1. Budd MA, Calli K, Samson L, Bowes J, Hsieh AYY, Forbes JC, Bitnun A, Singer J, Kakkar F, Alimenti A, Maan EJ, Lewis MES, Gentile C, Cote HCF, Brophy JC. {{Blood Mitochondrial DNA Content in HIV-Exposed Uninfected Children with Autism Spectrum Disorder}}. {Viruses}. 2018; 10(2).
Long-term outcomes of perinatal exposure to maternal antiretroviral therapy in HIV-exposed uninfected (HEU) children are unknown. However, both HIV antiretroviral therapy and autism spectrum disorder (ASD) have been associated with mitochondrial alterations. Leukocyte mitochondrial DNA (mtDNA) content can serve as a marker for mitochondrial dysfunction. In this cross-sectional, nested case-control study, HEU children with ASD were matched approximately 1:3 on age, sex, and ethnicity to HEU children without ASD, HIV-unexposed uninfected (HUU) controls, and HUU children with ASD. Leukocyte mtDNA content was measured using quantitative PCR. Among 299 HEU in this study, 14 (4.7%) were diagnosed with ASD, which is higher than the general population prevalence estimates. HEU children without ASD and HUU children with ASD had higher mtDNA content than HUU controls. HEU children with ASD had significantly higher mtDNA content than all other study groups. Our results suggest a clear association between elevated leukocyte mtDNA content and both HEU and ASD status. This may implicate mitochondrial dysfunction as a contributor to the high ASD prevalence observed in our cohort.
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. Cosemans N, Vandenhove L, Maljaars J, Van Esch H, Devriendt K, Baldwin A, Fryns JP, Noens I, Peeters H. {{ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder}}. {European journal of medical genetics}. 2018.
We describe a patient with a de novo balanced translocation 46,XY,t(9; 13)(q31.2; q22.1) and autism spectrum disorder, intellectual disability, a metopic craniosynostosis, a corpus callosum dysgenesis and dysmorphic facial features, most notably ptosis. Breakpoint mapping was performed by means of targeted locus amplification (TLA) and sequencing, because conventional breakpoint mapping by means of fluorescent in situ hybridization and long-range PCR was hampered by a complex submicroscopic rearrangement. The translocation breakpoints directly affected the genes KLF12 (chromosome 13) and ZNF462 (chromosome 9). The latter gene was disrupted by multiple breakpoints, resulting in the loss of three fragments and a rearrangement of the remaining fragments. Therefore, haploinsufficiency of ZNF462 was assumed. Loss-of-function variants in ZNF462 have recently been published by Weiss et al. (2017) in a series of eight patients from six independent families delineating the ZNF462-associated phenotype. The latter closely matches with the clinical features of the current translocation patient. Besides, no direct evidence for an association of KLF12 to the phenotypic features was found. Therefore, we conclude that the phenotype of the current patient is mainly caused by the disruption of ZNF462. We present clinical data from birth to adulthood and data on the cognitive and behavioral profile of the current patient which may add to a more precise counseling and surveillance of development in young children with ZNF462 mutations. In addition, the current case illustrates that TLA is an efficient method for determining complex chromosomal breakpoints.
Lien vers le texte intégral (Open Access ou abonnement)
4. Doenyas C. {{Gut Microbiota, Inflammation, and Probiotics on Neural Development in Autism Spectrum Disorder}}. {Neuroscience}. 2018; 374: 271-86.
Recent evidence implicates immune alterations and gut microbiota dysbiosis in at least some subpopulations of individuals with autism spectrum disorder (ASD). Immune and gut alterations in ASD have mostly been studied separately, and the reviews and theoretical models up to now have mainly considered the immune system as one of the routes for gut-brain communication. We take a different perspective and consider possible common mechanisms of action for the gut microbiota and inflammation on the neural basis of ASD. We propose these to be their effects on ASD-susceptibility genes, neurodevelopment, and intestinal and blood-brain barrier integrity. We then use these common mechanisms to offer pathways for potentially beneficial effects of early-life probiotics on the neural development in ASD. This new perspective yields a conceptual framework for creating effective preventions for mothers at risk of giving birth to children with ASD. Such a framework may also inform effective interventions targeting these common mechanisms of action, which may be shared in many ASD cases regardless of their different etiological profiles. Probiotics may be one example of such preventions and interventions. Finally, the common mechanisms offered by this perspective can be useful in the search of comprehensive theories that can account for the complete neurobiological and behavioral symptoms of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
5. Goldsmith SF, Kelley E. {{Associations Between Emotion Regulation and Social Impairment in Children and Adolescents with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2018.
In typically-developing (TD) individuals, effective emotion regulation strategies have been associated with positive outcomes in various areas, including social functioning. Although impaired social functioning is a core criterion of Autism Spectrum Disorder (ASD), the role of emotion regulation ability in ASD has been largely ignored. This study investigated the association between emotion regulation and ASD symptomatology, with a specific emphasis on social impairment. We used parent-report questionnaires to assess the regulatory strategies and symptom severity of 145 youth with ASD. Results showed that: (1) more effective emotion regulation, defined by greater use of reappraisal, predicted less severe ASD symptomatology, and (2) greater use of reappraisal predicted less severe social impairment. Suppression was not predictive of general symptomatology or social functioning.
Lien vers le texte intégral (Open Access ou abonnement)
6. 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)
7. Heylens G, Aspeslagh L, Dierickx J, Baetens K, Van Hoorde B, De Cuypere G, Elaut E. {{The Co-occurrence of Gender Dysphoria and Autism Spectrum Disorder in Adults: An Analysis of Cross-Sectional and Clinical Chart Data}}. {J Autism Dev Disord}. 2018.
Quantitative studies indicate an overrepresentation of ASD in individuals with GD. This study aims to determine the prevalence of autistic traits or ASD in adults with GD using two different data collection methods: (1) cross-sectional data using the social responsiveness scale-adults (SRS-A) and the autism quotient (AQ) (n = 63). (2) Clinical chart data (n = 532). Mean SRS-A scores were significantly higher compared to a norm population. Almost 5% of the patients with GD scored above the cut-off as measured by the AQ. In 32 patients (6%), a certain ASD diagnosis was found in the patient files, which is sixfold higher compared to the general population. Significantly more « birth assigned male » were affected compared to « birth assigned female ».
Lien vers le texte intégral (Open Access ou abonnement)
8. Li H, Fujiura G, Magana S, Parish S. {{Health care expenditures of overweight and obese U.S. adults with intellectual and developmental disabilities}}. {Res Dev Disabil}. 2018; 75: 1-10.
BACKGROUND: U.S. adults with intellectual and developmental disabilities (IDD) have poorer health status and greater risks for being overweight and obese, which are major drivers of health care expenditures in the general population. Health care expenditures and IDD have not been studied using nationally representative samples, and the impact of overweight and obesity have not been examined. AIM: Using nationally representative data, we aimed to compare the health care expenditures of not-overweight, overweight and obese U.S. adults with IDD, and calculate model-adjusted expenditures. METHODS AND PROCEDURES: Pooled data from the 2002-2011 Medical Expenditure Panel Survey linked to National Health Interview Survey (n=1224) were analyzed. Two-part model regressions were conducted, with covariates being year of survey, age, sex, race/ethnicity, household income status, geographical region, urban/rural, marital status, insurance coverage, perceived health status, and perceived mental health status. OUTCOMES AND RESULTS: Overall, obese adults with intellectual and developmental disabilities had higher expenditures than their non-obese peers. Being obese was associated with an estimated additional $2516 in mean expenditures and $1200 in median expenditures compared with the reference group, who were neither overweight nor obese. CONCLUSIONS AND IMPLICATIONS: Obesity is an important predictor of higher health care costs among community-living adults with IDD Finding effective strategies and interventions to address obesity in this population has great financial and policy significance.
Lien vers le texte intégral (Open Access ou abonnement)
9. Little LM, Pope E, Wallisch A, Dunn W. {{Occupation-Based Coaching by Means of Telehealth for Families of Young Children With Autism Spectrum Disorder}}. {Am J Occup Ther}. 2018; 72(2): 7202205020p1-p7.
OBJECTIVE: We investigated the efficacy of Occupation-Based Coaching delivered via telehealth for families of young children with autism spectrum disorder (ASD). METHOD: Participants were 18 families of children with ASD ages 2-6 yr. We used descriptive statistics to understand intervention characteristics and paired-sample t tests to examine changes in parent efficacy and child participation. RESULTS: Parents identified many areas of child adaptive behavior as intervention goals. Results showed that parent efficacy and various domains of child participation significantly increased postintervention (both ps < .05). Additionally, children showed significant gains in parent-identified goals. CONCLUSION: Occupation-Based Coaching delivered via telehealth appears to be an effective method of intervention to increase parent efficacy and child participation among families of children with ASD. Occupational therapists may consider how telehealth may be used to provide intervention to an increased number of families, in particular those in underserved areas. Lien vers le texte intégral (Open Access ou abonnement)
10. Mehrazad-Saber Z, Kheirouri S, Noorazar SG. {{Effects of L- Carnosine Supplementation on Sleep Disorders and Disease Severity in Autistic Children: A Randomized, Controlled Clinical Trial}}. {Basic & clinical pharmacology & toxicology}. 2018.
Sleep disorders are frequently reported in autistic patients. Evidences suggest that increased oxidative stress and reduced antioxidants may play a major role in the pathogenesis of these disorders. Carnosine acts as an antioxidant, antitoxic and neuroprotective agent. The aim of this trial study was to examine the effects of carnosine supplementation on the sleep disorders and severity of autism core symptoms in autistic patients. In this double-blind, randomized clinical trial, 43 autistic patients (31 boys and 12 girls; aged 4 to 16 years) were divided into two groups of carnosine and control that received 500 mg of carnosine and 500 mg of placebo per day for two months, respectively. Sleep disorders was measured using Children’s Sleep Habits Questionnaires. Gilliam Autism Rating Scale 2 was used to assess the effects of carnosine supplementation on the autism severity. Carnosine supplementation did not change anthropometric indices (p>0.05) and showed no effect on autism severity (p>0.05), whereas it significantly reduced sleep duration (p=0.04), parasomnias (p=0.02) and total sleep disorders score by 7.59% (p=0.006) when compared with the control group. The results suggest that carnosine supplementation could be effective in improving sleep disturbances, in particular sleep duration and parasomnias subscales. This article is protected by copyright. All rights reserved.
Lien vers le texte intégral (Open Access ou abonnement)
11. 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)
12. 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)
13. Zhang R, Zhou J, Ren J, Sun S, Di Y, Wang H, An X, Zhang K, Zhang J, Qian Z, Shi M, Qiao Y, Ren W, Tian Y. {{Transcriptional and splicing dysregulation in the prefrontal cortex in valproic acid rat model of autism}}. {Reproductive toxicology (Elmsford, NY)}. 2018; 77: 53-61.
Gene-environmental interaction could be the major cause of autism. The aim of the current study is to detect the effects of valproic acid on gene expression profiles and alternatively spliced genes in the prefrontal cortex in rat models of autism. Female rats received a single intraperitoneal injection of 600mg/kg valproic acid at day 12.5 post-conception, and controls were injected with saline. Only male offspring were employed in the current study. RNA sequencing was used to investigate transcriptome in the prefrontal cortex of VPA-exposed rats. There were 3228 differently expressed genes and 637 alternative spliced genes, in VPA rats compared to controls. Pathways enrichment among the differently expressed genes and alternatively spliced genes were associated with neurological diseases and neural system development. The results implied VPA affected transcriptional and splicing events genome-wide and the transcriptional and splicing events may be associated with the autistic behaviors of VPA rats.
