1. Anketell PM, Saunders KJ, Gallagher SM, Bailey C, Little JA. {{Accommodative Function in Individuals with Autism Spectrum Disorder}}. {Optometry and vision science : official publication of the American Academy of Optometry}. 2018; 95(3): 193-201.
SIGNIFICANCE: Accommodative responses were significantly poorer in individuals with autism spectrum disorder (ASD) compared with age-matched typically developing control subjects, and hypoaccommodation was associated with reduced near visual acuity (NVA) and convergence. PURPOSE: Autism spectrum disorder is a neurodevelopmental disorder with a reported prevalence of 1.1 to 1.5%. Accommodative dysfunction has been noted in other developmental conditions including cerebral palsy and Down syndrome. The aim of this study was to investigate how accommodative accuracy and near visual function in ASD compared with typically developing control subjects. METHODS: This study investigated accommodative function in children with ASD, in conjunction with other vision measures with habitual refractive corrections. Accommodative accuracy was assessed using modified Nott dynamic retinoscopy. Individual accommodative demand and response were calculated incorporating residual refractive error (difference between cycloplegic and habitual refractive state). Near visual measures included NVA, near point of convergence, fusional reserves, and stereoacuity. Cycloplegic autorefraction confirmed refractive error. RESULTS: Accommodative responses were measured from 124 participants with ASD (6 to 17 years old) and 204 age-matched control subjects. There was no significant difference in the magnitude of residual refractive error between groups (P = .10). The prevalence of a clinically significant lag of accommodation was greater in the ASD group compared with control subjects (ASD = 17.4%, control subjects = 4.9%, chi = 13.04, P < .0001). Near visual acuity was significantly reduced in the ASD group with a clinically significant lag of accommodation (P < .01). A few participants (n = 24 control subjects, n = 14 ASD) had uncorrected or undercorrected refractive errors (spherical equivalent refractive error >/=+2.00 D, >1.00 DC), and when these were removed from analysis, there was still an increased prevalence of hypoaccommodation in ASD (14.7%). CONCLUSIONS: Children with ASD were significantly more likely to have accommodative deficits (and associated near visual deficits) in their presenting refractive state than typically developing children. Appraisal of refractive error, accommodation, and NVA should be considered in visual assessment of children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
2. Chiang HL, Kao WC, Chou MC, Chou WJ, Chiu YN, Wu YY, Gau SS. {{School dysfunction in youth with autistic spectrum disorder in Taiwan: The effect of subtype and ADHD}}. {Autism Res}. 2018.
School dysfunction is observed in youths with autism spectrum disorder (ASD), but the factors moderating their school dysfunction have not been well explored. This study investigated school functions in youths with ASD in Taiwan, stratified by personal characteristics including demographics, ASD subtypes, intelligence profiles, and the presence of attention-deficit hyperactivity disorder (ADHD). We recruited 160 youths (aged 6-18 years, 87.5% boys) with a clinical diagnosis of ASD and 160 age and gender-matched typically developing (TD) youths. Their parents received a semi-structured psychiatric interview for their ASD and ADHD diagnoses and reported their school functions. Youths with ASD were further grouped into low-functioning autism (LFA, ASD with intellectual disability and developmental language delay, n = 44), high-functioning autism (HFA, ASD with no intellectual disability, n = 55) and Asperger’s syndrome (AS, ASD with neither language delay nor intellectual disability, n = 61). Compared to TD, ASD had worse school functions in the domains of academic performance, attitude toward schoolwork, social interaction, and behavioral problems except for no academic differences from TD in HFA and ASD without ADHD. Subgroup analysis revealed that HFA and AS had better academic performance but showed worse attitude toward school than LFA. Comorbidity of ADHD negatively impacted all domains of school functions. Besides autistic and ADHD symptoms, oppositional symptoms, lower intelligence, older age, and female gender in youths also predicted school dysfunction. Although youths with ASD have school dysfunction in several domains, this study specifically addresses the role of intelligence and comorbid ADHD on their school dysfunction. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Impaired school functions varied in ASD youths with different characteristics. Youths with autism spectrum disorder (ASD) encounter varying levels and domains of impaired performance at schools, such as lower academic performance, negative attitude toward school work, fewer reciprocal friendships, and more behavioral problems. Our results indicate that ASD youths without intellectual disability had better academic performance, but worse attitude toward school than those with intellectual disability. Co-occurrence with ADHD is associated with school dysfunction. In summary, intelligence and comorbid ADHD influences several domains of school functions.
Lien vers le texte intégral (Open Access ou abonnement)
3. Eijk S, Mous SE, Dieleman GC, Dierckx B, Rietman AB, de Nijs PFA, Ten Hoopen LW, van Minkelen R, Elgersma Y, Catsman-Berrevoets CE, Oostenbrink R, Legerstee JS. {{Autism Spectrum Disorder in an Unselected Cohort of Children with Neurofibromatosis Type 1 (NF1)}}. {J Autism Dev Disord}. 2018.
In a non-selected sample of children with Neurofibromatosis type 1 (NF1) the prevalence rate of autism spectrum disorder (ASD) and predictive value of an observational (ADOS)-and questionnaire-based screening instrument were assessed. Complete data was available for 128 children. The prevalence rate for clinical ASD was 10.9%, which is clearly higher than in the general population. This prevalence rate is presumably more accurate than in previous studies that examined children with NF1 with an ASD presumption or solely based on screening instruments. The combined observational- and screening based classifications demonstrated the highest positive predictive value for DSM-IV diagnosis, highlighting the importance of using both instruments in children with NF1.
Lien vers le texte intégral (Open Access ou abonnement)
4. Grove R, Hoekstra RA, Wierda M, Begeer S. {{Special interests and subjective wellbeing in autistic adults}}. {Autism Res}. 2018.
Special interests form part of the core features of autism. However, to date there has been limited research focusing on the role of special interests in the lives of autistic adults. This study surveyed autistic adults on their special interest topics, intensity, and motivation. It also assessed the relationship between special interests and a range of quality of life measures including subjective wellbeing and domain specific life satisfaction. About two thirds of the sample reported having a special interest, with relatively more males reporting a special interest than females. Special interest topics included computers, autism, music, nature and gardening. Most autistic adults engaged in more than one special interest, highlighting that these interests may not be as narrow as previously described. There were no differences in subjective wellbeing between autistic adults with and without special interests. However, for autistic adults who did have special interests, motivation for engaging in special interests was associated with increased subjective wellbeing. This indicates that motivation may play an important role in our understanding of special interests in autism. Special interests had a positive impact on autistic adults and were associated with higher subjective wellbeing and satisfaction across specific life domains including social contact and leisure. However, a very high intensity of engagement with special interests was negatively related to wellbeing. Combined, these findings have important implications for the role of special interests in the lives of autistic adults. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autistic adults reported having special interests in a range of topics, including computers, music, autism, nature and gardening. Special interests were associated with a number of positive outcomes for autistic adults. They were also related to subjective wellbeing and satisfaction across specific life domains including social contact and leisure. Very high intensity of engagement with special interests was related to lower levels of wellbeing. This highlights the important role that special interests play in the lives of autistic adults.
Lien vers le texte intégral (Open Access ou abonnement)
5. Hong ER, Kawaminami S, Neely L, Morin K, Davis JL, Gong LY. {{Tablet-based interventions for individuals with ASD: Evidence of generalization and maintenance effects}}. {Res Dev Disabil}. 2018.
BACKGROUND: Despite positive effects of and established empirical evidence for tablet-based interventions for individuals with autism spectrum disorder (ASD), it is not known whether such findings can be applicable to maintenance and generalization effects of those interventions. AIMS: This systematic review evaluated peer-reviewed single-case experimental design (SCED) studies concerning evidence of generalization and maintenance effects of tablet-based interventions for individuals with ASD. METHODS: To evaluate the methodological rigor of the literature in terms of generalization and maintenance effects, the authors adopted four of the basic design standards developed by What Works Clearinghouse (WWC; Kratochwill et al., 2010/2014). In addition, the authors used Tau-U effect size measure and attempted to calculate effect sizes differentiated by the type of generalization and maintenance teaching strategies. RESULTS: A total of 21 studies assessed generalization and/or maintenance effects. In the first evaluation of evidence of generalization and maintenance effects, it was found that more than half of the studies included in this review collected interobserver agreement (IOA) on at least 20% of sessions across all generalization and maintenance conditions and met the minimum quality thresholds of IOA. Meanwhile, less than one third of the studies included more than three data points in each generalization and maintenance condition. With regard to maintenance of effects, about half of the reviewed studies did not report the latency to the maintenance measure, which may hamper the assessment of the clinical and practical significance of the effect of the tablet-based intervention. In the second evaluation, the omnibus Tau-U effect size for baseline to generalization comparisons resulted in a moderate effect. For the contrasts between intervention and generalization comparisons resulted in a small effect. The omnibus Tau-U effect size for baseline and maintenance comparisons resulted in a strong effect. For the contrasts between intervention to maintenance comparisons, the omnibus Tau-U effect size resulted in a small effect. CONCLUSIONS AND IMPLICATION: Findings in this review suggest that efforts should be made to establish a system for appraising generalization and maintenance procedures in SCED studies. In addition, future studies should investigate if tablet-based interventions are truly effective in creating sustainable behavioral change in individuals with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
6. Isaksson S, Salomaki S, Tuominen J, Arstila V, Falter-Wagner CM, Noreika V. {{Is there a generalized timing impairment in Autism Spectrum Disorders across time scales and paradigms?}}. {Journal of psychiatric research}. 2018; 99: 111-21.
Individuals with ASD have abnormal motor and perceptual functions that do not currently form diagnostic criteria of ASD, but nevertheless may affect everyday behaviour. Temporal processing seems to be one of such non-diagnostic yet impaired domains, although the lack of systematic studies testing different aspects of timing in the same sample of participants prevents a conclusive assessment of whether there is a generalized temporal deficit in ASD associated with diagnostic symptoms. 17 children diagnosed with ASD and 18 typically developing age- and IQ-matched controls carried out a set of motor and perceptual timing tasks: free tapping, simultaneity judgment, auditory duration discrimination, and verbal duration estimation. Parents of participants filled in a questionnaire assessing the sense and management of time. Children with ASD showed faster and more variable free tapping than controls. Auditory duration discrimination thresholds were higher in the ASD group than controls in a sub-second version of the task, while there were no group differences in a supra-second discrimination of intervals. Children with ASD showed more variable thresholds of simultaneity judgment, and they received lower parental scores for their sense and management of time. No group differences were observed in the verbal duration estimation task in the minute-range. Different timing functions were correlated in the ASD group but not among controls, whilst several timing measures correlated with ASD symptoms. We conclude that children with ASD show a broad range of abnormalities in temporal processing tasks including motor timing, perceptual timing, and temporal perspective.
Lien vers le texte intégral (Open Access ou abonnement)
7. Kim JI, Shin MS, Lee Y, Lee H, Yoo HJ, Kim SY, Kim H, Kim SJ, Kim BN. {{Reliability and Validity of a New Comprehensive Tool for Assessing Challenging Behaviors in Autism Spectrum Disorder}}. {Psychiatry investigation}. 2018; 15(1): 54-61.
Objective: The purpose of this study was to examine the validity and reliability of the Korean Comprehensive Scale for the Assessment of Challenging Behavior in Developmental Disorders (K-CSCB). Methods: In total, the parents of 189 patients with autism spectrum disorder (ASD) and 168 controls completed the K-CSCB, the Behavior Problems Inventory (BPI) and Child Behavior Checklist (CBCL). The reliability and validity of the K-CSCB was investigated. Results: The K-CSCB was found to be a reliable instrument (Cronbach’s alpha=0.97). There was a significant difference between the ASD and control groups in all subscale scores. Scores on the K-CSCB subscales were significantly correlated with those on the BPI and CBCL. The diagnostic validity was 97.7%, and the cut-off score with the highest sensitivity and specificity was 12.5 points. Conclusion: The K-CSCB is the first tool in Korean to assess problematic behavior in individuals with ASD, and this study shows that it is a valid and reliable instrument. We expect the K-CSCB to be widely used in clinical and research settings.
Lien vers le texte intégral (Open Access ou abonnement)
8. Kinlin LM, Blanchard AC, Silver S, Morris SK. {{Scurvy as a mimicker of osteomyelitis in a child with autism spectrum disorder}}. {International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases}. 2018.
We describe a case of scurvy in a 10-year-old boy with autism spectrum disorder. His clinical presentation was initially thought to be due to osteomyelitis, for which empirical antimicrobial therapy was initiated. Further invasive and ultimately unnecessary investigations were avoided when scurvy was considered in the context of a restricted diet and classic signs of vitamin C deficiency. Infectious Diseases specialists should be aware of scurvy as an important mimicker of osteoarticular infections when involved in the care of patients at risk for nutritional deficiencies.
Lien vers le texte intégral (Open Access ou abonnement)
9. Kohls G, Antezana L, Mosner MG, Schultz RT, Yerys BE. {{Altered reward system reactivity for personalized circumscribed interests in autism}}. {Mol Autism}. 2018; 9: 9.
Background: Neurobiological research in autism spectrum disorders (ASD) has paid little attention on brain mechanisms that cause and maintain restricted and repetitive behaviors and interests (RRBIs). Evidence indicates an imbalance in the brain’s reward system responsiveness to social and non-social stimuli may contribute to both social deficits and RRBIs. Thus, this study’s central aim was to compare brain responsiveness to individual RRBI (i.e., circumscribed interests), with social rewards (i.e., social approval), in youth with ASD relative to typically developing controls (TDCs). Methods: We conducted a 3T functional magnetic resonance imaging (fMRI) study to investigate the blood-oxygenation-level-dependent effect of personalized circumscribed interest rewards versus social rewards in 39 youth with ASD relative to 22 TDC. To probe the reward system, we employed short video clips as reinforcement in an instrumental incentive delay task. This optimization increased the task’s ecological validity compared to still pictures that are often used in this line of research. Results: Compared to TDCs, youth with ASD had stronger reward system responses for CIs mostly within the non-social realm (e.g., video games) than social rewards (e.g., approval). Additionally, this imbalance within the caudate nucleus’ responsiveness was related to greater social impairment. Conclusions: The current data support the idea of reward system dysfunction that may contribute to enhanced motivation for RRBIs in ASD, accompanied by diminished motivation for social engagement. If a dysregulated reward system indeed supports the emergence and maintenance of social and non-social symptoms of ASD, then strategically targeting the reward system in future treatment endeavors may allow for more efficacious treatment practices that help improve outcomes for individuals with ASD and their families.
Lien vers le texte intégral (Open Access ou abonnement)
10. Larsen K, Aasland A, Diseth TH. {{Identification of Symptoms of Autism Spectrum Disorders in the Second Year of Life at Day-Care Centres by Day-Care Staff: Step One in the Development of a Short Observation List}}. {J Autism Dev Disord}. 2018.
Early symptoms of ASD develop through the second year of life, making a stable ASD diagnosis possible at 24 months of age. However, in general, children with ASD have their diagnosis at an older age. This retrospective study, including 30 children with ASD and 30 control children aged 3-6 years, explored the possibility of developing a short observation list to be used in day care settings for children 12-24 months of age. From 73 symptoms selected from published screeners and observation tools, we were able to construct a list of six symptoms that retrospectively differentiated children with ASD from typically developing children at 12-24 months of age when recalled by day-care personnel.
Lien vers le texte intégral (Open Access ou abonnement)
11. Loth E, Garrido L, Ahmad J, Watson E, Duff A, Duchaine B. {{Facial expression recognition as a candidate marker for autism spectrum disorder: how frequent and severe are deficits?}}. {Mol Autism}. 2018; 9: 7.
Background: Impairments in social communication are a core feature of Autism Spectrum Disorder (ASD). Because the ability to infer other people’s emotions from their facial expressions is critical for many aspects of social communication, deficits in expression recognition are a plausible candidate marker for ASD. However, previous studies on facial expression recognition produced mixed results, which may be due to differences in the sensitivity of the many tests used and/or the heterogeneity among individuals with ASD. To ascertain whether expression recognition may serve as a diagnostic marker (which distinguishes people with ASD from a comparison group) or a stratification marker (which helps to divide ASD into more homogeneous subgroups), a crucial first step is to move beyond identification of mean group differences and to better understand the frequency and severity of impairments. Methods: This study tested 46 individuals with ASD and 52 age- and IQ-matched typically developing (TD) participants on the Films Expression Task, which combines three key features of real-life expression recognition: naturalistic facial expressions, a broad range of simple and complex emotions, and short presentation time. Test-retest reliability was assessed in 28 individuals who did not participate in the main study and revealed acceptable reliability (ICC r = .74). Results: Case-control comparisons showed highly significant mean group differences for accuracy (p = 1.1 x 10(- 10)), with an effect size (Cohen’s d = 1.6), more than twice as large as the mean effect size reported in a previous meta-analysis (Uljarevic and Hamilton, 2012, J Autism Dev Disord). The ASD group also had significantly increased mean reaction times overall (p = .00015, d = .83) and on correct trials (p = .0002, d = .78). However, whereas 63% of people with ASD showed severe deficits (they performed below two standard deviations of the TD mean, a small subgroup (15.3%) performed normally (within one standard deviation of the mean). Conclusion: These findings indicate that the majority of people with ASD have severe expression recognition deficits and that the Films Expression Test is a sensitive task for biomarker research in ASD. Future work is needed to establish whether ASD subgroups with and without expression recognition deficits differ from one another in terms of their symptom profile or neurobiological underpinnings.
Lien vers le texte intégral (Open Access ou abonnement)
12. Mahdi S, Albertowski K, Almodayfer O, Arsenopoulou V, Carucci S, Dias JC, Khalil M, Knuppel A, Langmann A, Lauritsen MB, da Cunha GR, Uchiyama T, Wolff N, Selb M, Granlund M, de Vries PJ, Zwaigenbaum L, Bolte S. {{An International Clinical Study of Ability and Disability in Autism Spectrum Disorder Using the WHO-ICF Framework}}. {J Autism Dev Disord}. 2018.
This is the fourth international preparatory study designed to develop International Classification of Functioning, Disability and Health (ICF, and Children and Youth version, ICF-CY) Core Sets for Autism Spectrum Disorder (ASD). Examine functioning of individuals diagnosed with ASD as documented by the ICF-CY in a variety of clinical settings. A cross-sectional study was conducted, involving 11 units from 10 countries. Clinical investigators assessed functioning of 122 individuals with ASD using the ICF-CY checklist. In total, 139 ICF-CY categories were identified: 64 activities and participation, 40 body functions and 35 environmental factors. The study results reinforce the heterogeneity of ASD, as evidenced by the many functional and contextual domains impacting on ASD from a clinical perspective.
Lien vers le texte intégral (Open Access ou abonnement)
13. Manor-Binyamini I, Shoshana A. {{Listening to Bedouin Mothers of Children with Autism}}. {Culture, medicine and psychiatry}. 2018.
This article examines how Bedouin mothers in Israel describe, perceive, and interpret their experiences raising a child with autism. Data were collected using semi-structured ethnographic interviews with 18 Bedouin mothers of children with autism, aged 6-16, living in recognized and unrecognized settlements in the Negev. Analysis of the study findings shows how the subaltern status of Bedouin women, which includes their husbands’ constant threats of divorce or taking a second wife, makes it difficult for them to be mobile and interact in the public sphere without the presence of a man and creates an experience unique to these mothers, which we call « Exclusion within Exclusion ». The Bedouin mothers report not only stigmatization, a lack of social support and loneliness but also structural-cultural characteristics that prevent them from obtaining information and participating in decision-making about the child with autism and that restrict their agency in dealing with and coping with their child’s autism. In light of this situation, the discussion highlights the unique connection between local cultural scripts and the phenomenology of autism.
Lien vers le texte intégral (Open Access ou abonnement)
14. Matsui F, Hecht P, Yoshimoto K, Watanabe Y, Morimoto M, Fritsche K, Will M, Beversdorf D. {{DHA Mitigates Autistic Behaviors Accompanied by Dopaminergic Change in a Gene/Prenatal Stress Mouse Model}}. {Neuroscience}. 2018; 371: 407-19.
Autism Spectrum Disorder (ASD) is characterized by impairments in social interaction, social communication, and repetitive and stereotyped behaviors. Recent work has begun to explore genexenvironmental interactions in the etiology of ASD. We previously reported that prenatal stress exposure in stress-susceptible heterozygous serotonin transporter (SERT) KO pregnant dams in a mouse model resulted in autism-like behavior in the offspring (SERT/S mice). The association between prenatal stress and ASD appears to be affected by maternal SERT genotype in clinical populations as well. Using the mouse model, we examined autistic-like behaviors in greater detail, and additionally explored whether diet supplementation with docosahexaenoic acid (DHA) may mitigate the behavioral changes. Only male SERT/S mice showed social impairment and stereotyped behavior, and DHA supplementation ameliorated some of these behaviors. We also measured monoamine levels in the SERT/S mice after three treatment paradigms: DHA-rich diet continuously from breeding (DHA diet), DHA-rich diet only after weaning (CTL/DHA diet) and control diet only (CTL diet). The dopamine (DA) content in the striatum was significantly increased in the SERT/S mice compared with wild-type (WT) mice, whereas no difference was observed with noradrenaline and serotonin content. Moreover, DA content in the striatum was significantly reduced in the SERT/S mice with the DHA-rich diet provided continuously from breeding. The results indicate that autism-associated behaviors and changes in the dopaminergic system in this setting can be mitigated with DHA supplementation.
Lien vers le texte intégral (Open Access ou abonnement)
15. Melamed IR, Heffron M, Testori A, Lipe K. {{A pilot study of high-dose intravenous immunoglobulin 5% for autism: Impact on autism spectrum and markers of neuroinflammation}}. {Autism Res}. 2018.
Research has shown that a subset of the autism spectrum disorder (ASD) population presents with immune dysregulation. To explore this topic further, we investigated the efficacy and tolerability of intravenous immunoglobulin (IVIG) infusion in children with ASD. In this study, participants were recruited based on a diagnosis of autistic disorder, Asperger’s disorder, or pervasive developmental disorder not otherwise specified. Participants also showed evidence of immune dysfunction based on abnormal levels of specific biomarkers, including CD40 ligand (CD154), lymphocyte stimulation, and T or B cell dysfunction. Of 17 screened patients, 14 completed the trial and received IVIG treatment (1 g/kg dose) for ten 21-day treatment cycles. The primary endpoint was disease improvement assessed using standardized cognitive and behavioral tests (Children’s Communication Checklist [CCC-2], Social Responsiveness Scale [SRS], Aberrant Behavior Checklist [ABC], Clinical Global Impressions-Severity [CGI-S] and -Improvement [CGI-I], Autism Diagnostic Observation Schedule [ADOS], and Peabody Picture Vocabulary Test [PPVT]). Secondary endpoints included experimental biomarkers such as CD154, toll-like receptor-4, memory B cells, FOXP3, and lymphocyte stimulation. Significant improvements from baseline to study endpoint were observed in several subscales of the CCC-2, SRS, CGI-I, CGI-S, and ADOS, including Associated Maladaptive Behaviors (P Lien vers le texte intégral (Open Access ou abonnement)
16. Montes G. {{Having Older Siblings Is Associated with Lower Rates of Depression, ADD/ADHD, Anxiety and Behavior Problems Among Children with ASD}}. {Maternal and child health journal}. 2018.
Objective Within the social determinants of mental health framework, this article investigated whether children with ASD who have older siblings are less likely to experience depression, anxiety, behavior problems or have ADD/ADHD after controlling for standard social determinants of mental health such as household income, parental education and adverse childhood experiences (ACEs). Methods Using the National Survey of Children’s Health 2011-2012, children with ASD spectrum disorders (n = 1624) were categorized into three groups: only child, oldest child and has older siblings. Design corrected cross-tabulations, univariate and multivariate logistic regressions were estimated. Results The three groups of children with ASD were comparable in demographic characteristics (except age), ACEs, and parent-reported ASD severity. Children with ASD who had older siblings were significantly less likely to experience depression, anxiety or behavior problems. They were also less likely to have been diagnosed with ADD or ADHD. Adjusted odds ratios ranged from 0.12 to 0.53 indicating robust associations. Conclusions for Practice Children with ASD who have older siblings were less likely to have comorbid mental health disorders than other children with ASD. Conversely, oldest and only children with ASD were at increased risk for these disorders. Further research is needed to understand how this protection is conferred on children with ASD, and whether it can be adapted into interventions for only and oldest children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
17. Novellino F, Vasta R, Sarica A, Chiriaco C, Salsone M, Morelli M, Arabia G, Sacca V, Nicoletti G, Quattrone A. {{Relationship between Hippocampal Subfields and Category Cued Recall in AD and PDD: A Multimodal MRI Study}}. {Neuroscience}. 2018; 371: 506-17.
Alzheimer’s disease (AD) and Parkinson’s disease with dementia (PDD) are characterized by a different mnesic failure, particularly in memory cued recall. Although hippocampal involvement has been shown in both these diseases, it remains unknown whether a selective damage of specific subfields within the hippocampus may be responsible for the peculiar mnesic profile observed in AD and PDD. To explore this topic, we combined a multimodal 3T-MRI hippocampal evaluation (whole-brain T1-weighted and diffusion tensor imaging) with a hippocampal-targeted neuropsychological assessment (Free and Cued Selective Reminding Test [FCSRT]) in 22 AD subjects, 18 PDD and 17 healthy controls. Macro- and microstructural features (volume; shape; mean diffusivity [MD]; fractional anisotropy [FA]) of bilateral hippocampi (whole and subfields) were obtained. Correlations between MRI-derived parameters and neuropsychological evaluations were performed. In the comparison between AD and PDD, the multimodal analysis allowed us to identify that subiculum, CA1 and CA4-DG were differently involved in these diseases and correlated with immediate and delayed total recall items of FCSRT. Moreover, compared to controls, AD showed a reduction in almost all subfields, with a MD increase in the same regions, whereas PDD displayed a volume loss, less severe than AD, more evident in the CA2-3 and presubiculum subfields. Our study provides new evidence that hippocampal subregions had different vulnerability to damage related to AD and PDD. The combination of the in vivo analysis of hippocampal subfields with the FCSRT paradigm provided important insights into whether changes within specific hippocampal subfields are related to the different mnesic profile in AD and PDD patients.
Lien vers le texte intégral (Open Access ou abonnement)
18. Oien RA, Vambheim SM, Hart L, Nordahl-Hansen A, Erickson C, Wink L, Eisemann MR, Shic F, Volkmar FR, Grodberg D. {{Sex-Differences in Children Referred for Assessment: An Exploratory Analysis of the Autism Mental Status Exam (AMSE)}}. {J Autism Dev Disord}. 2018.
The autism mental status exam is an eight-item observational assessment that structures the way we observe and document signs and symptoms of ASD. Investigations of test performance indicate strong sensitivity and specificity using gold-standard assessment as reference standard. This study aims to explore potential sex differences in AMSE test performance and observations of 123 children referred for autism assessment. Results indicates more language deficits in females with ASD than in males with ASD and less sensory symptoms in females compared to males with ASD. The AMSE performance is similar in identifying ASD and non-ASD in females compared to males. Less disruptive behaviors in females, might cause a need for a bigger hit to other areas of development to raise concern.
Lien vers le texte intégral (Open Access ou abonnement)
19. Petrou AM, Soul A, Koshy B, McConachie H, Parr JR. {{The impact on the family of the co-existing conditions of children with autism spectrum disorder}}. {Autism Res}. 2018.
We aimed to investigate whether the impact on families of children with Autism Spectrum Disorder (ASD) is associated with the number and/or type of emotional and behavioral co-existing conditions that parents/carers of children with ASD reported as occurring frequently. In addition, we examined whether there was a greater impact on families if their child was male, had lower levels of language, had more severe autism symptomatology, and whether impact was associated with the number and/or type of co-existing conditions. Families were recruited from large UK research databases. 420 parents/carers of children aged 3 years 2 months to 18 years 8 months completed the revised Impact on Family (IoF) Scale and reported on the frequency/rate of their child’s co-existing conditions. Parents/carers reported higher mean IoF scores if their child: had a greater number of frequent co-existing conditions; had sleep problems; was only able to communicate physically; and had more severe autism symptomatology. The development and implementation of targeted treatment and management approaches are needed to reduce the impact of co-existing conditions on family life. Autism Res 2018. (c) 2018 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism Spectrum Disorder (ASD) is commonly associated with emotional and/or behavior conditions that affect family life. Parents/carers of children with ASD who: (a) reported a greater number of frequent co-existing conditions, (b) had sleep problems, (c) were only able to communicate physically, and (d) had more severe symptoms characteristic of autism, reported a greater burden/strain on the family. Treatment approaches to target co-existing conditions alongside characteristics of ASD are needed to reduce their impact on family life.
Lien vers le texte intégral (Open Access ou abonnement)
20. Shea N, Payne E, Russo N. {{Brief Report: Social Functioning Predicts Externalizing Problem Behaviors in Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Individuals with ASD often display externalizing behaviors, which have been associated with lower quality of life in adulthood. Social difficulties have been hypothesized to underlie externalizing problems among individuals with ASD (Klin and Volkmar in Asperger Syndrome, 340-366, 2000), but this has never been tested empirically. We examined whether socialization abilities predicted externalizing problems assessed by parent report in a group of 29 individuals with ASD (age range 7-16 years) and 29 TD individuals matched for IQ, age, and gender. Socialization scores accounted for 50% of the variance in externalizing behaviors among individuals with ASD, but not in TD children. These findings have implications for intervention, and suggest that targeting social difficulties might provide a better means to addressing externalizing problems.
Lien vers le texte intégral (Open Access ou abonnement)
21. Soke GN, Rosenberg SA, Rosenberg CR, Vasa RA, Lee LC, DiGuiseppi C. {{Brief Report: Self-Injurious Behaviors in Preschool Children with Autism Spectrum Disorder Compared to Other Developmental Delays and Disorders}}. {J Autism Dev Disord}. 2018.
We compared the prevalence of self-injurious behaviors (SIB) in preschoolers aged 30-68 months with autism spectrum disorder (ASD) (n = 691) versus other developmental delays and disorders (DD) (n = 977) accounting for sociodemographic, cognitive, and medical factors. SIB prevalence was higher in ASD versus all DD [adjusted odds-ratio (aOR) 2.13 (95% confidence interval (95% CI) 1.53, 2.97)]. In subgroup analyses, SIB prevalence was higher in ASD versus DD without ASD symptoms [aOR 4.42 (95% CI 2.66, 7.33)], but was similar between ASD and DD with ASD symptoms [aOR 1.09 (95% CI 0.68, 1.77)]. We confirmed higher prevalence of SIB in ASD versus DD, independent of confounders. In children with DD, SIB prevalence increased with more ASD symptoms. These findings are informative to clinicians, researchers, and policymakers.
Lien vers le texte intégral (Open Access ou abonnement)
22. Sparaci L, Northrup JB, Capirci O, Iverson JM. {{From Using Tools to Using Language in Infant Siblings of Children with Autism}}. {J Autism Dev Disord}. 2018.
Forty-one high-risk infants (HR) with an older sibling with autism spectrum disorder (ASD) were observed longitudinally at 10, 12, 18 and 24 months of age during a tool use task in a play-like scenario. Changes in grasp types and functional actions produced with a spoon were assessed during elicited tool use. Outcome and vocabulary measures were available at 36 months, distinguishing: 11 HR-ASD, 15 HR-language delay and 15 HR-no delay. Fewer HR-ASD infants produced grasp types facilitating spoon use at 24 months and functional actions at 10 months than HR-no delay. Production of functional actions in HR infants at 10 months predicted word comprehension at 12 months and word production at 24 and 36 months.
Lien vers le texte intégral (Open Access ou abonnement)
23. Stavropoulos KK, Carver LJ. {{Oscillatory rhythm of reward: anticipation and processing of rewards in children with and without autism}}. {Mol Autism}. 2018; 9: 4.
Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition, and multiple theories have emerged concerning core social deficits. While the social motivation hypothesis proposes that deficits in the social reward system cause individuals with ASD to engage less in social interaction, the overly intense world hypothesis (sensory over-responsivity) proposes that individuals with ASD find stimuli to be too intense and may have hypersensitivity to social interaction, leading them to avoid these interactions. Methods: EEG was recorded during reward anticipation and reward processing. Reward anticipation was measured using alpha asymmetry, and post-feedback theta was utilized to measure reward processing. Additionally, we calculated post-feedback alpha suppression to measure attention and salience. Participants were 6- to 8-year-olds with (N = 20) and without (N = 23) ASD. Results: Children with ASD showed more left-dominant alpha suppression when anticipating rewards accompanied by nonsocial stimuli compared to social stimuli. During reward processing, children with ASD had less theta activity than typically developing (TD) children. Alpha activity after feedback showed the opposite pattern: children with ASD had greater alpha suppression than TD children. Significant correlations were observed between behavioral measures of autism severity and EEG activity in both the reward anticipation and reward processing time periods. Conclusions: The findings provide evidence that children with ASD have greater approach motivation prior to nonsocial (compared to social) stimuli. Results after feedback suggest that children with ASD evidence less robust activity thought to reflect evaluation and processing of rewards (e.g., theta) compared to TD children. However, children with ASD evidence greater alpha suppression after feedback compared to TD children. We hypothesize that post-feedback alpha suppression reflects general cognitive engagement-which suggests that children with ASD may experience feedback as overly intense. Taken together, these results suggest that aspects of both the social motivation hypothesis and the overly intense world hypothesis may be occurring simultaneously.
Lien vers le texte intégral (Open Access ou abonnement)
24. Toseeb U, McChesney G, Wolke D. {{The Prevalence and Psychopathological Correlates of Sibling Bullying in Children with and without Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
Using data from a prospective population based study, the prevalence and psychopathological correlates of sibling bullying in children with and without autism spectrum disorder (ASD) were estimated. There were 475 children with ASD and 13,702 children without ASD aged 11 years. Children with ASD were more likely to be bullied by their siblings compared to those without ASD. They were also more likely than those without ASD to both bully and be bullied by their siblings, which was associated with lower prosocial skills as well as more internalizing and externalizing problems compared to those not involved in any sibling bullying. Interventions to improve social and emotional outcomes in children with ASD should focus on both the affected and the unaffected sibling.
Lien vers le texte intégral (Open Access ou abonnement)
25. Verhoeff ME, Blanken LME, Kocevska D, Mileva-Seitz VR, Jaddoe VWV, White T, Verhulst F, Luijk M, Tiemeier H. {{The bidirectional association between sleep problems and autism spectrum disorder: a population-based cohort study}}. {Mol Autism}. 2018; 9: 8.
Background: Sleep difficulties are prevalent in children with autism spectrum disorder (ASD). The temporal nature of the association between sleep problems and ASD is unclear because longitudinal studies are lacking. Our aim is to clarify whether sleep problems precede and worsen autistic traits and ASD or occur as a consequence of the disorder. Methods: Repeated sleep measures were available at 1.5, 3, 6, and 9 years of age in 5151 children participating in the Generation R Study, a large prospective birth cohort in the Netherlands. Autistic traits were determined with the Pervasive Developmental Problems score (PDP) of the Child Behavior Checklist (CBCL) at 1.5 and 3 years and the Social Responsiveness Scale (SRS) at 6 years. This cohort included 81 children diagnosed with ASD. Results: Sleep problems in early childhood were prospectively associated with a higher SRS score, but not when correcting for baseline PDP score. By contrast, a higher SRS score and an ASD diagnosis were associated with more sleep problems at later ages, even when adjusting for baseline sleep problems. Likewise, a trajectory of increasing sleep problems was associated with ASD. Conclusions: Sleep problems and ASD are not bidirectionally associated. Sleep problems do not precede and worsen autistic behavior but rather co-occur with autistic traits in early childhood. Over time, children with ASD have an increase in sleep problems, whereas typically developing children have a decrease in sleep problems. Our findings suggest that sleep problems are part of the construct ASD.
Lien vers le texte intégral (Open Access ou abonnement)
26. Wang W, Hu C, Bi X, Yuan H. {{[Analysis of 10 patients with duplications of 15q11q13 region and autism features]}}. {Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics}. 2018; 35(1): 23-8.
OBJECTIVE To analyze the clinical and genetic features of 10 unrelated patients with duplications of 15q11q13 region and autism features.METHODS Karyotyping,chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for the patients and their parents.RESULTS Eight patients presented with a supernumerary marker chromosome (SMC) of unknown origin by G-banding analysis and triplication of the 15q11q13 region by high-resolution CMA analysis. Two remaining patients had normal karyotypes but duplications of the 15q11q13 region. All duplications have encompassed the Prader Willi/Angelman syndrome critical region (PWACR). Similar gains in copy number were not detected among the parents of the patients,suggesting a de novo origin for them. Analysis of SNP-array data of the family trios using Chromosome Analysis Suite Software found that the copy number gains have originated from the mothers.The diagnosis of 15q11q13 duplication syndrome was ascertained. For patients with SMC detected by karyotyping analysis,a FISH assay using probes specific for the 15q11q13 region showed that such SMC also derived from chromosome 15q11q13 region and contained two copy numbers, which was consistent with the result of CMA.CONCLUSION Ten patients with autism and 15q11q13 duplications were identified with combined karyotyping, CMA and FISH analysis. A phenotype – genotype correlation was established.
Lien vers le texte intégral (Open Access ou abonnement)
27. Wolstencroft J, Robinson L, Srinivasan R, Kerry E, Mandy W, Skuse D. {{A Systematic Review of Group Social Skills Interventions, and Meta-analysis of Outcomes, for Children with High Functioning ASD}}. {J Autism Dev Disord}. 2018.
Group social skills interventions (GSSIs) are a commonly offered treatment for children with high functioning ASD. We critically evaluated GSSI randomised controlled trials for those aged 6-25 years. Our meta-analysis of outcomes emphasised internal validity, thus was restricted to trials that used the parent-report social responsiveness scale (SRS) or the social skills rating system (SSRS). Large positive effect sizes were found for the SRS total score, plus the social communication and restricted interests and repetitive behaviours subscales. The SSRS social skills subscale improved with moderate effect size. Moderator analysis of the SRS showed that GSSIs that include parent-groups, and are of greater duration or intensity, obtained larger effect sizes. We recommend future trials distinguish gains in children’s social knowledge from social performance.
Lien vers le texte intégral (Open Access ou abonnement)
28. Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL, Jr., Bi W. {{Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability}}. {Am J Med Genet A}. 2018.
SHANK3 encodes for a scaffolding protein that links neurotransmitter receptors to the cytoskeleton and is enriched in postsynaptic densities of excitatory synapses. Deletions or mutations in one copy of the SHANK3 gene cause Phelan-McDermid syndrome, also called 22q13.3 deletion syndrome, a neurodevelopmental disorder with common features including global developmental delay, absent to severely impaired language, autistic behavior, and minor dysmorphic features. By whole exome sequencing, we identified two de novo novel variants including one frameshift pathogenic variant and one missense variant of unknown significance in a 14-year-old boy with delayed motor milestones, delayed language acquisition, autism, intellectual disability, ataxia, progressively worsening spasticity of the lower extremities, dysmorphic features, short stature, microcephaly, failure to thrive, chronic constipation, intrauterine growth restriction, and bilateral inguinal hernias. Both changes are within the CpG island in exon 21, separated by a 375 bp sequence. Next generation sequencing of PCR products revealed that the two variants are most frequently associated with each other. Sanger sequencing of the cloned PCR products further confirmed that both changes were on a single allele. The clinical presentation in this individual is consistent with other patients with a truncating mutation in exon 21, suggesting that the missense change contributes none or minimally to the phenotypes. This is the first report of two de novo mutations in one SHANK3 allele.
