1. Bou Khalil R. {{Is insulin growth factor-1 the future for treating autism spectrum disorder and/or schizophrenia?}}. {Med Hypotheses};2017 (Feb);99:23-25.
To date, no curative psychopharmacologic treatment exists for the core symptoms of autism spectrum disorder (ASD) as well as for schizophrenia. Bumatenide is a specific antagonist of the first isoform of the Na-K-Cl cotransporter (NKCC1). It is usually used as a diuretic but may also promote a decrease in intraneuronal chloride ion concentration leading to hyperpolarization in neuronal membrane and subsequent decrease in neuronal hyperexcitability. This physiologic effect has been considered to be behind the relative efficacy of bumetanide in improving symptoms of ASD and, to a lesser extent, schizophrenia. However, insulin growth factor-1 (IGF-1) shows the same physiologic effect. In addition, it may improve brain network dysconnectivity which is known to be an important neurobiological feature in ASD and schizophrenia. IGF-1 has started to prove its efficacy in improving symptoms of children with Rett syndrome, a genetic disorder that shares several clinical similarities with ASD. IGF-1 may also improve oxytocin secretion through the enhancement of the transient potential receptor V2 channel function. Accordingly, IGF-1 should be studied as a potential treatment of ASD and other mental disorders characterized with brain dysconnectivity such as schizophrenia.
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2. Brown HK, Cobigo V, Lunsky Y, Vigod S. {{Postpartum Acute Care Utilization Among Women with Intellectual and Developmental Disabilities}}. {J Womens Health (Larchmt)};2017 (Jan 24)
BACKGROUND: Women with intellectual and developmental disabilities have high rates of pregnancy complications. However, their postpartum health is largely unknown. We compared risks for postpartum hospital admissions and emergency department visits among women with and without intellectual and developmental disabilities. METHODS: We conducted a population-based study using linked Ontario (Canada) health and social services administrative data to identify singleton live births to women with (N = 3,803) and without intellectual and developmental disabilities (N = 378,313) (2002-2012). Outcomes were hospital admissions and emergency department visits in the 42 days following delivery discharge. We classified these as medical or psychiatric depending on the recorded primary discharge diagnosis. RESULTS: Women with intellectual and developmental disabilities, compared to those without, had increased risk for postpartum hospital admissions overall (2.4% vs. 1.2%; adjusted hazard ratios [aHR]: 1.76, 95% confidence interval [CI]: 1.43-2.17) and for psychiatric reasons (0.8% vs. 0.1%; aHR: 10.46, 95% CI: 6.96-15.70), but not for medical reasons. They also had increased risk for postpartum emergency department visits overall (16.6% vs. 7.9%; aHR: 1.85, 95% CI: 1.71-2.01) and for both medical (15.8% vs. 7.8%; aHR: 1.80, 95% CI: 1.66-1.96) and psychiatric reasons (1.3% vs. 0.1%; aHR: 5.66, 95% CI: 4.17-7.69). CONCLUSIONS: High rates of postpartum hospital admissions and emergency department visits among women with intellectual and developmental disabilities demonstrate that this group may be vulnerable to acute complications or inadequate preventive care after childbirth. Providing enhanced health services during the postpartum period, in the form of longer or more frequent visits or specialized supports, could optimize their outcomes following delivery.
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3. Burghardt GM. {{Snakes, evolution, behavior systems, and autism spectrum disorder: Comment on: « Implications of the idea of neurodiversity for understanding the origins of developmental disorders » by Nobuo Masataka}}. {Phys Life Rev};2017 (Jan 17)
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4. Fassbender C, Muhkerjee P, Schweitzer JB. {{Minimizing Noise in Pediatric Task-Based functional MRI; Adolescents with Developmental Disabilities and Typical Development}}. {Neuroimage};2017 (Jan 24)
Functional Magnetic Resonance Imaging (fMRI) represents a powerful tool with which to examine brain functioning and development in typically developing pediatric groups as well as children and adolescents with clinical disorders. However, fMRI data can be highly susceptible to misinterpretation due to the effects of excessive levels of noise, often related to head motion. Imaging children, especially with developmental disorders, requires extra considerations related to hyperactivity, anxiety and the ability to perform and maintain attention to the fMRI paradigm. We discuss a number of methods that can be employed to minimize noise, in particular movement-related noise. To this end we focus on strategies prior to, during and following the data acquisition phase employed primarily within our own laboratory. We discuss the impact of factors such as experimental design, screening of potential participants and pre-scan training on head motion in our adolescents with developmental disorders and typical development. We make some suggestions that may minimize noise during data acquisition itself and finally we briefly discuss some current processing techniques that may help to identify and remove noise in the data. Many advances have been made in the field of pediatric imaging, particularly with regard to research involving children with developmental disorders. Mindfulness of issues such as those discussed here will ensure continued progress and greater consistency across studies.
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5. Fenning RM, Baker JK, Baucom BR, Erath SA, Howland MA, Moffitt J. {{Electrodermal Variability and Symptom Severity in Children with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jan 24)
Associations between variability in sympathetic nervous system arousal and individual differences in symptom severity were examined for children with autism spectrum disorder (ASD). Thirty-four families participated in a laboratory visit that included continuous measurement of electrodermal activity (EDA) during a battery of naturalistic and structured parent-child, child alone, and direct testing tasks. Multiple indices of EDA were considered. Greater variability in EDA was associated with higher levels of ASD symptoms, with findings generally consistent across tasks. Intellectual functioning did not moderate the relation between EDA and ASD symptoms. Sympathetic arousal tendencies may represent an important individual difference factor for this population. Future directions and conceptualizations of EDA are discussed.
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6. Giuliano A, Saviozzi I, Brambilla P, Muratori F, Retico A, Calderoni S. {{The effect of age, sex and clinical features on the volume of Corpus Callosum in pre-schoolers with Autism Spectrum Disorder: a case-control study}}. {Eur J Neurosci};2017 (Jan 23)
A growing body of literature has identified volume alterations of the corpus callosum (CC) in subjects with autism spectrum disorders (ASD). However, to date very few investigations have been conducted on preschool-age ASD children. This study aims to compare the volume of CC and its sub-regions between pre-schoolers with ASD and controls (CON) and to examine their relationship to demographic and clinical variables (sex, age, non-verbal IQ -NVIQ-, expressive non-echolalic language, emotional and behavioural problems, and autism severity). The volume of CC of 40 pre-schoolers with ASD (20 males and 20 females; mean age: 49+/-12 months; mean NVIQ: 73+/-22) and 40 sex-, age-, and NVIQ-matched CON subjects (20 M and 20 F; mean age: 49+/-14 months; mean NVIQ: 73+/-23) were quantified applying the FreeSurfer automated parcellation software on Magnetic Resonance images. No significant volumetric differences in CC total volume and in its sub-regions between ASD and CON were found using total brain volume as a covariate. Analogously, absence of CC volumetric differences was evident when boys and girls with ASD were compared to their matched controls. The CC total volume of younger ASD male subjects was found significantly larger with respect to matched CON, which is consistent with the atypical growth trajectory widely reported in these young children. The CC total volume was negatively correlated with autism severity, whereas no association between CC volume and other clinical variables was detected. If replicated, the indirect relationship between CC volume and autism severity suggests the involvement of CC in core ASD symptoms. This article is protected by copyright. All rights reserved.
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7. Hwang YT, Dudding T, Aliaga SM, Arpone M, Francis D, Li X, Slater HR, Rogers C, Bretherton L, du Sart D, Heard R, Godler DE. {{Erratum: Hwang Y.T. et al. Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia. Genes 2016, 7, 68}}. {Genes (Basel)};2017 (Jan 24);8(2)
n/a.
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8. Kuriakose S, Lahiri U. {{Design of a Physiology-sensitive VR-based Social Communication Platform for Children with Autism}}. {IEEE Trans Neural Syst Rehabil Eng};2016 (Sep 27)
Individuals with autism are often characterized by impairments in communication, reciprocal social interaction and explicit expression of their affective states. In conventional techniques, a therapist adjusts the intervention paradigm by monitoring the affective state e.g., anxiety of these individuals for effective floor-time-therapy. Conventional techniques, though powerful, are observation-based and face resource limitations. Technology-assisted systems can provide a quantitative, individualized rehabilitation platform. Presently-available systems are designed primarily to chain learning via aspects of one’s performance alone restricting individualization. Specifically, these systems are not sensitive to one’s anxiety. Our presented work seeks to bridge this gap by developing a novel VR-based interactive system with Anxiety-Sensitive adaptive technology. Specifically, such a system is capable of objectively identifying and quantifying one’s anxiety level from real-time biomarkers, along with performance metrics. In turn it can adaptively respond in an individualized manner to foster improved social communication skills. In our present research, we have used Virtual Reality (VR) to design a proof-of-concept application that exposes participants to social tasks of varying challenges. Results of a preliminary usability study indicate the potential of our VR-based Anxiety-Sensitive system to foster improved task performance, thereby serving as a potent complementary tool in the hands of therapist.
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9. Mansilla A, Chaves-Sanjuan A, Campillo NE, Semelidou O, Martinez-Gonzalez L, Infantes L, Gonzalez-Rubio JM, Gil C, Conde S, Skoulakis EM, Ferrus A, Martinez A, Sanchez-Barrena MJ. {{Interference of the complex between NCS-1 and Ric8a with phenothiazines regulates synaptic function and is an approach for fragile X syndrome}}. {Proc Natl Acad Sci U S A};2017 (Jan 24)
The protein complex formed by the Ca2+ sensor neuronal calcium sensor 1 (NCS-1) and the guanine exchange factor protein Ric8a coregulates synapse number and probability of neurotransmitter release, emerging as a potential therapeutic target for diseases affecting synapses, such as fragile X syndrome (FXS), the most common heritable autism disorder. Using crystallographic data and the virtual screening of a chemical library, we identified a set of heterocyclic small molecules as potential inhibitors of the NCS-1/Ric8a interaction. The aminophenothiazine FD44 interferes with NCS-1/Ric8a binding, and it restores normal synapse number and associative learning in a Drosophila FXS model. The synaptic effects elicited by FD44 feeding are consistent with the genetic manipulation of NCS-1. The crystal structure of NCS-1 bound to FD44 and the structure-function studies performed with structurally close analogs explain the FD44 specificity and the mechanism of inhibition, in which the small molecule stabilizes a mobile C-terminal helix inside a hydrophobic crevice of NCS-1 to impede Ric8a interaction. Our study shows the drugability of the NCS-1/Ric8a interface and uncovers a suitable region in NCS-1 for development of additional drugs of potential use on FXS and related synaptic disorders.
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10. Manwaring SS, Mead DL, Swineford L, Thurm A. {{Modelling gesture use and early language development in autism spectrum disorder}}. {Int J Lang Commun Disord};2017 (Jan 24)
BACKGROUND: Nonverbal communication abilities, including gesture use, are impaired in autism spectrum disorder (ASD). However, little is known about how common gestures may influence or be influenced by other areas of development. AIMS: To examine the relationships between gesture, fine motor and language in young children with ASD compared with a comparison group using multiple measures and methods in a structural equation modelling framework. METHODS & PROCEDURES: Participants included 110 children with ASD and a non-ASD comparison group of 87 children (that included children with developmental delays (DD) or typical development (TD)), from 12 to 48 months of age. A construct of gesture use as measured by the Communication and Symbolic Behavior Scales-Developmental Profile Caregiver Questionnaire (CQ) and the Autism Diagnostic Observation Schedule (ADOS), as well as fine motor from the Mullen Scales of Early Learning and Vineland Adaptive Behavior Scales-II (VABS-II) was examined using second-order confirmatory factor analysis (CFA). A series of structural equation models then examined concurrent relationships between the aforementioned latent gesture construct and expressive and receptive language. A series of hierarchical regression analyses was run in a subsample of 36 children with ASD with longitudinal data to determine how gesture factor scores predicted later language outcomes. OUTCOMES & RESULTS: Across study groups, the gesture CFA model with indicators of gesture use from both the CQ (parent-reported) and ADOS (direct observation), and measures of fine motor provided good fit with all indicators significantly and strongly loading onto one gesture factor. This model of gesture use, controlling for age, was found to correlate strongly with concurrent expressive and receptive language. The correlations between gestures and concurrent language were similar in magnitude in both the ASD and non-ASD groups. In the longitudinal subsample of children with ASD, gestures at time 1 predicted later receptive (but not expressive) language outcomes on the VABS-II, after controlling for nonverbal cognition, ASD severity, age and time 1 language. CONCLUSIONS & IMPLICATIONS: This study extends research on the relationship between nonverbal communication and language by supporting the idea of an underlying construct of gesture use that includes fine motor ability and relates to language in young children with ASD. This further supports theories espousing developmental influences of motor and nonverbal communication strategies as important in early language learning.
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11. Morrison KE, Pinkham AE, Penn DL, Kelsven S, Ludwig K, Sasson NJ. {{Distinct profiles of social skill in adults with autism spectrum disorder and schizophrenia}}. {Autism Res};2017 (Jan 23)
Overlapping social impairments in Autism Spectrum Disorder (ASD) and Schizophrenia (SCZ) contributed to decades of diagnostic confusion that continues to this day in some clinical settings. The current study provides the first direct and detailed comparison of social behavior in the two disorders by identifying profiles of social skill in adults with ASD (n = 54), SCZ (n = 54), and typically developing (TD) controls (n = 56) during a real-world social interaction. ASD and SCZ groups exhibited poorer social skill, both overall and on most discrete abilities, relative to the TD group. Direct comparison of ASD to SCZ revealed distinct behavioral profiles, with ASD uniquely characterized by fewer interactive behaviors, and SCZ characterized by greater impaired gaze and flat/inappropriate affective responses. Additionally, IQ was associated with both overall social skill and many discrete social skills in SCZ, but was largely unrelated to social skill in ASD. These results indicate that overlapping social deficits in ASD and SCZ are comprised of both shared and distinct social skill impairments. The largest distinctions-reduced social reciprocity but better expressivity in ASD relative to SCZ, and a greater role of IQ in social skill for SCZ than ASD-highlight disorder-specific features that can improve etiological understanding, diagnostic differentiation, and treatment strategies. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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12. Postorino V, Scahill L, De Peppo L, Fatta LM, Zanna V, Castiglioni MC, Gillespie S, Vicari S, Mazzone L. {{Investigation of Autism Spectrum Disorder and Autistic Traits in an Adolescent Sample with Anorexia Nervosa}}. {J Autism Dev Disord};2017 (Jan 24)
This study aimed to examine the presence of Autism Spectrum Disorder (ASD) in a sample of female adolescents with Anorexia Nervosa (AN) during the acute phase of illness. We also compare the level of autistic traits, social perception skills and obsessive-compulsive symptoms in four groups: AN, ASD, and two gender- and age-matched control groups. Of the 30 AN participants, only three scored above the conventional ADOS-2 threshold for ASD. The AN participants were similar to their controls on autistic trait measures, and to the ASD group on obsessive-compulsive measures, and on theory of mind ability and affect recognition measures. Further longitudinal studies are needed in order to determine the association between these conditions.
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13. Reis VN, Kitajima JP, Tahira AC, Feio-Dos-Santos AC, Fock RA, Lisboa BC, Simoes SN, Krepischi AC, Rosenberg C, Lourenco NC, Passos-Bueno MR, Brentani H. {{Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder}}. {PLoS One};2017;12(1):e0170386.
It has been proposed that copy number variations (CNVs) are associated with increased risk of autism spectrum disorder (ASD) and, in conjunction with other genetic changes, contribute to the heterogeneity of ASD phenotypes. Array comparative genomic hybridization (aCGH) and exome sequencing, together with systems genetics and network analyses, are being used as tools for the study of complex disorders of unknown etiology, especially those characterized by significant genetic and phenotypic heterogeneity. Therefore, to characterize the complex genotype-phenotype relationship, we performed aCGH and sequenced the exomes of two affected siblings with ASD symptoms, dysmorphic features, and intellectual disability, searching for de novo CNVs, as well as for de novo and rare inherited point variations-single nucleotide variants (SNVs) or small insertions and deletions (indels)-with probable functional impacts. With aCGH, we identified, in both siblings, a duplication in the 4p16.3 region and a deletion at 8p23.3, inherited by a paternal balanced translocation, t(4, 8) (p16; p23). Exome variant analysis found a total of 316 variants, of which 102 were shared by both siblings, 128 were in the male sibling exome data, and 86 were in the female exome data. Our integrative network analysis showed that the siblings’ shared translocation could explain their similar syndromic phenotype, including overgrowth, macrocephaly, and intellectual disability. However, exome data aggregate genes to those already connected from their translocation, which are important to the robustness of the network and contribute to the understanding of the broader spectrum of psychiatric symptoms. This study shows the importance of using an integrative approach to explore genotype-phenotype variability.
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14. Silberman S. {{Beyond « Deficit-Based » thinking in autism research: Comment on « Implications of the idea of neurodiversity for understanding the origins of developmental disorders » by Nobuo Masataka}}. {Phys Life Rev};2017 (Jan 17)
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15. Urbanowicz A, Ciccone N, Girdler S, Leonard H, Downs J. {{Choice making in Rett syndrome: a descriptive study using video data}}. {Disabil Rehabil};2017 (Jan 23):1-10.
PURPOSE: To describe the choice-making abilities of girls and women with Rett syndrome. METHOD: Females with Rett syndrome registered with the Australian Rett Syndrome Database with a pathogenic MECP2 mutation were included in this study. Video clips showing choice making in 64 females at a median age of 11.6 years (range 2.3-35.6 years) were analysed. Video clips were coded for the location and nature of the choice-making interaction, and the actions of the communication partner and female with Rett syndrome. RESULTS: The majority (82.8%, 53/64) of females made a choice, most using eye gaze. Just under half (24/53) used one modality to communicate their choice, 52.8% used two modalities and one used three modalities. Of those who made a choice, 50% did so within 8 s. The length of time to make a choice did not appear to vary with age. During choice making, 57.8% (37/64) of communication partners used language and gestures, 39.1% (25/64) used only language and two used language, gestures and symbols within the interaction. CONCLUSIONS: The provision of adequate time allowing for a response and observation for the use of multiple modalities could promote effective choice making in females with Rett syndrome. Implications for Rehabilitation The provision of adequate time allowing for a response will promote effective choice making in girls and women with Rett syndrome. Although almost all girls and women with Rett syndrome used eye gaze to indicate their choice, communication partners also need to recognise and respond to other communication modalities that are sometimes used like body movements.
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16. White SW, Richey JA, Gracanin D, Coffman M, Elias R, LaConte S, Ollendick TH. {{Psychosocial and Computer-Assisted Intervention for College Students with Autism Spectrum Disorder: Preliminary Support for Feasibility}}. {Educ Train Autism Dev Disabil};2016 (Sep);51(3):307-317.
The number of young adults with Autism Spectrum Disorders (ASD) enrolled in higher education institutions has steadily increased over the last decade. Despite this, there has been little research on how to most effectively support this growing population. The current study presents data from a pilot trial of two novel intervention programs developed for college students with ASD. In this small randomized controlled trial, college students with ASD (n = 8) were assigned to one of two new programs – either an intervention based on a virtual reality-Brain-Computer Interface for ASD (BCI-ASD) or a psychosocial intervention, the College and Living Success (CLS) program. Preliminary evidence supports the feasibility and acceptability of both programs, although behavioral outcomes were inconsistent across participants and interventions. Results indicate that expanded research on psychosocial and computer-assisted intervention approaches for this population is warranted, given the preliminary support found in this pilot study.
