1. Burrell A, Ives J, Unwin G. {{The Experiences of Fathers Who Have Offspring with Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jan 28)
Research exploring parents’ experiences of having offspring with autism spectrum disorder (ASD) currently underrepresents fathers. This study aimed to develop an understanding of the experience of fathers, with a view to facilitating improved support. Eight fathers participated in semi-structured interviews exploring their experiences of fathering children with ASD. Fathers described their experiences as a path towards acceptance, with independence and integration for their offspring being key goals. Fathers saw themselves as advocates fighting obstructive services to access appropriate care. The value placed on formal and informal support varied, although the need for personalised support was emphasised. Enabling fathers to see their experiences as a journey, whilst engaging them on the important topics of independence and integration, may improve their experience.
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2. Carmo JC, Duarte E, Souza C, Pinho S, Filipe CN. {{Brief Report: Testing the Impairment of Initiation Processes Hypothesis in Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jan 31)
In the present study we aim at providing further evidences for the validity of an initiation processes impairment in autism spectrum disorder (ASD). We applied different verbal fluency tasks designed to decrease or enhance this limitation. A group of high-functioning individuals with ASD and a group of typically developed individuals matched for -age, -IQ and -education, were tested in three verbal fluency tasks. In task 1, we replicated previous findings of an initiation impairment. In tasks 2 and 3, with simple manipulations, we observed that the differences between the groups were respectively eliminated or enhanced. We have not only provided further evidence of impairments in the initiation of a response, but we remarkably show how to circumvent them.
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3. Chiang HM, Ni X, Lee YS. {{Life Skills Training for Middle and High School Students with Autism}}. {J Autism Dev Disord};2017 (Jan 28)
This study investigated the extent to which life skills training was offered to middle and high school students with autism and life skills training needs after high school. A secondary analysis of the National Longitudinal Training Study-2 (NLTS-2) data was conducted in this study. This study found that the majority of the middle and high school students with autism (77.4%) had received life skills training in school. Receipt of life skills training differed across students’ gender, age, diagnosis of intellectual disability, and functional mental skills. Students received life skills training in general education classrooms, special education classrooms, individual instruction, and community settings. Life skills training was needed for the majority of the high school leavers with autism (78%).
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4. Chien YL, Wu SW, Chu CP, Hsieh ST, Chao CC, Gau SS. {{Attenuated contact heat-evoked potentials associated with sensory and social-emotional symptoms in individuals with autism spectrum disorder}}. {Sci Rep};2017 (Jan 31);7:36887.
Sensory disturbance is associated with socio-emotional problems in individuals with autism spectrum disorder (ASD). Most studies assess sensory symptoms by self-reports, which are largely limited by the language ability and self-awareness of the individuals. This study aims to investigate sensory disturbance by contact heat-evoked potentials (CHEP) in ASD individuals, and to examine the clinical correlates of CHEP parameters. We compared the CHEP parameters and reported pain between 31 ASD individuals (aged 20.5 +/- 5.2 years) and and 22 typically-developing controls (TD, aged 21.4 +/- 2.6), and correlated the CHEP parameters with self-reported sensory symptoms and attention/socio-emotional symptoms. We found that ASD individuals showed smaller P2-wave amplitudes than TD, even though they reported a similar level of pain. In TD individuals, a smaller P2-wave amplitude was related to higher scores on ‘low registration,’ ‘attention to detail,’ and ‘attention switching difficulties.’ In ASD individuals, longer N2-wave latency was related to higher scores on ‘sensory sensitivity’ and socio-emotional problems; while higher reported pain was associated with higher scores on ‘low registration,’ overall autistic severity, and longer N2-wave latency. Our findings of attenuated CHEP response in ASD, which was associated with sensory symptoms and socio-emotional problems, suggest a potential role for CHEP in studying sensory disturbances in ASD.
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5. Crawford H, Waite J, Oliver C. {{Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes}}. {J Autism Dev Disord};2017 (Jan 31)
Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein-Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive-compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive-compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive-compulsive subscales. The results highlight divergent profiles of anxiety symptomatology between these groups.
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6. Demily C, Poisson A, Peyroux E, Gatellier V, Nicolas A, Rigard C, Schluth-Bolard C, Sanlaville D, Rossi M. {{Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature}}. {BMC Med Genet};2017 (Jan 31);18(1):9.
BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome. CASE PRESENTATION: The patient presented with a complex phenotype including a particular cognitive profile with intellectual deficiency and autism spectrum disorder (ASD) with limited interests. Moreover, social anxiety disorder with selective mutism and separation anxiety disorder were observed (DSM-5 criteria, MINI Assessment). CONCLUSION: It is now admitted that 49,XYYYY has unique medical, neurodevelopmental and behavioural characteristics. Interestingly, ASD is more common in groups with Y chromosome aneuploidy. This clinical report suggests that understanding the cognitive and social functioning of these patients may provide new insights into possible therapeutic strategies, as cognitive remediation or social cognitive training.
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7. Ekas NV, McDonald NM, Pruitt MM, Messinger DS. {{Brief Report: The Development of Compliance in Toddlers at-Risk for Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jan 31)
Parents of children with autism spectrum disorder (ASD) report concerns with child compliance. The development of compliance in 24-, 30-, and 36-month-old high-risk children with ASD outcomes (n = 21), high-risk children without ASD (n = 49), and low-risk children (n = 41) was examined. The High-Risk/ASD group showed greater passive noncompliance at 24-months than the non-ASD groups and a smaller increase in compliance than the High-Risk/No ASD group. The High-Risk/ASD group also showed a smaller decline in active noncompliance than the Low-Risk group. After controlling for receptive language, the passive noncompliance findings were nonsignificant whereas compliance and active noncompliance findings retained significance. The growth of compliance is attenuated in children with ASD, while changes in passive noncompliance are in part associated with language comprehension.
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8. Factor RS, Ryan SM, Farley JP, Ollendick TH, Scarpa A. {{Does the Presence of Anxiety and ADHD Symptoms Add to Social Impairment in Children with Autism Spectrum Disorder?}}. {J Autism Dev Disord};2017 (Jan 28)
Children with autism spectrum disorder (ASD) experience internalizing and externalizing problems at higher rates than typically developing children, which could worsen social impairment. The present study compared impairment scores (social responsiveness scale, 2nd edition; SRS-2 scores) in 57 children (3-17 years, 82.5% male) with ASD, either with or without heightened levels of anxiety or ADHD symptoms, all per parent report. Children with heightened anxiety problems showed higher scores on four SRS-2 subscales (Social Cognition, Social Communication, Social Motivation, and Restricted Interests and Repetitive Behavior). Children with heightened ADHD traits showed higher scores on two subscales (Social Communication and Social Awareness). These findings suggest similarities and differences in how social deficits in ASD may worsen with anxiety or ADHD symptoms.
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9. Getahun D, Fassett MJ, Peltier MR, Wing DA, Xiang AH, Chiu V, Jacobsen SJ. {{Association of Perinatal Risk Factors with Autism Spectrum Disorder}}. {Am J Perinatol};2017 (Jan 31)
Objective To examine the association between exposures to perinatal factors and autism spectrum disorders (ASD). Study Design A retrospective cohort study of ASD among children born in Kaiser Permanente Southern California hospitals between 1991 and 2009 (n = 594,638). Medical records were used to determine exposure to perinatal (antepartum and intrapartum) complications. ASD was diagnosed using DSM-IV criteria. Multivariable Cox regression was used to estimate hazard ratios (HRs). Result Children with ASD were more likely to be exposed to perinatal complications (HR = 1.15, 95% confidence interval [CI]: 1.09-1.21) than neurotypical children. Children exposed to antepartum (HR = 1.22, 95% CI: 1.10-1.36) and intrapartum (HR = 1.10, 95% CI: 1.04-1.17) complications were at increased risk of ASD. The risk was even greater when both antepartum and intrapartum conditions were present (HR = 1.44, 95% CI: 1.26-1.63). Conclusion Exposure to antepartum or intrapartum complications increases the risk of ASD in the offspring. Therefore, pregnancy complications may help identify children who could benefit from early screening and intervention for this common neurodevelopmental condition.
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10. Krasileva KE, Sanders SJ, Bal VH. {{Peabody Picture Vocabulary Test: Proxy for Verbal IQ in Genetic Studies of Autism Spectrum Disorder}}. {J Autism Dev Disord};2017 (Jan 28)
This study assessed the utility of a brief assessment (the Peabody Picture Vocabulary Test-4th Edition; PPVT4) as a proxy for verbal IQ (VIQ) in large-scale studies of autism spectrum disorder (ASD). In a sample of 2,420 proband with ASD, PPVT4:IQ correlations were strong. PPVT4 scores were, on average, 5.46 points higher than VIQ; 79% of children had PPVT4 scores within one standard deviation (+/-15) of their VIQ and 90% were similarly classified as having abilities above or below 70 on both measures. Distributions of PPVT4 and VIQ by de novo mutation status were highly similar. These results strongly support the utility of PPVT4 as a proxy for VIQ in large-scale ASD studies, particularly for genetic investigations.
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11. Lane JB, Salter AR, Jones NE, Cutter G, Horrigan J, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK. {{Assessment of Caregiver Inventory for Rett Syndrome}}. {J Autism Dev Disord};2017 (Jan 28)
Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi square or Fisher’s exact test for categorical variables and t tests or Wilcoxon two-sample tests for continuous variables were utilized. Survey completed by 198 caregivers; 70 caregivers completed follow-up assessment. Exploratory factor analysis revealed good agreement for physical burden, emotional burden, and social burden. Internal reliability was high (Cronbach’s alpha 0.898). RTT CIA represents a reliable and valid measure, providing a needed metric of caregiver burden in this disorder.
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12. Lin SC, Gold RS. {{Assistive Technology Needs, Functional Difficulties, and Services Utilization and Coordination of Children with Developmental Disabilities in the United States}}. {Assist Technol};2017 (Jan 31):1-7.
Assistive technology (AT) enhances the ability of individuals with disabilities to be fully engaged in activities at home, at school, and within their communities-especially for children with developmental disabilities (DD) with physical, sensory, learning, and/or communication impairments. The prevalence of children with DD in the United States has risen from 12.84% in 1997 to 15.04% in 2008. Thus, it is important to monitor the status of their AT needs, functional difficulties, services utilization, and coordination. Using data from the 2009-2010 National Survey on Children with Special Health Care Needs (NS-CSHCN), we conducted bivariate and multivariate statistical analysis, which found that 90% or more of parents of both children with DD and other CSHCN reported that their child’s AT needs were met for vision, hearing, mobility, communication, and durable medical equipment; furthermore, children with DD had lower odds of AT needs met for vision and hearing and increased odds for meeting AT needs in mobility and communication. Our findings outline the current AT needs of children with DD nationally. Fulfilling these needs has the potential to engender positive lifelong effects on the child’s disabilities, sense of independence, self-confidence, and productivity.
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13. Nagode DA, Meng X, Winkowski DE, Smith E, Khan-Tareen H, Kareddy V, Kao JP, Kanold PO. {{Abnormal Development of the Earliest Cortical Circuits in a Mouse Model of Autism Spectrum Disorder}}. {Cell Rep};2017 (Jan 31);18(5):1100-1108.
Autism spectrum disorder (ASD) involves deficits in speech and sound processing. Cortical circuit changes during early development likely contribute to such deficits. Subplate neurons (SPNs) form the earliest cortical microcircuits and are required for normal development of thalamocortical and intracortical circuits. Prenatal valproic acid (VPA) increases ASD risk, especially when present during a critical time window coinciding with SPN genesis. Using optical circuit mapping in mouse auditory cortex, we find that VPA exposure on E12 altered the functional excitatory and inhibitory connectivity of SPNs. Circuit changes manifested as « patches » of mostly increased connection probability or strength in the first postnatal week and as general hyper-connectivity after P10, shortly after ear opening. These results suggest that prenatal VPA exposure severely affects the developmental trajectory of cortical circuits and that sensory-driven activity may exacerbate earlier, subtle connectivity deficits. Our findings identify the subplate as a possible common pathophysiological substrate of deficits in ASD.
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14. Reed P. {{Over-Selectivity is Related to Autism Quotient and Empathizing, But not to Systematizing}}. {J Autism Dev Disord};2017 (Jan 28)
The relationships of autism quotient (AQ), systematizing (SQ), and empathizing (EQ), with over-selectivity were explored to assess whether over-selectivity is implicated in complex social skills, which has been assumed, but not experimentally examined. Eighty participants (aged 18-60) were trained on a simultaneous discrimination task (AB+CD-), and tested in extinction on the degree to which they had learned about both elements of the reinforced (AB) compound. Higher AQ and lower EQ scorers demonstrated greater over-selectivity, but there was no relationship between SQ and over-selectivity. These results imply that high AQ scorers perform similarly to individuals with ASD on this cognitive task, and that over-selectivity may be related to some complex social skills, like empathy.
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15. Roberts N, Birmingham E. {{Mentoring University Students with ASD: A Mentee-centered Approach}}. {J Autism Dev Disord};2017 (Jan 28)
This study presents a conceptual understanding of how mentorship is experienced by the participants of a mentorship program for university students with Autism Spectrum Disorder. We interviewed the participants of the Autism Mentorship Initiative at Simon Fraser University. A grounded theory approach was used to systematically organize data from interviews and documents to reveal themes that were salient to the mentees (students with autism; n = 9) and mentors (neurotypical students; n = 9). The following five main themes were identified and interrelated under the core theme of A Mentee-centered Approach: (1) The Natural Progression of the Relationship, (2) The Supportive Mentor, (3) The Meeting Process, (4) Identifying and Implementing Goals, and (5) Learning Together. An in-depth analysis of a mentorship process is described.
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16. Soderqvist H, Kajsa E, Ahlstrom BH, Wentz E. {{The caregivers’ perspectives of burden before and after an internet-based intervention of young persons with ADHD or autism spectrum disorder}}. {Scand J Occup Ther};2017 (Jan 31):1-10.
BACKGROUND: Everyday life in a family with a young person with attention-deficit/hyperactivity disorder (ADHD) and/or autism spectrum disorder (ASD), is multifaceted and may be a burden to the caregivers. The aim was to explore experiences of the caregiver situation, and how they were affected when the young persons received Internet-Based Support and Coaching (IBSC). METHOD: A multiple descriptive case design was used. Ten caregivers of 10 young persons with ADHD and/or ASD participated, and completed a questionnaire, measuring caregiver burden. Three analysis methods were used; statistical analysis of the caregivers’ scores, case reports and qualitative content analysis of an open question. RESULTS: Most of the caregivers never had to provide hands-on help with primary ADL, and were able to cope with the young person’s problems. The caregivers’ role required patience. They had major worries about the future, when they would no longer be around to provide support. After the intervention, there was no common trajectory for all caregivers; their situation either remained unchanged, improved or deteriorated. CONCLUSIONS: The caregiver’s burden is more or less complex when the young person undergoes the transition into adulthood. The caregiver burden decreased in some families following the young person’s participation in IBSC.
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17. Tzeng CC, Tsai LP, Chang YK, Hung YJ, Chang YY, Su YP, Jiang JJ, Liang HM. {{A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan}}. {Clin Genet};2017 (Jan 31)
Here, we review the results of Southern blotting analyses of the FMR1 gene performed in our reference laboratory in Taiwan over a 15-year period. In total, 725 high-risk women with a family history of fragile X syndrome (FXS) or idiopathic intellectual disability, 3,911 low-risk pregnant women without such family history, and prenatal diagnosis data for 32 foetuses from 24 carrier mothers were included. Only two carriers were in the low-risk group, which indicated a prevalence of 1/1,955 women (95% confidence interval: 1/7,156-1/539). One hundred carriers were found to be in the high-risk group, thus revealing a significantly higher frequency than the low-risk group (100/725 vs. 2/3,911, P<0.0001). Eight of the 14 foetuses that inherited the maternal mutant allele were verified to have a full mutation, with the smallest maternal premutation allele carrying 56 CGG repeats. The overall findings confirmed that the carrier prevalence among low-risk women in Taiwan is significantly lower than that reported in western countries. Therefore, the most important step for preventing FXS in Taiwan would be to focus on high-risk women by promoting general awareness of this disease and spreading knowledge regarding the benefits of carrier screening and prenatal testing. Lien vers le texte intégral (Open Access ou abonnement)
18. Wallach E, Bieth E, Sevely A, Cances C. {{[Fragile X syndrome and white matter abnormalities: Case study of two brothers]}}. {Arch Pediatr};2017 (Jan 25)
Fragile X syndrome is the most usual cause of hereditary intellectual deficiency. Typical symptoms combine intellectual deficiency, social anxiety, intense emotional vigilance, and a characteristic facial dysmorphy. This is subsequent to a complete mutation of the FMR1 gene, considering a semidominant transmission linked to the unstable X. The expansion of the CGG triplet greater than 200 units combined with a high methylation pattern lead to a transcriptional silence of the FMR1 gene, and the protein product, the FMRP, is not synthesized. This protein is involved in synaptic plasticity. Brain MRI can show an increased volume of the caudate nucleus and hippocampus, combined with hypoplasia of the cerebellar vermis. Fragile X Associated Tremor Ataxia Syndrome (FXTAS) syndrome is a neurodegenerative disorder occurring in carriers of the premutation in FMR1. Brain MRI shows an increased T2 signal in the middle cerebellar peduncles. This syndrome is linked to a premutation in the FMR1 gene. We report here the case of two brothers presenting a typical fragile X symptomatology. Brain MRI showed hyperintensities of the middle cerebellar peduncles. Such MRI findings support the assumption of a genetic mosaicism.
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19. Wendorf Muhamad J, Yang F. {{Framing Autism: A Content Analysis of Five Major News Frames in U.S.-Based Newspapers}}. {J Health Commun};2017 (Jan 31):1-8.
The portrayal of child autism-related news stories has become a serious issue in the United States, yet few studies address this from media framing perspective. To fill this gap in the literature, this study examined the applicability of a media framing scale (Semetko & Valkenburg, 2000) for the deductive examination of autism-related news stories in U.S.-based newspapers. Under the theoretical framework of framing theory, a content analysis of news stories (N = 413) was conducted to investigate the presence of the five news frames using an established questionnaire. Differentiating between local and national news outlets, the following five news frames were measured: (a) attribution of responsibility, (b) human interest, (c) conflict, (d) morality, and (e) economic consequences. Findings revealed that news stories about autism most frequently fell within the human interest frame. Furthermore, the study shed light on how local and national newspapers might differ in framing autism-related news pieces and in their placement of the autism-related story within the newspaper (e.g., front page section, community section).
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20. Willfors C, Carlsson T, Anderlid BM, Nordgren A, Kostrzewa E, Berggren S, Ronald A, Kuja-Halkola R, Tammimies K, Bolte S. {{Medical history of discordant twins and environmental etiologies of autism}}. {Transl Psychiatry};2017 (Jan 31);7(1):e1014.
The environmental contributions to autism spectrum disorder (ASD) and their informative content for diagnosing the condition are still largely unknown. The objective of this study was to investigate associations between early medical events and ASD, as well as autistic traits, in twins, to test the hypothesis of a cumulative environmental effect on ASD risk. A total of 80 monozygotic (MZ) twin pairs (including a rare sample of 13 twin pairs discordant for clinical ASD) and 46 dizygotic (DZ) twin pairs with varying autistic traits, were examined for intra-pair differences in early medical events (for example, obstetric and neonatal factors, first year infections). First, differences in early medical events were investigated using multisource medical records in pairs qualitatively discordant for ASD. The significant intra-pair differences identified were then tested in relation to autistic traits in the remaining sample of 100 pairs, applying generalized estimating equations analyses. Significant association of the intra-pair differences in the MZ pairs were found for the cumulative load of early medical events and clinical ASD (Z=-2.85, P=0.004) and autistic traits (beta=78.18, P=0.002), as well as infant dysregulation (feeding, sleeping abnormalities, excessive crying and worriedness), when controlling for intelligence quotient and attention deficit hyperactivity disorder comorbidity. The cumulative load of early medical events in general, and infant dysregulation in particular, may index children at risk of ASD owing to non-shared environmental contributions. In clinical practice, these findings may facilitate screening and early detection of ASD.
