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Purpose Endoscopic third ventriculostomy (ETV) and ventriculoperitoneal shunting are well-established treatments of obstructive hydrocephalus (HCP) in adult and pediatric patients. However, there is a lack of data with regard to the quality of life (QoL) of these patients during long-term follow-up Methods Inclusion criteria were pediatric patients with endoscopic treatment of hydrocephalus at the University Medicine Greifswald between 1993 and 2016. Patients older than 14 years at present were assessed with the Short Form-12 (SF-12) questionnaire. Patients younger than 14 years of age were assessed with the KINDL-R questionnaire that was completed by their parents. Patients’ values were compared with the scores of a corresponding age-matched group of the healthy population and with patients who received later shunt treatment. Information about comorbidities, current symptoms, and educational level were gained by an additional part. Comparative analysis between patients with ETV success and failure (defined as shunt implantation after ETV) was performed. Results A total of 107 patients (53 m, 54f) were included. Fifty-seven/107 patients (53.3%) were considered as ETV success. Mean age at ETV was 6.9 ± 5.9 years. Fifty-four statements of 89 patients that are still alive were gained (response rate 63%). Of these, 49 questionnaires were complete and evaluable (23 m, 26f; mean age 19.8 ± 10.0 years with an average follow-up period of 13.7 ± 7.2 years). Twenty-six/49 patients (53.1%) are considered ETV success. No statistically significant differences could be obtained between patients with ETV success and ETV failure. Patients older 14 years show QoL within normal range, patients younger than 14 years show significantly lower result regarding their environment of peers and social contacts. Patients younger than 6 months at the time of ETV and patients with posthemorrhagic HCP show significantly lower physical QoL. Gait disturbance, fatigue, and seizures are associated with a lower QoL, and educational level is lower than in the normal population. Conclusions Patients who underwent ETV in childhood do not have a lower health-related QoL in general. Subsequent insertions of ventriculoperitoneal (vp) shunts do not lower QoL. Certain subgroups of the patients show lower results compared to the healthy population.

Background: Myelin oligodendrocyte glycoprotein (MOG) antibodies have been described in children with acute disseminated encephalomyelitis (ADEM), recurrent optic neuritis, neuromyelitis optica spectrum disorders and more recently in children with multiphasic disseminated encephalomyelitis (MDEM). Objective: To delineate the clinical, cerebrospinal fluid (CSF) and radiological features of paediatric MDEM with MOG antibodies. Methods: Clinical course, serum antibodies, CSF, magnetic resonance imaging (MRI) studies and outcome of paediatric MDEM patients were reviewed. Results: A total of 8 children with two or more episodes of ADEM were identified from a cohort of 295 children with acute demyelinating events. All children had persisting MOG antibodies (median titre: 1:1280). All ADEM episodes included encephalopathy, polyfocal neurological signs and a typical MRI. Apart from ADEM episodes, three children had further clinical attacks without encephalopathy. Median age at initial presentation was 3 years (range: 1–7 years) and median follow-up 4 years (range: 1–8 years). New ADEM episodes were associated with new neurological signs and new MRI lesions. Clinical outcome did range from normal (four of the eight) to mild or moderate impairment (four of the eight). A total of four children received monthly immunoglobulin treatment during the disease course. Conclusion: Children with MDEM and persisting MOG antibodies constitute a distinct entity of relapsing demyelinating events and extend the spectrum of MOG antibody–associated diseases.

BACKGROUND Aim of this study was to examine effects of an outpatient intervention program for obese children. METHOD 45 obese children were treated with a cognitive-behavioural intervention program (IG) and were compared with 21 children of a waiting list (WG). Weight, self esteem, emotional and behaviour problems were measured at the beginning (T0) and the end (of T1) of the intervention. Additionally, predictors of therapy success were examined. RESULTS The intervention program lead to a moderate reduction of weight, whereas there was no weight reduction in the waiting group. Furthermore, self esteem increased and emotional problems decreased in the IG. Neither a positive family history of obesity nor the weight at T0 did predict treatment outcome. CONCLUSION Obese children profited from the cognitive-behavioral intervention program, weight reduction was, however, only moderate. Therefore, specific predictors for therapy success should be evaluated in further studies.

Hereditary orotic aciduria is a rare metabolic disease that results from a defect of uridine-5-monophosphate synthase (UMPS). In affected patients, main clinical symptoms are a markedly increased urinary excretion of orotic acid combined with megaloblastic anemia. This report describes a new case of UMPS deficiency without megaloblastic anemia but with epilepsy.

In order to extract and to visualize qualitative information from a high-dimensional time series, we apply ideas from symbolic dynamics. Counting certain ordinal patterns in the given series, we obtain a series of matrices whose entries are symbol frequencies. This matrix series is explored by simple methods from nominal statistics and information theory. The method is applied to detect and visualize qualitative changes of EEG data related to epileptic activity.

Aicardi-Goutieres syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi-Goutieres syndrome-related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials. (c) 2015 Wiley Periodicals, Inc

Aim of this study was to examine effects of an outpatient intervention program for obese children.45 obese children were treated with a cognitive-behavioural intervention program (IG) and were compared with 21 children of a waiting list (WG). Weight, self esteem, emotional and behaviour problems were measured at the beginning (T0) and the end (of T1) of the intervention. Additionally, predictors of therapy success were examined.The intervention program lead to a moderate reduction of weight, whereas there was no weight reduction in the waiting group. Furthermore, self esteem increased and emotional problems decreased in the IG. Neither a positive family history of obesity nor the weight at T0 did predict treatment outcome.Obese children profited from the cognitive-behavioral intervention program, weight reduction was, however, only moderate. Therefore, specific predictors for therapy success should be evaluated in further studies.

The prevalence of obesity in children and young adults in Germany has dramatically increased during the last decades. We investigated the impact of an one year outpatient intervention including physical training, psychotherapy and nutrition counselling on psychological status and course of weight of 19 adolescents who were diagnosed with obesity (intervention group, IG). The following questions were of particular interest: Is there a difference between children with obesity (n = 19, mean age 12.4 years) and controls (without obesity and overweight, control group, CG, n = 38, matched for age and sex) regarding the extent of emotional and behavioural problems, self-esteem and physical complaints? Does the intervention lead to a decrease of these problems as rated by the adolescents and mothers? Can we find a significant reduction of the BMI-SDS after one year training in the IG? The group comparisons between the IG and the CG revealed lower feelings of self-esteem, more self rated physical complaints, higher values on measures of depression/anxiety and attention problems in the CBCL for children with obesity, compared with controls. After one year training adolescents' psychological well being increased significantly while the BMI-SDS only decreased moderately. We conclude that children with obesity can benefit from receiving outpatient intervention if psychological and medical aspects are considered.