Diagnosis Of Asperger Syndrome Research Articles

Typy zaburzeń językowych w zespole Aspergera

For many years, both the DSM‑IV and ICD-10 have built up the misconception that there are no language disorders in Asperger’s syndrome. This has had a significant impact on the problems with the diagnosis of Asperger syndrome, and has been the cause of many misdiagnoses. The current editions: DSM-5 and ICD-11 have not changed the established approach. Many years of research and clinical experience have allowed the author of this article to verify the view of normal speech and communication development in Asperger syndrome. We now know that children with ZA may manifest different types of disorders, concerning both systemic and communicative competence. The author of the article characterises the types of language problems observed in ZA, including: the specificity of early speech development, alalia (delayed speech development), aphasia, comprehension of speech and intonation of speech and indicates their sources and examples. This is of great importance in the context of the correct diagnosis and therapy of children on the autism spectrum, including the differential diagnosis of autism and Asperger syndrome.

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.

Alex Plank: building bridges

Autism advocate, neurodiversity champion, writer, actor, and filmmaker Alex Plank “had a harder time than most” growing up. “I was bullied a lot; I didn't know how to make friends, and I'd blame myself”, he says. There is nothing self-pitying in his tone; now in his mid-thirties, Plank is simply describing the way things were for an autistic young person growing up in Charlottesville, VA, USA, in the early 1990s. At the age of 9 years, Plank finally received a formal diagnosis of Asperger syndrome. He found out about it in a way typical of the proactive and investigative attitude that characterises his adult life. Plank has, he tells me, always been “a very curious person”. “I go through papers and read every little detail…I went through [his parents'] entire cabinet…and found the document outlining the diagnosis, which they were intending on telling me, but they were trying to just figure out the right way to say it.” Plank laughs, but it is clear that this was not an easy experience. He was at an age “when you see a diagnosis as being something wrong with you…unfortunately, that is a stigma that still exists, and it doesn't really help.” The Lancet Commission on the future of care and clinical research in autismAffecting about 78 million people worldwide, autism is a condition of global importance because of its prevalence and the degree to which it can affect individuals and families. Autism awareness has grown monumentally in the past 20 years, yet most striking is that much more could be done to improve life outcomes for the highly heterogeneous group of people with autism. Such change will depend on investments in science focused on practical clinical issues, and on social and service systems that acknowledge the potential for change and growth as well as the varied, complex needs of the autistic individuals and their families whose lives could be changed with such an effort. Full-Text PDF

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

BackgroundIn order to be able to provide accurate genetic counseling to patients with Autism Spectrum Disorder (ASD), it is crucial to identify correlations between heterogeneous phenotypes and genetic alterations. Among the hundreds of de novo pathogenic variants reported in ASD, single-nucleotide variations and small insertions/deletions were reported in TBR1. This gene encodes a transcription factor that plays a key role in brain development. Pathogenic variants in TBR1 are often associated with severe forms of ASD, including intellectual disability and language impairment.MethodsAdults diagnosed with ASD but without intellectual disability (diagnosis of Asperger syndrome, according to the DSM-IV) took part in a genetic consultation encompassing metabolic assessments, a molecular karyotype and the screening of a panel of 268 genes involved in intellectual disability, ASD and epilepsy. In addition, the patient reported here went through a neuropsychological assessment, structural magnetic resonance imaging and magnetic resonance spectroscopy measurements.ResultsHere, we report the case of a young adult male who presents with a typical form of ASD. Importantly, this patient presents with no intellectual disability or language impairment, despite a de novo heterozygous frameshift pathogenic variant in TBR1, leading to an early premature termination codon (c.26del, p.(Pro9Leufs*12)).ConclusionBased on this case report, we discuss the role of TBR1 in general brain development, language development, intellectual disability and other symptoms of ASD. Providing a detailed clinical description of the individuals with such pathogenic variants should help to understand the genotype-phenotype relationships in ASD.

Motor Stereotypies in Adult Patients with Tourette Syndrome

Aim: Correctly diagnosing repetitive behaviors in patients with Tourette syndrome (TS) can be challenging. The differential diagnosis between tics and stereotypies is of particular importance, because of treatment implications. Methods: We assessed the prevalence and clinical characteristics of stereotypies in a large sample of adult patients with TS attending a specialist clinic. Results: Mild stereotypies were reported by 21/148 patients (14.2%). Patients with stereotypies were significantly more likely to have a comorbid diagnosis of Asperger syndrome, attention-deficit and hyperactivity disorder, and obsessive-compulsive disorder, compared with patients without stereotypies. Multiple linear regression analysis revealed that the presence of Asperger syndrome significantly predicted stereotypy severity. Conclusion: Stereotypies are not rare in adults with TS and other neurodevelopmental conditions, especially Asperger syndrome.

Psychological adaptation in children with autism spectrum disorder and its effect on family quality of life

In most children with autism spectrum disorder (ASD), other difficulties that do not fall within the diagnostic criteria arose, and could have an impact on family quality of life. Previous research has shown several relationships among these variables and family quality of life, however results are contradictories. To examine the role of psychological adaptation (including emotional symptoms, behavioral problems, hyperactivity, problems with peers, and prosocial behavior) in children with ASD and typical development, and its impact on family quality of life. Twenty-four families of children with ASD (level 1 of support) and 25 families of children with typical development between 6 and 13 years old. We have considered diagnosis of Asperger syndrome (following DSM-IV-TR) with ASD-level 1 of support (following DSM-5). We have evaluated intelligence, vocabulary, adaptive behavior, and family quality of life. We have found significant differences in those variables related to psychological adaptation, and in some components of the family quality of life (family interaction, physical and emotional wellbeing). In our regression model, prosocial behaviors and the group were the main predictors of satisfaction on family quality of life. It is important to pay attention to the prosocial behaviors in ASD due to its potential protective effect.

The construction of cooperative and inferential meaning by children with Asperger syndrome

Abstract This study aims to apply the Gricean theory of conversational cooperation to the example of inferential meaning in the oral speech of children with pragmatic deficit. Firstly, the analysis pays attention to the use of tropic inferences and particularized implicatures in conversation. Secondly, it focuses on the degree of maintenance or flouting with regard to conversational maxims. On average, study participants are 11.15 years old and possess a confirmed clinical diagnosis of Asperger syndrome. Results suggest a rare understanding and production of tropic inferences and particularized implicatures in dialogues, as well as the systematic application of the maxim of quality, the generalized non-fulfilment of the maxim of quantity and different degrees of fulfilment according to the remaining maxims.

POSSIBILITIES OF SUPPORT OF SPECIAL NEEDS STUDENTS AT THE GRADUATION EXAM - CASE STUDY OF A STUDENT WITH ASPERGER SYNDROME FOCUSING ON THE MODIFICATION OF GRADUATION EXAM CONDITIONS

The aim of the paper is the theoretical anchoring of the autism spectrum disorder focusing mainly on the Asperger syndrome, as well as the classification of disorders according to the International Statistical Classification of Diseases (ICD-10) and the Diagnostic and Statistical Manual (DSM-V). The paper contains an overview of the legal regulations related to the possible modifications of the common part of the graduation exam. The research part is based on qualitative methodology, it includes a case study. Based on an intentional selection (age and diagnosis), a student with Asperger syndrome was chosen for the case study, who applied at the educational support center for the modification of the graduation exam conditions. Regarding the data collection, the research methods included a semi-structured interview with the legal representatives (with the consent of the student of age), and a class teacher, and the study of the documents kept in the educational support center. The research part contains information on the personal and schooling history, as well as on the symptoms reflecting the diagnostic dyad. The conclusion offers an overview of the specific support measures provided to the student for the common part of the national graduation exam. The aim of the study is to explore whether the symptoms of the Asperger syndrome diagnosis reflected in the deficiencies at school may be fully compensated through the modification of the graduation exam conditions.

Perfil comunicativo y de adaptación social en población infantil con trastornos del espectro autista: nuevo enfoque a partir de los criterios del DSM-5

Following the adoption of the new international diagnosis classification from the Diagnostic and Statistical Manual (DSM-5), autism spectrum disorder (ASD) has been established as a dimensional category that includes other disorders that were previously considered as separate entities. Previous research has shown that some people with this disorder exhibit different communicative and linguistic profiles. Therefore, contradictory results could be found among people who receive the same diagnosis. To distinguish structural language aspects (expression and comprehension), interactive aspects (pragmatics), and social adaptation between children with an ASD-level 1 of support and children with typical development. Seventeen children with Asperger syndrome (according to the DSM-IV-TR), and 20 children with typical development between 7 and 12 years old. We have equated diagnosis of Asperger syndrome with ASD-level 1 of support. We have evaluated intelligence quotient, communication, and social adaptation with direct and indirect standardized parental scales. We have found significant differences in comprehension (p = 0.025), interaction (p = 0.001), and social adaptation (p = 0.001) between the two groups. Subjects with ASD-level 1 of support demonstrate an average intelligence quotient, and good expressive structure (syntax and semantic level), which may be different from other children who receive the same diagnosis, due to the wide heterogeneity of the disorder. Nevertheless, our subjects have problems related to comprehension of grammar structure, pragmatics, and social adaptation. These difficulties could be related to emotional and social problems.

Asperger syndrome, internet and fantasy versus reality – a forensic case study

Purpose People with Autistic Spectrum Disorder (ASD) are known to have difficulties in their social communication and interaction. The internet is a twenty-first century phenomenon that provides such individuals with a world in which they can exist without the awkwardness of face-to-face contact. The purpose of this paper is to start to illustrate the high risks that can occur when the internet is used as the main forum for interaction in individuals who are socially impaired. Design/methodology/approach This paper provides a brief summary of literature in relation to ASD and risk of offending behaviour followed by a case study of a young man with a diagnosis of Asperger syndrome who was convicted of conspiracy to murder. Findings This paper concludes that possible deficits in central coherence, theory of mind and social skills, combined with extensive periods of time spent alone on the internet forums and a late diagnosis of ASD, may place individuals at risk of committing a serious offence. Originality/value This paper highlights the difficulties that people with Autism may have in separating fantasy from reality and the high level of risk that can occur as a result.

Substance use disorder in Asperger syndrome: An investigation into the development and maintenance of substance use disorder by individuals with a diagnosis of Asperger syndrome

BackgroundRecent research has suggested that the prevalence of problematic substance use within the Asperger syndrome population has previously been underestimated. Furthermore, there is some indication that problematic substance use might take place to manage the traits of Asperger syndrome; however this possibility has yet to be examined in detail. This study aimed to address this omission by exploring individuals’ perceptions of their substance use in relation to their diagnosis of Asperger syndrome. MethodsEight participants were recruited from either a specialist Asperger syndrome service or a drug and alcohol service. Participants were interviewed regarding their views of which factors led to their development and maintenance of problematic substance use, specifically in relation to their experience of having been diagnosed with Asperger syndrome. Thematic analysis was conducted on the interview transcripts. ResultsSix main themes were identified: self-medication; social facilitation; discrepancy between need and support; defining problematic substance use; substance use of peers, and recreational use of substances. The two themes of social facilitation and self-medication are focused on within this paper as they most closely reflect the more prominent bodies of literature in relation to the research aim. ConclusionsParticipants reported that substances were used to act as a social facilitator to compensate for social deficits by increasing confidence in social settings and increasing participants’ ease with which they communicate. The self-medication of psychological distress was reported and was associated with depression, anxiety and sleep difficulties. The study ends with a reflection on the method of data collection, the implications for clinical practice and suggestions for future research.

Adults’ Experience of an Asperger Syndrome Diagnosis

This study explores the impact on 74 adults attending an Asperger syndrome diagnosis clinic. Feedback forms containing quantitative and qualitative measures were completed 3 months post-assessment. Qualitative responses were analyzed using thematic content analysis. Regarding questions about their emotional response, participants reported themes of “Relief,” “Feeling better about self,” “Mixed feelings,” “No clear feelings,” and “Negative feelings.” Regarding the impact of the diagnosis on their lives, participants reported themes of “Understanding and explanation,” “Self-acceptance,” “Social interaction,” and “Support.” A “sub-clinical threshold” group reported a theme of “Diagnostic disappointment” relating to their experience of not receiving a full diagnosis. There were no differences between pre- and post-assessment on standardized measures of anxiety, depression, or satisfaction with life. However, on a self-report Likert-type scale, participants who received a full diagnosis reported a significantly more positive effect of the diagnosis on their lives, compared with those who did not.

Asperger syndrome and schizophrenia: Overlap of self-reported autistic traits using the Autism-spectrum Quotient (AQ)

Background: In clinical practice, the differential diagnosis of Asperger syndrome (AS) versus schizophrenia can be a challenge. Some self-report instruments—such as the Autism-spectrum Quotient (AQ)—have been portrayed as proxies for the diagnosis of AS. However, it has not been demonstrated to what extent autistic traits—as measured by the AQ—separate AS from schizophrenia. Aim: To examine the AS–schizophrenia discriminating ability of the AQ. Method: The AQ is a 50-item self-administered questionnaire (with score range 0–50) for measuring “autistic traits” in adults. Here, it was completed by 136 individuals: 36 with schizophrenic psychosis, 51 with AS and 49 non-clinical comparison cases. A receiver operating characteristic (ROC) analysis for the total AQ score was performed to examine the discriminating power of the instrument. Result: Both individuals with schizophrenia and individuals with AS scored significantly higher on AQ than the non-clinical group. The mean total AQ score (± standard deviation) of the AS group (26.7 ± 8.9; range 9–44) was significantly higher than that of the schizophrenia group (22.7 ± 6.2; range 10–35) (P = 0.041). However, when using the full Likert scale for scoring, the difference did not reach significance. In the ROC analysis of total AQ scores for AS versus schizophrenia, the area under the curve (AUC) was 0.65 (P = 0.02). Conclusion: Although mean AQ scores separated AS and schizophrenia at a group comparison level, significant overlap of AQ scores across the two diagnostic groups clearly reduces the discriminating power of the AQ in the separation of schizophrenia from AS.

Asperger syndrome in males over two decades: stability and predictors of diagnosis.

To examine the diagnostic stability of a childhood diagnosis of Asperger Syndrome (AS) into adulthood in a prospective longitudinal study, and identify the predictors of stability. One hundred males with AS diagnosed in childhood (T0) according to Gillberg's AS criteria, were followed up prospectively into adulthood over an average of 19years (range 13-26years). Fifty males (mean age 30years) participated in this second follow-up (T2) of the cohort. Seventy-six had participated in a previous follow-up (T1) at mean age 22years (47 participated in both follow-ups). Diagnosis at T2 was assessed using three sets of diagnostic criteria (Gillberg's AS criteria, DSM-IV Pervasive Developmental Disorder (PDD) and DSM-5 Autism Spectrum Disorder (ASD) criteria) and compared to previous assessments. Background predictors of diagnostic stability were analyzed. General functioning at T2 was assessed and compared to T1. There was a decline in the stability of AS diagnosis over time, the rate dropping from 82% at T1 to 44% at T2, when using the Gillberg criteria. There was also a significant decrease in the rate of cases fulfilling any PDD diagnosis according to the DSM-IV, from 91% at T1 to 76% at T2 in the 47 cases followed up twice. Severity of autism spectrum symptoms at T1 was the main predictor of diagnostic stability at T2. Twenty percent of those meeting criteria for a PDD diagnosis according to DSM-IV, did not meet DSM-5 ASD criteria although they had marked difficulties in everyday life. Asperger Syndrome, when considered as an ASD/PDD diagnosis, was fairly stable into adulthood, but there was a significant increase over time in cases no longer meeting criteria for an ASD diagnosis according to the DSM-IV, or AS according to the Gillberg criteria. Cases with a stable diagnosis showed significantly more core ASD symptoms in adolescence/young adulthood.

Answers to Your DSM-5 Questions

Answers to Your DSM-5 Questions

The Investigation and Differential Diagnosis of Asperger Syndrome in Adults

As a result of the increased public interest in autism spectrum disorders (ASD), certain core manifestations of ASD--impaired social interaction and communication, bizarre interests--are now commonly recognized as being typical of autism, not only in children, but in adults as well. More often than before, general practitioners, neurologists, and psychiatrists find themselves being asked whether a patient is suffering from previously unrecognized Asperger syndrome (AS). The prevalence of ASD is estimated at 1%, and the ratio of diagnosed to undiagnosed cases at about 3:2. Little is known about the diagnostic evaluation of AS in adulthood. We selectively searched the Medline database for pertinent literature, paying special attention to diagnostic manuals and to the guideline of the United Kingdom's National Institute for Health and Care Excellence (NICE). Centrally important aspects of the diagnosis of AS include an assessment of the patient's ability to assume the emotional perspectives of others, non-verbal modes of expression, repetitive behavior patterns, and childhood social behavioral history. The autism quotient (AQ) is now established as a simple but nonspecific screening test. Up to 70% of all affected adults have comorbid disturbances, most often depression and anxiety disorders. The differential diagnosis includes personality disorders, anxiety disorders, obsessive-compulsive disorder, and attention deficit-hyperactivity disorder. The diagnostic assessment should proceed in stepwise fashion, starting from simple screening in primary care and then moving on to evaluation of the suspected diagnosis by a mental health care specialist, followed by extensive further investigation in an outpatient clinic specifically devoted to patients with autism spectrum disorders. The diagnostic assessment of autism in adults requires knowledge of the core and accompanying manifestations of autism and of their differential diagnoses. More research is needed for the development of further screening tests and the precise determination of diagnosis rates, differential diagnoses, nd comorbidities.

Attitude and risk of substance use in adolescents diagnosed with Asperger syndrome

BackgroundAdolescence is a stage of development with increased risk of drug use. Individual personality traits are among those factors that influence the onset of substance use in adolescence and its psychiatric comorbidity. Little research has been done on the comorbidity between substance abuse risk and Asperger syndrome, and none specifically in adolescence. The objective of this study is to assess the risk of drug use by adolescents with Asperger syndrome and compare it with that risk in control subjects. A secondary objective was to analyze the personality factors that may be associated with substance use in the same two groups. MethodsWe used three self-administered questionnaires, one for drug risk assessment (FRIDA) and the other two for personality trait assessment (MACI and SSS-V). ResultsAdolescents diagnosed with Asperger syndrome are at less risk for drug use derived from family and access to drugs factors. Subjects with Asperger syndrome did score higher on introversive, inhibited, doleful, and borderline tendency prototypes than healthy controls, and scored lower on all sensation-seeking traits. Being male, a diagnosis of Asperger syndrome, and unruly, introversive, and sensation-seeking traits were all independently associated with the risk of drug abuse. ConclusionsBoth identified personality factors and other variables associated with the Asperger syndrome contribute to the low risk of drug abuse observed in this population. Exploring protective factors for drug use in these subjects may prove useful for interventions with adolescents at risk for consumption.

Prevalence of Asperger syndrome among patients of an Early Intervention in Psychosis team

There is a lack of systematic studies into comorbidity of Asperger syndrome and psychosis. To determine the prevalence of Asperger syndrome among patients of an early intervention in psychosis service. This study was a cross-sectional survey consisting of three phases: screening, case note review and diagnostic interviews. All patients on caseload (n = 197) were screened using the Autism Spectrum Disorder in Adults Screening Questionnaire. The case notes of patients screened positive were then reviewed for information relevant to Asperger syndrome. Those suspected of having Asperger syndrome were invited for a diagnostic interview. Thirty patients were screened positive. Three of them already had a diagnosis of Asperger syndrome made by child and adolescent mental health services. After case note review, 13 patients were invited to interview. Four did not take part, so nine were interviewed. At interview, four were diagnosed with Asperger syndrome. In total, seven patients had Asperger syndrome. Thus, the prevalence rate in this population is at least 3.6%. The results suggest that the prevalence of Asperger syndrome in first-episode psychosis is considerably higher than that in the general population. Clinicians working in early intervention teams need to be alert to the possibility of Asperger syndrome when assessing patients.

An Evaluation of the EQUIP Treatment Programme with Men who have Intellectual or Other Developmental Disabilities

The Equipping Youth to Help One Another Programme (EQUIP) was designed for young offenders to address a developmental delay in moral reasoning, distorted cognitions and social skills. The present authors undertook a single case series study and piloted an adapted version of the EQUIP programme with three men with intellectual disabilities and four men with a diagnosis of Asperger Syndrome, all of whom were detained in a medium-secure forensic unit for people with intellectual disabilities. Treatment was delivered over a 12-week period, and participants took part in four-one-hour sessions per week. The results suggested that treatment was successful at increasing moral reasoning ability, reducing distorted cognitions and improving ability to choose effective solutions to problems. However, treatment did not have a significant effect upon anger. The EQUIP programme is a promising treatment, but further research is needed to investigate its effectiveness with men with intellectual or other developmental disabilities.

Referral pattern and special interests in children and adolescents with Asperger syndrome: a Turkish referred sample

To investigate the most frequent reasons for referral, the most common special interests, age at first referral to a mental health service, and the age of diagnosis in children and adolescents with Asperger syndrome living in Turkey. This study includes 61 children and adolescents diagnosed with Asperger syndrome using strict DSM-IV criteria. The mean age at first referral was 7.9 whereas the mean age when Asperger syndrome was diagnosed was 9.9, which is compatible with other studies. The most frequent reasons for the first referral were attention deficits, hyperactivity, and academic failure, and the most common special interest area was "electronic devices, computer, and technical interests". The types of special interests and referral reasons in our Asperger syndrome sample are very similar to the interest areas and referral reasons of individuals with Asperger syndrome from developed western countries indicating the universality of symptoms. It could be concluded that children and adolescents with Asperger syndrome may refer to mental health services with a variety of symptoms; therefore, it is important to make a detailed assessment of social difficulties especially in school-age children and adolescents for the differential diagnosis of Asperger syndrome.