INCLEN diagnostic tool for attention deficit hyperactivity disorder (INDT-ADHD): development and validation

Objective

To develop and validate INCLEN Diagnostic Tool for Attention Deficit Hyperactivity Disorder (INDT-ADHD).

Design

Diagnostic test evaluation by cross sectional design. Setting: Tertiary care pediatric centers.

Participants

156 children aged 65–117 months.

Methods

After randomization, INDT-ADHD and Connor’s 3 Parent Rating Scale (C3PS) were administered, followed by an expert evaluation by DSM-IV-TR diagnostic criteria.

Main outcome measures

Psychometric evaluation of diagnostic accuracy, validity (construct, criterion and convergent) and internal consistency.

Results

INDT-ADHD had 18 items that quantified symptoms and impairment. Attention deficit hyperactivity disorder was identified in 57, 87 and 116 children by expert evaluation, INDT-ADHD and C3PS, respectively. Psychometric parameters of INDT-ADHD for differentiating attention deficit hyperactivity disorder and normal children were: sensitivity 87.7%, specificity 97.2%, positive predictive value 98.0% and negative predictive value 83.3%, whereas for differentiating from other neuro-developmental disorders were 87.7%, 42.9%, 58.1% and 79.4%, respectively. Internal consistency was 0.91. INDT-ADHD has a 4-factor structure explaining 60.4% of the variance. Convergent validity with Conner’s Parents Rating Scale was moderate (r =0.73, P= 0.001).

Conclusions

INDT-ADHD is suitable for diagnosing attention deficit hyperactivity disorder in Indian children between the ages of 6 to 9 years.     

INCLEN diagnostic tool for epilepsy (INDT-EPI) for primary care physicians: Development and validation

Objective

To evaluate the diagnostic accuracy of a new diagnostic instrument for epilepsy — INCLEN Diagnostic Tool for Epilepsy (INDT-EPI) — with evaluation by expert pediatric neurologists.

Study design

Evaluation of diagnostic test.

Setting

Tertiary care pediatric referral centers in India.

Methods

Children aged 2–9 years, enrolled by systematic random sampling at pediatric neurology out-patient clinics of three tertiary care centers were independently evaluated in a blinded manner by primary care physicians trained to administer the test, and by teams of two pediatric neurologists.

Outcomes

A 13-item questionnaire administered by trained primary care physicians (candidate test) and comprehensive subject evaluation by pediatric neurologists (gold standard).

Results

There were 240 children with epilepsy and 274 without epilepsy. The candidate test for epilepsy had sensitivity and specificity of 85.8% and 95.3%; positive and negative predictive values of 94.0% and 88.5%; and positive and negative likelihood ratios of 18.25 and 0.15, respectively.

Conclusion

The INDT-EPI has high validity to identify children with epilepsy when used by primary care physicians.     

INCLEN Diagnostic Tool for Neuromotor Impairments (INDT-NMI) for primary care physician: Development and validation

Objectives

To develop and validate a diagnostic tool for use by primary care physicians for diagnosing neuro-motor impairment among 2–9 year old children in primary care settings.

Study design

Modified Delphi technique involving national (n=49) and international (n=6) experts was used for development of INDT-NMI. The tool was then validated through a cross sectional study.

Setting

Neurology specialty clinics of three tertiary care pediatric centers in New Delhi, India.

Participants

454 children aged 2–9 years [mean (SD) age: 60.4 (23.7) mo], selected through systematic random sampling, underwent assessment for identification and classification of neuromotor impairments (NMI).

Intervention

All study subjects were first administered INDT-NMI (candidate test) by a trained physician followed by expert assessment for NMI and other neurodevelopment disorders (NDD) by team of two pediatric neurologists (Gold standard).

Results

According to expert evaluation, 171 (37.8%) children had neuromotor impairments. There were four categories of subjects: NMI alone (n=66); NMI+other NDDs (n=105); Other NDDs without NMI (n=225) and ‘Normal’ group (n=58). Using expert evaluation as gold standard, overall sensitivity of the INDT-NMI was 75.4% and specificity was 86.8%. INDT-NMI helped graduate physicians to correctly classify 86.6% (112/129) children with NMI into different types (cerebral palsy, neuromotor diseases and other NMI). Graduate physicians assigned 40 children (8.8%) as ‘indeterminate’, 38 (95%) of whom had either NDD and/or NMI and thus merited referral. Misclassification of NMI occurred in those with mild changes in muscle tone, dystonia, or ataxia and associated NDDs.

Conclusion

Graduate primary care physicians with a structured short training can administer the new tool and diagnose NMI in 2–9 year old children with high validity. INDT-NMI requires further evaluation in actual primary care settings.     

Dasl(n)e: the challenge of developing a regional database for autism spectrum disorder

The setting up of a database of children with autism spectrum disorder (ASD) in the north east of England is described. Best practice has been followed and included involving parents in planning and implementation at all stages, oversight by a multi-agency group, management by a multidisciplinary steering group, and independent administration of the database. From a potential listing of 986 children with ASD aged 3-12 years, the parents of 511 have so far responded (51.8%), although response rate varies considerably by local authority. Data checking has shown the information to be valid and case ascertainment broadly representative. The uses to which the data are being put and the continuing challenges are outlined.     

Autism and autism spectrum disorders: diagnostic issues for the coming decade

A decade and a half have elapsed since DSM-IV and ICD-10 appeared. During this time the convergent definitions of autism and related disorders in these two diagnostic systems have stimulated tremendous research. In this brief review we summarize areas of progress and continuing controversy, including approaches to diagnosis in more cognitively able individuals on the autism spectrum, diagnosis in very young infants, the issue of subtypes, and the potential contribution of genetic research. The use of dimensional assessments has some advantages as do the insights from prospective studies. At this point it will be important to study not only causative factors but developmental processes disrupted in these disorders.     

Diagnostic Accuracy of International Epidemiology Network (INCLEN) Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD) in Comparison with Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5)

Objective

To compare the diagnostic accuracy of INCLEN Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD) against Diagnostic and Statistical Manual of Mental Disorders–5 (DSM-5) for the diagnosis of Autism Spectrum Disorder (ASD).

Methods

118 children aged 2–9 years with symptoms suggestive of ASD were assessed by INDT-ASD and DSM-V by trained personnel. ASD diagnosis by INDT-ASD was compared against the expert’s DSM-5 diagnosis.

Results

INDT-ASD had a sensitivity and specificity of 100% and 75%, respectively against DSM-5 for the diagnosis of ASD; specificity for Autistic Disorder was 87%.

Conclusion

The INDT-ASD has a good sensitivity and specificity against DSM-5, and can continue to be used for the diagnosis of ASD even after the adoption of DSM-5 criteria.

     

孤独症谱系障碍儿童的运动技能障碍

孤独症谱系障碍(autism spectrum disorders, ASD儿童的运动技能障碍常表现为早期运动落后、协调障碍、体能下降及视动整合障碍等,在不同程度上影响了他们的生活、学习及社会交往。由于ASD儿童的核心症状相对明显,故其运动技能障碍常常会被忽视。ASD儿童应早期进行运动功能的监测,选择合适方法进行运动评估,针对其运动技能障碍特点进行相应训练,以促进其运动技能的发育,从而辅助改善其核心功能障碍。运动干预在改善ASD儿童功能的证据日益增加,临床上不应该忽视ASD儿童的运动技能障碍及其康复干预,而应得到更多关注。     

孤独症谱系障碍易感基因相关研究进展

孤独症谱系障碍(ASD)是神经发育过程中的一种发育障碍性疾病,是多个易感基因参与发病的多基因疾病。目前已报道的易感基因有100 多个,相关研究包括易感基因的染色体位点研究、易感基因筛查研究和易感基因的表观遗传学异常。已报道的易感基因编码的蛋白质有:神经细胞粘着分子;离子通道蛋白;支架蛋白;蛋白激酶、受体、载体;信号通路调控蛋白以及昼夜节律相关蛋白。易感基因突变和表达调控机制的研究进展有助了解ASD 的遗传参与的发病机制,可望能给ASD 的诊断和治疗提供新的思路。该文对ASD 易感基因方面的研究现状进行了综述。     

孤独症谱系障碍儿童的康复干预模式

该文介绍了孤独症谱系障碍的康复干预模式的分类,并依据循证依据(evidence-base practice,EBP)以及混合性研究方式(mixing methodologies)判断有效的基础上举例介绍我国目前使用的一些方法及其进展。     

孤独症谱系障碍的共患病与药物治疗

孤独症谱系障碍(autism spectrum disorder, ASD是一组多因素导致的大脑发育障碍性疾病,目前尚无特效药物,以行为干预为主。ASD的共患病在ASD儿童中极为常见,共患病的存在对ASD的治疗和预后有着重要影响。近年来,ASD的病因研究及行为干预已成为国内外研究热点,但其共患病及药物干预的研究较少,为此,笔者就国内外相关文献加以概述,希望对临床ASD共患病及药物治疗研究有所帮助。     

维生素D与孤独症谱系障碍的关系

孤独症谱系障碍（ASD）是一种复杂的与多个遗传和环境危险因素有关的神经发育障碍。过去几年遗传和环境因素间相互作用已成为研究的热点。最近提出了维生素D缺乏可能是ASD的一个环境危险因素。维生素D在维持大脑内稳态、促进胚胎和神经发育、免疫调节（包括大脑自身的免疫系统）、抗氧化、抗凋亡、影响神经分化及基因调控方面都有独特的作用。多项研究表明ASD患儿血清中维生素D浓度相比健康儿童存在显著降低。因此,母孕期和儿童早期缺乏维生素D可能是引起ASD的环境危险因素之一。     

孤独症谱系障碍的多学科合作研究与干预

孤独症谱系障碍（autism spectrum disorder,ASD）是一组临床异质性高的神经发育障碍性疾病,常伴有共患病,其病因尚不明确,终身致残率高,可致儿童、青少年和成人在社交、认知和语言发展以及适应性功能等多个方面的障碍;在研究和干预中多学科（multidisciplinary）合作是新趋势,以从不同层面探究病因机制和临床转化;并提倡集合不同专业背景的人员对ASD患者及其家庭进行帮助,对临床诊断、教育、健康和社会关怀等方面的决策制定提供支持。     

Parental evaluation of a revised autism spectrum disorder diagnostic process for children under 36 months of age

BackgroundThe Alberta Children’s Hospital-Autism Spectrum Disorder Diagnostic Clinic (ACH-ASDC) was restructured due to long wait times and unsustainable clinic workflow. Major changes included the initiation of pre- and post-ASD parent education sessions and distinct ASD screening appointments before the ASD diagnostic appointment.MethodsWe conducted a parental program evaluation in summer 2018 of the ACH-ASDC. We used a cross-sectional survey to evaluate key outcomes including parental satisfaction, and the percentage of families obtaining access to government supports and early intervention programs.ResultsFor the 101 eligible patients diagnosed with ASD under 36 months of age 70 (69.3%) parents agreed to participate. The mean diagnostic age of the children diagnosed with ASD was 30.6 months (SD=4.1 months). There were no statistically significant age differences between biological sexes. Ninety-three per cent of parents felt that ASD educational sessions were useful, and 92% of parents were satisfied to very satisfied with the overall ASD diagnostic process. Ninety per cent of parents had access to at least one of the key resources available for ASD early intervention in our province following diagnosis. Parents reported a positive impact on intervention provided to their child in the areas of communication, social interaction, and behaviour.ConclusionParents of children diagnosed with ASD expressed a high level of satisfaction with the restructured ACH-ASDC process. Implementing parent education sessions was well received and met parents’ needs. Parents were able to access intervention services following diagnosis and reported positive impacts for their child. Re-envisioning program approaches to incorporate novel strategies to support families should be encouraged.