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1.  The relationship of theory of mind and executive functions to symptom type and severity in children with autism 
Development and psychopathology  2004;16(1):137-155.
Although neurocognitive impairments in theory of mind and in executive functions have both been hypothesized to play a causal role in autism, there has been little research investigating the explanatory power of these impairments with regard to autistic symptomatology. The present study examined the degree to which individual differences in theory of mind and executive functions could explain variations in the severity of autism symptoms. Participants included 31 verbal, school-aged children with autism who were administered a battery of tests assessing the understanding of mental states (knowledge and false belief ) and executive control skills (working memory, combined working memory and inhibitory control, and planning) and who were behaviorally evaluated for autism severity in the three core symptom domains. Whereas theory of mind and executive control abilities explained the significant variance beyond that accounted for by language level in communication symptoms, neither explained the significant variance in reciprocal social interaction or repetitive behaviors symptoms. These findings are discussed in terms of a proposed distinction between higher level, cognitive–linguistic aspects of theory of mind and related executive control skills, and more fundamental social–perceptual processes involved in the apprehension of mental state information conveyed through eyes, faces, and voices, which may be more closely linked to autistic deficits in social reciprocity.
doi:10.1017/S095457940404444X
PMCID: PMC1201455  PMID: 15115068
2.  The biopsychosocial processes in autism spectrum disorder 
Background
Autism is a disorder characterized by pervasive social and communicative impairments, repetitive and stereotyped behaviors and restricted interests. Its causes and effects have been researched from various neurocognitive theoretical perspectives and with the aid of neuroimaging technology. We aimed to describe biopsychosocial processes characteristic of the Autism Spectrum Disorders.
Method
Literature review using Medline and Scopus databases published between 2001 and 2011, with the keywords "autism", "theory of mind", "executive functions", "central coherence" and “fMRI”.
Results
The studies found were plotted and organized into tables and an explanatory diagram of the main findings was produced.
Conclusions
The most popular neurocognitive theories are still unable to fully explain the characteristics of the complications that autistic spectrum disorder causes to the quality of life of individuals living with autism. The association of clinical research and neuroimaging may contribute to a better understanding of the functioning of the brain affected by the disorder.
doi:10.1186/1755-7682-6-22
PMCID: PMC3671139  PMID: 23656636
Autistic disorder; Mental disorder; Central coherence; fMRI
3.  Adult psychosocial outcomes of children with specific language impairment, pragmatic language impairment and autism 
Background:
The few studies that have tracked children with developmental language disorder to adulthood have found that these individuals experience considerable difficulties with psychosocial adjustment (for example, academic, vocational and social aptitude). Evidence that some children also develop autistic symptomatology over time has raised suggestions that developmental language disorder may be a high-functioning form of an autism spectrum disorder (ASD). It is not yet clear whether these outcomes vary between individuals with different subtypes of language impairment.
Aims:
To compare the adult psychosocial outcomes of children with specific language impairment (SLI), pragmatic language impairment (PLI) and ASD.
Methods & Procedures:
All participants took part in research as children. In total, there were 19 young adults with a childhood history of Specific Language Impairment (M age=24;8), seven with PLI (M age=22;3), 11 with high functioning ASD (M age=21;9) and 12 adults with no history of developmental disorder (Typical; n=12; M age=21;6). At follow-up, participants and their parents were interviewed to elicit information about psychosocial outcomes.
Outcomes & Results:
Participants in the SLI group were most likely to pursue vocational training and work in jobs not requiring a high level of language/literacy ability. The PLI group tended to obtain higher levels of education and work in ‘skilled’ professions. The ASD participants had lower levels of independence and more difficulty obtaining employment than the PLI and SLI participants. All groups had problems establishing social relationships, but these difficulties were most prominent in the PLI and ASD groups. A small number of participants in each group were found to experience affective disturbances. The PLI and SLI groups showed lower levels of autistic symptomatology than the ASD group.
Conclusions & Implications:
The between-group differences in autistic symptomatology provide further evidence that SLI, PLI, and ASD are related disorders that vary along qualitative dimensions of language structure, language use and circumscribed interests. Childhood diagnosis showed some relation to adult psychosocial outcome. However, within-group variation highlights the importance of evaluating children on a case-by-case basis.
doi:10.1080/13682820802708098
PMCID: PMC2835860  PMID: 19340628
specific language impairment; pragmatic language impairment; autism; longitudinal; psychosocial; outcome
4.  Adult psychosocial outcomes of children with specific language impairment, pragmatic language impairment and autism 
Background: The few studies that have tracked children with developmental language disorder to adulthood have found that these individuals experience considerable difficulties with psychosocial adjustment (for example, academic, vocational and social aptitude). Evidence that some children also develop autistic symptomatology over time has raised suggestions that developmental language disorder may be a high-functioning form of an autism spectrum disorder (ASD). It is not yet clear whether these outcomes vary between individuals with different subtypes of language impairment.
Aims: To compare the adult psychosocial outcomes of children with specific language impairment (SLI), pragmatic language impairment (PLI) and ASD.
Methods & Procedures: All participants took part in research as children. In total, there were 19 young adults with a childhood history of Specific Language Impairment (M age = 24;8), seven with PLI (M age = 22;3), 11 with high functioning ASD (M age = 21;9) and 12 adults with no history of developmental disorder (Typical; n = 12; M age = 21;6). At follow-up, participants and their parents were interviewed to elicit information about psychosocial outcomes.
Outcomes & Results: Participants in the SLI group were most likely to pursue vocational training and work in jobs not requiring a high level of language/literacy ability. The PLI group tended to obtain higher levels of education and work in ‘skilled’ professions. The ASD participants had lower levels of independence and more difficulty obtaining employment than the PLI and SLI participants. All groups had problems establishing social relationships, but these difficulties were most prominent in the PLI and ASD groups. A small number of participants in each group were found to experience affective disturbances. The PLI and SLI groups showed lower levels of autistic symptomatology than the ASD group.
Conclusions & Implications: The between-group differences in autistic symptomatology provide further evidence that SLI, PLI, and ASD are related disorders that vary along qualitative dimensions of language structure, language use and circumscribed interests. Childhood diagnosis showed some relation to adult psychosocial outcome. However, within-group variation highlights the importance of evaluating children on a case-by-case basis.
doi:10.1080/13682820802708098
PMCID: PMC2835860  PMID: 19340628
specific language impairment; pragmatic language impairment; autism; longitudinal; psychosocial; outcome
5.  Impaired Error Monitoring and Correction Function in Autism 
Journal of neurotherapy  2010;14(2):79-95.
Introduction
Error monitoring and correction is one of the executive functions and is important for effective goal directed behavior. Deficient executive functioning, including reduced error monitoring ability, is one of the typical features of such neurodevelopmental disorders as autism, probably related to perseverative responding, stereotyped repetitive behaviors, and an inability to accurately monitor ongoing behavior. Our prior studies of behavioral and event-related potential (ERP) measures during performance on visual oddball tasks in high-functioning autistic (HFA) children showed that despite only minor differences in reaction times HFA children committed significantly more errors.
Methods
This study investigated error monitoring in children with autism spectrum disorder (ASD) with response-locked event-related potentials - the Error-related Negativity (ERN) and Error-related Positivity (Pe) recorded at fronto-central sites. The ERN reflects early error detection processes, while the Pe has been associated with later conscious error evaluation and attention re-allocation. Reaction times (RT) in correct trials and post-error slowing in reaction times were measured. In this study fourteen subjects with ASD and 14 age- and IQ- matched controls received a three-category visual oddball task with novel distracters.
Results
ERN had a lower amplitude and longer latency in the ASD group but was localized in the caudal part of anterior cingulate cortex (ACC) in both groups. The Pe component was significantly prolonged in the ASD group but did not reach significance in amplitude differences compared to controls. We found significant post-error slowing in RTs in controls, and post-error acceleration in RTs in the ASD group.
Conclusions
The reduced ERN and altered Pe along with a lack of post-error RT slowing in autism might be interpreted as insensitivity in the detection and monitoring of response errors and a reduced ability of execute corrective actions. This might result in reduced error awareness and failure in adjustment when dealing with situations where erroneous responses may occur. This deficit might be manifested in the perseverative behaviors often seen in individuals with ASD. The results are discussed in terms of a general impairment in self-monitoring and other executive functions underlying behavioral and social disturbances in ASD.
doi:10.1080/10874201003771561
PMCID: PMC2879653  PMID: 20523752
Autism; Executive functions; Error monitoring; Reaction time; Cingulate cortex; oddball task
6.  A Psychological Approach to Understanding the Social and Language Impairments in Autism 
This paper surveys current research on the social and communicative impairments in autism. In diagnostic schemes, the criteria for identifying autism in these domains include overlapping features. One approach to interpreting this overlap is to consider that social and communicative impairments reflect the same underlying cognitive deficit, referred to as the ‘theory of mind’ hypothesis of autism. On this view autism involves primary difficulties in identifying mental states in other people, and in interpreting behavior and action in relation to a person’s mental state. Studies on the relationship between social behavior, communicative functioning, and theory of mind in children with autism are reviewed, emphasizing the connections between these areas of impairment that are central to the definition of the autistic syndrome.
doi:10.1080/09540269974203
PMCID: PMC1350917  PMID: 16467907
7.  Is autism a disease of the cerebellum? An integration of clinical and pre-clinical research 
Autism spectrum disorders are a group of neurodevelopmental disorders characterized by deficits in social skills and communication, stereotyped and repetitive behavior, and a range of deficits in cognitive function. While the etiology of autism is unknown, current research indicates that abnormalities of the cerebellum, now believed to be involved in cognitive function and the prefrontal cortex (PFC), are associated with autism. The current paper proposes that impaired cerebello-cortical circuitry could, at least in part, underlie autistic symptoms. The use of animal models that allow for manipulation of genetic and environmental influences are an effective means of elucidating both distal and proximal etiological factors in autism and their potential impact on cerebello-cortical circuitry. Some existing rodent models of autism, as well as some models not previously applied to the study of the disorder, display cerebellar and behavioral abnormalities that parallel those commonly seen in autistic patients. The novel findings produced from research utilizing rodent models could provide a better understanding of the neurochemical and behavioral impact of changes in cerebello-cortical circuitry in autism.
doi:10.3389/fnsys.2013.00015
PMCID: PMC3650713  PMID: 23717269
autism; cerebellum
8.  Mnesic imbalance: a cognitive theory about autism spectrum disorders 
Autism is characterized by impairments in social interaction, communicative capacity and behavioral flexibility. Some cognitive theories can be useful for finding a relationship between these irregularities and the biological mechanisms that may give rise to this disorder. Among such theories are mentalizing deficit, weak central coherence and executive dysfunction, but none of them has been able to explain all three diagnostic symptoms of autism. These cognitive disorders may be related among themselves by faulty learning, since several research studies have shown that the brains of autistic individuals have abnormalities in the cerebellum, which plays a role in procedural learning. In keeping with this view, one may postulate the possibility that declarative memory replaces faulty procedural memory in some of its functions, which implies making conscious efforts in order to perform actions that are normally automatic. This may disturb cognitive development, resulting in autism symptoms. Furthermore, this mnesic imbalance is probably involved in all autism spectrum disorders. In the present work, this theory is expounded, including preliminary supporting evidence.
doi:10.1186/1744-859X-7-20
PMCID: PMC2577648  PMID: 18925971
9.  The reach-to-grasp movement in children with autism spectrum disorder. 
Autism is associated with a wide and complex array of neurobehavioural symptoms. Examination of the motor system offers a particularly appealing method for studying autism by providing information about this syndrome that is relatively immune to experimental influence. In this article, we considered the relationship between possible movement disturbance and symptoms of autism and introduced an experimental model that may be useful for rehabilitation and diagnostic purposes: the reach-to-grasp movement. Research is reviewed that characterizes kinematically the reach-to-grasp movement in children with autism compared with age-matched 'controls'. Unlike the age-matched children, autistic children showed differences in movement planning and execution, supporting the view that movement disturbances may play a part in the phenomenon of autism.
doi:10.1098/rstb.2002.1205
PMCID: PMC1693116  PMID: 12639336
10.  Neurobehavioral Abnormalities in First-Degree Relatives of Individuals With Autism 
Archives of general psychiatry  2010;67(8):830-840.
Context
Studying sensorimotor and neurocognitive impairments in unaffected family members of individuals with autism may help identify familial pathophysiological mechanisms associated with the disorder.
Objective
To determine whether atypical sensorimotor or neurocognitive characteristics associated with autism are present in first-degree relatives of individuals with autism.
Design
Case-control comparison of neurobehavioral functions.
Setting
University medical center.
Participants
Fifty-seven first-degree relatives of individuals with autism and 40 age-, sex-, and IQ-matched healthy control participants (aged 8–54 years).
Main Outcome Measures
Oculomotor tests of sensorimotor responses (saccades and smooth pursuit); procedural learning and response inhibition; neuropsychological tests of motor, memory, and executive functions; and psychological measures of social behavior, communication skills, and obsessive-compulsive behaviors.
Results
On eye movement testing, family members demonstrated saccadic hypometria, reduced steady-state pursuit gain, and a higher rate of voluntary response inhibition errors relative to controls. They also showed lateralized deficits in procedural learning and open-loop pursuit gain (initial 100 milliseconds of pursuit) and increased variability in the accuracy of large-amplitude saccades that were confined to rightward movements. In neuropsychological studies, only executive functions were impaired relative to those of controls. Family members reported more communication abnormalities and obsessive-compulsive behaviors than controls. Deficits across oculomotor, neuropsychological, and psychological domains were relatively independent from one another.
Conclusions
Family members of individuals with autism demonstrate oculomotor abnormalities implicating pontocerebellar and frontostriatal circuits and left-lateralized alterations of frontotemporal circuitry and striatum. The left-lateralized alterations have not been identified in other neuropsychiatric disorders and are of interest given atypical brain lateralization and language development associated with the disorder. Similar oculomotor deficits have been reported in individuals with autism, suggesting that they may be familial and useful for studies of neurophysiological and genetic mechanisms in autism.
doi:10.1001/archgenpsychiatry.2010.87
PMCID: PMC3145411  PMID: 20679591
11.  Atypical Involvement of Frontostriatal Systems During Sensorimotor Control in Autism 
Psychiatry research  2007;156(2):117-127.
Autism is a neurodevelopmental disorder involving dysmaturation of widely distributed brain systems. Accordingly, behaviors that depend on distributed systems, such as higher level cognition and sensorimotor control, are compromised in the disorder. The current study investigated alterations in neural systems underlying sensorimotor disturbances in autism. An fMRI investigation was conducted using saccadic and pursuit eye movement paradigms with 13 high-functioning individuals with autism and 14 age- and IQ- matched typically developing individuals. Individuals with autism had reduced activation in cortical eye fields and cerebellar hemispheres during both eye movement tasks. When executing visually guided saccades, individuals with autism had greater activation bilaterally in a frontostriatal circuit including dorsolateral prefrontal cortex, caudate nucleus, medial thalamus, anterior and posterior cingulate cortex, and right dentate nucleus. The increased activation in prefrontal-striatal-thalamocortical circuitry during visually guided saccades indicates that systems typically dedicated to cognitive control may need to compensate for disturbances in lower-level sensorimotor systems. Reduced activation throughout visual sensorimotor systems may contribute to saccadic and pursuit disturbances that have been reported in autism. These findings document that neurodevelopmental disturbances in autism affect widely distributed brain systems beyond those mediating language and social cognition.
doi:10.1016/j.pscychresns.2007.03.008
PMCID: PMC2180158  PMID: 17913474
Autism; Neuroimaging; Eye Movement; Attention; Frontostriatal Systems
12.  Relationships among Repetitive Behaviors, Sensory Features, and Executive Functions in High Functioning Autism 
This study examined the relationship between repetitive behaviors and sensory processing issues in school-aged children with high functioning autism (HFA). Children with HFA (N = 61) were compared to healthy, typical controls (N = 64) to determine the relationship between these behavioral classes and to examine whether executive dysfunction explained any relationship between the variables. Particular types of repetitive behavior (i.e., stereotypy and compulsions) were related to sensory features in autism; however, executive deficits were only correlated with repetitive behavior. This finding suggests that executive dysfunction is not the shared neurocognitive mechanism that accounts for the relationship between restricted, repetitive behaviors and aberrant sensory features in HFA. Group status, younger chronological age, presence of sensory processing issues, and difficulties with behavior regulation predicted the presence of repetitive behaviors in the HFA group.
doi:10.1016/j.rasd.2009.05.003
PMCID: PMC3071047  PMID: 21475640
Autism Spectrum Disorder; Repetitive Behaviors; Sensory Features; Executive Function
13.  Examination of Association to Autism of Common Genetic Variation in Genes Related to Dopamine 
Autism is a severe neurodevelopmental disorder characterized by a triad of complications. Autistic individuals display significant disturbances in language and reciprocal social interactions, combined with repetitive and stereotypic behaviors. Prevalence studies suggest that autism is more common than originally believed, with recent estimates citing a rate of one in 150. Although this genomic approach has yielded multiple suggestive regions, a specific risk locus has yet to be identified and widely confirmed. Because many etiologies have been suggested for this complex syndrome, we hypothesize that one of the difficulties in identifying autism genes is that multiple genetic variants may be required to significantly increase the risk of developing autism. Thus we took the alternative approach of examining 14 prominent dopamine pathway candidate genes for detailed study by genotyping 28 SNPs. Although we did observe a nominally significant association for rs2239535 (p=.008) on chromosome 20, single locus analysis did not reveal any results as significant after correction for multiple comparisons. No significant interaction was identified when Multifactor Dimensionality Reduction (MDR) was employed to test specifically for multilocus effects. Although genome-wide linkage scans in autism have provided support for linkage to various loci along the dopamine pathway, our study does not provide strong evidence of linkage or association to any specific gene or combination of genes within the pathway. These results demonstrate that common genetic variation within the tested genes located within this pathway at most play a minor to moderate role in overall autism pathogenesis.
doi:10.1002/aur.55
PMCID: PMC2947794  PMID: 19360691
Autism; Dopamine; SNPs; linkage; association
14.  Adult reversal of cognitive phenotypes in neurodevelopmental disorders 
Recent findings in mice suggest that it is possible to reverse certain neurodevelopmental disorders in adults. Changes in development, previously thought to be irreparable in adults, were believed to underlie the neurological and psychiatric phenotypes of a range of common mental health problems with a clear developmental component. As a consequence, most researchers have focused their efforts on understanding the molecular and cellular processes that alter development with the hope that early intervention could prevent the emergent pathology. Unexpectedly, several different animal model studies published recently, including animal models of autism, suggest that it may be possible to reverse neurodevelopmental disorders in adults: Addressing the underlying molecular and cellular deficits in adults could in several cases dramatically improve the neurocognitive phenotypes in these animal models. The findings reviewed here provide hope to millions of individuals afflicted with a wide range of neurodevelopmental disorders, including autism, since they suggest that it may be possible to treat or even cure them in adults.
doi:10.1007/s11689-009-9018-7
PMCID: PMC2755132  PMID: 19812701
Neurodevelopmental disorders; Autism; Animal models; Rescue; Treatment
15.  Adult reversal of cognitive phenotypes in neurodevelopmental disorders 
Recent findings in mice suggest that it is possible to reverse certain neurodevelopmental disorders in adults. Changes in development, previously thought to be irreparable in adults, were believed to underlie the neurological and psychiatric phenotypes of a range of common mental health problems with a clear developmental component. As a consequence, most researchers have focused their efforts on understanding the molecular and cellular processes that alter development with the hope that early intervention could prevent the emergent pathology. Unexpectedly, several different animal model studies published recently, including animal models of autism, suggest that it may be possible to reverse neurodevelopmental disorders in adults: Addressing the underlying molecular and cellular deficits in adults could in several cases dramatically improve the neurocognitive phenotypes in these animal models. The findings reviewed here provide hope to millions of individuals afflicted with a wide range of neurodevelopmental disorders, including autism, since they suggest that it may be possible to treat or even cure them in adults.
doi:10.1007/s11689-009-9018-7
PMCID: PMC2755132  PMID: 19812701
Neurodevelopmental disorders; Autism; Animal models; Rescue; Treatment
16.  The expanding genomic landscape of autism: discovering the ‘forest’ beyond the ‘trees’ 
Future neurology  2013;8(1):29-42.
Autism spectrum disorders are neurodevelopmental disorders characterized by significant deficits in reciprocal social interactions, impaired communication and restricted, repetitive behaviors. As autism spectrum disorders are among the most heritable of neuropsychiatric disorders, much of autism research has focused on the search for genetic variants in protein-coding genes (i.e., the ‘trees’). However, no single gene can account for more than 1% of the cases of autism spectrum disorders. Yet, genome-wide association studies have often identified statistically significant associations of genetic variations in regions of DNA that do not code for proteins (i.e., intergenic regions). There is increasing evidence that such noncoding regions are actively transcribed and may participate in the regulation of genes, including genes on different chromosomes. This article summarizes evidence that suggests that the research spotlight needs to be expanded to encompass far-reaching gene-regulatory mechanisms that include a variety of epigenetic modifications, as well as noncoding RNA (i.e., the ‘forest’). Given that noncoding RNA represents over 90% of the transcripts in most cells, we may be observing just the ‘tip of the iceberg’ or the ‘edge of the forest’ in the genomic landscape of autism.
doi:10.2217/fnl.12.83
PMCID: PMC3637978  PMID: 23637569
autism spectrum disorder phenotypes; ‘dark matter’ RNA; epigenetics; future therapeutic options; gene–environment interaction; genetics; new research paradigm
17.  Adaptive Behavior Ratings Correlate with Symptomatology and IQ Among Individuals with High-Functioning Autism Spectrum Disorders 
Caregiver report on the Adaptive Behavior Assessment System-II (ABAS) for 40 high-functioning individuals with autism spectrum disorders (ASD) and 30 typically developing (TD) individuals matched for age, IQ, and sex ratio revealed global adaptive behavior deficits in ASD, with social skills impairments particularly prominent. Within the ASD group, adaptive communication skills were positively related to IQ while global adaptive functioning was negatively associated with autism symptomatology. Autistic behavior ratings related negatively to ABAS scores in the TD but not the ASD group. This investigation demonstrates: the utility of an adaptive functioning checklist for capturing impairments, even in high-functioning individuals with ASD; and that a relationship between social abilities and autism exists independently of intelligence.
doi:10.1007/s10803-009-0911-4
PMCID: PMC3316121  PMID: 19949846
autism; adaptive behavior; social skills; IQ; symptomatology; Asperger’s syndrome
18.  Autism and exergaming: effects on repetitive behaviors and cognition 
Autism is a neurodevelopmental disorder that leads to impairment in social skills and delay in language development, and results in repetitive behaviors and restricted interests that impede academic and social involvement. Physical exercise has been shown to decrease repetitive behaviors in autistic children and improve cognitive function across the life-span. Exergaming combines physical and mental exercise simultaneously by linking physical activity movements to video game control and may yield better compliance with exercise. In this investigation, two pilot studies explored the potential behavioral and cognitive benefits of exergaming. In Pilot I, twelve children with autism spectrum disorders completed a control task and an acute bout of Dance Dance Revolution (DDR); in Pilot II, ten additional youths completed an acute bout of cyber cycling. Repetitive behaviors and executive function were measured before and after each activity. Repetitive behaviors significantly decreased, while performance on Digits Backwards improved following the exergaming conditions compared with the control condition. Additional research is needed to replicate these findings, and to explore the application of exergaming for the management of behavioral disturbance and to increase cognitive control in children on the autism spectrum.
doi:10.2147/PRBM.S24016
PMCID: PMC3218790  PMID: 22114543
autism; repetitive behaviors; exergaming; exercise; executive function
19.  Dorso-Lateral Prefrontal Cortex MRI Measurements and Cognitive Performance in Autism 
Journal of child neurology  2010;25(7):856-863.
This study examined the relationships between volumetric measurements of frontal lobe structures and performance on executive function tasks in individuals with autism. MRI scans were obtained from 38 individuals with autism and 40 matched controls between the ages of 8 and 45 years. Executive function was assessed using neuropsychological measures including the Wisconsin Card Sorting Test and Tower of Hanoi. Differences in performance on the neuropsychological tests were found between the two groups. However, no differences in dorsolateral prefrontal cortex volumes were observed between groups. No correlations between volumetric measurements and performance on the neuropsychological tests were found. Findings from this study suggest that executive function deficits observed in autism are related to functional but not anatomical abnormalities of the frontal lobe. The absence of correlations suggests that executive dysfunction is not the result of focal brain alterations but, rather, is the result of a distributed neural network dysfunction.
doi:10.1177/0883073809351313
PMCID: PMC3428128  PMID: 20097663
autism; frontal lobe; dorsolateral prefrontal cortex; magnetic resonance imaging; executive function
20.  Diminished Sensitivity to Sad Facial Expressions in High Functioning Autism Spectrum Disorders is Associated with Symptomatology and Adaptive Functioning 
Prior studies implicate facial emotion recognition (FER) difficulties among individuals with autism spectrum disorders (ASD); however, many investigations focus on FER accuracy alone and few examine ecological validity through links with everyday functioning. We compared FER accuracy and perceptual sensitivity (from neutral to full expression) between 42 adolescents with high functioning (IQ>80) ASD and 31 typically developing adolescents (matched on age, IQ, sex ratio) across six basic emotions and examined links between FER and symptomatology/adaptive functioning within the ASD group. Adolescents with ASD required more intense facial expressions for accurate emotion identification. Controlling for this overall group difference revealed particularly diminished sensitivity to sad facial expressions in ASD, which was uniquely correlated with ratings of autism-related behavior and adaptive functioning.
doi:10.1007/s10803-010-1170-0
PMCID: PMC3448486  PMID: 21347615
autism; emotion; face; symptomatology; adaptive functioning
21.  Cognitive profiles and social-communicative functioning in children with autism spectrum disorder 
Background
Whether there is an unusual degree of unevenness in the cognitive abilities of children with autism spectrum disorder (ASD) and whether different cognitive profiles among children with ASD might index etiologically significant subgroups are questions of continued debate in autism research.
Method
The Differential Ability Scales (DAS) and the Autism Diagnostic Observation Schedule (ADOS) were used to examine profiles of verbal and nonverbal abilities and their relationship to autistic symptomatology in 120 relatively high-functioning children with ADI-confirmed diagnoses of autism.
Results
Discrepancies between verbal and nonverbal ability scores occurred at a significantly higher rate than in the DAS normative sample (30%) in both a younger group of 73 children (56%) with a mean age of 5;5 and an older group of 47 children (62%) with a mean age of 8;11. Discrepancies were mainly in favor of nonverbal ability in the younger group, but occurred equally in favor of verbal and nonverbal abilities in the older group. Comparison of the two age groups suggested a growing dissociation between verbal and nonverbal (and particularly visual processing) skills with age. In the older group, children with discrepantly higher nonverbal abilities demonstrated significantly greater impairment in social functioning, as measured on the ADOS, independent of absolute level of verbal and overall ability.
Conclusions
These findings demonstrate a high rate of uneven cognitive development in children with ASD. Indications of a dissociation between verbal and visual-perceptual skills among the older children, and the specific association of discrepantly high nonverbal skills with increased social symptoms suggest that the nonverbal > verbal profile may index an etiologically significant subtype of autism.
PMCID: PMC1201493  PMID: 12236615
Autistic disorder; behavioral phenotypes; cognition; individual differences; intelligence; symptomatology; ADI-R: Autism Diagnostic Interview - Revised; ADOS: Autism Diagnostic Observation Schedule; ASD: autism spectrum disorder; DAS: Differential Ability Scales; GCA: General Conceptual Ability; NV: Nonverbal; PDDNOS: Pervasive Developmental Disorder Not Otherwise Specified; V: Verbal
22.  ACADEMIC OUTCOMES IN CHILDHOOD-ONSET SYSTEMIC LUPUS ERYTHEMATOSUS 
Arthritis care & research  2012;64(8):1167-1174.
Objective
To explore academic outcomes in childhood-onset systemic lupus erythematosus (cSLE) and their relationship to variables such as demographic and socioeconomic status, neurocognitive functioning, behavioral/emotional adjustment, and cSLE disease status.
Methods
Forty pairs of children diagnosed with cSLE and healthy best-friend controls were rated by parents on a standardized scale of school competence. Information about participants’ demographic and socioeconomic status was obtained, along with measures of cSLE disease activity and damage. All participants received formal neurocognitive testing and were also rated on standardized scales of behavioral/emotional adjustment and executive functioning.
Results
Compared to healthy controls, school competence was rated as lower in the cSLE group, although the groups did not differ significantly on indices of cognitive, behavioral, emotional, or executive functioning. School competence ratings were correlated with reading and mathematics achievement test scores in both groups, and with ratings of mental self-regulation in the cSLE group. School competence ratings were correlated with measures of cSLE disease activity and treatment intensity.
Conclusion
cSLE is associated with inferior parent-rated academic outcomes compared to those noted in demographically-matched peers, despite similar neurocognitive function. The adverse academic outcomes which distinguish children with cSLE from their demographically-matched peers appear to be mediated by SLE disease activity and treatment.
doi:10.1002/acr.21681
PMCID: PMC3409290  PMID: 22807373
SLE; Children; cognition; NPSLE
23.  Communication, Interventions, and Scientific Advances in Autism: A Commentary 
Physiology & behavior  2010;100(3):268-276.
Autism spectrum disorders (ASD) affect approximately 1 in 150 children across the U.S., and are characterized by abnormal social actions, language difficulties, repetitive or restrictive behaviors, and special interests. ASD include autism (autistic disorder), Asperger syndrome, and Pervasive Developmental Disorder not otherwise specified (PDD-NOS or atypical autism). High-functioning individuals may communicate with moderate-to-high language skills, although difficulties in social skills may result in communication deficits. Low-functioning individuals may have severe deficiencies in language, resulting in poor communication between the individual and others. Behavioral intervention programs have been developed for ASD, and are frequently adjusted to accommodate specific individual needs. Many of these programs are school-based and aim to support the child in the development of their skills, for use outside the classroom with family and friends. Strides are being made in understanding the factors contributing to the development of ASD, particularly the genetic contributions that may underlie these disorders. Mutant mouse models provide powerful research tools to investigate the genetic factors associated with ASD and its co-morbid disorders. In support, the BTBR T+tf/J mouse strain incorporates ASD-like social and communication deficits and high levels of repetitive behaviors. This commentary briefly reviews the reciprocal relationship between observations made during evidence-based behavioral interventions of high- versus low-functioning children with ASD and the accumulating body of research in autism, including animal studies and basic research models. This reciprocity is one of the hallmarks of the scientific method, such that research may inform behavioral treatments, and observations made during treatment may inform subsequent research.
doi:10.1016/j.physbeh.2010.01.003
PMCID: PMC2860058  PMID: 20093134
autism spectrum disorders; social; communication; language; gender differences; behavior modeling; Picture Exchange Communication System; mice; genetics; BTBR; Center for Autism and Related Disabilities; education programs; translational research
24.  Brain Region–Specific Decrease in the Activity and Expression of Protein Kinase A in the Frontal Cortex of Regressive Autism 
PLoS ONE  2011;6(8):e23751.
Autism is a severe neurodevelopmental disorder that is characterized by impaired language, communication, and social skills. In regressive autism, affected children first show signs of normal social and language development but eventually lose these skills and develop autistic behavior. Protein kinases are essential in G-protein-coupled, receptor-mediated signal transduction and are involved in neuronal functions, gene expression, memory, and cell differentiation. We studied the activity and expression of protein kinase A (PKA), a cyclic AMP–dependent protein kinase, in postmortem brain tissue samples from the frontal, temporal, parietal, and occipital cortices, and the cerebellum of individuals with regressive autism; autistic subjects without a clinical history of regression; and age-matched developmentally normal control subjects. The activity of PKA and the expression of PKA (C-α), a catalytic subunit of PKA, were significantly decreased in the frontal cortex of individuals with regressive autism compared to control subjects and individuals with non-regressive autism. Such changes were not observed in the cerebellum, or the cortices from the temporal, parietal, and occipital regions of the brain in subjects with regressive autism. In addition, there was no significant difference in PKA activity or expression of PKA (C-α) between non-regressive autism and control groups. These results suggest that regression in autism may be associated, in part, with decreased PKA-mediated phosphorylation of proteins and abnormalities in cellular signaling.
doi:10.1371/journal.pone.0023751
PMCID: PMC3166116  PMID: 21909354
25.  Alteration of astrocytes and Wnt/β-catenin signaling in the frontal cortex of autistic subjects 
Background
Autism is a neurodevelopmental disorder characterized by impairments in social interaction, verbal communication and repetitive behaviors. To date the etiology of this disorder is poorly understood. Studies suggest that astrocytes play critical roles in neural plasticity by detecting neuronal activity and modulating neuronal networks. Recently, a number of studies suggested that an abnormal function of glia/astrocytes may be involved in the development of autism. However, there is yet no direct evidence showing how astrocytes develop in the brain of autistic individuals.
Methods
Study subjects include brain tissue from autistic subjects, BTBR T + tfJ (BTBR) and Neuroligin (NL)-3 knock-down mice. Western blot analysis, Immunohistochemistry and confocal microscopy studies have be used to examine the density and morphology of astrocytes, as well as Wnt and β-catenin protein expression.
Results
In this study, we demonstrate that the astrocytes in autisitcsubjects exhibit significantly reduced branching processes, total branching length and cell body sizes. We also detected an astrocytosis in the frontal cortex of autistic subjects. In addition, we found that the astrocytes in the brain of an NL3 knockdown mouse exhibited similar alterations to what we found in the autistic brain. Furthermore, we detected that both Wnt and β-catenin proteins are decreased in the frontal cortex of autistic subjects. Wnt/β-catenin pathway has been suggested to be involved in the regulation of astrocyte development.
Conclusions
Our findings imply that defects in astrocytes could impair neuronal plasticity and partially contribute to the development of autistic-like behaviors in both humans and mice. The alteration of Wnt/β-catenin pathway in the brain of autistic subjects may contribute to the changes of astrocytes.
doi:10.1186/1742-2094-9-223
PMCID: PMC3544729  PMID: 22999633
Autism; Astrocytes; Morphology; Wnt/β-catenin pathway; Neural plasticity

Results 1-25 (838187)