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Journal of Neurodevelopmental Disorders

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https://www.readbyqxmd.com/read/28630655/neural-patterns-elicited-by-sentence-processing-uniquely-characterize-typical-development-sli-recovery-and-sli-persistence
#1
Eileen Haebig, Christine Weber, Laurence B Leonard, Patricia Deevy, J Bruce Tomblin
BACKGROUND: A substantial amount of work has examined language abilities in young children with specific language impairment (SLI); however, our understanding of the developmental trajectory of language impairment is limited. Along with studying the behavioral changes that occur across development, it is important to examine the neural indices of language processing for children with different language trajectories. The current study sought to examine behavioral and neural bases of language processing in adolescents showing three different trajectories: those with normal language development (NL), those exhibiting persistent SLI (SLI-Persistent), and those with a history of SLI who appear to have recovered (SLI-Recovered)...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28616098/translation-in-fragile-x-no-home-runs-in-the-first-at-bat
#2
EDITORIAL
Jeremy Veenstra-VanderWeele
No abstract text is available yet for this article.
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28616097/updated-report-on-tools-to-measure-outcomes-of-clinical-trials-in-fragile-x-syndrome
#3
REVIEW
Dejan B Budimirovic, Elizabeth Berry-Kravis, Craig A Erickson, Scott S Hall, David Hessl, Allan L Reiss, Margaret K King, Leonard Abbeduto, Walter E Kaufmann
OBJECTIVE: Fragile X syndrome (FXS) has been the neurodevelopmental disorder with the most active translation of preclinical breakthroughs into clinical trials. This process has led to a critical assessment of outcome measures, which resulted in a comprehensive review published in 2013. Nevertheless, the disappointing outcome of several recent phase III drug trials in FXS, and parallel efforts at evaluating behavioral endpoints for trials in autism spectrum disorder (ASD), has emphasized the need for re-assessing outcome measures and revising recommendations for FXS...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28616096/fragile-x-targeted-pharmacotherapy-lessons-learned-and-future-directions
#4
REVIEW
Craig A Erickson, Matthew H Davenport, Tori L Schaefer, Logan K Wink, Ernest V Pedapati, John A Sweeney, Sarah E Fitzpatrick, W Ted Brown, Dejan Budimirovic, Randi J Hagerman, David Hessl, Walter E Kaufmann, Elizabeth Berry-Kravis
Our understanding of fragile X syndrome (FXS) pathophysiology continues to improve and numerous potential drug targets have been identified. Yet, current prescribing practices are only symptom-based in order to manage difficult behaviors, as no drug to date is approved for the treatment of FXS. Drugs impacting a diversity of targets in the brain have been studied in recent FXS-specific clinical trials. While many drugs have focused on regulation of enhanced glutamatergic or deficient GABAergic neurotransmission, compounds studied have not been limited to these mechanisms...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28616095/acamprosate-in-a-mouse-model-of-fragile-x-syndrome-modulation-of-spontaneous-cortical-activity-erk1-2-activation-locomotor-behavior-and-anxiety
#5
Tori L Schaefer, Matthew H Davenport, Lindsay M Grainger, Chandler K Robinson, Anthony T Earnheart, Melinda S Stegman, Anna L Lang, Amy A Ashworth, Gemma Molinaro, Kimberly M Huber, Craig A Erickson
BACKGROUND: Fragile X Syndrome (FXS) occurs as a result of a silenced fragile X mental retardation 1 gene (FMR1) and subsequent loss of fragile X mental retardation protein (FMRP) expression. Loss of FMRP alters excitatory/inhibitory signaling balance, leading to increased neuronal hyperexcitability and altered behavior. Acamprosate (the calcium salt of N-acetylhomotaurinate), a drug FDA-approved for relapse prevention in the treatment of alcohol dependence in adults, is a novel agent with multiple mechanisms that may be beneficial for people with FXS...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28616094/arbaclofen-in-fragile-x-syndrome-results-of-phase-3-trials
#6
Elizabeth Berry-Kravis, Randi Hagerman, Jeannie Visootsak, Dejan Budimirovic, Walter E Kaufmann, Maryann Cherubini, Peter Zarevics, Karen Walton-Bowen, Paul Wang, Mark F Bear, Randall L Carpenter
BACKGROUND: Arbaclofen improved multiple abnormal phenotypes in animal models of fragile X syndrome (FXS) and showed promising results in a phase 2 clinical study. The objective of the study is to determine safety and efficacy of arbaclofen for social avoidance in FXS. METHODS: Two phase 3 placebo-controlled trials were conducted, a flexible dose trial in subjects age 12-50 (209FX301, adolescent/adult study) and a fixed dose trial in subjects age 5-11 (209FX302, child study)...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28592997/diagnoses-and-characteristics-of-autism-spectrum-disorders-in-children-with-prader-willi-syndrome
#7
Elisabeth M Dykens, Elizabeth Roof, Hailee Hunt-Hawkins, Nathan Dankner, Evon Batey Lee, Carolyn M Shivers, Christopher Daniell, Soo-Jeong Kim
BACKGROUND: A small percentage of people with autism spectrum disorders (ASD) have alterations in chromosome 15q11.2-q3, the critical region for Prader-Willi syndrome (PWS). Data are limited, however, on the rates and characteristics of ASD in PWS. Previous estimates of ASD in PWS (25 to 41%) are questionable as they are based solely on autism screeners given to parents. Inaccurate diagnoses of ASD in PWS can mislead intervention and future research. METHODS: One hundred forty-six children and youth with PWS aged 4 to 21 years (M = 11) were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2)...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28559932/exploring-the-heterogeneity-of-neural-social-indices-for-genetically-distinct-etiologies-of-autism
#8
Caitlin M Hudac, Holly A F Stessman, Trent D DesChamps, Anna Kresse, Susan Faja, Emily Neuhaus, Sara Jane Webb, Evan E Eichler, Raphael A Bernier
BACKGROUND: Autism spectrum disorder (ASD) is a genetically and phenotypically heterogeneous disorder. Promising initiatives utilizing interdisciplinary characterization of ASD suggest phenotypic subtypes related to specific likely gene-disrupting mutations (LGDMs). However, the role of functionally associated LGDMs in the neural social phenotype is unknown. METHODS: In this study of 26 children with ASD (n = 13 with an LGDM) and 13 control children, we characterized patterns of mu attenuation and habituation as children watched videos containing social and nonsocial motions during electroencephalography acquisition...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28529667/motor-problems-in-children-with-neurofibromatosis-type-1
#9
André B Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G Hendriksen, Caspar W N Looman, Pieter F A de Nijs, Marie-Claire de Wit
BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28503211/delta-rhythmicity-is-a-reliable-eeg-biomarker-in-angelman-syndrome-a-parallel-mouse-and-human-analysis
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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