A family study of symbolic learning and synaptic plasticity in autism spectrum disorder.

The current study presents a male with autism spectrum disorder (ASD) and a 3q29 deletion, and three healthy first-degree relatives. Our magnetic resonance imaging (MRI) dataset included a healthy control subset. We describe a comprehensive multimodal approach, including equivalence class formation, neurocognitive testing, MRI, and electroencephalography (EEG)-based cortical plasticity, which can provide new insights into socio-communicative and learning impairments and neural underpinnings in ASD.

Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.

Background: Genetic risk variants in the hemizygous allele may influence neuropsychiatric manifestations and clinical course in 3q29 deletion carriers.

Methods: In-depth phenotypic assessment in two deletion carriers included medical records, medical, genetic, psychiatric and neuropsychological evaluations, brain MRI scan and EEG. Blood samples were analyzed for copy number variations, and deep sequencing of the affected 3q29 region was performed in patients and seven first-degree relatives.

Health and disease in adults with Down syndrome.

Background: The increasing life expectancy of persons with Down syndrome calls for a knowledge of conditions that frequently occur in adults with the syndrome and of which health personnel should be particularly aware.

Method: The article is based on a literature search in PubMed and the authors' clinical experience with the patient group.

Results: Altered immune system function, muscular hypotonia, dysmorphic otolaryngologic features and premature ageing contribute to health problems.

Altered dopamine D2 receptor function in fibromyalgia patients: a neuroendocrine study with buspirone in women with fibromyalgia compared to female population based controls.

Background: To what extent fibromyalgia belongs to affective spectrum disorders or anxiety spectrum disorders remains disputed. Buspirone induces a hypothermic response, which most likely is due to 5-HT(1A) autoreceptor stimulation, and growth hormone (GH) release, which probably is related to postsynaptic 5-HT(1A) receptor stimulation. The prolactin response to buspirone has been suggested to be mediated through dopamine (DA) antagonistic effects.

Mutilation anxiety differs among females with fibromyalgia and functional dyspepsia and population controls.

Background: Studies using self-report rating scales suggest a considerable overlap regarding symptom complaints in patients with fibromyalgia (FM) and functional dyspepsia (FD), while clinical assessments point to important psychological differences.

Purpose: To test the hypothesis that measurement of psychological state by means of content analysis of speech will demonstrate differentiation between the two patient groups and between patients with these disorders and age-matched population-based random sample controls.

Method: The Giessener Symptom Complaints Checklist assessed somatic complaints.

[Whiplash injuries--a psychosomatic perspective].

Background: Psychosocial impairment after whiplash injury could be extensive; presumably about 15% of whiplash patients suffer from long lasting disabling health problems and about 5% do not return to work.

Material And Methods: A PubMed search of all available literature on whiplash and whiplash-associated disorders was performed.

Results: Psychosocial impairment following whiplash injury is influenced by vulnerability factors, the biomechanical trauma and factors affecting symptom formation.

[Functional somatic diseases--a review].

Functional somatic illness is a clinical concept used to define medically unexplained somatic symptoms considered to express psychological distress. Functional somatic illness may express underlying psychiatric disorders (e.g.

Factors explaining variance in perceived pain in women with fibromyalgia.

Background: We hypothesized that a substantial proportion of the subjectively experienced variance in pain in fibromyalgia patients would be explained by psychological factors alone, but that a combined model, including neuroendocrine and autonomic factors, would give the most parsimonious explanation of variance in pain.

Methods: Psychometric assessment included McGill Pain Questionnaire, General Health Questionnaire, Hospital Anxiety and Depression Rating Scale, Eysenck personality Inventory, Neuroticism and Lie subscales, Toronto Alexithymia Scale, and Multidimensional Health Locus of Control Scale and was performed in 42 female patients with fibromyalgia and 48 female age matched random sample population controls. A subgroup of the original sample (22 fibromyalgia patients and 13 controls) underwent a pharmacological challenge test with buspirone to assess autonomic and adrenocortical reactivity to serotonergic challenge.