1. Bonis S. {{Stress and Parents of Children with Autism: A Review of Literature}}. {Issues Ment Health Nurs};2016 (Mar);37(3):153-163.
The purpose of this review is twofold. The first is to synthesize factors that impact parents’ experiences of caring for a child with autism spectrum disorder (ASD); the second is to identify factors that impact parental stress and parental decision-making to use autism services or not. Parents of children with ASD score higher on levels of stress than other groups of parents. The daily challenges of caring for the child are endless and effect all aspects of the child’s care as well as the parent’s mental health and ability to manage the needs of the child and family. Understanding more about the challenges parents face will provide direction for research, intervention development, and practice. Accordingly, a search was conducted using CINAHL and Medline. Inclusion criteria included articles available in full text, published in English, and focused on children with ASD distinct from other diagnoses, as well as parental experiences of caring for a child with ASD. Articles (N = 132) that met the inclusion criteria were summarized. Challenging aspects of the child’s diagnosis and care are discussed, as well as the factors that impact parental stress and decision-making to use autism services. Recommendations for research and practice include interventional development related to early diagnosis, disparity, access to care, parental decision-making to use autism services, and parental stress management.
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2. Brett D, Warnell F, McConachie H, Parr JR. {{Factors Affecting Age at ASD Diagnosis in UK: No Evidence that Diagnosis Age has Decreased Between 2004 and 2014}}. {J Autism Dev Disord};2016 (Mar 31)
Clinical initiatives have aimed to reduce the age at ASD diagnosis in the UK. This study investigated whether the median age at diagnosis in childhood has reduced in recent years, and identified the factors associated with earlier diagnosis in the UK. Data on 2134 children with ASD came from two large family databases. Results showed that the age of ASD diagnosis has not decreased. The median age of diagnosis of all ASDs was 55 months. Factors associated with earlier age of diagnosis were autism diagnosis (compared with other ASD), language regression, language delay, lower socioeconomic status, and greater degree of support required. Effective clinical strategies are needed to identify children with characteristics that have in the past delayed ASD diagnosis.
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3. Campistol J, Diez-Juan M, Callejon L, Fernandez-De Miguel A, Casado M, Garcia Cazorla A, Lozano R, Artuch R. {{Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders}}. {Dev Med Child Neurol};2016 (Mar 31)
AIM: To perform metabolic testing on 406 patients (age range 3-22y [mean 6.71, SD 4.15], 343 males and 63 females) with nonsyndromic autism spectrum disorders (ASD) to assess the diagnostic yield. In addition, we reviewed our hospital’s clinical database of 8500 patients who had undergone metabolic testing to be identified for inborn errors of metabolism (IEM), and described the characteristics of those with IEM and nonsyndromic ASD. METHOD: Neuropsychological evaluation included the Social Communication Questionnaire and Child Behavior Checklist. For metabolic testing/screening, urine samples were analyzed for the diagnosis of cerebral creatine deficiency syndromes, purine and pyrimidine disorders, amino acid metabolism defects, mucopolysaccharidoses, and organic acidurias. RESULTS: The 406 recruited participants fulfilled the Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) criteria of ASD. No biochemical evidence of a metabolic disorder was detected in any of the 406 patients studied. Concerning the retrospective evaluation from the 8500 who had metabolic testing, 464 individuals had a diagnosis of an IEM (394 without the diagnosis of ASD and 70 with ASD diagnosis). Only one individual with IEM had a diagnosis of nonsyndromic ASD at the time of the metabolic study; the metabolic testing had revealed diagnosis of urea-cycle disorder. INTERPRETATION: Metabolic testing should be considered in the work-up of individuals with syndromic ASD, but metabolic testing is not cost-effective for individuals with nonsyndromic ASD.
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4. Chen HI, Chien YL, Liao HM, Chien WH, Chen CH, Chen YC, Gau SS. {{Dosage of copy number variation at 22q11.2 mediates changes in cognition, social function and brain structure in autism spectrum disorder}}. {J Formos Med Assoc};2016 (Mar 26)
Microdeletion at 22q11.2, a common copy number variation (CNV) noted in neurodevelopmental disorders, may be associated with cognitive impairment. However, cognitive function in individuals with microduplication remains unclear. This work presents the genetic, clinical, and brain structural data of two men out of 335 probands with autistic spectrum disorder (ASD) who had different CNV dosages at 22q11.2, and comparison with their siblings, 55 ASD probands, and 73 controls. Both showed severe autistic symptoms, but the proband with microduplication demonstrated better cognitive functions. Furthermore, different cingulate gyrus volume changes were noted, indicating that the proband with 22q11.2 microduplication had a different pattern of cingulate gyrus structure. Our comprehensive characterization of the behavioral, cognitive, and imaging phenotypes of ASD probands with different CNV dosage at 22q11.2 contribute to how copy number changes at 22q11.2 mediate the phenotypes in ASD, and pave the way for future clinical and functional study on these variants.
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5. Durbin J, Selick A, Casson I, Green L, Spassiani N, Perry A, Lunsky Y. {{Evaluating the Implementation of Health Checks for Adults With Intellectual and Developmental Disabilities in Primary Care: The Importance of Organizational Context}}. {Intellect Dev Disabil};2016 (Apr);54(2):136-150.
Compared to other adults, those with intellectual and developmental disabilities have more health issues, yet are less likely to receive preventative care. One strategy that has shown success in increasing prevention activities and early detection of illness is the periodic comprehensive health assessment (the health check). Effectively moving evidence into practice is a complex process that often receives inadequate attention. This qualitative study evaluates the implementation of the health check at two primary-care clinics in Ontario, Canada, and the influence of the clinic context on implementation decisions. Each clinic implemented the same core components; however, due to contextual differences, some components were operationalized differently. Adapting to the setting context is important to ensuring successful and sustainable implementation.
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6. Gibbons HM, Owen R, Heller T. {{Perceptions of Health and Healthcare of People With Intellectual and Developmental Disabilities in Medicaid Managed Care}}. {Intellect Dev Disabil};2016 (Apr);54(2):94-105.
This study examined perceptions of health and healthcare of people with intellectual and developmental disabilities (IDD) receiving Medicaid Managed Care. Exploratory, semistructured interviews were conducted with 23 participants. Findings indicate that participants generally expressed being in good health and defined good health as (a) absence of pain, disease, and symptoms; (b) adherence to or not requiring treatment; (c) physical self-care; (d) mental or spiritual self-care; and (e) ability to perform the activities one wants to do. Participants conceptualized healthcare as (a) ensuring needs are met through access to services, (b) obtaining quality services, (c) navigating the healthcare system successfully, and (d) receiving humanizing healthcare. This study has implications for improving healthcare and communications between people with IDD and healthcare providers.
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7. Golzio C, Katsanis N. {{Mitochondrial Copy Number as a Biomarker for Autism?}}. {Pediatrics};2016 (Mar 31)
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8. Hodgetts S, Park E. {{Preparing for the future: a review of tools and strategies to support autonomous goal setting for children and youth with autism spectrum disorders}}. {Disabil Rehabil};2016 (Mar 30):1-9.
PURPOSE: Despite recognized benefits, current clinical practice rarely includes direct input from children and youth with autism spectrum disorder (ASD) in setting rehabilitation goals. This study reviews tools and evidence-based strategies to assist with autonomous goal settings for children and youth with ASD. METHOD: This study included two components: (1) A scoping review of existing tools and strategies to assist with autonomous goal setting in individuals with ASD and (2) a chart review of inter-disciplinary service plan goals for children and youth with ASD. RESULTS: Eleven data sources, evaluating five different tools to assist with autonomous goal setting for children and youth with ASD, were found. Three themes emerged from the integration of the scoping review and chart review, which are discussed in the paper: (1) generalizability of findings, (2) adaptations to support participation and (3) practice implications. CONCLUSIONS: Children and youth with ASD can participate in setting rehabilitation goals, but few tools to support their participation have been evaluated, and those tools that do exist do not align well with current services foci. Visual aids appear to be one effective support, but further research on effective strategies for meaningful engagement in autonomous goal setting for children and youth with ASD is warranted. Implications for rehabilitation Persons with ASD are less self-determined than their peers. Input into one’s own rehabilitation goals and priorities is an important component of self-determination. Few tools exist to help engage children and youth with ASD in setting their own rehabilitation goals. An increased focus on identifying, developing and evaluating effective tools and strategies to facilitate engagement of children and youth with ASD in setting their own rehabilitation goals is warranted.
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9. Hryniewiecka-Jaworska A, Foden E, Kerr M, Felce D, Clarke A. {{Prevalence and associated features of depression in women with Rett syndrome}}. {J Intellect Disabil Res};2016 (Mar 29)
BACKGROUND: Little is known about depression among women with Rett syndrome (RTT) despite recent advances in knowledge about RTT. In this study, we aimed to establish the prevalence of depression among women with RTT as identified by a screening telephone interview and to explore the clinical factors associated with this. METHODS: The study employed the cross-sectional analysis of data from telephone interviews with carers of 56 women with RTT, using validated questionnaires for assessing mental health problems, challenging behaviour and RTT severity. RESULTS: Scores on the mental health assessment reached the affective/neurotic threshold in eight cases (14.3%). No significant differences were found between those reaching the threshold and those who did not in terms of severity of RTT phenotype, health problems or social circumstances. There was a significant association between screening identified depression and higher lethargy and social withdrawal. CONCLUSIONS: Screening identified depression was found among a sizeable minority of women with RTT. Further investigation is needed to establish a clinically validated prevalence of depression among this group and to identify behavioural features that would lead to prompt psychiatric assessment.
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10. McGinley JM. {{From Nonissue to Healthcare Crisis: A Historical Review of Aging and Dying With an Intellectual and Developmental Disability}}. {Intellect Dev Disabil};2016 (Apr);54(2):151-156.
Individuals with intellectual and developmental disabilities are living unprecedentedly longer lives primarily due to the long-term benefits of the deinstitutionalization movement and widespread improvements in health outcomes. However, the consequences of this protracted aging process are significant, complex, and often poor not only for the individuals and their caregivers but for the mainstream healthcare community. This article will explore, utilizing a constructionist perspective, how these challenges evolved from a nonissue to an impending crisis in less than 25 years. Additionally, present-day efforts by researchers, policymakers, and practitioners to address these challenges will be explored and recommendations will be made for future directions.
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11. McKenzie K, Ouellette-Kuntz H, Martin L. {{Frailty as a Predictor of Institutionalization Among Adults With Intellectual and Developmental Disabilities}}. {Intellect Dev Disabil};2016 (Apr);54(2):123-135.
Adults with intellectual and developmental disabilities (IDD) frequently become frail earlier than the general population, resulting in higher care needs. This population is at risk for institutionalization, or re-institutionalization, into long-term care (LTC). Using a retrospective cohort design to follow 3,034 individuals (18-99 years) living in Ontario, Canada, and assessed with the Resident Assessment Instrument-Home Care, individuals were characterized with a frailty index (FI) for persons with IDD. Survival analyses determined differences in rates of admission to LTC and survival in the community. Frail individuals had greater rates of admission than non-frail individuals, adjusted HR = 2.19, 95% CI [1.81, 2.64]. The FI predicts institutionalization.
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12. Mortazavi G, Haghani M, Rastegarian N, Zarei S, Mortazavi SM. {{Increased Release of Mercury from Dental Amalgam Fillings due to Maternal Exposure to Electromagnetic Fields as a Possible Mechanism for the High Rates of Autism in the Offspring: Introducing a Hypothesis}}. {J Biomed Phys Eng};2016 (Mar);6(1):41-46.
According to the World Health Organization (WHO), factors such as growing electricity demand, ever-advancing technologies and changes in social behaviour have led to steadily increasing exposure to man-made electromagnetic fields. Dental amalgam fillings are among the major sources of exposure to elemental mercury vapour in the general population. Although it was previously believed that low levels are mercury (i.g. release of mercury from dental amalgam) is not hazardous, now numerous data indicate that even very low doses of mercury cause toxicity. There are some evidence indicating that perinatal exposure to mercury is significantly associated with an increased risk of developmental disorders such as autism spectrum disorders (ASD) and attention-deficit hyperactivity disorder (ADHD). Furthermore, mercury can decrease the levels of neurotransmitters dopamine, serotonin, noreprenephrine, and acetylcholine in the brain and cause neurological problems. On the other hand, a strong positive correlation between maternal and cord blood mercury levels is found in some studies. We have previously shown that exposure to MRI or microwave radiation emitted by common mobile phones can lead to increased release of mercury from dental amalgam fillings. Moreover, when we investigated the effects of MRI machines with stronger magnetic fields, our previous findings were confirmed. As a strong association between exposure to electromagnetic fields and mercury level has been found in our previous studies, our findings can lead us to this conclusion that maternal exposure to electromagnetic fields in mothers with dental amalgam fillings may cause elevated levels of mercury and trigger the increase in autism rates. Further studies are needed to have a better understanding of the possible role of the increased mercury level after exposure to electromagnetic fields and the rate of autism spectrum disorders in the offspring.
13. Pearson BL, Simon JM, McCoy ES, Salazar G, Fragola G, Zylka MJ. {{Identification of chemicals that mimic transcriptional changes associated with autism, brain aging and neurodegeneration}}. {Nat Commun};2016;7:11173.
Environmental factors, including pesticides, have been linked to autism and neurodegeneration risk using retrospective epidemiological studies. Here we sought to prospectively identify chemicals that share transcriptomic signatures with neurological disorders, by exposing mouse cortical neuron-enriched cultures to hundreds of chemicals commonly found in the environment and on food. We find that rotenone, a pesticide associated with Parkinson’s disease risk, and certain fungicides, including pyraclostrobin, trifloxystrobin, famoxadone and fenamidone, produce transcriptional changes in vitro that are similar to those seen in brain samples from humans with autism, advanced age and neurodegeneration (Alzheimer’s disease and Huntington’s disease). These chemicals stimulate free radical production and disrupt microtubules in neurons, effects that can be reduced by pretreating with a microtubule stabilizer, an antioxidant, or with sulforaphane. Our study provides an approach to prospectively identify environmental chemicals that transcriptionally mimic autism and other brain disorders.
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14. Rafie F, Ghasemi A, Zamani Jam A, Jalali S. {{Effect of exercise intervention on the perceptual- motor skills in adolescents with autism}}. {J Sports Med Phys Fitness};2016 (Mar 30)
BACKGROUND: Motor skill impairment has been reported in many studies of autistic adolescents. The aim of this study was to examine the effect of selected physical exercise on Perceptual- motor skills in adolescents with autism. METHODS: Twenty adolescents with autism that were under special education in Tehran based on their Childhood Autism Rating Scale scores (CARS) and level of abilities were selected. Measurement tool was Bruininks Oseretsky Test of Motor Proficiency (BOTMP). Selected group motor program in this study includes motor activities, games and sports for adolescents that were performed for 10 weeks. RESULTS: Results showed that selected physical exercise training has significant effects on all of the variables (p<0.001) except the speed of running and agility (p=0.61), bilateral coordination (p=0.12) and response speed (p=0.42). CONCLUSIONS: It seems that miscellaneous physical exercise programs which include ball games, delightful play and targeted play can improve perceptual- motor skills in adolescents with autism.
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15. Spassiani NA, Sawyer AR, Chacra MS, Koch K, Munoz YA, Lunsky Y. {{« Teaches People That I’m More Than a Disability »: Using Nominal Group Technique in Patient-Oriented Research for People With Intellectual and Developmental Disabilities}}. {Intellect Dev Disabil};2016 (Apr);54(2):112-122.
Individuals with intellectual and developmental disabilities (IDD) have complex healthcare needs, which are often unmet. Nominal group technique (NGT) uses a mixed-methods approach, which may engage the IDD population in the research process in a person-centered manner and address the shortcomings of traditional research methods with this population. NGT was used with a group of 10 self-advocates to evaluate a series of healthcare tools created by and for individuals with IDD. Participants provided helpful input about the strengths of these tools and suggestions to improve them. NGT was found to be an effective way to engage all participants in the research process.
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16. Visser JC, Rommelse NN, Greven CU, Buitelaar JK. {{Autism spectrum disorder and attention-deficit/hyperactivity disorder in early childhood: A review of unique and shared characteristics and developmental antecedents}}. {Neurosci Biobehav Rev};2016 (Mar 26)
Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) have overlapping characteristics and etiological factors, but to which extent this applies to infant- and preschool age is less well understood. Comparing the pathways to ASD and ADHD from the earliest possible stages is crucial for understanding how phenotypic overlap emerges and develops. Ultimately, these insights may guide preventative and therapeutic interventions. Here, we review the literature on the core symptoms, temperament and executive function in ASD and ADHD from infancy through preschool age, and draw several conclusions: (1) the co-occurrence of ASD and ADHD increases with age, severity of symptoms and lower IQ, (2) attention problems form a linking pin between early ASD and ADHD, but the behavioral, cognitive and sensory correlates of these attention problems partly diverge between the two conditions, (3) ASD and ADHD share high levels of negative affect, although the underlying motivational and behavioral tendencies seem to differ, and (4) ASD and ADHD share difficulties with control and shifting, but partly opposite behaviors seem to be involved.
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17. Wong S, Napoli E, Krakowiak P, Tassone F, Hertz-Picciotto I, Giulivi C. {{Role of p53, Mitochondrial DNA Deletions, and Paternal Age in Autism: A Case-Control Study}}. {Pediatrics};2016 (Mar 31)
BACKGROUND: The tumor suppressor p53 responds to a variety of environmental stressors by regulating cell cycle arrest, apoptosis, senescence, DNA repair, bioenergetics and mitochondrial DNA (mtDNA) copy number maintenance. Developmental abnormalities have been reported in p53-deficient mice, and altered p53 and p53-associated pathways in autism (AU). Furthermore, via the Pten-p53 crosstalk, Pten haploinsufficient-mice have autisticlike behavior accompanied by brain mitochondrial dysfunction with accumulation of mtDNA deletions. METHODS: mtDNA copy number and deletions, and p53 gene copy ratios were evaluated in peripheral blood monocytic cells from children aged 2-5 years with AU (n = 66), race-, gender-, and age-matched typically neurodeveloping children (n = 46), and both parents from each diagnostic group, recruited by the Childhood Autism Risk from Genes and Environment study at the University of California, Davis. RESULTS: mtDNA deletions and higher p53 gene copy ratios were more common in children with AU and their fathers. The incidence of mtDNA deletions in fathers of children with AU was increased 1.9-fold over fathers of typically neurodeveloping children, suggesting a role for deficient DNA repair capacity not driven by paternal age. Deletions in mtDNA and altered p53 gene copy ratios seem to result from genetics (children with severity scores >/=8) and/or act in concert with environmental factors (children with 6-7 severity scores). CONCLUSIONS: Given pro- and antioxidant activities of p53, and associations of genomic instability with disorders other than AU, our study suggests a link between DNA repair capacity, genomic instability in the 17p13.1 region influenced by environmental triggers, and AU diagnosis.
