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Journals Journal of Neurodevelopmental ...

Journal of Neurodevelopmental Disorders

https://read.qxmd.com/read/38057709/the-association-between-cardiovascular-health-and-cognition-in-adults-with-down-syndrome
#41
JOURNAL ARTICLE
Lauren Frank, Brian Helsel, Danica Dodd, Amy E Bodde, Jessica C Danon, Joseph R Sherman, Daniel E Forsha, Amanda Szabo-Reed, Richard A Washburn, Joseph E Donnelly, Lauren T Ptomey
INTRODUCTION: Evidence in the general population suggests that predictors of cardiovascular health such as moderate to vigorous physical activity (MVPA), cardiorespiratory fitness, and systolic blood pressure are associated with cognitive function. Studies supporting these associations in adults with Down syndrome (DS) are limited. The purpose of this study was to examine the associations between systolic blood pressure, cardiorespiratory fitness, and MVPA on cognition in adults with DS...
December 6, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/38044457/the-use-of-eye-tracking-technology-as-a-tool-to-evaluate-social-cognition-in-people-with-an-intellectual-disability-a-systematic-review-and-meta-analysis
#42
JOURNAL ARTICLE
L A Jenner, E K Farran, A Welham, C Jones, J Moss
BACKGROUND: Relatively little is known about social cognition in people with intellectual disability (ID), and how this may support understanding of co-occurring autism. A limitation of previous research is that traditional social-cognitive tasks place a demand on domain-general cognition and language abilities. These tasks are not suitable for people with ID and lack the sensitivity to detect subtle social-cognitive processes. In autism research, eye-tracking technology has offered an effective method of evaluating social cognition-indicating associations between visual social attention and autism characteristics...
December 4, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37993779/endophenotype-trait-domains-for-advancing-gene-discovery-in-autism-spectrum-disorder
#43
REVIEW
Matthew W Mosconi, Cassandra J Stevens, Kathryn E Unruh, Robin Shafer, Jed T Elison
Autism spectrum disorder (ASD) is associated with a diverse range of etiological processes, including both genetic and non-genetic causes. For a plurality of individuals with ASD, it is likely that the primary causes involve multiple common inherited variants that individually account for only small levels of variation in phenotypic outcomes. This genetic landscape creates a major challenge for detecting small but important pathogenic effects associated with ASD. To address similar challenges, separate fields of medicine have identified endophenotypes, or discrete, quantitative traits that reflect genetic likelihood for a particular clinical condition and leveraged the study of these traits to map polygenic mechanisms and advance more personalized therapeutic strategies for complex diseases...
November 22, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37964200/neural-oscillatory-activity-and-connectivity-in-children-who-stutter-during-a-non-speech-motor-task
#44
JOURNAL ARTICLE
Valeria C Caruso, Amanda Hampton Wray, Erica Lescht, Soo-Eun Chang
BACKGROUND: Neural motor control rests on the dynamic interaction of cortical and subcortical regions, which is reflected in the modulation of oscillatory activity and connectivity in multiple frequency bands. Motor control is thought to be compromised in developmental stuttering, particularly involving circuits in the left hemisphere that support speech, movement initiation, and timing control. However, to date, evidence comes from adult studies, with a limited understanding of motor processes in childhood, closer to the onset of stuttering...
November 15, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37957569/a-mouse-model-of-atrx-deficiency-with-cognitive-deficits-and-autistic-traits
#45
JOURNAL ARTICLE
Katherine M Quesnel, Nicole Martin-Kenny, Nathalie G Bérubé
BACKGROUND: ATRX is an ATP-dependent chromatin remodeling protein with essential roles in safeguarding genome integrity and modulating gene expression. Deficiencies in this protein cause ATR-X syndrome, a condition characterized by intellectual disability and an array of developmental abnormalities, including features of autism. Previous studies demonstrated that deleting ATRX in mouse forebrain excitatory neurons postnatally resulted in male-specific memory deficits, but no apparent autistic-like behaviours...
November 13, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37951895/correction-the-diagnostic-journey-of-genetically-defined-neurodevelopmental-disorders
#46
Juliana Simon, Carly Hyde, Vidya Saravanapandian, Rujuta Wilson, Benjamin Schneider, Charlotte Distefano, Aaron Besterman, Shafali Jeste
No abstract text is available yet for this article.
November 11, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37936142/age-of-diagnosis-for-children-with-chromosome-15q-syndromes
#47
JOURNAL ARTICLE
Anne C Wheeler, Marie G Gantz, Heidi Cope, Theresa V Strong, Jessica E Bohonowych, Amanda Moore, Vanessa Vogel-Farley
OBJECTIVE: The objective of this study was to identify the age of diagnosis for children with one of three neurogenetic conditions resulting from changes in chromosome 15 (Angelman syndrome [AS], Prader-Willi syndrome [PWS], and duplication 15q syndrome [Dup15q]). METHODS: Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated for each condition by molecular subtype and year...
November 7, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37919643/autism-through-midlife-trajectories-of-symptoms-behavioral-functioning-and-health
#48
JOURNAL ARTICLE
Jinkuk Hong, Leann Smith DaWalt, Julie Lounds Taylor, Aasma Haider, Marsha Mailick
BACKGROUND: This study describes change in autism symptoms, behavioral functioning, and health measured prospectively over 22 years. Most studies tracking developmental trajectories have focused on autism during childhood, although adulthood is the longest stage of the life course. A robust understanding of how autistic people change through midlife and into older age has yet to be obtained. METHODS: Using an accelerated longitudinal design with 9 waves of data, developmental trajectories were estimated from adolescence through midlife and into early old age in a community-based cohort (n = 406)...
November 3, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37880631/the-microstructural-change-of-the-brain-and-its-clinical-severity-association-in-pediatric-tourette-syndrome-patients
#49
JOURNAL ARTICLE
Chia-Jui Hsu, Lee Chin Wong, Hsin-Pei Wang, Yi-Chun Chung, Te-Wei Kao, Chen-Hsiang Weng, Wen-Chau Wu, Shinn-Forng Peng, Wen-Yih Isaac Tseng, Wang-Tso Lee
BACKGROUND: Gilles de la Tourette syndrome (GTS) is a prevalent pediatric neurological disorder. Most studies point to abnormalities in the cortico-striato-thalamocortical (CSTC) circuits. Neuroimaging studies have shown GTS's extensive impact on the entire brain. However, due to participant variability and potential drug and comorbidity impact, the results are inconsistent. To mitigate the potential impact of participant heterogeneity, we excluded individuals with comorbidities or those currently undergoing medication treatments...
October 25, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37880588/hypovitaminosis-d-in-persons-with-down-syndrome-and-autism-spectrum-disorder
#50
JOURNAL ARTICLE
Natalie K Boyd, Julia Nguyen, Mellad M Khoshnood, Timothy Jiang, Lina Nguyen, Lorena Mendez, Noemi A Spinazzi, Melanie A Manning, Michael S Rafii, Jonathan D Santoro
BACKGROUND: Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to small and homogenous cohorts. This is of particular importance in persons with DS given the high rates of autoimmune disease in this population and the known relationship between vitamin D and immune function. This study sought to investigate vitamin D status in a multi-center cohort of individuals with DS and compare them to individuals with autism spectrum disorder (ASD) and neurotypical (NT) controls...
October 25, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37833681/top-caregiver-concerns-in-rett-syndrome-and-related-disorders-data-from-the-us-natural-history-study
#51
JOURNAL ARTICLE
Jeffrey L Neul, Timothy A Benke, Eric D Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U Peters, Alan K Percy
OBJECTIVE: Recent advances in the understanding of neurodevelopmental disorders such as Rett syndrome (RTT) have enabled the discovery of novel therapeutic approaches that require formal clinical evaluation of efficacy. Clinical trial success depends on outcome measures that assess clinical features that are most impactful for affected individuals. To determine the top concerns in RTT and RTT-related disorders we asked caregivers to list the top caregiver concerns to guide the development and selection of appropriate clinical trial outcome measures for these disorders...
October 13, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37710171/international-consensus-recommendations-for-the-identification-and-treatment-of-tuberous-sclerosis-complex-associated-neuropsychiatric-disorders-tand
#52
JOURNAL ARTICLE
Petrus J de Vries, Tosca-Marie Heunis, Stephanie Vanclooster, Nola Chambers, Stacey Bissell, Anna W Byars, Jennifer Flinn, Tanjala T Gipson, Agnies M van Eeghen, Robert Waltereit, Jamie K Capal, Sebastián Cukier, Peter E Davis, Catherine Smith, J Chris Kingswood, Eva Schoeters, Shoba Srivastava, Megumi Takei, Sugnet Gardner-Lubbe, Aubrey J Kumm, Darcy A Krueger, Mustafa Sahin, Liesbeth De Waele, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is associated with a wide range of physical manifestations for which international clinical recommendations for diagnosis and management have been established. TSC is, however, also associated with a wide range of TSC-Associated Neuropsychiatric Disorders (TAND) that are typically under-identified and under-treated yet associated with a profound burden of disease. The contemporary evidence base for the identification and treatment of TAND is much more limited and, to date, consensus recommendations for the diagnosis and management of TAND have also been limited and non-specific...
September 14, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37674106/correction-pleiotropy-between-language-impairment-and-broader-behavioral-disorders-an-investigation-of-both-common-and-rare-genetic-variants
#53
Ron Nudel, Vivek Appadurai, Alfonso Buil, Merete Nordentoft, Thomas Werge
No abstract text is available yet for this article.
September 6, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37653373/neurogenetic-mechanisms-of-risk-for-adhd-examining-associations-of-polygenic-scores-and-brain-volumes-in-a-population-cohort
#54
JOURNAL ARTICLE
Quanfa He, Taylor J Keding, Qi Zhang, Jiacheng Miao, Justin D Russell, Ryan J Herringa, Qiongshi Lu, Brittany G Travers, James J Li
BACKGROUND: ADHD polygenic scores (PGSs) have been previously shown to predict ADHD outcomes in several studies. However, ADHD PGSs are typically correlated with ADHD but not necessarily reflective of causal mechanisms. More research is needed to elucidate the neurobiological mechanisms underlying ADHD. We leveraged functional annotation information into an ADHD PGS to (1) improve the prediction performance over a non-annotated ADHD PGS and (2) test whether volumetric variation in brain regions putatively associated with ADHD mediate the association between PGSs and ADHD outcomes...
August 31, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37633900/dorsal-visual-stream-and-limk1-hemideletion-haplotype-and-enduring-effects-in-children-with-williams-syndrome
#55
JOURNAL ARTICLE
J Shane Kippenhan, Michael D Gregory, Tiffany Nash, Philip Kohn, Carolyn B Mervis, Daniel P Eisenberg, Madeline H Garvey, Katherine Roe, Colleen A Morris, Bhaskar Kolachana, Ariel M Pani, Leah Sorcher, Karen F Berman
BACKGROUND: Williams syndrome (WS), a rare neurodevelopmental disorder caused by hemizygous deletion of ~ 25 genes from chromosomal band 7q11.23, affords an exceptional opportunity to study associations between a well-delineated genetic abnormality and a well-characterized neurobehavioral profile. Clinically, WS is typified by increased social drive (often termed "hypersociability") and severe visuospatial construction deficits. Previous studies have linked visuospatial problems in WS with alterations in the dorsal visual processing stream...
August 26, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37608302/intelligence-motoric-and-psychological-outcomes-in-children-from-different-art-treatments-a-systematic-review-and-meta-analysis
#56
REVIEW
Tono Djuwantono, Jenifer Kiem Aviani, Wiryawan Permadi, Danny Halim, Tri Hanggono Achmad, Meita Dhamayanti
BACKGROUND: Subtle abnormalities in children's intelligence, motor skills, and psychology from various assisted reproductive treatments (ARTs) might be underdiagnosed. Understanding the prognosis of intelligence, motor skills, and psychology in children from ART would provide parents with reasonable expectations and enable them to plan relevant support to achieve the optimum potential in ART children. METHODS: We searched PubMed, EMBASE, Ovid, Google Scholar, and Scopus databases until April 13, 2021, to identify relevant studies...
August 22, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37608249/why-are-only-some-children-with-autism-spectrum-disorder-misclassified-by-the-social-communication-questionnaire-an-empirical-investigation-of-individual-differences-in-sensitivity-and-specificity-in-a-clinic-referred-sample
#57
JOURNAL ARTICLE
Chimei M Lee, Melody R Altschuler, Amy N Esler, Catherine A Burrows, Rebekah L Hudock
BACKGROUND: The Social Communication Questionnaire (SCQ) is a checklist for autism spectrum disorder (ASD) commonly used in research and clinical practice. While the original validation study suggested that the SCQ was an accurate ASD screener with satisfactory sensitivity and specificity, subsequent studies have yielded mixed results, with some revealing low sensitivity, low specificity, and low utility in some settings. METHOD: The present study examined the psychometric properties of the SCQ as well as the individual difference characteristics of 187 individuals with and without autism spectrum disorder (ASD) who were misclassified or accurately classified by the SCQ in a clinic-referred sample...
August 22, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37608248/aberrant-oscillatory-activity-in-neurofibromatosis-type-1-an-eeg-study-of-resting-state-and-working-memory
#58
JOURNAL ARTICLE
Samantha J Booth, Shruti Garg, Laura J E Brown, Jonathan Green, Gorana Pobric, Jason R Taylor
BACKGROUND: Neurofibromatosis type 1 (NF1) is a genetic neurodevelopmental disorder commonly associated with impaired cognitive function. Despite the well-explored functional roles of neural oscillations in neurotypical populations, only a limited number of studies have investigated oscillatory activity in the NF1 population. METHODS: We compared oscillatory spectral power and theta phase coherence in a paediatric sample with NF1 (N = 16; mean age: 13...
August 22, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37550628/properties-of-white-matter-tract-diffusivity-in-children-with-developmental-dyslexia-and-comorbid-attention-deficit-hyperactivity-disorder
#59
JOURNAL ARTICLE
Ryan J Slaby, C Nikki Arrington, Jeffrey Malins, Rose A Sevcik, Kenneth R Pugh, Robin Morris
BACKGROUND: Developmental dyslexia (DD) and attention deficit/hyperactivity disorder (ADHD) are highly comorbid neurodevelopmental disorders. Individuals with DD or ADHD have both been shown to have deficits in white matter tracts associated with reading and attentional control networks. However, white matter diffusivity in individuals comorbid with both DD and ADHD (DD + ADHD) has not been specifically explored. METHODS: Participants were 3rd and 4th graders (age range = 7 to 11 years; SD = 0...
August 8, 2023: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/37550616/clinical-characteristics-and-long-term-neurodevelopmental-outcomes-of-leukomalacia-in-preterm-infants-and-term-infants-a-cohort-study
#60
JOURNAL ARTICLE
Juan Song, Yuyang Yue, Huiqing Sun, Ping Cheng, Falin Xu, Bingbing Li, Kenan Li, Changlian Zhu
BACKGROUND: Leukomalacia is a serious form of neonatal brain injury that often leads to neurodevelopmental impairment, and studies on neonatal leukomalacia and its long-term outcomes are lacking. The aim of this study was to analyze the clinical manifestations, imaging features, and long-term neurodevelopmental outcomes in preterm infants and term infants with leukomalacia. METHODS: Newborns diagnosed with leukomalacia by head magnetic resonance imaging (MRI) and who were admitted to intensive care units from January 2015 to June 2020 were enrolled...
August 7, 2023: Journal of Neurodevelopmental Disorders
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