Review
Behavioral Sciences
Lisie Valeria Paz, Thiago Wendt Viola, Bruna Bueno Milanesi, Juliana Henz Sulzbach, Regis Gemerasca Mestriner, Andrea Wieck, Leder Leal Xavier
Summary: Contagious depression theory suggests that depression can be induced or triggered by our social environment. This theory is based on the concept of emotional contagion, which states that affective states can be transferred during social interaction. This review summarizes two essential mechanisms of contagious depression - automatic mimicry and the mirror neuron system.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2022)
Review
Genetics & Heredity
Liliana Rojas-Charry, Leonardo Nardi, Axel Methner, Michael J. Schmeisser
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impairments in social interaction and repetitive behaviors, with mitochondrial dysfunction considered as an important underlying pathogenic factor. However, the pathophysiology of ASD is still not fully understood, with mutations in synaptic genes also playing a role in the disorder. Mitochondria play diverse functions at the synapse, beyond their classical role as energy providers.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2021)
Review
Multidisciplinary Sciences
Antonino Errante, Leonardo Fogassi
Summary: This review examines studies on the lateralization of cortical parietal and premotor areas in monkeys and humans, particularly focusing on the mirror neuron system (MNS) and its functional properties. The research indicates that action perception and execution may lead to unilateral or bilateral brain activation, with plastic changes in the MNS following specific brain damage.
Review
Psychiatry
J. Vaquerizo-Serrano, G. Salazar De Pablo, J. Singh, P. Santosh
Summary: Catatonic features can appear in individuals with autism spectrum disorders (ASDs), affecting around 10.4% of ASD patients, commonly males. Treatment options include benzodiazepines, antipsychotics, and electroconvulsive therapy (ECT) with promising results in managing catatonic symptoms. Longitudinal studies are needed to further understand the relationship between catatonia and ASD.
EUROPEAN PSYCHIATRY
(2021)
Article
Education & Educational Research
Mojtaba Shahab, Alireza Taheri, Mohammad Mokhtari, Azadeh Shariati, Rozita Heidari, Ali Meghdari, Minoo Alemi
Summary: Virtual Reality (VR) technology is being utilized in music education programs for children with autism to improve their social skills. Intervention sessions were conducted over 20 weeks, teaching music notes and pieces using virtual reality robots and instruments. While psychological tests showed slight cognitive improvements, statistical analysis of the children's performance data during the sessions confirmed the effectiveness of the proposed method.
EDUCATION AND INFORMATION TECHNOLOGIES
(2022)
Article
Psychology, Developmental
Clare S. Allely, Emma Woodhouse, Raja A. S. Mukherjee
Summary: Although the common factors between autism spectrum disorder (ASD) and personality disorders (PDs) are recognized, the relationship between ASD and PDs is still unclear. Overlapping symptoms of ASD and PDs can lead to diagnostic uncertainty and misdiagnosis of ASD patients. It is argued that there is a need for better understanding and markers to facilitate diagnostic procedures. Exploring how clinicians make diagnostic decisions and addressing the challenges they face in decision-making is urgently needed.
Article
Biochemistry & Molecular Biology
Paulina Gatarek, Joanna Kaluzna-Czaplinska
Summary: Autism Spectrum Disorders (ASD) are associated with metabolic and nutritional abnormalities. Supplementation was found to affect the levels of HVA and VMA, and potentially influence the behavior of children with ASD. Further research on the effects of supplementation on these metabolites and their impact on ASD children's levels, behavior, and physical symptoms is needed.
Article
Psychiatry
Hassan Shahrokhi, Akbar Ghiasi, Kamal Gholipour, Leila Mehdizadeh Fanid, Hamid Reza Shamekhi, Shabnam Iezadi
Summary: The study revealed different viewpoints between parents and professionals regarding the implementation of ASD universal screening program in Iran. Professionals believed there is not enough rationale to implement ASD screening for all children, while parents considered universal screening as inevitable and suggested it should be implemented in primary health centers during early child-care visits. This study's results provide insights that could aid in initiating the screening program not only in Iran but also in other low- and middle-income countries.
Article
Psychology, Multidisciplinary
Julio Plata-Bello, Nicole Privato, Cristian Modrono, Yaiza Perez-Martin, Africa Borges, Jose Luis Gonzalez-Mora, Tim Hodgson
Summary: The aim of this study was to analyze the brain activity patterns during the observation of painful expressions and establish the relationship between this activity and the scores obtained on the Interpersonal Reactivity Index (IRI). Observing painful expressions led to increased activity in specific regions of the frontal, temporal, and parietal lobes. The regression analysis demonstrated a positive correlation between brain activity during the observation of pain and empathic concern scores on the IRI.
BEHAVIORAL SCIENCES
(2023)
Review
Clinical Neurology
Catherine A. Ziats, Wesley G. Patterson, Michael Friez
Summary: Autism spectrum disorder is a neurodevelopmental disorder characterized by deficits in communication, stereotyped behaviors, restricted interests, and impaired social skills. Research on syndromic autism provides insight into the phenotypic and molecular heterogeneity of neurodevelopmental disease, which can be helpful in understanding disease mechanisms implicated in nonsyndromic autism.
PEDIATRIC NEUROLOGY
(2021)
Letter
Psychology, Developmental
Michal Icht, Gil Zukerman, Esther Ben-Itzchak, Boaz M. Ben-David
Summary: This study expands on previous research, revealing differences in the ability of individuals with autism spectrum disorder to process basic spoken emotions compared to complex subtle emotions. The study also explores the processing of emotions in video clips.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychology, Developmental
Kate Stephens, Rachel O'Loughlin, Jessica L. Green, Vicki Anderson, Nicole Rinehart, Jan M. Nicholson, Philip Hazell, Timothy J. Silk, Daryl Efron, Emma Sciberras
Summary: This study found that in children with ADHD, repetitive and stereotyped behaviors were associated with emotional and conduct problems, as well as poorer quality of life, while reciprocal social interaction deficits were associated with peer problems.
JOURNAL OF ATTENTION DISORDERS
(2021)
Article
Psychology, Developmental
K. McKenzie, A. Russell, D. Golm, G. Fairchild
Summary: The study found that individuals with ASD had deficits in tracking others' anger emotions, but did not significantly differ from typically-developing participants in cognitive empathy and affective empathy. Additionally, the ASD group showed lower levels of empathy and empathic concern in a self-report questionnaire.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Psychiatry
Hela Ben Youssef, Soumeyya Halayem, Malek Ghazzai, Selima Jelili, Hager Ben Mansour, Olfa Rajhi, Amal Taamallah, Selima Ennaifer, Malek Hajri, Zeineb Salma Abbes, Radhouane Fakhfakh, Ahmed Nabli, Asma Bouden
Summary: The study aimed to create and validate an empathy assessment questionnaire for school-aged Tunisian children. Through face validity, content validity, construct validity, and reliability study, a culturally adapted empathy scale for children was obtained, and the psychometric qualities were satisfactorily validated.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Neurosciences
Weihua Zhao, Qi Liu, Xiaolu Zhang, Xinwei Song, Zhao Zhang, Peng Qing, Xiaolong Liu, Siyu Zhu, Wenxu Yang, Keith M. Kendrick
Summary: The mirror neuron system (MNS), which includes the inferior frontal gyrus (IFG), inferior parietal lobule (IPL), and superior temporal sulcus (STS), is important for action representation and imitation, but may be dys-functional in autism spectrum disorder (ASD). In this study, the researchers conducted a facial expression imitation task with healthy male subjects and measured the expression intensity using facial emotion recognition software (FaceReader) and MNS responses using functional near-infrared spectroscopy (fNIRS). The results showed distinct patterns of MNS responses during imitation of different facial expressions, which were also associated with autistic traits.
Article
Clinical Neurology
Kelly G. Knupp, Ingrid E. Scheffer, Berten Ceulemans, Joseph Sullivan, Katherine C. Nickels, Lieven Lagae, Renzo Guerrini, Sameer M. Zuberi, Rima Nabbout, Kate Riney, Anupam Agarwal, Michael Lock, David Dai, Gail M. Farfel, Bradley S. Galer, Arnold R. Gammaitoni, Shikha Polega, Ronald Davis, Antonio Gil-Nagel
Summary: Long-term use of fenfluramine showed sustained reduction in drop seizure frequency in LGS patients, with significant reduction in the frequency of GTCS and tonic seizures. The drug was generally well tolerated with minimal adverse effects and no significant cardiac side effects observed. Fenfluramine may serve as an important long-term treatment option for patients with LGS.
Article
Biochemistry & Molecular Biology
Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J. Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K. Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold, Shaun Ziegenfusz, Mark F. Bennett, Erandee Robertson, Longfei Wang, Amber Boys, Simon E. Fisher, David J. Amor, Ingrid E. Scheffer, Melanie Bahlo, Angela T. Morgan
Summary: This study identified new candidate genes associated with childhood apraxia of speech (CAS) through genome sequencing and bioinformatic analysis. The findings highlight the roles of chromatin organization and gene regulation in CAS, and confirm co-expression of CAS-related genes during brain development.
MOLECULAR PSYCHIATRY
(2023)
Article
Clinical Neurology
Katherine B. Howell, Sophie Butcher, Amy L. Schneider, Sophie Russ-Hall, Pearl R. Muzariri, Rachel Kerr, Isabella Overmars, Michael Hayman, Andrew J. Kornberg, Margie Danchin, Nigel W. Crawford, Ingrid E. Scheffer
Summary: The aim of this study was to determine the frequency and spectrum of complications of influenza infection in individuals with SCN1A-positive Dravet syndrome. The results showed that out of 82 individuals with SCN1A-DS, 24 had confirmed cases of influenza infection, with 75% of them presenting with seizures as the initial symptom. One patient died from influenza pneumonia, and four cases experienced long-term neurological sequelae after the infection.
Editorial Material
Clinical Neurology
Rohit R. Das, Adeline L. Goss, Ingrid E. Scheffer
ANNALS OF NEUROLOGY
(2023)
Article
Behavioral Sciences
Kim I. Bishop, Peter K. Isquith, Gerard A. Gioia, Kelly G. Knupp, Ingrid E. Scheffer, Rima Nabbout, Nicola Specchio, Joseph Sullivan, Stephane Auvin, J. Helen Cross, Renzo Guerrini, Gail Farfel, Bradley S. Galer, Arnold R. Gammaitoni
Summary: This study aimed to evaluate the association between fenfluramine (FFA) and improvement in everyday executive function (EF) in preschool-aged children with Dravet syndrome (DS). The results showed that the FFA treatment group demonstrated reliable and clinically meaningful improvement in self-control, flexibility, metacognition, and overall executive function. Among the FFA treatment groups, the 0.7 mg/kg/day dosage group showed the most significant improvement.
EPILEPSY & BEHAVIOR
(2023)
Article
Biochemistry & Molecular Biology
David I. Francis, Zornitza Stark, Ingrid E. Scheffer, Tiong Yang Tan, Krithika Murali, Lyndon Gallacher, David J. Amor, Himanshu Goel, Lilian Downie, Chloe A. Stutterd, Emma I. Krzesinski, Anand Vasudevan, Ralph Oertel, Vida Petrovic, Amber Boys, Vivian Wei, Trent Burgess, Karen Dun, Karen L. Oliver, Anne Baxter, Anna Hackett, Samantha Ayres, Sebastian Lunke, Paul Kalitsis, Meaghan Wall
Summary: This study aimed to compare the diagnostic yield of saliva and blood for pathogenic copy number variants (CNVs). The results showed that saliva microarray testing had increased diagnostic utility over blood testing in individuals with syndromic intellectual disability (ID). Mosaic pathogenic CNVs or aneuploidy were detected in saliva but not in blood.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L. Gaff, Ilias Goranitis, Amanda B. Spurdle, David P. Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J. Newson, Hamish S. Scott, Natalie Thorne, Robyn L. Ward, Marcel E. Dinger, Stephanie Best, Janet C. Long, Sean M. Grimmond, John Pearson, Nicola Waddell, Christopher P. Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B. Fox, Jozef Gecz, Adam Jaffe, Richard J. Leventer, Paul J. Lockhart, Sebastian Lunke, Andrew J. Mallett, Julie McGaughran, Linda Mileshkin, Katia Nones, Tony Roscioli, Ingrid E. Scheffer, Christopher Semsarian, Cas Simons, David M. Thomas, David R. Thorburn, Richard Tothill, Deborah White, Sally Dunwoodie, Peter T. Simpson, Peta Phillips, Marie-Jo Brion, Keri Finlay, Michael CJ. Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Sean Murray, Kathy Wells, John Cannings, Andrew H. Sinclair, John Christodoulou, Kathryn N. North
Summary: Australian Genomics is a national collaborative partnership that aims to integrate genomics into healthcare through a whole-of-system approach. It has evaluated genomic testing outcomes in over 5,200 individuals across rare disease and cancer studies and provided evidence-based changes in policy and practice, resulting in government funding and access to genomic tests. It has also developed national skills, infrastructure, policy, and data resources to support data sharing and improve clinical genomic delivery.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Helena Martins Custodio, Lisa M. Clayton, Ravishankara Bellampalli, Susanna Pagni, Katri Silvennoinen, Richard Caswell, John C. Ambrose, Andreas Brunklaus, Renzo Guerrini, Bobby P. C. Koeleman, Johannes R. Lemke, Rikke S. Moler, Ingrid E. Scheffer, Sarah Weckhuysen, Federico Zara, Sameer Zuberi, Karoline Kuchenbaecker, Simona Balestrini, James D. Mills, Sanjay M. Sisodiya
Summary: Dravet syndrome, a rare severe epilepsy caused by SCN1A variants, shows phenotypic heterogeneity that cannot be fully explained by the causal variant or clinical factors. In this study, additional genomic variation and rare variants in epilepsy-related genes were found to contribute to the phenotypic diversity of adults with SCN1A-related Dravet syndrome. The study also revealed differences in polygenic risk scores for intelligence and longevity between Dravet syndrome and epilepsy controls, suggesting that genetic background plays a role in the syndrome's phenotype and mortality risk.
Article
Clinical Neurology
Alice M. Donnan, Amy L. Schneider, Sophie Russ-Hall, Leonid Churilov, Ingrid E. Scheffer
Summary: This study aims to describe the proportions of patients with commonly encountered genetic developmental and epileptic encephalopathies (DEEs) who developed convulsive status epilepticus (CSE), nonconvulsive status epilepticus (NCSE), and sudden unexplained death in epilepsy (SUDEP). The findings showed that the proportions of these serious presentations vary for different genetic DEEs. These results have important implications for early diagnosis, management, and disease-specific counseling for this high-risk group of conditions.
Article
Genetics & Heredity
Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson
Summary: By evaluating 122 individuals in a patient registry, we have refined the clinical spectrum of FOXG1 syndrome and expanded genotype-phenotype correlations. Core features of the syndrome include delayed or absent developmental milestones, seizures, and movement disorders. Missense variants are associated with milder clinical courses and better developmental outcomes compared to gene deletions and nonsense variants, which are associated with more severe phenotypes and higher seizure burden.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Cardiac & Cardiovascular Systems
Elizabeth D. Paratz, Ingrid E. Scheffer, Christopher Semsarian
Summary: This review examines the significance of seizures in young athletes and the complex inter-relationship between seizures, epilepsy, and sudden cardiac death. Recent findings suggest that epilepsy may be associated with sudden unexplained cardiac death, with some patients experiencing a cardiocerebral channelopathy. It is important to consider the possibility of misdiagnosis of cardiac syncope in athletes with a history of seizures, requiring careful cardiac evaluation and risk stratification. Further investigation is needed to fully understand the association between seizures and young sudden cardiac death.
CURRENT TREATMENT OPTIONS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Clinical Neurology
Rebekah V. Harris, Karen L. Oliver, Piero Perucca, Pasquale Striano, Angelo Labate, Antonella Riva, Bronwyn E. Grinton, Joshua Reid, Jessica Hutton, Marian Todaro, Terence J. O'Brien, Patrick Kwan, Lynette G. Sadleir, Saul A. Mullen, Emanuela Dazzo, Douglas E. Crompton, Ingrid E. Scheffer, Melanie Bahlo, Carlo Nobile, Antonio Gambardella, Samuel F. Berkovic
Summary: This study analyzed 134 families with familial mesial temporal lobe epilepsy (FMTLE) and found that FMTLE is a generally mild drug-responsive syndrome with the main symptom being déjà vu. Unlike monogenic focal epilepsy syndromes, molecular data supports a polygenic basis for FMTLE. The polygenic risk score (PRS) data suggests that sub-genome-wide significant focal epilepsy genome-wide association study single nucleotide polymorphisms are important risk variants for FMTLE.
ANNALS OF NEUROLOGY
(2023)
Article
Clinical Neurology
Sterre Van der Veen, Gabrielle T. W. Tse, Alessandro Ferretti, Giacomo Garone, Bart Post, Nicola Specchio, Victor S. C. Fung, Marina Trivisano, Ingrid E. Scheffer
Summary: In patients with genetic DEEs, a variety of MDs are present, with stereotypies and dystonia being the most common. Different biological mechanisms may lead to different types of MDs.
Editorial Material
Clinical Neurology
Zimeng Ye, Sufang Lin, Xia Zhao, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Jing Duan, Yi Yao, Lin Li, Li Chen, Dezhi Cao, Zhanqi Hu, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
PEDIATRIC NEUROLOGY
(2024)
Article
Cell & Tissue Engineering
D. A. Ovchinnikov, S. Jong, C. Cuddy, I. E. Scheffer, S. Maljevic, S. Petrou
Summary: We generated an iPSC cell line from the fibroblasts of a girl with early infantile DEE carrying a gain-of-function mutation in Nav1.2 protein. The established iPSC line exhibited typical characteristics of human pluripotent stem cells and can be used to develop stem cell-based DEE models, contributing to the understanding and potential therapy development for this debilitating condition.
STEM CELL RESEARCH
(2023)
