1. Bener A, Khattab AO, Bhugra D, Hoffmann GF. {{Iron and vitamin D levels among autism spectrum disorders children}}. {Ann Afr Med}. 2017; 16(4): 186-91.
AIM: The aim of this study was to investigate iron deficiency anemia and Vitamin D deficiency among autism children and to assess the importance of risk factors (determinants). SUBJECTS AND METHODS: This was a case-control study conducted among children suffering from autism at the Hamad Medical Corporation in Qatar. A total of 308 cases and equal number of controls were enrolled. The Autism Diagnostic Observation Schedule-Generic was the instrument used for diagnosis of Autism. RESULTS: The mean age (+/-standard deviation, in years) for autistic versus control children was 5.39 +/- 1.66 versus 5.62 +/- 1.81, respectively. The mean value of serum iron levels in autistic children was severely reduced and significantly lower than in control children (74.13 +/- 21.61 mug/dL with a median 74 in autistic children 87.59 +/- 23.36 mug/dL in controls) (P = 0.003). Similarly, the study revealed that Vitamin D deficiency was considerably more common among autistic children (18.79 +/- 8.35 ng/mL) as compared to healthy children (22.18 +/- 9.00 ng/mL) (P = 0.004). Finally, mean values of hemoglobin, ferritin, magnesium; potassium, calcium; phosphorous; glucose, alkaline phosphate, hematocrit, white blood cell, and mean corpuscular volume were all statistically significantly higher in healthy control children as compared to autistic children (P < 0.001). Multivariate logistic regression analysis revealed that serum iron deficiency, serum calcium levels, serum Vitamin D levels; ferritin, reduced physical activity; child order, body mass index percentiles, and parental consanguinity can all be considered strong predictors and major factors associated with autism spectrum disorders. CONCLUSION: This study suggests that deficiency of iron and Vitamin D as well as anemia were more common in autistic compared to control children. Lien vers le texte intégral (Open Access ou abonnement)
2. Berridge MJ. {{Vitamin D deficiency: infertility and neurodevelopmental diseases (attention deficit hyperactivity disorder, autism and schizophrenia)}}. {Am J Physiol Cell Physiol}. 2017: ajpcell 00188 2017.
The process of development depends on a progressive sequence of events that are carefully orchestrated by a number of signalling systems. Alteration in these signalling events results in infertility and neurodevelopmental diseases such as attention deficit hyperactivity disorder (ADHD), autism spectrum disorders (ASD) and schizophrenia. A prominent role throughout development beginning at fertilization and continuing through early development, implantation and organ differentiation such as heart and brain development is regulated by Ca2+ signalling. There is increasing evidence that Vitamin D plays a major role in regulating these developmental processes. When Vitamin D is deficient, there is an increase in infertility and an onset of neurodevelopmental diseases. The aim of this review is to describe why Vitamin D deficiency has such a serious effect on development. The main conclusion is that one of the primary functions of Vitamin D is to maintain the phenotypic stability of both the Ca2+ and redox signalling pathways that play such a key role throughout development.
Lien vers le texte intégral (Open Access ou abonnement)
3. Blacher J, Baker BL. {{Collateral Effects of Youth Disruptive Behavior Disorders on Mothers’ Psychological Distress: Adolescents with Autism Spectrum Disorder, Intellectual Disability, or Typical Development}}. {J Autism Dev Disord}. 2017.
Disruptive behavior disorders were assessed in 160 youth aged 13 years, with Autism Spectrum Disorder (ASD, n = 48), intellectual disability (ID, n = 28), or typical development (TD, n = 84). Mothers’ reported collateral effects on their psychological adjustment were related to both youth disability status and clinical level behavior disorders. More youth with ASD or ID had clinical level behavior disorders than their TD peers, and their mothers reported significantly higher personal stress and psychological symptoms, as well as lower positive impact of the youth on the family. The youth’s clinical level behavior disorders accounted for these differences more than the diagnostic status. Mothers high in dispositional optimism reported the lowest stress and psychological symptoms in relationship to youth behavior challenges.
Lien vers le texte intégral (Open Access ou abonnement)
4. Cage E, Di Monaco J, Newell V. {{Experiences of Autism Acceptance and Mental Health in Autistic Adults}}. {J Autism Dev Disord}. 2017.
Mental health difficulties are highly prevalent in individuals on the autism spectrum. The current study examined how experiences and perceptions of autism acceptance could impact on the mental health of autistic adults. 111 adults on the autism spectrum completed an online survey examining their experiences of autism acceptance, along with symptoms of depression, anxiety and stress. Regression analyses showed that autism acceptance from external sources and personal acceptance significantly predicted depression. Acceptance from others also significantly predicted stress but acceptance did not predict anxiety. Further analyses suggested that experiences of « camouflaging » could relate to higher rates of depression. The current study highlights the importance of considering how autism acceptance could contribute to mental health in autism.
Lien vers le texte intégral (Open Access ou abonnement)
5. Cheol-Hong M. {{Automatic detection and labeling of self-stimulatory behavioral patterns in children with Autism Spectrum Disorder}}. {Conf Proc IEEE Eng Med Biol Soc}. 2017; 2017: 279-82.
An infrastructure to record, detect and label the behavioral patterns of children with Autism Spectrum Disorder (ASD) has been developed. The system incorporates 2 different sensor platforms which are wearable and static. The wearable system is based on accelerometer which detects behavioral patterns of a subject, while the static sensors are microphones and cameras which captures the sounds, images and videos of the subjects within a room. The video also provides ground truth for wearable sensor data analysis. The system labels the segment of video data upon detection of the autistic behavior. That is, it stores the time of the video when the activities are detected. Time-Frequency methods are used to extract features and Hidden Markov Model (HMM) are used for analyzing the accelerometer signal. Using these methods, we are able to achieve 91.5% of classification rate for behavioral patterns studied in this paper which is used to label and save data.
Lien vers le texte intégral (Open Access ou abonnement)
6. Crawford MJ, Gold C, Odell-Miller H, Thana L, Faber S, Assmus J, Bieleninik L, Geretsegger M, Grant C, Maratos A, Sandford S, Claringbold A, McConachie H, Maskey M, Mossler KA, Ramchandani P, Hassiotis A. {{International multicentre randomised controlled trial of improvisational music therapy for children with autism spectrum disorder: TIME-A study}}. {Health Technol Assess}. 2017; 21(59): 1-40.
BACKGROUND: Preliminary studies have indicated that music therapy may benefit children with autism spectrum disorders (ASD). OBJECTIVES: To examine the effects of improvisational music therapy (IMT) on social affect and responsiveness of children with ASD. DESIGN: International, multicentre, three-arm, single-masked randomised controlled trial, including a National Institute for Health Research (NIHR)-funded centre that recruited in London and the east of England. Randomisation was via a remote service using permuted blocks, stratified by study site. SETTING: Schools and private, voluntary and state-funded health-care services. PARTICIPANTS: Children aged between 4 and 7 years with a confirmed diagnosis of ASD and a parent or guardian who provided written informed consent. We excluded children with serious sensory disorder and those who had received music therapy within the past 12 months. INTERVENTIONS: All parents and children received enhanced standard care (ESC), which involved three 60-minute sessions of advice and support in addition to treatment as usual. In addition, they were randomised to either one (low-frequency) or three (high-frequency) sessions of IMT per week, or to ESC alone, over 5 months in a ratio of 1 : 1 : 2. MAIN OUTCOME MEASURES: The primary outcome was measured using the social affect score derived from the Autism Diagnostic Observation Schedule (ADOS) at 5 months: higher scores indicated greater impairment. Secondary outcomes included social affect at 12 months and parent-rated social responsiveness at 5 and 12 months (higher scores indicated greater impairment). RESULTS: A total of 364 participants were randomised between 2011 and 2015. A total of 182 children were allocated to IMT (90 to high-frequency sessions and 92 to low-frequency sessions), and 182 were allocated to ESC alone. A total of 314 (86.3%) of the total sample were followed up at 5 months [165 (90.7%) in the intervention group and 149 (81.9%) in the control group]. Among those randomised to IMT, 171 (94.0%) received it. From baseline to 5 months, mean scores of ADOS social affect decreased from 14.1 to 13.3 in music therapy and from 13.5 to 12.4 in standard care [mean difference: music therapy vs. standard care = 0.06, 95% confidence interval (CI) -0.70 to 0.81], with no significant difference in improvement. There were also no differences in the parent-rated social responsiveness score, which decreased from 96.0 to 89.2 in the music therapy group and from 96.1 to 93.3 in the standard care group over this period (mean difference: music therapy vs. standard care = -3.32, 95% CI -7.56 to 0.91). There were seven admissions to hospital that were unrelated to the study interventions in the two IMT arms compared with 10 unrelated admissions in the ESC group. CONCLUSIONS: Adding IMT to the treatment received by children with ASD did not improve social affect or parent-assessed social responsiveness. FUTURE WORK: Other methods for delivering music-focused interventions for children with ASD should be explored. TRIAL REGISTRATION: Current Controlled Trials ISRCTN78923965. FUNDING: This project was funded by the NIHR Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 21, No. 59. See the NIHR Journals Library website for further project information.
Lien vers le texte intégral (Open Access ou abonnement)
7. Dahm MR, Georgiou A, Balandin S, Hill S, Hemsley B. {{Health Information Infrastructure for People with Intellectual and Developmental Disabilities (I/DD) Living in Supported Accommodation: Communication, Co-Ordination and Integration of Health Information}}. {Health Commun}. 2017: 1-9.
People with intellectual and/or developmental disability (I/DD) commonly have complex health care needs, but little is known about how their health information is managed in supported accommodation, and across health services providers. This study aimed to describe the current health information infrastructure (i.e., how data and information are collected, stored, communicated, and used) for people with I/DD living in supported accommodation in Australia. It involved a scoping review and synthesis of research, policies, and health documents relevant in this setting. Iterative database and hand searches were conducted across peer-reviewed articles internationally in English and grey literature in Australia (New South Wales) up to September 2015. Data were extracted from the selected relevant literature and analyzed for content themes. Expert stakeholders were consulted to verify the authors’ interpretations of the information and content categories. The included 286 sources (peer-reviewed n = 27; grey literature n = 259) reflect that the health information for people with I/DD in supported accommodation is poorly communicated, coordinated and integrated across isolated systems. ‘Work-as-imagined’ as outlined in policies, does not align with ‘work-as-done’ in reality. This gap threatens the quality of care and safety of people with I/DD in these settings. The effectiveness of the health information infrastructure and services for people with I/DD can be improved by integrating the information sources and placing people with I/DD and their supporters at the centre of the information exchange process.
Lien vers le texte intégral (Open Access ou abonnement)
8. Hall SA, Rossetti Z. {{The roles of adult siblings in the lives of people with severe intellectual and developmental disabilities}}. {J Appl Res Intellect Disabil}. 2017.
BACKGROUND: Siblings of people with intellectual and developmental disabilities (IDD) often assume key roles to support their brothers and sisters. For people with more significant support needs, siblings may undertake additional roles and responsibilities throughout their lives. The purpose of the present study was to identify and describe the roles of adult siblings who have a brother or sister with severe IDD. METHOD: Seventy-nine adult siblings from 19 to 72 years of age completed an online survey with open-ended questions about the roles they play in their relationships with their brother or sister. RESULTS: Thematic analysis resulted in identification of several roles including caregiver, friend (social partner), advocate, legal representative, sibling (teacher/role model), leisure planner and informal service coordinator. CONCLUSION: Siblings assume key roles in the lives of people with IDD and need support from family and professionals to perform these roles.
Lien vers le texte intégral (Open Access ou abonnement)
9. Hess S, Self T, DiLollo A. {{Assessing Personal Constructs of Adolescents with Autism Spectrum Disorder: A Person-Centered Measure of Social Cognition}}. {J Autism Dev Disord}. 2017.
Many protocols assessing social communication skills of adolescents with autism spectrum disorder (ASD) are based on behavioral observations. It has been suggested, however, that social cognition encompasses processes underlying observable behaviors. Such processes include personal constructs, which can be assessed using repertory grids. Personal constructs of five adolescents with ASD with average or above average intelligence and receptive and expressive language skills were explored using repertory grids in this study. With visual structure and verbal scaffolding, all participants successfully engaged in the repertory grid process. Data suggest participants had well organized, complex construct systems, a significant understanding of social roles, and were interested in social interactions. Repertory grids may provide additional person-centered information for assessing social communication skills in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
10. Koemans TS, Kleefstra T, Chubak MC, Stone MH, Reijnders MRF, de Munnik S, Willemsen MH, Fenckova M, Stumpel C, Bok LA, Sifuentes Saenz M, Byerly KA, Baughn LB, Stegmann APA, Pfundt R, Zhou H, van Bokhoven H, Schenck A, Kramer JM. {{Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder}}. {PLoS Genet}. 2017; 13(10): e1006864.
Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase 1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD), characteristic facial dysmorphisms, and other variable clinical features. In addition to EHMT1 mutations, de novo variants were reported in four additional genes (MBD5, SMARCB1, NR1I3, and KMT2C), in single individuals with clinical characteristics overlapping Kleefstra syndrome. Here, we present a novel cohort of five patients with de novo loss of function mutations affecting the histone methyltransferase KMT2C. Our clinical data delineates the KMT2C phenotypic spectrum and reinforces the phenotypic overlap with Kleefstra syndrome and other related ID disorders. To elucidate the common molecular basis of the neuropathology associated with mutations in KMT2C and EHMT1, we characterized the role of the Drosophila KMT2C ortholog, trithorax related (trr), in the nervous system. Similar to the Drosophila EHMT1 ortholog, G9a, trr is required in the mushroom body for short term memory. Trr ChIP-seq identified 3371 binding sites, mainly in the promoter of genes involved in neuronal processes. Transcriptional profiling of pan-neuronal trr knockdown and G9a null mutant fly heads identified 613 and 1123 misregulated genes, respectively. These gene sets show a significant overlap and are associated with nearly identical gene ontology enrichments. The majority of the observed biological convergence is derived from predicted indirect target genes. However, trr and G9a also have common direct targets, including the Drosophila ortholog of Arc (Arc1), a key regulator of synaptic plasticity. Our data highlight the clinical and molecular convergence between the KMT2 and EHMT protein families, which may contribute to a molecular network underlying a larger group of ID/ASD-related disorders.
Lien vers le texte intégral (Open Access ou abonnement)
11. Liu J, Gong J, Nie G, He Y, Xiao B, Shen Y, Luo X. {{The mediating effects of childhood neglect on the association between schizotypal and autistic personality traits and depression in a non-clinical sample}}. {BMC Psychiatry}. 2017; 17(1): 352.
BACKGROUND: Autistic personality traits (APT) and schizotypal personality traits (SPT) are associated with depression. However, mediating factors within these relationships have not yet been explored. Thus, the focus of the current study was to examine the effects of childhood neglect on the relationship between APT/SPT and depression. METHODS: This cross-sectional study was conducted on first-year students (N = 2469) at Hunan University of Chinese Medicine and Hengyang Normal College (Changsha, China). Participants completed surveys on APT, SPT, childhood neglect, abuse and depression. RESULTS: Through correlational analyses, APT and SPT traits were positively correlated with childhood neglect and depression (p < 0.05). In a hierarchical regression analysis, among types of childhood maltreatment, emotional neglect (beta = 0.112, p < 0.001) and physical neglect (beta = 0.105, p < 0.001) were the strongest predictors of depression. Childhood neglect did not account for the relationships between APT/SPT and depression. Further analysis found that childhood neglect mediated the relationship between SPT and depression but not APT and depression. CONCLUSIONS: Among types of childhood maltreatment, neglect was the strongest predicting factor for depression. Neglect did not account for the relationship between APT/SPT and depression but was a strong mediating factor between SPT and depression. Lien vers le texte intégral (Open Access ou abonnement)
12. Mous SE, Overwater IE, Vidal Gato R, Duvekot J, Ten Hoopen LW, Lequin MH, de Wit MY, Dieleman GC. {{Cortical dysplasia and autistic trait severity in children with Tuberous Sclerosis Complex: a clinical epidemiological study}}. {Eur Child Adolesc Psychiatry}. 2017.
Tuberous Sclerosis Complex (TSC) is characterized by a high prevalence of autism spectrum disorders (ASD). Little is known about the relation between cortical dysplasia and ASD severity in TSC. We assessed ASD severity (using the Autism Diagnostic Observation Scale), tuber and radial migration line (RML) count and location, and cognitive functioning in 52 children with TSC and performed regression and mediation analyses. Tuber and RML count were strongly positively related to ASD severity. However, when correcting for cognitive functioning, the majority of associations became insignificant and only total tuber count remained associated to the severity of restricted/repetitive behaviors. Occipital RML count remained associated with overall ASD severity, and social communication/interaction deficit severity specifically. This study shows the important explanatory role of cognitive functioning in the association between cortical dysplasia and ASD severity, and the relevance of separately studying the two ASD subdomains.
Lien vers le texte intégral (Open Access ou abonnement)
13. Nicholas DB, Mitchell W, Dudley C, Clarke M, Zulla R. {{An Ecosystem Approach to Employment and Autism Spectrum Disorder}}. {J Autism Dev Disord}. 2017.
Relatively little is yet known about employment readiness and elements that promote access to, and the retention of, employment for adults with autism spectrum disorder (ASD). This paper posits elements within the ecosystem of employment and ASD. The ecosystem approach locates employment among persons with ASD as inextricably linked with broader community resources, family support, workplace capacity building (e.g., employer, co-workers) and policy. Application of the approach is offered through process evaluation data yielded from an ecosystem-informed job readiness program entitled, ‘EmploymentWorks Canada’. Findings illustrate job readiness in the context of the broader ecosystem that envelopes salient components in the aim of community engagement and quality of life. Recommendations are offered for community-based applications and for program and research development.
Lien vers le texte intégral (Open Access ou abonnement)
14. Southby K, Robinson O. {{Information, Advocacy and Signposting as a Low-Level Support for Adults with High-Functioning Autism Spectrum Disorder: An Example from the UK}}. {J Autism Dev Disord}. 2017.
‘Low-level’ support is championed to support adults with high functioning autism spectrum disorder (HFASD) to achieve good quality health and social care, yet research in the area is sparse. Drawing on semi-structured interview data, this paper considers the efficacy of an intervention to provide low-level support to adults with HFASD with little or no funded support. The intervention led to a number of perceived positive outcomes for adults with HFASD, their families, and service providers in the city, including increased access to education, volunteering, support and information, socialising, improved health and wellbeing, and managing day-to-day. Although many of life’s difficulties still persisted, the intervention helped service users overcome barriers to availing further support, possibly leading to beneficial outcomes down the line.
Lien vers le texte intégral (Open Access ou abonnement)
15. Ward J, Brown P, Sherwood J, Simner J. {{An autistic-like profile of attention and perception in synaesthesia}}. {Cortex}. 2017.
Synaesthesia and autism are two neurodevelopmental conditions that have been shown to co-occur more than expected by chance. The studies reported here test the hypothesis that increased sensory sensitivity and enhanced Attention-to-detail are core cognitive features that are shared between them. In Study 1, we administer self-report measures of sensory sensitivity and autistic traits (the Autism Spectrum Quotient, AQ) to a large heterogeneous sample of synaesthetes. Both sensory sensitivity and the Attention-to-detail subscale of the AQ show a « dose-like » relationship with synaesthesia: namely, more kinds of synaesthesia is related to a greater shift up the autistic spectrum. Study 2 uses two objective measures of visual perception/attention linked to autistic traits: Change Blindness and detection of local embedded figures. Both measures are shown here to be sensitive to the Attention-to-detail subscale of the AQ, and synaesthetes outperformed controls on both tasks. Synaesthetes appear to occupy a specific cognitive niche of having autistic-like traits linked to enhanced perception and attention. Whilst these typically occur in the absence of the traditional impairments that define autism, they may carry the cost of increased vulnerability to clinical levels of autism (Odds Ratio = 2.07).
Lien vers le texte intégral (Open Access ou abonnement)
16. Wessel K, Suleiman J, Khalaf TE, Kishore S, Rolfs A, El-Hattab AW. {{17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report}}. {BMC Med Genet}. 2017; 18(1): 119.
BACKGROUND: Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23.1q23.2 appear to segregate with clubfoot. Dosage alterations in the TBX2 and TBX4 genes, located in 17q23.2, have been proposed to be responsible for the phenotypes observed in individuals with 17q23.1q23.2 deletions and duplications. In this report, we present the clinical phenotype of a child with a previously unreported de novo duplication at 17q23.2q23.3 located distal to the TBX2 and TBX4 region. CASE PRESENTATION: We report a 7.5-year-old boy with speech and language disorder, learning difficulties, incoordination, fine motor skill impairment, infrequent seizures with abnormal EEG, and behavior disturbances (mild self-inflicted injuries, hyperactivity-inattention, and stereotyped hand movements). Chromosomal microarray revealed a 2-Mb duplication of chromosome 17q23.2q23.3. Both parents did not have the duplication indicating that this duplication is de novo in the child. CONCLUSIONS: The duplicated region encompasses 16 genes. It is possible that increased dosage of one or more genes in this region is responsible for the observed phenotype. The TANC2 gene is one of the genes in the duplicated region.It encodes a member of the TANC (tetratricopeptide repeat, ankyrin repeat and coiled-coil containing) family which includes TANC1 and TANC2. These proteins are highly expressed in brain and play major roles in synapsis regulation. Hence, it is suggestive that TANC2 is the likely candidate gene responsible for the observed phenotype as an increased TANC2 dosage can potentially alter synapsis, resulting in neuronal dysfunction and the neurobehavioral phenotype observed in this child with 17q23.2q23.3 duplication.
Lien vers le texte intégral (Open Access ou abonnement)
17. Zhang F, Savadjiev P, Cai W, Song Y, Rathi Y, Tunc B, Parker D, Kapur T, Schultz RT, Makris N, Verma R, O’Donnell LJ. {{Whole brain white matter connectivity analysis using machine learning: An application to autism}}. {Neuroimage}. 2017.
In this paper, we propose an automated white matter connectivity analysis method for machine learning classification and characterization of white matter abnormality via identification of discriminative fiber tracts. The proposed method uses diffusion MRI tractography and a data-driven approach to find fiber clusters corresponding to subdivisions of the white matter anatomy. Features extracted from each fiber cluster describe its diffusion properties and are used for machine learning. The method is demonstrated by application to a pediatric neuroimaging dataset from 149 individuals, including 70 children with autism spectrum disorder (ASD) and 79 typically developing controls (TDC). A classification accuracy of 78.33% is achieved in this cross-validation study. We investigate the discriminative diffusion features based on a two-tensor fiber tracking model. We observe that the mean fractional anisotropy from the second tensor (associated with crossing fibers) is most affected in ASD. We also find that local along-tract (central cores and endpoint regions) differences between ASD and TDC are helpful in differentiating the two groups. These altered diffusion properties in ASD are associated with multiple robustly discriminative fiber clusters, which belong to several major white matter tracts including the corpus callosum, arcuate fasciculus, uncinate fasciculus and aslant tract; and the white matter structures related to the cerebellum, brain stem, and ventral diencephalon. These discriminative fiber clusters, a small part of the whole brain tractography, represent the white matter connections that could be most affected in ASD. Our results indicate the potential of a machine learning pipeline based on white matter fiber clustering.
