TY - JOUR A1 - Schneider, Eberhard A1 - Dittrich, Marcus A1 - Böck, Julia A1 - Nanda, Indrajit A1 - Müller, Tobias A1 - Seidmann, Larissa A1 - Tralau, Tim A1 - Galetzka, Danuta A1 - El Hajj, Nady A1 - Haaf, Thomas T1 - CpG sites with continuously increasing or decreasing methylation from early to late human fetal brain development JF - Gene N2 - Normal human brain development is dependent on highly dynamic epigenetic processes for spatial and temporal gene regulation. Recent work identified wide-spread changes in DNA methylation during fetal brain development. We profiled CpG methylation in frontal cortex of 27 fetuses from gestational weeks 12-42, using Illumina 450K methylation arrays. Sites showing genome-wide significant correlation with gestational age were compared to a publicly available data set from gestational weeks 3-26. Altogether, we identified 2016 matching developmentally regulated differentially methylated positions (m-dDMPs): 1767 m-dDMPs were hypermethylated and 1149 hypomethylated during fetal development. M-dDMPs are underrepresented in CpG islands and gene promoters, and enriched in gene bodies. They appear to cluster in certain chromosome regions. M-dDMPs are significantly enriched in autism-associated genes and CpGs. Our results promote the idea that reduced methylation dynamics during fetal brain development may predispose to autism. In addition, m-dDMPs are enriched in genes with human-specific brain expression patterns and/or histone modifications. Collectively, we defined a subset of dDMPs exhibiting constant methylation changes from early to late pregnancy. The same epigenetic mechanisms involving methylation changes in cis-regulatory regions may have been adopted for human brain evolution and ontogeny. KW - Autism spectrum disorders KW - DNA methylation KW - Genome KW - Autism KW - Frontal cortex KW - Human prefrontal cortex KW - Gene-expression KW - Schizophrenia KW - Patterns KW - Transcription KW - Epigenetics KW - Environment KW - Fetal brain development KW - DNA methylation dynamics KW - Methylome Y1 - 2016 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-186936 VL - 592 IS - 1 ER - TY - JOUR A1 - Franzek, E. A1 - Sperling, W. A1 - Stöber, Gerald A1 - Beckmann, H. T1 - Die frühkindliche Form einer negativistischen Katatonie N2 - Es wird ein Krankheitsbild negativistischer Katatonie nach Leonhard mit nachweislichem Beginn in der frühen Kindheit beschrieben. Dieses zeichnet sich durch Negativismus, negativistische Erregungen mit (Auto)aggressivität und triebhaften Durchbrüchen aus. Die expressive Sprachentwicklung fehlt oder sie bleibt auf dem erreichten Entwicklungsstand stehen. Die körperliche Gesamtreifung ist retardiert. Zumeist nicht als frühkindliche Katatonien erkannt, werden diese Krankheiten fälschlich als "Schwachsinn bei frühkindlichem Hirnschaden" oder unspezifisch als "tiefgreifende Entwicklungsstörung" (DSM III-R, ICD 10) diagnostiziert. N2 - In a case report the clinical manifestation of negativistic catatonia with its modified symptomatology by first onset in early childhood is presented. The symptomatology consists of negativism, negativistic excitations with (auto)aggressivity and impulsive behaviour. Development of expressive language is lacking or is arrested. Physical development is retarded. These conditions are seldom recognized but diagnosed as organic brain syndrome or more unspecifically as "pervasive developmental disorder" (DSM III-R, ICD 10). KW - Schizophrenie KW - Neurologie KW - Psychiatrie KW - Frühkindliche Katatonie KW - Leonhard-Klassifikation KW - Schizophrenia KW - Early infant catatonia KW - Leonhard classification Y1 - 1993 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-78448 ER - TY - JOUR A1 - Stöber, Gerald T1 - Schwangerschaftsinfektionen bei Müttern von chronisch Schizophrenen: die Bedeutung einer differenzierten Nosologie N2 - In einer retrospektiven Untersuchung erinnerten 16 von 80 Müttern von chronisch Schizophrenen eine schwere Infektionserkrankung in der Schwangerschaft. Im zweiten Trimenon waren gehäuft Infektionen aufgetreten. Zehn von 80 Müttern von Kontrollpersonen erinnerten ebenfalls eine Infektion. Im Vergleich zu den Kontrollen halfen Mütter Schizophrener im 5. Schwangerschaftsmonat häufiger Infektionen als in den anderen Gestationsmonaten (p < 0,05). Bei "familiären" und "sporadischen" Schizophrenen gemäß DSM III-R kamen im Vergleich zu Kontrollen Infektionen in gleicher Häufigkeit vor. Wurden hingegen in der Diagnostik schizophrener Psychosen die Definitionen von Leonhard zugrunde gelegt, ergaben sich signifikante Unterschiede! Bei den systematischen Schizophrenen (denen nach Leonhard keine erbliche Disposition zugrunde liegt) waren Infektionen gehäuft im 2. Schwangerschaftsdrittel aufgetreten, sowohl im Vergleich zu Kontrollen (p < 0,01) als auch im Vergleich zu den unsystematischen Schizophrenen, die hauptsächlich genetisch bedingt zu sein scheinen (p < 0,001). Infektionserkrankungen im 5. Schwangerschaftsmonat waren ausschließlich bei den Müttern von systematischen Schizophrenen vorgekommen. Bei diesen Krankheitsformen scheinen Infektionen im 2. Schwangerschaftstrimenon und insbesondere im 5. Schwangerschaftsmonat wichtige ätiologische Faktoren zu sein und könnten mitursächlich sein für die beschriebenen zytoarchitektonischen Aberrationen im Zentralnervensystem von chronisch Schizophrenen. N2 - In a retrospective study, 16 of 80 mothers of chronic DSM III-R schizophrenics reported having had a serious infectious disease during pregnancy. Eleven of the infections had occurred during the second trimester. Influenza and the common cold with fever were frequent. Ten of 80 female controls also recalled having had an infectious illness during pregnancy. Compared to the controls, mothers of schizophrenics reported more infectious illness during pregnancy, particularly during the fifth month ofgestation (p < 0.05). Mothers of familial and of sporadic DSM III-R schizophrenics reported equal frequencies of infections in pregnancy. In contrast, when Leonhard's classification of psychoses was applied, significant differences appeared. Infections during pregnancy were scarcely found in unsystematic schizophrenics (mainly genetically determined according to Leonhard). In systematicschizophrenics (mainly exogenously determined according to Leonhard), a significantly higher frequency of infectious diseases was reported for the second trimester as compared both to controls (p < 0.01) and to unsystematic schizophrenics (p < 0.001). Infections during the fifth month of gestation were exclusively reported in systematic schizophrenics. Thus, in the systematic forms of schizophrenia infections during the second trimester and particularly during the fifth montb ofgestation seem to play an important role in the etiology and seem to be of causal importance for the various cytoarchitectural abnormalities detected in the central nervous system of schizophrenics. KW - Medizin KW - Psychologie KW - Schizophrenie KW - Schwangerschaftsinfektion KW - "Familiär-sporadisch"- Konzept KW - Leonhard-Klassifikation KW - Schizophrenia KW - Maternal infections KW - Pregnancy KW - Familial/sporadic concept KW - Leonhard classification Y1 - 1994 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-78438 ER - TY - JOUR A1 - Strik, Werner K. A1 - Dierks, Thomas A1 - Franzek, Ernst A1 - Stöber, Gerald A1 - Maurer, Konrad T1 - P300 in Schizophrenia: Interactions between Amplitudes and Topography N2 - Low P300 amplitudes and topographical asymmetries have been reponed in schizophrenic patients, but reference-independent amplitude assessment failed to replicate reduced amplitudes. P300 amplitude is conventially assessed at midline electrodes (PZ), anti asymmetric topography as reported in schizophrenics, may conj'ound this measurement. We lnvestigated the possible Interaction between P300 ropography and assessments of amplitudes. ln 41 clinically stable schizophrenics and 31 normal controls, the generalfinding ofreduced amplitudes at the P'l electrode and topographical asymmetrles in the patient group were replicated. ln both groups, a.symmetries of the P300 field (lateralized peaks) reduced the standard amplitude assessment at the midline parletal electrode, but did not Qjfoct the reference-independent, global amplitude assessment. This shows thal asymmetry per se does not imply reduced field strength. in addition, in schizophreraics. but not in controls, there was a significcmt effect oftlae direction of asymmetry on both amplltude measures, amplitudes belng lower with increasing shift ofthe P300 peak to the right side. Considering also the slightly left-lateralized peaks in the normal controls. this suggests rhat only right lateralized P300 peaks upressfunctional deficits in schizophrenics, whereas left lateralized pealcs fall wlthin the physiological variability of the P3OO field. Tht refonnce-independent amplitude assessment is proposed for unambiguous amplitude assessment in order to better define the clinical, psychological and physiopathological mtaning of the P3OO alterations in schizophrenics. KW - Schizophrenie KW - Event-related potentials KW - P300 KW - P300 topography KW - Brain mappins KW - Schizophrenia Y1 - 1994 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-63351 ER - TY - JOUR A1 - Ellgring, Johann Heinrich T1 - Nonverbal expression of psychological states in psychiatric patients N2 - Nonverbal behavior, especially facial expression, appears as one of the most important means for communicating affective states. Studies on groups of psychiatric patients and control subjects are reported in which nonverbal behavior is analyzed from videotaped dialogues. Using a quantitative approach, results on facial behavior, speech, and gaze are described, which shed light on the expressive and communicative functions of nonverbal behavior. From longitudinal observations on depressed patients it emerged that individualspecific associations have to be taken into account for the relationship between expressive behavior and mood changes. The predominance of facial behavior in the speaker role of an individual found in patients and control groups points to the integrated communicative function of the verbal and nonverbal elements. However, recovered schizophrenic patients exhibited a dissociation of these elements. Implications for our understanding of nonverbal communications are discussed. KW - Nonverbal communications KW - Facial expression KW - Gaze behavior KW - Expression of mood states KW - Schizophrenia KW - Depression KW - Psychopathology Y1 - 1986 U6 - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-43179 ER -