[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.

Spongiotic Gingival Hyperplasia in a Child with Asperger Syndrome: a Case Report.

Background: Asperger syndrome is a type of autism spectrum disorder that may affect oral health and dental management. Spongiotic gingival hyperplasia is a rare lesion with unique clinicopathological features and unknown pathogenesis that has not been previously reported in a patient with autism spectrum disorder. The purpose of this case report is to present the first case of spongiotic gingival hyperplasia in a child with Asperger syndrome. Methods: A 14-year-old boy with Asperger syndrome was referred for diagnosis and management of bright red granular overgrowths of the marginal gingiva and interdental papilla of the mandibular right incisors and marginal gingiva of the mandibular left incisor. A biopsy was performed on the interdental papilla between the mandibular right incisors. Results: Microscopic examination and cytokeratin 19 immunopositivity confirmed the diagnosis of spongiotic gingival hyperplasia. The parents of the patient declined any further intervention, and four months later the gingival lesions, including the biopsied area, did not show any significant difference from the initial examination. Conclusions: Patients with autism spectrum diseases, such as Asperger syndrome, cannot achieve a good level of oral hygiene. Thus, it is expected that the incidence of spongiotic gingival hyperplasia should be higher in this group of patients, in case oral microbiome participates in its pathogenesis. Management of such lesions is challenging, as such patients do not comply with a proper oral hygiene program and do not cooperate with surgical excision.

The Long-Term Adaptations of a Combined Swimming and Aquatic Therapy Intervention in an Adult Person with High-Functioning Autism (Asperger's Syndrome): A Case Study.

Individuals with High-Functioning Autism present impairments in communication, social interaction, and motor development. A low level of motor skills, namely difficulties in gross and fine mobility, and in motor control, discourage individuals with High-Functioning Autism from being involved in physical activities, resulting in fewer opportunities for social interaction. There is not much evidence available about the effects of regular swimming exercise and/or aquatic therapy on health promotion in adults with High-Functioning Autism. An adult male (22 yrs) diagnosed with High-Functioning Autism participated in a combined 6-month swimming and aquatic therapy program (two sessions/week, 60 min each). The pre- and post-intervention assessments consisted of physical fitness, balance, functional ability, and psychomotor tests. The post-intervention assessments showed improvements in the standing long jump (+100%), hand grip force (+71.7%), bend arm hang test (+123.1%), and the physiological parameters in the 6 min walk test (+10.2%). On the opposite, decrements in the sit-up (-12%) and sit-and-reach test (-6.3%) were observed. It was noted that the participant frequently lost interest and focus quickly, resulting in the abandonment of the exercise. Conclusively, there is a great need for further research on this topic examining a larger adult population.

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.

Altered brain network organization in adults with Asperger's syndrome: decreased connectome transitivity and assortativity with increased global efficiency.

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that persists into adulthood with both social and cognitive disturbances. Asperger's syndrome (AS) was a distinguished subcategory of autism in the DSM-IV-TR defined by specific symptoms including difficulties in social interactions, inflexible thinking patterns, and repetitive behaviour without any delay in language or cognitive development. Studying the functional brain organization of individuals with these specific symptoms may help to better understand Autism spectrum symptoms. Methods: The aim of this study is therefore to investigate functional connectivity as well as functional network organization characteristics using graph-theory measures of the whole brain in male adults with AS compared to healthy controls (HC) (AS: n = 15, age range 21-55 (mean ± sd: 39.5 ± 11.6), HC: n = 15, age range 22-57 [mean ± sd: 33.5 ± 8.5]). Results: No significant differences were found when comparing the region-by-region connectivity at the whole-brain level between the AS group and HC. However, measures of "transitivity," which reflect local information processing and functional segregation, and "assortativity," indicating network resilience, were reduced in the AS group compared to HC. On the other hand, global efficiency, which represents the overall effectiveness and speed of information transfer across the entire brain network, was increased in the AS group. Discussion: Our findings suggest that individuals with AS may have alterations in the organization and functioning of brain networks, which could contribute to the distinctive cognitive and behavioural features associated with this condition. We suggest further research to explore the association between these altered functional patterns in brain networks and specific behavioral traits observed in individuals with AS, which could provide valuable insights into the underlying mechanisms of its symptomatology.

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.

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.

Asperger Syndrome (AS): A Review Article.

A variant of autism spectrum disorder (ASD) known as Asperger syndrome (AS) is characterized by severe issues with interpersonal, verbal, and nonverbal communication as well as restricted and repetitive patterns of behavior and activities. Although there is no known cause for ASD, various genetic as well as non-genetic risk factors that may act either alone or in combination to induce ASD have been identified. The occurrence of ASD has been increasing worldwide. Co-occurring neuropsychological diseases are frequently present as well. The premise for diagnosis is the observation of abnormal conduct, with diagnostic criteria emphasizing limitations in social interaction and communication as well as constrained, repetitive behavioral patterns, activities, or hobbies. The degree of the illness and the presence of intellectual impairment have a significant impact on the prognosis. Like autism, Asperger's can neither be prevented nor treated. There is no specific medical therapy that can effectively cure all of the symptoms of autism. However, medications may be used as adjuvant therapy for maladaptive behaviors and co-occurring mental problems. The treatment aims to reduce core impairments, increase functional ability, and reduce harmful behaviors that could limit functional skills. It is crucial to provide proper care, establish supportive networks for individuals who are affected and their families, and use effective therapies to enhance functioning and results.

First Application of Fecal Microbiota Transplantation in Adult Asperger Syndrome With Digestive Symptoms-A Case Report.

Asperger syndrome (AS) is a chronic neurodevelopmental disorder. Although all of the clinically diagnosed cases display normal intelligence and speech functions, barriers in social interaction and communication seriously affect mental health and psychological function. In addition to traditional psychological/behavioral training and symptomatic medication, in-depth studies of intestinal microbiota and mental health have indicated that probiotics (e.g., Lactobacillus rhamnosus) can effectively reduce the occurrence of AS. Fecal microbiota transplantation (FMT) is a type of biological therapy that involves the transplant of intestinal microbiota from healthy donors into the patient's gastrointestinal tract to improve the gut microenvironment. In this case report, we describe the first case of adult AS treated with FMT. The patient suffered from diarrhea-predominant irritable bowel syndrome for 6 years with symptoms of diarrhea and abdominal pain. After three rounds of FMT, the diarrhea and abdominal pain were significantly improved. Moreover, the symptoms of AS were also significantly ameliorated. We found that FMT changed the structure of the intestinal microbiota as well as the patient's serum metabolites, and these changes were consistent with the patient's symptoms. The metabolites may affect signaling pathways, as revealed by Kyoto Encyclopedia of Genes and Genomes enrichment analysis. The changes in microbial metabolites following FMT may affect other regions (e.g., the nervous system) via the circulatory system, such that the bacteria-gut-blood-brain axis may be the means through which FMT mitigates AS.