1. Alfonso-Alfonso M, Morales-Chacon LM, Gonzalez-Naranjo JE. {{Subjective Assessment of Sleep in Infantile Autism: A Comparative Study}}. {Behav Sci (Basel)}. 2019; 9(2).
Sleep disturbances are very common in children with autism; it is for this reason that instruments that facilitate their evaluation are necessary. OBJECTIVES: Perform sleep assessment from a subjective perspective in a group of children with primary autism and compare them with a control group, using the Sleep Habits in Children Survey (CSHQ), with the purpose of determining sleep disturbances according to the subscales used. METHOD: A prospective cross-sectional study was conducted in a group of 21 patients with primary autism. For the evaluation of sleep disturbances, we chose the CSHQ survey. The differences between the independent groups were calculated by applying a Mann(-)Whitney U test. RESULTS: In the group of children with autism, higher values of the total scale were observed in comparison with the control group (p = 0.00) which It is congruent with a large sleep dysfunction. Significant differences were observed for all subscales (p = 0.00), with the exception of the subscale number 7. CONCLUSIONS: A high presence of sleep disturbances was observed in children with primary autism, with the exception of sleep breathing disorders, which did not show significant differences between the groups.
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2. Benevides TW, Lee J, Nwosu NAO, Franks J. {{Understanding the Family Impact of Autism Spectrum Disorder in a Racially and Ethnically Diverse Sample: Findings from the National Survey of Children with Special Health Care Needs}}. {Maternal and child health journal}. 2019.
Objectives Caregivers of children with autism spectrum disorder (ASD) experience stress at greater rates than caregivers of other children with developmental conditions. Little is known about how families from different racial and ethnic backgrounds report family impact beyond individual stressors associated with caregiving. This paper aims to examine differences in family impact variables among caregivers of ASD children from different racial/ethnic backgrounds. Methods Using data from the 2005-2006 and 2009-2010 National Survey of Children with Special Health Care Needs, this retrospective, cross-sectional study examined family impact among caregivers of children with ASD. Family impact was defined as financial impact, time spent caregiving, and work impact variables and evaluated in five racial/ethnicity groups: white, non-Hispanic; any race, English-speaking Hispanic; any race, Spanish-speaking Hispanic; black, non-Hispanic; and other race, non-Hispanic respondents (n = 5115). Multivariate logistic regression was used to analyze the association of race and ethnicity with family impact variables while controlling for child and family covariates. Results Significant differences were found between race/ethnicity groups of caregivers on financial spending of more than $500 per year on care and providing more than 11 h a week on direct child care. No significant differences were observed in job impact variables between race/ethnicity groups. Conclusions for Practice Racial/ethnic differences exist in providing and spending more on direct care, but they do not necessarily represent disparities. More research is needed to fully understand if family impact is affected by cultural differences in care provided for children with ASD.
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3. Chetcuti L, Uljarevic M, Hudry K. {{Editorial Perspective: Furthering research on temperament in autism spectrum disorder}}. {J Child Psychol Psychiatry}. 2019; 60(2): 225-8.
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4. Chou MY, Chang NW, Chen C, Lee WT, Hsin YJ, Siu KK, Chen CJ, Wang LJ, Hung PL. {{The effectiveness of music therapy for individuals with Rett syndrome and their families}}. {Journal of the Formosan Medical Association = Taiwan yi zhi}. 2019.
BACKGROUND: Patients with Rett syndrome (RTT) present characteristic regression in communication and hand skills, which eventually leads to intellectual and physical disability. Moreover, caregivers of patients with RTT face stressors related to patients’ medical and developmental concerns. Given the indications from case reports, this pilot study investigated the effectiveness of music therapy on RTT patients, as well as on parental stress for families of children with RTT. METHODS: Families in the study group were enrolled in a twice-weekly 120-minute music therapy program for 24 weeks (n = 11), whereas families in the control group did not receive music therapy (n = 12). Participants were administered the Vineland Adaptive Behavior Scales, Rett Syndrome Clinical Severity Scale, Rett Syndrome Motor Behavioral Assessment, and Parenting Stress Index for caregivers of RTT children before and after the music therapy program. RESULTS: Music therapy improved receptive language, verbal and non-verbal communication skills, and social interaction for RTT patients. In addition, purposeful hand function, breathing patterns, and eye contact were significantly improved. Of note, music therapy also decreased the frequency of epileptic seizures. Lastly, caregivers in the study group exhibited significantly lower stress following the program. CONCLUSION: The 24-week music therapy program was effective in improving social interaction, communication skills, eye contact, hand function, and reducing seizure frequency among RTT patients. Additionally, music therapy was effective in relieving parenting stress, which may help healthcare providers initiate early intervention strategies that can prevent parenting stress and reduce the risk of depression.
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5. Clifford H, Dulneva A, Ponting CP, Haerty W, Becker EBE. {{A gene expression signature in developing Purkinje cells predicts autism and intellectual disability co-morbidity status}}. {Sci Rep}. 2019; 9(1): 485.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disease whose underpinning molecular mechanisms and neural substrates are subject to intense scrutiny. Interestingly, the cerebellum has emerged as one of the key brain regions affected in ASD. However, the genetic and molecular mechanisms that link the cerebellum to ASD, particularly during development, remain poorly understood. To gain insight into the genetic and molecular mechanisms that might link the cerebellum to ASD, we analysed the transcriptome dynamics of a developing cell population highly enriched for Purkinje cells of the mouse cerebellum across multiple timepoints. We identified a single cluster of genes whose expression is positively correlated with development and which is enriched for genes associated with ASD. This ASD-associated gene cluster was specific to developing Purkinje cells and not detected in the mouse neocortex during the same developmental period, in which we identified a distinct temporally regulated ASD gene module. Furthermore, the composition of ASD risk genes within the two distinct clusters was significantly different in their association with intellectual disability (ID), consistent with the existence of genetically and spatiotemporally distinct endophenotypes of ASD. Together, our findings define a specific cluster of ASD genes that is enriched in developing PCs and predicts co-morbidity status.
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6. Hedley D, Uljarevic M, Bury SM, Dissanayake C. {{Predictors of mental health and well-being in employed adults with autism spectrum disorder at 12-month follow-up}}. {Autism Res}. 2019.
People with Autism Spectrum Disorder (ASD) commonly experience poor outcomes in adulthood. Previous research on adult outcomes has focused on negative aspects of health and well-being, while positive well-being remains understudied. The current study charted 12-month change in daily living skills, job satisfaction, depression, anxiety, and positive well-being in 36 (32 male) newly employed adults with ASD aged 18 to 57 years who were participating in a supported employment program. There was a small increase in daily living skills, and a slight decrease in job satisfaction, with all other measures remaining stable over time. Regression analyses revealed that, controlling for baseline depression, positive well-being negatively predicted depression at follow-up. No significant predictors of anxiety were identified. Social support and depression at baseline were associated with positive well-being at follow-up; however, they were no longer significant predictors after the effects of baseline positive well-being were taken into account. The findings provide evidence that positive well-being may buffer against depression in people with ASD. Our finding of stability of mental health and well-being measures over time indicates more research is required to uncover the mechanisms underpinning mental health and well-being outcomes in employed adults with ASD. Autism Research 2019. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: People with autism commonly experience poor outcomes in adulthood. We studied mental health and well-being in newly employed adults with autism who were participating in a supported employment program. Apart from a slight increase in daily living skills and a slight decrease in job satisfaction, other measures of mental health and well-being remained stable over time. Our findings suggest that positive well-being may protect against symptoms of depression in people with autism.
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7. Herpers PCM, Bakker-Huvenaars MJ, Greven CU, Wiegers EC, Nijhof KS, Baanders AN, Buitelaar JK, Rommelse NNJ. {{Emotional valence detection in adolescents with oppositional defiant disorder/conduct disorder or autism spectrum disorder}}. {Eur Child Adolesc Psychiatry}. 2019.
Oppositional defiant disorder, conduct disorder (ODD/CD), and autism spectrum disorder (ASD) share poor empathic functioning and have been associated with impaired emotional processing. However, no previous studies directly compared similarities and differences in these processes for the two disorders. A two-choice emotional valence detection task requiring differentiation between positive, negative, and neutral IAPS pictures was administered to 52 adolescents (12-19 years) with ODD/CD, 52 with ASD and 24 typically developing individuals (TDI). Callous-unemotional (CU) traits were assessed by self- and parent reports using the Inventory of callous-unemotional traits. Main findings were that adolescents with ODD/CD or ASD both performed poorer than TDI in terms of accuracy, yet only the TDI-not both clinical groups-had relatively most difficulty in discriminating between positive versus neutral pictures compared to neutral-negative or positive-negative contrasts. Poorer performance was related to a higher level of CU traits. The results of the current study suggest youth with ODD/CD or ASD have a diminished ability to detect emotional valence which is not limited to facial expressions and is related to a higher level of CU traits. More specifically, youth with ODD/CD or ASD seem to have a reduced processing of positive stimuli and/or lack a ‘positive perception bias’ present in TDI that could either contribute to the symptoms and/or be a result of having the disorder and may contribute to the comorbidity of both disorders.
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8. Howard K, Katsos N, Gibson J. {{Using interpretative phenomenological analysis in autism research}}. {Autism}. 2019: 1362361318823902.
Qualitative studies within autism research are gaining prominence, yet there is little evidence about the usefulness of particular qualitative approaches in reflecting the perspectives and experiences of autistic participants. This short report serves to introduce interpretative phenomenological analysis as one among a range of qualitative approaches to autism research. We argue that certain features of interpretative phenomenological analysis, including its commitment to an equality of voice and researcher reflexivity, may help to illuminate the experiences of autistic individuals. The procedures of interpretative phenomenological analysis are presented through the lens of 10 studies into autistic people’s experiences, and a case is made for the suitability of this approach within qualitative autism research.
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9. Ilias K, Cornish K, Park MS, Toran H, Golden KJ. {{Risk and Resilience Among Mothers and Fathers of Primary School Age Children With ASD in Malaysia: A Qualitative Constructive Grounded Theory Approach}}. {Front Psychol}. 2018; 9: 2275.
Little is known about the coping and resilience experiences of parents of children with autism spectrum disorder (ASD) in the Malaysian cultural context. This study utilized a qualitative methodological approach adopting constructive grounded theory. The study sought to address the lack of research to date exploring the risk and protective experiences that contribute to parental stress and resilience for parents of primary school age children with ASD in the Malaysian setting. Twenty-two parents of children with ASD (13 mothers and 9 fathers) participated in semi-structured interviews. A strength of the study was the inclusion of both mother and father participant perspectives. The interviews lasted 50-80 min (mean: 67.5 min). The 22 parents had a total of 16 children (12 males; 4 females) formally diagnosed with ASD. Child age ranged between 5 and 12 years (mean age: 8.44). Overall, analysis of the 22 interviews revealed four prominent themes – « initial reaction to child’s ASD symptoms and diagnosis, » « family life affected by a child with ASD, » « awareness about ASD in Malaysia, » and « coping strategies, wellbeing, and becoming resilient. » The first three themes revolved around stress and adversity, and, the adaptability and acceptance of the parents. These processes illustrated the risks experienced by the parents of children with ASD in Malaysia. The last theme especially highlighted the strengths and determination of the parents and illustrated the protective experiences and processes that helped parents to develop and enhance resilience. Overall, the findings revealed that resilience develops synergistically and dynamically from both risk and protective experiences across different levels – individual, family, community, society and government. The findings motivated the development of our theoretical model of resilience that can help health and education professionals tailor assessment and interventions for parents of children with ASD in the Malaysian context. Clinical, policy, and research suggestions were discussed.
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10. Jordan AK, Thomeer ML, Lopata C, Donnelly JP, Rodgers JD, McDonald CA. {{Informant Discrepancies in the Assessment of Adaptive Behavior of Children with Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2019.
This study examined informant discrepancies for parent and teacher adaptive behavior ratings of 103 children, ages 6-12 years, with ASD (without intellectual disability). Scores on the Adaptive Behavior Assessment System, third edition (Harrison and Oakland, Western Psychological Services, Los Angeles, 2015) General Adaptive Composite (GAC) and practical, social, and conceptual domains were examined for mean differences, level of agreement, and moderators of difference scores between informant groups. Teacher scores were significantly higher (indicating better functioning) than parents for the GAC and practical domain. Parent and teacher scores were moderately correlated and Bland-Altman plots and regression analyses revealed no systematic differences in parent-teacher agreement across the range of scores. None of the tested variables moderated the parent-teacher difference scores. Implications for clinical practice are discussed.
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11. Kuiper MWM, Verhoeven EWM, Geurts HM. {{Stop Making Noise! Auditory Sensitivity in Adults with an Autism Spectrum Disorder Diagnosis: Physiological Habituation and Subjective Detection Thresholds}}. {J Autism Dev Disord}. 2019.
Auditory sensitivities are common among people with autism spectrum disorder diagnoses (ASD). As underlying factors are unknown, we examined whether ASD adults (NASD = 33; NTypically Developing = 31; 25-45 years; IQ > 70): (1) habituated slower to auditory stimuli; (2) had lower auditory detection thresholds; and (3) whether these mechanisms related to self-reported auditory sensitivities. Two auditory stimuli (tone, siren) were repeated, whilst skin conductance responses were recorded to measure habituation. Detection thresholds were measured by stepwise reductions in tone volume. We found no evidence in favor of our hypotheses, but ASD adults did rate the auditory stimuli as more arousing. Based on explorative analyses, we argue that studying the strength of physiological responses to auditory stimuli is needed to understand auditory sensitivities.
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12. Li Y, Mache MA, Todd TA. {{Complexity of Center of Pressure in Postural Control for Children With Autism Spectrum Disorders Was Partially Compromised}}. {Journal of applied biomechanics}. 2019: 1-20.
The purpose of this study was to compare the complexity of postural control between children with autism spectrum disorder (ASD) and typical developing children during altered visual and somatosensory conditions using the multiscale entropy. Eleven children with ASD and 11 typical developing children were tested during quiet standing under four conditions: (1) eyes open and standing on a stable surface; (2) eyes open and standing on a compliant surface; (3) eyes closed and standing on a stable surface and (4) eyes closed and standing on a compliant surface. The COP data were collected and multiscale entropy and sway area of COP were calculated. The ASD group exhibited lower complexity in mediolateral sway compared to typical developing children with a large effect size (partial eta(2) = 0.21). However, based on the different postural control modes, the anteroposterior sway complexity did not demonstrate a similar decrease for children with ASD. The altered visual or somatosensory conditions alone did not significantly affect the postural sway complexity. We concluded that the complexity of postural control for children with ASD was partially compromised. Reduced mediolateral sway complexity could potentially increase the risks of fall.
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13. Liu S, Li E, Sun Z, Fu D, Duan G, Jiang M, Yu Y, Mei L, Yang P, Tang Y, Zheng P. {{Altered gut microbiota and short chain fatty acids in Chinese children with autism spectrum disorder}}. {Sci Rep}. 2019; 9(1): 287.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by impairments in social interactions and communication, restricted interests and repetitive behaviors. Several studies report a high prevalence of gastrointestinal (GI) symptoms in autistic individuals. Cumulative evidence reveals that the gut microbiota and its metabolites (especially short-chain fatty acids, SCFAs) play an important role in GI disorders and the pathogenesis of ASD. However, the composition of the gut microbiota and its association with fecal SCFAs and GI symptoms of autistic children remain largely unknown. In the present study, we sequenced the bacterial 16S rRNA gene, detected fecal SCFAs, assessed GI symptoms and analyzed the relationship between the gut microbiome and fecal SCFAs in autistic and neurotypical individuals. The results showed that the compositions of the gut microbiota and SCFAs were altered in ASD individuals. We found lower levels of fecal acetic acid and butyrate and a higher level of fecal valeric acid in ASD subjects. We identified decreased abundances of key butyrate-producing taxa (Ruminococcaceae, Eubacterium, Lachnospiraceae and Erysipelotrichaceae) and an increased abundance of valeric acid associated bacteria (Acidobacteria) among autistic individuals. Constipation was the only GI disorder in ASD children in the present study. We also found enriched Fusobacterium, Barnesiella, Coprobacter and valeric acid-associated bacteria (Actinomycetaceae) and reduced butyrate-producing taxa in constipated autistic subjects. It is suggested that the gut microbiota contributes to fecal SCFAs and constipation in autism. Modulating the gut microbiota, especially butyrate-producing bacteria, could be a promising strategy in the search for alternatives for the treatment of autism spectrum disorder.
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14. Mollinedo P, Kapitansky O, Gonzalez-Lamuno D, Zaslavsky A, Real P, Gozes I, Gandarillas A, Fernandez-Luna JL. {{Cellular and animal models of skin alterations in the autism-related ADNP syndrome}}. {Sci Rep}. 2019; 9(1): 736.
Mutations in ADNP have been recently associated with intellectual disability and autism spectrum disorder. However, the clinical features of patients with this syndrome are not fully identified, and no treatment currently exists for these patients. Here, we extended the ADNP syndrome phenotype describing skin abnormalities in both a patient with ADNP syndrome and an Adnp haploinsufficient mice. The patient displayed thin dermis, hyperkeratotic lesions in periarticular areas and delayed wound healing. Patient-derived skin keratinocytes showed reduced proliferation and increased differentiation. Additionally, detection of cell cycle markers indicated that mutant cells exhibited impaired cell cycle progression. Treatment of ADNP-deficient keratinocytes with the ADNP-derived NAP peptide significantly reduced the expression of differentiation markers. Sonography and immunofluorescence staining of epidermal layers revealed that the dermis was thinner in the patient than in a healthy control. Adnp haploinsufficient mice (Adnp(+/-)) mimicked the human condition showing reduced dermal thickness. Intranasal administration of NAP significantly increased dermal thickness and normalized the levels of cell cycle and differentiation markers. Our observations provide a novel activity of the autism-linked ADNP in the skin that may serve to define the clinical phenotype of patients with ADNP syndrome and provide an attractive therapeutic option for skin alterations in these patients.
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15. Saha S, Saha T, Sinha S, Rajamma U, Mukhopadhyay K. {{Autistic traits and components of the folate metabolic system: an explorative analysis in the eastern Indian ASD subjects (dagger)}}. {Nutr Neurosci}. 2019: 1-8.
OBJECTIVES: Proper metabolism of the folate is crucial for maintaining DNA integrity, chromosome structure, methylation, as well as gene expression, and thus, folate is speculated to contribute to the etiology of different disorders. Since the etiology of autism spectrum disorder (ASD) is believed to be influenced by both genetic and environmental factors, we hypothesized that functional single nucleotide polymorphisms (SNPs) affecting folate metabolic pathway may have a causal role in the etiology of ASD. METHODS: We analyzed three SNPs, rs2071010, rs2298444 and rs1801198 (in the folate receptor 1, folate receptor 2 and transcobalamin 2, respectively), in 867 ethnically matched subjects including 206 ASD probands and 286 controls. Plasma vitamin B6 and folate were measured in age-matched probands and controls. RESULTS: ASD probands showed a higher frequency of rs2298444 ‘A’ allele (P = 0.01) and genotypes with ‘A’ allele (P = 0.03) when compared with the controls. rs1801198 ‘C’ allele and ‘CG’ genotype also showed higher occurrence in the probands (P = 0.009 and 0.005, respectively). Gender-based stratified analysis revealed a significant higher frequency of rs2298444 ‘A’ allele (P = 0.003), genotypes with rs2298444 ‘A’ allele (P = 0.003) and rs1801198 CG (P = 0.001) in the male probands. Studied variants also showed statistically significant associations with ASD-associated traits measured by the Childhood Autism Rating Scale. ASD subjects exhibited gross deficiency in vitamin B6 level when compared with age-matched controls (P < 0.001), which correlated with risk genetic variants. DISCUSSION: We infer from this pioneering study on eastern Indian subjects that vitamin B6 deficiency, along with risk gene variants, may affect ASD-associated symptoms, warranting further investigation in large cohorts. Lien vers le texte intégral (Open Access ou abonnement)
16. Scheidemantel T, Braun-Gabelman A, Stefanac K, Ruedrich S, Kotz M. {{Playing with a Stacked Deck: Literature Review and Case Series of Problem Gambling in Adults with Intellectual and Developmental Disabilities}}. {Journal of gambling studies}. 2019.
Problem gambling (PG) is associated with significant personal and societal loss. These losses may be exacerbated when a person with intellectual and developmental disabilities (IDD), who may not fully appreciate the inherent risks, engages in such behavior. Literature on this particular population is scarce, leaving the scientific community and treatment providers at a loss as to best practices. The present paper reviews three cases that illustrate common challenges faced by people with IDD and PG. Suggestions for effective prevention and treatment efforts are offered. Future directions include development of measures and instruments, with the eventual goal of effective prevention and treatment for this unique population.
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17. Shochet IM, Saggers BR, Carrington SB, Orr JA, Wurfl AM, Duncan BM. {{A Strength-Focused Parenting Intervention May Be a Valuable Augmentation to a Depression Prevention Focus for Adolescents with Autism}}. {J Autism Dev Disord}. 2019.
High depression rates for adolescents with autism indicate a need for a comprehensive prevention approach. Parents can promote parent-child factors that buffer adolescents from depression. However, parenting adolescents with autism presents challenges which can diminish parental self-efficacy and mental wellbeing with potential negative sequelae for their adolescents. This proof-of-concept study investigated the value of adding a strength-focused parenting intervention to a depression-prevention intervention for adolescents with autism. A Consensual Qualitative Research framework analysed 15 parents’ intervention experience. Parents reported that feeling isolated and unsupported by existing services motivated their participation, and they valued interacting with other parent participants. They also reported that the program enhanced wellbeing and parenting efficacy, reduced isolation, increased ability to parent calmly, and improved parent-adolescent relationships.
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18. Simpson K, Adams D, Alston-Knox C, Heussler HS, Keen D. {{Exploring the Sensory Profiles of Children on the Autism Spectrum Using the Short Sensory Profile-2 (SSP-2)}}. {J Autism Dev Disord}. 2019.
The aim of this study was to identify sensory subtypes in children on the autism spectrum using the Short Sensory Profile-2 (SSP-2). Caregivers of children on the autism spectrum aged 4-11 years (n = 271) completed the SSP-2. Analysis using Dirichlet process mixture model identified a two-cluster model which provided the best solution to subtype sensory responses. Two distinct subtypes were identified: Uniformly elevated (67%) with high scores across all quadrants and Raised avoiding and sensitivity (33%) with raised scores in the avoiding and sensitivity quadrants. There were no differences between subtypes based on chronological age and autism characteristics measured using the social communication questionnaire (total score). Based on the SSP-2, children were reported to experience differences in responses to sensory input, in particular in the area of sensitivity and avoiding.
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19. Trembath D, Westerveld MF, Teppala S, Thirumanickam A, Sulek R, Rose V, Tucker M, Paynter J, Hetzroni O, Keen D, Vivanti G. {{Profiles of vocalization change in children with autism receiving early intervention}}. {Autism Res}. 2019.
Children with autism spectrum disorder (ASD) commonly present with comorbid language impairment, negatively impacting their learning and participation across settings. Addressing these needs requires a detailed understanding of their communication trajectories. In this study, we used the language environment and analysis (LENA) system to examine possible changes in children’s (a) vocalizations and (b) ratio of speech to nonspeech vocalizations over a 10-month period. Data for 23 children with ASD (17M, 6F; ages 32-67 months) were analyzed, including monthly 3-hr in-class recordings and standardized measures of language, cognition, and ASD characteristics. Using hierarchical generalized linear models, we found significant time-trends for child vocalizations (P Lien vers le texte intégral (Open Access ou abonnement)
20. Trzmiel T, Purandare B, Michalak M, Zasadzka E, Pawlaczyk M. {{Equine assisted activities and therapies in children with autism spectrum disorder: A systematic review and a meta-analysis}}. {Complement Ther Med}. 2019; 42: 104-13.
INTRODUCTION: The multifactorial nature of Autism Spectrum Disorder (ASD) is the reason why complementary and alternative methods of treatment are sought in order to support the classic approach. OBJECTIVES: The aim of the study was to assess the effectiveness of Equine-Assisted Activities and Therapies (EAAT) in ASD patients based on a review of the literature. METHODS: A review of the literature and a meta-analysis were conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. PUBMED, Cochrane Library, Web of Science, ClinicalTrials.gov and PEDro databases were searched until July 20, 2017. Only articles published in English, in a journal with a review process, after 1999, with a control group or presentation of comparative pre-/post-therapy results in ASD patients, and clear inclusion/exclusion criteria were considered. The methodological quality of the included studies was assessed using the Quality Assessment Tool for Quantitative Studies (QATQS).The meta-analysis of three studies was conducted. RESULTS: A total of 15 studies with 390 participants (aged: 3-16 years) were included. The interaction between psychosocial functioning and EAAT was investigated in most studies. Improvement was reported in the following domains: socialization, engagement, maladaptive behaviors, and shorter reaction time in problem-solving situations after EAAT. The meta-analysis revealed no statistically significant differences for the investigated effects. CONCLUSIONS: Despite the need for further, more standardized research, the results of the studies included in this review allow us to conclude that EAAT may be a useful form of therapy in children with ASD.
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21. Vincent A, Da Fonseca D, Baumstarck K, Charvin I, Alcaraz-Mor R, Lehucher-Michel MP. {{The quality of life and the future of young adults with Asperger syndrome}}. {Disabil Rehabil}. 2019: 1-8.
PURPOSE: This pilot study describes the socio-professional development and quality of life of young adults with Asperger syndrome in France. METHODS: Those young adults, between 18 and 30 years old, receiving care in a child psychiatry department for autistic spectrum disorder, were requested to respond to the Ad Hoc, World Health Organization Quality Of Life – Bref and Copenhagen psychosocial questionnaires regarding their socio-professional background and feelings about their future. RESULTS: Of the 79 eligible subjects, 24 were selected to participate in our study. Their average age at the time of the pilot study was 22.2 years (standard deviation 3.4 years), and their average age when they were diagnosed was 17.5 years (standard deviation 3.7 years.). There were 54% who reported a psychiatric comorbidity anxiety disorder. Half stated they had completed secondary school and benefitted from being professionally employed. During this study, only six were employed, while the others remained financially dependent on their parents. The group’s quality of life self-assessment scores were significantly lower compared to the French general population in overall psychology (43.6 versus 68.7) and social relationships (48.9 versus 76.5). However, the study’s participants perceived work as an important means to their personal development. Hence, in order to cope with their difficulties, they hoped to benefit from customized support adapted to their autistic disorder and for their workplace colleagues to be better informed about Asperger syndrome. CONCLUSIONS: Our results are in line with international data. Additional studies need to be done in order to determine socio-professional integration factors and, in particular, the integration of potential contributions by occupational health departments with those social and medical teams supporting these young adults. Implications for rehabilitation Young adults with Asperger syndrome benefit from the support of their family in determining their professional goals. Support may be required to enhance social and communicative abilities to help integration. Employees would benefit from information on the syndrome and how best to support.
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22. Yasin H, Gibson WT, Langlois S, Stowe RM, Tsang ES, Lee L, Poon J, Tran G, Tyson C, Wong CK, Marra MA, Friedman JM, Zahir FR. {{A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8}}. {Journal of human genetics}. 2019.
A decade ago, we described novel de novo submicroscopic deletions of chromosome 14q11.2 in three children with developmental delay, cognitive impairment, and similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid’s bow of the upper lip, full lower lip, and auricular anomalies. We suggested that this constituted a new multiple congenital anomaly-intellectual disability syndrome due to defects in CHD8 and/or SUPT16H. The three patients in our original cohort were between 2 years and 3 years of age at the time. Here we present a fourth patient and clinical updates on our previous patients. To document the longitudinal course more fully, we integrate published reports of other patients and describe genotype-phenotype correlations among them. Children with the disorder present with developmental delay, intellectual disability, and/or autism spectrum disorder in addition to characteristic facies. Gastrointestinal and sleep problems are notable. The identification of multiple patients with the same genetic defect and characteristic clinical phenotype, confirms our suggestion that this is a syndromic disorder caused by haploinsufficiency or heterozygous loss of function of CHD8.
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23. Zhang L, Qin Y, Gong X, Peng R, Cai C, Zheng Y, Du Y, Wang H. {{A promoter variant in ZNF804A decreasing its expression increases the risk of autism spectrum disorder in the Han Chinese population}}. {Translational psychiatry}. 2019; 9(1): 31.
Synaptic pathology may be one of the cellular substrates underlying autism spectrum disorder (ASD). ZNF804A is a transcription factor that can affect or regulate the expression of many candidate genes involved in ASD. It also localizes at synapses and regulates neuronal and synaptic morphology. So far, few reports have addressed possible associations between ZNF804A polymorphisms and ASD. This study aimed to investigate whether ZNF804A genetic variants contribute to ASD susceptibility and its possible pathological role in the disorder. We analyzed the relationship of two polymorphisms (rs10497655 and rs34714481) in ZNF804A promoter region with ASD in 854 cases versus 926 controls. The functional analyses of rs10497655 were then performed using real-time quantitative polymerase chain reaction, electrophoretic mobility shift assays, chromatin immunoprecipitation and dual-luciferase assays. The variant rs10497655 was significantly associated with ASD (P = 0.007851), which had a significant effect on ZNF804A expression, with the T risk allele homozygotes related with reduced ZNF804A expression in human fetal brains. HSF2 acted as a suppressor by down-regulating ZNF804A expression and had a stronger binding affinity for the T allele of rs10497655 than for the C allele. This was the first experiment to elucidate the process in which a disease-associated SNP affects the level of ZNF804A expression by binding with the upstream regulation factor HSF2. This result indicates that the rs10497655 allelic expression difference of ZNF804A during the critical period of brain development may have an effect on postnatal phenotypes of ASD. It reveals new roles of ZNF804A polymorphisms in the pathogenesis of psychiatric disorders.
