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A family history study of Asperger syndrome.

Asperger syndrome (AS) is a childhood-onset disorder often described as a mild variant of autism. Although classified as a distinct disorder in the DSM-IV, its overlap with autism continues to be a matter of ongoing debate. While the family genetic origins of autism are well established, few studies have investigated this topic in AS using current operational criteria. In this report, we examined the family psychiatric history of 58 subjects with AS diagnosed according to DSM-IV criteria (48 males; mean age 13.34; mean full scale IQ 104.87). All subjects had a history of mild autistic social deficits; focused special interests; normal level of intelligence; and an odd and often pedantic manner of speaking. None had a previous diagnosis of autism. Of the 58 subjects with Asperger syndrome, three had first degree relatives with AS; nine (15%) had a family history of schizophrenia; and 35 (60%) had a family history of depression. Of the 64 siblings, four had a diagnosis of AS and none of autism. Compared with a group of 39 subjects with normal intelligence autism (high functioning autism, HFA; 33 males; mean age 15.34; mean full scale IQ 85.89) subjects with AS were more likely to have relatives with depression; schizophrenia; and the broader autistic phenotype. Possible reasons for and implications of these findings are discussed.

Adolescent↗

[A 13-year-old-girl with Pickwickian syndrome and Asperger syndrome].

We reported a 13-year-old girl with Pickwickian syndrome and Asperger syndrome. The chief complaint on admission was apnea attacks during sleep. She had severe obesity. Whole night polysomnography showed that the apnea attacks occurred during light and REM sleep, and that slow wave sleep and REM sleep volumes were decreased. These findings were the same as those on adult cases. Weight control was very difficult because of Asperger syndrome.

Adolescent↗

Genome-wide scan for loci of Asperger syndrome.

Asperger syndrome (AS), characterised by inadequate social interaction, lack of empathy and a dependence of routines and rituals, is classified as belonging to the autism spectrum disorders (DSM-IV and ICD-10). Although the prevalence of AS has been estimated to range from 0.3 up to 48.4 per 10 000, the phenotype still remains relatively unrecognised by clinicians. Several reports, including the original description by Hans Asperger (1944), have suggested that AS has a strong genetic component. Here, we have performed a genome-wide scan on Finnish families ascertained for AS with a strictly defined phenotype. In the initial scan, Z(max)>1.5 was observed on nine chromosomal regions, 1q21-22, 3p14-24, 3q25-27, 4p14, 4q32, 6p25, 6q16, 13q31-33 and 18p11. In the fine mapping stage, the highest two-point LOD scores were observed on chromosomes 1q21-22 (D1S484, Z(max dom)=3.58), 3p14-24 (D3S2432, Z(max dom)=2.50) and 13q31-33 (D13S793, Z(max dom)=1.59). The loci on 1q21-22 and 3p14-24 overlap with previously published autism susceptibility loci, and the loci on 1q21-22 and 13q31-33 overlap with the reported schizophrenia susceptibility loci. The present study is the first genome-wide screen in AS and therefore replication data sets are needed to evaluate further the significance of the AS-loci identified here.

Asperger Syndrome↗

Neurophysiological evidence for cortical discrimination impairment of prosody in Asperger syndrome.

Asperger syndrome (AS), belonging to the autism spectrum of disorders, is one of the pervasive developmental disorders. Individuals with AS usually have normal development of formal speech but pronounced problems in perceiving and producing speech prosody. The present study addressed the discrimination of speech prosody in AS by recording the mismatch negativity (MMN) and behavioural responses to natural utterances with different emotional connotations. MMN responses were abnormal in the adults with AS in several ways. In these subjects, fewer significantly elicited MMNs, diminished MMN amplitudes, as well as prolonged latencies were found. In addition, the MMN generator loci differed between the subjects with AS and control subjects. These findings were predominant over the right cerebral hemisphere. These results show impaired neurobiological basis for speech-prosody processing at an early, pre-attentive auditory discrimination stage in AS.

Adult↗

Sleep in young adults with Asperger syndrome.

Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders. Both children and adults with AS have subjective impairment in the initiation and continuity of sleep, and studies using objective assessment are sparse. Twenty young AS adults with frequent complaints of low sleep quality were compared to 10 age-, gender- and education-matched controls without sleep complaints using polysomnography and spectral power analysis of slow-wave sleep. AS subjects displayed a similar polysomnographic profile as compared with controls. In spectral power analysis, a statistically nonsignificant trend towards decreased relative delta power and increased theta power in slow-wave sleep was found in the AS group. It seems that nonorganic insomnia, due to anxiety inherent in AS, is responsible for the low sleep quality in these subjects.

Adult↗

Seizures and extrapyramidal symptoms in a patient with Tourette's syndrome, Asperger's syndrome, and multiple sclerosis treated with interferon beta-1a and clomipramine.

Seizure activity is a known complication associated with multiple sclerosis; however, it may also result from side effects of the treatments for the disease. A 21-year-old man with Tourette's syndrome, pedophilia, Asperger's syndrome, and multiple sclerosis experienced seizures after receiving therapy with interferon beta-1a. Adjustments in his drug regimen led to the discovery of pseudoparkinsonism and other extrapyramidal symptoms. This case report illustrates how pharmacodynamic properties of drugs can complicate the treatment of neurologic disorders. Clinicians must be aware of the delicate balance between the signs and symptoms of disease states and the effects of drugs.

Adult↗

Independent replication and initial fine mapping of 3p21-24 in Asperger syndrome.

BACKGROUND: Asperger syndrome is characterised by abnormalities in social interaction as well as repetitive and stereotyped behaviours and interests. The trait is thought to display complex inheritance, but in a subset of families the inheritance resembles the autosomal dominant model. Linkage to 3p14-24 has recently been reported in Asperger syndrome in Finnish families with a maximum multipoint NPL(all) of 3.32 at D3S2432. METHODS: We have replicated linkage findings to 3p21-24 in 12 new extended Asperger syndrome families. Linkage analyses were performed separately for the 12 new families, and linkage and association analyses were also performed jointly with data from the original genome-wide screen. RESULTS: Best two point and multipoint logarithm of the odds (LOD) scores in analyses of both data sets were obtained at D3S2432 (NPL(all) = 3.83) with both subsets of families contributing to linkage. Association analysis of the combined data set produced a trend towards association with D3S2432 and D3S1619. CONCLUSIONS: This study further validates 3q21-24 as a candidate region for Asperger syndrome.

Asperger Syndrome↗

Insomnia is a frequent finding in adults with Asperger syndrome.

BACKGROUND: Asperger syndrome (AS) is a neurodevelopmental disorder belonging to autism spectrum disorders with prevalence rate of 0,35% in school-age children. It has been most extensively studied in childhood while there is scarcity of reports concerning adulthood of AS subjects despite the lifelong nature of this syndrome. In children with Asperger syndrome the initiation and continuity of sleep is disturbed because of the neuropsychiatric deficits inherent of AS. It is probable that sleep difficulties are present in adulthood as well. Our hypothesis was that adults with AS suffer from difficulty in initiating and maintaining sleep and nonrestorative sleep (insomnia). METHODS: 20 AS without medication were compared with 10 healthy controls devoid of neuropsychiatric anamnesis. Clinical examination, blood test battery and head MRI excluded confounding somatic illnesses. Structured psychiatric interview for axis-I and axis-II disorders were given to both groups as well as Beck Depression Inventory and Wechsler adult intelligence scale, revised version.Sleep quality was assessed with sleep questionnaire, sleep diary during 6 consecutive days and description of possible sleep problems by the participants own words was requested. RESULTS: compared with controls and with normative values of good sleep, AS adults had frequent insomnia. In sleep questionnaire 90% (18/20), in sleep diary 75% (15/20) and in free description 85% (17/20) displayed insomnia. There was a substantial psychiatric comorbidity with only 4 AS subject devoid of other axis-I or axis-II disorders besides AS. Also these persons displayed insomnia. It can be noted that the distribution of psychiatric diagnoses in AS subjects was virtually similar to that found among patient with chronic insomnia. CONCLUSIONS: the neuropsychiatric deficits inherent of AS predispose both to insomnia and to anxiety and mood disorders. Therefore a careful assessment of sleep quality should be an integral part of the treatment plan in these individuals. Conversely, when assessing adults with chronic insomnia the possibility of autism spectrum disorders as one of the potential causes of this condition should be kept in mind.

Adult↗

Left occipital hypoperfusion in a case with the Asperger syndrome.

The Asperger syndrome, a less severe variant of autism, has drawn increasing interest among child psychiatrists. Cerebral blood flow studies with autistic subjects have failed to reveal consistent findings. We are reporting a case with the Asperger syndrome, whose single photon emission computed tomography showed left occipital hypoperfusion.

Adult↗

Emanuel Miller lecture: confusions and controversies about Asperger syndrome.

BACKGROUND: Hans Asperger drew attention to individuals who show the core symptoms of autism in the presence of high verbal intelligence. METHODS: A review of the literature explores current issues concerning the diagnosis and nature of Asperger syndrome. RESULTS: The behavioural and neurophysiological evidence to date suggests that Asperger syndrome is a variant of autism typically occurring in high-functioning individuals, and not a separate disorder. One of the problems of diagnosis is that the typical impairment of social communication may be difficult to identify in early childhood, and can be camouflaged in adulthood by compensatory learning. The range and nature of the social impairments in Asperger syndrome are still in need of investigation, but appear to be less severe than in autism. Experimental evidence suggests that individuals with Asperger syndrome may lack an intuitive theory of mind (mentalising), but may be able to acquire an explicit theory of mind. Brain imaging studies pinpoint a network that links medial prefrontal and temporal cortex as the neural substrate of intuitive mentalising. This network shows reduced activation and poor connectivity in Asperger syndrome. While some individuals with Asperger syndrome have written eloquently about their lives, their ability to talk about their own emotions appears to be impaired (alexithymia). This impairment may be linked to depression and anxiety, which is common in adulthood. Little is as yet known about the often considerable cognitive strengths in Asperger syndrome, or about the difficulties observed in higher-level executive skills. CONCLUSIONS: Studies are needed that define the developmental course of the disorder and the nature of the strengths and weaknesses in both social and non-social domains. This requires more sensitive assessment instruments than are currently available. Questions about the prevalence of Asperger syndrome, about associated and secondary features, and about optimal education and management, urgently call for such studies.

Adolescent↗

Asperger syndrome revisited.

Asperger syndrome (AS) is a disorder on the continuum of autistic spectrum disorders characterized by a lack of social reciprocity and empathy, and severe difficulties in social integration. Controversy remains as to what constitutes AS and whether it should be declared a separate disease or higher-functioning autism. This review discusses the contributions made by Hans Asperger and Leo Kanner in first delineating the condition, and examines the syndrome's incidence, prevalence, and etiologies. Recent studies using neuroimaging are described, along with current diagnostic and treatment options.

Affective Symptoms↗

Is clumsiness a marker for Asperger syndrome?

Although Asperger syndrome (AS) has been included in the ICD-10 as a distinct category within the pervasive developmental disorders, it is still unclear to what extent it differs from normal-intelligence autism (high-functioning autism; HFA). Persons with AS are said to be particularly clumsy. To test the hypothesis that clumsiness can reliably distinguish AS from autism, the present authors compared 11 patients with AS (ICD-10; 10 males; mean age, 13.6 years; mean IQ, 98) with nine patients with HFA (ICD-10/DSM-III-R; eight males; mean age, 12.9 years; mean IQ, 84). Clumsiness was assessed by the Bruininks-Oseretsky test. Both groups showed problems with coordination and the distribution of standard scores was virtually identical. This suggests that motor clumsiness, as measured by tests of coordination, may not reliably distinguish AS from HFA. However, qualitative differences may occur between the two groups in the manner in which movements are performed. Further research with larger samples may elicit differences into the pattern of motor deficits that occur in autism and AS.

Adolescent↗

Increased presynaptic dopamine function in Asperger syndrome.

The etiology of Asperger syndrome is essentially unknown, but abnormality of the dopamine system has been shown in clinically overlapping disorders. The present study was designed to investigate the presynaptic dopamine function in Asperger syndrome. Eight healthy, drug-free males with Asperger syndrome and five healthy male controls were examined with positron emission tomography using 6-[18F]fluoro-L-DOPA ([18F]FDOPA) as a tracer. In the Asperger syndrome group, the [18F]FDOPA influx (Ki) values were increased in the striatum, i.e. in the putamen and caudate nucleus and in the frontal cortex. The results indicate that the dopamine system is affected in subjects with Asperger syndrome. Partially similar results have also been obtained in schizophrenia, suggesting an overlap not only of the clinical features but also of pathogenesis.

Adult↗

Asperger syndrome: to be or not to be?

PURPOSE OF REVIEW: Asperger syndrome is a pervasive developmental disorder characterized by impairments in social interactions, such as nonverbal behaviors, failure to develop peer relationships, and lack of social reciprocity with restricted, repetitive and stereotyped patterns of interest or behavior. The diagnosis of Asperger syndrome is increasingly common, and it is timely to review its phenomenology and treatment. RECENT FINDINGS: As there is a growing public awareness and acceptance of Asperger syndrome, clinical research has produced mixed results that do not clearly discriminate Asperger syndrome from high-functioning autism. However, research does indicate that children with pervasive developmental disorder achieve better outcomes when diagnosis is made early and appropriate community supports can be marshaled. SUMMARY: The history and phenomenology of Asperger syndrome is briefly reviewed, and recent literature relating to assessment and treatment is highlighted.

Asperger Syndrome↗

An exploration of causes of non-literal language problems in individuals with Asperger Syndrome.

Individuals with Asperger Syndrome (AS), a high functioning variant of Autism, are often noted to possess intact language ability, yet fail to use this language capacity to engage in interactive communication. This difficulty using language in a social context has been referred to as a deficit in pragmatic language. In particular, difficulty understanding nonliteral language devices, such as irony has been observed. This paper examines the veracity of two theories that have attempted to explain the causes of pragmatic language difficulties in individuals with Asperger Syndrome; the theory of Weak Central Coherence (WCC) and Social Inference theory. Fourteen young adults with AS and 24 age-matched controls were assessed on cognitive tasks measuring WCC processes, social inference or Theory of Mind ability, and the ability to interpret ironic remarks. Results indicated that the ability to understand the belief states of others is critical to understanding ironic language in AS.

Adolescent↗

An experimental investigation of the phenomenology of delusional beliefs in people with Asperger syndrome.

There is evidence that Asperger syndrome is associated with delusional beliefs. Cognitive theories of delusions in psychosis literature propose a central role for impaired theory of mind ability in the development of delusions. The present study investigates the phenomenology of delusional ideation in Asperger syndrome. Fortysix individuals with Asperger syndrome participated and were found to have relatively high levels of delusional ideation, primarily grandiose or persecutory. Factors associated with delusional belief were anxiety, social anxiety and self-consciousness, but not theory of mind ability or autobiographical memory. The findings indicate that delusional belief is a prominent feature in Asperger syndrome, but do not support a mentalization based account. A preliminary cognitive model of delusions in Asperger syndrome is proposed and the theoretical and clinical implications of the findings are discussed.

Adolescent↗

Asperger syndrome in children.

PURPOSE: To review Asperger syndrome characteristics, assessment tools, interventions, outcomes, and the role of the nurse practitioner in diagnosing and caring for children with Asperger syndrome. DATA SOURCES: Review of published literature on and diagnostic criteria of the condition. CONCLUSIONS: Asperger syndrome is a pervasive developmental disorder or an autism spectrum disorder that is thought to have an incidence higher than that of autism. Asperger syndrome is different from autism, with a lack of delayed language as the most distinct difference between Asperger syndrome and autism. IMPLICATIONS FOR PRACTICE: Because of the importance of early diagnosis of Asperger syndrome for outcome improvement, screening at all well-child visits from infancy on is of utmost importance to primary care pediatric nurse practitioners. With early diagnosis, timely intervention is possible, which is proven to show improvement in outcomes.

Asperger Syndrome↗

The Cambridge Mindreading (CAM) Face-Voice Battery: Testing complex emotion recognition in adults with and without Asperger syndrome.

Adults with Asperger Syndrome (AS) can recognise simple emotions and pass basic theory of mind tasks, but have difficulties recognising more complex emotions and mental states. This study describes a new battery of tasks, testing recognition of 20 complex emotions and mental states from faces and voices. The battery was given to males and females with AS and matched controls. Results showed the AS group performed worse than controls overall, on emotion recognition from faces and voices and on 12/20 specific emotions. Females recognised faces better than males regardless of diagnosis, and males with AS had more difficulties recognising emotions from faces than from voices. The implications of these results are discussed in relation to social functioning in AS.

Adolescent↗