1. Bliksted V, Ubukata S, Koelkebeck K. {{Discriminating autism spectrum disorders from schizophrenia by investigation of mental state attribution on an on-line mentalizing task: A review and meta-analysis}}. {Schizophr Res};2016 (Jan 23)
In recent years, theories of how humans form a « theory of mind » of others (« mentalizing ») have increasingly been called upon to explain impairments in social interaction in mental disorders, such as autism spectrum disorders (ASD) and schizophrenia. However, it remains unclear whether tasks that assess impairments in mentalizing can also contribute to determining differential deficits across disorders, which may be important for early identification and treatment. Paradigms that challenge mentalizing abilities in an on-line, real-life fashion have been considered helpful in detecting disease-specific deficits. In this review, we are therefore summarizing results of studies that assess the attribution of mental states using an animated triangles task. Behavioral as well as brain imaging studies in ASD and schizophrenia have been taken into account. While for neuroimaging methods, data are sparse and investigation methods inconsistent, we performed a meta-analysis of behavioral data to directly investigate performance deficits across disorders. Here, more impaired abilities in the appropriate description of interactions were found in ASD patients than in patients with schizophrenia. Moreover, an analysis of first-episode (FES) versus longer lasting (LLS) schizophrenia showed that usage of mental state terms was reduced in the LLS group. In our review and meta-analysis, we identified performance differences between ASD and schizophrenia that seem helpful in targeting differential deficits, taking into account different stages of schizophrenia. However, to tackle the deficits in more detail, studies are needed that directly compare patients with ASD and schizophrenia using behavioral or neuroimaging methods with more standardized task versions.
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2. Buckingham G, Michelakakis EE, Rajendran G. {{The Influence of Prior Knowledge on Perception and Action: Relationships to Autistic Traits}}. {J Autism Dev Disord};2016 (Jan 28)
Autism is characterised by a range of perceptual and sensorimotor deficits, which might be related to abnormalities in how autistic individuals use prior knowledge. We investigated this proposition in a large non-clinical population in the context of the size-weight illusion, where individual’s expectations about object weight influence their perceptions of heaviness and fingertip forces. Although there was no relationship between autistic traits and the magnitude of the illusion, we observed an inverse relationship between AQ scores and how expectations influenced initial fingertip force application. These findings provide a novel dissociation between how perceptual and sensorimotor processes are related to autistic traits, and suggest that, autistic traits might explain some of the variance surrounding how individuals grip and lift objects.
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3. Chan KK, To CK. {{Do Individuals with High-Functioning Autism Who Speak a Tone Language Show Intonation Deficits?}}. {J Autism Dev Disord};2016 (Jan 29)
This study investigated whether intonation deficits were observed in 19 Cantonese-speaking adults with high-functioning autism (HFA) when compared to 19 matched neurotypical (NT) controls. This study also investigated the use of sentence-final particles (SFPs) and their relationship with intonation in both groups. Standard deviations (SDs) of the fundamental frequency (F0), the total number and the type of SFPs were calculated based on narrative samples. The HFA group demonstrated significantly higher SD of F0 and a positive correlation between the type of SFPs and SD of F0. Both groups produced a similar total number and type of SFPs. The results supported the universality of atypical intonation in ASD. The relationship between intonation and SFPs could be further explored by focusing on sentences containing SFPs.
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4. Connolly N, Anixt J, Manning P, Ping ILD, Marsolo KA, Bowers K. {{Maternal metabolic risk factors for autism spectrum disorder-An analysis of electronic medical records and linked birth data}}. {Autism Res};2016 (Jan 29)
Past studies have suggested that conditions experienced by women during pregnancy (e.g. obesity and gestational diabetes mellitus (GDM)) may be associated with having a child with autism spectrum disorder (ASD). Our objective was to compare mothers who had a child diagnosed with ASD to mothers of children with a non-ASD developmental disorder (DD) or without any reported DD (controls). To accomplish the objective we collected medical record data from patients who resided in the Cincinnati Children’s Hospital Medical Center’s (CCHMC) primary catchment area and linked those data to data from birth certificates (to identify risk factors). Two comparison groups were analyzed; one with DD; and the other, controls without a reported ASD or DD. Descriptive statistics and regression analyses evaluated differences. Differences were greater comparing mothers of ASD to controls than comparing ASD to DD. Maternal obesity and GDM were associated with a statistically significant approximately 1.5-fold increased odds of having a child with an ASD. For mothers with both GDM and obesity, the association was twofold for having a child with ASD compared with controls. Maternal obesity and GDM might be associated with an increased risk of ASD in the offspring; however, no difference in risk of ASD according to BMI and GDM was seen when comparing to DD. Autism Res 2016,. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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5. Cyranoski D. {{Monkeys genetically modified to show autism symptoms}}. {Nature};2016 (Jan 28);529(7587):449.
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6. DiStefano C, Shih W, Kaiser A, Landa R, Kasari C. {{Communication growth in minimally verbal children with ASD: The importance of interaction}}. {Autism Res};2016 (Jan 29)
Little is known about language development in children with Autism Spectrum Disorders (ASD) who remain minimally verbal past age 5. While there is evidence that children can develop language after age 5, we lack detailed information. Studies of this population generally focus on discrete language skills without addressing broader social-communication abilities. As communication and social deficits are both inherent to ASD, an examination of not only what language skills are acquired, but how those skills are used in interactions is relevant. Research in typical development has examined how communication interchanges (unbroken back-and-forth exchanges around a unified purpose) develop, which can be used as a framework for studying minimally verbal children. This study examined the interchange use by 55 children with ASD over the course of a 6-month play and engagement-based communication intervention. Half of the children received intervention sessions that also incorporated a speech-generating device (SGD). Interchanges were coded by: frequency, length, function, and initiator (child or adult). Results indicated that children initiated a large proportion of interchanges and this proportion increased over time. The average length and number of interchanges increased over time, with children in the SGD group showing even greater growth. Finally, children’s total number of interchanges at baseline was positively associated with their spoken language gains over the course of intervention. This study supports the crucial relationship between social engagement and expressive language development, and highlights the need to include sustained communication interchanges as a target for intervention with this population. Autism Res 2016. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc.
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7. Elsheikh S, Kuusikko-Gauffin S, Mattila ML, Jussila K, Ebeling H, Loukusa S, Omar M, Riad G, Rautio A, Moilanen I. {{Neuropsychological performance of Finnish and Egyptian children with autism spectrum disorder}}. {Int J Circumpolar Health};2016;75:29681.
BACKGROUND: Previous studies investigating neuropsychological functioning of children with autism spectrum disorder (ASD) have only analysed certain abilities, such as executive functions or language. While comprehensive assessment of the neuropsychological profile of children with ASD has been the focus of recent research, most of the published evidence originates from single centres. Though studies on differences in neuropsychological features of children with ASD across countries are essential for identifying different phenotypes of ASD, such studies have not been conducted. OBJECTIVE: Our goal was to assess the neuropsychological abilities of children with ASD in northern Finland and Egypt and to examine the effect of age and intelligence quotient (IQ) on these abilities. DESIGN: Selected verbal and non-verbal subtests of the neuropsychological assessment NEPSY were used to examine 88 children with ASD in northern Finland (n=54, age M=11.2, IQ M=117.1) and Egypt (n=34, age M=8.4, IQ M=96.6). RESULTS: Finnish ASD children scored significantly higher than their Egyptian counterparts on the verbal NEPSY subtests Comprehension of Instructions (p<0.001), Comprehension of Sentence Structure (p<0.01), Narrative Memory (p<0.001) and Verbal Fluency (p<0.05) and on the non-verbal NEPSY subtest Design Fluency (p<0.01). Finnish and Egyptian ASD children did not differ on the subtests Memory for Faces, Object Recognition and Object Memory. In addition, we found that age and verbal IQ can have significant influence on neuropsychological performance. CONCLUSIONS: Our results suggest a possible cultural impact on verbal and visuomotor fluency. However, the ability to recognize and memorize objects and the disability to remember faces appear to be typical for ASD and culturally independent. Lien vers Pubmed
8. Filice F, Vorckel KJ, Sungur AO, Wohr M, Schwaller B. {{Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of autism}}. {Mol Brain};2016;9(1):10.
BACKGROUND: A reduction of the number of parvalbumin (PV)-immunoreactive (PV(+)) GABAergic interneurons or a decrease in PV immunoreactivity was reported in several mouse models of autism spectrum disorders (ASD). This includes Shank mutant mice, with SHANK being one of the most important gene families mutated in human ASD. Similar findings were obtained in heterozygous (PV+/-) mice for the Pvalb gene, which display a robust ASD-like phenotype. Here, we addressed the question whether the observed reduction in PV immunoreactivity was the result of a decrease in PV expression levels and/or loss of the PV-expressing GABA interneuron subpopulation hereafter called « Pvalb neurons ». The two alternatives have important implications as they likely result in opposing effects on the excitation/inhibition balance, with decreased PV expression resulting in enhanced inhibition, but loss of the Pvalb neuron subpopulation in reduced inhibition. METHODS: Stereology was used to determine the number of Pvalb neurons in ASD-associated brain regions including the medial prefrontal cortex, somatosensory cortex and striatum of PV-/-, PV+/-, Shank1-/- and Shank3B-/- mice. As a second marker for the identification of Pvalb neurons, we used Vicia Villosa Agglutinin (VVA), a lectin recognizing the specific extracellular matrix enwrapping Pvalb neurons. PV protein and Pvalb mRNA levels were determined quantitatively by Western blot analyses and qRT-PCR, respectively. RESULTS: Our analyses of total cell numbers in different brain regions indicated that the observed « reduction of PV(+) neurons » was in all cases, i.e., in PV+/-, Shank1-/- and Shank3B-/- mice, due to a reduction in Pvalb mRNA and PV protein, without any indication of neuronal cell decrease/loss of Pvalb neurons evidenced by the unaltered numbers of VVA(+) neurons. CONCLUSIONS: Our findings suggest that the PV system might represent a convergent downstream endpoint for some forms of ASD, with the excitation/inhibition balance shifted towards enhanced inhibition due to the down-regulation of PV being a promising target for future pharmacological interventions. Testing whether approaches aimed at restoring normal PV protein expression levels and/or Pvalb neuron function might reverse ASD-relevant phenotypes in mice appears therefore warranted and may pave the way for novel therapeutic treatment strategies.
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9. Kishi N, MacDonald JL, Ye J, Molyneaux BJ, Azim E, Macklis JD. {{Reduction of aberrant NF-kappaB signalling ameliorates Rett syndrome phenotypes in Mecp2-null mice}}. {Nat Commun};2016;7:10520.
Mutations in the transcriptional regulator Mecp2 cause the severe X-linked neurodevelopmental disorder Rett syndrome (RTT). In this study, we investigate genes that function downstream of MeCP2 in cerebral cortex circuitry, and identify upregulation of Irak1, a central component of the NF-kappaB pathway. We show that overexpression of Irak1 mimics the reduced dendritic complexity of Mecp2-null cortical callosal projection neurons (CPN), and that NF-kappaB signalling is upregulated in the cortex with Mecp2 loss-of-function. Strikingly, we find that genetically reducing NF-kappaB signalling in Mecp2-null mice not only ameliorates CPN dendritic complexity but also substantially extends their normally shortened lifespan, indicating broader roles for NF-kappaB signalling in RTT pathogenesis. These results provide new insight into both the fundamental neurobiology of RTT, and potential therapeutic strategies via NF-kappaB pathway modulation.
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10. Li M, Fallin MD, Riley A, Landa R, Walker SO, Silverstein M, Caruso D, Pearson C, Kiang S, Dahm JL, Hong X, Wang G, Wang MC, Zuckerman B, Wang X. {{The Association of Maternal Obesity and Diabetes With Autism and Other Developmental Disabilities}}. {Pediatrics};2016 (Jan 29)
BACKGROUND: Obesity and diabetes are highly prevalent among pregnant women in the United States. No study has examined the independent and combined effects of maternal prepregnancy obesity and maternal diabetes on the risk of autism spectrum disorder (ASD) in parallel with other developmental disorders (DDs). METHODS: This study is based on 2734 children (including 102 ASD cases), a subset of the Boston Birth Cohort who completed at least 1 postnatal study visit at Boston Medical Center between 1998 and 2014. Child ASD and other DDs were based on physician diagnoses as documented in electronic medical records. Risks of ASD and other DDs were compared among 6 groups defined by maternal prepregnancy obesity and diabetes status by using Cox proportional hazard regression controlling for potential confounders. RESULTS: When examined individually, maternal prepregnancy obesity and pregestational diabetes (PGDM) were each associated with risk of ASD. When examined in combination, only mothers with obesity and PGDM (hazard ratio 3.91, 95% confidence interval 1.76-8.68) and those with obesity and gestational diabetes (hazard ratio 3.04, 95% confidence interval 1.21-7.63) had a significantly increased risk of offspring ASD. Intellectual disabilities (IDs), but not other DDs, showed a similar pattern of increased risk associated with combined obesity and PGDM. This pattern of risk was mostly accounted for by cases with co-occurring ASD and ID. CONCLUSIONS: Maternal prepregnancy obesity and maternal diabetes in combination were associated with increased risk for ASD and ID. ASD with ID may be etiologically distinct from ASD without ID.
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11. Maekawa M, Iwayama Y, Ohnishi T, Toyoshima M, Shimamoto C, Hisano Y, Toyota T, Balan S, Matsuzaki H, Iwata Y, Takagai S, Yamada K, Ota M, Fukuchi S, Okada Y, Akamatsu W, Tsujii M, Kojima N, Owada Y, Okano H, Mori N, Yoshikawa T. {{Erratum: Investigation of the fatty acid transporter-encoding genes SLC27A3 and SLC27A4 in autism}}. {Sci Rep};2016;6:20268.
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12. Meng WD, Sun SJ, Yang J, Chu RX, Tu W, Liu Q. {{Elevated Serum Brain-Derived Neurotrophic Factor (BDNF) but not BDNF Gene Val66Met Polymorphism Is Associated with Autism Spectrum Disorders}}. {Mol Neurobiol};2016 (Jan 28)
The aim of our study was to illuminate the potential role of brain-derived neurotrophic factor (BDNF) in autism spectrum disorder (ASD). We measured the circulating levels of BDNF in serum and BDNF gene (Val66Met) polymorphisms, in which two indicators were then compared between ASD and normal controls. A total of 82 drug-naive ASD children and 82 age- and gender-matched normal controls were enrolled in the study. Their serum BDNF levels were detected by the ELISA. BDNF Val66Met polymorphism genotyping was conducted as according to the laboratory’s standard protocol in laboratory. The ASD severity assessment was mainly determined by the score of the Childhood Autism Rating Scale (CARS). ELISA assay showed that the mean serum BDNF level of children with ASD was significantly (P < 0.0001) higher than that of the control cases (17.75 +/- 5.43 vs. 11.49 +/- 2.85 ng/ml; t = 9.236). Besides, the serum BDNF levels and CARS scores (P < 0.0001) were positively related. And, the BDNF genotyping results showed that there was no difference between the ASD cases and the control. Among the children with ASD, the mean serum BDNF level of Met/Met group was lower than other groups. According to the ROC curve generated from our clinical data, the optimal cutoff value of serum BDNF levels, an indicator for diagnosis of ASD, was projected to be 12.50 ng/ml. Thus, it yielded a corresponding sensitivity of 81.7 % and the specificity of 66.9 %. Accordingly, area value under the curve was 0.836 (95 % CI, 0.774-0.897); the positive predictive value (PPV) and the negative predictive value (NPV) were 70.1 and 79.1 %, respectively. These results suggested that rather than Val66Met polymorphism, BDNF was more possible to impact the pathogenesis of ASD.
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13. Modabbernia A, Mollon J, Boffetta P, Reichenberg A. {{Impaired Gas Exchange at Birth and Risk of Intellectual Disability and Autism: A Meta-analysis}}. {J Autism Dev Disord};2016 (Jan 28)
We conducted meta-analyses of 67 studies on the association between neonatal proxies of impaired gas exchange and intellectual disability (ID) or autism spectrum disorders (ASD). Neonatal acidosis was associated with an odds ratio (OR) of 3.55 [95 % confidence interval (95 % CI) 2.23-5.49] for ID and an OR of 1.10 (95 % CI 0.91-1.31) for ASD. Children with a 5-min Apgar score of <7 had an OR of 5.39 (95 % CI 3.84-7.55) for ID and an OR of 1.67 (95 % CI 1.34-2.09) for ASD. O2 treatment was associated with an OR of 4.32 (95 % CI 3.23-5.78) for ID and an OR of 2.02 (95 % CI 1.45 to 2.83) for ASD. Our meta-analysis demonstrates an increased risk of ID and (to a lesser extent) ASD in children with neonatal hypoxia. Moreover, our findings raise the possibility that concomitant ID might account for the observed association between the gas exchange proxies and ASD.
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14. Mohammed HS, Wahass SH, Mahmoud AA. {{Incidence of autism in high risk neonatal follow up}}. {Neurosciences (Riyadh)};2016 (Jan);21(1):43-46.
OBJECTIVE: To detect autism spectrum disorder (ASD) cases within the High Risk Neonatal Follow up Program (HRNFP), as an indicator of the prevalence of ASD and associated risk factors in the Kingdom of Saudi Arabia (KSA). METHODS: We conducted this retrospective medical chart review in a tertiary care hospital in Riyadh, KSA. All patients admitted to the HRNFP were seen at 3 years corrected age between January 2012 and December 2013. Patients diagnosed with ASD from the HRNFP were referred to the King Fahad Medical City (KFMC) Autism Program for further assessment. The following potential risk factors for ASD were documented: low birth weight, gestational age less than 33 weeks, and male gender. RESULTS: In 2012, 59 patients were evaluated in the HRNFP. Three cases were diagnosed with ASD, with an ASD incidence rate of 5.1% (95% confidence interval [CI] calculated by adjusted Wald method: 1.2-14.5%). In 2013, 48 patients were evaluated and 2 cases were diagnosed with ASD, with an ASD incidence rate of 4.2% (95% CI: 0.4%-14.8%). The total ASD incidence rate during the 2-year study period was 4.7% (95% CI: 1.7%-10.8%). Factors associated with a higher likelihood of ASD were: male gender, low birth weight, and gestational age less than 33 weeks. CONCLUSION: Compared with the community, the prevalence of ASD was higher in the HRNFP. Further investigation is required to evaluate risk factors.
15. O’Neill LP, Murray LE. {{Anxiety and depression symptomatology in adult siblings of individuals with different developmental disability diagnoses}}. {Res Dev Disabil};2016 (Jan 25);51-52:116-125.
Factors predicting the emotional well-being of adult siblings of those with developmental disability (DD) remain under-researched. In this study adult siblings of individuals with Down’s syndrome (DS), autism (ASD), Prader-Willi syndrome (PWS) and those with DD but with unknown aetiology (DUA) were compared with each other and a closely-matched control group to ascertain if sibling disability type made a difference to anxiety and/or depression levels. Also considered was the interactive effect of gender, age, parental and sibling educational attainment levels, socio-economic status and birth order on anxiety and depression outcomes. With the exception of siblings of those with DS, adult siblings of those with ASD, PWS and DUA reported significantly higher levels of anxiety and depression than the control group. There were some predictive effects of the demographic variables upon anxiety and depression but none common to all disability types and no moderating effects of demographic factors were found. Consequently other solutions must be found as to why this important group of people have elevated rates of anxiety and depression in comparison to the general population.
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16. Puangpetch A, Suwannarat P, Chamnanphol M, Koomdee N, Ngamsamut N, Limsila P, Sukasem C. {{Significant Association of HLA-B Alleles and Genotypes in Thai Children with Autism Spectrum Disorders: A Case-Control Study}}. {Dis Markers};2015;2015:724935.
Autism is a severe neurodevelopmental disorder. Many susceptible causative genes have been identified. Most of the previous reports showed the relationship between the Human Leukocyte Antigen (HLA) gene and etiology of autism. In order to identify HLA-B alleles associated with autism in Thai population, we compared the frequency of HLA-B allele in 364 autistic subjects with 952 normal subjects by using a two-stage sequence-specific oligonucleotide probe system (PCR-SSOP) method based on flow-cytometry technology. HLA-B () 13:02 (P = 0.019, OR = 2.229), HLA-B () 38:02 (P = 0.049, OR = 1.628), HLA-B () 44:03 (P = 0.016, OR = 1.645), and HLA-B () 56:01 (P = 1.78 x 10(-4), OR = 4.927) alleles were significantly increased in autistic subjects compared with normal subjects. Moreover, we found that the HLA-B () 18:02 (P = 0.016, OR = 0.375) and HLA-B () 46:12 (P = 0.008, OR = 0.147) alleles were negatively associated with autism when compared to normal controls. Both alleles might have a protective role in disease development. In addition, four HLA-B genotypes of autistic patients had statistically significant relationship with control groups, consisting of HLA-B () 3905/() 5801 (P = 0.032, OR = 24.697), HLA-B () 2704/() 5801 (P = 0.022, OR = 6.872), HLA-B () 3501/() 4403 (P = 0.021, OR = 30.269), and HLA-B () 1801/() 4402 (P = 0.017, OR = 13.757). This is the first report on HLA-B associated with Thai autism and may serve as a marker for genetic susceptibility to autism in Thai population.
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17. Robins DL, Adamson LB, Barton M, Connell JE, Jr., Dumont-Mathieu T, Dworkin PH, Fein D, Greenstein MA, Hsu HW, Kerns C, Newschaffer C, Plumb J, Shattuck P, Turchi R, Vivanti G. {{Universal Autism Screening for Toddlers: Recommendations at Odds}}. {J Autism Dev Disord};2016 (Jan 28)
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18. Ruiz LM, Damron M, Jones KB, Weedon D, Carbone PS, Bakian AV, Bilder DA. {{Antipsychotic Use and Metabolic Monitoring in Individuals with Developmental Disabilities Served in a Medicaid Medical Home}}. {J Autism Dev Disord};2016 (Jan 27)
This study describes antipsychotic use and metabolic monitoring rates among individuals with developmental disabilities enrolled in a subspecialty medical home (N = 826). Four hundred ninety-nine participants (60.4 %) were taking antipsychotics, which was associated with male gender (p = 0.01), intellectual disability with and without autism spectrum disorder (p = 0.001 and p = 0.04, respectively), and inversely associated with the youngest and oldest age categories (p = 0.001 and p = 0.04, respectively). Among those taking antipsychotics, annual metabolic monitoring rates ranged from 89 % (lipids) to 99 % (weight). Age was positively associated with glucose (p < 0.001) and lipid monitoring (p < 0.001). Adult participants with dyslipidemia (p < 0.01), prediabetes/diabetes (p = 0.04), and hypertension (p = 0.02) were significantly more likely to obtain lipid monitoring. These values exceeded previously reported rates suggesting the importance of an integrated care model.
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19. Rutherford M, McKenzie K, Johnson T, Catchpole C, O’Hare A, McClure I, Forsyth K, McCartney D, Murray A. {{Gender ratio in a clinical population sample, age of diagnosis and duration of assessment in children and adults with autism spectrum disorder}}. {Autism};2016 (Jan 29)
This article reports on gender ratio, age of diagnosis and the duration of assessment procedures in autism spectrum disorder diagnosis in a national study which included all types of clinical services for children and adults. Findings are reported from a retrospective case note analysis undertaken with a representative sample of 150 Scottish children and adults recently diagnosed with autism spectrum disorder. The study reports key findings that the gender ratio in this consecutively referred cohort is lower than anticipated in some age groups and reduces with increasing age. The gender ratio in children, together with the significant difference in the mean age of referral and diagnosis for girls compared to boys, adds evidence of delayed recognition of autism spectrum disorder in younger girls. There was no significant difference in duration of assessment for males and females suggesting that delays in diagnosis of females occur prior to referral for assessment. Implications for practice and research are considered.
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20. Slappendel G, Mandy W, van der Ende J, Verhulst FC, van der Sijde A, Duvekot J, Skuse D, Greaves-Lord K. {{Utility of the 3Di Short Version for the Diagnostic Assessment of Autism Spectrum Disorder and Compatibility with DSM-5}}. {J Autism Dev Disord};2016 (Jan 29)
The Developmental Diagnostic Dimensional Interview-short version (3Di-sv) provides a brief standardized parental interview for diagnosing autism spectrum disorder (ASD). This study explored its validity, and compatibility with DSM-5 ASD. 3Di-sv classifications showed good sensitivity but low specificity when compared to ADOS-2-confirmed clinical diagnosis. Confirmatory factor analyses found a better fit against a DSM-5 model than a DSM-IV-TR model of ASD. Exploration of the content validity of the 3Di-sv for the DSM-5 revealed some construct underrepresentation, therefore we obtained data from a panel of 3Di-trained clinicians from ASD-specialized centers to recommend items to fill these gaps. Taken together, the 3Di-sv provides a solid basis to create a similar instrument suitable for DSM-5. Concrete recommendations are provided to improve DSM-5 compatibility.
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21. Suhl JA, Warren ST. {{Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP}}. {J Exp Neurosci};2015;9(Suppl 2):35-41.
Fragile X syndrome is a monogenic disorder and a common cause of intellectual disability. Despite nearly 25 years of research on FMR1, the gene underlying the syndrome, very few pathological mutations other than the typical CGG-repeat expansion have been reported. This is in contrast to other X-linked, monogenic, intellectual disability disorders, such as Rett syndrome, where many point mutations have been validated as causative of the disorder. As technology has improved and significantly driven down the cost of sequencing, allowing for whole genes to be sequenced with relative ease, in-depth sequencing studies on FMR1 have recently been performed. These studies have led to the identification of novel variants in FMR1, where some of which have been functionally evaluated and are likely pathogenic. In this review, we discuss recently identified FMR1 variants, the ways these novel variants cause dysfunction, and how they reveal new regulatory mechanisms and functionalities of the gene.
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22. Thorup E, Nystrom P, Gredeback G, Bolte S, Falck-Ytter T. {{Altered gaze following during live interaction in infants at risk for autism: an eye tracking study}}. {Mol Autism};2016;7:12.
BACKGROUND: The ability to follow gaze is an important prerequisite for joint attention, which is often compromised in children with autism spectrum disorder (ASD). The direction of both the head and eyes provides cues to other people’s attention direction, but previous studies have not separated these factors and their relation to ASD susceptibility. Development of gaze following typically occurs before ASD diagnosis is possible, and studies of high-risk populations are therefore important. METHODS: Eye tracking was used to assess gaze following during interaction in a group of 10-month-old infants at high familial risk for ASD (high-risk group) as well as a group of infants with no family history of ASD (low-risk group). The infants watched an experimenter gaze at objects in the periphery. Performance was compared across two conditions: one in which the experimenter moved both the eyes and head toward the objects (Eyes and Head condition) and one that involved movement of the eyes only (Eyes Only condition). RESULTS: A group by condition interaction effect was found. Specifically, whereas gaze following accuracy was comparable across the two conditions in the low-risk group, infants in the high-risk group were more likely to follow gaze in the Eyes and Head condition than in the Eyes Only condition. CONCLUSIONS: In an ecologically valid social situation, responses to basic non-verbal orienting cues were found to be altered in infants at risk for ASD. The results indicate that infants at risk for ASD may rely disproportionally on information from the head when following gaze and point to the importance of separating information from the eyes and the head when studying social perception in ASD.
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23. Wee CY, Yap PT, Shen D. {{Diagnosis of Autism Spectrum Disorders Using Temporally Distinct Resting-State Functional Connectivity Networks}}. {CNS Neurosci Ther};2016 (Jan 29)
INTRODUCTION: Resting-state functional magnetic resonance imaging (R-fMRI) is dynamic in nature as neural activities constantly change over the time and are dominated by repeating brief activations and deactivations involving many brain regions. Each region participates in multiple brain functions and is part of various functionally distinct but spatially overlapping networks. Functional connectivity computed as correlations over the entire time series always overlooks interregion interactions that often occur repeatedly and dynamically in time, limiting its application to disease diagnosis. AIMS: We develop a novel framework that uses short-time activation patterns of brain connectivity to better detect subtle disease-induced disruptions of brain connectivity. A clustering algorithm is first used to temporally decompose R-fMRI time series into distinct clusters with similar spatial distribution of neural activity based on the assumption that functionally distinct networks should be largely temporally distinct as brain states do not simultaneously coexist in general. A Pearson correlation-based functional connectivity network is then constructed for each cluster to allow for better exploration of spatiotemporal dynamics of individual neural activity. To reduce significant intersubject variability and to remove possible spurious connections, we use a group-constrained sparse regression model to construct a backbone sparse network for each cluster and use it to weight the corresponding Pearson correlation network. RESULTS: The proposed method outperforms the conventional static, temporally dependent fully connected correlation-based networks by at least 7% on a publicly available autism dataset. We were able to reproduce similar results using data from other centers. CONCLUSIONS: By combining the advantages of temporal independence and group-constrained sparse regression, our method improves autism diagnosis.
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24. Whiteley AD, Kurtz DL, Cash PA. {{Stigma and Developmental Disabilities in Nursing Practice and Education}}. {Issues Ment Health Nurs};2016 (Jan);37(1):26-33.
Individuals with developmental disabilities (DD) experience stigma, discrimination, and barriers, including access to appropriate health care, that restrict their ability to be equal participants in society. In this study, underlying contexts, assumptions, and ways of acting are investigated that perpetuate inequalities and pejorative treatment toward those with disabilities. Several nurse researchers and educators suggest specific content for, or approaches to, education about DD. Critical pedagogy that employs cultural competency and a disability studies’ framework to guide curriculum and course development will allow assumptions underlying common health care practices that oppress and « other » people with disabilities to be exposed and changed.
