Journals Journal of Neurodevelopmental ...

Journal of Neurodevelopmental Disorders
Lindsay J Mullin, Joshua Rutsohn, Julia L Gross, Kelly E Caravella, Rebecca L Grzadzinski, Leigh Anne Weisenfeld, Lisa Flake, Kelly N Botteron, Stephen R Dager, Annette M Estes, Juhi Pandey, Robert T Schultz, Tanya St John, Jason J Wolff, Mark D Shen, Joseph Piven, Heather C Hazlett, Jessica B Girault
BACKGROUND: Specifying early developmental differences among neurodevelopmental disorders with distinct etiologies is critical to improving early identification and tailored intervention during the first years of life. Recent studies have uncovered important differences between infants with fragile X syndrome (FXS) and infants with familial history of autism spectrum disorder who go on to develop autism themselves (FH-ASD), including differences in brain development and behavior. Thus far, there have been no studies longitudinally investigating differential developmental skill profiles in FXS and FH-ASD infants...
March 20, 2024: Journal of Neurodevelopmental Disorders
Clémence Feller, Laura Ilen, Stephan Eliez, Maude Schneider
BACKGROUNDS: Social skills are frequently impaired in neurodevelopmental disorders and genetic conditions, including 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). Although often assessed with questionnaires, direct assessment provides a more valid estimate of the constructs. Role-plays (i.e., simulates situational settings) therefore appear to be an appropriate indicator of social skills in daily life. METHODS: This co-registered study involved 53 individuals with 22q11DS, 34 individuals with ASD, and 64 typically developing (TD) peers aged 12-30 years...
March 18, 2024: Journal of Neurodevelopmental Disorders
Steven U Walkley, Sophie Molholm, Bryen Jordan, Robert W Marion, Melissa Wasserstein
We describe a multidisciplinary teamwork approach known as "Operation IDD Gene Team" developed by the Rose F. Kennedy Intellectual and Developmental Disabilities Research Center (RFK IDDRC) at the Albert Einstein College of Medicine. This initiative brings families affected by rare genetic diseases that cause intellectual and developmental disability together with physicians, basic scientists, and their trainees. At team meetings, family members share their child's medical and personal history, physicians describe the broader clinical consequences of the condition, and scientists provide accessible tutorials focused on the fundamental biology of relevant genes...
March 15, 2024: Journal of Neurodevelopmental Disorders
Alexander G P Glebov-McCloud, Walter S Saide, Marie E Gaine, Stefan Strack
Cyclic adenosine 3', 5' monophosphate (cAMP)-dependent Protein Kinase A (PKA) is a multi-functional serine/threonine kinase that regulates a wide variety of physiological processes including gene transcription, metabolism, and synaptic plasticity. Genomic sequencing studies have identified both germline and somatic variants of the catalytic and regulatory subunits of PKA in patients with metabolic and neurodevelopmental disorders. In this review we discuss the classical cAMP/PKA signaling pathway and the disease phenotypes that result from PKA variants...
March 13, 2024: Journal of Neurodevelopmental Disorders
Jessica B Girault, Olivia J Veatch, Hyejung Won
No abstract text is available yet for this article.
March 13, 2024: Journal of Neurodevelopmental Disorders
E Perkovich, A Laakman, S Mire, H Yoshida
BACKGROUND: Over the past years, researchers have been using head-mounted eye-tracking systems to study young children's gaze behaviors in everyday activities through which children learn about the world. This method has great potential to further our understanding of how millisecond-level gaze behaviors create multisensory experiences and fluctuate around social environments. While this line of work can yield insight into early perceptual experiences and potential learning mechanisms, the majority of the work is exclusively conducted with typically-developing children...
March 4, 2024: Journal of Neurodevelopmental Disorders
Doesjka A Hagenaar, Karen G C B Bindels-de Heus, Maud M van Gils, Louise van den Berg, Leontine W Ten Hoopen, Philine Affourtit, Johan J M Pel, Koen F M Joosten, Manon H J Hillegers, Henriëtte A Moll, Marie-Claire Y de Wit, Gwen C Dieleman, Sabine E Mous
BACKGROUND: Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by severe intellectual disability, little to no expressive speech, visual and motor problems, emotional/behavioral challenges, and a tendency towards hyperphagia and weight gain. The characteristics of AS make it difficult to measure these children's functioning with standard clinical tests. Feasible outcome measures are needed to measure current functioning and change over time, in clinical practice and clinical trials...
March 1, 2024: Journal of Neurodevelopmental Disorders
Dayne Martinez, Evan Jiang, Zhaolan Zhou
X-linked genetic causes of intellectual disability (ID) account for a substantial proportion of cases and remain poorly understood, in part due to the heterogeneous expression of X-linked genes in females. This is because most genes on the X chromosome are subject to random X chromosome inactivation (XCI) during early embryonic development, which results in a mosaic pattern of gene expression for a given X-linked mutant allele. This mosaic expression produces substantial complexity, especially when attempting to study the already complicated neural circuits that underly behavior, thus impeding the understanding of disease-related pathophysiology and the development of therapeutics...
February 29, 2024: Journal of Neurodevelopmental Disorders
Matthew W Mosconi, Cassandra J Stevens, Kathryn E Unruh, Robin Shafer, Jed T Elison
No abstract text is available yet for this article.
February 28, 2024: Journal of Neurodevelopmental Disorders
Tufikameni Brima, Edward G Freedman, Kevin D Prinsloo, Erika F Augustine, Heather R Adams, Kuan Hong Wang, Jonathan W Mink, Luke H Shaw, Emma P Mantel, John J Foxe
BACKGROUND: We interrogated auditory sensory memory capabilities in individuals with CLN3 disease (juvenile neuronal ceroid lipofuscinosis), specifically for the feature of "duration" processing. Given decrements in auditory processing abilities associated with later-stage CLN3 disease, we hypothesized that the duration-evoked mismatch negativity (MMN) of the event related potential (ERP) would be a marker of progressively atypical cortical processing in this population, with potential applicability as a brain-based biomarker in clinical trials...
January 6, 2024: Journal of Neurodevelopmental Disorders
Jamie Wren-Jarvis, Rachel Powers, Maia C Lazerwitz, Jaclyn Xiao, Lanya T Cai, Hannah L Choi, Annie Brandes-Aitken, Robyn Chu, Kaitlyn J Trimarchi, Rafael D Garcia, Mikaela A Rowe, Mary C Steele, Elysa J Marco, Pratik Mukherjee
BACKGROUND: Sensory processing dysfunction (SPD) is linked to altered white matter (WM) microstructure in school-age children. Sensory over-responsivity (SOR), a form of SPD, affects at least 2.5% of all children and has substantial deleterious impact on learning and mental health. However, SOR has not been well studied using microstructural imaging such as diffusion MRI (dMRI). Since SOR involves hypersensitivity to external stimuli, we test the hypothesis that children with SOR require compensatory neuroplasticity in the form of superior WM microstructural integrity to protect against internalizing behavior, leaving those with impaired WM microstructure vulnerable to somatization and depression...
January 2, 2024: Journal of Neurodevelopmental Disorders
Yuko Tamaoki, Varun Pasapula, Collin Chandler, Michael S Borland, Olayinka I Olajubutu, Liza S Tharakan, Crystal T Engineer
BACKGROUND: Individuals with autism spectrum disorders (ASD) often exhibit altered sensory processing and deficits in language development. Prenatal exposure to valproic acid (VPA) increases the risk for ASD and impairs both receptive and expressive language. Like individuals with ASD, rodents prenatally exposed to VPA exhibit degraded auditory cortical processing and abnormal neural activity to sounds. Disrupted neuronal morphology has been documented in earlier processing areas of the auditory pathway in VPA-exposed rodents, but there are no studies documenting early auditory pathway physiology...
January 2, 2024: Journal of Neurodevelopmental Disorders
Sabrina Horvath, Sudha Arunachalam
PURPOSE: Using eye-tracking, we assessed the receptive verb vocabularies of age-matched late talkers and typically developing children (experiment 1) and autistic preschoolers (experiment 2). We evaluated how many verbs participants knew and how quickly they processed the linguistic prompt. Our goal is to explore how these eye-gaze measures can be operationalized to capture verb knowledge in late talkers and autistic children. METHOD: Participants previewed two dynamic scenes side-by-side (e...
December 13, 2023: Journal of Neurodevelopmental Disorders
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
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
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
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
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
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
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
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