Article
Psychiatry
Ling Shan, Jun-Yan Feng, Tian-Tian Wang, Zhi-Da Xu, Fei-Yong Jia
Summary: This study investigated the prevalence and developmental profiles of Autism Spectrum Disorders (ASD) in children with Global developmental delay (GDD) from the perspective of GDD. It found that GDD children with poorer developmental levels are more likely to have comorbid ASD. The developmental profiles of GDD(+)ASD(-) children and GDD(+)ASD(+) children have common features but also differences, with the GDD(+)ASD(+) group having a lower overall development level.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Psychology, Developmental
Brian A. Boyd, Waylon Howard, James W. Bodfish, Luc Lecavalier, Clare Harrop, Desiree Jones, Aaron Dallman, Sahana Nagabhushan Kalburgi, Jill Hollway
Summary: The purpose of this study was to determine the sensitivity of the validated Behavioral Inflexibility Scale (BIS) in detecting developmental changes in autistic children. The findings indicate that the BIS is sensitive to the detection of developmental changes and child-level variables are not associated with those changes. Additionally, children's Time 1 BIS scores can predict their severity on an independent outcome measure.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2022)
Article
Clinical Neurology
Irene Favole, Chiara Davico, Daniele Marcotulli, Roberta Sodero, Barbara Svevi, Federico Amianto, Federica S. Ricci, G. Maurizio Arduino, Benedetto Vitiello
Summary: This study investigated the relationship between sleep disturbance and emotional dysregulation (ED) in preschoolers with neurodevelopmental disorders (NDD) and examined predictors of their persistence over time. The results showed a positive correlation between sleep disturbances and ED, both cross-sectionally and prospectively. Sleep problems are an important comorbidity and potential treatment target for improving emotional stability in NDD.
Article
Behavioral Sciences
Matilde Taddei, Sara Bulgheroni, Enrico Toffalini, Chiara Pantaleoni, Silvia Lanfranchi
Summary: The study aimed to identify developmental profiles associated with autism spectrum disorder (ASD) and global developmental delay (DD) in pre-school aged Italian children. The Griffiths III scales were used to evaluate the developmental profiles, comparing children with ASD + DD and DD alone. The results showed that both groups had lower age equivalent scores in various developmental domains, but the ASD + DD group showed relative weaknesses in Language and Communication and Personal-Social-Emotional scales. The analysis of psychometric function confirmed different profiles between the two diagnostic groups. The Griffiths III is a valid tool for identifying atypical developmental profiles and guiding treatment for ASD and DD.
Article
Endocrinology & Metabolism
Rosario Licitra, Devid Damiani, Valentina Naef, Baldassare Fronte, Stefania Della Vecchia, Chiara Sangiacomo, Maria Marchese, Filippo M. Santorelli
Summary: This study evaluated the embryotoxic effect of Valproic acid (VPA) using the zebrafish model and investigated the potential of cannabidiol as an alternative drug to mitigate the adverse effects of VPA. The results showed that zebrafish simultaneously treated with VPA and cannabidiol displayed similar survival rates and heart rates compared to the untreated control group.
JOURNAL OF BIOLOGICAL REGULATORS AND HOMEOSTATIC AGENTS
(2023)
Article
Psychiatry
Ying Wang, Jingjing Lin, Ying Zeng, Yanan Liu, Yamin Li, Kun Xia, Jingping Zhao, Yidong Shen, Jianjun Ou
Summary: Children with ASD are more likely to experience sleep problems such as delayed sleep onset and increased night awakenings compared to typically developing children. Bed wetting and restlessness are specifically associated with the behavioral problems of children with ASD, highlighting the importance of addressing sleep disturbances in behavioral interventions for ASD.
FRONTIERS IN PSYCHIATRY
(2021)
Article
Psychiatry
Yanan Zhao, Yanan Luo, Rong Zhang, Xiaoying Zheng
Summary: This study examined the effects of the COVID-19 pandemic on 1-6-year-old children with ASD and DD. It found that children with ASD were more likely to experience emotional and behavioral problems compared to children with DD, and discontinuing rehabilitation and receiving teachers' online support had negative effects on the emotional and behavioral well-being of children with ASD.
FRONTIERS IN PSYCHIATRY
(2023)
Article
Multidisciplinary Sciences
Jun Li, Xiaoxuan Sun, Yang You, Qiongwei Li, Chengwen Wei, Linnan Zhao, Mengwen Sun, Hu Meng, Tian Zhang, Weihua Yue, Lifang Wang, Dai Zhang
Summary: The involvement of the high-susceptibility gene AUTS2 in social recognition deficit related to autism spectrum disorders (ASDs) is determined. It is found that deletion of AUTS2 leads to postnatal dentate gyrus development impairment and affects the Supramammillary nucleus-Dentate Gyrus-CA3 (SuM-DG-CA3) neural circuit, resulting in social recognition deficit. Additionally, a previously unknown mechanism of neural cell migration in postnatal dentate gyrus development, related to Auts2 signaling as a transcription repressor, is identified. The correction of the DG-CA3 synaptic transmission or activation of the SuM-DG circuit restores the social recognition deficit in Auts2-deleted mice.
Article
Psychology, Developmental
Jeffrey F. Hine, Liliana Wagner, Rachel Goode, Verity Rodrigues, Julie Lounds Taylor, Amy Weitlauf, Zachary E. Warren
Summary: Most pediatric residency programs lack practical experiences in autism-related care, particularly in diagnostic processes. A new curriculum was designed to enhance hands-on training in diagnostic identification and care coordination for pediatric residents, leading to increased comfort levels in recommended practice behaviors. The feasibility of the model was supported by high completion rates and significant improvements in resident comfort levels.
Article
Psychology, Developmental
Sophia R. D'Agostino, Ana D. Duenas, Alice Bravo, Kelsie Tyson, Diondra Straiton, Giovanna L. Salvatore, Cressida Pacia, Melanie Pellecchia
Summary: Despite having strong evidence, Naturalistic Developmental Behavioral Interventions (NDBIs) are not widely implemented in early intervention programs for children with autism. The slow adoption may be due to different theoretical orientations and a lack of training and support. Efforts should be made to clarify the features, address misconceptions, and provide recommendations to promote wide-scale implementation.
Article
Psychiatry
Yiting Ji, Mingyu Xu, Xin Liu, Yuan Dai, Li Zhou, Fei Li, Lingli Zhang
Summary: This study investigated volumetric differences and the relationship between brain alterations and clinical manifestations in children with autism spectrum disorder (ASD) with and without developmental delay (DD). The results showed that patients with ASD and DD had larger gray matter volumes in the temporopolar region, which were associated with symptom severity and language ability during the pre-language stage. Early interventions targeting joint attention and the temporal pole may help improve clinical symptoms.
FRONTIERS IN PSYCHIATRY
(2022)
Article
Genetics & Heredity
Neda Kamal, Hossein Jafari Khamirani, Mahintaj Dara, Mehdi Dianatpour
Summary: NRXN3 gene encodes neurexin-III, an important molecule in synaptic function. Variants in NRXN3 gene were identified in two Iranian families, leading to developmental delay, learning disability, movement disorder, and behavioral problems. Functional studies confirmed the pathogenicity of these variants. This study demonstrates that NRXN3 mutations can cause a novel syndromic mendelian genetic disorder.
Article
Behavioral Sciences
Brandon S. Aylward, Halim Abbas, Sharief Taraman, Carmela Salomon, Diana Gal-Szabo, Colleen Kraft, Louis Ehwerhemuepha, Anthony Chang, Dennis P. Wall
Summary: Technological breakthroughs and improved data connectivity are transforming the field of developmental and behavioral pediatrics. AI-powered health technologies are gaining regulatory approval and integration into clinical care. However, pediatricians lack sufficient training and preparedness for the AI-driven future. This article explores the potential of AI in pediatric healthcare and discusses the need for better training.
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS
(2023)
Article
Psychology, Developmental
Maranda K. Jones, Bailey J. Sone, Jeffrey Grauzer, Laura Sudec, Aaron Kaat, Megan Y. Roberts
Summary: This study aimed to investigate the effects of caregiver-mediated naturalistic developmental behavioral intervention strategies on language outcomes in autistic children. The results showed that children in the directive condition had significantly higher language assessment scores, and the effect on the frequency of spontaneous directed communication acts was mediated by coordinated joint engagement.
Article
Genetics & Heredity
Sara Gracie, Nivedita Sengupta, Carlos Ferreira, Joshua Pemberton, Ilse Anderson, Xin Wang, Lindsay Rhodes, Kathleen Brown, Tamas Balla, Austin Larson
Summary: This study reports a novel loss-of-function variant in PTDSS1 gene associated with mild-to-moderate developmental delay, which is distinct from the previously reported Lenz-Majewski hyperostotic dwarfism caused by gain-of-function variants in the same gene.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Alona Birjiniuk, Kevin E. Glinton, Natalie Villafranco, Suzanne Boyer, Jason Laufman, Elizabeth Mizerik, Daryl Scott, Sarah H. Elsea, Csaba Galambos, Nidhy P. Varghese, Fernando Scaglia
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2020)
Article
Endocrinology & Metabolism
Kimberly A. Kripps, Warapan Nakayuenyongsuk, Brian J. Shayota, William Berquist, Natalia Gomez-Ospina, Carlos O. Esquivel, Waldo Concepcion, Jacinda B. Sampson, David J. Cristin, Whitney E. Jackson, Samuel Gilliland, Elizabeth A. Pomfret, Michael L. Kueht, Rowland W. Pettit, Youmna A. Sherif, Lisa T. Emrick, Sarah H. Elsea, Ryan Himes, Michio Hirano, Johan L. K. Van Hove, Fernando Scaglia, Gregory M. Enns, Austin A. Larson
MOLECULAR GENETICS AND METABOLISM
(2020)
Article
Endocrinology & Metabolism
Nadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, Manuel Holtgrewee, Banu Nur, Ercan Mihci, Holly Babcock, Claudia Gonzaga-Jauregui, John D. Overton, Jing Xiao, Ariel F. K. Martinez, Maximilian Muenke, Alexander Balzer, Judith Jochimm, Naji El Choubassi, Bjoern Fischer-Zirnsak, Celine Huber, Uwe Kornak, Sarah H. Elsea, Valerie Cormier-Daire, Carlos R. Ferreira
Article
Genetics & Heredity
Sarah H. Elsea, Alexander Solyom, Kirt Martin, Paul Harmatz, John Mitchell, Christina Lampe, Christina Grant, Laila Selim, Neslihan Oneli Mungan, Norberto Guelbert, Bo Magnusson, Erik Sundberg, Ratna Puri, Seema Kapoor, Nur Arslan, Maja DiRocco, Maha Zaki, Seza Ozen, Iman G. Mahmoud, Karoline Ehlert, Andreas Hahn, Gulden Gokcay, Marta Torcoletti, Carlos R. Ferreira
Article
Biology
Yiu Huen Tsang, Yumeng Wang, Kathleen Kong, Caitlin Grzeskowiak, Oksana Zagorodna, Turgut Dogruluk, Hengyu Lu, Nicole Villafane, Venkata Hemanjani Bhavana, Daniela Moreno, Sarah H. Elsea, Han Liang, Gordon B. Mills, Kenneth L. Scott
Editorial Material
Clinical Neurology
Elizabeth G. Ames, Kerri L. Neville, Nancy A. McNamara, Catherine E. Keegan, Sarah H. Elsea
Article
Genetics & Heredity
Wayne Thompson, Patrick Z. Carey, Tyhiesia Donald, Beverly Nelson, Elizabeth J. Bhoj, Dong Li, Hakon Hakonarson, Maricela Ramirez, Sarah H. Elsea, Janice L. Smith, John C. Carey, Andrew K. Sobering
MOLECULAR GENETICS & GENOMIC MEDICINE
(2020)
Article
Genetics & Heredity
Alyssa Grygiel, Felicia Ikolo, Raphielle Stephen, Dawnell Bleasdille, Patricia Robbins-Furman, Beverly Nelson, Andrew K. Sobering, Sarah H. Elsea
Summary: The study in Grenada revealed that SCD patients face significant barriers to healthcare and experience negative impacts on their quality of life. Additionally, caregivers of SCD patients also reported experiencing burdens. The findings highlight the importance of further research into specific healthcare delivery barriers and the need for increased education and support for individuals affected by SCD in Grenada and the wider Caribbean community.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Biochemical Research Methods
Lillian R. Thistlethwaite, Varduhi Petrosyan, Xiqi Li, Marcus J. Miller, Sarah H. Elsea, Aleksandar Milosavljevic
Summary: The paper introduces a novel information-theoretic formulation of identifying highly connected subsets within a weighted graph without the need for computationally costly permutation testing. The proposed algorithm, CTD Connect the Dots, uses data compression to detect highly connected subsets within a given set of nodes.
PLOS COMPUTATIONAL BIOLOGY
(2021)
Article
Genetics & Heredity
John Odom, Hitha Amin, Charul Gijavanekar, Sarah H. Elsea, Stephen Kralik, Javier Chinen, Yuezhen Lin, Amber Meshell Mayfield Yates, Elizabeth Mizerik, Lorraine Potocki, Fernando Scaglia
Summary: Sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) is caused by pathogenic variants in the TRNT1 gene, leading to mitochondrial and cytosolic tRNA processing disorders. In addition to the main symptoms, patients may also exhibit growth hormone deficiency-related hypoglycemia, indicating the complexity and variability of the disease. Metabolomics analysis may provide insights into potential biochemical markers for SIFD.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Peripheral Vascular Disease
Xiqi Li, Aleksandar Milosavljevic, Sarah H. Elsea, Chi Chiu Wang, Fernando Scaglia, Argyro Syngelaki, Kypros H. Nicolaides, Liona C. Poon
Summary: Untargeted metabolomics analysis of plasma samples from high-risk pregnant women before and after aspirin treatment revealed metabolic effects of aspirin and differences potentially associated with treatment response. Aspirin treatment significantly reduces the rate of preterm preeclampsia in high-risk women and the treatment response is significantly linked to internal aspirin exposure levels.
Article
Clinical Neurology
Kirt Martin, Alice McConnell, Sarah H. Elsea
Summary: Pathogenic variants in the ALDH5A1 gene lead to SSADH deficiency, with an estimated global prevalence of 1/460,000 and highest carrier frequencies in East Asian and South Asian populations. However, the pan-ethnic carrier frequency for SSADH deficiency may not be fully represented in gnomAD, requiring further analysis to assess the prevalence of this ultra-rare disease.
JOURNAL OF CHILD NEUROLOGY
(2021)
Article
Genetics & Heredity
Giavanna Verdi, Dong Li, Sarah H. Elsea, Beverly Nelson, Elizabeth J. Bhoj, Hakon Hakonarson, Katherine R. Yearwood, Sharmila Upadhya, Sarah Gluschitz, Janice L. Smith, Andrew K. Sobering
Summary: Through international collaboration, we identified a chromosomal abnormality in a boy of Afro-Caribbean descent. The clinical features of this boy suggest the presence of both partial deletion of chromosome 18 and partial duplication of chromosome 5, a combination that has not been described previously.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Psychology, Developmental
Anusha Gandhi, Dihong Zhou, Joseph Alaimo, Edwin Chon, Michael D. Fountain, Sarah H. Elsea
Summary: Caregivers of children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and identify specific sleep problems for each disorder. Results showed differences in sleep patterns compared to children with autism spectrum disorder (ASD), with PTHS having significant but less severe sleep disturbances than SMS and MAND. More support, education, and ongoing management of sleep are needed for these individuals due to the complexity of these conditions and challenges of underlying sleep disturbance.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2021)
Article
Genetics & Heredity
Alyssa Grygiel, Felicia Ikolo, Raphielle Stephen, Dawnell Bleasdille, Patricia Robbins-Furman, Beverly Nelson, Andrew K. Sobering, Sarah H. Elsea
Summary: Grenada, a small resource-limited Caribbean country, faces challenges in healthcare access and quality of life for individuals with sickle cell disease (SCD). Findings indicate that both SCD patients and caregivers encounter barriers to healthcare, while adults and children with SCD experience different issues in quality of life.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)