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Biomedical subjects

F Poustka

Publications and source records attributed to F Poustka.

At least 55 records · Page 3Linked to original sources
PubMed1996

The standardized diagnosis of autism, Autism Diagnostic Interview-Revised: interrater reliability of the German form of the interview.

The feasibility and reliability of the German form of the revised parental interview to diagnose autism (Autism Diagnostic Interview-Revised, ADI-R) was investigated in this study. Brief examples of the description of formerly and currently used diagnostic guidelines are given and the outline of the interview algorithm which establishes thresholds for inclusion criteria. An excellent-to-good reliability could be demonstrated for the main symptoms according to the classification rules of the ICD-10 and DSM-IV for a sample of autistic subjects at different ages and intellectual levels. The results approve the use of this interview for research and clinical purposes.

Adolescent↗
PubMed1996

Point mutation analysis of the FMR-1 gene in autism.

We have analysed all 17 exons of the human FMR-1 gene for mutations in autistic individuals using single-stranded conformational polymorphism (SSCP) analysis. We have identified three new polymorphisms. SSCP DNA fragment shifts were found for exons, 5, 10 and 11 in autistic individuals and in normal controls. Sequence analysis showed the exon 10 and 11 polymorphisms to result from base substitutions within introns, 14 and 73 bp downstream from the splice site respectively. In exon 5, a G to A base substitution at codon 138 has no effect on amino acid sequence. The intronic polymorphism adjacent to exon 10 was analysed amongst two groups of unrelated autistic individuals-one from the UK and one from Germany- and amongst a control population. Comparison of allele frequencies between Caucasian autism cases and Caucasian controls show a significant increase in the presence of the polymorphic intronic sequence 3' to exon 10 (Fisher's exact test, P = 0.01). The base change is at a position where it is unlikely to affect splicing of the FMR-1 transcript and is most likely a neutral variant that has only a spurious false positive association with autism. However further linkage disequilibrium analyses are justifiable. The positive association with autism should be explored in further samples to determine whether it has any validity as a genetic marker for autism.

Autistic Disorder↗
PubMed1996

[Typical configurations of psychosocial stress factors of psychiatrically conspicuous children and adolescents].

Typical configurations of psychosocial stressors in children and adolescents with psychiatric disorders. Abnormal psychosocial situations are strongly associated with psychiatric disorders in children and adolescents. They are significant risk factors, and sometimes play a causative role. Information about such situations can therefore serve as a basis for planning and implementation of therapeutic interventions. Up till now, however, there has been little evidence for the specificity of the relationship between psychosocial factors and psychiatric disorders. Therefore, in the present study cluster analysis was used to group a psychiatric population of children and adolescents by typical configurations of psychosocial stressors, and the subjects in these clusters were then compared with regard to age, gender, psychiatric disorders and level of intelligence. Five clusters were formed, with qualitative and quantitative differences. One cluster consists of cases with various psychiatric disorders but few psychosocial stressors or none at all. In the other four clusters, "parental handicap, mental disorder or deviation" and "anomalous parenting situation" are variables of key importance as one of them occurs in each cluster, together with different combinations of other psychosocial factors. In the one cluster where both of the previously mentioned key variables occur all of the additional factors also occur.

Adolescent↗
PubMed1995

Clinical evidence for genomic imprinting in bipolar I disorder.

The phenotypic indicators of the genomic imprinting model were applied to clinical psychopathology data on 100 bipolar (BP) I probands and their families. The paternal transmission was associated with a significantly younger age of onset of the BP illness in probands and a higher rate of affective disorders in first- and second-degree relatives. The effect of the sex of the transmitting parent on age of onset in probands decreased but remained significant when controlling for the effect of the probands' age at investigation. Probands' sex had no significant influence on their age of onset. The severity of the BP illness in probands in terms of number of illness episodes and annual frequency was not influenced by the sex of the transmitting parent.

Adolescent↗
PubMed1995

[The intelligence structure of autistic persons].

In a research project on the genetics of autistic disorders 115 subjects were examined. An autistic disorder was diagnosed in 102 of the subjects using the standardized Autism Diagnostic Interview (ADI; Le Couteur et al., 1989/ADI-R; Lord et al., 1994). The WAIS-R or WISC-R could be administered to 42 of the subjects. The mean full-scale IQ was 84.4, slightly below the range of normal intelligence. The mean verbal IQ (89.3) was considerably higher than the performance IQ (78.9). Analysis of the subtest patterns showed the highest scores to be in those subtests measuring knowledge of dates and facts and visuospatial abilities. The lowest scores were on subtests requiring an understanding of social relations and the ability to understand concrete social actions. This subtest pattern confirms results of other studies on the intelligence of individuals with autism and was independent of gender and level of intelligence. The subtest pattern appears to be specific for autistic disorder; it has been interpreted with reference to the theory of "weak central coherence" (Frith, 1989; Shah & Frith, 1993), which postulates that in autistic individuals stimulus perception and processing occurs independently of the general context. The results suggest that the differentiation between different types of autistic disorders should be abandoned in favor of a continuum of autistic disorders with differing degrees of severity.

Adolescent↗
PubMed1994

Association analysis of the dopamine D2 receptor gene in Tourette's syndrome using the haplotype relative risk method.

Comings et al. [1991: JAMA 266: 1793-1800] have recently reported a highly significant association between Tourette's syndrome (TS) and a restriction fragment length polymorphism (RFLP) of the dopamine D2 receptor gene (DRD2) locus. The A1 allele of the DRD2 Taq I RFLP was present in 45% of the Tourette patients compared with 25% of controls. We tried to replicate this finding by using the haplotype relative risk (HRR) method for association analysis. This method overcomes a major problem of conventional case-control studies, where undetected ethnic differences between patients and controls may result in a false-positive finding, by using parental alleles not inherited to the proband as control alleles. Sixty-one nuclear families encompassing an affected child and parents were typed for the DRD2 Taq I polymorphism. No significant differences in DRD2 A1 allele frequency were observed between TS probands, subpopulations of probands classified according to tic severity, or parental control alleles. Our data do not support the hypothesis that the DRD2 locus may act as a modifying gene in the expression of the disorder in TS probands.

Adolescent↗
PubMed1994

Human dopamine D4 receptor gene: frequent occurrence of a null allele and observation of homozygosity.

We report a null mutation in the first exon of the human dopamine D4 receptor (DRD4) gene. The mutation is predicted to result in a truncated non-functional protein and is the first natural nonsense mutation found in a human dopamine receptor gene. It occurs with a frequency of about 2% in the general population. The distribution of the mutation was found to be similar in healthy controls and patients suffering from psychiatric diseases which included schizophrenia, bipolar affective disorder and Tourette's syndrome, indicating that heterozygosity for this mutation in the DRD4 gene is not causally related to major psychiatric diseases. We also identified an adult male who is homozygous for this mutation. He shows no symptoms of major psychiatric illness, but he displays somatic ailments including acousticous neurinoma, obesity and some disturbances of the autonomic nervous system. Some of these symptoms might be related to the absence of functional DRD4 protein.

Alleles↗
PubMed1994

Coping with illness and coping with handicap during the vocational rehabilitation of physically handicapped adolescents and young adults.

Coping with illness and coping with handicap during the vocational rehabilitation of physically handicapped adolescents and young adults are given great consideration in rehabilitation centres. The mutual dependence of defence styles and ways of coping with serious illnesses are demonstrated in case vignettes 1 and 2. Defence processes can block coping with illness. In adolescents who are physically handicapped since birth, other body and self-representations are developed according to the form of handicap. After an accident or illness in later childhood or adolescence, new body and self-representations have to be built up in a way that corresponds to the changed physical circumstances (case vignette 3). This is often a lengthy and painful process of mourning. The extent to which the adolescent patient will be granted independence and autonomy from the family will influence the course of the illness itself. The dangers and prospects of lengthy rehabilitation processes are discussed. The necessary adjustments that physically handicapped adolescents have to make when they are admitted into a residential facility for the physically handicapped are described.

Adaptation, Psychological↗
PubMed1994

[Reliability and factorial validity of the Child Behavior Checklist--an analysis of a clinical and field sample].

The purpose of this study was to assess the reliability (internal consistency), the correlations of the scale scores and the factorial validity of the German version of the Child Behavior Checklist (CBCL). The analyses were performed in a sample of patients at two child and adolescent psychiatric facilities (N = 1653) and in a community sample (N = 1622). The analyses were based on the 1991 American version of the CBCL. The internal consistency of most of the scales was good to excellent (rtt > .80). The reliability of the scales "Withdrawn", "Somatic complaints" and "Social Problems" was not completely satisfactory (rtt > .70). The reliability of the syndrome scales "Thought Problems" and "Sex Problems" and the Competence Scales was unsatisfactory (rtt < .70). The internal consistency of the syndrome scales in the German and American samples was very similar. The correlations between the scales were predominantly in the lower range, with some in a medium range (rtt > .50). Factor analyses in the clinical sample confirmed that the syndrome scales had been well-designed. With the exception of the scales "Social Problems" and "Withdrawn", where the items have loadings on a common factor, the scales proved to be factorially valid.

Adolescent↗
PubMed1993

Autistic behaviour domains and their relation to self-injurious behaviour.

In order to find out if self-injury is associated with the autistic syndrome or at least to specific autistic behaviour patterns, 69 probands were examined and assessed according to the criteria of the Autism Diagnostic Interview according to IQ. We found a high prevalence of self-injurious behaviour among autistic individuals at age 4-5 but no positive correlation between self-injury and the different areas of autistic behaviour. Possible aetiological factors are discussed.

Adolescent↗
PubMed1991

[Differential diagnosis and therapeutic success in hyperkinetic syndrome].

Because of the problems in differential diagnosis of the hyperkinetic syndrome we tried to distinguish subgroups of the hyperkinetic syndrome and conduct disorders using the Multi-axial Classification Scheme for Psychiatric Disorders in Childhood and Adolescence. We studied 85 children during a routine diagnostic intake procedure at a child psychiatric outpatient unit. Of the children diagnosed as hyperkinetic 31 were treated using a multimodal treatment program. As expected, there were significant differences between the hyperkinetic children and those with other psychiatric disorders in the primary symptom areas of impulsivity and attention deficit, which can be measured reliably. Further variables helpful in differentiation were age, intelligence and presence of minimal cerebral dysfunction. Treatment outcome was associated with the type of psychosocial risk factors and the level of intelligence.

Affective Symptoms↗
PubMed1990

Annoyance and health risk caused by military low-altitude flight noise.

Effects of noise of low-flying military jet aircraft were investigated from demoscopic and epidemiological points of view. Areas with different low-altitude flight noise exposure were compared with one another as to subjective annoyance, casual blood pressure and ear symptoms. With the same energy equivalent sound pressure level (Leq), the subjective disturbance caused by military low-altitude flight noise was essentially greater than that due to ordinary flight noise (in the neighbourhood of civil airports). A comparison of several areas revealed that frequencies of ear symptoms (tinnitus lasting more than one hour and permanent hearing threshold shifts of greater than 30 dB) were higher only in areas where maximal flight noise levels considerably exceeded 115 dB (A) accompanied by rapid noise level increases. Blood pressure measurements yielded significantly higher values (group difference 9 mm Hg systolic) in girls living in these highly exposed areas. Acoustic limits are proposed with respect to public health.

Adolescent↗