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1.

Aim

We aimed to identify early predictors of intractable epilepsy, intellectual disability (ID) and autism spectrum disorders (ASD) in the cohort of TSC patients initially diagnosed with cardiac rhabdomyomas (CR).

Method

Over the period of twelve years we prospectively obtained clinical, neuropsychological, electrophysiological and neuroimaging data in a group of 22 TSC patients (9 females, 13 males) with the pre/perinatal diagnosis of CR, included to the study at the time of diagnosis. Afterwards, we statistically determined variables associated with ID, ASD and intractable epilepsy.

Results

Development of ID was predicted by severe epilepsy (a higher number of anti-epileptic drugs used), a higher number of dysplastic lesions on MRI, and abnormal background activity on EEG (p < 0.05). Predictors of ASD included early developmental delay, abnormal background activity on EEG at the end of follow-up and a higher number of areas with dysplastic features on MRI (p < 0.05). Intractable epilepsy was associated with a higher number of areas with dysplastic features on MRI, ID and with TSC2 genotype.

Conclusion

Adverse mental and clinical outcome was associated with intractable epilepsy and the severe anatomical brain involvement; therefore, our centre developed a tailored protocol for early identification of TSC patients at a higher risk of developing intractable epilepsy with its deleterious effect on cognitive outcome.  相似文献   
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Objective: To compare indirect and direct functional assessment of insistence on sameness associated with autism spectrum disorder (ASD) and typical development. Methods: Parents rated the function of insistence on sameness for a 6-year-old boy with ASD (Peter) and a typically developing 4-year-old boy (Nathan) using the Motivation Assessment Scale (MAS). Ratings were compared to the results of a direct assessment. Results: The results of the assessment procedures were mainly consistent for Peter and suggested that his tendency to insist on sameness was maintained by sensory consequences. The finding of an attention function for Nathan in the play-based assessment was consistent with previous functional assessment studies surrounding typically developing children, but in contrast to the MAS. Conclusion: While the play-based assessment may be more suitable for assessing the high rate insistence on sameness observed in individuals with ASD, the MAS may be more suitable for low rate insistence on sameness.  相似文献   
4.
ABSTRACT

Introduction: Individuals with Autism Spectrum Disorder display a pattern of social communication deficits and restricted and repetitive behaviors that leave them particularly vulnerable to developing anxiety. The presence of a co-occurring Intellectual Disability further complicates the situation, compromising traditional diagnostic techniques and processes. The dual diagnosis of ASD and ID appears to result in specific behavioral patterns that affect the way anxiety is identified in this population.

Method: A scoping review was undertaken to explore what is currently known about the way anxiety is identified and diagnosed in individuals with ASD and ID.

Results: In the limited research available consistent themes of difficulties with the diagnostic process, inconsistencies among measurement tools and the need to consider behavioral symptomology were found.

Conclusion: Further research needs to be conducted to enhance our understanding of how anxiety is identified in those with ASD and ID. This research could more accurately inform reliable diagnostic processes and lead to better treatment and outcomes for this population.  相似文献   
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目的:观察执行功能干预对孤独症谱系障碍( ASD)儿童的影响。方法将12例ASD儿童随机分为实验组和对照组,每组6例,两组均接受常规的培智、康复等训练。实验组患儿同时采用执行功能训练系统进行执行功能训练,内容包括抑制控制能力、工作记忆、认知灵活性等,其中抑制控制能力采用Stroop、Go/No-Go范式,工作记忆采用N-back范式,认知灵活性采用平板上的威斯康星卡片,一对一训练,30 min/d,每周训练5次,共12周。观察两组患儿干预前后抑制控制能力、认知灵活性、工作记忆和注意力的变化。结果干预后,实验组患儿抑制控制能力、认知灵活性、注意力明显改善(P<0.05),但工作记忆变化无统计学意义(P>0.05)。对照组患儿干预前后上述指标无改善(P>0.05)。实验组干预后形成性评价评分明显提高( P<0.05)。结论执行功能干预可改善ASD儿童的抑制控制能力、认知灵活性和注意力,但对于工作记忆的改善效果甚微。  相似文献   
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孤独症谱系障碍(ASD)是一组以社交障碍为主的神经发育性疾病,患病率呈逐年增加的趋势,且未见特效疗法,为此早诊断、早干预尤为重要.近些年,通过眼动技术研究,发现ASD在生命早期便存在异常的注视模式,有望将此作为ASD早期检测和诊断的生物标志物.现从ASD儿童异常的眼动模式、研究范式、大脑相关区域的联系及面孔加工四个方面,对ASD儿童运用眼动技术的研究文献进行梳理总结,阐述最新研究成果.  相似文献   
8.
Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are frequently comorbid disorders. Emotion recognition problems are considered an important familial deficit in ASD, but this is unknown in ADHD. Very few studies have directly compared emotion recognition performance of youth with ASD and/or ADHD and of their unaffected siblings across age to quantify the contribution of emotion recognition problems to the ADHD phenotype. We therefore devised a study of 64 ASD+ADHD participants, 89 ASD-only participants, 111 ADHD-only participants, 122 unaffected ASD(+ADHD) siblings, 69 unaffected ADHD-only siblings and 220 controls aged 7–18 years, who had completed two tasks assessing auditory and visual emotion recognition. Factor analysis was used to detect underlying dimensions of emotion recognition capacity. Linear mixed models were used to compare performance across groups and to assess age effects. The factor-analysis revealed four factors separating speed and accuracy regarding visual and auditory emotion recognition. ASD+ADHD, ASD-only, and ADHD-only participants all performed worse than controls. ASD+ADHD, ASD-only, and ADHD-only participants did not differ in the severity of their emotion recognition problems. Both unaffected sibling groups performed intermediate between patients and controls. For ASD+ADHD and ADHD-only participants, group differences were more marked in adolescence than childhood, whereas in ASD participants this was not observed. We conclude that emotion recognition problems are a familial deficit in ADHD to a similar extent as in ASD. Emotion recognition problems specifically - and social cognition problems more generally - should be assessed in clinical practice for ADHD.  相似文献   
9.

Introduction

Autism Spectrum Disorder (ASD) is known to be associated with Cognitive impairment, especially executive dysfunction. Cognitive Remediation Therapy (CRT) is a rehabilitation method aiming to produce improvement in cognitive processes by teaching information processing strategies through guided mental exercises. CRT has been used in patients with schizophrenia. Taking into account the overlap between ASD and schizophrenia, we aimed in this study to examine the effectiveness of CRT for cognitive flexibility, inhibition and school results in children with ASD.

Methods

Children meeting the Diagnostic and Statistical Manual for Mental Disorders (DSM-5) criteria for ASD were recruited from a clinical population at the Child and Adolescent Psychiatry Department in Razi University Hospital, Manouba, Tunisia. The CRT program was conducted at the rate of one session per week of 45 minutes each. The outcome measures were cognitive flexibility (by the mean of phonemic and semantic fluency), inhibition (using either Hayling Sentence Completion Task or Colors and Animals Attention Test [CAAT]), and school performance (assessed by school results). These outcomes were measured at baseline and one week after completion of the treatment.

Results

Of the 25 patients included, 16 achieved assessments tests after CRT, thus constituting our final sample. Their average age was 10.87 years. The average number of the performed sessions was 22.38. For semantic fluency, the mean score in “animals” category was 13.94 before CRT and 17 after it (P = 0.045). Concerning the “clothes” category, the mean score increased from 10.47 to 12 after completion of the program. As for phonemic fluency scores, patients displayed significant improvement (P = 0.032). Patients committed more repetitive and intrusive errors, an increase significant only on the “clothes” category. After achievement of the CRT program, a significant improvement was also shown on school results (P = 0.001). Concerning inhibition tests, patients showed no significant improvement.

Conclusion

The findings provide support for the effectiveness of CRT for enhancing executive functions in children and adolescents with ASD. Further studies are required to examine the durability of CRT effects in these children.  相似文献   
10.
Summary: The link between nutrition and autism spectrum disorder (ASD), which is a complex developmental disorder manifesting itself in significant delays or deviation in interaction and communication, has provided a fresh point of view and signals that nutrition may have a role in the aetiology of ASD, as well as play an active role in treatment by alleviating symptoms.

Objective: In this review study aimed at evaluating, with scientific and concrete proof, the current medical nutrition implementations on ASD, existing medical nutrition therapies have been addressed and their effects on ASD symptoms have been discussed in light of current research.

Methods: We reviewed articles regarding the medical nutritional therapy of autism on current nutritional approaches selected from PubMed, Science Direct, EBSCO, and databases about autism and nutrition.

Results: The research put forward that in individuals with ASD, while gluten-free/casein-free and ketogenic diets, camel milk, curcumin, probiotics, and fermentable foods can play a role in alleviating ASD symptoms, consumption of sugar, additives, pesticides, genetically modified organisms, inorganic processed foods, and hard-to-digest starches may aggravate symptoms.

Discussion: Further prospective controlled trials with large sample sizes are needed before recommendations can be made regarding the ideal ASD diet. This review emphasizes the value of identifying current nutritional approaches specific to individuals with ASD and integrating their effects on symptoms to the conversation and presents suggestions for future research designed to identify medical nutrition therapies targeting this population to better understand the link between ASD and nutrition.  相似文献   

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