Article
Psychology, Multidisciplinary
Mirko Uljarevic, Nicholas T. Bott, Robin A. Libove, Jennifer M. Phillips, Karen J. Parker, Antonio Y. Hardan
Summary: Emotion recognition skills and understanding of others' mental states are crucial for social functioning. Autistic children show poorer performance in emotion recognition and theory of mind compared to typically developing children, while unaffected siblings do not differ significantly from typically developing children in these abilities.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Behavioral Sciences
Emmanuel Peng Kiat Pua, Tarishi Desai, Cherie Green, Krysta Trevis, Natasha Brown, Martin Delatycki, Ingrid Scheffer, Sarah Wilson
Summary: Relatives of individuals with autism spectrum disorder may display milder social traits known as the broader autism phenotype, indicating potential genetic risk for ASD. This study found an inherited pattern of graded difficulties in social cognition in families with ASD and the BAP, with atypical faux pas detection being a potential endophenotype for ASD. Objective measures of social skills can help identify genetic risk for ASD and facilitate research on the genetic causes of ASD in this population.
Review
Psychology, Multidisciplinary
Paula J. Webster, Shuo Wang, Xin Li
Summary: Autism spectrum disorder (ASD) is characterized by different social interaction styles, including difficulties in facial emotion recognition and expression. This review highlights the importance of studying both subtle emotion recognition and emotion expression in individuals with ASD to bridge the gap between intervention and research. Proposed teaching methods for FER include using posed vs. genuine emotions and static vs. dynamic stimuli to improve generalizability and learning progressions.
FRONTIERS IN PSYCHOLOGY
(2021)
Article
Psychology, Developmental
Elizabeth A. DeLucia, Madeline P. McKenna, Theresa M. Andrzejewski, Kristin Valentino, Christina G. McDonnell
Summary: Limited information is available on the development of self-regulation processes during the preschool period in children with Autism Spectrum Disorder (ASD). Parental characteristics, such as the broader autism phenotype (BAP), play a role in children's self-regulation, with mothers' BAP traits impacting self-regulation outcomes differently across groups. Emotion regulation was found to be a protective factor against internalizing behavioral concerns in children with ASD. Parental factors should be taken into consideration in emotion regulation interventions for young children with ASD.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Psychology, Developmental
Gary L. Wagener, Madeleine Berning, Andreia P. Costa, Georges Steffgen, Andre Melzer
Summary: The study found that emotion congruent music can enhance facial emotion recognition in children with Autism Spectrum Disorder, potentially supporting their emotion recognition and improving their social skills.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Psychology, Multidisciplinary
Nicolas Dollion, Marine Grandgeorge, Dave Saint-Amour, Anthony Hosein Poitras Loewen, Nathe Francois, Nathalie M. G. Fontaine, Noel Champagne, Pierrich Plusquellec
Summary: Past research suggests that individuals with autism spectrum disorder (ASD) have difficulties in decoding facial expressions. However, this study found that children with ASD who owned a service dog exhibited more focused visual scanning strategies during facial expression processing. They directed less attention to irrelevant areas and displayed a more differentiated scanning of relevant facial features.
FRONTIERS IN PSYCHOLOGY
(2022)
Review
Behavioral Sciences
Michael K. Yeung
Summary: This review found facial emotion recognition impairment in autism spectrum disorder (ASD), and task characteristics have a certain impact on recognizing facial emotions.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2022)
Article
Biology
Diana Weiting Tan, Syed Zulqarnain Gilani, Gail A. Alvares, Ajmal Mian, Andrew J. O. Whitehouse, Murray T. Maybery
Summary: The broad autism phenotype refers to sub-clinical levels of autistic-like behavior and cognition in biological relatives of autistic people. A recent study found that increased facial masculinity may also be a feature of the broad autism phenotype. This study further investigated the presence of increased facial masculinity among non-autistic parents of autistic children and found that they had significantly higher masculinity scores and larger facial distances compared to a comparison group.
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2022)
Article
Behavioral Sciences
Qianqian Zhang, Renjing Wu, Siyu Zhu, Jiao Le, Yuanshu Chen, Chunmei Lan, Shuxia Yao, Weihua Zhao, Keith M. Kendrick
Summary: The study found that facial emotion training can significantly improve emotion recognition in individuals with ASD, but further research is needed to investigate the generalization and maintenance effects of the training, and there is currently no experimentally verified improvement in social skills.
Article
Psychology, Developmental
Ligia Antezana, Andrew Valdespino, Andrea T. Wieckowski, Marika C. Coffman, Corinne N. Carlton, Katelyn M. Garcia, Denis Gracanin, Susan W. White, John A. Richey
Summary: Using a new computerized task, this study examined the relationship between social anxiety symptoms and individual differences in facial emotion recognition (FER) among autistic male adolescents and young adults without intellectual disability. The results revealed that social anxiety and IQ were predictors of poorer FER, regardless of specific emotion types. Furthermore, social anxiety affected surprise and disgust FER during a truncated viewing condition but not in full viewing condition. Overall, these findings suggest that social anxiety may play a larger role in FER among individuals with autism than previously believed. Future research should consider the role of social anxiety in autism as a significant factor in FER assessment and intervention.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychology, Developmental
Connor T. Keating, Dagmar S. Fraser, Sophie Sowden, Jennifer L. Cook
Summary: The study found differences in emotion recognition between autistic and non-autistic individuals, with autistic participants showing lower accuracy for angry facial motion. Autistic traits were predictive of accuracy for angry facial motion, while alexithymic traits were predictive of the magnitude of emotion ratings.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Behavioral Sciences
Stephanie Van der Donck, Sofie Vettori, Milena Dzhelyova, Soha Sadat Mahdi, Peter Claes, Jean Steyaert, Bart Boets
Summary: Our study found that boys with ASD exhibit slightly less facial exploration behavior compared to boys without ASD when recognizing facial expressions, but they show similar performance in expression recognition and facial reactions.
Article
Neurosciences
Shadi Bagherzadeh-Azbari, Gilbert Ka Bo Lau, Guang Ouyang, Changsong Zhou, Andrea Hildebrandt, Werner Sommer, Ming Lui
Summary: According to the research findings, individuals with autism spectrum disorder (ASD) and those with high autistic traits have impaired sensitivity to gaze direction, especially in specific emotions. Multimodal investigations can help us understand the characteristics of these individuals.
FRONTIERS IN HUMAN NEUROSCIENCE
(2022)
Article
Clinical Neurology
Arthur Stefanski, Eduardo Perez-Palma, Tobias Bruenger, Ludovica Montanucci, Cornelius Gati, Chiara Kloeckner, Katrine M. Johannesen, Kimberly Goodspeed, Marie Macnee, Alexander T. Deng, Angel Aledo-Serrano, Artem Borovikov, Maina Kava, Arjan M. Bouman, M. J. Hajianpour, Deb K. Pal, Marc Engelen, Eveline E. O. Hagebeuk, Marwan Shinawi, Alexis R. Heidlebaugh, Kathryn Oetjens, Trevor L. Hoffman, Pasquale Striano, Amanda S. Freed, Line Futtrup, Thomas Balslev, Anna Abuli, Leslie Danvoye, Damien Lederer, Tugce Balci, Maryam Nabavi Nouri, Elizabeth Butler, Sarah Drewes, Kalene van Engelen, Katherine B. Howell, Jean Khoury, Patrick May, Marena Trinidad, Steven Froelich, Johannes R. Lemke, Jacob Tiller, Amber N. Freed, Jing-Qiong Kang, Arthur Wuster, Rikke S. Moller, Dennis Lal
Summary: Genetic variants in the SLC6A1 gene can cause a broad spectrum of phenotypic diseases by altering the protein function. Through the aggregation of genetic and clinical data, as well as functional data, the study found potential associations between variant positions on the GAT1 3D structure, variant pathogenicity, altered molecular function, and phenotype severity.
Article
Behavioral Sciences
Jie Xu, Linshu Zhou, Fang Liu, Chao Xue, Jun Jiang, Cunmei Jiang
Summary: The study found that individuals with autism spectrum disorder (ASD) exhibit preserved neural responses to violations of local emotion regularity at an early processing stage, but a lack of neural responses to violations of global emotion regularity at a later stage. These findings reveal that the processing of emotional regularity in the autistic brain is modulated by the timescale of sequential stimuli.
Article
Clinical Neurology
Ingrid E. Scheffer, Caitlin A. Bennett, Deepak Gill, Michelle G. de Silva, Kirsten Boggs, Justine Marum, Naomi Baker, Elizabeth E. Palmer, Katherine B. Howell
Summary: Exome sequencing has been demonstrated to have clinical utility in the management of patients with DEEs, providing molecular diagnosis, guiding treatment, and informing accurate prognosis and reproductive counseling. Ongoing analysis of genomic data is necessary to identify the cause in patients with unknown etiology. The routine implementation of genomic testing in the care of children with DEEs should be considered in clinical practice.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Haloom Rafehi, Cherie Green, Kiymet Bozaoglu, Greta Gillies, Martin B. Delatycki, Paul J. Lockhart, Ingrid E. Scheffer, Melanie Bahlo
Summary: This study identified a family with myotonic dystrophy type 2 caused by an expansion of a specific STR, which could be detected through screening of WGS datasets. The findings have implications for diagnosis and genetic counseling.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
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.
Editorial Material
Clinical Neurology
Rohit R. Das, Adeline L. Goss, Ingrid E. Scheffer
ANNALS OF NEUROLOGY
(2023)
Article
Clinical Neurology
Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer
Summary: This study analyzed the epileptology and imaging features of WWOX-DEE, and investigated genotype-phenotype correlations, particularly with regard to survival. The results showed that biallelic WWOX pathogenic variants cause an early infantile developmental and epileptic encephalopathy syndrome, with focal seizures and epileptic spasms being the most common seizure types. Patients with two null WWOX pathogenic variants have higher mortality risk.
Article
Clinical Neurology
Betul Baykan, Silvana Franceschetti, Laura Canafoglia, Gianpiero L. Cavalleri, Roberto Michelucci, Ingrid E. Scheffer
Summary: Familial adult myoclonic epilepsy (FAME) is a under-recognized disorder characterized by cortical myoclonus, generalized tonic-clonic seizures, and additional clinical symptoms, which vary depending on the FAME subtype. FAME is caused by pentanucleotide repeat expansions of intronic TTTCA/TTTTA in different genes.
Article
Biochemistry & Molecular Biology
Camille Engel, Stephanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan S. Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K. Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valerie Delague, Anne-Sophie Denomme-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gerard, Joseph G. Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L. Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormieres, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlene Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha S. Zaki, Federizo Zara, Gaetan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Farzad Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
Summary: BRAT1 biallelic variants are associated with two syndromes, one is a severe phenotype with rigidity and multifocal seizure, and the other is a milder phenotype with cerebellar atrophy. Genotype-phenotype correlations show that different variants are associated with different phenotypes, with nonsense and frameshift variants causing the severe phenotype, missense variants more likely associated with the milder phenotype, and splice variants showing variable phenotypes.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Ahmed N. Sahly, Myriam Srour, Daniela Buhas, Ingrid E. Scheffer, Kenneth A. Myers
Summary: Wiedemann-Steiner Syndrome (WSTS) is a rare chromatinopathy caused by pathogenic variants in KMT2A. Patients with WSTS can exhibit a broad spectrum of epilepsy phenotypes, with the majority presenting with a severe form of developmental and epileptic encephalopathy (DEE).
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2023)
Article
Neurosciences
Da Zhao, Paulo Pinares-Garcia, Chaseley E. McKenzie, Lauren E. Bleakley, Ian C. Forster, Vickie H. Y. Wong, Christine T. O. Nguyen, Ingrid E. Scheffer, Christopher A. Reid, Bang Bui
Summary: Pathogenic variants in HCN1 gene are associated with epilepsy syndromes. The Hcn1M294L mouse model shows seizure and behavioral phenotypes similar to patients. Mutated HCN1 channels in photoreceptors lead to reduced sensitivity to light and impaired processing of temporal information. This study highlights the importance of HCN1 channels in retinal function and the impact of HCN1 pathogenic variants on visual function.
JOURNAL OF NEUROSCIENCE
(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)
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
Genetics & Heredity
Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett
Summary: Aicardi Syndrome is a rare neurodevelopmental disorder characterized by agenesis of the corpus callosum, chorioretinal lacunae, and infantile epileptic spasms. Although extensive genetic and genomic investigations have been conducted, no X-linked cause has been found. This study identified unique de novo variants in different genes in 5 out of 10 females with Aicardi Syndrome, suggesting genetic heterogeneity and involvement of molecular pathways related to cortical development.
Article
Behavioral Sciences
Emmanuel Peng Kiat Pua, Tarishi Desai, Cherie Green, Krysta Trevis, Natasha Brown, Martin Delatycki, Ingrid Scheffer, Sarah Wilson
Summary: Relatives of individuals with autism spectrum disorder may display milder social traits known as the broader autism phenotype, indicating potential genetic risk for ASD. This study found an inherited pattern of graded difficulties in social cognition in families with ASD and the BAP, with atypical faux pas detection being a potential endophenotype for ASD. Objective measures of social skills can help identify genetic risk for ASD and facilitate research on the genetic causes of ASD in this population.
Article
Clinical Neurology
Angela T. Morgan, Thomas S. Scerri, Adam P. Vogel, Christopher A. Reid, Mara Quach, Victoria E. Jackson, Chaseley McKenzie, Emma L. Burrows, Mark F. Bennett, Samantha J. Turner, Sheena Reilly, Sarah E. Horton, Susan Block, Elaina Kefalianos, Carlos Frigerio-Domingues, Eduardo Sainz, Kristin A. Rigbye, Travis J. Featherby, Kay L. Richards, Andrew Kueh, Marco J. Herold, Mark A. Corbett, Jozef Gecz, Ingo Helbig, Daisy G. Y. Thompson-Lake, Frederique J. Liegeois, Robert J. Morell, Andrew Hung, Dennis Drayna, Ingrid E. Scheffer, David K. Wright, Melanie Bahlo, Michael S. Hildebrand
Summary: Stuttering is a common speech disorder that may be linked to genetic variants and alterations in brain networks. This study discovered a variant in the PPID gene that is associated with stuttering in a specific family, and successfully developed a mouse model to mimic the brain changes found in affected family members.
Meeting Abstract
Clinical Neurology
Kim Bishop, Peter Isquith, Kelly Knupp, Joseph Sullivan, Rima Nabbout, Antonio Gil-Nagel, Ingrid Scheffer, Stephane Auvin, J. Helen Cross, Renzo Guerrini, Robert Roth, Gerard Gioia, Amelie Lothe, Shikha Polega
