'Early childhood autism, Asperger type', by H. Asperger (1982).

After his 1944 thesis, Asperger continued to write about autism, but none of these texts have been translated. At a time when autism spectrum disorder faces many challenges (e.g. the nature and measurement of autism), this text tells us more about the particular population that Asperger worked with. He describes sensitive, intelligent, creative and rational children, a far cry from the Wing triad. Moreover, 'Asperger's Syndrome' was introduced after he had died, was included in the DSM-IV in 1994 and was omitted from the DSM-5 in 2013. The question posed by this last text, written before his death, is whether Asperger's descriptions of autistic children are really part of the autism spectrum disorder or whether they are outside the pathological field.

An assessment of what Hans Asperger knew about child euthanasia in Vienna during the Nazi occupation.

AIM: Hans Asperger is probably best known for Asperger syndrome. However, he has been accused of knowingly and willingly participating in the National Socialist Child Euthanasia programme by referring patients to the Am Spiegelgrund children's home in Vienna. This later became notorious for euthanising disabled children. We investigated those allegations. METHODS: Clinicians and historians examined original documents and transcripts related to Asperger's referrals from the Viennese Therapeutic Pedagogy Unit, and corresponding Am Spiegelgrund admissions, up to 25 March 1943, when he was drafted. RESULTS: Asperger referred 13 children to Am Spiegelgrund. Eleven survived and apparently received adequate care that allowed them to achieve positive developments, but two girls died. Asperger referred these two girls during June and October 1941, before most of the deaths at Am Spiegelgrund occurred and before its euthanasia programme became public knowledge. Our detailed investigation of the medical records, Unit referral practices and Am Spiegelgrund provided no evidence that Asperger knew about the euthanasia programme at the time of the referrals. One death was probably due to euthanasia, but the other was less clear. CONCLUSION: There was no evidence that Asperger knew about the euthanasia programme when he referred two patients who died at Am Spiegelgrund.

Impaired expression of the COSMOC/MOCOS gene unit in ASD patient stem cells.

Autism spectrum disorders (ASD) are complex neurodevelopmental disorders with a very large number of risk loci detected in the genome. However, at best, each of them explains rare cases, the majority being idiopathic. Genomic data on ASD derive mostly from post-mortem brain analyses or cell lines derived from blood or patient-specific induced pluripotent stem cells (iPSCS). Therefore, the transcriptional and regulatory architecture of the nervous system, particularly during early developmental periods, remains highly incomplete. To access the critical disturbances that may have occurred during pregnancy or early childhood, we recently isolated stem cells from the nasal cavity of anesthetized patients diagnosed for ASD and compared them to stem cells from gender-matched control individuals without neuropsychiatric disorders. This allowed us to discover MOCOS, a non-mutated molybdenum cofactor sulfurase-coding gene that was under-expressed in the stem cells of most ASD patients of our cohort, disturbing redox homeostasis and synaptogenesis. We now report that a divergent transcription upstream of MOCOS generates an antisense long noncoding RNA, to which we coined the name COSMOC. Surprisingly, COSMOC is strongly under-expressed in all ASD patients of our cohort with the exception of a patient affected by Asperger syndrome. Knockdown studies indicate that loss of COSMOC reduces MOCOS expression, destabilizes lipid and energy metabolisms of stem cells, but also affects neuronal maturation and splicing of synaptic genes. Impaired expression of the COSMOC/MOCOS bidirectional unit might shed new lights on the origins of ASD that could be of importance for future translational studies.

Commentary: Considering nomenclature for autism - aligning with the language preferences of the autistic community - a commentary on Kehinde et al. (2021).

Since the implementation of 'autism' as a diagnosable condition in the 1980s, the medical model has continued to dominate how we understand autism. More recently, there has been a rise in understanding autism through the neurodiversity model and the lived experiences of autistic people themselves. However, there is often misalignment between the medical model and the preferences of the autistic community. In particular, there are misalignments around the language we use in society to discuss autism and autistic people. Language misalignments are particularly important, with language playing an important role in conveying understandings of a group within society. This article highlights these nomenclature misalignments, focussing on (1) Asperger syndrome, (2) functioning labels, (3) severity assumptions, (4) the language of disorder and (5) identity-first compared to person-first language. The article discusses the difficulties that might present in healthcare settings as a result of these misalignments.

[Autism spectrum disorder in verbal adults without intellectual disabilities (Asperger syndrome)]. / Trouble du spectre de l'autisme chez l'adulte verbal sans déficience intellectuelle (syndrome d'Asperger).

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder associating persistent communication and social interaction deficits with behaviors, interests or activities of a restricted and repetitive nature. The etiology of ASD is not yet fully understood but appears to be multifactorial, including both genetic and environmental factors. The concept of autism underwent a major evolution before arriving at the current definition in DSM-5. The diagnosis has two parts: a categorical from cut-off and differential diagnosis established from a specification of the category by dimensional variables (intelligence, language, associated diseases, adaptation). These two parts (categorical diagnosis and specifiers) are complementary but pose a certain number of practical problems in establishing the diagnosis in adulthood.

Le trouble du spectre de l'autisme (TSA) est un trouble neurodéveloppemental associant des déficits persistants de la communication et des interactions sociales à des comportements, intérêts ou activités présentant un caractère restreint et répétitif. L'étiologie du TSA n'est pas complètement élucidée mais semble plurifactorielle, comportant des facteurs génétiques et environnementaux. La notion d'autisme a subi une évolution importante avant d'aboutir à l'actuelle définition dans le DSM-5. Le diagnostic comprend : a) un diagnostic catégoriel établi à partir de seuils et b) un diagnostic dimensionnel établi à partir de variables dimensionnelles (intelligence, langage, maladies associées, adaptation). Ces 2 parties sont complémentaires mais posent un certain nombre de problèmes pratiques à l'établissement du diagnostic à l'âge adulte.

A comparative study of the genetic components of three subcategories of autism spectrum disorder.

The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) controversially combined previously distinct subcategories of autism spectrum disorder (ASD) into a single diagnostic category. However, genetic convergences and divergences between different ASD subcategories are unclear. By retrieving 1725 exonic de novo mutations (DNMs) from 1628 subjects with autistic disorder (AD), 1873 from 1564 subjects with pervasive developmental disorder not otherwise specified (PDD-NOS), 276 from 247 subjects with Asperger's syndrome (AS), and 2077 from 2299 controls, we found that rates of putative functional DNMs (loss-of-function, predicted deleterious missense, and frameshift) in all three subcategories were significantly higher than those in control. We then investigated the convergences and divergences of the three ASD subcategories based on four genetic aspects: whether any two ASD subcategories (1) shared significantly more genes with functional DNMs, (2) exhibited similar spatio-temporal expression patterns, (3) shared significantly more candidate genes, and (4) shared some ASD-associated functional pathways. It is revealed that AD and PDD-NOS were broadly convergent in terms of all four genetic aspects, suggesting these two ASD subcategories may be genetically combined. AS was divergent to AD and PDD-NOS for aspects of functional DNMs and expression patterns, whereas AS and AD/PDD-NOS were convergent for aspects of candidate genes and functional pathways. Our results indicated that the three ASD subcategories present more genetic convergences than divergences, favouring DSM-5's new classification. This study suggests that specifically defined genotypes and their corresponding phenotypes should be integrated analyzed for precise diagnosis of complex disorders, such as ASD.

A case of co-occuring synesthesia, autism, prodigious talent and strong structural brain connectivity.

BACKGROUND: Synesthesia is a sensory phenomenon where certain domain-specific stimuli trigger additional sensations of e.g. color or texture. The condition occurs in about 4% of the general population, but is overrepresented in individuals with Autism Spectrum Disorder (ASD), where it might also be associated with the presence of prodigious talents. CASE PRESENTATION: Here we describe the case of a young transsexual man with Asperger Syndrome, synesthesia and a prodigious talent for foreign language acquisition. In our case, not only letters, numbers, spoken words, music, noises, weekdays and months lead to highly consistent, vivid color sensations but also his own and others' emotions, geometric shapes, any mathematical symbol, and letters from an unfamiliar alphabet (Hebrew). These color associations seem to aid categorization, differentiation and storage of information and might thereby contribute to the young man's language acquisition ability. We investigated the young man's structural brain connectivity in comparison to adults with or without ASD, applying global fiber tracking to diffusion-weighted Magnetic Resonance Imaging (MRI) data. The case presented with increased connectivity, especially between regions involved in visual and emotion processing, memory, and higher order associative binding regions. An electroencephalography experiment investigating synesthetic color and shape sensations while listening to music showed a negligible occipital alpha suppression, indicating that these internally generated synesthetic sensations derive from a different brain mechanism than when processing external visual information. CONCLUSIONS: Taken together, this case study endorses the notion of a link between synesthesia, prodigious talent and autism, adding to the currently still sparse literature in this field. It provides new insights into the possible manifestations of synesthesia in individuals with ASD and its potential contribution to prodigious talents in people with an otherwise unexceptional cognitive profile. Additionally, this case impressively illustrates how synesthesia can be a key element not only of sensory perception but also social and emotional processing and contributes to existing evidence of increased brain connectivity in association with synesthesia.

Well-Being and Self-Disorders in Schizotypal Disorder and Asperger Syndrome/Autism Spectrum Disorder.

We explored subjective well-being in two groups of young adult participants diagnosed with either schizotypal disorder (Sd) (n = 29) or Asperger syndrome/autism spectrum disorder (As/ASD) (n = 22). Well-being was impaired in both groups and was lower in the Sd group than in the As/ASD group. Furthermore, there was a negative correlation between well-being and the presence of self-disorders. The negative effect of self-disorders on well-being was still significant when adjusted for diagnosis, age and gender, and level of function. The present findings point toward clinically important disorder-specific differences in the nature of impaired well-being between the Sd group and the As/ASD group, as there seems to be a self-disorder-driven additional contribution to impaired subjective well-being within the schizophrenia spectrum. These findings further nuance the understanding of fundamental and clinically important qualitative differences between the schizophrenia spectrum and the autism spectrum.

The first account of the syndrome Asperger described? Part 2: the girls.

Translation of G. E. Sukhareva's "Die Besonderheiten der schizoiden Psychopathien bei den Mädchen", which appeared in 1927 in Monatsschrift für Psychiatrie und Neurologie as a continuation of "Die schizoiden Psychopathien", previously translated by Sula Wolff. This second paper comprises five case studies of girls and a discussion of the sex differences in the presentation of schizoid psychopathy, potentially what we would now consider part of the autism spectrum.

[Blessing or curse? The World Wide Web as information source for autism and Asperger Syndrome]. / Segen oder Fluch? Das Internet als Informationsquelle über Autismus und Asperger-Syndrom.

Blessing or curse? The World Wide Web as information source for autism and Asperger Syndrome Abstract. Objective: The World Wide Web is today one of the most common methods used for obtaining health-related information, though the quality of the information is sometimes questionable. The present study addresses the quality of the information source internet and the resulting implications and discusses examples related to autism spectrum disorder. Method: We systematically evaluated 96 German websites, with the aim of estimating specific characteristic features, reliability of publications, presentation of information as well as overall website quality. We also analyzed the clinical implications of the presentations. Results: Only 39 % of the websites provided references to scientifically well-founded information, whereas advertisements were found on 53 % of websites. The greatest percentage of false information (17 %) was disseminated concerning therapy. 75 % of the websites provided incomplete information. Only 10 % of websites discussed the impairment or familial burden. The quality of information was insufficient on 30 %, poor on 41 %, and good on only 6 % of the websites. Conclusions: Similar to results available for English-language websites, the quality of German websites providing health-related information can be considered low. Implications concerning confirmation bias, stigma, overidentification, in-group/outgroup, contrast and snowball effects are discussed.

[Autism spectrum symptoms in children with congenital blindness]. / Autismus-Spektrum-Symptome bei Kindern mit Geburtsblindheit.

Autism spectrum symptoms in children with congenital blindness Abstract. Objective: Previous studies reported increased rates of autistic symptoms in children with impaired visual abilities (IV). However, the application of existing screening questionnaires for autism spectrum disorders (ASD) proved problematic, as intact visual abilities are typically required. The current study examines the general applicability of three autism-screening questionnaires in children with congenital blindness. Methods: Autistic symptoms were assessed in 15 children with congenital blindness, 15 children with ASD (without IV), and 20 typically developing controls (aged from 8 to 14 years), using the Social Communication Questionnaire, the Marburg Rating Scale for Asperger's Syndrome, and the Social Responsiveness Scale. Results: Items assessing motor, mimic/gesture-related, or joint attention deficits were identified as highly prevalent in children with congenital blindness. These children scored, in general, higher on ASD-screening questionnaires than typically developing controls but lower than sighted children with ASD. Depending on the screening questionnaire used, between 23 % and 67 % of the sample with congenital blindness reached clinical cutoff scores for ASD. SRS total score was negatively correlated to cognitive empathy and verbal IQ in those children. Conclusions: Mothers of children with congenital blindness reported increased autistic symptoms in ASD-screening questionnaires. ASD and IV might share a broad range of symptoms. Future development and validation of screening instruments specifically adapted to the needs of persons with impaired visual abilities seem necessary.

Autism, spectrum or clusters? An EEG coherence study.

BACKGROUND: Autism prevalence continues to grow, yet a universally agreed upon etiology is lacking despite manifold evidence of abnormalities especially in terms of genetics and epigenetics. The authors postulate that the broad definition of an omnibus 'spectrum disorder' may inhibit delineation of meaningful clinical correlations. This paper presents evidence that an objectively defined, EEG based brain measure may be helpful in illuminating the autism spectrum versus subgroups (clusters) question. METHODS: Forty objectively defined EEG coherence factors created in prior studies demonstrated reliable separation of neuro-typical controls from subjects with autism, and reliable separation of subjects with Asperger's syndrome from all other subjects within the autism spectrum and from neurotypical controls. In the current study, these forty previously defined EEG coherence factors were used prospectively within a large (N = 430) population of subjects with autism in order to determine quantitatively the potential existence of separate clusters within this population. RESULTS: By use of a recently published software package, NbClust, the current investigation determined that the 40 EEG coherence factors reliably identified two distinct clusters within the larger population of subjects with autism. These two clusters demonstrated highly significant differences. Of interest, many more subjects with Asperger's syndrome fell into one rather than the other cluster. CONCLUSIONS: EEG coherence factors provide evidence of two highly significant separate clusters within the subject population with autism. The establishment of a unitary "Autism Spectrum Disorder" does a disservice to patients and clinicians, hinders much needed scientific exploration, and likely leads to less than optimal educational and/or interventional efforts.

Functional and structural asymmetry in primary motor cortex in Asperger syndrome: a navigated TMS and imaging study.

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.

Age-moderating effect in prepotent response inhibition in boys with Asperger syndrome: a 2.5 years longitudinal study.

Following our previous cross-sectional analysis, indicating age-related improvements of response inhibition in a random-motor-generation task (MPT) in adolescents with Asperger syndrome (AS), the present study reports data from a 2.5-year follow-up examination in the original sample. We found more marked improvements within the follow-up interval in younger AS children, while older AS boys as well as typically developing (TD) boys remained at a relatively constant level throughout. The current longitudinal study further substantiates the notion that AS children (on average) catch up with TD children when they grow older as regards the basic inhibition of developing routine response patterns.

Asperger's syndrome: What to consider?

Asperger's syndrome is a neurodevelopmental disorder which is part of the large family of autism spectrum disorders. People with Asperger's syndrome have difficulties in social interactions, verbal and non-verbal communication, and may display behavioural oddities, with stereotypies and limited interests. They show no language delay and their cognitive development is not marked by an overall delay but by specific impairments in certain areas such as the executive functions. The clinical presentations are very heterogeneous, varying according to age and psychiatric comorbidities. Screening, diagnosis and specialized treatment are not made any easier by the diversity of the clinical manifestations. Asperger's syndrome is often diagnosed belatedly, at 11years of age on average and even in adulthood in some cases. This late diagnosis has a significant impact on the risks of depression and a poor quality of life. However, in adulthood or in adolescence, certain situations, personality traits and cognitive profiles or certain comorbidities should suggest the hypothesis of an Asperger-type autism spectrum disorder. We propose here a review of the clinical situations at different ages of life that could help with the screening and the referral of patients to specialized clinicians for diagnosis and appropriate treatment.

Comprehending conjunctive entailment of disjunction among individuals with Asperger syndrome.

Although individuals with Asperger syndrome (AS) are often described to be semantic-pragmatic disordered, it is still unclear to what extent their semantic comprehension is impaired. The primary goal of this study is to understand the sentence comprehension of adults with AS by investigating their reading processes of sentences involving the conjunctive entailment of disjunction. More specifically, their on-line processes of reading globally ambiguous sentences containing huo 'or' in Mandarin Chinese, which can be understood as either a conjunction or a disjunction in simple negative statements, were recorded. The results indicated that both AS and typically developing groups tended to interpret the ambiguous huo as a conjunction. Additionally, both groups consistently spent significantly more time judging the appropriateness of disjunction-biased sentences. It is argued that, for adults with AS, at least some aspects of semantic knowledge are intact. Future studies are suggested to focus on different sentence types to further explore to what extent that semantics is impaired among individuals with AS.

[The diagnostics of autism spectrum disorder in children, adolescents and adults: Overview of the key questions and main results of the first part of the German AWMF-S3 - clinical guideline]. / Diagnostik von Autismus- Spektrum-Störungen im Kindes-, Jugend- und Erwachsenenalter: Überblick zu den wesentlichen Fragestellungen und Ergebnissen des ersten Teils der S3-Leitlinie.

The diagnostics of autism spectrum disorder in children, adolescents and adults: Overview of the key questions and main results of the first part of the German AWMF-S3 - clinical guideline Abstract. Background: Autism spectrum disorders (ASD) include ICD-10 diagnoses of childhood autism, Asperger syndrome, and atypical autism; there is a lifetime prevalence of ~1 %. The aim of the evidence-based clinical guideline (AWMF-S3-Guideline) is to summarize the current evidence concerning diagnostic and therapeutic processes for professionals working in healthcare and social welfare and to provide consensus on clinical recommendations. The present study summarizes the most important results of the diagnostic part of this guideline. Method: The guideline group comprised 14 clinical and scientific expert associations from the German healthcare system, in addition to representatives of relatives and patients. Recommendations were based on results of a systematic literature search, data extraction, the evaluation of study quality, and, if possible, meta-analytic aggregation of included data in combination with the clinical expertise of the respective representatives. Consensus-based recommendations were determined via nominal group technique. Results: The AWMF-S3-Clinical Guideline, Diagnostic Part, summarizes current research on this topic. The main focus is put on the question of obligatory versus redundant diagnostic procedures. After a general introduction to the clinical picture of ASD, essential aspects like obtaining the medical history, the effective use of screening and diagnostic instruments, medical examination, the full diagnostic work-up as well as communicating the diagnostic results to relatives and patients are described in detail. We also conducted a meta-analysis on the stability of early diagnosis. Conclusion: This first part of the ASD guideline offers users the opportunity to inform themselves about the background of ASD as well as evidence-based and broadly consented information on the correct diagnostic process of ASD from infancy to adulthood.

[Clinical effect of integrated sandplay therapy in children with Asperger syndrome].

OBJECTIVE: To study the clinical effect of integrated sandplay therapy in preschool children with Asperger syndrome (AS). METHODS: A total of 44 preschool children with AS were randomly divided into an experimental group and a control group, with 22 children in each group. The children in the control group were given routine training, and those in the experimental group were given integrated sandplay therapy in addition to the routine training. The treatment response was assess by the Social Responsiveness Scale (SRS), emotional recognition tools and changes in sandplay theme characteristics after 6 months of treatment. RESULTS: Before intervention, there were no significant differences between the two groups in the total score of SRS, the score of each factor of SRS, and correct rates of facial expression recognition of the upright position, inverted position, upper face and lower face (P>0.05). After 6 months of intervention, both groups had significant reductions in the total score of SRS and the score of each factor of SRS (P<0.01); the control group had significant increases in the correct rates of facial expression recognition of all positions except the upright position (P<0.05), while the experimental group had significant increases in the correct rates of facial expression recognition of all positions (P<0.05). Compared with the control group after intervention, the experimental group had significantly lower total score of SRS and scores of all factors of SRS except social perception (P<0.01) and significantly higher correct rates of facial expression recognition of all positions (P<0.01). The experimental group had a significant change in the number of sandplay theme characteristics after intervention (P<0.01). CONCLUSIONS: Integrated sandplay therapy can improve social responsiveness and emotion recognition ability in preschool children with AS.