient the acetabulum. This operation is indicated in certain situations for the treatment of developmental dysplasia of the hip, dysplastic neuromuscular hips, and for containment of the femoral head in cases of Legg-Calvé-Perthes disease. METHODS:This retrospective cohort study compares radiographic outcomes of patients who underwent TPO using two different techniques and describes a novel single-incision direct lateral approach. TPO was performed on 22 patients by the senior author. The first 10 patients underwent TPO through a single-incision anterolateral approach. The last 12 patients underwent TPO using the direct lateral approach. Preoperative and postoperative pelvic radiographs were reviewed for each patient, and the migration index and center-edge angle were recorded. RESULTS:The migration index and center-edge angle were evaluated and were not found to be significantly different between the anterolateral and direct lateral groups. The direct lateral approach is described. CONCLUSION:The direct lateral approach for TPO is equivalent to the anterolateral approach on radiographic evaluation. Advantages of the direct lateral approach include direct visualization of the ischial osteotomy, effective mobilization of the acetabulum, and safety of the sciatic nerve.

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