Journals Journal of Neurodevelopmental ...

Journal of Neurodevelopmental Disorders
Tess Levy, Jacob Gluckman, Paige M Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J Lloyd Holder, M Pilar Trelles, Kristina Johnson, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava
BACKGROUND: Phelan-McDermid syndrome (PMS) is a genetic neurodevelopmental disorder caused by SHANK3 haploinsufficiency and is associated with an increased risk for seizures. Previous literature indicates that around one third of individuals with PMS also have epilepsy or seizures, with a wide range of types and ages of onset. Investigating the impact of seizures on intellectual and adaptive functioning for PMS is a primary concern for caregivers and is important to understanding the natural history of this syndrome...
May 10, 2024: Journal of Neurodevelopmental Disorders
Madeline Peterson, Molly B D Prigge, Dorothea L Floris, Erin D Bigler, Brandon A Zielinski, Jace B King, Nicholas Lange, Andrew L Alexander, Janet E Lainhart, Jared A Nielsen
BACKGROUND: Autism spectrum disorder has been linked to a variety of organizational and developmental deviations in the brain. One such organizational difference involves hemispheric lateralization, which may be localized to language-relevant regions of the brain or distributed more broadly. METHODS: In the present study, we estimated brain hemispheric lateralization in autism based on each participant's unique functional neuroanatomy rather than relying on group-averaged data...
May 8, 2024: Journal of Neurodevelopmental Disorders
Katilynne Croom, Jeffrey A Rumschlag, Michael A Erickson, Devin Binder, Khaleel A Razak
BACKGROUND: Autism spectrum disorder (ASD) is currently diagnosed in approximately 1 in 44 children in the United States, based on a wide array of symptoms, including sensory dysfunction and abnormal language development. Boys are diagnosed ~ 3.8 times more frequently than girls. Auditory temporal processing is crucial for speech recognition and language development. Abnormal development of temporal processing may account for ASD language impairments. Sex differences in the development of temporal processing may underlie the differences in language outcomes in male and female children with ASD...
May 8, 2024: Journal of Neurodevelopmental Disorders
Theresa V Strong, Jennifer L Miller, Shawn E McCandless, Evelien Gevers, Jack A Yanovski, Lisa Matesevac, Jessica Bohonowych, Shaila Ballal, Kristen Yen, Patricia Hirano, Neil M Cowen, Anish Bhatnagar
BACKGROUND: Prader-Willi syndrome (PWS) is a rare neurobehavioral-metabolic disease caused by the lack of paternally expressed genes in the chromosome 15q11-q13 region, characterized by hypotonia, neurocognitive problems, behavioral difficulties, endocrinopathies, and hyperphagia resulting in severe obesity if energy intake is not controlled. Diazoxide choline extended-release (DCCR) tablets have previously been evaluated for their effects on hyperphagia and other behavioral complications of people with PWS in a Phase 3 placebo-controlled study of participants with PWS, age 4 and older with hyperphagia (C601) and in an open label extension study, C602...
April 26, 2024: Journal of Neurodevelopmental Disorders
Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H C Lee, Mariarita Bertoldi, Gabrielle E McGinty, Melissa L DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K Michael Gibson, Mustafa Sahin, Phillip L Pearl
BACKGROUND: Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children's Hospital Intellectual and Developmental Disabilities Research Centers (IDDRC), including the NIH-sponsored natural history study of clinical, neurophysiological, neuroimaging, and molecular markers, patient-derived induced pluripotent stem cells (iPSC) characterization, and development of a murine model for tightly regulated, cell-specific gene therapy...
April 24, 2024: Journal of Neurodevelopmental Disorders
Xingdong Zeng, Yongle Cai, Mengyan Wu, Haonan Chen, Miao Sun, Hao Yang
The adverse use of alcohol is a serious global public health problem. Maternal alcohol consumption during pregnancy usually causes prenatal alcohol exposure (PAE) in the developing fetus, leading to a spectrum of disorders known as fetal alcohol spectrum disorders (FASD) and even fetal alcohol syndrome (FAS) throughout the lifelong sufferers. The prevalence of FASD is approximately 7.7 per 1,000 worldwide, and is even higher in developed regions. Generally, Ethanol in alcoholic beverages can impair embryonic neurological development through multiple pathways leading to FASD...
April 20, 2024: Journal of Neurodevelopmental Disorders
Rory O'Sullivan, Stacey Bissell, Georgie Agar, Jayne Spiller, Andrew Surtees, Mary Heald, Emma Clarkson, Aamina Khan, Christopher Oliver, Andrew P Bagshaw, Caroline Richards
BACKGROUND: Overactivity is prevalent in several rare genetic neurodevelopmental syndromes, including Smith-Magenis syndrome, Angelman syndrome, and tuberous sclerosis complex, although has been predominantly assessed using questionnaire techniques. Threats to the precision and validity of questionnaire data may undermine existing insights into this behaviour. Previous research indicates objective measures, namely actigraphy, can effectively differentiate non-overactive children from those with attention-deficit hyperactivity disorder...
April 18, 2024: Journal of Neurodevelopmental Disorders
Sally M Stoyell, Jed T Elison, Emily Graupmann, Neely C Miller, Jessica Emerick, Elizabeth Ramey, Kristen Sandness, Mark R Schleiss, Erin A Osterholm
BACKGROUND: Congenital cytomegalovirus (cCMV) is the most common congenital viral infection in the United States. Symptomatic infections can cause severe hearing loss and neurological disability, although ~ 90% of cCMV infections are asymptomatic at birth. Despite its prevalence, the long-term neurobehavioral risks of asymptomatic cCMV infections are not fully understood. The objective of this work was to evaluate for potential long-term neurobehavioral sequelae in infants with asymptomatic cCMV...
April 18, 2024: Journal of Neurodevelopmental Disorders
Dustin Baldridge, Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta, Inez Oh, Virginia Lanzotti, Daleep Grewal, Erin Rooney Riggs, Juliann M Savatt, Rachel Hauck, Abigail Sveden, John N Constantino, Joseph Piven, Christina A Gurnett, Maya Chopra, Heather Hazlett, Philip R O Payne
Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopmental disorder is often lacking. Recognizing this scientific roadblock, 13 Intellectual and Developmental Disabilities Research Centers (IDDRCs) formed a consortium to create the Brain Gene Registry (BGR), a repository pairing clinical genetic data with phenotypic data from participants with variants in putative brain genes...
April 17, 2024: Journal of Neurodevelopmental Disorders
Katherine B McCullough, Amanda Titus, Kate Reardon, Sara Conyers, Joseph D Dougherty, Xia Ge, Joel R Garbow, Patricia Dickson, Carla M Yuede, Susan E Maloney
BACKGROUND: Mucopolysaccharidosis (MPS) IIIB, also known as Sanfilippo Syndrome B, is a devastating childhood disease. Unfortunately, there are currently no available treatments for MPS IIIB patients. Yet, animal models of lysosomal storage diseases have been valuable tools in identifying promising avenues of treatment. Enzyme replacement therapy, gene therapy, and bone marrow transplant have all shown efficacy in the MPS IIIB model systems. A ubiquitous finding across rodent models of lysosomal storage diseases is that the best treatment outcomes resulted from intervention prior to symptom onset...
April 17, 2024: Journal of Neurodevelopmental Disorders
Emily Neuhaus, Hannah Rea, Elizabeth Jones, Hannah Benavidez, Conor Miles, Alana Whiting, Margaret Johansson, Curtis Eayrs, Evangeline C Kurtz-Nelson, Rachel Earl, Raphael A Bernier, Evan E Eichler
BACKGROUND: Neurodevelopmental conditions such as intellectual disability (ID) and autism spectrum disorder (ASD) can stem from a broad array of inherited and de novo genetic differences, with marked physiological and behavioral impacts. We currently know little about the psychiatric phenotypes of rare genetic variants associated with ASD, despite heightened risk of psychiatric concerns in ASD more broadly. Understanding behavioral features of these variants can identify shared versus specific phenotypes across gene groups, facilitate mechanistic models, and provide prognostic insights to inform clinical practice...
April 15, 2024: Journal of Neurodevelopmental Disorders
Daniela Jardim Pereira, Sofia Morais, Alexandre Sayal, João Pereira, Sofia Meneses, Graça Areias, Bruno Direito, António Macedo, Miguel Castelo-Branco
BACKGROUND: Deficits in executive function (EF) are consistently reported in autism spectrum disorders (ASD). Tailored cognitive training tools, such as neurofeedback, focused on executive function enhancement might have a significant impact on the daily life functioning of individuals with ASD. We report the first real-time fMRI neurofeedback (rt-fMRI NF) study targeting the left dorsolateral prefrontal cortex (DLPFC) in ASD. METHODS: Thirteen individuals with autism without intellectual disability and seventeen neurotypical individuals completed a rt-fMRI working memory NF paradigm, consisting of subvocal backward recitation of self-generated numeric sequences...
April 11, 2024: Journal of Neurodevelopmental Disorders
Khrystyna Shchubelka, Liudmyla Turova, Walter Wolfsberger, Kelly Kalanquin, Krista Williston, Oleksii Kurutsa, Anastasiia Makovetska, Yaroslava Hasynets, Violeta Mirutenko, Mykhailo Vakerych, Taras K Oleksyk
BACKGROUND: Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine...
March 27, 2024: 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
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