1. Butler MG, Youngs EL, Roberts JL, Hellings JA. {{Assessment and treatment in autism spectrum disorders: a focus on genetics and psychiatry}}. {Autism Res Treat}. 2012; 2012: 242537.
Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD affects approximately 1% of children and is on the rise with significant genetic mechanisms underlying these disorders. We review the current understanding of the role of genetic and metabolic factors contributing to ASD with the use of new genetic technology. Fifty percent is diagnosed with chromosomal abnormalities, small DNA deletions/duplications, single-gene conditions, or metabolic disturbances. Genetic evaluation is discussed along with psychiatric treatment and approaches for selection of medication to treat associated challenging behaviors or comorbidities seen in ASD. We emphasize the importance of prioritizing treatment based on target symptom clusters and in what order for individuals with ASD, as the treatment may vary from patient to patient.
Lien vers le texte intégral (Open Access ou abonnement)
2. Careaga M, Ashwood P. {{Autism spectrum disorders: from immunity to behavior}}. {Methods Mol Biol}. 2012; 934: 219-40.
Autism spectrum disorders (ASD) are complex and heterogeneous with a spectrum of diverse symptoms. Mounting evidence from a number of disciplines suggests a link between immune function and ASD. Although the causes of ASD have yet to be identified, genetic studies have uncovered a host of candidate genes relating to immune regulation that are altered in ASD, while epidemiological studies have shown a relationship with maternal immune disturbances during pregnancy and ASD. Moreover, decades of research have identified numerous systemic and cellular immune abnormalities in individuals with ASD and their families. These include changes in immune cell number, differences in cytokine and chemokine production, and alterations of cellular function at rest and in response to immunological challenge. Many of these changes in immune responses are associated with increasing impairment in behaviors that are core features of ASD. Despite this evidence, much remains to be understood about the precise mechanism by which the immune system alters neurodevelopment and to what extent it is involved in the pathogenesis of ASD. With estimates of ASD as high as 1% of children, ASD is a major public health issue. Improvements in our understanding of the interactions between the nervous and immune system during early neurodevelopment and how this interaction is different in ASD will have important therapeutic implications with wide ranging benefits.
Lien vers le texte intégral (Open Access ou abonnement)
3. Chester VL, Calhoun M. {{Gait symmetry in children with autism}}. {Autism Res Treat}. 2012; 2012: 576478.
Most studies examining gait asymmetry have focused on infants and toddlers and have tended to use subjective methods of evaluating movement. No previous studies have examined gait symmetry in older children with autism using objective motion capture systems. The purpose of this paper was to quantify gait symmetry in children with autism versus age-matched controls. Fourteen children with autism (N = 14) and twenty-two (N = 22) age, height, and weight-matched controls participated in the study. An eight camera Vicon motion capture system and four Kistler force plates were used to compute temporal-spatial parameters and symmetry indices during walking. Group differences in these measures were tested using MANOVAs. No significant differences between the autism and control group were found for any of the temporal-spatial measures or symmetry indices. Therefore, results suggest that children with autism demonstrate typical symmetry or interlimb movement during gait. Further research is needed to examine the use of different gait inputs to the symmetry indices (e.g., joint angles and moments). A greater awareness of the movement patterns associated with autism may increase our understanding of this disorder and have important implications for treatment planning.
Lien vers le texte intégral (Open Access ou abonnement)
4. Dunst CJ, Trivette CM, Hamby DW. {{Meta-analysis of studies incorporating the interests of young children with autism spectrum disorders into early intervention practices}}. {Autism Res Treat}. 2012; 2012: 462531.
Incorporating the interests and preferences of young children with autism spectrum disorders into interventions to promote prosocial behavior and decrease behavior excesses has emerged as a promising practice for addressing the core features of autism. The efficacy of interest-based early intervention practices was examined in a meta-analysis of 24 studies including 78 children 2 to 6 years of age diagnosed with autism spectrum disorders. Effect size analyses of intervention versus nonintervention conditions and high-interest versus low-interest contrasts indicated that interest-based intervention practices were effective in terms of increasing prosocial and decreasing aberrant child behavior. Additionally, interest-based interventions that focused on two of the three core features of autism spectrum disorders (poor communication, poor interpersonal relationships) were found most effective in influencing child outcomes. Implications for very early intervention are discussed in terms addressing the behavior markers of autism spectrum disorders before they become firmly established.
Lien vers le texte intégral (Open Access ou abonnement)
5. Falkmer M, Parsons R, Granlund M. {{Looking through the Same Eyes? Do Teachers’ Participation Ratings Match with Ratings of Students with Autism Spectrum Conditions in Mainstream Schools?}}. {Autism Res Treat}. 2012; 2012: 656981.
To create an inclusive classroom and act accordingly, teachers’ understanding of the experiences of participation of students with autism spectrum conditions (ASCs) is crucial. This understanding may depend on the teachers’ professional experiences, support and personal interests. The aim of the present questionnaire study was to investigate how well the teachers’ ratings of their students with ASCs’ perception of participation matched with the students’ own ratings. Furthermore, possible correlations between the accuracy of teachers’ ratings and the teachers’ self-reported professional experience, support (including support-staff), and personal interest were investigated. Teachers’ ratings were also used to examine how their understandings correlated with classroom actions. The agreements between teachers’ and students’ ratings were moderate to high, and the ability to attune to the students’ perception of participation was not affected by the presence of a support-staff. The teachers’ personal interest in teaching students with ASC correlated with their accuracy, suggesting that this is a factor to consider when planning for successful placements in mainstream schools. Teachers’ understandings of the students with ASCs’ perception of being bullied or unpopular correlated with implementation of activities to improve the attitudes of classmates, but not with actions to enhance social relations for the students with ASC.
Lien vers le texte intégral (Open Access ou abonnement)
6. Gabriels RL, Agnew JA, Beresford C, Morrow MA, Mesibov G, Wamboldt M. {{Improving psychiatric hospital care for pediatric patients with autism spectrum disorders and intellectual disabilities}}. {Autism Res Treat}. 2012; 2012: 685053.
Pediatric patients with autism spectrum disorders (ASD) and/or intellectual disabilities (ID) are at greater risk for psychiatric hospitalization compared to children with other disorders. However, general psychiatric hospital environments are not adapted for the unique learning styles, needs, and abilities of this population, and there are few specialized hospital-based psychiatric care programs in the United States. This paper compares patient outcomes from a specialized psychiatric hospital program developed for pediatric patients with an ASD and/or ID to prior outcomes of this patient population in a general psychiatric program at a children’s hospital. Record review data indicate improved outcomes for patients in the specialized program of reduced recidivism rates (12% versus 33%) and decreased average lengths of inpatient stay (as short as 26 days versus 45 days). Available data from a subset of patients (n = 43) in the specialized program showed a decrease in irritability and hyperactivity behaviors from admission to discharge and that 35 previously undetected ASD diagnoses were made. Results from this preliminary study support specialized psychiatric care practices with this population to positively impact their health care outcomes.
Lien vers le texte intégral (Open Access ou abonnement)
7. Hodge D, Hoffman CD, Sweeney DP, Riggs ML. {{Relationship Between Children’s Sleep and Mental Health in Mothers of Children with and Without Autism}}. {J Autism Dev Disord}. 2012.
The study employed 90 children with autism spectrum disorders (ASDs) who were matched to 90 typically developing children on age, gender, and ethnicity. Using structural equation modeling, maternal sleep and maternal stress mediated the relationship between children’s sleep and mothers’ mental health for mothers of children with and without ASDs. Mothers of children with ASDs reported more problems related to children’s sleep, their own sleep, greater stress, and poorer mental health; however, children’s sleep and maternal sleep were more closely related to maternal stress for mothers of typically developing children. Implications of these findings and future directions for research are discussed.
Lien vers le texte intégral (Open Access ou abonnement)
8. Indah Winarni T, Chonchaiya W, Adams E, Au J, Mu Y, Rivera SM, Nguyen DV, Hagerman RJ. {{Sertraline may improve language developmental trajectory in young children with fragile x syndrome: a retrospective chart review}}. {Autism Res Treat}. 2012; 2012: 104317.
Young children with fragile X syndrome (FXS) often experience anxiety, irritability, and hyperactivity related to sensory hyperarousal. However, there are no medication recommendations with documented efficacy for children under 5 years old of age with FXS. We examined data through a chart review for 45 children with FXS, 12-50 months old, using the Mullen Scales of Early Learning (MSEL) for baseline and longitudinal assessments. All children had clinical level of anxiety, language delays based on MSEL scores, and similar early learning composite (ELC) scores at their first visit to our clinic. Incidence of autism spectrum disorder (ASD) was similar in both groups. There were 11 children who were treated with sertraline, and these patients were retrospectively compared to 34 children who were not treated with sertraline by chart review. The baseline assessments were done at ages ranging from 18 to 44 months (mean 26.9, SD 7.99) and from 12 to 50 months (mean 29.94, SD 8.64) for treated and not treated groups, respectively. Mean rate of improvement in both expressive and receptive language development was significantly higher in the group who was treated with sertraline (P < 0.0001 and P = 0.0071, resp.). This data supports the need for a controlled trial of sertraline treatment in young children with FXS.
Lien vers le texte intégral (Open Access ou abonnement)
9. Losh M, Martin GE, Klusek J, Hogan-Brown AL, Sideris J. {{Social communication and theory of mind in boys with autism and fragile x syndrome}}. {Front Psychol}. 2012; 3: 266.
Impairments in the social use of language, or pragmatics, constitute a core characteristic of autism. Problems with pragmatic language have also been documented in fragile X syndrome (FXS), a monogenic condition that is the most common known genetic cause of autism. Evidence suggests that social cognitive ability, or theory of mind, may also be impaired in both conditions, and in autism, may importantly relate to pragmatic language ability. Given the substantial overlap observed in autism and FXS, this study aimed to better define those social-communicative phenotypes that overlap in these two conditions by comparing pragmatic language ability and theory of mind in children with idiopathic autism and children with FXS, with and without autism, as well as children with Down syndrome and typically developing controls. We further examined correlations between these cognitive-behavioral phenotypes and molecular genetic variation related to the Fragile X Mental Retardation-1 gene (FMR1) in the FXS group. Results indicated that children with idiopathic autism and those with FXS and autism performed comparably on direct-assessment measures of pragmatic language and theory of mind, whereas those with FXS only did not differ from controls. Theory of mind was related to pragmatic language ability in all groups. Pragmatic language and theory of mind also correlated with genetic variation at the FMR1 locus (Cytosine-Guanine-Guanine repeats and percent methylation). These results point toward substantial overlap in the social and language phenotypes in autism and FXS and suggest a molecular genetic basis to these phenotypic profiles.
Lien vers le texte intégral (Open Access ou abonnement)
10. Marco EJ, Khatibi K, Hill SS, Siegel B, Arroyo MS, Dowling AF, Neuhaus JM, Sherr EH, Hinkley LN, Nagarajan SS. {{Children With Autism Show Reduced Somatosensory Response: An MEG Study}}. {Autism Res}. 2012.
The neural underpinnings of sensory processing differences in autism remain poorly understood. This prospective magnetoencephalography (MEG) study investigates whether children with autism show atypical cortical activity in the primary somatosensory cortex (S1) in comparison with matched controls. Tactile stimuli were clearly detectable, and painless taps were applied to the distal phalanx of the second (D2) and third (D3) fingers of the right and left hands. Three tactile paradigms were administered: an oddball paradigm (standard taps to D3 at an interstimulus interval (ISI) of 0.33 and deviant taps to D2 with ISI ranging from 1.32 s to 1.64 s); a slow-rate paradigm (D2) with an ISI matching the deviant taps in the oddball paradigm; and a fast-rate paradigm (D2) with an ISI matching the standard taps in the oddball. Study subjects were boys (age 7-11 years) with and without autism disorder. Sensory behavior was quantified using the Sensory Profile questionnaire. Boys with autism exhibited smaller amplitude left hemisphere S1 response to slow and deviant stimuli during the right-hand paradigms. In post-hoc analysis, tactile behavior directly correlated with the amplitude of cortical response. Consequently, the children were re-categorized by degree of parent-report tactile sensitivity. This regrouping created a more robust distinction between the groups with amplitude diminution in the left and right hemispheres and latency prolongation in the right hemisphere in the deviant and slow-rate paradigms for the affected children. This study suggests that children with autism have early differences in somatosensory processing, which likely influence later stages of cortical activity from integration to motor response. Autism Res 2012, **: **-**. (c) 2012 International Society for Autism Research, Wiley Periodicals, Inc.
Lien vers le texte intégral (Open Access ou abonnement)
11. Pellicano E. {{The development of executive function in autism}}. {Autism Res Treat}. 2012; 2012: 146132.
Autism is a common and often highly debilitating neurodevelopmental condition, whose core behavioral features are believed to be rooted in disrupted neurocognitive processes, including especially « executive function. » Researchers have predominantly focused upon understanding the putative causal relationship between difficulties in EF and autistic symptomatology. This paper suggests, however, that the effects of individual differences in EF should be more far-reaching, playing a significant part in the real-life outcomes of individuals with autism, including their social competence, everyday adaptive behavior, and academic achievement. It further considers the nature of the EF-outcome relationship, including the possible determinants of individual differences in EF, and makes several recommendations for future research.
Lien vers le texte intégral (Open Access ou abonnement)
12. Pini G, Scusa MF, Congiu L, Benincasa A, Morescalchi P, Bottiglioni I, Di Marco P, Borelli P, Bonuccelli U, Della-Chiesa A, Prina-Mello A, Tropea D. {{IGF1 as a Potential Treatment for Rett Syndrome: Safety Assessment in Six Rett Patients}}. {Autism Res Treat}. 2012; 2012: 679801.
Rett syndrome (RTT) is a devastating neurodevelopmental disorder that affects one in ten thousand girls and has no cure. The majority of RTT patients display mutations in the gene that codes for the methyl-CpG-binding protein 2 (MeCP2). Clinical observations and neurobiological analysis of mouse models suggest that defects in the expression of MeCP2 protein compromise the development of the central nervous system, especially synaptic and circuit maturation. Thus, agents that promote brain development and synaptic function, such as insulin-like growth factor 1 (IGF1), are good candidates for ameliorating the symptoms of RTT. IGF1 and its active peptide, (1-3) IGF1, cross the blood brain barrier, and (1-3) IGF1 ameliorates the symptoms of RTT in a mouse model of the disease; therefore they are ideal treatments for neurodevelopmental disorders, including RTT. We performed a pilot study to establish whether there are major risks associated with IGF1 administration in RTT patients. Six young girls with classic RTT received IGF1 subcutaneous injections twice a day for six months, and they were regularly monitored by their primary care physicians and by the unit for RTT in Versilia Hospital (Italy). This study shows that there are no risks associated with IGF1 administration.
Lien vers le texte intégral (Open Access ou abonnement)
13. Rodriguez IR, Saldana D, Moreno FJ. {{Support, Inclusion, and Special Education Teachers’ Attitudes toward the Education of Students with Autism Spectrum Disorders}}. {Autism Res Treat}. 2012; 2012: 259468.
This study is aimed at assessing special education teachers’ attitudes toward teaching pupils with autism spectrum disorders (ASDs) and at determining the role of variables associated with a positive attitude towards the children and their education. Sixty-nine special education teachers were interviewed. The interview included two multiple-choice Likert-type questionnaires, one about teachers’ attitude, and another about teachers’ perceived needs in relation to the specific education of the pupil with ASD. The study shows a positive view of teachers’ expectations regarding the education of pupils with ASD. A direct logistic regression analysis was performed testing for experience with the child, school relationship with an ASD network and type of school (mainstream or special) as potential predictors. Although all three variables are useful in predicting special education teachers’ attitudes, the most relevant was the relationship with an ASD network. Need for information and social support are the relatively highest needs expressed by teachers.
Lien vers le texte intégral (Open Access ou abonnement)
14. Tine M, Lucariello J. {{Unique theory of mind differentiation in children with autism and asperger syndrome}}. {Autism Res Treat}. 2012; 2012: 505393.
This study was designed to determine if ToM abilities of children with autism and Asperger syndrome differentiate into Intrapersonal ToM and Social ToM. A battery of Social and Intrapersonal ToM tasks was administered to 39 children with autism and 34 children with Asperger syndrome. For both groups of children, ToM differentiated and Intrapersonal ToM was stronger than Social ToM. This asymmetry was greater for children with autism, whose Social ToM was especially weak. These results support a differentiated, as opposed to integrated, ToM. Moreover, the findings provide a more thorough understanding of the cognitive abilities associated with autism and Asperger syndrome.
Lien vers le texte intégral (Open Access ou abonnement)
15. Vasa RA, Anderson C, Marvin AR, Rosenberg RE, Law JK, Thorn J, Sarphare G, Law PA. {{Mood disorders in mothers of children on the autism spectrum are associated with higher functioning autism}}. {Autism Res Treat}. 2012; 2012: 435646.
Mood disorders occur more frequently in family members of individuals with autism spectrum disorders (ASD) than in the general population. There may be associations between maternal mood disorder history patterns and specific ASD phenotypes. We therefore examined the relationship between maternal mood disorders and child autism spectrum disorders in 998 mother-child dyads enrolled in a national online autism registry and database. Mothers of children with ASD completed online questionnaires addressing their child’s ASD as well as their own mood disorder history. In multivariate logistic regression models of ASD diagnoses, the odds of an Asperger disorder versus autistic disorder diagnosis were higher among those children whose mothers had a lifetime history of bipolar disorder (OR 2.11, CI 1.20, 3.69) or depression (OR 1.62, CI 1.19, 2.19). Further, maternal mood disorder onset before first pregnancy was associated with higher odds (OR 2.35, CI 1.48, 3.73) of an Asperger versus autism diagnosis among this sample of children with ASD. These data suggest that differences in maternal mood disorder history may be associated with ASD phenotype in offspring.
Lien vers le texte intégral (Open Access ou abonnement)
16. Waly MI, Hornig M, Trivedi M, Hodgson N, Kini R, Ohta A, Deth R. {{Prenatal and Postnatal Epigenetic Programming: Implications for GI, Immune, and Neuronal Function in Autism}}. {Autism Res Treat}. 2012; 2012: 190930.
Although autism is first and foremost a disorder of the central nervous system, comorbid dysfunction of the gastrointestinal (GI) and immune systems is common, suggesting that all three systems may be affected by common molecular mechanisms. Substantial systemic deficits in the antioxidant glutathione and its precursor, cysteine, have been documented in autism in association with oxidative stress and impaired methylation. DNA and histone methylation provide epigenetic regulation of gene expression during prenatal and postnatal development. Prenatal epigenetic programming (PrEP) can be affected by the maternal metabolic and nutritional environment, whereas postnatal epigenetic programming (PEP) importantly depends upon nutritional support provided through the GI tract. Cysteine absorption from the GI tract is a crucial determinant of antioxidant capacity, and systemic deficits of glutathione and cysteine in autism are likely to reflect impaired cysteine absorption. Excitatory amino acid transporter 3 (EAAT3) provides cysteine uptake for GI epithelial, neuronal, and immune cells, and its activity is decreased during oxidative stress. Based upon these observations, we propose that neurodevelopmental, GI, and immune aspects of autism each reflect manifestations of inadequate antioxidant capacity, secondary to impaired cysteine uptake by the GI tract. Genetic and environmental factors that adversely affect antioxidant capacity can disrupt PrEP and/or PEP, increasing vulnerability to autism.
Lien vers le texte intégral (Open Access ou abonnement)
17. Yanagi K, Kaname T, Wakui K, Hashimoto O, Fukushima Y, Naritomi K. {{Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder}}. {Autism Res Treat}. 2012; 2012: 724072.
Mutations in the X-linked genes neuroligin 3 (NLGN3) and neuroligin 4X (NLGN4X) were first implicated in the pathogenesis of X-linked autism in Swedish families. However, reports of mutations in these genes in autism spectrum disorder (ASD) patients from various ethnic backgrounds present conflicting results regarding the etiology of ASD, possibly because of genetic heterogeneity and/or differences in their ethnic background. Additional mutation screening study on another ethnic background could help to clarify the relevance of the genes to ASD. We scanned the entire coding regions of NLGN3 and NLGN4X in 62 Japanese patients with ASD by polymerase chain reaction-high-resolution melting curve and direct sequencing analyses. Four synonymous substitutions, one in NLGN3 and three in NLGN4X, were identified in four of the 62 patients. These substitutions were not present in 278 control X-chromosomes from unrelated Japanese individuals and were not registered in the database of Single Nucleotide Polymorphisms build 132 or in the Japanese Single Nucleotide Polymorphisms database, indicating that they were novel and specific to ASD. Though further analysis is necessary to determine the physiological and clinical importance of such substitutions, the possibility of the relevance of both synonymous and nonsynonymous substitutions with the etiology of ASD should be considered.
