0000000000066914
AUTHOR
Fritz Poustka
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…
Differences in zinc status and the leptin axis in anorexic and recovered adolescents and young adults : a pilot study
Food & nutrition research 56, 8 S. (2012). doi:10.3402/fnr.v56i0.10941
Erfasst der FBT lokale visuelle Informationsverarbeitung bei Autismus-Spektrum-Störungen?
Fragestellung: Der kognitive Phänotyp von Autismus-Spektrum-Störungen (ASS) ist unter anderem durch eine Neigung zu lokaler Informationsverarbeitung (schwacher zentraler Kohärenz) gekennzeichnet. Es wurde untersucht, ob der Fragmentierte Bilder Test (FBT) diese Präferenz zu erfassen vermag. Methodik: Die FBT-Leistungen 15 autistischer, 16 depressiver und 16 schizophrener Patienten sowie von 16 typisch entwickelten Kontrollpersonen wurden verglichen. Mit dem Embedded Figures Test (EFT) und dem Mosaiktest (MT) wurden ebenfalls validierte Tests lokaler Informationsverarbeitung erhoben. Ergebnisse: Patienten mit ASS zeigten eine Präferenz für lokale Informationsverarbeitung, d. h. Beeinträchti…
Zytogenetische Veränderungen durch Methylphenidat?
Zusammenfassung: Fragestellung: Wegen des Verdachts, dass Methylphenidat (MPH) zytogenetische Veränderungen beim Menschen induzieren könnte, wird der Einsatz dieser Substanz kontrovers debattiert. Die Diskussion wurde ausgelöst durch eine Studie von El-Zein et al. (2005) , die bei zwölf Kindern nach dreimonatiger Behandlung mit MPH eine signifikante Häufung chromosomaler Aberrationen, Schwesterchromatiden-Austausche und Kleinkerne fanden. Methodik: Die vorliegende Arbeit diskutiert die Untersuchung von El-Zein et al. unter Berücksichtigung gegenwärtig geltender zytogenetischer Standards und ordnet sie ein in den Zusammenhang bisheriger Studien zur Mutagenität, Klastogenität und Kanzerogeni…
Differences in Serum Zn Levels in Acutely Ill and Recovered Adolescents and Young Adults with Anorexia Nervosa - A Pilot Study
Preliminary evidence suggests that changes in zinc (Zn) metabolism are associated with anorexia nervosa (AN). However, data are scarce regarding potential differences in serum Zn concentrations in adolescent and young adult patients with AN. It was the aim of the present pilot study to compare serum Zn concentrations between acutely ill and remitted adolescent and young adult female patients with AN and female controls. Zn concentrations were higher in remitted compared with acutely ill patients. Zn concentrations were also higher in remitted patients compared with controls, but there was no significant difference in Zn concentrations between acutely ill patients and controls. The present s…
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…
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
AM Vicente - Cross-Disorder Group of the Psychiatric Genomics Consortium Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in …
Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways
G.B. and S.N. acknowledge funding support for this work from the National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. P.H.L. is supported by US National Institute of Mental Health (NIMH) grant K99MH101367. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an an…
Systematic screening for mutations in the promoter and the coding region of the 5-HT1A gene.
In the present study we sought to identify genetic variation in the 5-HT{sub 1A} receptor gene which through alteration of protein function or level of expression might contribute to the genetic predisposition to neuropsychiatric diseases. Genomic DNA samples from 159 unrelated subjects (including 45 schizophrenic, 46 bipolar affective, and 43 patients with Tourette`s syndrome, as well as 25 healthy controls) were investigated by single-strand conformation analysis. Overlapping PCR (polymerase chain reaction) fragments covered the whole coding sequence as well as the 5{prime} untranslated region of the 5-HT{sub 1A} gene. The region upstream to the coding sequence we investigated contains a …
Differences in serum zinc levels in acutely ill and remitted adolescents and young adults with bulimia nervosa in comparison with healthy controls – a cross-sectional pilot study
Neuropsychiatric disease and treatment 2017(13), 2621-2630 (2017). doi:10.2147/NDT.S137549