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.
Review
Biochemistry & Molecular Biology
Joy Yoon, Yingwei Mao
Summary: Pathogenic copy number variations (CNVs) play a crucial role in neurodevelopmental/neuropsychiatric disorders (NDs), with the 1q21.1 CNVs showing specific associations with different phenotypes. The genetic structure associated with 1q21.1 is strongly linked to neurodevelopmental dysfunctions like cognitive impairment and reduced synaptic plasticity, posing challenges for the discovery of molecular pathways and phenotypic networks. Variations in phenotypic severity, genomic penetrance, and inheritance are also reported.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Psychiatry
Marly Simoncini, Miriam Violi, Angelo Valetto, Veronica Bertini, Francy Cruz-Sanabria, Leonardo Massoni, Liliana Dell'Osso, Claudia Carmassi
Summary: This study explores the possible correlation between a genomic imbalance and clinical phenotypes in a family case of a proband with autism spectrum disorder. The findings suggest a microduplication that segregates with family members affected by autism spectrum disorder or autistic traits with comorbidity of bipolar disorder.
FRONTIERS IN PSYCHIATRY
(2023)
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
Genetics & Heredity
Amelle Shillington, Martine Lamy, Kelli C. Dominick, Michael Sorter, Craig A. Erickson, Robert Hopkin
Summary: Neurodevelopmental disorders often face barriers in accessing clinical genetics evaluation and testing. However, the establishment of a collaborative psychiatric-genetics consultation service and outpatient clinic has significantly improved care delivery for patients with these disorders. Two years after its launch, this pilot program has shown improved access to genetics evaluation, shorter wait times, and decreased loss to follow-up. Importantly, new genetic diagnoses have resulted in changes in medical care for the majority of patients.
FRONTIERS IN GENETICS
(2022)
Article
Behavioral Sciences
Frederick Shic, Erin C. Barney, Adam J. Naples, Kelsey J. Dommer, Shou An Chang, Beibin Li, Takumi Mcallister, Adham Atyabi, Quan Wang, Raphael Bernier, Geraldine Dawson, James Dziura, Susan Faja, Shafali Spurling Jeste, Michael Murias, Scott P. Johnson, Maura Sabatos-DeVito, Gerhard Helleman, Damla Senturk, Catherine A. Sugar, Sara Jane Webb, James C. Mcpartland, Katarzyna Chawarska
Summary: This study extends the use of the Selective Social Attention task to preschool and school-age children, and demonstrates the differences in socially-specific attentional patterns associated with autism spectrum disorder. The results also suggest that the SSA may have broad potential as a biomarker for autism spectrum disorder.
Article
Medical Laboratory Technology
Shimeng Chen, Juan Xiong, Baiyu Chen, Ciliu Zhang, Xiaolu Deng, Fang He, Lifen Yang, Chen Chen, Jing Peng, Fei Yin
Summary: This study retrospectively analyzed the clinical characteristics and genetic spectrum of 79 ASD-NDDs patients, and found that 51.3% of the patients received a genetic diagnosis. Most patients had comorbid intellectual disability or global developmental delay, as well as epilepsy. The study also identified novel candidate genes related to ASD.
CLINICA CHIMICA ACTA
(2022)
Article
Neurosciences
Dimitrios Papadopoulos
Summary: This study investigated the experiences of mothers raising children with ASD in Greece, revealing that they face emotional, family, and social burdens, experiencing stress, sadness, and vulnerability. The findings provide valuable insight for researchers, clinicians, mental health providers, and policy makers to support families caring for children with ASD.
Article
Genetics & Heredity
Chunchun Hu, Yi Wang, Chunyang Li, Lianni Mei, Bingrui Zhou, Dongyun Li, Huiping Li, Qiong Xu, Xiu Xu
Summary: This study designed a targeted sequencing panel (TSP) for the genetic testing of Autism spectrum disorder (ASD) and its subgroups using next-generation sequencing (NGS), which showed potential for more efficient and cost-effective genetic diagnosis. The findings suggested that ASD children with developmental delay or intellectual disability, especially those with lower language competence, should undergo genetic testing.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Cristina Hernando-Davalillo, Adrian Alcala San Martin, Mar Borregan Prats, Juan Dario Ortigoza-Escobar
Summary: This article describes a case of a 7-year-old girl who was suspected of having ASD and was found to have a duplication of the FAT1 gene through genetic testing. Similar to other reported cases of FAT1 variants or deletion, this patient exhibits non-syndromic ASD without specific facial abnormalities or brain MRI abnormalities. The authors suggest considering FAT1 duplication as a potential cause of ASD.
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
Psychology, Developmental
Korrie Allen, John Harrington, Lauren B. Quetsch, Joshua Masse, Cathy Cooke, James F. Paulson
Summary: This study aimed to evaluate the effectiveness of Parent-Child Interaction Therapy (PCIT) in reducing disruptive behaviors among children with Autism Spectrum Disorder (ASD). The results showed that families who participated in PCIT demonstrated significant reduction in child disruptive behaviors, increase in positive parent-child communication, improvement in child compliance, and reduction in parental stress compared to the control group. Additionally, exploratory analyses revealed no differential treatment response based on ASD severity, receptive language, and age.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)
Article
Pediatrics
Ala Aljubour, Medhat AbdElBaki, Omar El Meligy, Basma Al-Jabri, Heba Sabbagh
Summary: The prevalence of autism spectrum disorder (ASD) has increased rapidly in recent decades, leading to a common need for dental care in affected children. Due to their unique behavioral patterns, these children often struggle to receive dental care in a traditional clinic setting, requiring structured dental visual aids to prepare them for appointments. This study aimed to examine the effectiveness of culturally adapted dental visual aids in reducing anxiety levels during dental visits for children with ASD. A randomized, controlled, blinded clinical trial was conducted involving 64 children aged 6-12 years with ASD, who were randomly assigned to test and control groups based on the type of dental visual aids received. The test group received culturally adapted dental visual aids specifically created for the study, while the control group received regular dental visual aids. Anxiety levels were measured before and after using the dental visual aids, and the data were analyzed using SPSS version 25.0. The test group showed a significant decrease in anxiety levels compared to the control group (p < 0.001), demonstrating the effectiveness of culturally adapted dental visual aids in reducing anxiety levels during dental visits for children with ASD.
Article
Psychology, Developmental
Yonah Hendel, Gal Meiri, Hagit Flusser, Analya Michaelovski, Ilan Dinstein, Idan Menashe
Summary: Research indicates that despite government funding for post-diagnostic genetic testing for children with ASD in Israel, only a third of families completed the testing. Doctor's recommendation was the main factor influencing compliance, with over 50% of non-compliant families considering genetic testing irrelevant. This highlights the importance of clear recommendations and explanations to emphasize the benefits and relevance of genetic testing for children with ASD.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Nutrition & Dietetics
Anna Brzoska, Beata Kazek, Karolina Koziol, Agnieszka Kapinos-Gorczyca, Malgorzata Ferlewicz, Agnieszka Babraj, Anna Makosz-Raczek, Wirginia Likus, Justyna Paprocka, Pawel Matusik, Ewa Emich-Widera
Summary: The study found that compared to healthy peers, children with autism spectrum disorder have more feeding problems in early infancy, including shortened breastfeeding time, delayed introduction of dairy products, needing more trials to introduce new foods, delayed introduction of solid and lumpy foods, longer duration of bottle feeding, delayed attempts to eat using own hands, and needing greater parental support to divert their attention from food during eating.
