Fragile-X carrier females: evidence for a distinct psychopathological phenotype?

The present study examined 35 mothers (29 premutation carriers) of children with fragile-X syndrome in measures of intelligence and psychiatric disorders by comparing them with two control groups: a) 30 mothers of children in the general population and b) 17 mothers of non-fra-X retarded children with autism. Premutation carriers had a higher frequency of affective disorders than mothers from the general population. Preliminary data indicate that normally intelligent premutation carriers of the fra-X genetic abnormality have a similar frequency of affective disorders (DSM-III-R criteria [APA, 1987]) than mothers of autistic children. Neither carriers of the premutation nor carriers of the f…

Assessment of frontal lobe functioning in schizophrenia and unipolar major depression.

This study has used neuropsychological tasks – Wisconsin Card Sort (WCST), Trail Making (TMT) A and B, Verbal Fluency, Digit Span – to compare acute and currently off-medication schizophrenics, patients with unipolar nonpsychotic major depression and healthy controls. Both patient groups differed significantly from healthy controls in their neuropsychological performance. Furthermore there was only little (quantitative) difference between schizophrenics and depressed patients in the frontal lobe associated tasks: WCST, TMT and Verbal Fluency. Depressed patients tended to perform worse than schizophrenics on Digit Span, a task hypothesized to involve other than frontal areas of the brain. Al…

Wisconsin Card Sorting Test: an indicator of vulnerability to schizophrenia?

The Wisconsin Card Sorting Test (WCST) is a neuropsychological test, hypothesized to be an indicator of dorsolateral prefrontal cortex (DLPFC) functioning. The performance of schizophrenic patients in our sample (off medication) was worse than the performance of healthy controls in all variables of the WCST, including perseverative responses (PR) as well as non-perseverative responses (NPR). The rate of perseverative and non-perseverative responses was neither a function of the severity of the illness (measured by SANS/SAPS scales) nor the duration of the disease. Healthy siblings of schizophrenic probands revealed more perseverative responses than healthy controls, but did not show any dif…

Schizophrenia and left hemisphere dysfunctions a controlled neuropsychological study in schizophrenics and their relatives

Personality traits as indicators of vulnerability to schizophrenia

Personality patterns in subjects at risk for affective disorders.

The main conclusions of this study on the familial links between personality patterns and affective disorders are: (1) The personality features with the greatest degree of symptomatic overlap with unipolar depression were more common among the first-degree relatives of probands with this diagnosis: thus dysthymic temperament and neuroticism are enhanced in this group of relatives compared to controls. Likewise personality features with a high degree of symptomatic overlap with bipolar affective disorder were more common among the first-degree relatives of probands with this diagnosis. Thus levels of dysthymic and cyclothymic temperament were elevated in this group of relatives compared to c…

A controlled family study in panic disorder.

Abstract There are only a few family studies in panic disorder. Although there is some evidence that panic disorder is familial, the exact figures of the familial risk for this disorder are at variance across different studies; the impact of comorbidity and of the gender of relatives is also unclear. Family studies in panic disorder controlling for the comorbidity in probands are therefore indicated. This study presents the morbid risks in families of 40 “pure” panic disorder probands (DSM-III-R) without a history of psychotic disorders, major depression or alcoholism compared with families of 80 controls recruited in the general population. The relative frequency of panic disorder (DSM-III…

Subclinical thought disorder in first-degree relatives of schizophrenic patients. Results from a matched-pairs study with the Thought Disorder Index

To assess the frequency and quality of formal thought disorder in schizophrenic patients and their first-degree relatives, a consecutive series of 36 unmedicated patients, 20 siblings of these patients and 37 normal control subjects were examined with Holzman's Thought Disorder Index (TDI). As a proof of the internal validity of this tool, the patients demonstrated significantly more thought disorder than the controls as measured by the TDI total score and various subscores, which proved the internal validity of this tool in a German-speaking sample. In addition, in a pairwise comparison with controls who were individually matched by age and sex the patients' siblings had a significantly hi…

Vulnerabilität für Schizophrenie: Entwicklung einer Modellvorstellung anhand von Familienstudien

Vulnerabilitatsmodelle fur schizophrene und affektive Storungen gehen davon aus, das sowohl klinische Storungen als auch subklinische Varianten und Normabweichungen durch dieselben disponierenden Faktoren evoziert werden. Die Starke der Vulnerabilitat (Disposition) zu einer Storung bildet sich auf einer Dimension ab, die durch die additive Wirkung verschiedener Ursachenbedingungen determiniert wird; die verschiedenen Auspragungsstufen auf dieser Dimension drucken sich in unterschiedlichen, aber qualitativ ahnlichen Verhaltensmustern aus und zwar so, das mit steigender Vulnerabilitatsstarke auch die Devianz dieser Verhaltensformen zunimmt. Die maximale Auspragungsstufe dieser Vulnerabilitats…

Cognitive functioning and anhedonia in subjects at risk for schizophrenia

This study investigated the performance of individuals with familiar loading of schizophrenia (healthy siblings of schizophrenic inpatients) on three neuropsychological tasks assumed to require frontal lobe functions: Trail Making Test (TMT), verbal fluency and Wisconsin Card Sorting Test (WCST). Healthy siblings of schizophrenics differed in performance from healthy controls not only on the WCST, but also on the Trail Making Test and the verbal fluency task. Furthermore, scores of physical anhedonia, assessed in a self-report rating scale (Chapman et al., 1976) were also significantly higher in the high risk group than in the control sample. However, healthy siblings of schizophrenics did …

Normabweichungen der Frontalhirnfunktion bei gesunden Angehörigen schizophrener Patienten

Verschiedene Untersuchungsmethoden (MRT, rCBF) weisen auf eine Assoziation zwischen frontalen Hirnarealen und der Schizophrenie hin. In diesem Zusammenhang ist jedoch ungeklart, ob die postulierte Beteiligung des Frontalhirns eine Folge oder ein pramorbides Charakteristikum der Schizophrenie darstellt.

Neuropsychological profiles of FMR-1 premutation and full-mutation carrier females

Abstract The present French–German investigation of fragile-X syndrome (fra-X) was undertaken to disentangle genetic from environmental effects on cognitive performance as assessed with the following measures: Wechsler Adult Intelligence Scale-Revised (WAIS-R), Wisconsin Card Sorting Test, Trail-Making Test, Tower of Hanai, Verbal Fluency Test, Stroop Test, short-term and consolidation memory, and the d2 task. Groups with different genotypes ( n =11 mothers with a full mutation in the FMR-1 gene of fra-X children; n =65 mothers with a premutation in the FMR-1 gene of fra-X children; n =18 siblings of these mothers with normal CGG repeats) and with different psychosocial stressors from fra-X…

Positive/negative symptomatology and experimental measures of attention in schizophrenic patients.

In a search for an external validation of the negative syndrome construct and the attentional impairment item on Andreasen's scale, 49 unmedicated schizophrenic patients were administered the Span of Apprehension Test and a Continuous Performance Test with two levels of difficulty. This schizophrenic sample performed significantly more poorly on the attentional tests than a comparable group of 27 healthy control subjects. Depending on the difficulty of the test we found a number of significant correlations between the SANS composite score and the pertaining attentional impairment item on the one hand and experimental indices of attentional functioning on the other hand, which might corrobor…

Reaction time paradigms in subjects at risk for schizophrenia.

Abstract Deviant response patterns in experimental reaction time paradigms in schizophrenic probands are well documented. Although simple reaction times are strongly influenced by the current psychopathological status of the proband (e.g. florid psychotic patients versus remitted patients) these influences are less clear for measures obtained from more complex reaction time paradigms. These include the crossover paradigm (reaction time to stimuli presented after constant preparatory intervals in comparison to reaction time to stimuli presented after irregular preparatory intervals) and the modality shift paradigm (reaction time to a stimulus (light or tone) when the modality of the stimulus…

The symptom check-list, SCL-90-R: its use and characteristics in chronic pain patients

The SCL-90-R is a widely-used questionnaire for self-report of psychological distress and multiple aspects of psychopathology, as part of the evaluation of chronic pain patients and other non-psychiatric populations. The aim of this study is the presentation of clinical results of this multidimensional questionnaire in a convenience sample of 3540 chronic pain patients treated in a multidisciplinary pain centre. Confirmatory Factor Analysis (CFA), Exploratory Factor Analysis (EFA), single scale factor analyses and Cronbach's alphas are used to assess the internal structure and correlation to other instruments (CES-D, STAI, MPSS) to assess construct validity. It is shown that the 9 dimension…

Intra- and Interhemispheric Electroencephalogram Coherence in Siblings Discordant for Schizophrenia and Healthy Volunteers

Former studies had pointed to an increased electroencephalogram (EEG) coherence in schizophrenics, but it remained unsolved whether this deviation represents the premorbid state or is only a consequence of the current or previous schizophrenic episodes. To clarify this question, we tested the hypothesis that subjects at elevated risk also reveal higher coherences compared to healthy controls. For that, intra- and interhemispheric EEG coherences were investigated in untreated schizophrenics, their healthy siblings, and healthy controls. Differences were only found regarding the intrahemispheric coherences. Both in schizophrenics and, even though to a lesser degree, in their siblings signific…

Neuropsychological deviations in healthy relatives of schizophrenics

Neuropsychological indicators of the vulnerability to schizophrenia

Schizophrenia is associated with enduring deficits in neuropsychological functioning. It is widely undecided if the various aspects of neuropsychological impairment are a consequence of the disorder or if they are also present premorbidly and in populations at increased risk for schizophrenia (vulnerability markers). Neuropsychological deficits in healthy relatives of schizophrenic patients who are at an elevated risk for schizophrenia and who did not yet pass the period of risk would indicate that these deficits are vulnerability markers. This hypothesis was tested for three neuropsychological paradigms which have been proven to distinguish schizophrenic patients from controls. 33 siblings…

The reliability of the SADS-LA in a family study setting

The joint-rater and test-retest reliability study of two translated versions of the SADS-LA (Schedule for Affective Disorders and Schizophrenia--Lifetime version--modified for the study of anxiety disorders), one in French and the other in German, have been tested in family study settings, in a sample of patients and first-degree relatives. The test-retest reliability study demonstrated that identification of major affective disorders and schizophrenia was performed with sufficient reliability; however, diagnoses of subtypes of major disorders (e.g. bipolar II disorder) and identification of minor disorders was less reliable. The implications of these findings in phenotype identification du…