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Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders J. Neurodev. Disord. (IF 4.9) Pub Date : 2024-03-18 Clémence Feller, Laura Ilen, Stephan Eliez, Maude Schneider
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
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Using team-based precision medicine to advance understanding of rare genetic brain disorders J. Neurodev. Disord. (IF 4.9) Pub Date : 2024-03-15 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
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Protein Kinase A in neurological disorders J. Neurodev. Disord. (IF 4.9) Pub Date : 2024-03-13 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
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Etiologic heterogeneity, pleiotropy, and polygenicity in behaviorally defined intellectual and developmental disabilities J. Neurodev. Disord. (IF 4.9) Pub Date : 2024-03-13 Jessica B. Girault, Olivia J. Veatch, Hyejung Won
Long before the human genome was sequenced, family studies had established that many neurodevelopmental disorders, including many intellectual and developmental disabilities (IDDs), are heritable and aggregate in families. In the past two decades, large-scale genomics studies have revealed that the genetic architecture of IDDs, and neuropsychiatric disorders (NPDs) more broadly, is incredibly complex
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Conducting head-mounted eye-tracking research with young children with autism and children with increased likelihood of later autism diagnosis J. Neurodev. Disord. (IF 4.9) Pub Date : 2024-03-04 E. Perkovich, A. Laakman, S. Mire, H. Yoshida
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
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Outcome measures in Angelman syndrome J. Neurodev. Disord. (IF 4.9) Pub Date : 2024-03-01 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
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
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Overcoming genetic and cellular complexity to study the pathophysiology of X-linked intellectual disabilities J. Neurodev. Disord. (IF 4.9) Pub Date : 2024-02-29 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
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Correction: Endophenotype trait domains for advancing gene discovery in autism spectrum disorder J. Neurodev. Disord. (IF 4.9) Pub Date : 2024-02-28 Matthew W. Mosconi, Cassandra J. Stevens, Kathryn E. Unruh, Robin Shafer, Jed T. Elison
Correction: J Neurodevelop Disord 15, 41 (2023) https://doi.org/10.1186/s11689-023-09511-y Following publication of the original article [1], the author reported that the wrong version of Fig. 1 which contains a PowerPoint background was uploaded. Incorrect figure: Fig. 1 Levels of analysis for mapping etiological pathways associated with behavioral and clinical traits. This schematic shows different
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Assessing the integrity of auditory sensory memory processing in CLN3 disease (Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease)): an auditory evoked potential study of the duration-evoked mismatch negativity (MMN) J. Neurodev. Disord. (IF 4.9) Pub Date : 2024-01-06 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
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
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Degraded inferior colliculus responses to complex sounds in prenatally exposed VPA rats J. Neurodev. Disord. (IF 4.9) Pub Date : 2024-01-02 Yuko Tamaoki, Varun Pasapula, Collin Chandler, Michael S. Borland, Olayinka I. Olajubutu, Liza S. Tharakan, Crystal T. Engineer
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
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White matter microstructure of children with sensory over-responsivity is associated with affective behavior J. Neurodev. Disord. (IF 4.9) Pub Date : 2024-01-02 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
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
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Assessing receptive verb knowledge in late talkers and autistic children: advances and cautionary tales J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-12-13 Sabrina Horvath, Sudha Arunachalam
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
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The association between cardiovascular health and cognition in adults with Down syndrome J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-12-06 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
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
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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 J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-12-04 L. A. Jenner, E. K. Farran, A. Welham, C. Jones, J. Moss
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
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Endophenotype trait domains for advancing gene discovery in autism spectrum disorder J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-11-22 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
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Neural oscillatory activity and connectivity in children who stutter during a non-speech motor task J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-11-15 Valeria C Caruso, Amanda Hampton Wray, Erica Lescht, Soo-Eun Chang
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
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A mouse model of ATRX deficiency with cognitive deficits and autistic traits J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-11-13 Katherine M. Quesnel, Nicole Martin-Kenny, Nathalie G. Bérubé
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
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Correction: The diagnostic journey of genetically defined neurodevelopmental disorders J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-11-11 Juliana Simon, Carly Hyde, Vidya Saravanapandian, Rujuta Wilson, Benjamin Schneider, Charlotte Distefano, Aaron Besterman, Shafali Jeste
Correction: J Neurodev Disord 14, 27 (2022) https://doi.org/10.1186/s11689-022-09439-9 Following publication of the original article [1], the authors found that a contributor (Benjamin Schneider, UCLA, 760 Westwood Plaza, Los Angeles, CA, 90095, USA) was omitted from the publication authorship. The corrected authorship is shown in this article. Simon J, Hyde C, Saravanapandian V, Wilson R, Schneider
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Age of diagnosis for children with chromosome 15q syndromes J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-11-07 Anne C. Wheeler, Marie G. Gantz, Heidi Cope, Theresa V. Strong, Jessica E. Bohonowych, Amanda Moore, Vanessa Vogel-Farley
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]). Data about the diagnostic process for each condition were contributed by the advocacy organizations. Median and interquartile ranges were calculated
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Autism through midlife: trajectories of symptoms, behavioral functioning, and health J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-11-03 Jinkuk Hong, Leann Smith DaWalt, Julie Lounds Taylor, Aasma Haider, Marsha Mailick
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. Using an accelerated
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Hypovitaminosis D in persons with Down syndrome and autism spectrum disorder J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-10-25 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
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
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The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-10-25 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
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
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Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-10-13 Jeffrey L. Neul, Timothy A. Benke, Eric D. Marsh, Bernhard Suter, Lori Silveira, Cary Fu, Sarika U. Peters, Alan K. Percy
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
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International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND) J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-09-14 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
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
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Correction: Pleiotropy between language impairment and broader behavioral disorders—an investigation of both common and rare genetic variants J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-09-06 Ron Nudel, Vivek Appadurai, Alfonso Buil, Merete Nordentoft, Thomas Werge
Correction: J Neurodevelop Disord 13, 54 (2021) https://doi.org/10.1186/s11689-021-09403-z Following the publication of the original article [1], we the authors have discovered two errors pertaining to the rare variant analyses in our article. Namely, one gene (CNTNAP2) was not tested in the original study, although it was selected to be tested; in the article, we noted that no variants passing our
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Neurogenetic mechanisms of risk for ADHD: Examining associations of polygenic scores and brain volumes in a population cohort J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-08-31 Quanfa He, Taylor J. Keding, Qi Zhang, Jiacheng Miao, Justin D. Russell, Ryan J. Herringa, Qiongshi Lu, Brittany G. Travers, James J. Li
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
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Dorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-08-26 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
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
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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 J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-08-22 Chimei M. Lee, Melody R. Altschuler, Amy N. Esler, Catherine A. Burrows, Rebekah L. Hudock
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
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Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-08-22 Samantha J. Booth, Shruti Garg, Laura J. E. Brown, Jonathan Green, Gorana Pobric, Jason R. Taylor
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. We compared oscillatory spectral power and theta phase coherence in a paediatric sample
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Intelligence, motoric and psychological outcomes in children from different ART treatments: a systematic review and meta-analysis J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-08-22 Tono Djuwantono, Jenifer Kiem Aviani, Wiryawan Permadi, Danny Halim, Tri Hanggono Achmad, Meita Dhamayanti
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. We searched
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Properties of white matter tract diffusivity in children with developmental dyslexia and comorbid attention deficit/hyperactivity disorder J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-08-08 Ryan J. Slaby, C. Nikki Arrington, Jeffrey Malins, Rose A. Sevcik, Kenneth R. Pugh, Robin Morris
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
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Clinical characteristics and long-term neurodevelopmental outcomes of leukomalacia in preterm infants and term infants: a cohort study J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-08-07 Juan Song, Yuyang Yue, Huiqing Sun, Ping Cheng, Falin Xu, Bingbing Li, Kenan Li, Changlian Zhu
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. Newborns diagnosed with leukomalacia
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Developmental delays in cortical auditory temporal processing in a mouse model of Fragile X syndrome J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-07-29 Katilynne Croom, Jeffrey A. Rumschlag, Michael A. Erickson, Devin K. Binder, Khaleel A. Razak
Autism spectrum disorders (ASD) encompass a wide array of debilitating symptoms, including sensory dysfunction and delayed language development. Auditory temporal processing is crucial for speech perception and language development. Abnormal development of temporal processing may account for the language impairments associated with ASD. Very little is known about the development of temporal processing
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Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS) J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-07-26 Jorrit Tjeertes, Carlos A. Bacino, Terry Jo Bichell, Lynne M. Bird, Mariana Bustamante, Rebecca Crean, Shafali Jeste, Robert W. Komorowski, Michelle L. Krishnan, Meghan T. Miller, David Nobbs, Cesar Ochoa-Lubinoff, Kimberly A. Parkerson, Alexander Rotenberg, Anjali Sadhwani, Mark D. Shen, Lisa Squassante, Wen-Hann Tan, Brenda Vincenzi, Anne C. Wheeler, Joerg F. Hipp, Elizabeth Berry-Kravis
Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by the absence of a functional UBE3A gene, which causes developmental, behavioral, and medical challenges. While currently untreatable, comprehensive data could help identify appropriate endpoints assessing meaningful improvements in clinical trials. Herein are reported the results from the FREESIAS study assessing the feasibility
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Sleep disturbances are associated with irritability in ASD children with sensory sensitivities J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-07-21 Alona Molcho-Haimovich, Liat Tikotzky, Gal Meiri, Michal Ilan, Analya Michaelovski, Hen Schtaierman, Hava M. Golan, Yair Sadaka, Idan Menashe, Ilan Dinstein
Parent reports suggest that 44–84% of children with ASD exhibit sleep disturbances that are of clinical concern. Previous studies have reported that, in children with ASD, the severity of sleep disturbances is associated with the severity of either sensory problems or aberrant behaviors, but none have performed combined analyses with measures of both sensory and aberrant behaviors symptom domains from
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Correction: Understanding the prevalence and manifestation of anxiety and other socio‑emotional and behavioural difficulties in children with Developmental Language Disorder J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-06-30 Annabel Burnley, Michelle St Clair, Rachael Bedford, Yvonne Wren, Charlotte Dack
Correction: J Neurodev Disord 15, 17 (2023) https://doi.org/10.1186/s11689-023-09486-w Following publication of the original article [1], the authors’ identified an error on Fig. 1. There are asterisks (*) missing from the chart that would denote significant differences. The correct Fig. 1 is and the original article [1] has been corrected. Fig. 1 Difference between groups on parent’s self-report of
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Event-related potential (ERP) markers of 22q11.2 deletion syndrome and associated psychosis J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-06-16 Ana A. Francisco, John J. Foxe, Sophie Molholm
22q11.2 deletion syndrome (22q11.2DS) is a multisystemic disorder characterized by a wide range of clinical features, ranging from life-threatening to less severe conditions. One-third of individuals with the deletion live with mild to moderate intellectual disability; approximately 60% meet criteria for at least one psychiatric condition. 22q11.2DS has become an important model for several medical
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The physical and psychiatric health conditions related to autism genetic scores, across genetic ancestries, sexes and age-groups in electronic health records J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-06-16 Maria Niarchou, Tyne Miller-Fleming, Beth A. Malow, Lea K. Davis
Although polygenic scores (PGS) for autism have been related to various psychiatric and medical conditions, most studies to date have been conducted in research ascertained populations. We aimed to identify the psychiatric and physical conditions associated with autism PGS in a health care setting. We computed PGS for 12,383 unrelated participants of African genetic ancestry (AF) and 65,363 unrelated
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Understanding the prevalence and manifestation of anxiety and other socio-emotional and behavioural difficulties in children with Developmental Language Disorder J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-06-15 Annabel Burnley, Michelle St Clair, Rachael Bedford, Yvonne Wren, Charlotte Dack
It is well-documented that children with Developmental Language Disorder (DLD) have a higher likelihood of experiencing anxiety, as well as other socio-emotional and behavioural (SEB) difficulties. Despite this, there is little consensus as to how these difficulties manifest. This study aims to understand the prevalence of broader SEB difficulties and anxiety, informing intervention development by
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Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-05-27 Rowena Ng, Allison Kalinousky, Jacqueline Harris
Epigenetics, one mechanism by which gene expression can change without any changes to the DNA sequence, was described nearly a century ago. However, the importance of epigenetic processes to neurodevelopment and higher order neurological functions like cognition and behavior is only now being realized. A group of disorders known as the Mendelian disorders of the epigenetic machinery are caused by the
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Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-05-13 Emma Everaert, Jacob A. S. Vorstman, Iris S. Selten, Martijn G. Slieker, Frank Wijnen, Tessel D. Boerma, Michiel L. Houben
Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed behavior. The 22q11.2 deletion syndrome (22q11DS), the most common microdeletion syndrome, is associated with a multitude of both somatic and cognitive symptoms, including EF impairments in school-age and adolescence. However, results vary across different
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Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-04-29 Joseph T. Glessner, Munir E. Khan, Xiao Chang, Yichuan Liu, F. George Otieno, Maria Lemma, Isabella Slaby, Heather Hain, Frank Mentch, Jin Li, Charlly Kao, Patrick M. A. Sleiman, Michael E. March, John Connolly, Hakon Hakonarson
Neurodevelopmental disorders (NDDs), such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are examples of complex and partially overlapping phenotypes that often lack definitive corroborating genetic information. ADHD and ASD have complex genetic associations implicated by rare recurrent copy number variations (CNVs). Both of these NDDs have been shown to share
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The contribution of theta and delta to feedback processing in children with developmental language disorder J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-04-17 Asiya Gul, Lauren S. Baron, Yael Arbel
The study aimed at evaluating feedback processing at the electrophysiological level and its relation to learning in children with developmental language disorder (DLD) to further advance our understanding of the underlying neural mechanisms of feedback-based learning in children with this disorder. A feedback-based probabilistic learning task required children to classify novel cartoon animals into
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No difference in extra-axial cerebrospinal fluid volumes across neurodevelopmental and psychiatric conditions in later childhood and adolescence J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-04-01 Madeline Peterson, Christopher Whetten, Anne M. Clark, Jared A. Nielsen
While autism spectrum disorder has been associated with various organizational and developmental aberrations in the brain, an increase in extra-axial cerebrospinal fluid volume has recently garnered attention. A series of studies indicate that an increased volume between the ages of 6 months and 4 years was both predictive of the autism diagnosis and symptom severity regardless of genetic risk for
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Neurophysiological measures of auditory sensory processing are associated with adaptive behavior in children with Autism Spectrum Disorder J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-04-01 Mairin Cotter, Seydanur Reisli, Ana Alves Francisco, Kathryn-Mary Wakim, Leona Oakes, Michael J. Crosse, John J. Foxe, Sophie Molholm
Atypical auditory cortical processing is consistently found in scalp electrophysiological and magnetoencephalographic studies of Autism Spectrum Disorder (ASD), and may provide a marker of neuropathological brain development. However, the relationship between atypical cortical processing of auditory information and adaptive behavior in ASD is not yet well understood. We sought to test the hypothesis
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Comparison of evoked potentials across four related developmental encephalopathies J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-03-04 Joni N. Saby, Sarika U. Peters, Timothy A. Benke, Shannon M. Standridge, Lindsay C. Swanson, David N. Lieberman, Heather E. Olson, Alexandra P. Key, Alan K. Percy, Jeffrey L. Neul, Charles A. Nelson, Timothy P. L. Roberts, Eric D. Marsh
Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the feasibility and tracking of evoked potentials to disease severity in Rett syndrome and CDKL5 deficiency disorder. The aim of the current study is to characterize evoked potentials in two related
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Co-occurring conditions in children with Down syndrome and autism: a retrospective study J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-03-02 Noemi A. Spinazzi, Jonathan D. Santoro, Katherine Pawlowski, Gabriel Anzueto, Yamini J. Howe, Lina R. Patel, Nicole T. Baumer
Down syndrome (DS) is one of the most common genetic causes of intellectual disability, and it is associated with an increased incidence of numerous co-occurring conditions. Autism spectrum disorder (ASD) is common in persons with DS, with rates reported as high as 39%. However, little is known regarding co-occurring conditions in children with both DS and ASD. A single-center retrospective review
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Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-02-20 Armin Raznahan, Srishti Rau, Luke Schaffer, Siyuan Liu, Ari M. Fish, Catherine Mankiw, Anastasia Xenophontos, Liv S. Clasen, Lisa Joseph, Audrey Thurm, Jonathan D. Blumenthal, Dani S. Bassett, Erin N. Torres
Recurrent gene dosage disorders impart substantial risk for psychopathology. Yet, understanding that risk is hampered by complex presentations that challenge classical diagnostic systems. Here, we present a suite of generalizable analytic approaches for parsing this clinical complexity, which we illustrate through application to XYY syndrome. We gathered high-dimensional measures of psychopathology
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Cortical and subcortical morphological alteration in Angelman syndrome J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-02-14 Xiaonan Du, Lei Wei, Baofeng Yang, Shasha Long, Ji Wang, Aiqi Sun, Yonghui Jiang, Zhongwei Qiao, He Wang, Yi Wang
Angelman syndrome (AS) is a neurodevelopmental disorder with serious seizures. We aim to explore the brain morphometry of patients with AS and figure out whether the seizure is associated with brain development. Seventy-three patients and 26 healthy controls (HC) underwent high-resolution structural brain MRI. Group differences between the HC group and the AS group and also between AS patients with
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NRXN1 depletion in the medial prefrontal cortex induces anxiety-like behaviors and abnormal social phenotypes along with impaired neurite outgrowth in rat J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-02-03 Di Wu, Jiansheng Zhu, Lianghui You, Jingyu Wang, Sufen Zhang, Zhonghui Liu, Qu Xu, Xiaojie Yuan, Lei Yang, Wei Wang, Meiling Tong, Qin Hong, Xia Chi
Neurodevelopmental disorders (NDDs) are a group of disorders induced by abnormal brain developmental processes. The prefrontal cortex (PFC) plays an essential role in executive function, and its role in NDDs has been reported. NDDs are associated with high-risk gene mutations and share partially overlapping genetic abnormalities. Neurexins (NRXNs) are related to autism spectrum disorder (ASD) and attention-deficit
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Self and caregiver report measurement of sensory features in autism spectrum disorder: a systematic review of psychometric properties J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-01-25 Jaclyn Gunderson, Emma Worthley, Breanne Byiers, Frank Symons, Jason Wolff
Unusual responses to sensory stimuli are considered a diagnostic symptom of autism spectrum disorder with mounting research efforts put towards understanding, characterizing, and treating such symptoms. This paper examines self and caregiver report tools used to measure sensory features in ASD through a systematic review of the psychometric evidence for their use. A total of 31 empirical papers were
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Comparing ability and norm-referenced scores as clinical trial outcomes for neurodevelopmental disabilities: a simulation study J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-01-17 Farmer, Cristan, Thurm, Audrey, Troy, Jesse D., Kaat, Aaron J.
For genetic conditions associated with neurodevelopmental disorder (GCAND), developmental domains such as motor ability, thinking and learning, social abilities, and communication are potential intervention targets. Performance on measures of developmental concepts can be expressed using several types of scores. Norm-referenced scores are intended for the diagnostic context, allowing for the identification
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Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-01-14 Busch, Robyn M., Frazier II, Thomas W., Sonneborn, Claire, Hogue, Olivia, Klaas, Patricia, Srivastava, Siddharth, Hardan, Antonio Y., Martinez-Agosto, Julian A., Sahin, Mustafa, Eng, Charis
Individuals with PTEN hamartoma tumor syndrome (PHTS) demonstrate a distinct neurobehavioral profile suggesting primary disruption of frontal lobe symptoms, with more severe cognitive deficits in those with associated autism spectrum disorder (ASD) that extend to other areas of neurobehavioral function as well (e.g., adaptive behavior, sensory deficits). The current study sought to characterize longitudinal
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Computational approaches to address data challenges in intellectual and developmental disabilities research J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-01-12 Wang, Daifeng, Pruett, John R.
Advanced technologies such as gene sequencing and brain imaging have generated a variety of complex datasets for research on neurodevelopmental disorders. These datasets can be valuable resources to help understand biological mechanisms, monitor disease progression, and improve clinical diagnosis in neurodevelopmental disorders. Though computational and statistical approaches have been successfully
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Role of the endocannabinoid system in fragile X syndrome: potential mechanisms for benefit from cannabidiol treatment J. Neurodev. Disord. (IF 4.9) Pub Date : 2023-01-09 Palumbo, Joseph M., Thomas, Brian F., Budimirovic, Dejan, Siegel, Steven, Tassone, Flora, Hagerman, Randi, Faulk, Christopher, O’Quinn, Stephen, Sebree, Terri
Multiple lines of evidence suggest a central role for the endocannabinoid system (ECS) in the neuronal development and cognitive function and in the pathogenesis of fragile X syndrome (FXS). This review describes the ECS, its role in the central nervous system, how it is dysregulated in FXS, and the potential role of cannabidiol as a treatment for FXS. FXS is caused by deficiency or absence of the
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Long-term follow-up of a randomized controlled trial of choline for neurodevelopment in fetal alcohol spectrum disorder: corpus callosum white matter microstructure and neurocognitive outcomes J. Neurodev. Disord. (IF 4.9) Pub Date : 2022-12-16 Gimbel, Blake A., Anthony, Mary E., Ernst, Abigail M., Roediger, Donovan J., de Water, Erik, Eckerle, Judith K., Boys, Christopher J., Radke, Joshua P., Mueller, Bryon A., Fuglestad, Anita J., Zeisel, Steven H., Georgieff, Michael K., Wozniak, Jeffrey R.
Fetal alcohol spectrum disorder (FASD) is a lifelong condition. Early interventions targeting core neurocognitive deficits have the potential to confer long-term neurodevelopmental benefits. Time-targeted choline supplementation is one such intervention that has been shown to provide neurodevelopmental benefits that emerge with age during childhood. We present a long-term follow-up study evaluating
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Social attention during object engagement: toward a cross-species measure of preferential social orienting J. Neurodev. Disord. (IF 4.9) Pub Date : 2022-12-14 Weichselbaum, Claire, Hendrix, Nicole, Albright, Jordan, Dougherty, Joseph D., Botteron, Kelly N., Constantino, John N., Marrus, Natasha
A central challenge in preclinical research investigating the biology of autism spectrum disorder (ASD) is the translation of ASD-related social phenotypes across humans and animal models. Social orienting, an observable, evolutionarily conserved behavior, represents a promising cross-species ASD phenotype given that disrupted social orienting is an early-emerging ASD feature with evidence for predicting
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The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study J. Neurodev. Disord. (IF 4.9) Pub Date : 2022-12-09 Jalnapurkar, Isha, Frazier, Jean A., Roth, Mark, Cochran, David M., Foley, Ann, Merk, Taylor, Venuti, Lauren, Ronco, Lucienne, Raines, Shane, Cadavid, Diego
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repeat (> 200 base pairs) on the promotor region of the fragile X messenger ribonucleoprotein 1 gene (FMR1). This leads to the deficiency or absence of the encoded protein, fragile X messenger
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A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX) J. Neurodev. Disord. (IF 4.9) Pub Date : 2022-11-25 Berry-Kravis, Elizabeth, Hagerman, Randi, Budimirovic, Dejan, Erickson, Craig, Heussler, Helen, Tartaglia, Nicole, Cohen, Jonathan, Tassone, Flora, Dobbins, Thomas, Merikle, Elizabeth, Sebree, Terri, Tich, Nancy, Palumbo, Joseph M., O’Quinn, Stephen
Fragile X syndrome (FXS) is associated with dysregulated endocannabinoid signaling and may therefore respond to cannabidiol therapy. CONNECT-FX was a double-blind, randomized phase 3 trial assessing efficacy and safety of ZYN002, transdermal cannabidiol gel, for the treatment of behavioral symptoms in children and adolescents with FXS. Patients were randomized to 12 weeks of ZYN002 (250 mg or 500 mg
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Correction: EEG resting-state functional connectivity: evidence for an imbalance of external/internal information integration in autism J. Neurodev. Disord. (IF 4.9) Pub Date : 2022-10-16 Wantzen, Prany, Clochon, Patrice, Doidy, Franck, Wallois, Fabrice, Mahmoudzadeh, Mahdi, Desaunay, Pierre, Mille, Christian, Guilé, Jean-Marc, Guénolé, Fabian, Eustache, Francis, Baleyte, Jean-Marc, Guillery-Girard, Bérengère
Correction: J Neurodevelop Disord 14, 47 (2022) https://doi.org/10.1186/s11689-022-09456-8 Following publication of the original article [1], the authors identified error in the author names. The given names and family names were erroneously transposed. The incorrect author name is: Wantzen Prany, Clochon Patrice, Doidy Franck, Wallois Fabrice, Mahmoudzadeh Mahdi, Desaunay Pierre, Mille Christian,