1. Altschuler M, Sideridis G, Kala S, Warshawsky M, Gilbert R, Carroll D, Burger-Caplan R, Faja S. {{Measuring Individual Differences in Cognitive, Affective, and Spontaneous Theory of Mind Among School-Aged Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
The present study examined individual differences in theory of mind (ToM) among a group of 60 children (7-11 years-old) with autism spectrum disorder (ASD) and average intelligence. Using open-ended and structured tasks to measure affective ToM, cognitive ToM, and spontaneous social attribution, we explored the nature of ToM and assessed whether ToM predicts the phenotypic heterogeneity in ASD through structural equation modeling. Affective ToM uniquely predicted social symptom severity, whereas no ToM types predicted parent reported social functioning. Our findings suggest that differentiating among theoretical components is crucial for future ToM research in ASD, and ToM challenges related to reasoning about others’ emotions may be particularly useful in distinguishing children with worse social symptoms of ASD.
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2. Anderson C, Butt C. {{Young Adults on the Autism Spectrum: The Struggle for Appropriate Services}}. {J Autism Dev Disord}. 2018.
In the United States, young adults with an autism spectrum disorder (ASD) lose federally mandated supports upon leaving high school. To arrange adult services, families must prove their young adult’s eligibility and find competent service providers. National-level statistics regarding receipt of appropriate adult services are discouraging, but little is known about families’ lived experience with regard to services. Therefore, qualitative interviews focused on the search for and satisfaction with adult services were conducted with parents of young adults with ASD, then analyzed using the constant comparative method. Emergent themes included Bureaucracy and Fighting for Access, Staffing Issues, Program Suitability, and « Doing It Yourself. » The need to improve service access and delivery is discussed, as are issues facing specific ASD subgroups.
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3. Bell V, Dunne H, Zacharia T, Brooker K, Shergill S. {{Erratum: A symptom-based approach to treatment of psychosis in autism spectrum disorder in October 2017-ERRATUM}}. {BJPsych open}. 2018; 4(2): 61.
[This corrects the article DOI: 10.1192/bjo.2017.2.].
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4. Ben-Sasson A, Atun-Einy O, Yahav-Jonas G, Lev-On S, Gev T. {{Training Physical Therapists in Early ASD Screening}}. {J Autism Dev Disord}. 2018.
Physical therapists (PTs) are often one of the first professionals to evaluate children at risk. To examine the effect of an early screening training on pediatric PTs’: (1) knowledge of autism spectrum disorder (ASD), (2) clinical self-efficacy, and (3) identification of markers. Twenty-six PTs participated in a 2-day « Early ASD Screening » workshop. The ASD Knowledge and Self-Efficacy Questionnaire, and video case study analysis were completed pre- and post-training. Changes following training were significant for ASD knowledge related to etiology and learning performance, early signs, risk factors, and clinical self-efficacy. Rating the videoed case study after the training, was significantly more accurate than it was before. Training PTs is important for enhancing early identification of ASD.
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5. Berrillo-Batista S, Morales-Chacon LM, Baez-Martin MM, Gomez-Fernandez L, Vera-Cuesta H, Maragoto-Rizo C, Sanchez-Coroneaux A, Perez-Mayo L. {{[Functional connectivity derived from an electroencephalogram during non-REM sleep in autism spectrum disorders]}}. {Revista de neurologia}. 2018; 67(2): 41-9.
AIM: To know the differences in the patterns of functional connectivity, the topological characteristics of the network and the relationship between these latter and the interictal epileptiform anomalies in children with primary and secondary autism spectrum disorder (ASD). PATIENTS AND METHODS: A retrospective study was conducted with 27 children aged between 3 and 13 years diagnosed with ASD. Subjects were submitted to an electroencephalogram in a functional state of spontaneous sleep. Functional connectivity and the properties of the network were analysed using data obtained from the electroencephalogram during the N2 stage of non-REM sleep. The frequency of discharge of the interictal epileptiform activity (FDIEA) was determined and was correlated with the topological properties of the network. RESULTS: Synchronisation was diminished in patients with secondary ASD for the alpha frequency and increased for the theta and delta frequency compared with patients with primary ASD. Local alpha efficiency was higher in patients who presented interictal epileptiform activity. Additionally, in patients with secondary ASD there was a statistically significant positive and negative correlation between FDIEA and the topological properties of the network. CONCLUSIONS: Patients with secondary ASD display patterns of functional connectivity that are weaker for the alpha frequency and stronger for theta and delta than patients with primary ASD. In patients with secondary ASD, the interictal epileptiform activity is related to local and global connectivity of the network for the alpha and beta bands during non-REM sleep.
6. Bontinck C, Warreyn P, Demurie E, Bruyneel E, Boterberg S, Roeyers H. {{Social Interactions Between 24-Month-Old Children and Their Older Sibling with Autism Spectrum Disorder: Characteristics and Association with Social-Communicative Development}}. {J Autism Dev Disord}. 2018.
This study compared sibling interactions between 24-month-old children and their older sibling with ASD (high-risk; n = 24) with 24-month-old children and their typically developing older sibling (low-risk; n = 32). First, high-risk sibling pairs showed lower levels of positive behaviour and younger siblings of children with ASD imitated their older sibling less. Second, in the high-risk group positive interactions were positively associated with the youngest child’s language abilities. However, this association was no longer significant after controlling for language abilities at 14 months. Third, more total interactions in the high-risk group, both negative and positive, were associated with more ASD characteristics. Thus, early sibling interactions might reveal interesting information in light of the (atypical) developmental trajectories of younger siblings of children with ASD.
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7. Brodeur DA, Stewart J, Dawkins T, Burack JA. {{Utilitarian Attention by Children with Autism Spectrum Disorder on a Filtering Task}}. {J Autism Dev Disord}. 2018.
The findings are evidence that persons with ASD benefit more than typically developing (TD) persons from spatial framing cues in focusing their attention on a visual target. Participants were administered a forced-choice task to assess visual filtering. A target stimulus was presented on a screen and flanker stimuli were presented simultaneously with or after the target, with varying stimuli onset asynchronies (SOAs). Regardless of SOA, TD children showed the expected distracting effects with slower reaction times (RTs) when flankers were at closer distances from the target. However, children with ASD displayed shorter RTs in the conditions in which the stimuli were presented simultaneously or with a short SOA. These findings are interpreted as reflecting utilitarian attention among children with ASD.
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8. Carrick FR, Pagnacco G, Hankir A, Abdulrahman M, Zaman R, Kalambaheti ER, Barton DA, Link PE, Oggero E. {{The Treatment of Autism Spectrum Disorder With Auditory Neurofeedback: A Randomized Placebo Controlled Trial Using the Mente Autism Device}}. {Frontiers in neurology}. 2018; 9: 537.
Introduction: Children affected by autism spectrum disorder (ASD) often have impairment of social interaction and demonstrate difficulty with emotional communication, display of posture and facial expression, with recognized relationships between postural control mechanisms and cognitive functions. Beside standard biomedical interventions and psychopharmacological treatments, there is increasing interest in the use of alternative non-invasive treatments such as neurofeedback (NFB) that could potentially modulate brain activity resulting in behavioral modification. Methods: Eighty-three ASD subjects were randomized to an Active group receiving NFB using the Mente device and a Control group using a Sham device. Both groups used the device each morning for 45 minutes over a 12 week home based trial without any other clinical interventions. Pre and Post standard ASD questionnaires, qEEG and posturography were used to measure the effectiveness of the treatment. Results: Thirty-four subjects (17 Active and 17 Control) completed the study. Statistically and substantively significant changes were found in several outcome measures for subjects that received the treatment. Similar changes were not detected in the Control group. Conclusions: Our results show that a short 12 week course of NFB using the Mente Autism device can lead to significant changes in brain activity (qEEG), sensorimotor behavior (posturography), and behavior (standardized questionnaires) in ASD children.
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9. Durrleman S, Gavarro A. {{Editorial: Investigating Grammar in Autism Spectrum Disorders}}. {Front Psychol}. 2018; 9: 1004.
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10. Fernandez A, Dor E, Maurin T, Laure G, Menard ML, Drozd M, Poinso F, Bardoni B, Askenazy F, Thummler S. {{Exploration and characterisation of the phenotypic and genetic profiles of patients with early onset schizophrenia associated with autism spectrum disorder and their first-degree relatives: a French multicentre case series study protocol (GenAuDiss)}}. {BMJ Open}. 2018; 8(7): e023330.
INTRODUCTION: Early-onset schizophrenia (EOS) is a rare and severe condition. A higher rate of neurodevelopmental abnormalities, such as intellectual or communication impairments as well as attention deficit hyperactivity disorder, is observed in EOS compared with adult-onset schizophrenia. Early signs of autism spectrum disorders (ASD) are present in about 30% of patients. Genetic abnormalities, including copy number variations, are frequent in neurodevelopmental disorders and have been associated to ASD physiopathology. Implicated genes encode proteins involved in brain development, synapses morphology and plasticity and neurogenesis. In addition, an increasing number of genetic abnormalities are shared by EOS and ASD, underlying the neurodevelopmental hypothesis of EOS.The main objective of our study is to identify disease-causing genetic mutations in a cohort of patients affected by both EOS and ASD. Special attention will be paid to genes involved in neurodevelopmental pathways. METHODS AND ANALYSIS: We describe a multicentric study in a paediatric population. The study started in April 2014. Inclusion criteria are: age 7-22 years, diagnosis of EOS with comorbid ASD and IQ >50; Parents and siblings are also enrolled. We perform psychiatric assessments (Mini International Neuropsychiatric Interview, Kiddie Schedule for Affective Disorders and Schizophrenia -Present and Lifetime Version, Positive and Negative Syndrome Scale and Scale for the Assessment of Negative Symptoms) together with neurocognitive evaluations (IQ, Trail Making Test A/B and verbal fluency). Then, we study variants of the coding part of DNA (exome), using next-generation sequencing process on trio (mother, father and child). Bioinformatics tools (RVIS and PolyPhen-2) are used to prioritise disease-causing mutations in candidate genes. The inclusion period will end in November 2019. ETHICS AND DISSEMINATION: The study protocol was approved by the Local Ethic Committee and by the French National Agency for Medicines and Health Products Safety. All patients signed informed consent on enrolment in the study. Results of the present study should help to unravel the molecular pathology of EOS, paving the way for an early therapeutic intervention. TRIAL REGISTRATION NUMBER: NCT0256552; Pre-results.
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11. Ferretti F, Adornetti I, Chiera A, Nicchiarelli S, Valeri G, Magni R, Vicari S, Marini A. {{Time and Narrative: An Investigation of Storytelling Abilities in Children With Autism Spectrum Disorder}}. {Front Psychol}. 2018; 9: 944.
This study analyzed the relation between mental time travel (MTT) and the ability to produce a storytelling focusing on global coherence, which is one of the most notable characteristics of narrative discourse. As global coherence is strictly tied to the temporal sequence of the events narrated in a story, we hypothesized that the construction of coherent narratives would rely on the ability to mentally navigate in time. To test such a hypothesis, we investigated the relation between one component of MTT-namely, episodic future thinking (EFT)-and narrative production skills by comparing the narratives uttered by 66 children with high-functioning autism spectrum disorder (ASD) with those produced by 66 children with typical development. EFT was assessed by administering a task with minimal narrative demands, whereas storytelling production skills were assessed by administering two narrative production tasks that required children to generate future or past episodes with respect to the target stimuli. The results showed that EFT skills were impaired only in a subgroup of children with ASD and that such subgroup performed significantly worse on the narrative production task than ASD participants with high EFT skills and participants with typical development. The practical and theoretical implications of these findings are discussed.
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12. Heise C, Preuss JM, Schroeder JC, Battaglia CR, Kolibius J, Schmid R, Kreutz MR, Kas MJH, Burbach JPH, Boeckers TM. {{Heterogeneity of Cell Surface Glutamate and GABA Receptor Expression in Shank and CNTN4 Autism Mouse Models}}. {Front Mol Neurosci}. 2018; 11: 212.
Autism spectrum disorder (ASD) refers to a large set of neurodevelopmental disorders, which have in common both repetitive behavior and abnormalities in social interactions and communication. Interestingly, most forms of ASD have a strong genetic contribution. However, the molecular underpinnings of this disorder remain elusive. The SHANK3 gene (and to a lesser degree SHANK2) which encode for the postsynaptic density (PSD) proteins SHANK3/SHANK2 and the CONTACTIN 4 gene which encodes for the neuronal glycoprotein CONTACTIN4 (CNTN4) exhibit mutated variants which are associated with ASD. Like many of the other genes associated with ASD, both SHANKs and CNTN4 affect synapse formation and function and are therefore related to the proper development and signaling capability of excitatory and inhibitory neuronal networks in the adult mammal brain. In this study, we used mutant/knock-out mice of Shank2 (Shank2(-/-)), Shank3 (Shank3alphabeta(-/-)), and Cntn4 (Cntn4(-/-)) as ASD-models to explore whether these mice share a molecular signature in glutamatergic and GABAergic synaptic transmission in ASD-related brain regions. Using a biotinylation assay and subsequent western blotting we focused our analysis on cell surface expression of several ionotropic glutamate and GABA receptor subunits: GluA1, GluA2, and GluN1 were analyzed for excitatory synaptic transmission, and the alpha1 subunit of the GABAA receptor was analyzed for inhibitory synaptic transmission. We found that both Shank2(-/-) and Shank3alphabeta(-/-) mice exhibit reduced levels of several cell surface glutamate receptors in the analyzed brain regions-especially in the striatum and thalamus-when compared to wildtype controls. Interestingly, even though Cntn4(-/-) mice also show reduced levels of some cell surface glutamate receptors in the cortex and hippocampus, increased levels of cell surface glutamate receptors were found in the striatum. Moreover, Cntn4(-/-) mice do not only show brain region-specific alterations in cell surface glutamate receptors but also a downregulation of cell surface GABA receptors in several of the analyzed brain regions. The results of this study suggest that even though mutations in defined genes can be associated with ASD this does not necessarily result in a common molecular phenotype in surface expression of glutamatergic and GABAergic receptor subunits in defined brain regions.
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13. Kang-Yi CD, Grinker RR, Beidas R, Agha A, Russell R, Shah SB, Shea K, Mandell DS. {{Influence of Community-Level Cultural Beliefs about Autism on Families’ and Professionals’ Care for Children}}. {Transcultural psychiatry}. 2018: 1363461518779831.
This qualitative study aimed to understand how community-level cultural beliefs affect families’ and professionals’ care for children with autism and developmental delays in immigrant communities, as a first step towards promoting early identification and access to early intervention services. The study was part of the larger New York City (NYC) Korean Community Autism Project, which was designed to identify strategies to increase awareness of autism and reduce delays in treatment seeking within the NYC Korean-American community. Our study elicited early childcare workers’ and church leaders’ beliefs about autism and developmental disorders and, in particular, early intervention. We also elicited responses to newly developed outreach materials targeting this community. An inductive approach was used to identify concepts and categories associated with autism. Our study confirmed that discomfort, stigma and discrimination are the prevailing community attitudes toward autism and developmental disorders in the Korean-American community. Families’ and professionals’ understanding of autism and their care for children are affected by these community beliefs. Approaching immigrant communities with general information about child development and education rather than directly talking about autism and developmental disorders is likely to engage more families and professionals in need for diagnostic evaluation and early intervention for autism.
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14. Kuriakose S, Filton B, Marr M, Okparaeke E, Cervantes P, Siegel M, Horwitz S, Havens J. {{Does an Autism Spectrum Disorder Care Pathway Improve Care for Children and Adolescents with ASD in Inpatient Psychiatric Units?}}. {J Autism Dev Disord}. 2018.
Youth with autism spectrum disorder (ASD) are psychiatrically hospitalized at high rates. Though specialized psychiatric units are effective, few specialized units exist. The ASD Care Pathway (ASD-CP) was developed as a scalable approach to improving care in general psychiatric units through staff training and a package of autism-specific intervention strategies. An evaluation of the effectiveness of the ASD-CP in a public hospital child psychiatric service compared 18 months (n = 17) versus 18 months (n = 20) post implementation. Average length of hospital stay decreased 40% (22.4-13.4 days) and use of crisis interventions decreased 77% (holds/restraints; 0.65/day to 0.15/day), though each result only approached statistical significance (p = 0.07; 0.057). This study provides preliminary evidence for improved outcomes after implementation of an ASD-CP.
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15. Leader G, Grennan S, Chen JL, Mannion A. {{An Investigation of Gelotophobia in Individuals with a Diagnosis of High-Functioning Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Samson et al. (Journal of Autism and Developmental Disorders 41:475-483, 2011) conducted the first empirical investigation examining the fear of being laughed at (gelotophobia) and its prevalence in individuals with high-functioning autism spectrum disorder (hfASD). The present research examined gelotophobia in relation to social functioning, perceived social support, life satisfaction and quality of life (QoL) in individuals with hfASD, including past experiences of bullying and the presence of comorbid psychopathology. Participants were 103 adults with a clinical diagnosis of hfASD and 137 typically developing controls. Individuals with hfASD presented with higher rates of gelotophobia symptomatology in comparison to controls (87.4 vs. 22.6% respectively). It was also found that social functioning, past experiences of bullying, anxiety and life satisfaction were predictors of gelotophobia amongst individuals with hfASD.
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16. Luyster RJ, Arunachalam S. {{Brief Report: Learning Language Through Overhearing in Children with ASD}}. {J Autism Dev Disord}. 2018.
We explored whether children with autism spectrum disorder (ASD) learn new nouns from overheard speech. Thirteen children (4-5 years) with ASD participated in an Addressed condition, in which they were directly taught a novel label (e.g., toma) for one of three novel objects, and an Overheard condition, in which the objects and label were presented in a conversation between two adults. In both conditions, children were then asked to identify the labeled object (e.g., « find the toma »). Children selected the target novel object at rates above chance in the Addressed condition, and of critical importance, they also did so in the Overheard condition. This suggests that, like TD children, children with ASD may learn from language that is not directed to them.
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17. Marsack CN, Hopp FP. {{Informal Support, Health, and Burden Among Parents of Adult Children With Autism}}. {The Gerontologist}. 2018.
Background and Objectives: Many adults with autism spectrum disorders require lifelong reliance on caregiver support. As these caregivers age and experience health challenges, social support can be critical. This study seeks to understand if caregiver health moderates the relationship between informal social support and caregiver burden. Research Design and Methods: A total of 320 parents (age 50+ years) of adult children diagnosed with ASD were recruited from autism organizations and support groups and completed a web-based survey. Separate moderation analyses were used to determine if caregiver health was moderating the relationship between informal social support and composite caregiver burden, as well as the separate domains of developmental, time dependence, emotional burden, and impact of caregiving on finances. For each analysis, perceptions of available informal social support were the independent variable, composite and domains of caregiver burden were dependent variables, and parents’ self-reported general health was the moderating variable. Results: Caregiver health had a statistically significant moderating effect when predicting the relationships between informal social support and composite caregiver burden, as well as time dependence burden and impact of caregiving on finances. Discussion and Implications: Increased attention should be focused on supporting the current and future needs of both aging caregivers and their adult children with ASD. Future research on the dynamics of social support, health, and burden is also urgently needed to address the growing number of aging caregivers of adults diagnosed with ASD.
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18. Modi ME, Brooks JM, Guilmette ER, Beyna M, Graf R, Reim D, Schmeisser MJ, Boeckers TM, O’Donnell P, Buhl DL. {{Hyperactivity and Hypermotivation Associated With Increased Striatal mGluR1 Signaling in a Shank2 Rat Model of Autism}}. {Front Mol Neurosci}. 2018; 11: 107.
Mutations in the SHANK family of genes have been consistently identified in genetic and genomic screens of autism spectrum disorder (ASD). The functional overlap of SHANK with several other ASD-associated genes suggests synaptic dysfunction as a convergent mechanism of pathophysiology in ASD. Although many ASD-related mutations result in alterations to synaptic function, the nature of those dysfunctions and the consequential behavioral manifestations are highly variable when expressed in genetic mouse models. To investigate the phylogenetic conservation of phenotypes resultant of Shank2 loss-of-function in a translationally relevant animal model, we generated and characterized a novel transgenic rat with a targeted mutation of the Shank2 gene, enabling an evaluation of gene-associated phenotypes, the elucidation of complex behavioral phenotypes, and the characterization of potential translational biomarkers. The Shank2 loss-of-function mutation resulted in a notable phenotype of hyperactivity encompassing hypermotivation, increased locomotion, and repetitive behaviors. Mutant rats also expressed deficits in social behavior throughout development and in the acquisition of operant tasks. The hyperactive phenotype was associated with an upregulation of mGluR1 expression, increased dendritic branching, and enhanced long-term depression (LTD) in the striatum but opposing morphological and cellular alterations in the hippocampus (HP). Administration of the mGluR1 antagonist JNJ16259685 selectively normalized the expression of striatally mediated repetitive behaviors and physiology but had no effect on social deficits. Finally, Shank2 mutant animals also exhibited alterations in electroencephalography (EEG) spectral power and event-related potentials, which may serve as translatable EEG biomarkers of synaptopathic alterations. Our results show a novel hypermotivation phenotype that is unique to the rat model of Shank2 dysfunction, in addition to the traditional hyperactive and repetitive behaviors observed in mouse models. The hypermotivated and hyperactive phenotype is associated with striatal dysfunction, which should be explored further as a targetable mechanism for impairment in ASD.
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19. Nevison C, Blaxill M, Zahorodny W. {{California Autism Prevalence Trends from 1931 to 2014 and Comparison to National ASD Data from IDEA and ADDM}}. {J Autism Dev Disord}. 2018.
Time trends in U.S. autism prevalence from three ongoing datasets [Individuals with Disabilities Education Act, Autism and Developmental Disabilities Monitoring Network, and California Department of Developmental Services (CDDS)] are calculated using two different methods: (1) constant-age tracking of 8 year-olds and (2) age-resolved snapshots. The data are consistent across methods in showing a strong upward trend over time. The prevalence of autism in the CDDS dataset, the longest of the three data records, increased from 0.001% in the cohort born in 1931 to 1.2% among 5 year-olds born in 2012. This increase began around ~ 1940 at a rate that has gradually accelerated over time, including notable change points around birth years 1980, 1990 and, most recently, 2007.
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20. Orsmond GI, Fulford D. {{Adult Siblings Who Have a Brother or Sister with Autism: Between-Family and Within-Family Variations in Sibling Relationships}}. {J Autism Dev Disord}. 2018.
Prior research on the sibling relationship in the context of autism spectrum disorder (ASD) has included only one sibling per family. We used multi-level modeling to examine aspects of the sibling relationship in 207 adults who have a brother or sister with ASD from 125 families, investigating variability in sibling relationship quality and pessimism within and between families. We found that there was greater variability in aspects of the sibling relationship with the brother or sister with ASD within families than between families. Sibling individual-level factors were associated with positive affect in the sibling relationship, while family-level factors were associated with the sibling’s pessimism about their brother or sister’s future. The findings illustrate the unique experiences of siblings within families.
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21. Sagiv SK, Harris MH, Gunier RB, Kogut KR, Harley KG, Deardorff J, Bradman A, Holland N, Eskenazi B. {{Erratum: « Prenatal Organophosphate Pesticide Exposure and Traits Related to Autism Spectrum Disorders in a Population Living in Proximity to Agriculture »}}. {Environmental health perspectives}. 2018; 126(7): 079001.
[This corrects the article DOI: 10.1289/EHP2580.].
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22. Sauna-Aho O, Bjelogrlic-Laakso N, Siren A, Arvio M. {{Signs indicating dementia in Down, Williams and Fragile X syndromes}}. {Molecular genetics & genomic medicine}. 2018.
BACKGROUND: Intellectual disability (ID) and dementia reflect disturbed cortical function during and after developmental age, respectively. Due to the wide heterogeneity of ID population the decline in cognitive and adaptive skills may be different in distinct genetic subgroups. METHODS: Using the British Present Psychiatric State-learning Disabilities assessment (PPS-LD) questionnaire the dementia signs were screened in 62, 22 and 44 individuals (> 35 year of age) with Down (DS, OMIM number 190685), Williams (WS, OMIM number, 194050), and Fragile X syndrome (FXS, OMIM number 309550), respectively. The median age of those with FXS (59 years) was higher than of those with DS (50 years) and WS (53 years). RESULTS: Most study participants with DS (80%) and FXS (89%) were or had been moderately or severely intellectually disabled while most participants with WS (73%) were or had been mildly or moderately disabled at adolescent age. The adolescent (premorbid) level of ID did not correlate with the dementia score. The median scores were 11/27, 1/27, and 0/27 in DS, WS, and FXS subgroups, respectively. Dementia that was confirmed by brain imaging, manifested as Alzheimer disease and as moya-moya disease associated vascular dementia in DS and as vascular dementia in WS. CONCLUSIONS: This survey suggests that the risk of dementia varies depending on the cause of ID and that the severity of ID in adolescence does not predict the development of dementia at a later age. Consequently, the ID and dementia should be understood as separate clinical entities that need to be taken into account in the health management of intellectually disabled people. This is important for the arrangement of appropriate and timely interventions, which can be expected to delay the need for institutionalization.
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23. Siebes R, Muntjewerff JW, Staal W. {{Differences of Symptom Distribution Across Adult Age in High Functioning Individuals on the Autism Spectrum Using Subscales of the Autism Spectrum Quotient}}. {J Autism Dev Disord}. 2018.
Little is known about the distribution of symptoms of Autism Spectrum Disorder (ASD) across the lifespan. In this cross-sectional study, we examined differences between subscales of the Autism Spectrum Quotient (AQ) between different age groups. 654 Subjects referred to an outpatient University Clinic with specialized expertise in ASD were included. Data collection, including self-report and report by spouses, was performed from 2008 to 2014. Results show no significant differences between the different age groups. AQ scores based on self-report corresponded remarkably well with those from their spouses. In conclusion, the main traits of an ASD appear stable between the different age groups. Also, the results show that using the AQ, patients have largely the same appreciation of symptoms as their spouses.
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24. Sysoeva OV, Constantino JN, Anokhin AP. {{Event-related potential (ERP) correlates of face processing in verbal children with autism spectrum disorders (ASD) and their first-degree relatives: a family study}}. {Mol Autism}. 2018; 9: 41.
Background: Inherited abnormalities of perception, recognition, and attention to faces have been implicated in the etiology of autism spectrum disorders (ASD) including abnormal components of event-related brain potentials (ERP) elicited by faces. Methods: We examined familial aggregation of face processing ERP abnormalities previously implicated in ASD in 49 verbal individuals with ASD, 36 unaffected siblings (US), 18 unaffected fathers (UF), and 53 unrelated controls (UC). The ASD, US, and UC groups ranged in age from 12 to 21 years, the UF group ranged in age from 30 to 56 years. ERP responses to images of upright and inverted faces and houses were analyzed under disparate EEG reference schemes. Results: Face-sensitive features of N170 and P1 were readily observed in all groups. Differences between ASD and control groups depended upon the EEG reference scheme. Notably, the superiority of face over object for N170 latency was attenuated in ASD subjects, but not their relatives; this occurred exclusively with the average reference. The difference in N170 amplitude between inverted and upright faces was reduced in both ASD and US groups relative to UC, but this effect was significant only with the vertex reference. Furthermore, similar group differences were observed for both inverted faces and inverted houses, suggesting a lack of face specificity for the attenuation of the N170 inversion effect in ASD. Conclusion: The present findings refine understanding of face processing ERPs in ASD. These data provide only modest evidence for highly-selective ASD-sensitive ERP features, and underscore the sensitivity of these biomarkers to ERP reference scheme. These schemes have varied across published studies and must be accounted for in future studies of the relationship between these commonly acquired ERP characteristics, genotype, and ASD.
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25. Teh EJ, Yap MJ, Rickard Liow SJ. {{Emotional Processing in Autism Spectrum Disorders: Effects of Age, Emotional Valence, and Social Engagement on Emotional Language Use}}. {J Autism Dev Disord}. 2018.
Children with autism spectrum disorders (ASD) show deficits in reporting others’ emotions (Lartseva et al. in Front Hum Neurosci 8:991, 2015) and in deriving meaning in social contexts (Klin et al. in Handbook of autism and pervasive developmental disorders, Wiley, Hoboken, 2005). However, researchers often use stimuli that conflate salient emotional and social information. Using a matched-pairs design, the impact of emotional and social information on emotional language in pre-school and school-age children, with and without ASD, was assessed with a picture description task comprising rated stimuli from the Pictures with Social Contexts and Emotional Scenes database (Teh et al. in Behav Res Methods, https://doi.org/10.3758/s13428-017-0947-x , 2017). Results showed both groups with ASD produced fewer emotional terms than typically developing children, but the effects were moderated by valence, social engagement, and age. Implications for theory and clinical practice are discussed.
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26. Van Herwegen J, Ashworth M, Palikara O. {{Parental views on special educational needs provision: Cross-syndrome comparisons in Williams Syndrome, Down Syndrome, and Autism Spectrum Disorders}}. {Res Dev Disabil}. 2018; 80: 102-11.
BACKGROUND: The current study examined parents’ views about their child’s educational provision for children with Williams syndrome (WS), Down syndrome (DS), and Autism Spectrum Disorders (ASD). AIMS: This cross-syndrome comparison explored the specific and general difficulties that parents of children with neurodevelopmental disorders experience about their child’s educational provision. METHODS AND PROCEDURES: Parents of children aged 4-18;11 years old, including 99 with WS, 88 with DS, and 82 with ASD completed a survey. OUTCOMES AND RESULTS: Children with DS were more likely to access mainstream settings and 1-to-1 support compared to those with WS and ASD. Parental satisfaction was lowest for those with ASD but all parents mentioned concerns about professionals’ knowledge of how to support children with special educational needs and disabilities (SEND). There were also group differences for access to specialist support but overall access to occupational therapy and mental health was low. CONCLUSIONS AND IMPLICATIONS: In contrast to previous studies, educational provision and satisfaction with educational provision are syndrome-specific. These results also highlight the need for training and raising awareness about the specific needs of children with neurodevelopmental disorders. In addition, our findings suggest improved communication between parents and the school is required about the type of support children with SEND are receiving.
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27. Zhao XN, Usdin K. {{FAN1 protects against repeat expansions in a Fragile X mouse model}}. {DNA repair}. 2018; 69: 1-5.
The Fragile X-related disorders (FXDs) are members of a large group of human neurological or neurodevelopmental conditions known as the Repeat Expansion Diseases. The mutation responsible for all of these diseases is an expansion in the size of a disease-specific tandem repeat tract. However, the underlying cause of this unusual mutation is unknown. Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) in the vicinity of the FAN1 (MIM* 613534) gene that are associated with variations in the age at onset of a number of Repeat Expansion Diseases. FAN1 is a nuclease that has both 5′-3′ exonuclease and 5′ flap endonuclease activities. Here we show in a model for the FXDs that Fan1(-/-) mice have expansions that, in some tissues including brain, are 2-3 times as extensive as they are in Fan1(+/+) mice. However, no effect of the loss of FAN1 was apparent for germ line expansions. Thus, FAN1 plays an important role in protecting against somatic expansions but is either not involved in protecting against intergenerational repeat expansions or is redundant with other related enzymes. However, since loss of FAN1 results in increased expansions in brain and other somatic tissue, FAN1 polymorphisms may be important disease modifiers in those Repeat Expansion Diseases in which somatic expansion contributes to age at onset or disease severity.
