Article
Medicine, General & Internal
Noor B. Almandil, Maram Adnan Alismail, Hind Saleh Alsuwat, Abdulla AlSulaiman, Sayed AbdulAzeez, J. Francis Borgio
Summary: This study identified the significant genes and single nucleotide polymorphisms (SNPs) associated with increased risk of autism spectrum disorder (ASD) in Saudi females. The findings provide insight for early diagnosis of ASD.
FRONTIERS IN MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Thanit Saeliw, Songphon Kanlayaprasit, Surangrat Thongkorn, Kwanjira Songsritaya, Bumpenporn Sanannam, Chanachai Sae-Lee, Depicha Jindatip, Valerie W. Hu, Tewarit Sarachana
Summary: This study characterized the expression and sequence characteristics of transposable elements, specifically Alu elements, in the prefrontal cortex tissues of individuals with autism spectrum disorder (ASD). The study found that the differential expression of Alu elements was associated with ASD-related genes and cellular processes. Additionally, significant hypomethylation of Alu elements was observed in ASD subphenotypes, suggesting potential epigenetic involvement. These findings provide insights into the role of Alu elements in gene regulation and molecular neuropathology in ASD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Medicine, General & Internal
Tao Wang, Tingting Zhao, Liqiu Liu, Huajing Teng, Tianda Fan, Yi Li, Yan Wang, Jinchen Li, Kun Xia, Zhongsheng Sun
Summary: The study found that rare genetic variations in OTRGs are significantly associated with ASD etiology, with dnCNVs > ihCNVs > DNMs. 172 OTRGs and their connected 286 ASD core genes were prioritized to positively contribute to ASD etiology, including top-ranked MAPK3. Probands carrying rare disruptive variations in these genes are estimated to account for 10-11% of all ASD probands.
Review
Psychiatry
Courtney Mallory, Brandon Keehn
Summary: The impact of classroom environments on students with ASD is significant due to their challenges in sensory processing and attention. Understanding these weaknesses can lead to better support and interventions for optimal student success.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Neurosciences
Judith Goris, Senne Braem, Shauni Van Herck, Jonas Simoens, Eliane Deschrijver, Jan R. Wiersema, Bryan Paton, Marcel Brass, Juanita Todd
Summary: Findings suggest that individuals with autism exhibit faster model updating during early sensory processing, resulting in less influence from the initial context.
JOURNAL OF NEUROSCIENCE
(2022)
Article
Neurosciences
Ting Mei, Natalie J. Forde, Dorothea L. Floris, Flavio Dell'Acqua, Richard Stones, Iva Ilioska, Sarah Durston, Carolin Moessnang, Tobias Banaschewski, Rosemary J. Holt, Simon Baron-Cohen, Annika Rausch, Eva Loth, Bethany Oakley, Tony Charman, Christine Ecker, Declan G. M. Murphy, Christian F. Beckmann, Alberto Llera, Jan K. Buitelaar
Summary: The study utilized integrated analysis of GM and WM alterations to demonstrate brain mechanisms underlying autism, showing that certain brain patterns were significantly associated with autism symptoms.
BIOLOGICAL PSYCHIATRY-COGNITIVE NEUROSCIENCE AND NEUROIMAGING
(2023)
Article
Biotechnology & Applied Microbiology
Yihui Zhu, J. Antonio Gomez, Benjamin Laufer, Charles E. Mordaunt, Julia S. Mouat, Daniela C. Soto, Megan Y. Dennis, Kelly S. Benke, Kelly M. Bakulski, John Dou, Ria Marathe, Julia M. Jianu, Logan A. Williams, Orangel J. Gutierrez Fugon, Cheryl K. Walker, Sally Ozonoff, Jason Daniels, Luke P. Grosvenor, Heather E. Volk, Jason Feinberg, M. Daniele Fallin, Irva Hertz-Picciotto, Rebecca J. Schmidt, Dag H. Yasui, Janine M. LaSalle
Summary: This study identified a novel ASD risk gene, NHIP, through whole genome bisulfite sequencing in placenta samples. NHIP is highly expressed in the brain and overlaps significantly with known ASD risk genes and NHIP-associated genes in the ASD brain. Additionally, a common structural variant associated with ASD risk, NHIP expression, and methylation levels was found.
Article
Neurosciences
Kelly M. Bakulski, John F. Dou, Jason I. Feinberg, Max T. Aung, Christine Ladd-Acosta, Heather E. Volk, Craig J. Newschaffer, Lisa A. Croen, Irva Hertz-Picciotto, Susan E. Levy, Rebecca Landa, Andrew P. Feinberg, Margaret D. Fallin
Summary: DNA methylation sites associated with later ASD diagnosis in multiple tissues were enriched for ASD risk genes. Examining DNA methylation prior to ASD diagnosis may be useful in understanding ASD development.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2021)
Article
Psychiatry
Melek Hajri, Zeineb Abbes, Houda Ben Yahia, Selima Jelili, Soumeyya Halayem, Ali Mrabet, Asma Bouden
Summary: Autism spectrum disorder is associated with neurocognitive impairment, and cognitive remediation is a behavioral training-based intervention aiming to improve cognitive processes. Studies have shown that integrated cognitive remediation programs can effectively improve cognitive domains and functional outcomes in individuals with autism spectrum disorder.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Neurosciences
Sanjana Kalvakuntla, MinJae Lee, Wendy K. K. Chung, Scott Demarest, Amber Freed, Kyle J. J. Horning, Terry Jo Bichell, Susan T. T. Iannaccone, Kimberly Goodspeed
Summary: SLC6A1-related disorder is a genetic neurodevelopmental disorder characterized by loss of skills previously mastered in developmental domains. Understanding the patterns of developmental regression and associated clinical characteristics in this disorder is crucial for medical management and future clinical trials.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Behavioral Sciences
Xinyan Xie, Li Li, Hao Wu, Fang Hou, Yanlin Chen, Qi Xue, Yu Zhou, Jiajia Zhang, Jianhua Gong, Ranran Song
Summary: The study utilized a convergent functional genomics approach to identify three candidate causal genes of ASD, with the TIGD5 gene showing association with ASD risk through a specific SNP (rs75547282). Genotyping experiments revealed an increased risk of ASD associated with TIGD5 rs75547282 under the dominant model, but with limited statistical power (5.2%).
Review
Psychology, Multidisciplinary
Marilzete Fernandes Ribeiro, Jorgiana Bau Mena Barreto, Valeria Sousa-Gomes
Summary: Early intervention in autism has become possible, but the scientific research on this subject is still limited. A study in Brazil aimed to characterize scientific production regarding early intervention in Autism Spectrum Disorder (ASD). The study found a low percentage of publications related to this topic, although an increase in studies has been observed in recent years. The findings suggest that early intervention can be effective in developing communication and social interaction skills in children with autism.
EUROPEAN PSYCHOLOGIST
(2022)
Article
Multidisciplinary Sciences
Masud Rabbani, Munirul M. Haque, Dipranjan Das Dipal, Md Ishrak Islam Zarif, Anik Iqbal, Amy Schwichtenberg, Naveen Bansal, Tanjir Rashid Soron, Syed Ishtiaque Ahmed, Sheikh Iqbal Ahamed
Summary: This study aimed to evaluate the behavioral patterns of children with ASD during and after the COVID-19 lockdown, and found that support in the areas of problematic behavior could mitigate future risks.
SCIENTIFIC REPORTS
(2021)
Article
Neurosciences
Yanfang Li, Liping Ma, Yanan Deng, Ziwei Du, Bingqian Guo, Jianing Yue, Xianxian Liu, Yinghua Zhang
Summary: This study investigated the association between DNA methyltransferases and the Notch pathway in autism spectrum disorder (ASD). The results showed that abnormal activation of the Notch pathway may affect the expression of DNMT3A and DNMT3B, subsequently influencing autophagy. Furthermore, the findings suggested that the Notch1/Hes1 pathway regulates the expression of DNMT3A and DNMT3B, and affects autophagy in the development of ASD, providing new insights into the pathogenesis of ASD.
Article
Psychiatry
Troy Q. Boucher, Julia N. Lukacs, Nichole E. Scheerer, Grace Iarocci
Summary: Based on brief videos, this study found that non-autistic adults rated autistic children less favorably than non-autistic children in terms of first impressions, with audio playing a significant role. The rater's own characteristics such as social competence, autism stigma, and past experiences with autistic people were found to be related to the bias against autistic children. These negative judgments may contribute to the social exclusion experienced by autistic children.
FRONTIERS IN PSYCHIATRY
(2023)
Article
Psychology, Developmental
Hannah Waddington, Ella Macaskill, Andrew J. O. Whitehouse, Wesley Billingham, Gail A. Alvares
Summary: This study found that parent-reported atypical development in a child's first year is associated with age of diagnosis and age when parents first consulted a specialist. Atypical development in most domains is linked to an earlier age when specialist consultation is needed.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychology, Developmental
Willow J. Sainsbury, Kelly Carrasco, Andrew J. O. Whitehouse, Hannah Waddington
Summary: Autism and attention-deficit/hyperactivity disorder (ADHD) often occur together. This study found that children with both autism and ADHD were diagnosed with ADHD earlier and autism later. Parents of children with both disorders reported less atypical development in language and social behaviors, experienced longer wait times for diagnosis, and saw more types of specialists before getting a diagnosis compared to parents of children with just autism.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Correction
Psychology, Developmental
Willow J. Sainsbury, Kelly Carrasco, Andrew J. O. Whitehouse, Hannah Waddington
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychology, Developmental
Anna Jackson, Glenn A. Melvin, Melissa Mulraney, Stephen P. Becker, Mark A. Bellgrove, Jon Quach, Delyse Hutchinson, Elizabeth M. Westrupp, Alicia Montgomery, Emma Sciberras
Summary: This study investigated home learning difficulties in Australian children with ADHD during COVID-19 restrictions, and found that anxiety symptoms and inattention symptoms were associated with learning difficulties. The results support the need to continue pre-pandemic supports to assist with ADHD symptoms.
CHILD PSYCHIATRY & HUMAN DEVELOPMENT
(2023)
Article
Dentistry, Oral Surgery & Medicine
Gail A. Alvares, Kareen Mekertichian, Felicity Rose, Sally Vidler, Andrew J. O. Whitehouse
Summary: This study investigated the oral health and dental service needs of children diagnosed with autism and explored the relationship with clinical phenotypes. The results showed that one third of parents reported poorer oral health in their child compared to other children the same age, with 26% reporting untreated dental problems. A third of children had undergone general anesthesia for dental procedures. Children who had undergone general anesthesia were more likely to have intellectual disability and greater functional difficulties. Parents of children with greater functional limitations and sensory challenges reported experiencing barriers to accessing dental care more frequently.
SPECIAL CARE IN DENTISTRY
(2023)
Article
Biochemistry & Molecular Biology
Yvonne Joho, Vanessa Vongsouthi, Matthew A. Spence, Jennifer Ton, Chloe Gomez, Li Lynn Tan, Joe A. Kaczmarski, Alessandro T. Caputo, Santana Royan, Colin J. Jackson, Albert Ardevol
Summary: Biocatalytic PET depolymerization is a sustainable and low-energy solution for PET recycling. This study applies ancestral protein reconstruction and protein repair one-stop shop to improve enzyme activity and stability, providing new insights into PETase activity evolution and the role of second-shell mutations around the active site.
Article
Cell & Tissue Engineering
Marie Sebert, Stephanie Gachet, Thierry Leblanc, Alix Rousseau, Olivier Bluteau, Rathana Kim, Raouf Ben Abdelali, Flore Sicre de Fontbrune, Loic Maillard, Carele Fedronie, Valentine Murigneux, Lea Bellenger, Naira Naouar, Samuel Quentin, Lucie Hernandez, Nadia Vasquez, Melanie Da Costa, Pedro H. Prata, Lise Larcher, Marie de Tersant, Matthieu Duchman, Anna Raimbault, Franck Trimoreau, Odile Fenneteau, Wendy Cuccuini, Nathalie Gachard, Nathalie Auger, Giulia Tueur, Maud Blanluet, Claude Gazin, Michele Souyri, Francina Langa Vives, Aaron Mendez-Bermudez, Helene Lapillonne, Etienne Lengline, Emmanuel Raffoux, Pierre Fenaux, Lionel Ades, Edouard Forcade, Charlotte Jubert, Carine Domenech, Marion Strullu, Benedicte Bruno, Nimrod Buchbinder, Caroline Thomas, Arnaud Petit, Guy Leverger, Gerard Michel, Marina Cavazzana, Eliane Gluckman, Yves Bertrand, Nicolas Boissel, Andre Baruchel, Jean-Hugues Dalle, Emmanuelle Clappier, Eric Gilson, Ludovic Deriano, Sylvie Chevret, Francois Sigaux, Gerard Socie, Dominique Stoppa-Lyonnet, Hugues de The, Christophe Antoniewski, Dominique Bluteau, Regis Peffault de Latour, Jean Soulier
Summary: Fanconi anemia (FA) patients with chromosome instability are prone to develop poor-prognosis myeloid leukemia. A longitudinal cohort study revealed a unique pattern of somatic structural variants and mutations in 62 patients with clonal evolution. The key driver of secondary leukemogenesis was identified as the early downregulation of basal p53 activation by MDM4, providing potential monitoring and therapeutic strategies.
Article
Biochemistry & Molecular Biology
Suk Woo Kang, James Antoney, David W. Lupton, Robert Speight, Colin Scott, Colin J. Jackson
Summary: Asymmetric reduction by ene-reductases has been extensively studied, with the Old Yellow Enzyme (OYE) family being the most researched. However, the limited substrate range and stereocomplementary pairs of current ene-reductases necessitate the development of a complementary class. Flavin/deazaflavin oxidoreductases (FDORs) that use F-420 as a cofactor have gained attention due to their stereocomplementarity with OYEs. In this study, the activity of eight FDOR-B enzymes was investigated, comparing their specific activity, kinetic properties, and stereoselectivity with FDOR-A enzymes and OYE family.
Article
Psychiatry
Tracey Chau, Jeggan Tiego, Louise Brown, David Coghill, Laura Jobson, Alicia Montgomery, Cammi Murrup-Stewart, Emma Sciberras, Tim J. Silk, Megan Spencer-Smith, Nicole Stefanac, Daniel P. Sullivan, Mark A. Bellgrove
Summary: This paper examines the structural validity of the Strengths and Difficulties Questionnaire in Aboriginal and Torres Strait Islander communities. The results show that the internal consistency of the questionnaire is higher for teachers than for parents. The purported five-factor structure of the questionnaire did not hold true for both parent- and teacher-reported versions, indicating that it is not a valid measure for emotional and behavioural problems in this population.
AUSTRALIAN AND NEW ZEALAND JOURNAL OF PSYCHIATRY
(2023)
Article
Pediatrics
Alicia Montgomery, Anne Masi, Andrew Whitehouse, Jeremy Veenstra-VanderWeele, Lauren Shuffrey, Mark D. Shen, Lisa Karlov, Mirko Uljarevic, Gail Alvares, Sue Woolfenden, Natalie Silove, Valsamma Eapen
Summary: This study used data from the Australian Autism Biobank (AAB) to subgroup children on the autism spectrum based on their behavioral, cognitive, medical, and psychiatric profiles. Four subgroups with different characteristics and comorbidities were identified. These findings have implications for assessing and providing comprehensive support for children on the autism spectrum.
CHILD AND ADOLESCENT PSYCHIATRY AND MENTAL HEALTH
(2023)
Article
Multidisciplinary Sciences
Ho Yi Wong, Ruby C. Lee, Sharene Chong, Stuti Kapadia, Michael Freeman, Valentine Murigneux, Susan Brown, H. Peter Soyer, Edwige Roy, Kiarash Khosrotehrani
Summary: This study suggests that mutation burden is strongly associated with the burden of keratinocyte skin cancers (KCs) such as basal and squamous cell carcinomas. Accumulation of mutations and clonal expansion play a key role in the development of KCs. UV radiation, the main carcinogen for KCs, is linked to epidermal mutation load. Epidermal ablation, followed by spontaneous healing, can reduce mutation load and prevent subsequent KCs.
Article
Medicine, General & Internal
Leonie Segal, Jonathan Green, Asterie Twizeyemariya, Kristelle Hudry, Ming Wai Wan, Josephine Barbaro, Teresa Iacono, Kandice J. Varcin, Sarah Pillar, Matthew N. Cooper, Wesley Billingham, Gemma Upson, Andrew J. O. Whitehouse
Summary: This study estimated the economic cost impact of the iBASIS-VIPP intervention on the Australian government and found that it could save healthcare costs. Compared with usual care, the iBASIS-VIPP intervention reduced disability support costs for children diagnosed with ASD at the age of 3. The findings suggest that iBASIS-VIPP represents a valuable societal investment for supporting neurodivergent children.
Article
Psychology, Educational
Filippo Abbondanza, Philip S. Dale, Carol A. Wang, Marianna E. Hayiou-Thomas, Umar Toseeb, Tanner S. Koomar, Karen G. Wigg, Yu Feng, Kaitlyn M. Price, Elizabeth N. Kerr, Sharon L. Guger, Maureen W. Lovett, Lisa J. Strug, Elsje van Bergen, Conor V. Dolan, J. Bruce Tomblin, Kristina Moll, Gerd Schulte-Koerne, Nina Neuhoff, Andreas Warnke, Simon E. Fisher, Cathy L. Barr, Jacob J. Michaelson, Dorret I. Boomsma, Margaret J. Snowling, Charles Hulme, Andrew J. O. Whitehouse, Craig E. Pennell, Dianne F. Newbury, John Stein, Joel B. Talcott, Dorothy V. M. Bishop, Silvia Paracchini
Summary: The association between handedness and language-related disorders has been extensively studied. However, the inconsistent findings may be attributed to factors such as small sample sizes, publication bias, and variation in study criteria. This study examined the frequency of non-right-handedness (NRH) in individuals with reading and/or language impairment and found a higher prevalence compared to controls. Meta-analysis results further supported the association between NRH and language/reading impairments, suggesting shared underlying pathways between brain lateralization, handedness, and cognitive functions.
Article
Psychology, Social
Jack D. Brett, Rodrigo Becerra, Andrew Whitehouse, David A. Preece, Murray T. Maybery
Summary: Individuals with pronounced autistic traits struggle with cognitive empathy and may show different levels of affective empathy for positive and negative emotions. Alexithymia and emotion dysregulation help explain these differences, while gender plays a moderating role.
PERSONALITY AND INDIVIDUAL DIFFERENCES
(2024)
Article
Neurosciences
Ashlea Segal, Linden Parkes, Kevin Aquino, Seyed Mostafa Kia, Thomas Wolfers, Barbara Franke, Martine Hoogman, Christian F. Beckmann, Lars T. Westlye, Ole A. Andreassen, Andrew Zalesky, Ben J. Harrison, Christopher G. Davey, Carles Soriano-Mas, Narcis Cardoner, Jeggan Tiego, Murat Yucel, Leah Braganza, Chao Suo, Michael Berk, Sue Cotton, Mark A. Bellgrove, Andre F. Marquand, Alex Fornito
Summary: Traditional case-control research often ignores the substantial individual heterogeneity among people with mental illness. This study provides a comprehensive, multiscale characterization of gray matter volume differences in six mental disorders. The results show that individual deviations in regional gray matter volume are highly heterogeneous, but some of these deviations are embedded within common functional circuits and networks.
NATURE NEUROSCIENCE
(2023)