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Translational Psychiatry Jul 2020There is great phenotypic heterogeneity within autism spectrum disorders (ASD), which has led to question their classification into a single diagnostic category. The...
There is great phenotypic heterogeneity within autism spectrum disorders (ASD), which has led to question their classification into a single diagnostic category. The study of the common genetic variation in ASD has suggested a greater contribution of other psychiatric conditions in Asperger syndrome (AS) than in the rest of the DSM-IV ASD subtypes (Non_AS). Here, using available genetic data from previously performed genome-wide association studies (GWAS), we aimed to study the genetic overlap between five of the most related disorders (schizophrenia (SCZ), major depression disorder (MDD), attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorders (OCD) and anxiety (ANX)), and AS, comparing it with the overlap in Non_AS subtypes. A Spanish cohort of autism trios (N = 371) was exome sequenced as part of the Autism Sequencing Consortium (ASC) and 241 trios were extensively characterized to be diagnosed with AS following DSM-IV and Gillberg's criteria (N = 39) or not (N = 202). Following exome imputation, polygenic risk scores (PRS) were calculated for ASD, SCZ, ADHD, MDD, ANX, and OCD (from available summary data from Psychiatric Genomic Consortium (PGC) repository) in the Spanish trios' cohort. By using polygenic transmission disequilibrium test (pTDT), we reported that risk for SCZ (P= 0.008, corrected-P = 0.0409), ADHD (P = 0.021, corrected-P = 0.0301), and MDD (P = 0.039, corrected-P = 0.0501) is over-transmitted to children with AS but not to Non_AS. Indeed, agnostic clustering procedure with deviation values from pTDT tests suggested two differentiated clusters of subjects, one of which is significantly enriched in AS (P = 0.025). Subsequent analysis with S-Predixcan, a recently developed software to predict gene expression from genotype data, revealed a clear pattern of correlation between cortical gene expression in ADHD and AS (P < 0.001) and a similar strong correlation pattern between MDD and AS, but also extendable to another non-brain tissue such as lung (P < 0.001). Altogether, these results support the idea of AS being qualitatively distinct from Non_AS autism and consistently evidence the genetic overlap between AS and ADHD, MDD, or SCZ.
Topics: Asperger Syndrome; Attention Deficit Disorder with Hyperactivity; Autism Spectrum Disorder; Autistic Disorder; Child; Genome-Wide Association Study; Humans; Multifactorial Inheritance
PubMed: 32732888
DOI: 10.1038/s41398-020-00939-7 -
Frontiers in Psychology 2015First described in 1944 by Hans Asperger (1944), it was not before 1994 that Asperger Syndrome (AS) was included in the fourth edition of the Diagnostic and Statistical... (Review)
Review
First described in 1944 by Hans Asperger (1944), it was not before 1994 that Asperger Syndrome (AS) was included in the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders, only to disappear in the Manual's fifth edition in 2013. During its brief existence as a diagnostic entity, AS aroused immense interest and controversy. Similar to patients with autism, AS patients show deficits in social interaction, inappropriate communication skills, and interest restriction, but also display a rich variety of subtle clinical characteristics that for many distinguish AS from autism. However, difficulties operationalising diagnostic criteria and differentiating AS from autism ultimately led to its merging into the unifying category of Autistic Spectrum Disorders. Here we briefly review the short history of this fascinating condition.
PubMed: 26834663
DOI: 10.3389/fpsyg.2015.02024 -
Brain Topography May 2019Motor functions are frequently impaired in Asperger syndrome (AS). In this study, we examined the motor cortex structure and function using navigated transcranial...
Motor functions are frequently impaired in Asperger syndrome (AS). In this study, we examined the motor cortex structure and function using navigated transcranial magnetic stimulation (nTMS) and voxel-based morphometry (VBM) and correlated the results with the box and block test (BBT) of manual dexterity and physical activity in eight boys with AS, aged 8-11 years, and their matched controls. With nTMS, we found less focused cortical representation areas of distinct hand muscles in AS. There was hemispheric asymmetry in the motor maps, silent period duration and active MEP latency in the AS group, but not in controls. Exploratory VBM analysis revealed less gray matter in the left postcentral gyrus, especially in the face area, and less white matter in the precentral area in AS as compared to controls. On the contrary, in the right leg area, subjects with AS displayed an increased density of gray matter. The structural findings of the left hemisphere correlated negatively with BBT score in controls, whereas the structure of the right hemisphere in the AS group correlated positively with motor function as assessed by BBT. These preliminary functional (neurophysiological and behavioral) findings are indicative of asymmetry, and co-existing structural alterations may reflect the motor impairments causing the deteriorations in manual dexterity and other motor functions commonly encountered in children with AS.
Topics: Asperger Syndrome; Brain; Brain Mapping; Child; Evoked Potentials, Motor; Exercise; Face; Functional Laterality; Gray Matter; Hand; Humans; Magnetic Resonance Imaging; Male; Motor Cortex; Muscle, Skeletal; Somatosensory Cortex; Transcranial Magnetic Stimulation; White Matter
PubMed: 30949863
DOI: 10.1007/s10548-019-00704-0 -
Journal of Visualized Experiments : JoVE Jul 2016Several neuroimaging studies have suggested that the low spatial frequency content in an emotional face mainly activates the amygdala, pulvinar, and superior colliculus...
Several neuroimaging studies have suggested that the low spatial frequency content in an emotional face mainly activates the amygdala, pulvinar, and superior colliculus especially with fearful faces(1-3). These regions constitute the limbic structure in non-conscious perception of emotions and modulate cortical activity either directly or indirectly(2). In contrast, the conscious representation of emotions is more pronounced in the anterior cingulate, prefrontal cortex, and somatosensory cortex for directing voluntary attention to details in faces(3,4). Asperger's syndrome (AS)(5,6) represents an atypical mental disturbance that affects sensory, affective and communicative abilities, without interfering with normal linguistic skills and intellectual ability. Several studies have found that functional deficits in the neural circuitry important for facial emotion recognition can partly explain social communication failure in patients with AS(7-9). In order to clarify the interplay between conscious and non-conscious representations of emotional faces in AS, an EEG experimental protocol is designed with two tasks involving emotionality evaluation of either photograph or line-drawing faces. A pilot study is introduced for selecting face stimuli that minimize the differences in reaction times and scores assigned to facial emotions between the pretested patients with AS and IQ/gender-matched healthy controls. Information from the pretested patients was used to develop the scoring system used for the emotionality evaluation. Research into facial emotions and visual stimuli with different spatial frequency contents has reached discrepant findings depending on the demographic characteristics of participants and task demands(2). The experimental protocol is intended to clarify deficits in patients with AS in processing emotional faces when compared with healthy controls by controlling for factors unrelated to recognition of facial emotions, such as task difficulty, IQ and gender.
Topics: Asperger Syndrome; Emotions; Facial Expression; Humans; Magnetic Resonance Imaging; Pilot Projects
PubMed: 27500602
DOI: 10.3791/53962 -
Frontiers in Psychiatry 2014Neurological abnormalities including a variety of subtle deficits such as discrete impairments in sensory integration, motor coordination (MOCO), and sequencing of...
BACKGROUND
Neurological abnormalities including a variety of subtle deficits such as discrete impairments in sensory integration, motor coordination (MOCO), and sequencing of complex motor acts are frequently found in patients with schizophrenia (SZ) and commonly referred to as neurological soft signs (NSS). Asperger-syndrome (AS) is characterized by sensory-motor difficulties as well. However, the question whether the two disorders share a common or a disease-specific pattern of NSS remains unresolved.
METHOD
A total of 78 age- and education-matched participants [26 patients with recent-onset SZ, 26 individuals with AS, and 26 healthy controls (HC)] were recruited for the study. Analyses of covariance (ANCOVAs), with age, years of education, and medication included as covariates, were used to examine group differences on total NSS and the five subscale scores. Discriminant analyses were employed to identify the NSS subscales that maximally discriminate between the three groups.
RESULTS
Significant differences among the three groups were found in NSS total score and on the five NSS subscales. The clinical groups differed significantly in the NSS subscale MOCO. The correct discriminant rate between patients with SZ and individuals with AS was 61.5%. The correct discriminant rate was 92.3% between individuals with AS and HC, and 80.8% between SZ patients and HC, respectively.
CONCLUSION
Our findings provide new evidence for the presence of NSS in AS and lend further support to previously reported difficulties in movement control in this disorder. According to the present results, SZ and AS seem to be characterized by both quantitative and qualitative NSS expression.
PubMed: 25147527
DOI: 10.3389/fpsyt.2014.00091 -
BMJ Case Reports Sep 2017Acute gastric necrosis is a very rare but potentially fatal condition which has been reported in patients with abnormal eating behaviours.We describe the case of a...
Acute gastric necrosis is a very rare but potentially fatal condition which has been reported in patients with abnormal eating behaviours.We describe the case of a 24-year-old female with a background of Asperger's syndrome, who presented with abdominal pain and gross distension. She underwent an emergency exploratory laparotomy and was found to have a massively distended, necrotic stomach. A total gastrectomy was performed with interval reconstruction planned. This case reports the surgical management of a rarely seen condition and highlights the importance of recognising gastric necrosis and its causes, which include patients with abnormal eating behaviours, the majority of whom are young females. This is the first report highlighting gastric necrosis in a patient with Asperger's syndrome and coincides with a growing recognition of the association between eating disorders and the autistic spectrum. It is also a rare example of patient survival following total gastric necrosis with perforation.
Topics: Asperger Syndrome; Diagnosis, Differential; Emergencies; Feeding and Eating Disorders; Female; Gastrectomy; Humans; Necrosis; Stomach; Stomach Rupture; Young Adult
PubMed: 28954749
DOI: 10.1136/bcr-2017-221158 -
Cognitive Neuropsychiatry 2014It is well established that autistic spectrum disorder is linked to difficulties with mentalising, but the ways in which this affects everyday behaviour is less well...
INTRODUCTION
It is well established that autistic spectrum disorder is linked to difficulties with mentalising, but the ways in which this affects everyday behaviour is less well understood. This study explored the nature and extent of difficulties in everyday social functioning in adults with Asperger's syndrome (AS), since increased understanding can enhance the development of more effective intervention strategies.
METHODS
Individuals with AS (n=21) were compared with healthy control participants (n=21) on three tests of social cognition: the Mentalistic Interpretation task, which assesses interpretation of sarcasm and actions; the Social Problem Fluency task, which assesses ability to generate problem solutions; and the Social Problem Resolution task, which assesses judgement in selecting problem solutions.
RESULTS
Comprehension of both sarcastic remarks and actions was impaired in those with AS on the mentalistic interpretation task. Participants with AS showed difficulties in identifying the awkward elements of everyday social scenarios, and they were also impaired in generating problem solutions but not in judging alternative solutions on the social problem fluency and resolution tasks.
CONCLUSIONS
These tasks potentially provide a means of profiling strengths and weaknesses in social processing, which in turn has implications for informing clinical evaluation and training.
Topics: Adult; Asperger Syndrome; Case-Control Studies; Comprehension; Female; Humans; Judgment; Male; Middle Aged; Problem Solving; Social Behavior; Task Performance and Analysis; Young Adult
PubMed: 23875885
DOI: 10.1080/13546805.2013.809659 -
Frontiers in Human Neuroscience 2015This paper is intended to provide a critical overview of experimental and clinical research documenting problems in figurative language processing in atypical... (Review)
Review
This paper is intended to provide a critical overview of experimental and clinical research documenting problems in figurative language processing in atypical populations with a focus on the Autistic Spectrum. Research in the comprehension and processing of figurative language in autism invariably documents problems in this area. The greater paradox is that even at the higher end of the spectrum or in the cases of linguistically talented individuals with Asperger syndrome, where structural language competence is intact, problems with extended language persist. If we assume that figurative and extended uses of language essentially depend on the perception and processing of more concrete core concepts and phenomena, the commonly observed failure in atypical populations to understand figurative language remains a puzzle. Various accounts have been offered to explain this issue, ranging from linking potential failure directly to overall structural language competence (Norbury, 2005; Brock et al., 2008) to right-hemispheric involvement (Gold and Faust, 2010). We argue that the dissociation between structural language and figurative language competence in autism should be sought in more general cognitive mechanisms and traits in the autistic phenotype (e.g., in terms of weak central coherence, Vulchanova et al., 2012b), as well as failure at on-line semantic integration with increased complexity and diversity of the stimuli (Coulson and Van Petten, 2002). This perspective is even more compelling in light of similar problems in a number of conditions, including both acquired (e.g., Aphasia) and developmental disorders (Williams Syndrome). This dissociation argues against a simple continuity view of language interpretation.
PubMed: 25741261
DOI: 10.3389/fnhum.2015.00024 -
PloS One 2014Rooted in the neurodiversity approach, this study provides an overview of the strengths and interests of individuals with Asperger's Syndrome. We interviewed 136...
Rooted in the neurodiversity approach, this study provides an overview of the strengths and interests of individuals with Asperger's Syndrome. We interviewed 136 individuals with Asperger's Syndrome and 155 neurotypical individuals via an online survey with regards to (a) demography, (b) occupational strengths, (c) general self-efficacy, (d) occupational self-efficacy, and (e) the job interest profile according to Holland. The vocational and educational fields of the individuals with Asperger's in the sample are more diverse than and surpass those classical fields stated in research and biographical literature. The comparison of both groups in cross-tables showed that the indicated strengths differ in several areas (ΦCramer = .02-.47), which means that a specific strength profile can be derived, and this profile goes beyond the clinical view of the diagnostic criteria. Individuals with Asperger's indicate lower self-efficacy, both general and occupational. Furthermore, a high concentration of individuals with Asperger's can be found in the areas I (Investigative) and C (Conventional) of Holland's RIASEC model.
Topics: Adolescent; Adult; Aged; Asperger Syndrome; Data Collection; Female; Humans; Male; Middle Aged; Occupations; Self Efficacy; Young Adult
PubMed: 24950060
DOI: 10.1371/journal.pone.0100358 -
Archives of Disease in Childhood May 2002
Topics: Asperger Syndrome; Emotions; Humans; Leadership; Self Concept
PubMed: 11970945
DOI: 10.1136/adc.86.5.384