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Journal of Neurodevelopmental Disorders

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https://www.readbyqxmd.com/read/29788902/dystonia-deafness-syndrome-caused-by-actb-p-arg183trp-heterozygosity-shows-striatal-dopaminergic-dysfunction-and-response-to-pallidal-stimulation
#1
Inger Marie Skogseid, Oddveig Røsby, Ane Konglund, James P Connelly, Bård Nedregaard, Greg Eigner Jablonski, Nadja Kvernmo, Asbjørg Stray-Pedersen, Joel C Glover
BACKGROUND: Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dystonia. ACTB p.Arg183Trp heterozygosity has been reported in six patients to cause combined infant-onset deafness and dystonia manifesting in adolescence or young adulthood. Three of these have received beneficial pallidal stimulation. Brain imaging to assess striatal function has not been reported previously, however. Nor has a comprehensive hypothesis been presented for how the pleiotropic manifestations of this specific beta-actin gene mutation originate developmentally...
May 22, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29776328/recent-progress-and-considerations-for-aav-gene-therapies-targeting-the-central-nervous-system
#2
REVIEW
Erik Allen Lykken, Charles Shyng, Reginald James Edwards, Alejandra Rozenberg, Steven James Gray
BACKGROUND: Neurodevelopmental disorders, as a class of diseases, have been particularly difficult to treat even when the underlying cause(s), such as genetic alterations, are understood. What treatments do exist are generally not curative and instead seek to improve quality of life for affected individuals. The advent of gene therapy via gene replacement offers the potential for transformative therapies to slow or even stop disease progression for current patients and perhaps minimize or prevent the appearance of symptoms in future patients...
May 18, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29665782/a-direct-regulatory-link-between-microrna-137-and-shank2-implications-for-neuropsychiatric-disorders
#3
Ana de Sena Cortabitarte, Simone Berkel, Flavia-Bianca Cristian, Christine Fischer, Gudrun A Rappold
BACKGROUND: Mutations in the SHANK genes, which encode postsynaptic scaffolding proteins, have been linked to a spectrum of neurodevelopmental disorders. The SHANK genes and the schizophrenia-associated microRNA-137 show convergence on several levels, as they are both expressed at the synapse, influence neuronal development, and have a strong link to neurodevelopmental and neuropsychiatric disorders like intellectual disability, autism, and schizophrenia. This compiled evidence raised the question if the SHANKs might be targets of miR-137...
April 17, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29649977/development-of-fine-motor-skills-is-associated-with-expressive-language-outcomes-in-infants-at-high-and-low-risk-for-autism-spectrum-disorder
#4
Boin Choi, Kathryn A Leech, Helen Tager-Flusberg, Charles A Nelson
BACKGROUND: A growing body of research suggests that fine motor abilities are associated with skills in a variety of domains in both typical and atypical development. In this study, we investigated developmental trajectories of fine motor skills between 6 and 24 months in relation to expressive language outcomes at 36 months in infants at high and low familial risk for autism spectrum disorder (ASD). METHODS: Participants included 71 high-risk infants without ASD diagnoses, 30 high-risk infants later diagnosed with ASD, and 69 low-risk infants without ASD diagnoses...
April 12, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29631546/neural-correlates-of-socio-emotional-perception-in-22q11-2-deletion-syndrome
#5
Lydia Dubourg, Pascal Vrticka, Martin Debbané, Léa Chambaz, Stephan Eliez, Maude Schneider
BACKGROUND: Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this study, we investigated neural substrates of socio-emotional perception. METHODS: We used event-related functional magnetic resonance imaging (fMRI) to explore neural activity in individuals with 22q11DS and healthy controls during the visualization of stimuli varying in social (social or non-social) or emotional (positive or negative valence) content...
April 10, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29587625/the-effects-of-intranasal-oxytocin-on-reward-circuitry-responses-in-children-with-autism-spectrum-disorder
#6
R K Greene, M Spanos, C Alderman, E Walsh, J Bizzell, M G Mosner, J L Kinard, G D Stuber, T Chandrasekhar, L C Politte, L Sikich, G S Dichter
BACKGROUND: Intranasal oxytocin (OT) has been shown to improve social communication functioning of individuals with autism spectrum disorder (ASD) and, thus, has received considerable interest as a potential ASD therapeutic agent. Although preclinical research indicates that OT modulates the functional output of the mesocorticolimbic dopamine system that processes rewards, no clinical brain imaging study to date has examined the effects of OT on this system using a reward processing paradigm...
March 27, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29566645/oscillatory-motor-patterning-is-impaired-in-neurofibromatosis-type-1-a-behavioural-eeg-and-fmri-study
#7
Gilberto Silva, Isabel Catarina Duarte, Inês Bernardino, Tânia Marques, Inês R Violante, Miguel Castelo-Branco
BACKGROUND: Neurofibromatosis type1 (NF1) is associated with a broad range of behavioural deficits, and an imbalance between excitatory and inhibitory neurotransmission has been postulated in this disorder. Inhibition is involved in the control of frequency and stability of motor rhythms. Therefore, we aimed to explore the link between behavioural motor control, brain rhythms and brain activity, as assessed by EEG and fMRI in NF1. METHODS: We studied a cohort of 21 participants with NF1 and 20 age- and gender-matched healthy controls, with a finger-tapping task requiring pacing at distinct frequencies during EEG and fMRI scans...
March 22, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29558884/few-individuals-with-lennox-gastaut-syndrome-have-autism-spectrum-disorder-a-comparison-with-dravet-syndrome
#8
Na He, Bing-Mei Li, Zhao-Xia Li, Jie Wang, Xiao-Rong Liu, Heng Meng, Bin Tang, Wen-Jun Bian, Yi-Wu Shi, Wei-Ping Liao
BACKGROUND: Autism spectrum disorder (ASD) in epilepsy has been a topic of increasing interest, which in general occurs in 15-35% of the patients with epilepsy, more frequently in those with intellectual disability (ID). Lennox-Gastaut syndrome (LGS) and Dravet syndrome (DS) are two typical forms of intractable epileptic encephalopathy associated with ID. We previously reported that ASD was diagnosed in 24.3% of patients with DS, higher in those with profound ID. Given the severe epilepsy and high frequency of ID in LGS, it is necessary to know whether ASD is a common psychomotor co-morbidity of LGS...
March 20, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29490614/a-cross-syndrome-cohort-comparison-of-sleep-disturbance-in-children-with-smith-magenis-syndrome-angelman-syndrome-autism-spectrum-disorder-and-tuberous-sclerosis-complex
#9
J Trickett, M Heald, C Oliver, C Richards
BACKGROUND: Sleep disturbance is common in children with neurodevelopmental disorders, with high rates identified in children with Smith-Magenis syndrome (SMS), Angelman syndrome (AS), autism spectrum disorder (ASD) and tuberous sclerosis complex (TSC). Phenotypic sleep profiles for these groups may implicate different pathways to sleep disturbance. At present, cross-group comparisons that might elucidate putative phenotypic sleep characteristics are limited by measurement differences between studies...
March 1, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29482495/the-feasibility-of-using-actigraphy-to-characterize-sleep-in-rett-syndrome
#10
Alyssa M Merbler, Breanne J Byiers, John J Garcia, Timothy J Feyma, Frank J Symons
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. Sleep problems are reported by the majority of caregivers of individuals with RTT. METHODS: The present study aimed to replicate and extend previous work about the feasibility of measuring sleep with an actigraph device in a sample of girls with clinically diagnosed RTT (N = 13, mean age = 9 years, 5 months). Participants wore an actigraph device day and night for seven consecutive days...
February 27, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29439664/heart-rate-defined-sustained-attention-in-infants-at-risk-for-autism
#11
Bridgette L Tonnsen, John E Richards, Jane E Roberts
BACKGROUND: Although aberrant visual attention has been identified in infants at high familial risk for autism, the developmental emergence of atypical attention remains unclear. Integrating biological measures of attention into prospective high-risk infant studies may inform more nuanced developmental trajectories, clarifying the onset and course of atypical attention and potentially advancing early screening or treatment protocols. Heart rate-defined sustained attention (HRDSA) is a well-validated biological measure of attentional engagement that, in non-clinical infant populations, provides incremental information about attentional engagement beyond looking behaviors alone...
February 13, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29402231/the-first-international-conference-on-syngap1-related-brain-disorders-a-stakeholder-meeting-of-families-researchers-clinicians-and-regulators
#12
REVIEW
Monica Weldon, Murat Kilinc, J Lloyd Holder, Gavin Rumbaugh
BACKGROUND: Pathologic mutations in SYNGAP1 cause a genetically defined form of intellectual disability (ID) with comorbid epilepsy and autistic features. While only recently discovered, pathogenicity of this gene is a relatively frequent genetic cause of classically undefined developmental delay that progresses to ID with commonly occurring comorbidities. MAIN BODY: A meeting of 150 people was held that included affected individuals and their caregivers, clinicians that treat this and related brain disorders, neuroscientists that study SYNGAP1 biology or the function of related genes, and representatives from government agencies that fund science and approve new medical treatments...
February 5, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29378525/developmental-change-in-look-durations-predicts-later-effortful-control-in-toddlers-at-familial-risk-for-asd
#13
Alexandra Hendry, Emily J H Jones, Rachael Bedford, Teodora Gliga, Tony Charman, Mark H Johnson
BACKGROUND: Difficulties with executive functioning (EF) are common in individuals with a range of developmental disorders, including autism spectrum disorder (ASD). Interventions that target underlying mechanisms of EF early in development could be broadly beneficial, but require infant markers of such mechanisms in order to be feasible. Prospective studies of infants at high familial risk (HR) for ASD have revealed a surprising tendency for HR toddlers to show longer epochs of attention to faces than low-risk (LR) controls...
January 29, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29378522/auditory-repetition-suppression-alterations-in-relation-to-cognitive-functioning-in-fragile-x-syndrome-a-combined-eeg-and-machine-learning-approach
#14
Inga Sophia Knoth, Tarek Lajnef, Simon Rigoulot, Karine Lacourse, Phetsamone Vannasing, Jacques L Michaud, Sébastien Jacquemont, Philippe Major, Karim Jerbi, Sarah Lippé
BACKGROUND: Fragile X syndrome (FXS) is a neurodevelopmental genetic disorder causing cognitive and behavioural deficits. Repetition suppression (RS), a learning phenomenon in which stimulus repetitions result in diminished brain activity, has been found to be impaired in FXS. Alterations in RS have been associated with behavioural problems in FXS; however, relations between RS and intellectual functioning have not yet been elucidated. METHODS: EEG was recorded in 14 FXS participants and 25 neurotypical controls during an auditory habituation paradigm using repeatedly presented pseudowords...
January 29, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29378508/memory-profiles-in-down-syndrome-across-development-a-review-of-memory-abilities-through-the-lifespan
#15
REVIEW
Mary Godfrey, Nancy Raitano Lee
Down syndrome (DS) is associated with a variety of cognitive impairments, notably memory impairments. Due to the high prevalence rates of early-onset dementia associated with DS, it is imperative to understand the comprehensive development of memory impairments beginning in childhood and into adulthood, as this may help researchers identify precursors of dementia at earlier stages of development and pinpoint targets for memory intervention. The current paper provides a systematic, developmentally focused review of the nature of memory difficulties in DS across the lifespan...
January 29, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29329513/the-behavioural-phenotype-of-potocki-lupski-syndrome-a-cross-syndrome-comparison
#16
Stacey Bissell, Lucy Wilde, Caroline Richards, Jo Moss, Chris Oliver
BACKGROUND: Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion. While SMS has a relatively well-delineated behavioural phenotype, the behavioural profile in PTLS is less well defined, despite purported associations with autism spectrum disorder (ASD) and the suggestion that some behaviours may be diametric to those seen in SMS. METHODS: Caregivers of individuals with PTLS (N = 34; M age = 12...
January 10, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29329511/classifying-and-characterizing-the-development-of-adaptive-behavior-in-a-naturalistic-longitudinal-study-of-young-children-with-autism
#17
Cristan Farmer, Lauren Swineford, Susan E Swedo, Audrey Thurm
BACKGROUND: Adaptive behavior, or the ability to function independently in ones' environment, is a key phenotypic construct in autism spectrum disorder (ASD). Few studies of the development of adaptive behavior during preschool to school-age are available, though existing data demonstrate that the degree of ability and impairment associated with ASD, and how it manifests over time, is heterogeneous. Growth mixture models are a statistical technique that can help parse this heterogeneity in trajectories...
January 5, 2018: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29281965/is-dopamine-transporter-mediated-dopaminergic-signaling-in-the-retina-a-noninvasive-biomarker-for-attention-deficit-hyperactivity-disorder-a-study-in-a-novel-dopamine-transporter-variant-val559-transgenic-mouse-model
#18
Heng Dai, Chad R Jackson, Gwynne L Davis, Randy D Blakely, Douglas G McMahon
BACKGROUND: Dopamine (DA) is a critical neuromodulator in the retina. Disruption of retinal DA synthesis and signaling significantly attenuates light-adapted, electroretinogram (ERG) responses, as well as contrast sensitivity and acuity. As these measures can be detected noninvasively, they may provide opportunities to detect disease processes linked to perturbed DA signaling. Recently, we identified a rare, functional DA transporter (DAT, SLC6A3) coding substitution, Ala559Val, in subjects with attention-deficit/hyperactivity disorder (ADHD), demonstrating that DAT Val559 imparts anomalous DA efflux (ADE) with attendant physiological, pharmacological, and behavioral phenotypes...
December 28, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29126394/prospective-study-of-autism-phenomenology-and-the-behavioural-phenotype-of-phelan-mcdermid-syndrome-comparison-to-fragile-x-syndrome-down-syndrome-and-idiopathic-autism-spectrum-disorder
#19
Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson, Christopher Oliver
BACKGROUND: The limited behavioural phenotype literature on Phelan-McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS...
November 10, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29121855/saccade-adaptation-deficits-in-developmental-dyslexia-suggest-disruption-of-cerebellar-dependent-learning
#20
Edward G Freedman, Sophie Molholm, Michael J Gray, Daniel Belyusar, John J Foxe
BACKGROUND: Estimates of the prevalence of developmental dyslexia in the general population range from 5% to as many as 10%. Symptoms include reading, writing, and language deficits, but the severity and mix of symptoms can vary widely across individuals. In at least some people with dyslexia, the structure and function of the cerebellum may be disordered. Saccadic adaptation requires proper function of the cerebellum and brainstem circuitry and might provide a simple, noninvasive assay for early identification and sub-phenotyping in populations of children who may have dyslexia...
November 9, 2017: Journal of Neurodevelopmental Disorders
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