1. Abdallah MW, Larsen N, Grove J, Norgaard-Pedersen B, Thorsen P, Mortensen EL, Hougaard DM. {{Amniotic fluid chemokines and autism spectrum disorders: an exploratory study utilizing a Danish Historic Birth Cohort}}. {Brain, behavior, and immunity}. 2012 Jan;26(1):170-6.
INTRODUCTION: Elevated levels of chemokines have been reported in plasma and brain tissue of individuals with Autism Spectrum Disorders (ASD). The aim of this study was to examine chemokine levels in amniotic fluid (AF) samples of individuals diagnosed with ASD and their controls. MATERIAL AND METHODS: A Danish Historic Birth Cohort (HBC) kept at Statens Serum Institute, Copenhagen was utilized. Using data from Danish nation-wide health registers, a case-control study design of 414 cases and 820 controls was adopted. Levels of MCP-1, MIP-1alpha and RANTES were analyzed using Luminex xMAP technology. Case-control differences were assessed as dichotomized at below the 10th percentile or above the 90th percentile cut-off points derived from the control biomarker distributions (logistic regression) or continuous measures (tobit regression). RESULTS AND CONCLUSION: AF volume for 331 cases and 698 controls was sufficient for Luminex analysis. Including all individuals in the cohort yielded no significant differences in chemokine levels in cases versus controls. Logistic regression analyses, performed on individuals diagnosed using ICD-10 only, showed increased risk for ASD with elevated MCP-1 (elevated 90th percentile adjusted OR: 2.32 [95% CI: 1.17-4.61]) compared to controls. An increased risk for infantile autism with elevated MCP-1 was also found (adjusted OR: 2.28 [95% CI: 1.16-4.48]). Elevated levels of MCP-1 may decipher an etiologic immunologic dysfunction or play rather an indirect role in the pathophysiology of ASD. Further studies to confirm its role and to identify the potential pathways through which MCP-1 may contribute to the development of ASD are necessary.
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2. Baranek GT, Danko CD, Skinner ML, Bailey DB, Jr., Hatton DD, Roberts JE, Mirrett PL. {{Video analysis of sensory-motor features in infants with fragile x syndrome at 9-12 months of age}}. {J Autism Dev Disord}. 2012 Jan;42(1):146.
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3. Bennett T, Boyle M, Georgiades K, Georgiades S, Thompson A, Duku E, Bryson S, Fombonne E, Vaillancourt T, Zwaigenbaum L, Smith I, Mirenda P, Roberts W, Volden J, Waddell C, the Pathways in ASDST, Peter S. {{Influence of reporting effects on the association between maternal depression and child autism spectrum disorder behaviors}}. {J Child Psychol Psychiatry}. 2012 Jan;53(1):89-96.
Background: Maximizing measurement accuracy is an important aim in child development assessment and research. Parents are essential informants in the diagnostic process, and past research suggests that certain parental characteristics may influence how they report information about their children. This has not been studied in autism spectrum disorders (ASD) to date. We aimed, therefore, to investigate the possible effect that maternal depression might have on a mother’s reports of her child’s ASD behaviors. Using structural equation modeling, we disaggregated shared from unique variation in the association between latent variable measures of maternal depression and ASD behaviors. Methods: Data were obtained from a study of preschoolers aged 2-4 newly diagnosed with ASD (n = 214). Information from a parent questionnaire, a semi-structured parent interview, and a semi-structured observational assessment was used to develop a latent variable measure of child ASD behaviors. Mothers reported on their own depression symptoms. We first modeled the covariance between maternal depression and child ASD behavior. Then, to quantify unique variation, we added covariance terms between maternal depression and the residual variation associated with the individual measures of child ASD behaviors. Results: The model demonstrated excellent fit to the underlying data. Maternal self-report of depression symptoms exhibited a significant association with the unique variance of the questionnaire report but not with the latent variable measure of child ASD behavior. A gradient pattern of association was demonstrated between maternal depression and the unique variance of the ASD measures: most strongly for the maternal questionnaire report, more weakly for the maternal semi-structured interview, and to a trivial extent for the observational interview. Conclusions: Parental depression may influence reporting of ASD behaviors in preschoolers. Shared method effects may also contribute to bias. This finding highlights the importance of obtaining multimethod reports of child ASD symptoms.
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4. Blanchard DC, Defensor EB, Meyza KZ, Pobbe RL, Pearson BL, Bolivar VJ, Blanchard RJ. {{BTBR T+tf/J mice: autism-relevant behaviors and reduced fractone-associated heparan sulfate}}. {Neuroscience and biobehavioral reviews}. 2012 Jan;36(1):285-96.
BTBR T+tf/J (BTBR) mice have emerged as strong candidates to serve as models of a range of autism-relevant behaviors, showing deficiencies in social behaviors; reduced or unusual ultrasonic vocalizations in conspecific situations; and enhanced, repetitive self-grooming. Recent studies have described their behaviors in a seminatural visible burrow system (VBS); a Social Proximity Test in which avoidance of a conspecific is impossible; and in an object approach and investigation test evaluating attention to specific objects and potential stereotypies in the order of approaching/investigating objects. VBS results confirmed strong BTBR avoidance of conspecifics and in the Social Proximity Test, BTBR showed dramatic differences in several close-in behaviors, including specific avoidance of a nose-to-nose contact that may potentially be related to gaze-avoidance. Diazepam normalized social avoidance by BTBRs in a Three-Chamber Test, and some additional behaviors – but not nose to nose avoidance – in the Social Proximity Test. BTBR also showed higher levels of preference for particular objects, and higher levels of sequences investigating 3- or 4-objects in the same order. Heparan sulfate (HS) associated with fractal structures in the subventricular zone of the lateral ventricles was severely reduced in BTBR. HS may modulate the functions of a range of growth and guidance factors during development, and HS abnormalities are associated with relevant brain (callosal agenesis) and behavioral (reductions in sociality) changes; suggesting the value of examination of the dynamics of the HS system in the context of autism.
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5. Brown WT. {{Clinical aspects of the fragile x syndrome}}. {Results and problems in cell differentiation}. 2012;54:273-9.
Fragile X syndrome patients express a wide array of cognitive and other gender-specific phenotypic features. These manifestations result not only from molecular mechanisms that are altered as a result of the expansion of a CGG-repeat region in the FMR1 promoter, but also genetic factors such as founder effects and mosaicism. In this chapter, I will summarize the many and varied features of fragile X syndrome as they present themselves in a clinical setting and describe the procedures that are used to diagnose patients. Finally, I will briefly touch on recent developments that will affect patient screening in the future.
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6. Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, Tsuang MT, Wijsman EM, Raskind WH, Brkanac Z. {{Evidence for involvement of GNB1L in autism}}. {American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics}. 2012 Jan;159B(1):61-71.
Structural variations in the chromosome 22q11.2 region mediated by nonallelic homologous recombination result in 22q11.2 deletion (del22q11.2) and 22q11.2 duplication (dup22q11.2) syndromes. The majority of del22q11.2 cases have facial and cardiac malformations, immunologic impairments, specific cognitive profile and increased risk for schizophrenia and autism spectrum disorders (ASDs). The phenotype of dup22q11.2 is frequently without physical features but includes the spectrum of neurocognitive abnormalities. Although there is substantial evidence that haploinsufficiency for TBX1 plays a role in the physical features of del22q11.2, it is not known which gene(s) in the critical 1.5 Mb region are responsible for the observed spectrum of behavioral phenotypes. We identified an individual with a balanced translocation 46,XY,t(1;22)(p36.1;q11.2) and a behavioral phenotype characterized by cognitive impairment, autism, and schizophrenia in the absence of congenital malformations. Using somatic cell hybrids and comparative genomic hybridization (CGH) we mapped the chromosome-22 breakpoint within intron 7 of the GNB1L gene. Copy number evaluations and direct DNA sequencing of GNB1L in 271 schizophrenia and 513 autism cases revealed dup22q11.2 in two families with autism and private GNB1L missense variants in conserved residues in three families (P = 0.036). The identified missense variants affect residues in the WD40 repeat domains and are predicted to have deleterious effects on the protein. Prior studies provided evidence that GNB1L may have a role in schizophrenia. Our findings support involvement of GNB1L in ASDs as well. (c) 2011 Wiley Periodicals, Inc.
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7. Corrigan NM, Shaw DW, Richards TL, Estes AM, Friedman SD, Petropoulos H, Artru AA, Dager SR. {{Proton magnetic resonance spectroscopy and MRI reveal no evidence for brain mitochondrial dysfunction in children with autism spectrum disorder}}. {J Autism Dev Disord}. 2012 Jan;42(1):105-15.
Brain mitochondrial dysfunction has been proposed as an etiologic factor in autism spectrum disorder (ASD). Proton magnetic resonance spectroscopic imaging ((1)HMRS) and MRI were used to assess for evidence of brain mitochondrial dysfunction in longitudinal samples of children with ASD or developmental delay (DD), and cross-sectionally in typically developing (TD) children at 3-4, 6-7 and 9-10 years-of-age. A total of 239 studies from 130 unique participants (54ASD, 22DD, 54TD) were acquired. (1)HMRS and MRI revealed no evidence for brain mitochondrial dysfunction in the children with ASD. Findings do not support a substantive role for brain mitochondrial abnormalities in the etiology or symptom expression of ASD, nor the widespread use of hyperbaric oxygen treatment that has been advocated on the basis of this proposed relationship.
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8. Diehl JJ, Paul R. {{Acoustic Differences In The Imitation Of Prosodic Patterns In Children With Autism Spectrum Disorders}}. {Research in autism spectrum disorders}. 2012 Jan;6(1):123-34.
In research, it has been difficult to characterize the prosodic production differences that have been observed clinically in Autism Spectrum Disorders (ASD). Moreover, the nature of these differences has been particularly hard to identify. This study examined one possible contributor to these perceived differences: motor planning. We examined the ability of children and adolescents with ASD to imitate prosodic patterns in comparison to a group with learning disabilities (LD) and a typically-developing (TD) comparison group. Overall, we found that both the ASD and LD groups were significantly worse at perceiving and imitating prosodic patterns than the TD comparison group. Similar to previous studies using non-imitative speech, participants with ASD showed a significantly longer duration of utterances than the two comparison groups when attempting to imitate an intonation pattern. The implications of differences in duration of utterances are discussed. This study also highlights the importance of using clinical comparison groups in studies of language performance in individuals with ASD.
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9. Diehl JJ, Schmitt LM, Villano M, Crowell CR. {{The Clinical Use of Robots for Individuals with Autism Spectrum Disorders: A Critical Review}}. {Research in autism spectrum disorders}. 2012 Jan;6(1):249-62.
We examined peer-reviewed studies in order to understand the current status of empirically-based evidence on the clinical applications of robots in the diagnosis and treatment of Autism Spectrum Disorders (ASD). Studies are organized into four broad categories: (a) the response of individuals with ASD to robots or robot-like behavior in comparison to human behavior, (b) the use of robots to elicit behaviors, (c) the use of robots to model, teach, and/or practice a skill, and (d) the use of robots to provide feedback on performance. A critical review of the literature revealed that most of the findings are exploratory and have methodological limitations that make it difficult to draw firm conclusions about the clinical utility of robots. Finally, we outline the research needed to determine the incremental validity of this technique.
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10. Dunphy-Lelii S, Wellman HM. {{Delayed Self Recognition in Autism: A Unique Difficulty?}}. {Research in autism spectrum disorders}. 2012 Jan;6(1):212-23.
Achieving a sense of self is a crucial task of ordinary development. With which aspects of self do children with autism have particular difficulty? Two prior studies concluded that children with autism are unimpaired in delayed self-recognition; we confirm and clarify this conclusion by examining it in conjunction with another key aspect of self understanding, including several needed controls and contrasts. Three groups of children were tested in a delayed self-recognition paradigm as well as a self-other action memory card game in which they took turns placing pictures with an adult: 3-year-olds (n = 25), 5-year-olds (n = 27), and children with autism spectrum disorder (n = 20). Children with autism spectrum disorder (ASD) demonstrated impaired performance on self-other recall compared to both typical 5-year-olds and typical 3-year-olds, but were not significantly different on delayed self-recognition. Results are discussed with regard to the unique profile of self-related performance in autism.
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11. Durkin K, Conti-Ramsden G, Simkin Z. {{Functional Outcomes of Adolescents with a History of Specific Language Impairment (SLI) with and without Autistic Symptomatology}}. {J Autism Dev Disord}. 2012 Jan;42(1):123-38.
This study investigates whether the level of language ability and presence of autistic symptomatology in adolescents with a history of SLI is associated with differences in the pattern of difficulties across a number of areas of later functioning. Fifty-two adolescents with a history of SLI participated. At age 14, 26 participants had a history of SLI but no autistic symptomatology and 26 had a history of SLI and autistic symptomatology. At age 16, outcomes were assessed in the areas of friendships, independence, academic achievement, emotional health and early work experience for both subgroups and for 85 typically developing peers. Autistic symptomatology was a strong predictor of outcomes in friendships, independence and early work experience whilst language was a strong predictor of academic achievement. No significant associations were found for later emotional health.
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12. Efstratopoulou M, Janssen R, Simons J. {{Differentiating children with attention-deficit/hyperactivity disorder, conduct disorder, learning disabilities and autistic spectrum disorders by means of their motor behavior characteristics}}. {Res Dev Disabil}. 2012 Jan-Feb;33(1):196-204.
The study was designed to investigate the discriminant validity of the Motor Behavior Checklist (MBC) for distinguishing four group of children independently classified with Attention-Deficit/Hyperactivity Disorder, (ADHD; N=22), Conduct Disorder (CD; N=17), Learning Disabilities (LD; N=24) and Autistic Spectrum Disorders (ASD; N=20). Physical education teachers used the MBC for children to rate their pupils based on their motor related behaviors. A multivariate analysis revealed significant differences among the groups on different problem scales. The results indicated that the MBC for children may be effective in discriminating children with similar disruptive behaviors (e.g., ADHD, CD) and autistic disorders, based on their motor behavior characteristics, but not children with Learning Disabilities (LD), when used by physical education teachers in school settings.
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13. Feldman MA, Ward RA, Savona D, Regehr K, Parker K, Hudson M, Penning H, Holden JJ. {{Development and initial validation of a parent report measure of the behavioral development of infants at risk for autism spectrum disorders}}. {J Autism Dev Disord}. 2012 Jan;42(1):13-22.
We developed and evaluated a new parent report instrument-Parent Observation of Early Markers Scale (POEMS)-to monitor the behavioral development of infants at risk for autism spectrum disorder (ASD) because they have older affected siblings. Parents of 108 at-risk infants (74 males, 34 females) completed the POEMS from child age 1-24 months. The POEMS had acceptable psychometric properties and promising predictive validity. Most concerning items were social and communication deficits, and intolerance to waiting. Results provide preliminary evidence that prospective parent report measures can help to detect early ASD symptoms in infants at biological risk. We invite researchers to join us in multi-center studies of the POEMS.
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14. Foss-Feig JH, Heacock JL, Cascio CJ. {{TACTILE RESPONSIVENESS PATTERNS AND THEIR ASSOCIATION WITH CORE FEATURES IN AUTISM SPECTRUM DISORDERS}}. {Research in autism spectrum disorders}. 2012 Winter;6(1):337-44.
Autism spectrum disorders (ASD) are often associated with aberrant responses to sensory stimuli, which are thought to contribute to the social, communication, and repetitive behavior deficits that define ASD. However, there are few studies that separate aberrant sensory responses by individual sensory modality to assess modality-specific associations between sensory features and core symptoms. Differences in response to tactile stimuli are prevalent in ASD, and tactile contact early in infancy is a foundation for the development of social and communication skills affected by ASD. We assessed the association between three aberrant patterns of tactile responsiveness (hyper-responsiveness, hypo-responsiveness, sensory seeking) and core symptoms of ASD. Both sensory and core features were measured with converging methods including both parent-report and direct observation. Our results demonstrate that for the tactile modality, sensory hypo-responsiveness correlates strongly with increased social and communication impairments, and to a lesser degree, repetitive behaviors. Sensory seeking was found to correlate strongly with social impairment, nonverbal communication impairment, and repetitive behaviors. Surprisingly, tactile hyper-responsiveness did not significantly correlate with any core features of ASD. This differential association between specific tactile processing patterns and core features provides an important step in defining the significance of sensory symptoms in ASD, and may be useful in the development of sensory-based approaches for early detection and intervention.
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15. Frazier TW, Youngstrom EA, Speer L, Embacher R, Law P, Constantino J, Findling RL, Hardan AY, Eng C. {{Validation of Proposed DSM-5 Criteria for Autism Spectrum Disorder}}. {Journal of the American Academy of Child and Adolescent Psychiatry}. 2012 Jan;51(1):28-40 e3.
OBJECTIVE: The primary aim of the present study was to evaluate the validity of proposed DSM-5 criteria for autism spectrum disorder (ASD). METHOD: We analyzed symptoms from 14,744 siblings (8,911 ASD and 5,863 non-ASD) included in a national registry, the Interactive Autism Network. Youth 2 through 18 years of age were included if at least one child in the family was diagnosed with ASD. Caregivers reported symptoms using the Social Responsiveness Scale and the Social Communication Questionnaire. The structure of autism symptoms was examined using latent variable models that included categories, dimensions, or hybrid models specifying categories and subdimensions. Diagnostic efficiency statistics evaluated the proposed DSM-5 algorithm in identifying ASD. RESULTS: A hybrid model that included both a category (ASD versus non-ASD) and two symptom dimensions (social communication/interaction and restricted/repetitive behaviors) was more parsimonious than all other models and replicated across measures and subsamples. Empirical classifications from this hybrid model closely mirrored clinical ASD diagnoses (90% overlap), implying a broad ASD category distinct from non-ASD. DSM-5 criteria had superior specificity relative to DSM-IV-TR criteria (0.97 versus 0.86); however sensitivity was lower (0.81 versus 0.95). Relaxing DSM-5 criteria by requiring one less symptom criterion increased sensitivity (0.93 versus 0.81), with minimal reduction in specificity (0.95 versus 0.97). CONCLUSIONS: Results supported the validity of proposed DSM-5 criteria for ASD as provided in Phase I Field Trials criteria. Increased specificity of DSM-5 relative to DSM-IV-TR may reduce false positive diagnoses, a particularly relevant consideration for low base rate clinical settings. Phase II testing of DSM-5 should consider a relaxed algorithm, without which as many as 12% of ASD-affected individuals, particularly females, will be missed. Relaxed DSM-5 criteria may improve identification of ASD, decreasing societal costs through appropriate early diagnosis and maximizing intervention resources.
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16. Ganz JB, Earles-Vollrath TL, Heath AK, Parker RI, Rispoli MJ, Duran JB. {{A meta-analysis of single case research studies on aided augmentative and alternative communication systems with individuals with autism spectrum disorders}}. {J Autism Dev Disord}. 2012 Jan;42(1):60-74.
Many individuals with autism cannot speak or cannot speak intelligibly. A variety of aided augmentative and alternative communication (AAC) approaches have been investigated. Most of the research on these approaches has been single-case research, with small numbers of participants. The purpose of this investigation was to meta-analyze the single case research on the use of aided AAC with individuals with autism spectrum disorders (ASD). Twenty-four single-case studies were analyzed via an effect size measure, the Improvement Rate Difference (IRD). Three research questions were investigated concerning the overall impact of AAC interventions on targeted behavioral outcomes, effects of AAC interventions on individual targeted behavioral outcomes, and effects of three types of AAC interventions. Results indicated that, overall, aided AAC interventions had large effects on targeted behavioral outcomes in individuals with ASD. AAC interventions had positive effects on all of the targeted behavioral outcome; however, effects were greater for communication skills than other categories of skills. Effects of the Picture Exchange Communication System and speech-generating devices were larger than those for other picture-based systems, though picture-based systems did have small effects.
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17. Gebregziabher M, Shotwell MS, Charles JM, Nicholas JS. {{Comparison of Methods for Identifying Phenotype Subgroups Using Categorical Features Data With Application to Autism Spectrum Disorder}}. {Computational statistics & data analysis}. 2012 Jan 1;56(1):114-25.
We evaluate the performance of the Dirichlet process mixture (DPM) and the latent class model (LCM) in identifying autism phenotype subgroups based on categorical autism spectrum disorder (ASD) diagnostic features from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition Text Revision. A simulation study is designed to mimic the diagnostic features in the ASD dataset in order to evaluate the LCM and DPM methods in this context. Likelihood based information criteria and DPM partitioning are used to identify the best fitting models. The Rand statistic is used to compare the performance of the methods in recovering simulated phenotype subgroups. Our results indicate excellent recovery of the simulated subgroup structure for both methods. The LCM performs slightly better than DPM when the correct number of latent subgroups is selected a priori. The DPM method utilizes a maximum a posteriori (MAP) criterion to estimate the number of classes, and yielded results in fair agreement with the LCM method. Comparison of model fit indices in identifying the best fitting LCM showed that adjusted Bayesian information criteria (ABIC) picks the correct number of classes over 90% of the time. Thus, when diagnostic features are categorical and there is some prior information regarding the number of latent classes, LCM in conjunction with ABIC is preferred.
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18. Goebel-Goody SM, Lombroso PJ. {{Taking STEPs Forward to Understand Fragile X Syndrome}}. {Results and problems in cell differentiation}. 2012;54:223-41.
A priority of fragile X syndrome (FXS) research is to determine the molecular mechanisms underlying the functional, behavioral, and structural deficits in humans and in the FXS mouse model. Given that metabotropic glutamate receptor (mGluR) long-term depression (LTD) is exaggerated in FXS mice, considerable effort has focused on proteins that regulate this form of synaptic plasticity. STriatal-Enriched protein tyrosine Phosphatase (STEP) is a brain-specific phosphatase implicated as an « LTD protein » because it mediates AMPA receptor internalization during mGluR LTD. STEP also promotes NMDA receptor endocytosis and inactivates ERK1/2 and Fyn, thereby opposing synaptic strengthening. We hypothesized that dysregulation of STEP may contribute to the pathophysiology of FXS. We review how STEP’s expression and activity are regulated by dendritic protein synthesis, ubiquitination, proteolysis, and phosphorylation. We also discuss implications for STEP in FXS and other disorders, including Alzheimer’s disease. As highlighted here, pharmacological interventions targeting STEP may prove successful for FXS.
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19. Gross C, Berry-Kravis EM, Bassell GJ. {{Therapeutic Strategies in Fragile X Syndrome: Dysregulated mGluR Signaling and Beyond}}. {Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology}. 2012 Jan;37(1):178-95.
Fragile X syndrome (FXS) is an inherited neurodevelopmental disease caused by loss of function of the fragile X mental retardation protein (FMRP). In the absence of FMRP, signaling through group 1 metabotropic glutamate receptors is elevated and insensitive to stimulation, which may underlie many of the neurological and neuropsychiatric features of FXS. Treatment of FXS animal models with negative allosteric modulators of these receptors and preliminary clinical trials in human patients support the hypothesis that metabotropic glutamate receptor signaling is a valuable therapeutic target in FXS. However, recent research has also shown that FMRP may regulate diverse aspects of neuronal signaling downstream of several cell surface receptors, suggesting a possible new route to more direct disease-targeted therapies. Here, we summarize promising recent advances in basic research identifying and testing novel therapeutic strategies in FXS models, and evaluate their potential therapeutic benefits. We provide an overview of recent and ongoing clinical trials motivated by some of these findings, and discuss the challenges for both basic science and clinical applications in the continued development of effective disease mechanism-targeted therapies for FXS.
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20. Hagerman R, Lauterborn J, Au J, Berry-Kravis E. {{Fragile x syndrome and targeted treatment trials}}. {Results and problems in cell differentiation}. 2012;54:297-335.
Work in recent years has revealed an abundance of possible new treatment targets for fragile X syndrome (FXS). The use of animal models, including the fragile X knockout mouse which manifests a phenotype very similar to FXS in humans, has resulted in great strides in this direction of research. The lack of Fragile X Mental Retardation Protein (FMRP) in FXS causes dysregulation and usually overexpression of a number of its target genes, which can cause imbalances of neurotransmission and deficits in synaptic plasticity. The use of metabotropic glutamate receptor (mGluR) blockers and gamma amino-butyric acid (GABA) agonists have been shown to be efficacious in reversing cellular and behavioral phenotypes, and restoring proper brain connectivity in the mouse and fly models. Proposed new pharmacological treatments and educational interventions are discussed in this chapter. In combination, these various targeted treatments show promising preliminary results in mitigating or even reversing the neurobiological abnormalities caused by loss of FMRP, with possible translational applications to other neurodevelopmental disorders including autism.
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21. Hammond JL, Hirt M, Hall SS. {{Effects of computerized match-to-sample training on emergent fraction-decimal relations in individuals with fragile X syndrome}}. {Res Dev Disabil}. 2012 Jan-Feb;33(1):1-11.
Individuals diagnosed with fragile X syndrome (FXS), the most common known form of inherited intellectual disability, are reported to exhibit considerable deficits in mathematical skills that are often attributed to brain-based abnormalities associated with the syndrome. We examined whether participants with FXS would display emergent fraction-decimal relations following brief, intensive match-to-sample training on baseline relations. The performance profiles on tests of symmetry and transitivity/equivalence of 11 participants with FXS, aged 10-23 years, following baseline match-to-sample training were compared to those of 11 age- and IQ-matched controls with idiopathic developmental disability. The results showed that both groups of participants showed significant improvements in the baseline (trained) relations, as expected. However, participants with FXS failed to show significant improvements in the (untrained) symmetry and transitivity/equivalence relations compared to those in the control group. A categorical analysis of the data indicated that five participants with FXS and eight controls showed at least « intermediate » emergence of symmetry relations, whereas one individual with FXS and three controls showed at least intermediate emergence of transitivity/equivalence relations. A correlation analysis of the data indicated that improvements in the symmetry relations were significantly associated with improvements in the transitivity/equivalence relations in the control group (r=.69, p=.018), but this was not the case in the FXS group (r=.34, p>.05). Participant IQ was significantly associated with improvements in the symmetry relations in individuals with FXS (r=.60, p=.049), but not in controls (r=.21, p>.05). Taken together, these results suggest that brief, computerized match-to-sample training may produce emergent mathematical relations for a subset of children with FXS and developmental disabilities. However, the ability of individuals with FXS to form transitivity/equivalence relations may be impaired relative to those with idiopathic developmental disabilities, which may be attributed to neurodevelopmental variables associated with the syndrome.
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22. Happe F, Charlton RA. {{Aging in autism spectrum disorders: a mini-review}}. {Gerontology}. 2012;58(1):70-8.
This article addresses an important and barely researched topic: what happens to children with autism spectrum disorders when they grow old. We review the small published literature on aging in autism. We then consider the relevance of research on ‘neurotypical’ aging in core domains of autistic impairment: social cognition, executive function, cognitive style and memory. Research themes from the study of normal aging, including cognitive reserve, compensation, quality of life, loneliness and physical health are of relevance for future research on autism. Studies of aging in autism will be important not only to plan appropriate services, but also to shed light on the full developmental trajectory of this neurodevelopmental condition, and perhaps provide clues to neuropathology and etiology.
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23. Helland WA, Biringer E, Helland T, Heimann M. {{Exploring language profiles for children with ADHD and children with asperger syndrome}}. {Journal of attention disorders}. 2012 Jan;16(1):34-43.
Objective: The aims of the present study was to investigate communication impairments in a Norwegian sample of children with ADHD and children with Asperger syndrome (AS) and to explore whether children with ADHD can be differentiated from children with AS in terms of their language profiles on the Norwegian adaptation of the Children’s Communication Checklist Second Edition (CCC-2). Method: The CCC-2 was completed by the parents, and altogether, 77 children aged between 6 and 15 years participated in the study. Results: Communication impairments were as common in a group of children with ADHD as in a group of children with AS. Although a similar pattern appeared on most CCC-2 scales, children with ADHD and children with AS could be distinguished from each other in terms of their language profiles on the subscales assessing stereotyped language and nonverbal communication. Conclusion: Language abilities should be taken into account when standard assessments of ADHD and AS are performed and before therapies are initiated.
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24. Hunsaker MR, Arque G, Berman RF, Willemsen R, Hukema RK. {{Mouse models of the fragile x premutation and the fragile x associated tremor/ataxia syndrome}}. {Results and problems in cell differentiation}. 2012;54:255-69.
The use of mutant mouse models of neurodevelopmental and neurodegenerative disease is essential in order to understand the pathogenesis of many genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). The choice of which animal model is most suitable to mimic a particular disease depends on a range of factors, including anatomical, physiological, and pathological similarities; presence of orthologs of genes of interest; and conservation of basic cell biological and metabolic processes. In this chapter, we will discuss two mouse models of the fragile X premutation which have been generated to study the pathogenesis of FXTAS and the effects of potential therapeutic interventions. Behavioral, molecular, neuropathological, and endocrine features of the mouse models and their relation to human FXTAS are discussed.
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25. Huot ME, Bisson N, Moss T, Khandjian EW. {{Manipulating the fragile x mental retardation proteins in the frog}}. {Results and problems in cell differentiation}. 2012;54:165-79.
The frog is a model of choice to study gene function during early development, since a large number of eggs are easily obtained and rapidly develop external to the mother. This makes it a highly flexible model system in which direct tests of gene function can be investigated by microinjecting RNA antisense reagents. Two members of the Fragile X Related (FXR) gene family, namely xFmr1 and xFxr1 have been identified in Xenopus. While the tissue distribution of their products was found to be identical to that in mammals, the pattern of isoform expression is less complex. Translational silencing of the xFmr1 and xFxr1 mRNAs by microinjection of antisense morpholino oligonucleotides (MO) induced dramatic morphological alterations, revealing tissue-specific requirements for each protein during development and in maintaining the steady state levels of a range of transcripts in these tissues. The power and versatility of the frog model is that the MO-induced phenotypes can be rescued by microinjection of the corresponding MO-insensitive mRNAs. Most importantly, this animal model allows one rapidly to determine whether any member of the FXR family can compensate for the absence of another, an approach that cannot be performed in other animal models.
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26. Idrissi AE, Yan X, L’Amoreaux W, Brown WT, Dobkin C. {{Neuroendocrine alterations in the fragile x mouse}}. {Results and problems in cell differentiation}. 2012;54:201-21.
The expression of GABA(A) receptors in the fragile X mouse brain is significantly downregulated. We additionally found that the expression of somatostatin and voltage-sensitive calcium channels (VSCCs) is also reduced. GABA(A) and the VSCCs, through a synergistic interaction, perform a critical role in mediating activity-dependent developmental processes. In the developing brain, GABA is excitatory and its actions are mediated through GABA(A) receptors. Subsequent to GABA-mediated depolarization, the VSCCs are activated and intracellular calcium is increased, which mediates gene transcription and other cellular events. GABAergic excitation mediated through GABA(A) receptors and the subsequent activation of the VSCCs are critically important for the establishment of neuronal connectivity within immature neuronal networks. Data from our laboratories suggest that there is a dysregulation of axonal pathfinding during development in the fragile X mouse brain and that this is likely due to a dysregulation of the synergistic interactions of GABA and VSCC. Thus, we hypothesize that the altered expression of these critical channels in the early stages of brain development leads to altered activity-dependent gene expression that may potentially lead to the developmental delay characteristic of the fragile X syndrome.
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27. Jacobs S, Cheng C, Doering LC. {{Probing astrocyte function in fragile x syndrome}}. {Results and problems in cell differentiation}. 2012;54:15-31.
Astrocytes have been recognized as a class of cells that fill the space between neurons for more than a century. From their humble beginnings in the literature as merely space filling cells, an ever expanding list of functions in the CNS now exceeds the list of functions performed by neurons. In virtually all developmental and pathological conditions in the brain, astrocytes are involved in some capacity that directly affects neuronal function. Today we recognize that astrocytes are involved in the development and function of synaptic communication. Increasing evidence suggests that abnormal synaptic function may be a prominent contributing factor to the learning disability phenotype. With the discovery of FMRP in astrocytes, coupled with a role of astrocytes in synaptic function, research directed to glial neurobiology has never been more important. This chapter highlights the current knowledge of astrocyte function with a focus on their involvement in Fragile X syndrome.
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28. Kaale A, Smith L, Sponheim E. {{A randomized controlled trial of preschool-based joint attention intervention for children with autism}}. {J Child Psychol Psychiatry}. 2012 Jan;53(1):97-105.
Background: Deficits in joint attention (JA) and joint engagement (JE) represent a core problem in young children with autism as these affect language and social development. Studies of parent-mediated and specialist-mediated JA-intervention suggest that such intervention may be effective. However, there is little knowledge about the success of the intervention when done in preschools. Aim: Assess the effects of a preschool-based JA-intervention. Methods: 61 children (48 males) with autistic disorder (29-60 months) were randomized to either 8 weeks of JA-intervention, in addition to their preschool programs (n = 34), or to preschool programs only (n = 27). The intervention was done by preschool teachers with weekly supervision by trained counselors from Child and Adolescent Mental Health Clinics (CAMHC). Changes in JA and JE were measured by blinded independent testers using Early Social Communication Scale (ESCS) and video taped preschool teacher-child and mother-child play at baseline and post-intervention. Clinical trials registration: Clinicaltrials.gov: NCT00378157. Results: Intention-to-treat analysis showed significant difference between the intervention and the control group, with the intervention group yielding more JA initiation during interaction with the preschool teachers. The effect generalized to significantly longer duration of JE with the mothers. Conclusions: This is the first randomized study to show positive and generalized effects of preschool-based JA-intervention.
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29. Khajuria R, Gupta N, Sapra S, Gulati S, Ghosh M, Kalra V, Kabra M. {{Novel non-identical MECP2 mutations in Rett syndrome family: A rare presentation}}. {Brain & development}. 2012 Jan;34(1):28-31.
INTRODUCTION: Rett syndrome (RS), an X-linked neurodevelopmental disorder and the common cause of mental retardation in females, is caused by methyl CpG binding protein 2 (MECP2) gene mutations with a frequency of more than 95% in classical Rett patients. Majority of RS cases are sporadic but few familial cases caused by either skewed X-chromosome inactivation in healthy female carriers or mosaicism in male carriers are also reported. Most of the times, the mutation carried in a family is the same as found in affected child. METHODS AND RESULTS: Here we report a unique family carrying non-identical MECP2 mutations in exon 2 wherein the proband with classical RS was carrying a de-novo early truncating frameshift mutation while her asymptomatic mother was carrying a missense mutation, both predicted as pathogenic mutations. CONCLUSIONS: These findings further validate the importance of MECP2 mutation screening in parents of all mutation positive patients and careful evaluation of the pathogenicity of the mutation found in asymptomatic carriers before providing genetic counseling to the family. The results also propose the role of other factors including other gene mutations, environmental and epigenetics factors in modifying the expression of MECP2 mutations.
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30. Kim SH, Lord C. {{Erratum to: New Autism Diagnostic Interview-Revised Algorithms for Toddlers and Young Preschoolers from 12 to 47 Months of Age}}. {J Autism Dev Disord}. 2012 Jan;42(1):94.
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31. Kim SH, Lord C. {{New autism diagnostic interview-revised algorithms for toddlers and young preschoolers from 12 to 47 months of age}}. {J Autism Dev Disord}. 2012 Jan;42(1):82-93.
Autism Diagnostic Interview-Revised (Rutter et al. in Autism diagnostic interview-revised. Western Psychological Services, Los Angeles, 2003) diagnostic algorithms specific to toddlers and young preschoolers were created using 829 assessments of children aged from 12 to 47 months with ASD, nonspectrum disorders, and typical development. The participants were divided into three more homogeneous groups by language level and age. Items that best differentiated the diagnostic groups were selected and arranged into domains based on multifactor item-response analyses. Using the new algorithms for toddlers and preschool children, we were able to improve sensitivity and specificity compared to the previously developed algorithm.
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32. Kindler S, Kreienkamp HJ. {{The role of the postsynaptic density in the pathology of the fragile x syndrome}}. {Results and problems in cell differentiation}. 2012;54:61-80.
The protein repertoire of excitatory synapses controls dendritic spine morphology, synaptic plasticity and higher brain functions. In brain neurons, the RNA-associated fragile X mental retardation protein (FMRP) binds in vivo to various transcripts encoding key postsynaptic components and may thereby substantially regulate the molecular composition of dendritic spines. In agreement with this notion functional loss of FMRP in patients affected by the fragile X syndrome (FXS) causes cognitive impairment. Here we address our current understanding of the functional role of individual postsynaptic proteins. We discuss how FMRP controls the abundance of select proteins at postsynaptic sites, which signaling pathways regulate the local activity of FMRP at synapses, and how altered levels of postsynaptic proteins may contribute to FXS pathology.
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33. Kjellmer L, Hedvall A, Fernell E, Gillberg C, Norrelgen F. {{Language and communication skills in preschool children with autism spectrum disorders: contribution of cognition, severity of autism symptoms, and adaptive functioning to the variability}}. {Res Dev Disabil}. 2012 Jan-Feb;33(1):172-80.
This study examined the contribution of cognitive function, severity of autism, and adaptive functioning to the variability in language and communication skills in 129 preschool children (aged 24-63 months) with autism spectrum disorder (ASD). Participants were selected from a representative research cohort of 208 preschool children on the basis of caregiver completion of the MacArthur-Bates Communicative Development Inventories (CDI). The children were classified into three cognitive groups: (a) Normal intelligence; (b) Developmental delay; and (c) Intellectual disability. Autism symptom severity was measured by the Autistic Behavior Checklist (ABC), and adaptive functioning by the Daily Living Skills (DLS) and Socialization (Soc) subscales from the Vineland Adaptive Behavior Scales. For each of five CDI variables (Phrases understood, Words understood, Words produced, Gestures and actions, and Language use), the contribution of cognition, severity of autism symptoms, and adaptive functioning to the variability was examined. Cognition and age explained about half or more of the variance in the four verbal language CDI variables, but only about one fourth of the variance in the non-verbal communication variable Gestures and actions. Severity of autism symptoms and the two adaptive measures (DLS and Soc) each only accounted for a few percent more of the variance in the four CDI language variables; however, for Gestures and actions, an additional 11-21% of the variance was accounted for. In conclusion, for children with ASD, receptive and expressive language is mainly related to cognitive level, whereas non-verbal communication skills seem to also be related to severity of autism symptoms and adaptive functioning.
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34. Klintwall L, Gillberg C, Bolte S, Fernell E. {{The efficacy of intensive behavioral intervention for children with autism: a matter of allegiance?}}. {J Autism Dev Disord}. 2012 Jan;42(1):139-40.
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35. Leehey MA, Hagerman PJ. {{Fragile X-associated tremor/ataxia syndrome}}. {Handbook of clinical neurology / edited by PJ Vinken and GW Bruyn}. 2012;103:373-86.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an under-recognized disorder that is a significant cause of late-adult-onset ataxia. The etiology is expansion of a trinucleotide repeat to the premutation range (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR1) gene. Expansion to >200 CGGs causes fragile X syndrome, the most common heritable cause of cognitive impairment and autism. Core features of FXTAS include progressive action tremor and gait ataxia; with frequent, more variable features of cognitive decline, especially executive dysfunction, parkinsonism, neuropathy, and autonomic dysfunction. MR imaging shows generalized atrophy and frequently abnormal signal in the middle cerebellar peduncles. Autopsy reveals intranuclear inclusions in neurons and astrocytes and dystrophic white matter. FXTAS is likely due to an RNA toxic gain-of-function of the expanded-repeat mRNA. The disorder typically affects male premutation carriers over age 50, and, less often, females. Females also are at increased risk for primary ovarian insufficiency, chronic muscle pain, and thyroid disease. Treatment targets specific symptoms, but progression of disability is relentless. Although the contribution of FXTAS to the morbidity and mortality of the aging population requires further study, the disorder is likely the most common single-gene form of tremor and ataxia in the older adult population.
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36. Levine TP, Sheinkopf SJ, Pescosolido M, Rodino A, Elia G, Lester B. {{Physiologic Arousal to Social Stress in Children with Autism Spectrum Disorders: A Pilot Study}}. {Research in autism spectrum disorders}. 2012 Winter;6(1):177-83.
Little is known about arousal to socially stressful situations in children with Autism Spectrum Disorders. This preliminary study investigates physiologic arousal in children with high functioning autism (HFA, n=19) compared to a comparison group (n=11) before, during, and after the Trier Social Stress Test. The HFA group was more likely to have a decrease in salivary cortisol following the stressor, while the comparison group was more likely to have an increase (p=.02). However, there was no difference in electrodermal activity, a measure of sympathetic arousal, or vagal tone, a measure of parasympathetic activity, between groups. These findings implicate a differential neuroendocrine response to social stress in children with HFA despite similar sympathetic and parasympathetic responses during a stressor. Further studies are required to substantiate this finding.
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37. Lintas C, Sacco R, Persico AM. {{Genome-wide expression studies in Autism spectrum disorder, Rett syndrome, and Down syndrome}}. {Neurobiology of disease}. 2012 Jan;45(1):57-68.
Though different in their aetiology, autism spectrum disorder (ASD), Rett syndrome (RTT) and Down syndrome (DS) are three neurodevelopmental disorders sharing significant clinical and neuropathological overlaps. Genome-wide expression studies are reviewed and available datasets from post-mortem brains reanalyzed to identify genes and gene pathways dysregulated in all three disorders. Our results surprisingly converge upon immune, and not neurodevelopmental genes, as the most consistently shared abnormality in genome-wide expression patterns. A dysregulated immune response, accompanied by enhanced oxidative stress and abnormal mitochondrial metabolism seemingly represents the common molecular underpinning of these neurodevelopmental disorders. This conclusion may be important for the definition of pharmacological therapies able to ameliorate clinical symptoms across these disorders.
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38. Logan SL, Nicholas JS, Carpenter LA, King LB, Garrett-Mayer E, Charles JM. {{High Prescription Drug Use and Associated Costs among Medicaid-Eligible Children with Autism Spectrum Disorders Identified by a Population-Based Surveillance Network}}. {Annals of epidemiology}. 2012 Jan;22(1):1-8.
PURPOSE: We assessed medication use and associated costs among 8- and 15-year-old children with autism spectrum disorders (ASD) identified by the South Carolina Autism and Developmental Disabilities Monitoring (SCADDM) Network. METHODS: All Medicaid-eligible SCADDM-identified children with ASD from surveillance years 2006 and 2007 were included (n = 263). Children were classified as ASD cases when documented behaviors consistent with the DSM-IV-TR criteria for autistic disorder, Asperger disorder, or pervasive developmental disorder-not otherwise specified were present in health and education evaluation records. Medication and cost data were obtained by linking population-based and Medicaid data. RESULTS: All 263 SCADDM-identified children had Medicaid data available; 56% (n = 147) had a prescription of any type, 40% (n = 105) used psychotropic medication, and 20% (n = 52) used multiple psychotropic classes during the study period. Common combinations were (1) attention deficit hyperactivity disorder medications and an antihypertensive, antidepressant or antipsychotic; and (2) antidepressants and an antipsychotic. Multiple psychotropic classes were more common among older children. Both the overall distribution of the number of prescription claims and medication costs varied significantly by age. CONCLUSIONS: Results confirm that medication use in ASD, alone or in combination, is common, costly, and may increase with age.
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39. Lokhandwala T, Khanna R, West-Strum D. {{Hospitalization burden among individuals with autism}}. {J Autism Dev Disord}. 2012 Jan;42(1):95-104.
The objective of this study was to assess the inpatient care burden among individuals with autism using the 2007 Health Care Utilization Project Nationwide Inpatient Sample [HCUP-NIS]). There were ~26,000 hospitalizations among individuals with autism in 2007, with an overall rate of 65.6/100,000 admissions. Rates of hospitalizations were the highest among individuals with autism aged 10-20 years, males, having household income >$63,000, and with private insurance, respectively. In terms of hospital characteristics, rates were the highest in hospitals in large urban areas, located in the Northeast region, and with teaching status, respectively. Individuals with autism had significantly higher LOS (6.5 vs. 4.2; p < 0.0001) and total charges ($24,862 vs. $23,225; p < 0.0001) as compared to those without autism. Lien vers le texte intégral (Open Access ou abonnement)
40. Lunsky Y, Elserafi J. {{Antipsychotic medication prescription patterns in adults with developmental disabilities who have experienced psychiatric crisis}}. {Res Dev Disabil}. 2012 Jan-Feb;33(1):32-8.
Antipsychotic medication rates are high in adults with developmental disability. This study considered rates of antipsychotic use in 743 adults with developmental disability who had experienced a psychiatric crisis. Nearly half (49%) of these adults were prescribed antipsychotics. Polypharmacy was common with 22% of those prescribed antipsychotics taking 2 or more antipsychotics at once. Predictors of multiple antipsychotic use included gender, residence, psychiatric diagnosis and previous hospitalizations. Implications of medication prescriptions to this vulnerable population are discussed.
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41. Mandy WP, Charman T, Skuse DH. {{Testing the Construct Validity of Proposed Criteria for DSM-5 Autism Spectrum Disorder}}. {Journal of the American Academy of Child and Adolescent Psychiatry}. 2012 Jan;51(1):41-50.
OBJECTIVE: To use confirmatory factor analysis to test the construct validity of the proposed DSM-5 symptom model of autism spectrum disorder (ASD), in comparison to alternative models, including that described in DSM-IV-TR. METHOD: Participants were 708 verbal children and young persons (mean age, 9.5 years) with mild to severe autistic difficulties. Autistic symptoms were measured using the Developmental, Dimensional and Diagnostic interview (3Di). The fit of the two-factor DSM-5 model, which has a social communication and a restricted, repetitive behavior (RRB) factor, was compared with that of alternative models. In one half of the sample, properties of the DSM-5 model were examined to investigate the validity of specific diagnostic criteria, informing the development of a better fitting DSM-5 model. This was then cross-validated in the remaining « hold-out » half of the sample; and its stability was tested across groups defined by age, sex, and symptom severity. RESULTS: The DSM-5 model was superior to the three-factor DSM-IV-TR model. It was improved by the removal of items measuring « play and imagination » and « stereotyped and repetitive use of language. » A scale measuring sensory abnormalities was added to the model, and loaded onto its RRB factor. This DSM-5 model fit well in the hold-out sample; was stable across age and sex; and fit adequately in those with clinical and sub-threshold autistic presentations. CONCLUSIONS: Among higher-functioning individuals, ASD is a dyad, not a triad, with distinct social communication and repetitive behavior dimensions. As suggested in the proposed DSM-5 criteria, sensory abnormalities are part of the RRB symptom cluster.
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42. Markoulakis R, Fletcher P, Bryden P. {{Seeing the glass half full: benefits to the lived experiences of female primary caregivers of children with autism}}. {Clinical nurse specialist CNS}. 2012 Jan;26(1):48-56.
PURPOSE: : Autism spectrum disorders are the most common developmental disorders, affecting 1 in 165 Canadian children. Although the experiences of the caregivers of children with autism have been examined to some extent, a thorough investigation of the benefits of this experience is warranted. METHODS: : The lived experiences of 8 married female primary caregivers of children with autism were assessed through a phenomenological study involving background questionnaires and one-on-one, semistructured interviews. All recruited participants completed the study. RESULTS: : Benefits were found in all areas of questioning, including financial, social, familial, health, and employment implications, in addition to benefits arising from activities and involvements taken on as a result of raising a child with autism. The findings shed light on an unconventional aspect of the effects of raising a child with autism. CONCLUSIONS: : Costs to these women’s experiences were not predominant, and benefits arising from the caregiving role lead to positive accounts of their lived experiences. Results have broader implications for the understanding of the primary caregiver situation and the improvement of interactions with individuals with these lived experiences. In this way, clinical nurse specialists may encourage and contribute to support systems that foster a positive experience for caregivers of children with autism spectrum disorder, the children they care for, and their families.
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43. Mashal N, Kasirer A. {{Principal component analysis study of visual and verbal metaphoric comprehension in children with autism and learning disabilities}}. {Res Dev Disabil}. 2012 Jan-Feb;33(1):274-82.
This research extends previous studies regarding the metaphoric competence of autistic and learning disable children on different measures of visual and verbal non-literal language comprehension, as well as cognitive abilities that include semantic knowledge, executive functions, similarities, and reading fluency. Thirty seven children with autism (ASD), 20 children with learning disabilities (LD), and 21 typically developed (TD) children participated in the study. Principal components analysis was used to examine the interrelationship among the various tests in each group. Results showed different patterns in the data according to group. In particular, the results revealed that there is no dichotomy between visual and verbal metaphors in TD children but rather met
