Annals of Neurosciences

Early detection of developmental delays in children can significantly help them realise their full potential. The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V), is the system in use at the moment to detect neurodevelopmental delays among children in the United States and other Western nations. However, due to cultural differences, there is a pertinent need for a content-validated module in the context of low- and middle-income countries, including India.

Sunanda Kolhe

Anand Prakash

Maxim Pereira

Content Validity of Teacher’s Evaluation of Neurodevelopmental Delays (TEDD) Tool for Indian Preschoolers

印度学龄前儿童神经发育迟缓教师评估工具的内容效度

The pathophysiology of dystonia in Wilson disease (WD) is complex and poorly understood. Copper accumulation in the basal ganglia, disrupts dopaminergic pathways, contributing to dystonia’s development via neurotransmitter imbalance. Despite advances in diagnosis and management, WD with dystonia remains a challenging condition to treat. We aim to report the unprecedented co-occurrence of pathogenic genetic variants in both the ATP7B and KMT2B genes in a patient with WD. A 13-year-old male presented at 12 with dysarthria and bilateral Kayser-Fleischer rings. Over months, dystonia spread to his left foot, upper limb, and trunk, accompanied by slowed daily activities. Diagnostic tests included MRI for brain structure, abdominal ultrasound for liver function, serum ceruloplasmin and copper levels to assess copper metabolism, and 24-hour urine copper tests for excretion levels. Whole exome sequencing was conducted using genomic DNA from peripheral blood samples. Variant classification followed guidelines from the American College of Medical Genetics and Genomics. The sequencing revealed compound heterozygous pathogenic variants in the ATP7B gene: NM_000053.4:c.2165dupT and NM_000053.4:c.813C&gt;A. A pathogenic variant in the KMT2B gene, NM_014727:c.3052delA, was identified. This case highlights WD co-occurrence with ATP7B and KMT2B mutations, suggesting KMT2B as a potential genetic modifier.

Mukesh Kumar

Aminu Aliyar

Arti Saini

Sridhar Sivasubbu

Vinod Scaria

Divya M Radhakrishnan

Roopa Rajan

Binukumar BK

Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation

前所未有的共现：在一名同时携带致病性ATP7B突变的威尔逊病患者中鉴定出KMT2B基因的致病性遗传变异

Background Cognitive behavioural therapy (CBT) is well known for its effectiveness in addressing psychiatric disorders such as depression, anxiety, PTSD, and borderline personality disorder, often used alongside medication. Summary CBT is used more often in the criminal justice system to help rehabilitate offenders by targeting cognitive distortions affecting their social and decision-making abilities. These maladaptive behaviours and sense of entitlement can result from distortions, which CBT works to address by restructuring thought patterns and encouraging adaptive behaviours. In general, CBT is a crucial method for decreasing repeat offences and dealing with mental health problems within the legal system. Key message CBT has demonstrated encouraging outcomes in decreasing reoffending rates in both youths and adults, aiding criminals in acquiring abilities to successfully re-enter society. Although it has replaced traditional rehabilitative services such as education and occupational therapy, its success highlights its importance in offender rehabilitation programmes. Nevertheless, inmates are frequently required to participate, causing doubts about their willingness to engage voluntarily.

Khyati Saxena

Anjali Sahai

Understanding the Effectiveness of Cognitive Behavioural Therapy: A Study on Offenders

理解认知行为疗法的有效性：一项针对犯罪者的研究

Introduction The Omicron variant of SARS-CoV-2 (COVID-19) became the global community’s third major cause of worry. In the current study, we deployed a self-reported survey questionnaire to investigate the degree of comprehension, awareness and perception of the Omicron variant of COVID-19 in patients with Parkinson’s disease (PD) and their respective caregivers (CGs). Materials and Methods Using a standardised questionnaire, we conducted a prospective study on PD patients attending the neurology outpatient department prior to and during the COVID-19 pandemic. The study period was between February and August of 2022. Results A total of 114 CGs and 134 disease-affected patients were evaluated. Approximately 1.8% of the CGs and 4.5% of the patients contracted the Omicron-COVID-19. Over half of the patients (77.6%) were aware of the Omicron variant, and approximately 40.3% of them were aware of its symptoms. After receiving the Covid immunisation, patients (94.02%) reported no change in symptoms. The percentage of patients and CGs who had no symptoms of the viral infection and were not even got tested ever was 95.5% and 98.2%, respectively. Further, patients (95.5%) opted for the ‘offline’ as a preferred mode of consultation, citing the precision of treatment being the main reason. Conclusion No definite correlation between the Omicron variant infection and symptoms of PD could be established. The awareness regarding Omicron variant was largely unknown. More patient-centred research on larger population groups, incorporating literate and urban groups would unravel the knowledge gaps.

Neetu Rani Dhiman

Vyom Gyanpuri

Anand Kumar

Deepika Joshi

Omicron-COVID-19-Related Knowledge in Parkinson’s Disease Patients and Their Caregivers: A Cross-sectional Study

奥密克戎相关COVID-19知识在帕金森病患者及其照护者中的认知情况：一项横断面研究

Gabriel de Deus Vieira

Marcelo Henrique De Moura Campos

Felipe Fanine de Souza

Isabelle Pastor Bandeira

Leticia Caroline Breis

Laura Fiuza Parolin

Júlia Machado Rickli

Caio César Demore

Beatriz Sordi Chara

Marco Antônio Machado Schlindwein

André Eduardo de Almeida Franzoi

Marcus Vinícius Magno Gonçalves

Spectrum of Neuroimmunological Manifestations of Dengue Fever

登革热神经免疫学表现的谱系

M L Charan

Krishan Kumar

Akshay Anand

Why Your Brain Needs a Walk in the Park: Residential Greenspaces as the Next Frontier in Brain Research and Treatment

为什么你的大脑需要去公园散步：居住绿地作为脑研究和治疗的下一个前沿

短名	Ann. Neurosci.
Journal Impact	1.77
国际分区	NEUROSCIENCES(Q4)

ISSN	0972-7531, 0976-3260
h-index	28

涉及主题	医学生物心理学内科学计算机科学神经科学化学精神科病理生物化学遗传学内分泌学物理
出版信息	出版商: Indian Academy of Neurosciences，出版周期: ，期刊类型: journal，开源期刊: 否
基本数据	创刊年份: 2011，原创研究文献占比: 76.92%，自引率:0.00%， Gold OA占比: 100.00%

Annals of Neurosciences

期刊引文格式

有 1 位以上作者的期刊

有 2 位作者的期刊

有 3 位作者的期刊

有 5 位以上作者的期刊

书籍引用格式

学位论文引用格式

网页引用格式

专利引用格式

手工熬夜修改参考文献？研飞自动匹配期刊，一键轻松成稿，支持 Word/WPS

投稿经验分享

Content Validity of Teacher’s Evaluation of Neurodevelopmental Delays (TEDD) Tool for Indian Preschoolers

Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation

Understanding the Effectiveness of Cognitive Behavioural Therapy: A Study on Offenders

Omicron-COVID-19-Related Knowledge in Parkinson’s Disease Patients and Their Caregivers: A Cross-sectional Study

Spectrum of Neuroimmunological Manifestations of Dengue Fever

Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation

Content Validity of Teacher’s Evaluation of Neurodevelopmental Delays (TEDD) Tool for Indian Preschoolers

Understanding the Effectiveness of Cognitive Behavioural Therapy: A Study on Offenders

Spectrum of Neuroimmunological Manifestations of Dengue Fever

Why Your Brain Needs a Walk in the Park: Residential Greenspaces as the Next Frontier in Brain Research and Treatment