1. {{Wong et al. Role of p53, Mitochondrial DNA Deletions, and Paternal Age in Autism: A Case-Control Study. Pediatrics. 2016:137(4):e20151888}}. {Pediatrics};2016 (Jul 29)
Lien vers le texte intégral (Open Access ou abonnement)
2. Bal VH, Katz T, Bishop SL, Krasileva K. {{Understanding definitions of minimally verbal across instruments: evidence for subgroups within minimally verbal children and adolescents with autism spectrum disorder}}. {J Child Psychol Psychiatry};2016 (Jul 30)
BACKGROUND: Minimally verbal (MV) children with autism spectrum disorder (ASD) are often assumed to be profoundly cognitively impaired and excluded from analyses due to challenges completing standardized testing protocols. A literature aimed at increasing understanding of this subgroup is emerging; however, the many methods used to define MV status make it difficult to compare studies. Understanding how different instruments and definitions used to identify MV children affect sample composition is critical to advance research on this understudied clinical population. METHOD: The MV status of 1,470 school-aged children was defined using five instruments commonly used in ASD research. MV sample composition was compared across instruments. Analyses examined the proportion of overlap across MV subgroups and the extent to which child characteristics varied across MV subgroups defined using different definitions or combinations of measures. RESULTS: A total of 257 children were classified as MV on at least one instrument. Proportion of overlap between definitions ranged from 3% to 100%. The stringency of definition (i.e. few-to-no vs. some words) was associated with differences in cognitive and adaptive functioning; more stringent definitions yielded greater consistency of MV status across instruments. Cognitive abilities ranged from profoundly impaired to average intelligence; 16% had NVIQ >/= 70. Approximately half exhibited verbal skills commensurate with nonverbal cognitive ability, whereas half had verbal abilities significantly lower than their estimated NVIQ. CONCLUSIONS: Future studies of MV children must carefully consider the methods used to identify their sample, acknowledging that definitions including children with ‘some words’ may yield larger samples with a wider range of language and cognitive abilities. Broadly defined MV samples may be particularly important to delineate factors interfering with language development in the subgroup of children whose expressive impairments are considerably below their estimated nonverbal cognitive abilities.
Lien vers le texte intégral (Open Access ou abonnement)
3. Barbaro J, Dissanayake C. {{Diagnostic stability of autism spectrum disorder in toddlers prospectively identified in a community-based setting: Behavioural characteristics and predictors of change over time}}. {Autism};2016 (Jul 28)
Autism spectrum disorder diagnoses in toddlers have been established as accurate and stable across time in high-risk siblings and clinic-referred samples. Few studies have investigated diagnostic stability in children prospective identified in community-based settings. Furthermore, there is a dearth of evidence on the individual behaviours that predict diagnostic change over time. The stability and change of autism spectrum disorder diagnoses were investigated from 24 to 48 months in 77 children drawn from the Social Attention and Communication Study. Diagnostic stability was high, with 88.3% overall stability and 85.5% autism spectrum disorder stability. The behavioural markers at 24 months that contributed to diagnostic shift off the autism spectrum by 48 months included better eye contact, more directed vocalisations, the integration of gaze and directed vocalisations/gestures and higher non-verbal developmental quotient. These four variables correctly predicted 88.7% of children into the autism spectrum disorder-stable and autism spectrum disorder-crossover groups overall, with excellent prediction for the stable group (96.2%) and modest prediction for the crossover group (44.4%). Furthermore, non-verbal developmental quotient at 24 months accounted for the significant improvement across time in ‘Social Affect’ scores on the Autism Diagnostic Observation Schedule for both groups and was the only unique predictor of diagnostic crossover. These findings contribute to the body of evidence on the feasibility of diagnoses at earlier ages to facilitate children’s access to interventions to promote positive developmental outcomes.
Lien vers le texte intégral (Open Access ou abonnement)
4. Bertorelli TE. {{Hope and doubt in the promise of neuroimaging: The case of autism spectrum disorder}}. {Health (London)};2016 (Jul 29)
Although neuroimaging is currently not a component of the diagnostic process for autism spectrum disorders, some scientists hail these technologies for their promise to one day replace behaviorally based psychiatric diagnostic techniques. This article examines how psychiatrists understand the potential use of neuroimaging technologies within the context of clinical practice. Drawing on 10 semi-structured interviews with child and adolescent psychiatrists, I describe the hope and doubt that comprise their discourse of ambivalence. This analysis demonstrates that the uses and meanings of neuroimaging technologies are rearticulated in ongoing debates in the field of psychiatry regarding the role of the biopsychiatric model in the diagnosis and treatment of mental illness. This study highlights issues surrounding the perceived biopsychiatric focus of neuroimaging technologies within clinical practice, concerns regarding misdirected research attention, and the ways in which understandings of future utility mediate perceptions of technological utility.
Lien vers le texte intégral (Open Access ou abonnement)
5. Kern JK, Geier DA, Sykes LK, Haley BE, Geier MR. {{The relationship between mercury and autism: A comprehensive review and discussion}}. {J Trace Elem Med Biol};2016 (Sep);37:8-24.
The brain pathology in autism spectrum disorders (ASD) indicates marked and ongoing inflammatory reactivity with concomitant neuronal damage. These findings are suggestive of neuronal insult as a result of external factors, rather than some type of developmental mishap. Various xenobiotics have been suggested as possible causes of this pathology. In a recent review, the top ten environmental compounds suspected of causing autism and learning disabilities were listed and they included: lead, methyl-mercury, polychorinated biphenyls, organophosphate pesticides, organochlorine pesticides, endocrine disruptors, automotive exhaust, polycyclic aromatic hydrocarbons, polybrominated diphenyl ethers, and perfluorinated compounds. This current review, however, will focus specifically on mercury exposure and ASD by conducting a comprehensive literature search of original studies in humans that examine the potential relationship between mercury and ASD, categorizing, summarizing, and discussing the published research that addresses this topic. This review found 91 studies that examine the potential relationship between mercury and ASD from 1999 to February 2016. Of these studies, the vast majority (74%) suggest that mercury is a risk factor for ASD, revealing both direct and indirect effects. The preponderance of the evidence indicates that mercury exposure is causal and/or contributory in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
6. Knight VM, Horn PS, Gilbert DL, Standridge SM. {{The Clinical Predictors That Facilitate a Clinician’s Decision to Order Genetic Testing for Rett Syndrome}}. {Pediatr Neurol};2016 (Jun 30)
BACKGROUND: Rett syndrome is a common genetic cause of intellectual disability in girls caused by a mutation in the MECP2 gene. Diagnosis is based on clinical criteria. The aim was to compare the frequencies of the clinical criteria in patients with and without MECP2 mutations. METHODS: We performed a retrospective review at a children’s hospital of patients who underwent MECP2 testing from 2008 to 2013. Logistic regression was performed to determine which criteria were most predictive of MECP2 status. RESULTS: Of 169 patients who met inclusion criteria, 46 (27.2%) were MECP2 positive. Loss of language skills (MECP2+ 100% versus MECP2- 87.8%; P = 0.012) was the most common finding among both groups. Other main criteria were more common in MECP2 patients: gait abnormalities (84.8% versus 27.6%; P < 0.0001); stereotypic hand movements (76.1% versus 15.5%; P < 0.0001); loss of hand skills (71.7% versus 4.9%; P < 0.0001). Logistic regression analysis including all four criteria demonstrated language loss was not predictive. CONCLUSIONS: Loss of hand skills resulted in the highest odds of having a positive genetic test. Gait abnormalities and stereotypic hand movements were also strong predictors of MECP2+ testing. Many individuals with language delay had genetic testing; however, this is the least specific of the major criteria. These findings have implications for which patients should have genetic testing. Lien vers le texte intégral (Open Access ou abonnement)
7. Kobayashi T, Matsuyama T, Takeuchi M, Ito S. {{Autism spectrum disorder and prenatal exposure to selective serotonin reuptake inhibitors: A systematic review and meta-analysis}}. {Reprod Toxicol};2016 (Jul 26)
To obtain the risk estimates of autism spectrum disorder (ASD) in the offspring exposed to serotonin reuptake inhibitors (SSRI) in utero, we performed systematic review and meta-analysis of relevant studies. Five case-control and three cohort studies were eligible for the analysis. The SSRI group had significantly higher risk of ASD than the SSRI non-exposed group (pooled OR 1.45, 95% CI 1.15 to 1.82). In the subgroup analyses, however, the risk of ASD was similar between the SSRI group and other antidepressants group (pooled OR 1.14, 95% CI 0.67-1.96). Furthermore, when the analysis was confined to those born to the women with psychiatric disorders, the SSRI group did not show an increased ASD risk (pooled OR 0.96, 95% CI 0.57-1.63) compared to non-exposed groups. In conclusion, SSRI use in pregnancy is associated with an increased risk of ASD in the offspring, but maternal psychiatric condition is a major confounding factor.
Lien vers le texte intégral (Open Access ou abonnement)
8. Li Y, Yu D. {{Weak network efficiency in young children with Autism Spectrum Disorder: Evidence from a functional near-infrared spectroscopy study}}. {Brain Cogn};2016 (Jul 27);108:47-55.
Functional near infrared spectroscopy (fNIRS) is particularly suited for the young population and ecological measurement. However, thus far, not enough effort has been given to the clinical diagnosis of young children with Autism Spectrum Disorder (ASD) by using fNIRS. The current study provided some insights into the quantitative analysis of functional networks in young children (ages 4.8-8.0years old) with and without ASD and, in particular, investigated the network efficiency and lobe-level connectivity of their functional networks while watching a cartoon. The main results included that: (i) Weak network efficiency was observed in young children with ASD, even for a wide range of threshold for the binarization of functional networks; (ii) A maximum classification accuracy rate of 83.3% was obtained for all participants by using the k-means clustering method with network efficiencies as the feature parameters; and (iii) Weak lobe-level inter-region connections were uncovered in the right prefrontal cortex, including its linkages with the left prefrontal cortex and the bilateral temporal cortex. Such results indicate that the right prefrontal cortex might make a major contribution to the psychopathology of young children with ASD at the functional network architecture level, and at the functional lobe-connectivity level, respectively.
Lien vers le texte intégral (Open Access ou abonnement)
9. Reed P, Howse J, Ho B, Osborne LA. {{Relationship between perceived limit-setting abilities, autism spectrum disorder severity, behaviour problems and parenting stress in mothers of children with autism spectrum disorder}}. {Autism};2016 (Jul 28)
Parenting stress in mothers of children with autism spectrum disorder (ASD) is high and impacts perceptions about parenting. This study examined the relationship between parenting stress and observer-perceived limit-setting ability. Participants’ perceptions of other parents’ limit-setting ability were assessed by showing participants video clips of parenting behaviours. Mothers of 93 children with autism spectrum disorder completed an online survey regarding the severity of their own child’s autism spectrum disorder (Social Communication Questionnaire), their child’s behaviour problems (Strengths and Difficulties Questionnaire) and their own levels of parenting stress (Questionnaire on Resources and Stress). They were shown five videos of other parents interacting with children with autism spectrum disorder and were asked to rate the limit-setting abilities observed in each video using the Parent-Child Relationship Inventory. Higher parenting stress negatively related to judgements about others’ limit-setting skills. This mirrors the literature regarding the relationship between self-reported parenting stress and rating child behaviour more negatively. It suggests that stress negatively impacts a wide range of judgements and implies that caution may be required when interpreting the results of studies in which parenting skills are assessed by self-report.
Lien vers le texte intégral (Open Access ou abonnement)
10. Strati F, Cavalieri D, Albanese D, De Felice C, Donati C, Hayek J, Jousson O, Leoncini S, Pindo M, Renzi D, Rizzetto L, Stefanini I, Calabro A, De Filippo C. {{Altered gut microbiota in Rett syndrome}}. {Microbiome};2016;4(1):41.
BACKGROUND: The human gut microbiota directly affects human health, and its alteration can lead to gastrointestinal abnormalities and inflammation. Rett syndrome (RTT), a progressive neurological disorder mainly caused by mutations in MeCP2 gene, is commonly associated with gastrointestinal dysfunctions and constipation, suggesting a link between RTT’s gastrointestinal abnormalities and the gut microbiota. The aim of this study was to evaluate the bacterial and fungal gut microbiota in a cohort of RTT subjects integrating clinical, metabolomics and metagenomics data to understand if changes in the gut microbiota of RTT subjects could be associated with gastrointestinal abnormalities and inflammatory status. RESULTS: Our findings revealed the occurrence of an intestinal sub-inflammatory status in RTT subjects as measured by the elevated values of faecal calprotectin and erythrocyte sedimentation rate. We showed that, overall, RTT subjects harbour bacterial and fungal microbiota altered in terms of relative abundances from those of healthy controls, with a reduced microbial richness and dominated by microbial taxa belonging to Bifidobacterium, several Clostridia (among which Anaerostipes, Clostridium XIVa, Clostridium XIVb) as well as Erysipelotrichaceae, Actinomyces, Lactobacillus, Enterococcus, Eggerthella, Escherichia/Shigella and the fungal genus Candida. We further observed that alterations of the gut microbiota do not depend on the constipation status of RTT subjects and that this dysbiotic microbiota produced altered short chain fatty acids profiles. CONCLUSIONS: We demonstrated for the first time that RTT is associated with a dysbiosis of both the bacterial and fungal component of the gut microbiota, suggesting that impairments of MeCP2 functioning favour the establishment of a microbial community adapted to the costive gastrointestinal niche of RTT subjects. The altered production of short chain fatty acids associated with this microbiota might reinforce the constipation status of RTT subjects and contribute to RTT gastrointestinal physiopathology.
Lien vers le texte intégral (Open Access ou abonnement)
11. Teti M, Cheak-Zamora N, Lolli B, Maurer-Batjer A. {{Reframing Autism: Young Adults With Autism Share Their Strengths Through Photo-Stories}}. {J Pediatr Nurs};2016 (Jul 26)
A dearth of research describes the lives of young adults with autism spectrum disorder (ASD) from the perspectives of young adults themselves. We explored young adults’ strengths using Photovoice, a method in which participants use images and discussions to express themselves. Images were purposefully chosen to help young people participate in the research process. DESIGN AND METHODS: Eleven young adults captured their experiences growing up with ASD via images, and participated in three group photo discussions, an individual photo interview, and a photo exhibit. Qualitative data for analysis included session transcripts and photographs. We used strategies of theme analysis to understand participants’ experiences. RESULTS: The mean age of the sample was 20years, and 7 participants were male. Three sub-themes describe youth’s strengths: 1) special interests that cultivated positive emotions and coping strategies; 2) skills and activities that evoked pride; and 3) reframing ASD as special versus a disadvantage. CONCLUSIONS: The Photovoice method is well-suited to help young adults identify and express their strengths. Self-generated images and stories may offer a creative and effective form of communication for young adults with ASD. PRACTICE IMPLICATIONS: Health care practitioners can capitalize on how Photovoice helps young adults express themselves by using images to understand their health priorities and involve young adults in their care plans. With images of strength, for example, nurses can build young adults’ confidence and help these individuals to identify areas of their mental and physical lives in which they can thrive and experience improved quality of life.
