1. Egelhoff K, Lane AE. {{Brief Report: Preliminary Reliability, Construct Validity and Standardization of the Auditory Behavior Questionnaire (ABQ) for Children with Autism Spectrum Disorders}}. {J Autism Dev Disord};2012 (Aug 14)
The Auditory Behavior Questionnaire (ABQ) evaluates abnormal behavioral responses to auditory stimulation in children with Autism Spectrum Disorder (ASD). This study reports preliminary reliability, construct validity and standardization of the ABQ. Parents of children with ASD aged 7-21 years (n = 165) completed the ABQ on-line. Cronbach’s alpha was 0.94 indicating strong internal consistency. Factor analysis revealed a four-factor structure supporting previous theoretical discussion of global sensory processing difficulties and the construct validity of the ABQ. The 4-factors, (1) Difficulty in Background Noise, (2) Aversive Reactions, (3) Unresponsiveness, and (4) Stereotypic/Repetitive Behaviors, are very similar to Dunning’s (Development of a questionnaire to assess auditory behaviors in children diagnosed with autism spectrum disorders, The Ohio State University, Columbus, 2003) hypothesized factor domains. Standard factor scores for children with ASD are reported.
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2. Erdodi L, Lajiness-O’Neill R, Schmitt TA. {{Learning Curve Analyses in Neurodevelopmental Disorders: Are Children with Autism Spectrum Disorder Truly Visual Learners?}}. {J Autism Dev Disord};2012 (Aug 14)
Visual and auditory verbal learning using a selective reminding format was studied in a mixed clinical sample of children with autism spectrum disorder (ASD) (n = 42), attention-deficit hyperactivity disorder (n = 83), velocardiofacial syndrome (n = 17) and neurotypicals (n = 38) using the Test of Memory and Learning to (1) more thoroughly characterize and examine the integrity of learning and memory processes, (2) to better understand the mechanisms of learning impairment, and (3) to inform instructional practices in ASD. Contrary to expectations, children with ASD demonstrated a relative weakness in the rate of acquisition of visual in contrast to verbal learning compared to neurotypicals. They also showed a complex pattern of consolidation. Overall, between-group differences were more likely to emerge during the visual learning task, suggesting that it may be more sensitive for detecting neurodevelopmental differences. The heuristic value of assessing memory and learning across multiple trials and comparing performance during immediate and delayed recall is discussed.
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3. Fletcher-Watson S, Leekam SR, Connolly B, Collis JM, Findlay JM, McConachie H, Rodgers J. {{Attenuation of change blindness in children with autism spectrum disorders}}. {Br J Dev Psychol};2012 (Sep);30(Pt 3):446-458.
Change blindness refers to the difficulty most people find in detecting a difference between two pictures when these are presented successively, with a brief interruption between. Attention at the site of the change is required for detection. A number of studies have investigated change blindness in adults and children with autism spectrum disorders (ASD). Some have produced evidence that people with ASD find changes to social stimuli harder to detect and changes to non-social stimuli easier to detect, relative to comparison participants. However, other studies have produced entirely contradictory findings. There is a need for consistency in methodology to aid understanding of change blindness and attentional processes in ASD. Here, we replicate a change blindness study previously carried out with typically developing (TD) children and adults and with adults with ASD. Results reveal attenuated change blindness for non-social stimuli in children with ASD relative to TD norms. Our results are interpreted, alongside others’ findings, as potentially indicative of a complex relationship between different influences on attention over time.
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4. Forgeot d’Arc B, Dawson M, Soulieres I, Mottron L. {{Self-Injury in Autism is Largely Unexplained: Now What?}}. {J Autism Dev Disord};2012 (Aug 14)
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5. Giraldez-Perez RM, Avila MN, Feijoo-Cuaresma M, Heredia R, de Diego-Otero Y, Real MA, Guirado S. {{Males but not females show differences in calbindin immunoreactivity in the dorsal thalamus of the mouse model of fragile X syndrome}}. {J Comp Neurol};2012 (Aug 8)
Fragile X syndrome (FXS), the most common form of inherited mental retardation, and is caused by the loss of the Fmr1 gene product, fragile X mental retardation protein. Here we analyze the immunohistochemical expression of calcium-binding proteins in the dorsal thalamus of Fmr1 knockout mice of both sexes and compare it with that of wild-type littermates. The spatial distribution pattern of calbindin-immunoreactive cells in the dorsal thalamus was similar in wild-type and knockout mice but there was a most notable reduction in calbindin-immunoreactive cells in midline/intralaminar/posterior dorsal thalamic nuclei of male Fmr1 knockout mice. We counted the number of calbindin-immunoreactive cells in eighteen distinct nuclei of the dorsal thalamus. Knockout male mice showed a significant reduction in calbindin-immunoreactive cells (ranging 36-67% lower) whereas female knockout mice did not show significant differences (in any dorsal thalamic nucleus) when compared with their wild-type littermates. No variation in the calretinin expression pattern was observed throughout the dorsal thalamus. The number of calretinin-immunoreactive cells was similar for all experimental groups as well. Parvalbumin immunoreactivity was restricted to fibers and neuropil in the analyzed dorsal thalamic nuclei, and presented no differences between genotypes. Midline/intralaminar/posterior dorsal thalamic nuclei are involved in forebrain circuits related to memory, nociception, social fear, and auditory sensory integration, therefore we suggest that downregulation of calbindin protein expression in the dorsal thalamus of male knockout mice should be taken into account when analyzing behavioral studies in the mouse model of FXS. J. Comp. Neurol., 2012. (c) 2012 Wiley Periodicals, Inc.
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6. Jasien J, Daimon CM, Maudsley S, Shapiro BK, Martin B. {{Aging and Bone Health in Individuals with Developmental Disabilities}}. {Int J Endocrinol};2012;2012:469235.
Low bone mass density (BMD), a classical age-related health issue and a known health concern for fair skinned, thin, postmenopausal Caucasian women, is found to be common among individuals with developmental/intellectual disabilities (D/IDs). It is the consensus that BMD is decreased in both men and women with D/ID. Maintaining good bone health is important for this population as fractures could potentially go undetected in nonverbal individuals, leading to increased morbidity and a further loss of independence. This paper provides a comprehensive overview of bone health of adults with D/ID, their risk of fractures, and how this compares to the general aging population. We will specifically focus on the bone health of two common developmental disabilities, Down syndrome (DS) and cerebral palsy (CP), and will discuss BMD and fracture rates in these complex populations. Gaining a greater understanding of how bone health is affected in individuals with D/ID could lead to better customized treatments for these specific populations.
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7. Kalkman HO. {{Potential opposite roles of the extracellular signal-regulated kinase (ERK) pathway in autism spectrum and bipolar disorders}}. {Neurosci Biobehav Rev};2012 (Aug 4)
Signal transduction from the synapse to the nucleus subsequently involves transient increases in synaptic Ca(2+), activation of CaM kinases, activation of the GTPase Ras, activation of the ERK mitogen-activated protein kinase pathway, and finally GSK3 inhibition and CREB-activation. Genetic studies in autism have identified mutations and copy number variations in a number of genes involved in this synapse to nucleus signaling path. In particular, a gain of function mutation in the CACNA1C gene, deletions and disruption of the SYNGAP1 gene, a copy number variation encompassing the MAPK3 gene and a duplication of YWHAE indicate that in a subset of autism patients the ERK cascade is inappropriately activated. Predicted functional consequences of this hyperactivation would be an increase in complexity of the dendritic tree, and via inhibition of GSK3, a delayed circadian phase. The latter effect indeed fits the frequent sleep disturbances observed in autistic patients. Interestingly, the sleep disturbances in bipolar disorder patients are frequently characterized as phase advanced. A selective evaluation of genetic mutations in bipolar patients indicates that the activity of the ERK cascade, at least in a subset of patients, presumably is hypoactive. Thus, with respect to the ERK pathway, autism and bipolar disorder seem each other’s counter pole.
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8. Lokanga RA, Entezam A, Kumari D, Yudkin D, Qin M, Smith CB, Usdin K. {{Somatic expansion in mouse and human carriers of Fragile X premutation alleles}}. {Hum Mutat};2012 (Aug 8)
Repeat Expansion Diseases result from expansion of a specific tandem repeat. The three Fragile X-related disorders (FXDs) arise from germline expansions of a CGG.CCG repeat tract in the 5′ UTR of the FMR1 gene. We show here that in addition to germline expansion, expansion also occurs in the somatic cells of both mice and humans carriers of premutation alleles. Expansion in mice primarily affects brain, testis and liver with very little expansion in heart or blood. Our data would be consistent with a simple two-factor model for the organ specificity. Somatic expansion in humans may contribute to the mosaicism often seen in individuals with one of the FXDs. Since expansion risk and disease severity are related to repeat number, somatic expansion may exacerbate disease severity and contribute to the age-related increased risk of expansion seen on paternal transmission in humans. Since little somatic expansion occurs in murine lymphocytes, our data also raise the possibility that there may be discordance in humans between repeat numbers measured in blood and that present in brain. This could explain, at least in part, the variable penetrance seen in some of these disorders.
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9. Lu GB, Ou P, Xu LP, Huang HL, Cheng L, Yang SW, Qian QF, Huang Y, Xie YQ, Yu QJ, Wang ZQ, Lin Y. {{[Relationship between gene polymorphism of GABAA receptors gene and childhood autism]}}. {Zhonghua Yu Fang Yi Xue Za Zhi};2012 (May);46(5):460-464.
OBJECTIVE: To explore the relationship between gene polymorphism of GABAA receptors and childhood autism by detecting rs140682, rs2081648 and rs140679 site of single nucleotide polymorphism (SNP) in GABAA receptors gene. METHODS: A total of 94 children with autism and 124 normal children were enrolled in a hospital from November 2010 to May 2011. Childhood autism rating scale (CARS) and autism behavior checklist (ABC) were used to evaluate or investigate the case group. After collecting venous blood and extracting the genome DNA, the allele and genotype of SNP rs140682, rs2081648 and rs140679 site in GABAA receptors gene were detected by PCR-RFLP. The allele and genotype of case group and control group were analized by chi(2) test, while the score of scales was analized by Spearman rank correlation analysis. RESULTS: The age of the case group was 5.12 +/- 0.32, and it was 5.25 +/- 0.27 in the control group (P < 0.05). In case group, the frequency of genotype CC, CT and TT of rs140682 site was 44, 41 and 9, while it was 48, 65, and 11 in control group (P > 0.05), respectively. The frequency of genotype AA, AG and GG of rs2081648 site was 8, 58 and 28 in case group, while it was 12, 49 and 63 in control group (P < 0.05), respectively. In case group, the frequency of genotype CC, CT and TT of rs140679 site was 15, 36 and 43, while it was 18, 59 and 47 in control group (P > 0.05), respectively. It was revealed by Spearman rank correlation analysis that of rs2081648 site, there was a positive correlation between genotype AG and sensation factor (S), social intercourse factor (R), and language factor (L) of autism behavior checklist (ABC) (r values were 0.149, 0.165 and 0.155, all P values < 0.05). A negative correlation between genotype GG and S, R, L and self-help factor (V) was proved (r values were -0.140, -0.173, -0.158 and -0.135, all P values < 0.05). There was a positive correlation between allele A and R and L factors (r values were 0.153 and 0.137, all P values < 0.05), while a negative correlation between allele G and R and L factors (r values were -0.153 and -0.137, all P values < 0.05). In case group, 42 children were diagnosed with mild-to-moderate autism, while 52 children were severe autism. There was no statistically significant correlation between allele or genotype of SNP rs140682 and rs140679 site and the degree of autism (P > 0.05). There was a positive correlation between allele A and genotype AG and the degree of autism (r values were 0.147 and 0.616, all P values < 0.05), while a negative correlation between allele G and genotype GG and the degree of autism (r values were -0.159 and -0.616, all P values < 0.05). CONCLUSION: The SNP rs2081648 site which located in GABAA receptors gene may be related to autism. No evidence for significant association between rs140682 and rs140679 site and autism was found.
10. Michel AS, Claikens B. {{Fragile X-associated tremor/ataxia syndrome}}. {JBR-BTR};2012 (May-Jun);95(3):156-157.
11. Miyajima T, Kumada T, Saito K, Fujii T. {{Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy}}. {Brain Dev};2012 (Aug 7)
In 1999, Hirose et al. reported a Japanese family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) associated with a neuronal nicotinic acetylcholine receptor alpha4 subunit mutation (S252L). We followed the siblings of this family, and found that the elder brother had Asperger’s disorder without mental retardation (MR) and the younger brother had autistic disorder with profound MR. The clinical epileptic features of the siblings were very similar, and both had deficits in socialization, but their cognitive development differed markedly. It thus seems that epilepsy is the direct phenotype of the S252L mutation, whereas other various factors modulate the cognitive and social development. No patients with ADNFLE have previously been reported to have autism spectrum disorder or profound MR.
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12. Mohiuddin S, Ghaziuddin M. {{Psychopharmacology of Autism Spectrum Disorders: A Selective Review}}. {Autism};2012 (Aug 14)
While there is no cure for autism spectrum disorder, psychopharmacologic agents are often used with behavioral and educational approaches to treat its comorbid symptoms of hyperactivity, irritability, and aggression. Studies suggest that at least 50% of persons with autism spectrum disorder receive psychotropic medications during their life span. This selective review examines recent studies about the use of psychotropic medications in persons with autism spectrum disorder. The aim was to focus on randomized controlled trials conducted from 1990 to 2010 on this topic. A comprehensive literature search was performed using PubMed and Cochrane databases. Out of 105 studies identified for the review, only 24 were randomized controlled trials. Thus, despite the common use of these medications in autism spectrum disorder, more controlled studies are needed to determine their long-term efficacy and safety.
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13. Pankhurst MW, McLennan IS. {{Inhibin B and anti-Mullerian hormone/Mullerian-inhibiting substance may contribute to the male bias in autism}}. {Transl Psychiatry};2012;2:e148.
The autistic spectrum disorders have a significant male bias in incidence, which is unexplained. The Sertoli cells of the immature testes secrete supra-adult levels of Mullerian-inhibiting substance/anti-Mullerian hormone (AMH) and inhibin B (InhB), with both hormones being putative regulators of brain development. We report here, that 82 boys with an autism spectrum disorder have normal levels of InhB and AMH. However, the boys’ level of InhB correlated with their autism diagnostic interview-revised (ADI-R) scores for the social interaction (R=0.29, P=0.009, N=82) and communication domains (R=0.29, P=0.022, N=63), and with the number of autistic traits the boys exhibited (R=0.34 and 0.27, respectively). The strengths of the abovementioned correlates were stronger in the boys with milder autism (R=0.42 and 0.50, respectively), with AMH exhibiting a significant negative correlation to the ADI-R score in these boys (R=-0.44 and R=-0.39, respectively). Neither hormone correlated to the incidence of stereotyped and repetitive behaviours. This suggests that the male bias in the autistic spectrum has multiple determinants, which modulate the effects of an otherwise non-dimorphic pathology. Furthermore, AMH and InhB have opposing effects on the SMAD1/5/8 pathway, and opposing correlates to autistic traits, implicating the SMAD pathways as a putative point of molecular convergence for the autistic spectrum.
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14. Steinhausen HC. {{Autism spectrum disorders}}. {Acta Psychiatr Scand};2012 (Sep);126(3):229.
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15. Szeftel R, Federico C, Hakak R, Szeftel Z, Jacobson M. {{Improved access to mental health evaluation for patients with developmental disabilities using telepsychiatry}}. {J Telemed Telecare};2012 (Aug 14)
The Cedars-Sinai Telepsychiatry Clinic uses a collaborative-care model to treat patients with developmental disabilities. We examined its practice in four areas: patient characteristics, clinical care, symptom severity and diagnostic outcomes to describe the care provided and the population seen in the telepsychiatry clinic. In a chart review, 45 out of 126 cases were selected and evaluated at three times: initial evaluation, year one and year three. Most of the patients (84%) had an intellectual disability, 55% had a pervasive developmental disorder and 71% spoke approximately 50 words or less. Prior to the initial assessment, none of the patients were diagnosed with anxiety or mood disorders, while almost one-third of patients received one of these diagnoses in the telepsychiatry clinic. Patients were seen six times on average in the first year and three times in the second and third years. The telepsychiatrist recommended a change in the patient’s medication for 82% of patients at initial assessment, 41% at year one and 46% at year three. The review suggests that telepsychiatry evaluations can be valuable for patients with developmental disabilities, providing diagnostic clarity and specific recommendations that can be implemented by the primary care physician.
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16. Torres AR, Westover JB, Gibbons C, Johnson RC, Ward DC. {{Activating killer-cell immunoglobulin-like receptors (KIR) and their cognate HLA ligands are significantly increased in autism}}. {Brain Behav Immun};2012 (Aug 3)
Killer-cell immunoglobulin-like receptor (KIR) proteins are expressed on natural killer (NK) cells and appear important in innate and adaptive immunity. There are about 14 KIR genes on chromosome 19q13.4, composed of those that inhibit and those that activate NK cell killing. Haplotypes have different combinations of these genes meaning that not all genes are present in a subject. There are two main classes of cognate human leukocyte antigen (HLA) ligands (HLA-Bw4 and HLA-C1/C2) that bind to the inhibitory/activating receptors. As a general rule, the inhibitory state is maintained except when virally infected or tumor cells are encountered; however, both increased activation and inhibition states have been associated with susceptibility and protection against numerous disease states including cancer, arthritis, and psoriasis. Utilizing DNA from 158 Caucasian subjects with autism and 176 KIR control subjects we show for the first time a highly significant increase in four activating KIR genes (2DS5, 3DS1, 2DS1 and 2DS4) as measured by chi square values and odds ratios. In addition, our data suggests a highly significant increase in the activating KIR gene 2DS1 and its cognate HLA-C2 ligand (2DS1+C2; p=0.00003 [Odds ratio=2.87]). This information ties together two major immune gene complexes, the human leukocyte complex and the leukocyte receptor complex, and may partially explain immune abnormalities observed in many subjects with autism.
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17. van Rijn S, Bierman M, Bruining H, Swaab H. {{Vulnerability for autism traits in boys and men with an extra X chromosome (47,XXY): The mediating role of cognitive flexibility}}. {J Psychiatr Res};2012 (Aug 9)
The XXY chromosomal pattern (Klinefelter syndrome, KS) has been associated with specific effects on physical, neurobiological, endocrinological and psychological development. This study was focused on the described risk for autism in KS, and the cognitive mechanisms that mediate this risk. Our aim was to assess whether autistic features in KS result from impairments in executive functioning, more specifically difficulties in cognitive flexibility. In total, 71 boys and men with KS and 61 non-clinical controls participated in the study. Autistic features were assessed using the Autism-spectrum Quotient (AQ). Mental flexibility was measured using the Wisconsin Card Sorting Test (WCST). The level of autism traits was significantly increased in the KS group, the effect size for total AQ score was 1.6. The KS group also showed significantly more difficulties in cognitive flexibility, as indicated by and increased number of perseverative (but not non-perseverative) errors in the WCST. This effect was independent of intellectual functioning, age or testosterone supplements. Within the KS group, the number of perseverative errors was significantly (positively) correlated with total AQ score. Our findings suggest that KS can be associated with dysfunctions in mental flexibility, and that individuals with more mental flexibility problems also have more autism traits. This insight is relevant for diagnosis, prevention and treatment of severe problems in individuals with KS. Implications also extend beyond this specific syndrome. As executive dysfunctions in KS have also been linked to ADHD symptoms and thought disorder, this could be a shared mechanism contributing to overlap in symptoms and comorbidity between different psychiatric conditions.
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18. Williams BT, Gray KM, Tonge BJ. {{Teaching emotion recognition skills to young children with autism: a randomised controlled trial of an emotion training programme}}. {J Child Psychol Psychiatry};2012 (Aug 7)
Background: Children with autism have difficulties in emotion recognition and a number of interventions have been designed to target these problems. However, few emotion training interventions have been trialled with young children with autism and co-morbid ID. This study aimed to evaluate the efficacy of an emotion training programme for a group of young children with autism with a range of intellectual ability. Methods: Participants were 55 children with autistic disorder, aged 4-7 years (FSIQ 42-107). Children were randomly assigned to an intervention (n = 28) or control group (n = 27). Participants in the intervention group watched a DVD designed to teach emotion recognition skills to children with autism (the Transporters), whereas the control group watched a DVD of Thomas the Tank Engine. Participants were assessed on their ability to complete basic emotion recognition tasks, mindreading and theory of mind (TOM) tasks before and after the 4-week intervention period, and at 3-month follow-up. Results: Analyses controlled for the effect of chronological age, verbal intelligence, gender and DVD viewing time on outcomes. Children in the intervention group showed improved performance in the recognition of anger compared with the control group, with few improvements maintained at 3-month follow-up. There was no generalisation of skills to TOM or social skills. Conclusions: The Transporters programme showed limited efficacy in teaching basic emotion recognition skills to young children with autism with a lower range of cognitive ability. Improvements were limited to the recognition of expressions of anger, with poor maintenance of these skills at follow-up. These findings provide limited support for the efficacy of the Transporters programme for young children with autism of a lower cognitive range.
