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Journal of Neurodevelopmental Disorders

N Marrus, L P Hall, S J Paterson, J T Elison, J J Wolff, M R Swanson, J Parish-Morris, A T Eggebrecht, J R Pruett, H C Hazlett, L Zwaigenbaum, S Dager, A M Estes, R T Schultz, K N Botteron, J Piven, J N Constantino
BACKGROUND: Language delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of language development in unaffected siblings of children with ASD can inform whether decreased early language ability aggregates with inherited risk for ASD and serves as an ASD endophenotype. METHODS: We implemented two approaches: (1) a meta-analysis of studies comparing language delay, a categorical indicator of language function, and language scores, a continuous metric, in unaffected toddlers at high and low familial risk for ASD, and (2) a parallel analysis of 350 unaffected 24-month-olds in the Infant Brain Imaging Study (IBIS), a prospective study of infants at high and low familial risk for ASD...
October 22, 2018: Journal of Neurodevelopmental Disorders
Lisa Joseph, Cristan Farmer, Colby Chlebowski, Laura Henry, Ari Fish, Catherine Mankiw, Anastasia Xenophontos, Liv Clasen, Bethany Sauls, Jakob Seidlitz, Jonathan Blumenthal, Erin Torres, Audrey Thurm, Armin Raznahan
BACKGROUND: XYY syndrome is a sex chromosome aneuploidy that occurs in ~ 1/850 male births and is associated with increased risk for neurodevelopmental difficulties. However, the profile of neurodevelopmental impairments, including symptoms of autism spectrum disorder (ASD) in XYY remains poorly understood. This gap in knowledge has persisted in part due to lack of access to patient cohorts with dense and homogeneous phenotypic data. METHODS: We evaluated a single-center cohort of 64 individuals with XYY aged 5-25 years, using a standardized battery of cognitive and behavioral assessments spanning developmental milestones, IQ, adaptive behavior, academic achievement, behavioral problems, and gold-standard diagnostic instruments for ASD...
October 22, 2018: Journal of Neurodevelopmental Disorders
J Charpentier, K Kovarski, E Houy-Durand, J Malvy, A Saby, F Bonnet-Brilhault, M Latinus, M Gomot
BACKGROUND: Autism spectrum disorder (ASD) is characterized by atypical behaviors in social environments and in reaction to changing events. While this dyad of symptoms is at the core of the pathology along with atypical sensory behaviors, most studies have investigated only one dimension. A focus on the sameness dimension has shown that intolerance to change is related to an atypical pre-attentional detection of irregularity. In the present study, we addressed the same process in response to emotional change in order to evaluate the interplay between alterations of change detection and socio-emotional processing in children and adults with autism...
September 18, 2018: Journal of Neurodevelopmental Disorders
Sandra Naumann, Ulrike Senftleben, Megha Santhosh, James McPartland, Sara Jane Webb
BACKGROUND: Face processing has been found to be impaired in autism spectrum disorders (ASD). One hypothesis is that individuals with ASD engage in piecemeal compared to holistic face processing strategies. To investigate the role of possible impairments in holistic face processing in individuals with autism, the current study investigated behavioral and electroencephalography (EEG) correlates of face processing (P1/N170 and gamma-band activity) in adolescents with ASD and sex-, age-, and IQ-matched neurotypical controls...
August 30, 2018: Journal of Neurodevelopmental Disorders
Alexandra Zaharia, Maude Schneider, Bronwyn Glaser, Martina Franchini, Sarah Menghetti, Marie Schaer, Martin Debbané, Stephan Eliez
BACKGROUND: Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP develops later in life and plays an important role in face and emotion recognition abilities. Recent studies reported atypical development of CFP in several neurodevelopmental disorders. Taking previous reports of atypical face exploration one step further, our study aims at characterizing face processing in children and adolescents with 22q11...
August 29, 2018: Journal of Neurodevelopmental Disorders
Caitlin E Gannon, Tobias C Britton, Ellen H Wilkinson, Scott S Hall
BACKGROUND: Individuals diagnosed with fragile X syndrome (FXS), the most common known inherited form of intellectual disability, commonly exhibit significant impairments in social gaze behavior during interactions with others. Although this behavior can restrict social development and limit educational opportunities, behavioral interventions designed to improve social gaze behavior have not been developed for this population. In this proof of concept (PoC) study, we examined whether administering a behavioral skills training package-discrete trial instruction (DTI) plus relaxation training-could increase social gaze duration in males with FXS...
August 28, 2018: Journal of Neurodevelopmental Disorders
Emma K Baker, David E Godler, Minh Bui, Chriselle Hickerton, Carolyn Rogers, Mike Field, David J Amor, Lesley Bretherton
BACKGROUND: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders. METHODS: This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment...
August 6, 2018: Journal of Neurodevelopmental Disorders
Rachel B Kay, Nicole A Gabreski, Jason W Triplett
BACKGROUND: Sensory processing deficits are frequently co-morbid with neurodevelopmental disorders. For example, patients with fragile X syndrome (FXS), caused by a silencing of the FMR1 gene, exhibit impairments in visual function specific to the dorsal system, which processes motion information. However, the developmental and circuit mechanisms underlying this deficit remain unclear. Recently, the superior colliculus (SC), a midbrain structure regulating head and eye movements, has emerged as a model for dissecting visual circuit development and function...
June 28, 2018: Journal of Neurodevelopmental Disorders
Laura Del Hoyo Soriano, Angela John Thurman, Danielle Jenine Harvey, W Ted Brown, Leonard Abbeduto
BACKGROUND: Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS. Because FXS is an X-linked condition, fewer females display FXS and females with FXS are more mildly affected than males, on average. However, there is a considerable variability in terms of severity of affectedness among females with FXS. The current study was designed to investigate potential genetic (FMRP level and ratio of affected to total chromosomes) and environmental factors (maternal psychological distress and closeness in the mother-child relationship) influencing the cognitive (fluid and crystallized intelligence) and behavioral (anxiety and withdrawal) phenotype of females with FXS...
June 20, 2018: Journal of Neurodevelopmental Disorders
Elizabeth I Pierpont, Rebekah L Hudock, Allison M Foy, Margaret Semrud-Clikeman, Mary Ella Pierpont, Susan A Berry, Ryan Shanley, Nathan Rubin, Katherine Sommer, Christopher L Moertel
BACKGROUND: Gene mutations within the RAS-MAPK signaling cascade result in Noonan syndrome (NS), neurofibromatosis type 1 (NF1), and related disorders. Recent research has documented an increased risk for social difficulties and features of autism spectrum disorder (ASD) among children with these conditions. Despite this emerging evidence, the neuropsychological characteristics associated with social skills deficits are not well understood, particularly for children with NS. METHODS: Parents of children with NS (n = 39), NF1 (n = 39), and unaffected siblings (n = 32) between the ages of 8 and 16 years were administered well-validated caregiver questionnaires assessing their child's social skills, language abilities, attention-deficit hyperactivity disorder (ADHD) symptoms and anxiety...
June 18, 2018: Journal of Neurodevelopmental Disorders
Marc Woodbury-Smith, Andrew D Paterson, Irene O'Connor, Mehdi Zarrei, Ryan K C Yuen, Jennifer L Howe, Ann Thompson, Morgan Parlier, Bridget Fernandez, Joseph Piven, Stephen W Scherer, Veronica Vieland, Peter Szatmari
BACKGROUND: Although several genetic variants for autism spectrum disorder (ASD) have now been identified, these largely occur sporadically or are de novo. Much less progress has been made in identifying inherited variants, even though the disorder itself is familial in the majority of cases. The objective of this study was to identify chromosomal regions that harbor inherited variants increasing the risk for ASD using an approach that examined both ASD and the broad autism phenotype (BAP) among a unique sample of extended pedigrees...
June 11, 2018: Journal of Neurodevelopmental Disorders
Matthew Schwede, Shailender Nagpal, Michael J Gandal, Neelroop N Parikshak, Karoly Mirnics, Daniel H Geschwind, Eric M Morrow
BACKGROUND: Genetic studies in autism have pinpointed a heterogeneous group of loci and genes. Further, environment may be an additional factor conferring susceptibility to autism. Transcriptome studies investigate quantitative differences in gene expression between patient-derived tissues and control. These studies may pinpoint genes relevant to pathophysiology yet circumvent the need to understand genetic architecture or gene-by-environment interactions leading to disease. METHODS: We conducted alternate gene set enrichment analyses using differentially expressed genes from a previously published RNA-seq study of post-mortem autism cerebral cortex...
June 1, 2018: Journal of Neurodevelopmental Disorders
Vanessa M Vogan, Kaitlyn E Francis, Benjamin R Morgan, Mary Lou Smith, Margot J Taylor
BACKGROUND: Autism spectrum disorder (ASD) is a pervasive neurodevelopmental disorder characterised by diminished social reciprocity and communication skills and the presence of stereotyped and restricted behaviours. Executive functioning deficits, such as working memory, are associated with core ASD symptoms. Working memory allows for temporary storage and manipulation of information and relies heavily on frontal-parietal networks of the brain. There are few reports on the neural correlates of working memory in youth with ASD...
June 1, 2018: Journal of Neurodevelopmental Disorders
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
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
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
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
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
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
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
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