Review
Genetics & Heredity
Christine F. Stafford, Pedro A. Sanchez-Lara
Summary: Genetics play a key role in the development of autism spectrum disorder (ASD), and genetic testing can guide clinical management and medical interventions, making it important for all ASD patients to have access to genetic evaluation.
Article
Genetics & Heredity
Xiaoqing Wu, Ying Li, Na Lin, Linjuan Su, Xiaorui Xie, Bing Liang, Qingmei Shen, Meiying Cai, Danhua Guo, Hailong Huang, Liangpu Xu
Summary: This study evaluated the implications of pregnancies with polyhydramnios through CMA testing and routine karyotyping. The results showed an association between non-isolated polyhydramnios and chromosomal aberrations, while the significance of chromosomal abnormalities in isolated polyhydramnios was inconclusive.
BMC MEDICAL GENOMICS
(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
Medicine, General & Internal
Johan Isaksson, Vladislav Ruchkin, Therese Ljungstrom, Sven Bolte
Summary: In this case-control study of 393 twins in Sweden, lower birth weight in monozygotic twin pairs was associated with more symptoms of autism and ADHD, lower IQ ratings, and higher odds of diagnosis compared to their co-twin. These findings suggest that birth weight contributes to neurodevelopmental conditions when genetic factors are taken into account.
Review
Genetics & Heredity
Mengyu Lim, Alessandro Carollo, Dagmara Dimitriou, Gianluca Esposito
Summary: This study used document co-citation analysis to systematically review literature on ASD genetic research from 2018 to 2022 and identified 12 major clusters representing different sub-topics in the field.
Article
Psychology, Developmental
Janna Guilfoyle, Molly Winston, John Sideris, Gary E. Martin, Kritika Nayar, Lauren Bush, Tom Wassink, Molly Losh
Summary: This study investigated developmental academic profiles among clinically unaffected siblings of individuals with Autism Spectrum Disorder (ASD). The findings showed that siblings had lower performance in language-related skills, which was associated with subclinical ASD-related traits in themselves and their parents, as well as symptom severity in their sibling with ASD.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Psychiatry
Lijie Dong, Yijing Wang, Xiaomeng Wang, Tengfei Luo, Qiao Zhou, Guihu Zhao, Bin Li, Lu Xia, Kun Xia, Jinchen Li
Summary: This study investigated the individual and combined effects of polygenic risk, damaging de novo variants (DNVs), and sex on the risk and clinical presentation of autism spectrum disorder (ASD) in 2,591 ASD simplex families. The findings revealed that both polygenic risk and damaging DNVs contribute to an increased risk for ASD, with females exhibiting higher genetic burdens than males. They also found that the effects of polygenic risk and damaging DNVs on autism broad phenotypes were inconsistent, and that females exhibited more severe cognitive and behavioral problems compared to males.
FRONTIERS IN PSYCHIATRY
(2023)
Review
Genetics & Heredity
Yulian Fang, Yaqiong Cui, Zhaoqing Yin, Mengzhu Hou, Pan Guo, Hanjie Wang, Nan Liu, Chunquan Cai, Mingbang Wang
Summary: This study conducted a systematic review and meta-analysis on the association between genetic variants and autism spectrum disorder (ASD) risk. The results revealed significant associations between certain single nucleotide polymorphisms (SNPs) of candidate genes, including CNTNAP2, MTHFR, OXTR, and VDR, and increased ASD risk.
Article
Genetics & Heredity
Loryn Byres, Emily Morris, Jehannine Austin
Summary: This study aimed to investigate the perspectives of Autistic adults regarding genetic testing for autism. A web-based survey was distributed to English-speaking Autistic adults via social media. The results indicated that Autistic adults have concerns about genetic testing for autism. Additional work is required to bridge the divide between the Autistic community and health care providers and families to identify if and when genetic testing should be offered.
GENETICS IN MEDICINE
(2023)
Article
Biology
Mark J. Taylor, Tessa M. van Leeuwen, Ralf Kuja-Halkola, Sebastian Lundstrom, Henrik Larsson, Paul Lichtenstein, Sven Bolte, Janina Neufeld
Summary: Synaesthesia is a sensory phenomenon where external stimuli trigger additional sensations. It aggregates in families and is associated with the autism spectrum and autistic traits. Individual differences in self-reported synaesthesia are heritable and influenced by genetic factors, while the association with autistic traits is predominantly under genetic influence and mainly driven by non-social traits.
PROCEEDINGS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
(2023)
Review
Psychology, Clinical
A. Havdahl, M. Niarchou, A. Starnawska, M. Uddin, C. van der Merwe, V Warrier
Summary: Autism spectrum disorder is a heterogeneous neurodevelopmental condition characterized by impaired communication and social interaction, alongside restricted and repetitive behaviors and interests. Recent genetic research has identified common and rare variants contributing to the disorder, with different risk genes converging on mechanisms such as gene regulation and synaptic connectivity. Further research is needed to better understand the genetic architecture of autism and integrate multi-omics data for comprehensive analysis.
PSYCHOLOGICAL MEDICINE
(2021)
Article
Genetics & Heredity
Chloe X. Yap, Gail A. Alvares, Anjali K. Henders, Tian Lin, Leanne Wallace, Alaina Farrelly, Tiana McLaren, Jolene Berry, Anna A. E. Vinkhuyzen, Maciej Trzaskowski, Jian Zeng, Yuanhao Yang, Dominique Cleary, Rachel Grove, Claire Hafekost, Alexis Harun, Helen Holdsworth, Rachel Jellett, Feroza Khan, Lauren Lawson, Jodie Leslie, Mira Levis Frenk, Anne Masi, Nisha E. Mathew, Melanie Muniandy, Michaela Nothard, Peter M. Visscher, Paul A. Dawson, Cheryl Dissanayake, Valsamma Eapen, Helen S. Heussler, Andrew J. O. Whitehouse, Naomi R. Wray, Jacob Gratten
Summary: This study based on the data from the Australian Autism Biobank found significant differences in genetic scores for ASD and IQ among different groups, with the IQ genetic score being able to predict the IQ of undiagnosed children and parents. Additionally, the genetic score related to chronotype was associated with sleep disturbances in the ASD group.
Article
Genetics & Heredity
Giovana E. da Costa, Giordane L. Fernandes, Juliana C. G. Rodrigues, Diana F. da V. B. Leal, Lucas F. Pastana, Esdras E. B. Pereira, Paulo P. Assumpcao, Rommel M. R. Burbano, Sidney E. B. dos Santos, Joao F. Guerreiro, Marianne R. Fernandes, Ney P. C. dos Santos
Summary: Autism spectrum disorder is a neurodevelopmental disorder affecting one in 160 children worldwide. Genetic factors, including CHD8, SCN2A, FOXP1, and SYNGAP1 genes, play a role in the pathophysiology of autism. This study investigated the genetic profile of Amazonian Amerindians, identifying 16 variants with significantly different frequencies from other populations. Understanding these variants can contribute to the diagnosis and pathophysiology of autism in Amerindians and admixed populations.
Article
Pediatrics
Neeharika Sriram, Priyanka Madaan, Prahbhjot Malhi, Naresh Sachdeva, Sandeep Negi, Jhumki Das, Rakesh Kumar, Jitendra Kumar Sahu, Pratibha Singhi
Summary: This study found that about 12.3% of children with autism spectrum disorder (ASD) have elevated levels of testosterone, DHEAS, and androstenedione, and 78% of those with hyperandrogenism have severe ASD. However, there is no significant correlation between ASD severity and androgen levels.
INDIAN JOURNAL OF PEDIATRICS
(2022)
Editorial Material
Genetics & Heredity
Maitreya Das, Santhosh Girirajan
Summary: High-throughput sequencing has uncovered numerous risk genes for complex neurodevelopmental disorders, but understanding the functional consequences of mutations is crucial for connecting risk variants to resulting phenotypes. Researchers have defined a novel molecular subtype of neurodevelopmental disorder associated with mutations in DHX30 and characterized location-specific mutational effects in cell culture and zebrafish models.
