Weight criteria for diagnosis of anorexia nervosa.
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Adolescent↗
Biomedical subjects
H Remschmidt
Publications and source records attributed to H Remschmidt.
Independent confirmation of a major locus for obesity on chromosome 10.
Linkage results obtained in genome-wide scans for complex phenotypes require confirmation in independent samples. Recently, linkage of obesity to chromosome 10p12 with a maximal multipoint LOD score of 4.85 was reported upon use of an affected sib-pair approach including nuclear families in which the adult index case had a BMI > or = 40 kg/m2 and at least one further sibling had a BMI > or = 27 kg/m2 (Hager et al., 1998, Nat Genet 20:304-8). To attempt to replicate this linkage finding we genotyped 11 markers spanning approximately 23 cM from 10p13 to 10ql1 in a total of 386 individuals stemming from 93 nuclear families with two or more young obese offspring with a BMI > or = 90th age percentile. The highest multipoint maximum likelihood binomial (MLB) LOD score using the extreme concordant sib-pair approach in which one sib had a BMI > or = 95th percentile, and other sibs a BMI > or = 90th percentile was 2.32. Six markers yielded nominal p-values < 0.05, the highest two point MLB-LOD score of 2.45 (nominal p = 0.0004) was obtained for the marker TCF8. Transmission disequilibrium tests for the most frequent parental allele yielded no nominal p-value < 0.05. The linkage results confirm the presence of a major susceptibility locus for obesity in a region near the centromere on chromosome 10.
Adult↗
No evidence for involvement of polymorphisms of the dopamine D4 receptor gene in anorexia nervosa, underweight, and obesity.
Family and twin studies suggest a genetic contribution to the etiology of anorexia nervosa (AN) and obesity. Genes involved in weight regulation can be considered as candidate genes for AN. The dopaminergic system has been implicated in weight regulation; previous results had suggested a possible involvement of the dopamine D4 receptor gene (DRD4). We screened for alleles of two different polymorphisms (13-bp deletion, 48-bp repeat) in the DRD4. For association tests, allele frequencies were compared between 109 inpatients with AN, 82 underweight students, and 327 extremely obese children and adolescents. For application of transmission disequlibrium tests (TDT) we additionally genotyped 57 and 137 trios comprising a patient with AN or an extremely obese child or adolescent, respectively, and both parents. All genotyping was performed with polymerase chain reaction fragment length polymorphism analyses. None of the association tests or TDT rendered nominal P values below 0.1. An influence of alleles of the DRD4 on the development of AN, underweight, or extreme early onset obesity was not detected. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:594-597, 1999.
Adolescent↗
Pre-attentive processing of auditory patterns in dyslexic human subjects.
It has been hypothesized that auditory temporal processing plays a major role in the aetiology of dyslexia. Event-related brain potentials (mismatch negativity, MMN) of auditory temporal processing were assessed in 15 dyslectic adults and 20 controls. A complex tonal pattern was used where the difference between standard and deviant stimuli was the temporal, not the frequency structure. Dyslexics had a significantly smaller MMN in the time window of 225-600 ms. This result shows that dyslexics have a significant pre-attentive deficit in processing of rapid temporal patterns suggesting that it may be the temporal information embedded in speech sounds, rather than phonetic information per se, that resulted in the attenuated MMN found in dyslexics in previous studies. MMN scalp topographies were similar for both groups, showing a maximum over fronto-central leads.
Acoustic Stimulation↗
Attenuated hemispheric lateralization in dyslexia: evidence of a visual processing deficit.
There is controversial evidence that deficits in the processing of low contrast and low spatial frequency stimuli are of importance in the pathogenesis of dyslexia. Fifteen adult dyslexics and 19 controls were examined using visual evoked potentials (VEP) at varying spatial frequencies (2 and 11.33 cpd) and contrasts (0.2, 0.4, 0.6, 0.8). Our results show that the amplitude of VEPs following different spatial frequencies and contrasts did not differentiate between dyslexics and controls. Further, we found significantly higher amplitudes of the P1 and P2 over the right occipital cortex. For the P2, this hemispheric asymmetry was not found in the dyslexic group suggesting a specific low level visual processing deficit in the right occipital region in dyslexia.
Adult↗
[Eating disorders in adolescence: warning signs].
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Adolescent↗
Tourette syndrome and the norepinephrine transporter gene: results of a systematic mutation screening.
Tourette syndrome (TS) is a complex inherited neuropsychiatric disorder characterized by multiple motor and phonic tics. Involvement of central norepinephrine mechanisms is suggested by central norepinephrinic hyperactivity in patients with TS and by the therapeutic effects of the presynaptic alpha2-adrenergic agonist clonidine. The norepinephrine transporter gene (NET) was systematically screened by single-strand conformation analysis for genetic variants, including the whole coding region and adjacent exon-intron boundaries in 43 patients with TS and 46 healthy controls. We detected 12 DNA sequence variants, among them four missense mutations (Val69Ile, Thr99Ile, Va1245Ile, and Gly478Ser). The observed missense mutations may alter conformational rearrangements during gating of the transporter, assembly of subunits, and norepinephrine-specific uptake affinity. Allele frequency and genotype distribution of the genetic variants showed no differences between TS patients and controls. No mutation of likely functional significance was found that distinguished TS patients from healthy controls, indicating that genetic variants of the NET gene are not causally related to Tourette syndrome.
Adolescent↗
The relationship between premorbid body weight, weight loss, and weight at referral in adolescent patients with anorexia nervosa.
OBJECTIVE: The purpose of this study was to investigate the relationship between premorbid weight and weight upon referral for inpatient treatment in patients with anorexia nervosa (AN). METHOD: Forty-nine consecutively ascertained female inpatients with AN were asked to recall their premorbid body weights as well as their ages at onset of the illness. Premorbid body mass indexes (BMIs) and BMI percentiles were calculated for 42 of the patients and related to the BMIs upon initial referral for inpatient treatment. RESULTS: Low premorbid BMI centiles were associated with a low BMI at referral. Vice versa, patients with an above average premorbid body weight had a higher BMI at referral. The largest absolute weight losses also occurred in those patients who had an above average premorbid body weight. DISCUSSION: In conclusion, premorbid body weight explains a proportion of the variance of body weight at referral.
Adolescent↗
The role of phonological awareness, speech perception, and auditory temporal processing for dyslexia.
There is strong evidence that auditory processing plays a major role in the etiology of dyslexia. Auditory temporal processing of non-speech stimuli, speech perception, and phonological awareness have been shown to be influential in reading and spelling development. However, the relationship between these variables remains unclear. In order to analyze the influence of these three auditory processing levels on spelling, 19 dyslexic and 15 control children were examined. Significant group differences were found for all speech variables, but not for any non-speech variable. Structural equation modeling resulted in a fairly simple model with direct paths to the respective next lower level. One additional path from preattentive speech processing to spelling had to be included in order to improve the model fit. These results strengthen the role of speech and phonological processing for the etiology in dyslexia.
Attention↗
Genetic linkage analysis with dyslexia: evidence for linkage of spelling disability to chromosome 15.
Dyslexia (reading and spelling disability) is one of the most frequently diagnosed disorders in childhood. Twin studies of dyslexia have indicated that deficits in spelling are substantially heritable and that the heritability of spelling deficits is higher than the heritability of reading deficits. We conducted a linkage study for spelling disability in seven multiplex families from Germany. Following previously reported linkage findings of components of dyslexia to chromosome 6p21-p22 and 15q21, we genotyped 26 microsatellite markers covering all of chromosome 6, and 13 microsatellite markers covering all of chromosome 15. While the chromosome 6 data were negative, results from chromosome 15 markers supported a locus on 15q21. The highest two-point LOD score was 1.26 with marker D15S143 at theta = 0. A multipoint LOD score of 1.78 (p = 0.0042) was achieved with a maximum at D15S132. Thus, our results provide independent support for a dyslexia gene on the long arm of chromosome 15.
Child↗
[Body weight regulation in anorexia nervosa with special attention to leptin secretion].
Underweight is a key symptom in anorexia nervosa. In this review we summarize recent findings pertaining to weight regulation in this eating disorder. The observation that a body mass index below 13 kg/m2 upon admission for inpatient treatment is associated with a high mortality rate and chronic persistence of underweight is of obvious clinical relevance. A lowered leptin secretion, which results from the weight loss, is presumably of major importance for the development of amenorrhea. We discuss findings pertaining to a reduced body weight in other psychiatric disorders during adolescence in the light of Kretschmer's findings related to body frame and psychopathology.
Animals↗
[Developmental psychopathology. Basic science for child and adolescent psychiatry and psychiatry].
Although the developmental perspective is not new, developmental psychopathology has only recently become an interdisciplinary and integrative field of research for the understanding of normal and pathological development as well. There have been new findings during the past two decades in several areas: the individual and sex differences of certain disorders, continuity and change of behavior, risk factors and protective factors as well as turning points in development. Also, the current classification systems include the developmental perspective on a special axis devoted to developmental disorders. Nevertheless, there are still huge gaps in our knowledge in nearly all relevant fields that need to be filled in the future. On the other hand, the available knowledge has not yet been applied to diagnostic procedures, to therapeutic interventions, or to preventive measures.
Adolescent↗
The influence of different diagnostic approaches on familial aggregation of spelling disability.
The influence of different diagnostic approaches on familial aggregation of spelling disability was investigated in three studies. In the first study, in a sample of 32 dyslexic children and their families, we found significantly increased rates of spelling-disabled sibs and parents by applying the IQ-discrepancy criterion. There was no evidence for the assumption that IQ-discrepancy and low achievement criteria define different subgroups of spelling disorder regarding familial aggregation. In the second study, in a sample of 79 adults, it could be demonstrated that questionnaire data can be used as an appropriate method to classify adult probands as spelling disabled with a correct classification rate above 87%. In the third study, a subgroup of dyslexic boys could be characterized by a lack of the N1-component in visual evoked potentials which was most prominent in those boys whose spelling scores were more than 1.5 standard deviations below their intelligence level. This subgroup could be interesting also for genetic research.
Achievement↗
Body image distortion in Anorexia Nervosa--is there really a perceptual deficit?
Perceived and ideal body image were analysed in 36 inpatients with Anorexia Nervosa (AN) and 18 control patients (age 11-23 years). A computer-based image distortion technique allowed distortion of the whole body and of body parts. Subjects rated their own image. A body perception index (BPI) was calculated by dividing estimated dimension with real dimension. There was no general overestimation of body dimensions in AN patients in comparison to controls but AN patients more often under- or overestimated their body dimensions. Control patients showed a significant lower ideal BPI than AN patients, whose ideal body shape was similar to the observed body shape. Profile analyses of the body part estimation procedure revealed significant differences between groups in the ideal body shape at the body regions thigh, hip, waist and chest with control patients again showing a lower BPI.
Adolescent↗
[Guidelines for diagnosis and therapy].
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Adolescent↗
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↗
Serum leptin and gonadotropin levels in patients with anorexia nervosa during weight gain.
Leptin plays an important role in reproductive function. In patients with acute anorexia nervosa, serum leptin levels have repeatedly been shown to be lower than in age-matched controls. We have previously hypothesized that the amenorrhea characteristic of anorexia nervosa is related to this low leptin secretion. In an attempt to address this hypothesis, serum levels of leptin and follicle stimulating hormone (FSH) and luteinizing hormone (LH) of 16 female inpatients with anorexia nervosa or an eating disorder not otherwise specified (atypical anorexia nervosa) were measured on a biweekly basis during weight gain. We hypothesized that a serum leptin level of 1.85 microg L(-1) would be associated with gonadotropin levels at or above the minimal level observed during the menstrual cycle in healthy adult fertile females. Our results revealed that increments of LH levels generally tracked increments of leptin levels during the first weeks of treatment. Similarly, in those patients with low referral leptin levels, FSH initially also tracked leptin levels. In contrast, a relationship between gonadotropin levels and leptin secretion was no longer discernible after LH and FSH levels had peaked. Those patients with exceedingly low leptin levels upon admission revealed a slow increase of gonadotropin levels. Our hypothesis of a threshold leptin level of 1.85 microg L(-1) was supported for LH only.
Adolescent↗
Further lack of association between the 5-HT2A gene promoter polymorphism and susceptibility to eating disorders and a meta-analysis pertaining to anorexia nervosa.
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Adult↗