[Síndrome de fiebre periódica, adenitis, faringitis y aftosis en un preescolar con síndrome de Asperger: reporte de caso].

Background: Autoinflammatory diseases are a heterogeneous group of pathologies whose prevalence is undefined to date. Within these, the Periodic Fever Syndrome, Adenitis, Pharyngitis and Aphthosis (PFAPA) is determined as the most common and the most studied. Neurodevelopmental and behavioral disor- ders, including those of the Autism Spectrum, are especially prevalent in patients with allergic and autoimmune diseases, however, there is little documented regarding their relationship with autoinflammation. Case report: The case of a patient with Asperger Syndrome with subsequent onset of this autoinflammatory disease is shown. Two weekly blood counts and complete serum immunoglobulins are obtained, which do not show a decrease in neutrophil counts or sublevels or supralevels in immunoglobulins. Conclusion: When he returned to his follow-up appointment, he reported a feverish peak 2 days before, which ceased with the administration of the steroid, and if there was presence of oral ulcers on this occasion, fulfilling the modified Marshall criteria. Likewise, a great change is noted in their development and cooper- ation in exploration. The duality of this autoinflammatory syndrome in a patient with Asperger Syndrome is determined.

Antecedentes: Las enfermedades autoinflamatorias son un grupo heterogéneo de patologías cuya prevalencia es indefinida hasta nuestra actualidad. Dentro de estas, el Síndrome de Fiebre Periódica, Adenitis, Faringitis y Aftosis (PFAPA, por sus siglas en inglés) se determina como la más común y de las mayormente es- tudiadas. Las alteraciones del neurodesarrollo y la conducta, entre estas las del Espectro Autista, son especialmente prevalentes en pacientes con enfermedades alérgicas y autoinmunes, sin embargo, hay poco documentado en cuanto a su relación con la autoinflamación. Reporte de caso: Se muestra el caso de un paciente con Síndrome de Asperger con debut posterior de esta enfermedad autoinflamatoria. Se obtienen 2 biometrías hemáticas semanales e inmunoglobulinas séricas completas, las cuales no muestran descenso en conteos de neutrófilos ni infraniveles ni supraniveles en las inmunoglobulinas. Conclusión: Al reacudir a su cita de control refiere pico febril 2 días previos, el cual cesó con la administración del esteroide, ya si presencia de úlceras orales en esta ocasión, cumpliendo los criterios modificados de Marshall. Por igual, se nota un gran cambio en su desenvolvimiento y cooperación a la exploración. Se determina la dualidad de este síndrome autoinflamatorio en un paciente con Síndrome de Asperger.

Feelings of loneliness and meaning in life in subjects with Asperger's syndrome: a pilot study.

Subjects with Asperger's syndrome without intellectual disabilities have significant difficulties in establishing social relationships despite their IQ being within the normal range. One of the effects of social deficit is depression. The question arises whether loneliness and dimensions of meaning in life correlate with the severity of depression and whether the average severity of depression, loneliness and dimensions of meaning in life differentiate the following groups: people with Asperger's syndrome and depression, people with Asperger's syndrome without depression, people with depression without Asperger's syndrome and healthy subjects. The study was conducted on a total of 170 people, including: 43 people with Asperger's syndrome and depression, 41 people with Asperger's syndrome without depression, 40 people with depression without Asperger's syndrome and 46 healthy people (without Asperger's syndrome and without depression). All were administered a demographic survey, Beck Depression Inventory II (BDI-II), De Jong Gierveld Loneliness Scale, Life Attitude Profile-Revised. Asperger's syndrome and depressive episodes were diagnosed on the basis of ICD-10 research criteria still applicable in Poland. In the group with Asperger's syndrome and depression the highest levels of loneliness and the lowest values of the dimensions of the sense of meaning in life, except for the acceptance of death, were observed. This result was significantly different from the results obtained in the other study groups. Both in people with Asperger's syndrome without depression and in people with depression without Asperger's syndrome, the values of the dimensions of the sense of meaning in life and the level of loneliness differ significantly from the results obtained in the control group. The BDI-II scores correlated positively with the loneliness values and negatively with the sense of meaning in life values in all groups. The results indicate that both suffering from depression and having Asperger's syndrome are associated with an increased sense of loneliness and a reduced sense of meaning in life. People with Asperger's syndrome and depression have the highest values of loneliness and the lowest values of dimensions of the sense of meaning of life compared to the other groups studied. The limitation of the work is the deliberate selection of groups, because it would be interesting to answer the question whether Asperger's syndrome is a risk factor for depression in the population.

The Chinese "Reading the Mind in the Eyes" Test: A study with normal adults, and adults with Asperger syndrome/high-functioning autism.

We developed a 28-item Chinese Eyes Test and tested its psychometric properties with a mixed sample of high-functioning adults with autism or Asperger syndrome and neurotypical adults. The Chinese Eyes Test showed good convergent and divergent validity, satisfactory known-group discrimination, and acceptable internal consistency. The identified cutoff score of 18 or below (Sensitivity: 66.7%; Specificity: 84.0%) should be useful for identifying clinically significant levels of social cognitive deficits, in terms of difficulty with the perceptual understanding of others' mental states, in high-functioning adults with autism or Asperger syndrome.

Using simple economic games to assess social orienting and prosocial behavior in adolescents with autism spectrum disorder.

Deficits in socio-emotional reciprocity, in prosocial behavior and in developing social relationships are diagnostic criteria of autism spectrum disorder (ASD), usually assessed by self-report or observation. Simple social experiments developed by behavioral economists allow for quantification of ASD-related social behavior. In this study, we used such experiments to compare social-economic decision-making between ASD adolescents and neurotypical controls. Precisely, we analyzed social orienting and prosocial behavior in 17 adolescents with ASD (Asperger syndrome) and 24 matched neurotypical adolescents. We used a two-condition distribution game (possibility of punishment by fellow player versus no such possibility) and an impunity game to examine social orienting (distribution game) and prosocial behavior (both games). Participants with ASD exhibited less social orienting in the distribution game (p = 0.03, d = -0.61). In addition, there was a trend for ASD participants to behave in a more prosocial way than neurotypical participants in the impunity game (p = 0.08, d = 0.60), which was not the case in the no-punishment condition of the distribution game (p = 0.35, r = 0.17). These results demonstrate the potential of simple economic games to capture reduced social orienting in ASD. The unexpected finding of more prosocial behavior in adolescents with autism spectrum disorder than in neurotypical controls adds to the complexity of previously published results. We recommend meta-analytic efforts to determine average effect sizes across studies and elucidate the conditions for prosocial behavior in ASD to occur.

RADX Gene Variant May Predispose to Familial Asperger Syndrome.

Asperger syndrome (AS) is a pervasive developmental disorder characterized by general impairment in socialization, stereotypical behavior, defective adaptation to the social context usually without intellectual disability, and some high functioning areas related to memory and mathematics. Clinical criteria are not well defined and the etiology is heterogeneous and mostly unknown. Like in typical autism spectrum disorders (ASD), the genetic background plays a crucial role in AS, and often an almost mendelian segregation can be observed in some families. We performed a whole exome sequencing (WES) in three relatives of a family with vertical transmission of AS-ASD to identify variants in candidate genes segregating with the phenotype. Variant p.(Cys834Ser) in the RADX gene was the only one segregating among all the affected family members. This gene encodes a single-strand DNA binding factor, which mediates the recruitment of genome maintenance proteins to sites of replication stress. Replication stress and genome instability have been reported recently in neural progenitor cells derived from ASD patients, leading to a disruption of long neural genes involved in cell-cell adhesion and migration. We propose RADX as a new gene that when mutated could represent a predisposing factor to AS-ASD.

Impact of the COVID-19 Pandemic on Psychosocial Well-being and Adaptation in Children and Adolescents with Asperger's Syndrome.

Mental health could worsen in children and adolescents with autism spectrum disorder during the COVID-19 pandemic. In addition, their parents could be more at risk for an increase in anxiety and depression symptomatology. This study aims to understand the adaptation and the psychosocial well-being in a sample of 16 males aged 10-21 years old with Asperger's syndrome after the quarantine for COVID-19 when they return to school and partially to their activities in September 2020. The adopted approach is multi-informant with a battery of questionnaires on psychological health and adaptation given by a secure online web data Qualtrics both to adolescents and also to their parents. Paralleling matched peers with typical developments were assessed by adopting the same methodology. The results evidenced several difficulties in psychological health in population with Asperger's syndrome, especially in anxiety and socialization. Adaptation is put in crisis, even if they reported a good comprehension and adoption of the right behaviors anti-COVID-19. Parents of children with Asperger's syndrome reported similar psychological difficulties and general health to those of the group of children typically developing. Some clinical indications could be discussed for psychologists who follow children and adolescents with Asperger's syndrome.

An evaluation of the diagnostic validity of the structured questionnaires of the adult Asperger's Assessment.

The Adult Autism Quotient (AQ), the Empathy Quotient (EQ) and the Relative's Questionnaire (RQ) were used as part of the Adult Asperger's Assessment (AAA) by a diagnostic service for adults without an intellectual disability with suspected autism spectrum disorder (ASD). This service is part of the National Health Service (NHS) in England. Little is known about the utility of these structured questionnaires despite wide use in clinical practice. It was investigated whether the questionnaires could discriminate between individuals with and without a diagnosis of ASD. Receiver Operating Curve analysis showed good levels of sensitivity to detect a positive diagnosis, but the specificity to exclude those without a diagnosis was poor. A binary logistic regression showed that a combination of the questionnaires also showed limited diagnostic validity. These findings have clinical implications in reviewing the efficiency of the assessment process.

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.

Patient with Asperger's Syndrome, with episodes of fantasizing and rocking of body, treated with aripiprazole - a case report. / Pacjent z zespolem Aspergera, z epizodami fantazjowania i kolysania cialem leczony aripiprazolem ­ opis przypadku.

In this article, we present the case of an adult patient, whose main problem is episodes of fantasizing and rocking lasting up to 12 hours a day and completely preventing school development. The nature of the disorder in the patient is related to the sinking into fantasies, and not typical obsessions as in OCD. The patient was previously treated with drugs from the SSRI group, neuroleptics (without aripiprazole) and methylphenidate. Only methylphenidate showed some improvement; however, it made the patient feel ?stiff in thinking". The patient was hospitalized because of a suicide attempt, which, as it later turned out, was self-harm with no intention of killing himself. During hospitalization, a differential diagnosis was performed and the diagnosis of Asperger's syndrome was made, which was accompanied by immersion in the world of one's fantasies and stereotypical behavior. The patient was administered aripiprazole at a dose of 15 mg/d and after three weeks, a significant improvement in health was achieved, including a reduction in the duration of episodes from several hours to several dozen seconds. The drug is well tolerated by the patient. The patient was discharged from the hospital and continues his school education. In the article, we present single case reports in which similar spectacular results were achieved in similar cases. We also describe a possible physiological explanation for this response to this drug.

Plasma and red blood cell n3 fatty acids correlate positively with the WISC-R verbal and full-scale intelligence quotients and inversely with Conner's parent-rated ADHD index t-scores in children with high functioning autism and Asperger's syndrome.

Findings of the fatty acid status of people with autism spectrum disorders have been incongruent perhaps because of the diversity of the condition. A cross-sectional design study was used to  investigated fatty acid levels and relationships between fatty acids, and cognition and behaviour in a homogenous group of children with autism spectrum disorder. Children with Asperger's syndrome (AS) /high functioning autism (n = 44) and healthy siblings (n = 17) were recruited from the Diagnostic and Therapeutic Centre for Children with Autism, Warsaw, Poland. In the AS group, plasma phosphatidylcholine 22:5n3 correlated positively with verbal (r = 0.357, p = 0.019) and full scale (r = 0.402, p = 0.008) IQs, red blood cell phosphatidylcholine 22:5n3 with verbal (r = 0.308, p = 0.044), performance (r = 0.304, p = 0.047) and full scale (r = 0.388, p = 0.011) IQs and red blood cell phosphatidylethanolamine 22:5n3 with verbal (r = 0.390, p = 0.010) and full scale (r = 0.370, p = 0.016) IQs. Whilst, plasma phosphatidycholine 20:5n3 (r = -0.395, p = 0.009), 22:6n3 (r = -0.402, p = 0.007) and total n3 fatty acids (r = -425, p = 0.005), red blood cell phosphatidlycholine 20:5n3 (r = -0.321, p = 0.036) and red blood cell phosphatidylethanolamine 20:5n3 (r = -0.317, p = 0.038), 22:6n3 (r = -0.297, p = 0.05) and total n3 fatty acids (r = -0.306, p = 0.046) correlated inversly with ADHD index. Similarly, inattention was negatively related with plasma phosphatidylcholine 22:6n3 (r = -0.335, p = 0.028), and total n3 fatty acids (r = -0.340, p = 0.026), oppositional with plasma phosphatidylcholine 18:3n3 (r = -0.333, p = 0.029), 20:5n3 (r = -0.365, p = 0.016), total n3 fatty acids (r = -0.293, p < 0.05), red blood cell phosphatidylcholine 18:3n3 (r = -0.337, p = 0.027) and red blood cell ethanolamine 18:3n3 (r = - 0.333, p = 0.029), 20:5n3 (r = -0.328, p = 0.032), 22:6n3 (r = 0.362, p = 0.017) and total n-3 fatty acids (r = -0.298, p < 0.05) and hyperactivity with plasma phosphatidylcholine 22:6n3 (r = -0.320, p = 0.039). In contrast, there were inverse correlations between red blood cell phosphatidylcholine 18:2n6 and performance (r = -0.358, p = 0.019) and full scale (r = -0.320, p = 0.039) IQs, and direct correlations between red blood cell phosphatidylcholine 22:4n6 (r = 0.339, p = 0.026) and 22:5n6 (r = 0.298, p < 0.05) and ADHD index, between red blood cell phosphatidylcholine 22:4n6 (r = 0.308, p = 0.044) and inattention, between plasma phosphatidylcholine 22:4n6 (r = 0.341, p = 0.025), red blood cell phosphatidylcholine 20:4n6 (r = 0.314, p = 0.041) and total n6 fatty acids (r = 0.336, p = 0.028) and oppositional and plasma phosphatidylcholine 20:3n6 (r = 0.362, p = 0.018) and red blood cell phosphatidylcholine 20:3n6 (r = 0.401, p = 0.009) and hyperactivity. The findings of the ethnically homogenous children with Asperger's syndrome/high functioning autism study revealed positive associations between 22:5n3 and cognition, and negative relationships between 20:5n3 and 22:6n3 and behavioural problem. In contrast, cognitive ability and behavioural problems were negatively and positively associated with n6 fatty acids. Further investigation is required to establish whether there a cause and effect relationship. Regardless, it would be prudent to ensure that children with the conditions have optimum n3 PUFA intake.

Evidence from Characteristics and Comorbidities Suggesting That Asperger Syndrome Is a Subtype of Autism Spectrum Disorder.

The current version of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders (DSM-V) does not consider Asperger syndrome a diagnostic category. This study was undertaken to see if there is evidence that this diagnosis should be reinstated. An online survey was conducted to examine symptoms and behaviors associated with the current diagnostic criteria of autism spectrum disorders (ASD) (DSM-V), and those associated with Asperger syndrome based on the previous version (DSM-IV-TR). The study also examined other characteristics historically associated with autism, as well as impairments often reported in infancy/young childhood and medical comorbidities frequently associated with autism. The sample included 251 individuals who had received a diagnosis of Asperger syndrome and 1888 who were diagnosed with autism or ASD. Numerous similarities and differences were found between the two groups. The findings are discussed in relation to reestablishing Asperger syndrome as a valid diagnostic category as well as a subtype of ASD.

Morphometric evaluations based on Voxel Based Morphometry on adolescents with autism spectrum disorders. / Badania morfometryczne oparte o pomiar voksela (Voxel Based Morphometry) u nastolatków z zaburzeniami ze spektrum autyzmu.

OBJECTIVES: Goal: to evaluate changes in the grey matter volume using the VBM method in a group of adolescents with ASD, who met the criteria for Asperger's Syndrome. METHODS: Material and methods: Morphometric evaluations based on Voxel Based Morphometry (VBM) were performed on 37 male adolescents aged 12 to 19 (M = 14.3 ± 2.0), with autism spectrum disorders, who met the DSM-IV-TR criteria for Asperger's Syndrome and 15 neurotypical adolescents matched by age. Significance was set at p<0.007 without FWE correction and p<0.05 with FWE correction. RESULTS: Results: the decrease in the volume of the grey matter was observed in ASD group including the pre- and postcentral gyrus, the superior and middle frontal gyrus, the inferior and superior parietal lobule, the praecuneus, the anterior and posterior cingulate cortex, the fusiform gyrus, the parahippocampal gyrus, the lingual gyrus, the middle occipital region, the cuneus and the angular gyrus, the regions of calcarine sulcus and the cerebellum. The majority of changes was localized bilaterally. CONCLUSIONS: Conclusions: the decrease in the volume of grey matter observed in ASD group can be related functionally with the characteristics of deficits observed in autism spectrum disorders which highlights the role of abnormal organization of numerous CNS structures in the genesis of symptoms observed in cognitive and behavioural domains.

Semantic decisions in adolescents with autism spectrum disorders - functional magnetic resonance imaging study. / Decyzje semantyczne u nastolatków z zaburzeniami ze spektrum autyzmu - badanie czynnosciowym rezonansem magnetycznym.

OBJECTIVES: Goal: to assess fMRI activation during semantic tasks in adolescents with ASD. METHODS: Material: 44 right-handed male adolescents aged 12-19 (mean 14.3 ± 2.0) - 31 with autism spectrum disorders who met DSM-IV-TR criteria for Asperger's syndrome and 13 neurotypical adolescents matched according to age and handiness. Method: Functional testing (fMRI) was performed during semantic decisions tasks and phonological decisions in three categories of tasks: concrete nouns, verbs with plural meanings, words describing states of mind, as a control condition. Statistical analyzes were performed at the level of p <0.05 with FWE (family-wise error) correction and p <0.001. RESULTS: Results: lower BOLD signal was demonstrated in many brain areas including precuneus, posterior cingulate gyrus, angular gyrus, parahippocampal gyrus, regardless of task category and processing method in the ASD group. The smallest differences in semantic processing were found for concrete nouns and the greatest ones for words describing states of mind. CONCLUSIONS: Conclusions: the presence of different activation patterns in the ASD group suggests that far more than just the areas traditionally attributed to language processing, are involved in semantic deficits in ASD.

The Autism-Spectrum Quotient (AQ) Adolescent's Version in Turkey: Factor Structure, Reliability and Validity.

We assessed the reliability and validity of the Turkish version of the autism spectrum quotient (AQ)-adolescent. Three assessment groups of adolescents, aged 11-18, were: 80 with Asperger syndrome/high-functioning autism (AS/HFA), 71 with other psychiatric disorders (PDs; 35 major depression, 18 obsessive-compulsive disorder, 18 social phobia), and 249 healthy controls. The scores of the AS/HFA group were significantly higher than the healthy control and PD groups. Cronbach α value was 0.829. Ordinal alpha value was 0.90. We showed the AQ-adolescent four-factor structure in the factor analysis. In the test-retest of AQ-adolescent and subscale scores, "very strong" significant correlation values were detected. A cut-off score of 24 best distinguished the autism group from healthy controls with 0.975 sensitivity and 0.991 specificity.

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.