Groen WB, Rommelse N, de Wit T
… +4 more, Zwiers MP, van Meerendonck D, van der Gaag RJ, Buitelaar JK
Autism Res Treat
· 2012 · PMID 22937259
·
Full text
This study of gaze patterns in very young children with autism and their parents included 23 cases (with 16 fathers and 19 mothers) and 46 controls (with 14 fathers and 28 mothers). Children (mean age 3.3 ± 1.5 years) wi...This study of gaze patterns in very young children with autism and their parents included 23 cases (with 16 fathers and 19 mothers) and 46 controls (with 14 fathers and 28 mothers). Children (mean age 3.3 ± 1.5 years) with autism met DSM-IV and ADOS-G diagnostic criteria. The participants' gaze patterns were recorded while they viewed four simple movies that did not feature people. In children, severity of autism is related to spending more time watching irrelevant regions in one of the four movies. The mothers of children with autism showed an atypical pattern for three movies, whereas the fathers of children with autism did not show an atypical gaze pattern. The gaze pattern of the mothers was positively correlated with that of their children. The atypical viewing pattern of autistic individuals appears not to be restricted to people and social situations but is also seen in other situations, suggesting that there is a perceptual broad autism phenotype.
Autism Res Treat
· 2012 · PMID 22937258
·
Full text
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder estimated to affect 1 in 110 children in the U.S., yet the pathology of this disorder is not fully understood. Abnormal levels of several growth factors hav...Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder estimated to affect 1 in 110 children in the U.S., yet the pathology of this disorder is not fully understood. Abnormal levels of several growth factors have been demonstrated in adults with ASD, including epidermal growth factor (EGF) and hepatocyte growth factor (HGF). Both of these growth factors serve important roles in neurodevelopment and immune function. In this study, concentrations of EGF and HGF were assessed in the plasma of 49 children with ASD aged 2-4 years old and 31 typically developing controls of a similar age as part of the Autism Phenome Project (APP). Levels of EGF were significantly reduced in the ASD group compared to typically developing controls (P = 0.003). There were no significant differences in HGF levels in young children with ASD and typically developing controls. EGF plays an important role in regulating neural growth, proliferation, differentiation and migration, and reduced levels of this molecule may negatively impact neurodevelopment in young children with ASD.
Yanagi K, Kaname T, Wakui K
… +3 more, Hashimoto O, Fukushima Y, Naritomi K
Autism Res Treat
· 2012 · PMID 22934180
·
Full text
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 spe...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.
Gabriels RL, Agnew JA, Beresford C
… +3 more, Morrow MA, Mesibov G, Wamboldt M
Autism Res Treat
· 2012 · PMID 22934179
·
Full text
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 ho...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.
Autism Res Treat
· 2012 · PMID 22934178
·
Full text
Research has shown that parent education programs can address some of the distinct challenges that parents of youth with autism spectrum disorders (ASDs) encounter. This study examined the effectiveness of the Social Com...Research has shown that parent education programs can address some of the distinct challenges that parents of youth with autism spectrum disorders (ASDs) encounter. This study examined the effectiveness of the Social Competence Intervention for Parents (SCI-P), a parent education program, administered in conjunction with a social competence intervention that targeted youth with ASD ages 11-14 (SCI-A). Using a quasi-experimental pre-post design, parents were assigned to either the SCI-P group (n = 16) or to the waitlist comparison group (n = 10). Analyses of covariance (ANCOVAs) revealed a significant effect for parent education participation such that SCI-P participants experienced significantly greater reductions in levels of stress and a trend for increases in parenting sense of competence from pre- to post-intervention. Moreover, parents in the SCI-P group reported high satisfaction with the program. These findings suggest that parent education can result in positive outcomes for parents' well being.
Pini G, Scusa MF, Congiu L
… +9 more, Benincasa A, Morescalchi P, Bottiglioni I, Di Marco P, Borelli P, Bonuccelli U, Della-Chiesa A, Prina-Mello A, Tropea D
Autism Res Treat
· 2012 · PMID 22934177
·
Full text
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 pr...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.
Autism Res Treat
· 2012 · PMID 22934176
·
Full text
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 teache...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.
Autism Res Treat
· 2012 · PMID 22934175
·
Full text
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 u...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.
Autism Res Treat
· 2012 · PMID 22934174
·
Full text
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...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.
Autism Res Treat
· 2012 · PMID 22934173
·
Full text
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 address...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.
Vasa RA, Anderson C, Marvin AR
… +5 more, Rosenberg RE, Law JK, Thorn J, Sarphare G, Law PA
Autism Res Treat
· 2012 · PMID 22934172
·
Full text
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 spe...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.
Autism Res Treat
· 2012 · PMID 22934171
·
Full text
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...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.
Butler MG, Youngs EL, Roberts JL
… +1 more, Hellings JA
Autism Res Treat
· 2012 · PMID 22934170
·
Full text
Autism spectrum disorders (ASDs) are neurobehavioral disorders characterized by abnormalities in three behavioral domains including social interaction, impaired communication, and repetitive stereotypic behaviors. ASD af...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.
Waly MI, Hornig M, Trivedi M
… +4 more, Hodgson N, Kini R, Ohta A, Deth R
Autism Res Treat
· 2012 · PMID 22934169
·
Full text
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...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.
Autism Res Treat
· 2012 · PMID 22934168
·
Full text
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." Re...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.
Indah Winarni T, Chonchaiya W, Adams E
… +5 more, Au J, Mu Y, Rivera SM, Nguyen DV, Hagerman RJ
Autism Res Treat
· 2012 · PMID 22934167
·
Full text
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 childr...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.
Rose S, Melnyk S, Trusty TA
… +5 more, Pavliv O, Seidel L, Li J, Nick T, James SJ
Autism Res Treat
· 2012 · PMID 22928106
·
Full text
The modulation of the redox microenvironment is an important regulator of immune cell activation and proliferation. To investigate immune cell redox status in autism we quantified the intracellular glutathione redox coup...The modulation of the redox microenvironment is an important regulator of immune cell activation and proliferation. To investigate immune cell redox status in autism we quantified the intracellular glutathione redox couple (GSH/GSSG) in resting peripheral blood mononuclear cells (PBMCs), activated monocytes and CD4 T cells and the extracellular cysteine/cystine redox couple in the plasma from 43 children with autism and 41 age-matched control children. Resting PBMCs and activated monocytes from children with autism exhibited significantly higher oxidized glutathione (GSSG) and percent oxidized glutathione equivalents and decreased glutathione redox status (GSH/GSSG). In activated CD4 T cells from children with autism, the percent oxidized glutathione equivalents were similarly increased, and GSH and GSH/GSSG were decreased. In the plasma, both glutathione and cysteine redox ratios were decreased in autistic compared to control children. Consistent with decreased intracellular and extracellular redox status, generation of free radicals was significantly elevated in lymphocytes from the autistic children. These data indicate primary immune cells from autistic children have a more oxidized intracellular and extracellular microenvironment and a deficit in glutathione-mediated redox/antioxidant capacity compared to control children. These results suggest that the loss of glutathione redox homeostasis and chronic oxidative stress may contribute to immune dysregulation in autism.
Autism Res Treat
· 2012 · PMID 22928105
·
Full text
The human leukocyte antigen (HLA) genes on chromosome 6 are instrumental in many innate and adaptive immune responses. The HLA genes/haplotypes can also be involved in immune dysfunction and autoimmune diseases. It is no...The human leukocyte antigen (HLA) genes on chromosome 6 are instrumental in many innate and adaptive immune responses. The HLA genes/haplotypes can also be involved in immune dysfunction and autoimmune diseases. It is now becoming apparent that many of the non-antigen-presenting HLA genes make significant contributions to autoimmune diseases. Interestingly, it has been reported that autism subjects often have associations with HLA genes/haplotypes, suggesting an underlying dysregulation of the immune system mediated by HLA genes. Genetic studies have only succeeded in identifying autism-causing genes in a small number of subjects suggesting that the genome has not been adequately interrogated. Close examination of the HLA region in autism has been relatively ignored, largely due to extraordinary genetic complexity. It is our proposition that genetic polymorphisms in the HLA region, especially in the non-antigen-presenting regions, may be important in the etiology of autism in certain subjects.
Autism Res Treat
· 2012 · PMID 22928104
·
Full text
The purpose of this study was to explore the experiences of siblings of individuals with autism spectrum disorders (ASDs) and identify their self-reported support needs. We conducted in-person semi-structured interviews...The purpose of this study was to explore the experiences of siblings of individuals with autism spectrum disorders (ASDs) and identify their self-reported support needs. We conducted in-person semi-structured interviews with 12 siblings aged 7 to 15 of children aged 6 to 15 with ASDs. Employing a qualitative collective case study research method, we conducted cross-case analyses to address our research questions. Three major themes emerged: (a) descriptions of the sibling subsystem (b) cohesion between and among the siblings, and (c) adaptability of the participant siblings to having family members with ASDs. Discussion of these findings and recommendations for future research contributes to the existing literature on siblings of children with disabilities.
Autism Res Treat
· 2012 · PMID 22928103
·
Full text
Several lines of evidence support the view that autism is a typical member of a large family of immune-related, noninfectious, chronic diseases associated with postindustrial society. This family of diseases includes a w...Several lines of evidence support the view that autism is a typical member of a large family of immune-related, noninfectious, chronic diseases associated with postindustrial society. This family of diseases includes a wide range of inflammatory, allergic, and autoimmune diseases and results from consequences of genetic/culture mismatches which profoundly destabilize the immune system. Principle among these consequences is depletion of important components, particularly helminths, from the ecosystem of the human body, the human biome. Autism shares a wide range of features in common with this family of diseases, including the contribution of genetics/epigenetics, the identification of disease-inducing triggers, the apparent role of immunity in pathogenesis, high prevalence, complex etiologies and manifestations, and potentially some aspects of epidemiology. Fortunately, using available resources and technology, modern medicine has the potential to effectively reconstitute the human biome, thus treating or even avoiding altogether the consequences of genetic/cultural mismatches which underpin this entire family of disease. Thus, if indeed autism is an epidemic of postindustrial society associated with immune hypersensitivity, we can expect that the disease is readily preventable.