1. Ahmad SF, Nadeem A, Ansari MA, Bakheet SA, Al-Ayadhi LY, Attia SM. {{Downregulation in Helios transcription factor signaling is associated with immune dysfunction in blood leukocytes of autistic children}}. {Prog Neuropsychopharmacol Biol Psychiatry};2018 (Apr 23)
Autism spectrum disorder (ASD) is a complex heterogeneous neurodevelopmental disorder in which immunological imbalance has been suggested to be a major etiological component. Helios, a transcription factor, has been studied extensively in the context of human T cell regulation in health and disease, yet the role of Helios signaling has not been examined in children with ASD. In the present study, we investigated the production of Helios in CD4(+), CD8(+), and TIM-3(+), CXCR3(+) cells in typically developing (TD) controls and children with ASD and in peripheral blood mononuclear cells (PBMCs). We assayed the production of IFN-gamma(+)Helios(+), IL-21(+)Helios(+), T-bet(+)Helios(+), and Foxp3(+)Helios(+) cells, and determined Helios mRNA and protein expression levels in PBMCs, in TD controls and children with ASD. Our results revealed that children with ASD had lower numbers of CD4(+)Helios(+) CD8(+)Helios(+), TIM-3(+)Helios(+), and CXCR3(+)Helios(+) cells as compared to TD controls. Our results also showed that children with ASD had decreased IFN-gamma(+)Helios(+), IL-21(+)Helios(+), T-bet(+)Helios(+), and Helios(+)Foxp3(+) production compared to that in TD controls. Moreover, our results indicated that children with ASD had lower Helios mRNA and protein expression levels compared to those in TD controls. These results suggest that the Helios transcription factor may be critical to immune alterations in children with ASD. Therefore, our results suggest that targeting Helios signaling might offer a strategy for developing ASD therapies.
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2. Arik A, Aksoy C, Aysev A, Akcakin M. {{Lower-extremity rotational profile and toe-walking in preschool children with autism spectrum disorder}}. {J Pediatr Orthop B};2018 (Apr 24)
The aim of this study was to establish the torsional and toe-walking profiles of children with autism spectrum disorder (ASD), and to analyze the correlations between torsion, toe-walking, autism severity score, and age. In total, 79 consecutive children with autism were examined to determine their hip rotations, thigh-foot angle, degree of toe-walking, and autism severity. Femoral and tibial torsion values, of the preschool patients, were compared statistically with age-matched controls. The hip rotation profile of the patients was similar to the normal group. Nearly a half of the patients with ASD present excessive external tibial torsion. The difference in the tibial torsion between patients and normal children was statistically significant. A weak correlation was found only between tibial torsion and the autism severity score, but no correlation was found between the other parameters. External tibial torsion is the cardinal and persistent orthopedic manifestation among patients with ASD. Toe-walking is the second most common such manifestation and is an independent orthopedic feature in these patients. External tibial torsion may potentially contribute toward the described gait abnormalities in patients with ASD.
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3. Chen KL, Lin CH, Yu TY, Huang CY, Chen YD. {{Differences Between the Childhood Autism Rating Scale and the Social Responsiveness Scale in Assessing Symptoms of Children with Autistic Spectrum Disorder}}. {J Autism Dev Disord};2018 (Apr 25)
This study aimed to compare symptoms of autism spectrum disorder using the Childhood Autism Rating Scale (CARS) and the Social Responsiveness Scale (SRS-2) and to investigate their influencing factors. The diagnostic agreement was 92.7%, but with a fair Kappa value (0.247). Children’s verbal comprehension was related to the CARS scores, and no variables were related to the SRS-2 scores. Generally, significant small correlations were found between the two measures in children with normal or borderline to below average verbal comprehension (rs = 0.32 ~ 0.49, p < .005), but not in those with impaired verbal comprehension. The CARS and the SRS-2 may contain different explicit behaviors and collect different perspectives (i.e., those of caregivers and professionals). Therefore, they appear to complement each other. Lien vers le texte intégral (Open Access ou abonnement)
4. Gulsrud A, Lin CE, Park MN, Hellemann G, McCracken J. {{Self-injurious behaviours in children and adults with autism spectrum disorder (ASD)}}. {J Intellect Disabil Res};2018 (Apr 25)
BACKGROUND: Self-injurious behaviours (SIB) are concerning, maladaptive behaviours that commonly occur in people with neurodevelopmental conditions and delays but seem to be particularly prevalent in children and adults with autism spectrum disorder (ASD). There has been increasing research examining the risk markers associated with the presence of SIB in people with ASD. Some of the factors associated with SIB have included cognitive abilities, adaptive functioning deficits and behaviour regulation impairments (e.g. impulsivity and repetitive behaviours). However, many of the findings in the literature are mixed and only explain a small proportion of the variance contributing to SIB. Limitations in the previous literature have centred on lack of availability of large and diverse samples, restricted age ranges and constraints of measurement. METHOD: This study characterises a clinic-referred sample of children and adults currently presenting with and without SIB using a range of standardised and parent-report measures. The sample includes 144 individuals with ASD between the ages of 2.5 and 60.1 years. RESULTS: After adjusting for multiple tests, none of the variables maintained statistical significance between the group of individuals with and without SIB, but medium to large effect sizes were noted. These variables include parent-reported early motor and toileting delays and perinatal risk, and current cognitive and social impairment. The remaining variables, including current autism severity levels, early ASD symptomatology, impulsivity, executive functioning impairments, adaptive functioning, mood and anxiety, did not differ between those with and without current engagement in SIB. CONCLUSIONS: Utilising a diverse clinic-referred sample and standardised diagnostic tools, this study explored retrospective and current correlate risk markers of SIB in individuals with ASD. In addition to impairments in current functioning, specific early developmental delays and perinatal risk factors were preliminarily associated with the presence of SIB in individuals with ASD. Together these findings suggest that a set of specific characteristics may be related to both early risk and concurrent manifestation of SIB. Identifying this set of characteristics in early development may lead to faster identification and better intervention services, but future work utilising longitudinal design and multivariate analysis is warranted.
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5. Morales-Hidalgo P, Roige-Castellvi J, Hernandez-Martinez C, Voltas N, Canals J. {{Prevalence and Characteristics of Autism Spectrum Disorder Among Spanish School-Age Children}}. {J Autism Dev Disord};2018 (Apr 25)
The present study aims to assess the prevalence of autism spectrum disorder (ASD) in preschool and school-age children following a two-phase procedure. The screening phase was performed on a sample of 5555 children taking into account parent and teacher information. The individual assessment included the ADI-R, ADOS-2 and Wechsler scales. The estimated prevalence was 1.55% in preschoolers and 1.00% in school-age children. Between 1.84 and 2.59% of the children exhibited subclinical diagnosis. The male-to-female ratio was around 4:1. Most of the children exhibited mild and moderate nuclear symptoms, and the girls showed less severe communication problems. Previous diagnosis was found in 62-71% of the children. Prevalence estimates are close to the 1% international ratings and much higher than previous national reports suggested.
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6. Pourbagheri N, Mirzakhani N, Akbarzadehbaghban A. {{A Comparison of Emotional-Behavioral Problems of Siblings at the Age Range of 3-9 Year Old Children with Autism and Down Syndrome}}. {Iran J Child Neurol};2018 (Spring);12(2):73-82.
Objective: Children’s emotional-behavioral problems will have a huge impact on their future. Such problems are more seen in the siblings of children with special needs. The present study aimed to compare emotional-behavioral problems in the healthy siblings of autistic children with the healthy siblings of children with Down syndrome in order to identify such children in Iran. Materials & Methods: This descriptive study was carried out in Tehran, Iran in 2016 on 174 healthy children aged between 3 and 9 yr old among whom 58 cases had autistic siblings, 58 cases had siblings with Down syndrome, and 58 cases had typically development siblings. The participants were selected using convenience sampling technique. All volunteer parents filled in SDQ Questionnaire. The study results were calculated using independent sample t-test, two-way ANOVA, and Tukey post hoc test by SPSS. Results: The mean overall score of Strengths and Difficulties Questionnaire was reported as 17.98+/-6.19 in the autism group, 11.01+/-6.56 in the Down syndrome group and 4.43+/-4.34 in the healthy group. There was a significant difference among autism, Down syndrome, and healthy groups. In the group of siblings with Down syndrome, the problems were significantly more in the age range of 3 to 7 yr old (P<0.05). However, no significant difference was observed in the scores of males and females (P>0.05). Conclusion: Siblings with autism or Down syndrome can have especial psychological effects on healthy children in families in the way that such effect will be more with autistic children. Therefore, formulating beneficial strategies for their parents is used to prevent emotional behavioral problems.
7. Rhee J, Park K, Kim KC, Shin CY, Chung C. {{Impaired Hippocampal Synaptic Plasticity and Enhanced Excitatory Transmission in a Novel Animal Model of Autism Spectrum Disorders with Telomerase Reverse Transcriptase Overexpression}}. {Mol Cells};2018 (Apr 26)
Recently, we have reported that animals with telomerase reverse transcriptase (TERT) overexpression exhibit reduced social interaction, decreased preference for novel social interaction and poor nest-building behaviors-symptoms that mirror those observed in human autism spectrum disorders (ASD). Overexpression of TERT also alters the excitatory/inhibitory (E/I) ratio in the medial prefrontal cortex. However, the effects of TERT overexpression on hippocampal-dependent learning and synaptic efficacy have not been investigated. In the present study, we employed electrophysiological approaches in combination with behavioral analysis to examine hippocampal function of TERT transgenic (TERT-tg) mice and FVB controls. We found that TERT overexpression results in enhanced hippocampal excitation with no changes in inhibition and significantly impairs long-term synaptic plasticity. Interestingly, the expression levels of phosphorylated CREB and phosphorylated CaMKIIalpha were significantly decreased while the expression level of CaMKIIalpha was slightly increased in the hippocampus of TERT-overexpressing mice. Our observations highlight the importance of TERT in normal synaptic function and behavior and provide additional information on a novel animal model of ASD associated with TERT overexpression.
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8. Thompson B, Winsler A. {{Parent-Teacher Agreement on Social Skills and Behavior Problems Among Ethnically Diverse Preschoolers with Autism Spectrum Disorder}}. {J Autism Dev Disord};2018 (Apr 25)
Parents and teachers provide complimentary information in the assessment of preschoolers so it is important to understand parent-teacher agreement, especially for children with autism. Parents and teachers rated an ethnically diverse sample of preschoolers with autism (N = 257; 67% Latino) on the Devereux Early Childhood Assessment (LeBuffe and Naglieri in Devereux Early Childhood Assessment: User’s guide, Kaplan Press, Lewisville, 1999). Correlations between parent and teacher ratings were moderate and significant for social skills (r = 0.20-0.37) but near zero for behavioral concerns. Parents rated children as having stronger social skills and fewer behavioral concerns than teachers, unlike prior research with typically developing preschoolers. Both informants rated White/other children more positively than minority children on several subscales, although agreement was similar across groups. Implications for practice are discussed.
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9. Xu J, Wang H, Zhang L, Xu Z, Li T, Zhou Z, Zhou Z, Gan Y, Hu Q. {{Both Hypo-Connectivity and Hyper-Connectivity of the Insular Subregions Associated With Severity in Children With Autism Spectrum Disorders}}. {Front Neurosci};2018;12:234.
Some studies identified hypo-connectivity, while others showed hyper-connectivity of the insula in the autism spectrum disorders (ASD). These contradictory findings leave open the question of whether and to what extent functional connectivity of the insula is altered and how functional connectivity of the insula is associated with the severity of ASD. A newly emerging insular atlas that comprises multiple functionally differentiated subregions provides a new framework to interpret the functional significance of insular findings and uncover the mechanisms underlying the severity of ASD. Using the new insular atlas, the present study aimed to investigate the distinct functional connectivity of the insular subregions and their associations with ASD severity in a cohort of 49 children with ASD and 33 typically developing (TD) subjects. We found that compared with TD group, the ASD group showed different connectivity patterns in the left ventral agranular insula, right ventral dysgranular and granular insula, and dorsal dysgranular insula, characterized by significant hyper-connectivity and/or hypo-connectivity with special brain regions. Furthermore, both the hypo-connectivity and hyper-connectivity patterns of the insular subregions were significantly associated with the severity of ASD symptoms. Our research demonstrated distinct functional connectivity patterns of the insular subregions and emphasized the importance of the subdivisions within the insula to the potential impact of functional difference in children with ASD. Moreover, these results might help us to better understand the mechanisms underlying the symptoms in children with ASD and might elucidate potential biomarkers for clinical applications.
