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Journal of Neurodevelopmental Disorders

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https://www.readbyqxmd.com/read/28503211/delta-rhythmicity-is-a-reliable-eeg-biomarker-in-angelman-syndrome-a-parallel-mouse-and-human-analysis
#1
Michael S Sidorov, Gina M Deck, Marjan Dolatshahi, Ronald L Thibert, Lynne M Bird, Catherine J Chu, Benjamin D Philpot
BACKGROUND: Clinicians have qualitatively described rhythmic delta activity as a prominent EEG abnormality in individuals with Angelman syndrome, but this phenotype has yet to be rigorously quantified in the clinical population or validated in a preclinical model. Here, we sought to quantitatively measure delta rhythmicity and evaluate its fidelity as a biomarker. METHODS: We quantified delta oscillations in mouse and human using parallel spectral analysis methods and measured regional, state-specific, and developmental changes in delta rhythms in a patient population...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28469730/reduced-vagal-tone-in-women-with-the-fmr1-premutation-is-associated-with-fmr1-mrna-but-not-depression-or-anxiety
#2
Jessica Klusek, Giuseppe LaFauci, Tatyana Adayev, W Ted Brown, Flora Tassone, Jane E Roberts
BACKGROUND: Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This study examined cardiac indicators of autonomic function among women with the FMR1 premutation and control women as potential biomarkers for psychological risk that may be linked to FMR1. METHODS: Baseline inter-beat interval and respiratory sinus arrhythmia (a measure of parasympathetic vagal tone) were measured in 35 women with the FMR1 premutation and 28 controls...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28465761/autonomic-breathing-abnormalities-in-rett-syndrome-caregiver-perspectives-in-an-international-database-study
#3
Jessica Mackay, Jenny Downs, Kingsley Wong, Jane Heyworth, Amy Epstein, Helen Leonard
BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder associated with mutations in the MECP2 gene. Irregular breathing patterns and abdominal bloating are prominent but poorly understood features. Our aims were to characterize the abnormal breathing patterns and abdominal bloating, investigate the distribution of these by age and mutation type and examine their impact and management from a caregiver perspective. METHODS: We invited previously recruited families from the International Rett Syndrome Study to complete a web-based questionnaire concerning their family member with Rett syndrome aged between 2 and 57 years...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28396700/atypical-sound-discrimination-in-children-with-asd-as-indicated-by-cortical-erps
#4
Aurélie Bidet-Caulet, Marianne Latinus, Sylvie Roux, Joëlle Malvy, Frédérique Bonnet-Brilhault, Nicole Bruneau
BACKGROUND: Individuals with autism spectrum disorder (ASD) show a relative indifference to the human voice. Accordingly, and contrarily to their typically developed peers, adults with autism do not show a preferential response to voices in the superior temporal sulcus; this lack of voice-specific response was previously linked to atypical processing of voices. In electroencephalography, a slow event-related potential (ERP) called the fronto-temporal positivity to voice (FTPV) is larger for vocal than for non-vocal sounds, resulting in a voice-sensitive response over right fronto-temporal sites...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28331554/altered-functional-resting-state-hypothalamic-connectivity-and-abnormal-pituitary-morphology-in-children-with-prader-willi-syndrome
#5
Akvile Lukoshe, Suzanne E van Dijk, Gerbrich E van den Bosch, Aad van der Lugt, Tonya White, Anita C Hokken-Koelega
BACKGROUND: Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder, characterized by endocrine problems and hyperphagia, indicating hypothalamic-pituitary dysfunction. However, few studies have explored the underlying neurobiology of the hypothalamus and its functional connectivity with other brain regions. Thus, the aim of this study was to examine the anatomical differences of the hypothalamus, mammillary bodies, and pituitary gland as well as resting state functional connectivity of the hypothalamus in children with PWS...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28316753/a-resting-eeg-study-of-neocortical-hyperexcitability-and-altered-functional-connectivity-in-fragile-x-syndrome
#6
Jun Wang, Lauren E Ethridge, Matthew W Mosconi, Stormi P White, Devin K Binder, Ernest V Pedapati, Craig A Erickson, Matthew J Byerly, John A Sweeney
BACKGROUND: Cortical hyperexcitability due to abnormal fast-spiking inhibitory interneuron function has been documented in fmr1 KO mice, a mouse model of the fragile X syndrome which is the most common single gene cause of autism and intellectual disability. METHODS: We collected resting state dense-array electroencephalography data from 21 fragile X syndrome (FXS) patients and 21 age-matched healthy participants. RESULTS: FXS patients exhibited greater gamma frequency band power, which was correlated with social and sensory processing difficulties...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28289475/combined-genome-wide-linkage-and-targeted-association-analysis-of-head-circumference-in-autism-spectrum-disorder-families
#7
M Woodbury-Smith, D A Bilder, J Morgan, L Jerominski, T Darlington, T Dyer, A D Paterson, H Coon
BACKGROUND: It has long been recognized that there is an association between enlarged head circumference (HC) and autism spectrum disorder (ASD), but the genetics of HC in ASD is not well understood. In order to investigate the genetic underpinning of HC in ASD, we undertook a genome-wide linkage study of HC followed by linkage signal targeted association among a sample of 67 extended pedigrees with ASD. METHODS: HC measurements on members of 67 multiplex ASD extended pedigrees were used as a quantitative trait in a genome-wide linkage analysis...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28286580/erratum-to-a-developmental-longitudinal-investigation-of-autism-phenotypic-profiles-in-fragile-x-syndrome
#8
Michelle Lee, Gary E Martin, Elizabeth Berry-Kravis, Molly Losh
[This corrects the article DOI: 10.1186/s11689-016-9179-0.].
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28270868/preserved-search-asymmetry-in-the-detection-of-fearful-faces-among-neutral-faces-in-individuals-with-williams-syndrome-revealed-by-measurement-of-both-manual-responses-and-eye-tracking
#9
Masahiro Hirai, Yukako Muramatsu, Seiji Mizuno, Naoko Kurahashi, Hirokazu Kurahashi, Miho Nakamura
BACKGROUND: Individuals with Williams syndrome (WS) exhibit an atypical social phenotype termed hypersociability. One theory accounting for hypersociability presumes an atypical function of the amygdala, which processes fear-related information. However, evidence is lacking regarding the detection mechanisms of fearful faces for individuals with WS. Here, we introduce a visual search paradigm to elucidate the mechanisms for detecting fearful faces by evaluating the search asymmetry; the reaction time when both the target and distractors were swapped was asymmetrical...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28174606/lateralization-of-erps-to-speech-and-handedness-in-the-early-development-of-autism-spectrum-disorder
#10
Kayla H Finch, Anne M Seery, Meagan R Talbott, Charles A Nelson, Helen Tager-Flusberg
BACKGROUND: Language is a highly lateralized function, with typically developing individuals showing left hemispheric specialization. Individuals with autism spectrum disorder (ASD) often show reduced or reversed hemispheric lateralization in response to language. However, it is unclear when this difference emerges and whether or not it can serve as an early ASD biomarker. Additionally, atypical language lateralization is not specific to ASD as it is also seen more frequently in individuals with mixed- and left-handedness...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28115996/genotype-and-sex-dependent-effects-of-altered-cntnap2-expression-on-the-function-of-visual-cortical-areas
#11
Leah B Townsend, Spencer L Smith
BACKGROUND: Autism spectrum disorder (ASD) is a heritable, heterogeneous neurodevelopmental disorder that is four times more likely to affect males than females. Despite this overt sex bias, it is unclear how genetic mutations associated with ASD alter cortical circuitry to produce the behavioral phenotypes by which ASD is diagnosed. Contactin-associated protein-like 2 (CNTNAP2) is an ASD-associated gene, and while Cntnap2 knockout (KO) mice recapitulate many of the features of ASD, the effect on cortical circuitry is poorly understood...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28115995/distinct-neural-bases-of-disruptive-behavior-and-autism-symptom-severity-in-boys-with-autism-spectrum-disorder
#12
Y J Daniel Yang, Denis G Sukhodolsky, Jiedi Lei, Eran Dayan, Kevin A Pelphrey, Pamela Ventola
BACKGROUND: Disruptive behavior in autism spectrum disorder (ASD) is an important clinical problem, but its neural basis remains poorly understood. The current research aims to better understand the neural underpinnings of disruptive behavior in ASD, while addressing whether the neural basis is shared with or separable from that of core ASD symptoms. METHODS: Participants consisted of 48 male children and adolescents: 31 ASD (7 had high disruptive behavior) and 17 typically developing (TD) controls, well-matched on sex, age, and IQ...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28050218/a-developmental-longitudinal-investigation-of-autism-phenotypic-profiles-in-fragile-x-syndrome
#13
Michelle Lee, Gary E Martin, Elizabeth Berry-Kravis, Molly Losh
BACKGROUND: Targeting overlapping behavioral phenotypes in neurogenetic disorders can help elucidate gene-behavior relationships. Fragile X syndrome (FXS) and autism spectrum disorder (ASD) have been studied as a model for this approach, and important areas of phenotypic overlap and divergence have been documented. However, few studies have examined how the manifestation of ASD-related phenotypes in FXS may change over development, a question which has important implications for conceptualizing shared etiologies of these disorders and their constituent phenotypes...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28050217/verbal-labels-increase-the-salience-of-novel-objects-for-preschoolers-with-typical-development-and-williams-syndrome-but-not-in-autism
#14
Giacomo Vivanti, Darren R Hocking, Peter Fanning, Cheryl Dissanayake
BACKGROUND: Early research has documented that young children show an increased interest toward objects that are verbally labeled by an adult, compared to objects that are presented without a label. It is unclear whether the same phenomenon occurs in neurodevelopmental disorders affecting social development, such as autism spectrum disorder (ASD) and Williams syndrome (WS). METHODS: The present study used a novel eye-tracking paradigm to determine whether hearing a verbal label increases the salience of novel objects in 35 preschoolers with ASD, 18 preschoolers with WS, and 20 typically developing peers...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27980692/wnt-signaling-networks-in-autism-spectrum-disorder-and-intellectual-disability
#15
REVIEW
Vickie Kwan, Brianna K Unda, Karun K Singh
BACKGROUND: Genetic factors play a major role in the risk for neurodevelopmental disorders such as autism spectrum disorders (ASDs) and intellectual disability (ID). The underlying genetic factors have become better understood in recent years due to advancements in next generation sequencing. These studies have uncovered a vast number of genes that are impacted by different types of mutations (e.g., de novo, missense, truncation, copy number variations). ABSTRACT: Given the large volume of genetic data, analyzing each gene on its own is not a feasible approach and will take years to complete, let alone attempt to use the information to develop novel therapeutics...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27933109/functional-characterization-of-rare-foxp2-variants-in-neurodevelopmental-disorder
#16
Sara B Estruch, Sarah A Graham, Swathi M Chinnappa, Pelagia Deriziotis, Simon E Fisher
BACKGROUND: Heterozygous disruption of FOXP2 causes a rare form of speech and language impairment. Screens of the FOXP2 sequence in individuals with speech/language-related disorders have identified several rare protein-altering variants, but their phenotypic relevance is often unclear. FOXP2 encodes a transcription factor with a forkhead box DNA-binding domain, but little is known about the functions of protein regions outside this domain. METHODS: We performed detailed functional analyses of seven rare FOXP2 variants found in affected cases, including three which have not been previously characterized, testing intracellular localization, transcriptional regulation, dimerization, and interaction with other proteins...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27933108/postural-orientation-and-equilibrium-processes-associated-with-increased-postural-sway-in-autism-spectrum-disorder-asd
#17
Zheng Wang, Rami R Hallac, Kaitlin C Conroy, Stormi P White, Alex A Kane, Amy L Collinsworth, John A Sweeney, Matthew W Mosconi
BACKGROUND: Increased postural sway has been repeatedly documented in children with autism spectrum disorder (ASD). Characterizing the control processes underlying this deficit, including postural orientation and equilibrium, may provide key insights into neurophysiological mechanisms associated with ASD. Postural orientation refers to children's ability to actively align their trunk and head with respect to their base of support, while postural equilibrium is an active process whereby children coordinate ankle dorsi-/plantar-flexion and hip abduction/adduction movements to stabilize their upper body...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27891188/associations-between-social-cognition-skills-and-function-and-subclinical-negative-and-positive-symptoms-in-22q11-2-deletion-syndrome
#18
A Vangkilde, J R M Jepsen, H Schmock, C Olesen, S Arnarsdóttir, W F C Baaré, K J Plessen, M Didriksen, H R Siebner, T Werge, L Olsen
BACKGROUND: Identification of the early signs of schizophrenia would be a major achievement for the early intervention and prevention strategies in psychiatry. Social impairments are defining features of schizophrenia. Impairments of individual layers of social competencies are frequently described in individuals with 22q11.2 deletion syndrome (22q11.2DS), who have high risk of schizophrenia. It is unclear whether and to what extent social impairments associate with subclinical negative and positive symptoms in 22q11...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27843501/visual-memory-profile-in-22q11-2-microdeletion-syndrome-are-there-differences-in-performance-and-neurobiological-substrates-between-tasks-linked-to-ventral-and-dorsal-visual-brain-structures-a-cross-sectional-and-longitudinal-study
#19
Mathilde Bostelmann, Maude Schneider, Maria Carmela Padula, Johanna Maeder, Marie Schaer, Elisa Scariati, Martin Debbané, Bronwyn Glaser, Sarah Menghetti, Stephan Eliez
BACKGROUND: Children affected by the 22q11.2 deletion syndrome (22q11.2DS) have a specific neuropsychological profile with strengths and weaknesses in several cognitive domains. Specifically, previous evidence has shown that patients with 22q11.2DS have more difficulties memorizing faces and visual-object characteristics of stimuli. In contrast, they have better performance in visuo-spatial memory tasks. The first focus of this study was to replicate these results in a larger sample of patients affected with 22q11...
2016: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/27822316/developmental-profiles-of-infants-with-an-fmr1-premutation
#20
Anne C Wheeler, John Sideris, Randi Hagerman, Elizabeth Berry-Kravis, Flora Tassone, Donald B Bailey
BACKGROUND: Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories of children with a premutation are not known. METHODS: This exploratory study examined the cognitive, communication, and social-behavioral profiles of 26 infants with a premutation who were identified through participation in a newborn screening for fragile X syndrome pilot study...
2016: Journal of Neurodevelopmental Disorders
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