1. Amestoy A, Guillaud E, Bouvard MP, Cazalets JR. {{Developmental changes in face visual scanning in autism spectrum disorder as assessed by data-based analysis}}. {Front Psychol};2015;6:989.
Individuals with autism spectrum disorder (ASD) present reduced visual attention to faces. However, contradictory conclusions have been drawn about the strategies involved in visual face scanning due to the various methodologies implemented in the study of facial screening. Here, we used a data-driven approach to compare children and adults with ASD subjected to the same free viewing task and to address developmental aspects of face scanning, including its temporal patterning, in healthy children, and adults. Four groups (54 subjects) were included in the study: typical adults, typically developing children, and adults and children with ASD. Eye tracking was performed on subjects viewing unfamiliar faces. Fixations were analyzed using a data-driven approach that employed spatial statistics to provide an objective, unbiased definition of the areas of interest. Typical adults expressed a spatial and temporal strategy for visual scanning that differed from the three other groups, involving a sequential fixation of the right eye (RE), left eye (LE), and mouth. Typically developing children, adults and children with autism exhibited similar fixation patterns and they always started by looking at the RE. Children (typical or with ASD) subsequently looked at the LE or the mouth. Based on the present results, the patterns of fixation for static faces that mature from childhood to adulthood in typical subjects are not found in adults with ASD. The atypical patterns found after developmental progression and experience in ASD groups appear to remain blocked in an immature state that cannot be differentiated from typical developmental child patterns of fixation.
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2. Baker EK, Richdale AL. {{Sleep Patterns in Adults with a Diagnosis of High-Functioning Autism Spectrum Disorder}}. {Sleep};2015 (Jul 24)
STUDY OBJECTIVES: To examine sleep patterns and sleep problems and their relationship with daytime functioning in adults with a diagnosis of an autism spectrum disorder and no comorbid intellectual disability (high-functioning autism spectrum disorder [HFASD]) compared to neurotypical (NT) adults. DESIGN: Cross-sectional. SETTING: Home-based study. PARTICIPANTS: 36 adults with HFASD and 36 age-, intelligence quotient- and sex-matched NT adults. MEASUREMENTS: Participants completed an online questionnaire battery including the Pittsburgh Sleep Quality Index (PSQI), a 14-d sleep wake diary and 14-d actigraphy data collection. RESULTS: Adults with HFASD had significantly more general sleep disturbances and higher scores on the PSQI, longer sleep onset latencies (actigraphy), and poorer sleep efficiency (diary) and these results remained significant after accounting for the False Discovery Rate. Those adults with HFASD who did not have a comorbid diagnosis of anxiety/depression had significantly shorter total sleep time (diary and actigraphy) compared to NT adults. Compared to NT adults, the HFASD group self-reported significantly poorer refreshment scores upon waking in the morning and higher scores on the daytime dysfunction due to sleepiness subscale of the PSQI. CONCLUSIONS: These findings support the notion that problems related to sleep, in particular insomnia, continue into adulthood in individuals with HFASD.
3. Biscaldi M, Rauh R, Muller C, Irion L, Saville CW, Schulz E, Klein C. {{Identification of neuromotor deficits common to autism spectrum disorder and attention deficit/hyperactivity disorder, and imitation deficits specific to autism spectrum disorder}}. {Eur Child Adolesc Psychiatry};2015 (Aug 2)
Deficits in motor and imitation abilities are a core finding in autism spectrum disorders (ASD), but impaired motor functions are also found in attention deficit/hyperactivity disorder (ADHD). Given recent theorising about potential aetiological overlap between the two disorders, the present study aimed to assess difficulties in motor performance and imitation of facial movements and meaningless gestures in a sample of 24 ADHD patients, 22 patients with ASD, and 20 typically developing children, matched for age (6-13 years) and similar in IQ (>80). Furthermore, we explored the impact of comorbid ADHD symptoms on motor and imitation performance in the ASD sample and the interrelationships between the two groups of variables in the clinical groups separately. The results show motor dysfunction was common to both disorders, but imitation deficits were specific to ASD. Together with the pattern of interrelated motor and imitation abilities, which we found exclusively in the ASD group, our findings suggest complex phenotypic, and possibly aetiological, relationships between the two neurodevelopmental conditions.
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4. Cagetti MG, Mastroberardino S, Campus G, Olivari B, Faggioli R, Lenti C, Strohmenger L. {{Dental care protocol based on visual supports for children with autism spectrum disorders}}. {Med Oral Patol Oral Cir Bucal};2015 (Aug 4)
BACKGROUND: Subjects with Autism Spectrum Disorders (ASDs) have often difficulties to accept dental treatments. The aim of this study is to propose a dental care protocol based on visual supports to facilitate children with ASDs to undergo to oral examination and treatments. MATERIAL AND METHODS: 83 children (age range 6-12 years) with a signed consent form were enrolled; intellectual level, verbal fluency and cooperation grade were evaluated. Children were introduced into a four stages path in order to undergo: an oral examination (stage 1), a professional oral hygiene session (stage 2), sealants (stage 3), and, if necessary, a restorative treatment (stage 4). Each stage came after a visual training, performed by a psychologist (stage 1) and by parents at home (stages 2, 3 and 4). Association between acceptance rates at each stage and gender, intellectual level, verbal fluency and cooperation grade was tested with chi-square test if appropriate. RESULTS: Seventy-seven (92.8%) subjects overcame both stage 1 and 2. Six (7.2%) refused stage 3 and among the 44 subjects who need restorative treatments, only three refused it. The acceptance rate at each stage was statistically significant associated to the verbal fluency (p=0.02; p=0.04; p=0.01, respectively for stage 1, 3 and 4). In stage 2 all subjects accepted to move to the next stage. The verbal/intellectual/cooperation dummy variable was statistically associated to the acceptance rate (p<0.01). CONCLUSIONS: The use of visual supports has shown to be able to facilitate children with ASDs to undergo dental treatments even in non-verbal children with a low intellectual level, underlining that behavioural approach should be used as the first strategy to treat patients with ASDs in dental setting.
5. F DZ, G MS, Angeli M, C CH, C AM. {{[Basics of early intervention in children with autism spectrum disorders]}}. {Rev Chil Pediatr};2015 (Mar-Apr);86(2):126-131.
Autism Spectrum Disorders (ASD) are characterized by impairments in communication and social interaction, as well as restricted and repetitive patterns of behavior. They have a prevalence of 0.6% in the general population, although there are no national statistics. Even though their evolution is variable, it has been observed that early intervention is an important factor determining prognosis. The aim of this study is to update concepts regarding the current available evidence on the importance of early intervention. After analyzing the collected information, the importance of early intervention programs for children with ASD is confirmed, as well as the role of pediatricians and other health professionals in the early detection of these disorders.
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6. Feron F, Gepner B, Lacassagne E, Stephan D, Mesnage B, Blanchard MP, Boulanger N, Tardif C, Deveze A, Rousseau S, Suzuki K, Izpisua Belmonte JC, Khrestchatisky M, Nivet E, Erard-Garcia M. {{Olfactory stem cells reveal MOCOS as a new player in autism spectrum disorders}}. {Mol Psychiatry};2015 (Aug 4)
With an onset under the age of 3 years, autism spectrum disorders (ASDs) are now understood as diseases arising from pre- and/or early postnatal brain developmental anomalies and/or early brain insults. To unveil the molecular mechanisms taking place during the misshaping of the developing brain, we chose to study cells that are representative of the very early stages of ontogenesis, namely stem cells. Here we report on MOlybdenum COfactor Sulfurase (MOCOS), an enzyme involved in purine metabolism, as a newly identified player in ASD. We found in adult nasal olfactory stem cells of 11 adults with ASD that MOCOS is downregulated in most of them when compared with 11 age- and gender-matched control adults without any neuropsychiatric disorders. Genetic approaches using in vivo and in vitro engineered models converge to indicate that altered expression of MOCOS results in neurotransmission and synaptic defects. Furthermore, we found that MOCOS misexpression induces increased oxidative-stress sensitivity. Our results demonstrate that altered MOCOS expression is likely to have an impact on neurodevelopment and neurotransmission, and may explain comorbid conditions, including gastrointestinal disorders. We anticipate our discovery to be a fresh starting point for the study on the roles of MOCOS in brain development and its functional implications in ASD clinical symptoms. Moreover, our study suggests the possible development of new diagnostic tests based on MOCOS expression, and paves the way for drug screening targeting MOCOS and/or the purine metabolism to ultimately develop novel treatments in ASD.Molecular Psychiatry advance online publication, 4 August 2015; doi:10.1038/mp.2015.106.
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7. Goddard MN, Swaab H, Rombouts SA, van Rijn S. {{Neural systems for social cognition: gray matter volume abnormalities in boys at high genetic risk of autism symptoms, and a comparison with idiopathic autism spectrum disorder}}. {Eur Arch Psychiatry Clin Neurosci};2015 (Aug 2)
Klinefelter syndrome (47, XXY) is associated with several physical, cognitive, and behavioral consequences. In terms of social development, there is an increased risk of autism symptomatology. However, it remains unclear how social deficits are related to abnormal brain development and to what degree underlying mechanisms of social dysfunction in 47, XXY are similar to, or different from, those in idiopathic autism (ASD). This study was aimed at investigating the neural architecture of brain structures related to social information processing in boys with 47, XXY, also in comparison with boys with idiopathic ASD. MRI scans of 16 boys with 47, XXY, 16 with ASD, and 16 nonclinical, male controls were analyzed using voxel-based morphometry (VBM). A region of interest mask containing the superior temporal cortex, amygdala, orbitofrontal cortex (OFC), insular cortex, and medial frontal cortex was used. The Social Responsiveness Scale (SRS) was used to assess degree of autism spectrum symptoms. The 47, XXY group could not be distinguished from the ASD group on mean SRS scores, and their scores were significantly higher than in controls. VBM showed that boys with 47, XXY have significant gray matter volume reductions in the left and right insula, and the left OFC, compared with controls and boys with ASD. Additionally, boys with 47, XXY had significantly less gray matter in the right superior temporal gyrus than controls. These results imply social challenges associated with 47, XXY may be rooted in neural anatomy, and autism symptoms in boys with 47, XXY and boys with ASD might have, at least partially, different underlying etiologies.
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8. Gold WA, Christodoulou J. {{The Utility of Next-Generation Sequencing in Gene Discovery for Mutation-Negative Patients with Rett Syndrome}}. {Front Cell Neurosci};2015;9:266.
Rett syndrome (RTT) is a rare, severe disorder of neuronal plasticity that predominantly affects girls. Girls with RTT usually appear asymptomatic in the first 6-18 months of life, but gradually develop severe motor, cognitive, and behavioral abnormalities that persist for life. A predominance of neuronal and synaptic dysfunction, with altered excitatory-inhibitory neuronal synaptic transmission and synaptic plasticity, are overarching features of RTT in children and in mouse models. Over 90% of patients with classical RTT have mutations in the X-linked methyl-CpG-binding (MECP2) gene, while other genes, including cyclin-dependent kinase-like 5 (CDKL5), Forkhead box protein G1 (FOXG1), myocyte-specific enhancer factor 2C (MEF2C), and transcription factor 4 (TCF4), have been associated with phenotypes overlapping with RTT. However, there remain a proportion of patients who carry a clinical diagnosis of RTT, but who are mutation negative. In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies, making whole-exome and even whole-genome sequencing possible strategies for the detection of rare and de novo mutations, aiding the discovery of novel disease genes. Here, we review the recent progress that is emerging in identifying pathogenic variations, specifically from exome sequencing in RTT patients, and emphasize the need for the use of this technology to identify known and new disease genes in RTT patients.
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9. Lai JK, Doering LC, Foster JA. {{Developmental Expression of the Neuroligins and Neurexins in Fragile X mice}}. {J Comp Neurol};2015 (Aug 1)
Neuroligins and neurexins are trans-synaptic proteins involved in the maturation of glutamatergic and GABAergic synapses. Research has identified synaptic proteins and function as primary contributors to the development of Fragile X Syndrome. Fragile X mental retardation protein (FMRP), the protein that is lacking in Fragile X Syndrome, binds neuroligin-1 and -3 mRNA. Using in situ hybridization we examined temporal and spatial expression patterns of neuroligin (NLGN) and neurexin (NRXN) mRNAs in the somatosensory (S1) cortex and hippocampus in wild type (WT) and fragile X knock out (FMR1-KO) mice during the first 5 weeks of postnatal life. Genotype-based differences in expression included increased NLGN1 mRNA in CA1 and S1 cortex, decreased NLGN2 mRNA in CA1 and dentate gyrus (DG) regions of the hippocampus, and increased NRXN3 mRNA in CA1, DG, and S1 cortex between female WT and FMR1-KO mice. In male mice, decreased expression of NRXN3 mRNA was observed in CA1 and DG regions of FMR1-KO mice. Sex differences in hippocampal expression of NLGN2, NRXN1, NRXN2, and NRXN3 mRNAs and in S1 cortex expression of NRXN3 mRNAs were observed WT mice, whereas sex differences in NLGN3, NRXN1, NRXN2, and NRXN3 mRNA expression in the hippocampus and in NLGN1, NRXN2 and NRXN3 mRNA expression in S1 cortex were detected in FMR1-KO mice. These results provide a neuroanatomical map of NLGN and NRXN expression patterns over postnatal development in WT and FMR1-KO mice. The differences in developmental trajectory of these synaptic proteins could contribute to long-term differences in CNS wiring and synaptic function. This article is protected by copyright. All rights reserved.
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10. Leoncini S, De Felice C, Signorini C, Zollo G, Cortelazzo A, Durand T, Galano JM, Guerranti R, Rossi M, Ciccoli L, Hayek J. {{Cytokine Dysregulation in MECP2- and CDKL5-Related Rett Syndrome: Relationships with Aberrant Redox Homeostasis, Inflammation, and omega-3 PUFAs}}. {Oxid Med Cell Longev};2015;2015:421624.
An involvement of the immune system has been suggested in Rett syndrome (RTT), a devastating neurodevelopmental disorder related to oxidative stress, and caused by a mutation in the methyl-CpG binding protein 2 gene (MECP2) or, more rarely, cyclin-dependent kinase-like 5 (CDKL5). To date, it is unclear whether both mutations may have an impact on the circulating cytokine patterns. In the present study, cytokines involved in the Th1-, Th2-, and T regulatory (T-reg) response, as well as chemokines, were investigated in MECP2- (MECP2-RTT) (n = 16) and CDKL5-Rett syndrome (CDKL5-RTT) (n = 8), before and after omega-3 polyunsaturated fatty acids (PUFAs) supplementation. A major cytokine dysregulation was evidenced in untreated RTT patients. In MECP2-RTT, a Th2-shifted balance was evidenced, whereas in CDKL5-RTT both Th1- and Th2-related cytokines (except for IL-4) were upregulated. In MECP2-RTT, decreased levels of IL-22 were observed, whereas increased IL-22 and T-reg cytokine levels were evidenced in CDKL5-RTT. Chemokines were unchanged. The cytokine dysregulation was proportional to clinical severity, inflammatory status, and redox imbalance. Omega-3 PUFAs partially counterbalanced cytokine changes, as well as aberrant redox homeostasis and the inflammatory status. RTT is associated with a subclinical immune dysregulation as the likely consequence of a defective inflammation regulatory signaling system.
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11. Mahajan R, Mostofsky SH. {{Neuroimaging endophenotypes in autism spectrum disorder}}. {CNS Spectr};2015 (Aug);20(4):412-426.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that has a strong genetic basis, and is heterogeneous in its etiopathogenesis and clinical presentation. Neuroimaging studies, in concert with neuropathological and clinical research, have been instrumental in delineating trajectories of development in children with ASD. Structural neuroimaging has revealed ASD to be a disorder with general and regional brain enlargement, especially in the frontotemporal cortices, while functional neuroimaging studies have highlighted diminished connectivity, especially between frontal-posterior regions. The diverse and specific neuroimaging findings may represent potential neuroendophenotypes, and may offer opportunities to further understand the etiopathogenesis of ASD, predict treatment response, and lead to the development of new therapies.
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12. McConachie H. {{Appropriate outcome measurement for children with autism spectrum disorder}}. {Dev Med Child Neurol};2015 (Jul 30)
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13. Ming X, Patel R, Kang V, Chokroverty S, Julu PO. {{Respiratory and autonomic dysfunction in children with autism spectrum disorders}}. {Brain Dev};2015 (Jul 30)
INTRODUCTION: Cardiac parasympathetic hypofunction has been reported in autism spectrum disorders (ASD). This usually is linked to respiratory dysrhythmia which has been documented in some children with ASD. OBJECTIVES: This study evaluated the cardiorespiratory functions in ASD to elucidate the physiologic basis of behaviors. METHODS: Nineteen children with ASD and 18 age matched controls underwent autonomic function monitoring at a defined resting state using the NeuroScope. The non-invasive real time beat-to-beat blood pressure was measured by Portapres and fed into the NeuroScope where heart rate, cardiac vagal tone and cardiac sensitivity to baroreceptor were derived from the EKG and blood pressure waveforms using the Vagosoft software; and respiratory rate and rhythm were measured simultaneously by plethysmograph. Respiration was analyzed breath by breath using our prior published methods. RESULTS: Various respiratory dysrhythmias, particularly Biot’s and Cheyne-Stokes respiration, were detected in children with ASD, who also exhibited greater variability in respiratory rhythm and amplitudes than controls. The respiratory dysrhythmia in children with ASD was associated with a lower cardiac vagal activity. CONCLUSION: The Biot’s breathing and Cheyne-Stokes respiration coupled with cardiac vagal hypofunction in ASD suggest a brainstem dysfunction consistent with our previous findings. The low parasympathetic activity could explain in part the chronic sensory hyperarousal state in children with ASD.
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14. Pisano AJ, Wagner SC, Helgeson MD, Jex JW. {{Multiple vertebral dislocation events after fusion for scoliosis in rett syndrome}}. {Spine J};2015 (Jul 30)
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15. Smitha KG, Vinod AP. {{Facial emotion recognition system for autistic children: a feasible study based on FPGA implementation}}. {Med Biol Eng Comput};2015 (Aug 4)
Children with autism spectrum disorder have difficulty in understanding the emotional and mental states from the facial expressions of the people they interact. The inability to understand other people’s emotions will hinder their interpersonal communication. Though many facial emotion recognition algorithms have been proposed in the literature, they are mainly intended for processing by a personal computer, which limits their usability in on-the-move applications where portability is desired. The portability of the system will ensure ease of use and real-time emotion recognition and that will aid for immediate feedback while communicating with caretakers. Principal component analysis (PCA) has been identified as the least complex feature extraction algorithm to be implemented in hardware. In this paper, we present a detailed study of the implementation of serial and parallel implementation of PCA in order to identify the most feasible method for realization of a portable emotion detector for autistic children. The proposed emotion recognizer architectures are implemented on Virtex 7 XC7VX330T FFG1761-3 FPGA. We achieved 82.3 % detection accuracy for a word length of 8 bits.
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16. Van Eylen L, Boets B, Steyaert J, Wagemans J, Noens I. {{Local and Global Visual Processing in Autism Spectrum Disorders: Influence of Task and Sample Characteristics and Relation to Symptom Severity}}. {J Autism Dev Disord};2015 (Aug 2)
Local and global visual processing abilities and processing style were investigated in individuals with autism spectrum disorder (ASD) versus typically developing individuals, children versus adolescents and boys versus girls. Individuals with ASD displayed more attention to detail in daily life, while laboratory tasks showed slightly reduced global processing abilities, intact local processing abilities, and a more locally oriented processing style. However, the presence of these group differences depended on particular task and sample (i.e., age and gender) characteristics. Most measures of local and global processing did not correlate with each other and were not associated with processing style. Significant associations between local-global processing and ASD symptom severity were observed, but the causality of these associations remains unclear.
