[Guidelines for diagnosis and therapy].
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Adolescent↗
Biomedical subjects
F Poustka
Publications and source records attributed to F Poustka.
No evidence for an involvement of alleles of polymorphisms in the serotonin1Dbeta and 7 receptor genes in obesity, underweight or anorexia nervosa.
The serotonergic (5-hydroxytryptamine, 5-HT) system has been implicated in body weight regulation and in the etiology of anorexia nervosa (AN). Here we describe the screening of the known Phe-124-Cys polymorphism in the 5-HT1Dbeta receptor gene and of the known Pro-279-Leu polymorphism in the 5-HT7 receptor gene. For association tests allele frequencies were compared between up to 393 extremely obese children and adolescents, 142 underweight students and 84 patients with AN. None of the association tests revealed nominal P-values below 0.3. We conclude that a major role of the investigated polymorphisms in body weight regulation or AN appears unlikely.
Adolescent↗
[Abbreviated Psychopathological Scale in basic documentation in child and adolescent psychiatry--results of a multicenter study].
The short form of the Clinical Assessment Scale of Child and Adolescent Psychopathology (CASCAP) assesses psychopathological features only on the level of symptom domains and not on the level of single symptoms. The instrument is part of the basic documentation of child and adolescent psychiatry. Based on the multicenter study sample of CASCAP the ratings of the symptom domains in the different centers were analysed. Inpatients receive higher ratings than outpatients on nearly all symptom domains. Only minor differences could be found between the centres. Advantages and disadvantages of this short version are discussed.
Adolescent↗
Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1.
The present French-German cooperative study focuses on the genotype-phenotype relationship of mutations of the FMR-1 gene and psychiatric conditions in mothers with a full mutation in the FMR-1 gene of fra-X children (n=13), mothers with a premutation in the FMR-1 gene of fra-X children (n=61), as well as premutated siblings of these mothers without affected children (n=17) and two non-mutated control groups: (1) siblings of these mothers with normal CGG repeat (n=18); and (2) mothers of non-fra-X autistic children (n=42). Mothers with a full mutation in the FMR-1 gene and mothers with a premutation in the FMR-1 gene did not differ in the frequency of any axis I disorder; however, both groups were diagnosed with social phobia more often than the control group of mothers of autistic children. Moreover, mothers with a premutation in the FMR-1 gene of fra-X children and their siblings with the premutation (without affected offspring) revealed a similar frequency of social phobia. Furthermore avoidant personality disorder was more common in groups of carriers of the full premutation than in siblings without mutation or than the control group of mothers with autistic children. On the basis of our data, we therefore suggest that social avoidance (expressed as social phobia or avoidant personality disorder) has been underestimated in previous studies of carriers with the FMR-1 full mutation or premutation. Comorbidity of axis I and axis II psychiatric diagnoses was mainly restricted to the group of carriers of the full mutation and carriers of the premutation of FMR-1. Correlations between size of CGG repeat and IQ as well as CGG and age of onset of axis I diagnosis were non-significant. IQ of subjects had no impact on presence or absence of axis I and/or axis II diagnoses.
Adult↗
Screening for mutations in the neuropeptide Y Y5 receptor gene in cohorts belonging to different weight extremes.
OBJECTIVE: The neuropeptide Y (NPY) Y5 receptor is presumed to be involved in the regulation of food intake. DESIGN: To investigate the possible role of this receptor in weight regulation, the whole coding region of the NPY Y5 receptor gene was screened for mutations using temperature gradient gel electrophoresis (TGGE). Detected mutations were screened in extended cohorts. STUDY COHORTS AND METHODS: Cohorts of 87 extremely obese children and adolescents, 15 underweight subjects and 25 patients with anorexia nervosa (AN) were initially screened by TGGE. Extended samples of these cohorts (160 obese children and adolescents; mean body mass index (BMI) 33.5 +/- 6.4 kg/m2, 128 underweight subjects; mean BMI 18.4 +/- 1.0 kg/m2 and 58 patients with AN; mean BMI 14.6 +/- 1.7 kg/m2) were screened to determine the frequencies of a detected mutation and a detected polymorphism in the NPY Y5 receptor gene. In addition, a previously described polymorphism in the first intron of the NPY Y1 receptor gene was analysed. RESULTS: The coding region of the NPY Y5 receptor gene encompasses one exon. A single mutation, which results in a non-conservative amino acid substitution in the first extracellular domain of the receptor (Glu-4-Ala), and one silent polymorphism (Gly-426-Gly-Gly) at nucleotide position 1278 (G-->A) were detected by TGGE. Both tests for association and linkage to the NPY Y1 and NPY Y5 receptor polymorphisms were negative among all cohorts. The Glu-4-Ala mutation was found only in a single patient with AN and her mother. CONCLUSION: The results do not support a major role of the NPY Y5 receptor gene in the variability of body weight in children and adolescents.
Adolescent↗
No evidence for involvement of the leptin gene in anorexia nervosa, bulimia nervosa, underweight or early onset extreme obesity: identification of two novel mutations in the coding sequence and a novel polymorphism in the leptin gene linked upstream region.
Mutations in the leptin gene can result in profound obesity in both rodents and humans. In humans, serum leptin levels correlate with body mass index (BMI: kg m(-2)). However, in patients with anorexia nervosa (AN) leptin levels are lower than in BMI-matched healthy controls. We had previously argued that genes involved in weight regulation should be considered as candidate genes for AN. To investigate this hypothesis we screened the coding region of the leptin gene and part of the leptin gene linked upstream region (LEGLUR) in 49 patients with AN and 315 children and adolescents with extreme obesity. Two novel mutations in the coding region (Ser-91-Ser; Glu-126-Gln), each found in a single proband, and a novel polymorphism in the LEGLUR (position -1387 G/A; frequency of both alleles approximately 0.50) were identified. Tests for association of LEGLUR polymorphism alleles were negative by comparing allele frequencies between 115 AN patients, 71 bulimia nervosa patients, 315 extremely obese children and adolescents, 141 healthy underweights and 50 controls that were not selected for body weight. Tests for transmission disequilibrium were also negative. Hence, an influence of variations in the leptin gene on eating disorders or extreme early onset obesity could not be detected.
Adolescent↗
[Incidence of psychiatric symptoms and somatic complaints in 4- to 10-year-old children in Germany as judged by parents--a comparison of norm-oriented and criteria-oriented models].
OBJECTIVES: To analyze the frequency of behavioral/emotional problems and somatic complaints of children aged four to ten as rated by their parents. METHOD: The analysis is based on the PAK-KID study on behavioural and emotional problems and psychosocial competencies of children and adolescents in Germany. In a nationally representative sample of N = 1030 children aged four to ten years the parents rated their child using the Child Behavior Checklist. RESULTS: The prevalence rates of the symptoms are presented. Additionally global prevalence rates based on three different models were calculated and compared. They range from 13.1% to 28.3%. The issues of defining cutoffs necessary for the calculation of prevalence rates are discussed.
Affective Symptoms↗
The 5-HT transporter gene-linked polymorphic region (5-HTTLPR) in evolutionary perspective: alternative biallelic variation in rhesus monkeys. Rapid communication.
By conferring allele-specific transcriptional activity on the 5-HT transporter gene promoter in humans, the 5-HT transporter gene-linked polymorphic region (5-HTTLPR) influences a constellation of personality traits related to anxiety and increases the risk for neurodevelopmental, neurodegenerative, and psychiatric disorders. Here we have analyzed the presence and variability of the 5-HTTLPR in several species of primates including humans, and other mammals. PCR, Southern blot, and sequence analyses of the 5-HT transporter gene's 5'-flanking region in different mammalian species confirmed the presence of the 5-HTTLPR in platyrrhini and catarrhini (hominoids, cercopithecoids) but not in prosimian primates and other mammals. Since the 5-HTTLPR is unique to humans and simian primates, a progenitor 5-HTTLPR sequence may have been introduced into the genome some 40 Mio, years ago. In humans the majority of alleles are composed of either 14 or 16 repeat elements, while alleles with 18 or 20 repeat elements are rare. In contrast, great apes including orang-utan, gorilla, and chimpanzee display a high prevalence of alleles with 18 and 20 repeat elements. In hominoids all alleles originate from variation at a single locus (polymorphic locus 1). In the 5-HTTLPR of rhesus monkeys (rh5-HTTLPR) we found an alternative locus for length variation (polymorphic locus 2) generated by a 21 bp insertion/deletion event. The existence of a distinct biallelic variation of the 5-HTTLPR in rhesus monkeys but similar allele and genotype frequencies in this species and humans supports the notion that there may be a relationship between functional 5-HT transporter expression, anxiety-related traits, and the complexity of socialization in human and non-human primate populations.
Alleles↗
Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients.
A genetic etiology in autism is now strongly supported by family and twin studies. A 3:1 ratio of affected males to females suggests the involvement of at least one X-linked locus in the disease. Several reports have indicated an association of the fragile X chromosomal anomaly at Xq27.3 (FRAXA) with autism, whereas others have not supported this finding. We have so far collected blood from 105 simplex and 18 multiplex families and have assessed 141 patients by using the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observation Scale, and psychometric tests. All four ADI-R algorithm criteria were met by 131 patients (93%), whereas 10 patients (7%) showed a broader phenotype of autism. Southern blot analysis was performed with three different enzymes, and filters were hybridized to an FMR-1-specific probe to detect amplification of the CCG repeat at FRAXA, to the complete FMR-1 cDNA probe, and to additional probes from the neighborhood of the gene. No significant changes were found in 139 patients (99%) from 122 families, other than the normal variations in the population. In the case of one multiplex family with three children showing no dysmorphic features of the fragile X syndrome (one male meeting 3 out of 4 ADI-algorithm criteria, one normal male with slight learning disability but negative ADI-R testing, and one fully autistic female), the FRAXA full-mutation-specific CCG-repeat expansion in the genotype was not correlated with the autism phenotype. Further analysis revealed a mosaic pattern of methylation at the FMR-1 gene locus in the two sons of the family, indicating at least a partly functional gene. Therefore, we conclude that the association of autism with fragile X at Xq27.3 is non-existent and exclude this location as a candidate gene region for autism.
Autistic Disorder↗
Nonreplication of linkage disequilibrium between the dopamine D4 receptor locus and Tourette syndrome.
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Adolescent↗
Serotonin transporter gene-linked polymorphic region: allele distributions in relationship to body weight and in anorexia nervosa.
Several lines of evidence implicate a role for the serotonergic system in body weight regulation and eating disorders. The magnitude and duration of postsynaptic responses to serotonin (5-HT) is directed by the transport into and release from the presynaptic neuron. Recently, a common polymorphism of a repetitive element in the region of the serotonin transporter (5-HTT) gene-linked polymorphic region (5-HTTLPR) was identified that results in a system of two common alleles. The activity of the 5-HTT, as measured in in vitro assays and in human lymphoblastoid cell lines, is dependent on the respective genotype. We thus hypothesized that this polymorphism is relevant for weight regulation in general and is possibly involved in the etiology of anorexia nervosa (AN). Allele frequencies and genotypes were determined in a total of 385 unrelated obese children, adolescents and adults, 112 underweight subjects and 96 patients with AN. Furthermore, both parents of 98 obese children and adolescents and of 55 patients with AN, respectively, were genotyped, thus allowing to test for both association and linkage. The comparison of allele frequencies between obese and underweight probands provided no evidence for a major role of the 5-HTTLPR in weight regulation. Patients with AN had allele frequencies not significantly different to those observed for obese and underweight individuals.
Adolescent↗
Beta 3-adrenergic-receptor allele distributions in children, adolescents and young adults with obesity, underweight or anorexia nervosa.
OBJECTIVE: The missense mutation (64Trp to 64Arg) in the beta 3-adrenergic-receptor has previously been described to confer a genetic predisposition to the development of obesity. DESIGN: To test the hypothesis we evaluated allele frequencies in children, adolescents and young adults who belonged to different weight groups that were delineated with percentiles for the body mass index (BMI; kg/m2). SUBJECTS: 99 underweight probands (BMI < or = 15th percentile). 80 normal weight probands (BMI: 5th-85th percentile). 238 obese children and adolescents (BMI > or = 97th percentile). 84 patients with anorexia nervosa (AN). MEASUREMENTS: The cohorts were screened by polymerase chain reaction with subsequent restriction fragment length polymorphism (PCR-RFLP) analysis. Data were statistically analysed for association. In addition to these case control studies, the transmission disequilibrium test (TDT) was applied to 80 families of obese probands and to 52 families of patients with AN. RESULTS: Both the tests for association and linkage were negative. The Trp64Arg allele frequencies in the three weight groups (obesity: 0.071; normal weight: 0.081; underweight: 0.056) and the AN patients (0.054) were similar. Extremely obese individuals showed no excess of the Trp64Arg allele. No homozygotes for the Trp64Arg allele were detected. CONCLUSION: Heterozygosity for the Trp64Arg allele is not of major importance in regulation of body weight in individuals younger than 35 y. Additionally, the extreme obese subgroup is not enriched for the polymorphism.
Adolescent↗
Serotonin transporter (5-HTT) gene variants associated with autism?
An association study was performed to elucidate the role of the serotonin transporter (5-HTT) gene as a susceptibility factor for autism as treatment of patients with antidepressant drugs which selectively target 5-HTT reduced autistic or concomitant symptoms, such as repetitive behavior and aggression, and ameliorate language use. Using the transmission/disequilibrium test (TDT) an analysis was done for a common polymorphism in the upstream regulatory region (5-HTTLPR), a VNTR in intron 2 of the gene and a haplotype of both loci in 52 trios fulfilling stringent criteria for autism and an extended group of 65 trios including patients showing no language delay in their first 3 years of life. A higher frequency and preferential transmission of the long allele of the 5-HTTLPR was observed, but the TDT gave a statistically significant value ( P = 0. 032) only for the extended patient group. This result is in contrast to a recent study by a US group presenting preliminary evidence for preferential transmission of the short allele of 5-HTTLPR in 86 trios. Both studies failed to reveal significant linkage disequilibrium between the VNTR in intron 2 of the gene and autism. In our study haplotype analysis of the 5-HTTLPR and the VNTR in intron 2 supplied evidence for an association of 5-HTT and autism in the stringent ( P = 0.069) and extended patient group ( P = 0.049). Overall, we were not able to replicate the findings of the first study on 5-HTT and autism and instead observed a tendency for association of the opposite genetic variant of the gene with the disorder. The implications for genetic variants of the serotonin transporter in the etiology of autism and possible subgroups of patients, therefore, needs clarification in further studies with other and larger patient samples.
Adolescent↗
[Psychopathological evaluation of children and adolescents in 4 child and adolescent psychiatry referral groups--a multicenter study].
Goal of the multicenter study with the Clinical Assessment Scale of Child and Adolescent Psychopathology (CASCAP) in a sample of N = 5027 patients from the inpatient and outpatient clinics of psychiatry and psychotherapy of childhood and adolescence of the universities of Berlin (Virchow Clinic), Frankfurt, Cologne and Zurich is the comparison of the clinical populations of these institutions with respect to single symptoms, to symptom scales and to the supreme level of aggregation, the clinical diagnoses according to ICD 10. On the level of diagnoses similar distributions can be found in the centers, but there are also significant differences between the centers. This differences can be found again also on the level of symptom scales and single symptoms, though the deviations are comparatively low.
Adolescent↗
[The value of different sources of information in evaluating psychiatric disorders in adolescence--a comparison of parental judgment and self-assessment by adolescents].
Data from the national representative epidemiologic survey (PAK-KID-study) assessed by the German versions of Achenbach'S Child Behavior Checklist and Youth Self-Report of N = 1757 parents and their children aged 11 to 18 years are compared by using the corresponding Cross-Informant-Scales. On all problem scales adolescents report more problems than parents. For some scales the differences between girls and their parents are higher than between boys and their parents (social withdrawal, somatic complaints, anxious/depressed, attention problems, internalizing and total score). Averaged Pearson correlations of the eight subscales are in a moderate rage (r < 0.50). For all problem scales an agreement of 30% in the area of high problems (> PR95) is found. If one informant scores above PR95 the Relative Risk of the other one scoring in this range too is significantly higher than one for nearly all scales.
Adolescent↗
[Mental disturbances in children and adolescents in Germany. Results of a representative study:age,gender and rater effects].
METHOD: A study on behavioral and emotional problems and competence in children and adolescents in Germany (PAK-KID study) is described. It is the first nationwide representative survey of this kind of children and adolescents aged 4 to 18 years in Germany. For children aged 4 to 10 years the parents completed the German version of Achenbach's Child Behavior Checklist (CBCL 4-18) developed by the Arbeitsgruppe Deutsche Child Behavior Checklist. Children and adolescents aged 11 years and older filled out the German version of the Youth Self-Report that is part of Achenbach's CBCL in addition to the parents completing the German version of the CBCL. A total of 2856 parent questionnaires and 1798 self-report questionnaires completed by children and adolescents were analyzed. RESULTS: The sample was representative with respect to the main sociodemographic variables. On all problem scales children and adolescents aged 11 to 18 years reported significantly more problems than their parents did. The frequency of internalizing problems (social withdrawal, somatic complaints, anxiety/depression) and delinquent behavior of children and adolescents reported by parents increased with the children's age, whereas aggressive behavior and attention problems decreased with age. Girls reported significantly more problems than boys on all internalizing scales of the Youth Self-Report. The effect was not totally replicated in the parent reports. In the parent reports, boys had more attention problems and more aggressive and delinquent behavior than girls.
Adolescent↗
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 full mutation in the fra-X group obtained a diagnosis of the schizophrenia-spectrum (schizophrenia, schizophreniform disorder, and schizoaffective disorder). Carriers of the fra-X full mutation had considerably lower IQ than carriers of the fra-X premutation. There was a negative correlation between length of CGG repeats and IQ which failed to reach significance in both groups of fra-X carriers. Psychiatric morbidity was not restricted to carriers of the fra-X full mutation only but was also present in normal intelligent premutation carriers. Furthermore the age of onset of psychiatric morbidity in both groups of mothers of fra-X children as well as the group of mothers with autistic children was much earlier than the age when mental retardation had been diagnosed in their children. Increased psychosocial burden of raising a developmentally retarded child and/or feelings of guilt of being a fra-X carrier can therefore not fully explain our findings (three-fold higher frequencies of affective disorders compared to mothers from the general population).
Adult↗
[Behavioral symptoms of children and adolescents in Germany, the Netherlands and USA. A cross-cultural study with the Child Behavior Checklist].
The goal of the study was a cross-cultural comparison of the parent ratings of behavior problems of children and adolescents aged 4-18 years in Germany, The Netherlands and the United States using the Child Behavior Checklist (CBCL). The analyses were undertaken in a German community sample (n = 1622) and a Dutch community sample (n = 2076). The results were compared with the data published by Achenbach for the national US sample. The analyses were based on the scales of the 1991 CBCL version and were performed for four age and sex groups (4- to 11-year-old boys/girls and 12- to 18-year-old boys/girls). In general, relatively minor differences could be detected between the three random samples. The range in the different samples was between -0.04 and 0.35, which is in line with other cross-cultural analyses using the CBCL. As long as no representative norms for Germany are available, the American norms can serve as an orientation for German studies using the CBCL.
Adolescent↗