Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS. We additionally screened a database of 173 22q11DS patients and identified a fourth individual with JME as well as 2 additional cases with GGE. We describe 6 novel and 22 published cases with co-occurrence of 22q11DS and GGE. In many patients, GGE was associated with myoclonic seizures allowing for a diagnosis of JME in at least 6 individuals. Seventeen of the 173 22q11DS cases (10%) had a diagnosis of either focal or generalized epilepsy. In these cases, focal epilepsy could often be attributed to syndrome-associated hypocalcaemia, cerebral bleeds, or structural brain anomalies. However, the cause of GGE remained unclear. In this study, we describe and review 28 individuals with 22q11DS and GGE (especially JME), showing that both disorders frequently co-occur. Compared to the reported prevalence of 15-21%, in our case series only 10% of 22q11DS individuals were found to have epilepsy, often GGE. Since 22q11.2 does not contain convincing GGE candidate genes, we discuss the possibility of an aetiological correlation through a possibly disturbed interaction with the GABAB receptor.

[Anorexia nervosa as differential diagnosis in underweight patients]. / Die Anorexia nervosa als Differenzialdiagnose bei Untergewicht.

Anorexia nervosa is a differential diagnosis in underweight patients, especially in young underweight women. Diagnostic criteria for anorexia nervosa are self-induced weight loss due to restrictive eating or purging behaviour, intense fear of gaining weight and disturbance in the way in which one`s shape is experienced, undue influence of body weight on self-evaluation and persistent lack of recognition of the seriousness of the current low body weight. Anorexia nervosa is associated with numerous medical complications.

[Anxiety driven atypical eating disorder in the course of phenylketonuria]. / Die Angst vor der Aminosäure: Atypische Essstörung bei angeborenem Enzymdefekt--Fall 2 / 2015.

HISTORY AND ADMISSION FINDINGS: Phenylketonuria is the most common genetic disease in amino acid metabolism. We report the case of a 22-year old patient with phenylketonuria and psychological symptoms. After early treatment, phenylalanine levels had been controlled and were within target area. INVESTIGATIONS: Clinical interview and psychometrics showed atypical eating disorder and anxiety disorder. DIAGNOSIS, TREATMENT AND COURSE: Possible toxic effects and psychological factors may play a role in pathogenesis. CONCLUSIONS: Most likely the frequency of eating disorders and anxiety disorders in phenylketonuria is underestimated.

Olfactory deficits in patients with anorexia nervosa.

BACKGROUND: Patients with anorexia nervosa (AN) often show gastrointestinal symptoms and have altered gastrointestinal functions. Olfaction is part of the predigestive function and plays an important role in the selection of food and the control of food intake. The question arises if patients with eating disorders have changes in olfactory functions as well. The aim of this study was to compare olfactory functions in patients with AN and controls using the Sniffin' sticks. METHOD: We studied 19 patients with AN, restricting type (10 patients) and binge-eating/purging type (9 patients) and 21 healthy controls matched by age. For evaluation of the severity of AN we used the Eating Disorder Inventory-2 (EDI-2). RESULTS: Differences were found in odour identification with patients with AN having lower scores and there was a significant correlation between results in this subtest and BMI. There were no differences in odour threshold, odour discrimination and overall performance. There was no correlation between test results and EDI-2 scores. We did not find differences between subtypes of AN. CONCLUSIONS: Larger and more homogenous samples are needed to gain a better understanding of degree and type of olfactory deficits in AN-patients with possible consequences for refeeding therapy.

[When eating becomes a disease - Binge-eating-disorder as comorbid eating disorder in obesity - Case 07/2009]. / Wenn Essen zur Krankheit wird - Die Binge-Eating-Störung als komorbide Essstörung bei Adipositas - Fall 07/2009.

HISTORY AND ADMISSION FINDINGS: A 30-year-old obese female patient with binge eating behaviour, depressive symptoms and poorly regulated diabetes mellitus was admitted to the department of psychosomatic medicine and psychotherapy INVESTIGATIONS: The body mass index at time of admission was 38 kg/m(2). Fasting and postprandial blood glucose values were markedly increased. HbA(1c) level was 10.2%. Psychological diagnostic showed a binge eating disorder and a major depressive syndrome. DIAGNOSIS, TREATMENT AND COURSE: After diagnosis, the patient was treated within a psychosomatic concept considering psychotherapeutic and diabetological aspects, including exercises and nutrition. In course of the treatment, the binge eating ceased and connections between binge-eating and depressive symptoms on the one hand as well as life story and psychiological conflicts on the other hand could be drawn. The poorly regulated diabetes improved in parallel. CONCLUSION: Given that overweight and obesity may be associated with somatic (e.g., diabetes mellitus) and psychic (e.g., eating disorder, depression) diseases, a respective screening and an interdisciplinary treatment are required.

Vomiting and feeling fat--coincidence of achalasia and bulimia nervosa.

OBJECTIVE: In clinical practice it is often difficult to distinguish between organic and psychological vomiting. METHOD: We present a case of a 34-year-old woman with an 18-month history of vomiting with the initial diagnosis of bulimia nervosa (BN). However, the patient showed an unusual vomiting behavior. Therefore, further somatic diagnostic procedures were carried out leading to the additional diagnosis of achalasia. After successful interventional and surgical treatment for achalasia, further psychotherapeutic interventions were necessary because of worsening of the BN symptoms. A certain disturbed eating behavior seemed to persist at 3-year follow-up, while the medical condition had improved. CONCLUSION: It needs to be emphasized that careful diagnostic steps are indispensable to distinguish between psychological vomiting and organic vomiting. In case of two separate diseases a suitable treatment regime for each is required.

Brain imaging of visceral functions in healthy volunteers and IBS patients.

From experience, most people know about a link between psychological processes and gastrointestinal sensory and motor functions. Cognitive processes (e.g., attention) as well as affective processes (e.g., fear) play a role in gastrointestinal sensations in healthy controls and patients with irritable bowel syndrome (IBS) alike. However, the exact nature of this relationship has not been completely understood yet. Brain imaging techniques allow for the study of brain-gut interactions in vivo. Accordingly, positron emission tomography (PET) and functional magnetic resonance imaging (fMRI) have been widely used to study neural mechanisms underlying visceral sensations. This article will summarize the results of functional brain imaging studies in healthy controls and selected studies assessing the influence of psychological processes on gastrointestinal functions. Subsequently, this article will deal with those brain areas activated by visceral stimulation in IBS patients. Special attention will be paid to recently published studies concerning psychological factors and novel research questions.

[Psychotherapy in obesity--a systematic review]. / Psychotherapie bei Adipositas--Ein systematischer Uberblick.

Obesity is a serious chronic disease, associated with severe sequelae and increased mortality rates, and therefore requires long-term care. This article gives an overview of the current state of research on psychotherapeutic treatment of obesity, focusing on behavioral approaches. Systematic well-controlled studies on humanistic and psychodynamic therapies are not available. A small number of studies on psychotherapy-related approaches, e.g. relaxation therapy or hypnotherapy, failed to demonstrate any decisive positive outcomes. While weight loss programs using methods of behavior therapy and lifestyle modification approaches result, on the average, in a short-term weight loss of 10% of the initial weight, long-term effects of such programs are disappointing. Further evidence suggests, however, that long-term maintenance programs may facilitate lasting behavioral changes of patients in their daily lives and work against weight regain. More research on effective maintenance programs is called for to further improve care of obese patients; it should lay stronger emphasis on internet-based weight maintenance programs.

Psychological burden of food allergy.

One fifth of the population report adverse reactions to food. Reasons for these symptoms are heterogeneous, varying from food allergy, food intolerance, irritable bowel syndrome to somatoform or other mental disorders. Literature reveals a large discrepancy between truly diagnosed food allergy and reports of food allergy symptoms by care seekers. In most studies currently available the characterization of patient groups is incomplete, because they did not distinguish between immunologic reactions and other kinds of food reactions. In analysing these adverse reactions, a thorough physical and psychological diagnostic approach is important. In our qualitative review, we present those diagnostic measures that are evidence-based as well as clinically useful, and discuss the various psychological dimensions of adverse reactions to food. It is important to acknowledge the complex interplay between body and mind: Adults and children suffering from food allergy show impaired quality of life and a higher level of stress and anxiety. Pavlovian conditioning of adverse reactions plays an important role in maintaining symptoms. The role of personality, mood, or anxiety in food reactions is debatable. Somatoform disorders ought to be identified early to avoid lengthy and frustrating investigations. A future task will be to improve diagnostic algorithms, to describe psychological aspects in clearly characterised patient subgroups, and to develop strategies for an optimized management of the various types of adverse reactions to food.

Localizing and lateralizing language in patients with brain tumors: feasibility of routine preoperative functional MR imaging in 81 consecutive patients.

PURPOSE: To prospectively assess the feasibility of standardized presurgical functional magnetic resonance (MR) imaging for localizing the Broca and Wernicke areas and for lateralizing language function. MATERIALS AND METHODS: The study was approved by the responsible ethics commission, and patients gave written informed consent. Eighty-one patients (36 female and 45 male patients; age range, 7-75 years) with different brain tumors underwent blood oxygen level-dependent functional MR imaging at 1.5 T with two paradigms: sentence generation (SG) and word generation (WG). Functional MR imaging measurements, data processing, and evaluation were fully standardized by using dedicated software. Four regions of interest were evaluated in each patient: the Broca and Wernicke areas and their anatomic homologues in the right hemisphere. Statistics were calculated. RESULTS: The SG and WG paradigms were successfully completed by all (100%) and 70 (86%) patients, respectively. Success rates in localizing and lateralizing language were 96% for the Broca and Wernicke areas with the SG paradigm, 81% for the Broca area and 80% for the Wernicke area with the WG paradigm, and 98% for both areas when the SG and WG paradigms were used in combination. Functional localizations were consistent for SG and WG paradigms in the inferior frontal gyrus (Broca area) and the superior temporal, supramarginal, and angular gyri (Wernicke area). Surgery was not performed in seven patients (9%) and was modified in two patients (2%) because of functional MR imaging findings. CONCLUSION: Functional MR imaging proved to be feasible during routine diagnostic neuroimaging for localizing and lateralizing language function preoperatively.

Functional cortical imaging of nausea and vomiting: a possible approach.

From a naive point of view, a study on functional cortical imaging of nausea and vomiting should deliver insight into the basic cortical mechanisms, connections, and time courses, of nausea and vomiting as perceived and processed in the human brain of affected subjects. Until now the brain's response to nausea and vomiting are only inadequately characterized, because studies have been focused mostly on understanding the different mechanisms leading to nausea rather than to cortical activations during nausea or vomiting, respectively. Consequently, the imaging of the "personal experience" of nausea and vomiting can currently be regarded as terra incognita. Nonetheless, the wide variety of the results published on diverse aspects of the topic can be helpful in providing guidelines for a paradigm to further investigations. This paper presents a brief outline for a study on the functional imaging of nauseated humans by means of functional magnetic resonance imaging (fMRI).

Gastrointestinal disturbances in eating disorders: clinical and neurobiological aspects.

Symptoms of the upper and lower gastrointestinal (gastrointestinal) tract have been described in anorexia nervosa and bulimia nervosa. Studies focusing on general outcome and medical comorbidity describe a worse outcome in the binge eating/purging subtype of anorexia nervosa compared to the restricting subtype. Both anorexia nervosa subtypes experience substantial delays in gastric emptying as well as constipation. These gastrointestinal disturbances may play a role in anorexia nervosa patients' difficulties with refeeding and weight restoration. Bulimia nervosa patients showed increased gastric emptying capacity, with delayed gastric emptying and diminished gastric relaxation. In addition, diminished release of cholecystokinin and abnormalities in enteric autonomic function were found in bulimia nervosa patients. These factors may play a role in the perpetuation of the disease. Gastrointestinal disturbances develop secondary to the disordered eating behaviour and the concomitant malnutrition and subside mostly with the resumption of normal food intake and body weight. Knowledge of these changes may be of critical importance in avoiding misdiagnosis and successful therapy.