Neurodevelopmental disease

神经发育疾病
  • 文章类型: Journal Article
    Domoicacid(DA)是一种由假硝化硅藻产生的天然存在的海洋神经毒素。成年加州海狮(Zalophuscalifornianus)可以经历多种暴露后综合征,包括急性中毒和慢性癫痫。此外,建议在子宫内暴露的加利福尼亚海狮(CSL)出现延迟发作的癫痫综合征。此简短报告探讨了一例CSL发展为成年发作性癫痫并伴有进行性海马神经病理学。相对于脑大小的初始脑磁共振成像(MRI)和海马体积分析是正常的。大约7年后,评估新发展的癫痫综合征的MRI研究显示单侧海马萎缩。虽然不能完全排除单侧海马萎缩的其他原因,该病例可能是CSL中成人发作的癫痫样DA中毒的体内证据.通过估计子宫内DA暴露时间,从对实验室物种的研究中推断出来,该病例为子宫内暴露与成人发病疾病相关的神经发育解释提供了间接证据.妊娠暴露于自然发生的DA的继发疾病发展延迟的证据对海洋哺乳动物医学和公共卫生具有广泛的意义。
    Domoic acid (DA) is a naturally occurring marine neurotoxin produced by Pseudo-nitzschia diatoms. Adult California sea lions (Zalophus californianus) can experience multiple post-exposure syndromes, including acute toxicosis and chronic epilepsy. Additionally, a delayed-onset epileptic syndrome is proposed for California sea lions (CSL) exposed in utero. This brief report explores a case of a CSL developing adult-onset epilepsy with progressive hippocampal neuropathology. Initial brain magnetic resonance imaging (MRI) and hippocampal volumetric analyses relative to brain size were normal. Approximately 7 years later, MRI studies to evaluate a newly developed epileptic syndrome demonstrated unilateral hippocampal atrophy. While other causes of unilateral hippocampal atrophy cannot be completely excluded, this case may represent in vivo evidence of adult-onset epileptiform DA toxicosis in a CSL. By estimating in utero DA exposure time period, and extrapolating from studies conducted on laboratory species, this case provides circumstantial evidence for a neurodevelopmental explanation correlating in utero exposure to adult-onset disease. Evidence of delayed disease development secondary to gestational exposure to naturally occurring DA has broad implications for marine mammal medicine and public health.
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  • 文章类型: Journal Article
    通过对中国基因诊断患者的疾病成本分析,研究神经发育疾病(NDDs)的负担。
    我们从2020年9月1日至2021年1月30日招募了具有遗传诊断(GD)的NDD患者(0-18岁)。我们收集了诊断细节的基本信息,以及直接医疗费用,接受GD前后的直接非医疗成本和间接成本。我们通过计算每位患者每天的成本来纠正时间偏差的成本。
    对于502名患有NDD的患者,平均年龄为4.08±3.47。家庭收入平均每月0.6(0.4,1.0)10,000元。直接医疗费用,直接非医疗成本和间接成本分别为12.27(7.36,22.23)万元人民币,每位患者1.45(0.73,2.69)10,000元人民币和14.14(4.80,28.25)10,000元人民币,分别。每位患者平均从保险中获得1.20(0.34,3.60)万元人民币(15.91%)。收到GD后的每日总成本比GD前降低约62.48%(191.59元人民币与71.45元人民币)。实验室成本的下降范围(95.77%,P<0.05)最大,其次是毒品(91.39%,P<0.05),住院治疗(90.85%,P<0.05),和咨询(57.41%,P<0.05)。康复费用略有增加,但差异无统计学意义(P>0.05)。诊断年龄小于1岁时,每位患者的每日直接医疗费用从311.79元下降到77.14元,下降了75.26%(P<0.05),诊断年龄为1-3岁和3岁以上分别下降了49.30%(P<0.05)和8.97%(P>0.05)。
    早期基因诊断对于减少疾病负担至关重要,因为当他们在年轻时被诊断时,花费的钱较少。NDD患者会招致沉重的经济负担,特别是在康复成本和间接成本方面,因为病人的保险范围很低,因此,政府迫切需要更多地关注这些问题。
    To study the burden of neurodevelopmental diseases (NDDs) via cost-of-illness analysis of Chinese patients with genetic diagnosis.
    We recruited NDD patients (0-18 years old) with genetic diagnosis (GD) from September 1, 2020 to January 30, 2021. We gathered basic information on the details of diagnosis, as well as the direct medical cost, direct non-healthcare cost and indirect cost before and after receiving GD. We corrected the cost for time biases by calculating the cost per day for each patient.
    For the 502 patients with NDDs, the mean age was 4.08 ± 3.47. The household income was 0.6 (0.4, 1.0) 10,000 CNY per-month on average. The direct medical cost, direct non-healthcare cost and indirect cost were 12.27 (7.36, 22.23) 10,000 CNY, 1.45 (0.73, 2.69)10,000 CNY and 14.14(4.80, 28.25) 10,000 CNY per patient, respectively. Every patient received 1.20 (0.34, 3.60) 10,000 CNY on average (15.91%) from insurance. The daily total cost after receiving GD were ~62.48% lower than those before GD (191.59 CNY vs. 71.45 CNY). The descend range of lab cost (95.77%, P < 0.05) was the largest, followed by drugs (91.39%, P < 0.05), hospitalization (90.85%, P < 0.05), and consultation (57.41%, P < 0.05). The cost of rehabilitation kept slightly increasing but there were no significant differences (P > 0.05). The daily direct medical cost of each patient fell by 75.26% (P < 0.05) from 311.79 CNY to 77.14 CNY when the diagnostic age was younger than 1, and declined by 49.30% (P < 0.05) and 8.97% (P > 0.05) when the diagnostic age was 1-3 and older than 3, respectively.
    Early genetic diagnosis is crucial for to reducing the burden of disease because of the amount of money spent was lower when they are diagnosed at younger age. Patients with NDDs can incur a heavy economic burden, especially in rehabilitation cost and indirect cost, because the insurance coverage for patients is low, so it is urgent for governments to pay more attention to these issues.
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  • 文章类型: Journal Article
    目的:宫内暴露影响子代健康和发育。在这里,我们调查了孕妇在怀孕期间摄入甜碳酸饮料(SCB)及其与后代ADHD症状的关系。
    方法:这项研究基于挪威母亲,父亲和儿童队列研究(MoBa)和挪威医学出生登记处。使用食物频率问卷(FFQ)评估孕妇怀孕中期的饮食。所有对FFQ做出回应的母亲和孩子8岁时的问卷都包括在内(n=39,870)。暴露定义为母体摄入(每日份量)SCB,不使用每日摄入量作为参考。结果是后代ADHD症状,评估为连续的标准化ADHD评分和六个或更多个ADHD症状的二元结果与五个症状或更少。使用对数二项回归和线性混合回归模型分析关联,并调整协变量。
    结果:对于母亲每日摄入≥1杯SCB,标准ADHD后代症状评分的调整回归系数为0.31[95%置信区间(0.001,0.62)]和0.46(0.15,0.77),当模型包括对总能量摄入或来自SCB和甜饮料以外的其他来源的能量摄入的调整时,分别。相应的调整后相对风险为1.16(1.004,1.34)和1.21。(1.05,1.39)每天饮用≥1杯。
    结论:在一个有后代直到8岁的大型妊娠队列中,我们发现母亲每日摄入SCB与后代ADHD症状之间存在关联.这些结果表明,产前暴露于SCB与后代ADHD之间存在微弱的正相关关系。
    OBJECTIVE: Intrauterine exposures influence offspring health and development. Here we investigated maternal intake of sweetened carbonated beverages (SCB) during pregnancy and its association with ADHD symptoms in the offspring.
    METHODS: This study was based on the Norwegian Mother, Father and Child Cohort Study (MoBa) and the Medical Birth Registry of Norway. Maternal diet mid-pregnancy was assessed using a food frequency questionnaire (FFQ). All mothers who responded to the FFQ and a questionnaire when their child was 8 years of age were included (n = 39,870). The exposure was defined as maternal intake (daily servings) of SCB, using no daily intake as reference. Outcome was offspring ADHD symptoms, evaluated as a continuous standardized ADHD score and as a binary outcome of six or more ADHD symptoms vs. five symptoms or less. Associations were analysed using log-binomial regression and linear mixed regression models with adjustment for covariates.
    RESULTS: The adjusted regression coefficients for the standardized ADHD offspring symptom score were 0.31 [95% confidence intervals (0.001, 0.62)] and 0.46 (0.15, 0.77) for maternal daily intake of ≥ 1 glasses of SCB, when the models included adjustments for total energy intake or energy intake from other sources than SCBs and sweet drinks, respectively. The corresponding adjusted relative risks were 1.16 (1.004, 1.34) and 1.21. (1.05, 1.39) for drinking ≥ 1 glasses daily.
    CONCLUSIONS: In a large pregnancy cohort with offspring followed until 8 years of age, we found an association between maternal daily intake of SCB and offspring ADHD symptoms. These results suggest a weak positive relationship between prenatal exposure to SCB and offspring ADHD.
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  • 文章类型: Journal Article
    OBJECTIVE: Dup15q syndrome is a rare genetic disease with a fairly nonspecific phenotype, clinical heterogeneity, and a wide spectrum of severity. However, no formal characterization has been attempted to select clusters of symptoms, signs and instrumental tests, to be used in the differential diagnosis with other neurodevelopmental disorders. Thus, our purpose was to identify symptoms, signs and instrumental findings, singly or in various combinations, favoring the early diagnosis of the Dup15q syndrome and the indication for genetic testing.
    METHODS: 25 patients with Dup15q syndrome and 25 age and sex matched controls with other neurodevelopmental disorders were the study population. Patients\' history, clinical and instrumental assessment were examined by five expert child neurologists blind to the genetic diagnosis. Each rater was asked to make the diagnosis in three subsequent steps: 1. Revision of the medical records; 2. Examination of the videorecorded clinical findings; 3. Assessment of the instrumental tests. Inter-rater agreement was measured with the Kendall\'s coefficient of concordance) and the Kappa statistic. Sensitivity, specificity and predictive values for symptoms, signs and instrumental findings, singly or in various combinations, were measured.
    RESULTS: The Kendall\'s coefficient for the diagnosis of Dup15q syndrome was 0.43 at step 1 was 0.43, at step 2 was 0.42, at step 3. Patients with past feeding difficulties, hypotonia during the neonatal period, and epilepsy had >80 % probability of having the Dup15q syndrome.
    CONCLUSIONS: Feeding difficulties, hypotonia and epilepsy, though unspecific, can be used as signals of Dup15q syndrome and focused search of genetic abnormalities.
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