No abstract

The subjective impact of the consequences of pediatric traumatic brain injury (pTBI) on different life dimensions should be assessed multidimensionally and as sensitively as possible using a disease-specific health-related quality of life (HRQoL) instrument. The development and psychometrics of the first such self-report questionnaire for children and adolescents after TBI are reported here. Focus group interviews with children, adolescents, and their parents, cognitive debriefing, item pool generation and reduction using Delphi expert panels were performed. The resulting version was psychometrically tested on 300 individuals aged 8–17 years. After item reduction based on factor analyses, differential item functioning, reliability, and validity were investigated. The final 35 items were associated with six scales (Cognition, Self, Daily Life and Autonomy, Social Relationships, Emotions, Physical Problems). Internal consistency and construct validity were satisfactory. Health-related Quality of life (HRQoL) was significantly lower in older and in female participants, as well as those with cognitive disabilities, anxiety, depression and post-concussion symptoms, than in comparative groups. The new QOLIBRI-KID/ADO is a comprehensive, multidimensional, reliable, and valid instrument, comparable in content and items to the QOLIBRI adult version. Therefore, disease-specific HRQoL can now be measured across the lifespan and may support the amelioration of treatment, care, rehabilitation, and daily life of children and adolescents after TBI.

Both Sulthiame and Levetiracetam influence the EEG of children with BECTS. Persistent EEG pathologies are associated with treatment failures.

MPI‐CDG (formally called CDG 1b), caused by phosphomannose isomerase (MPI) deficiency, leads to hypoglycaemia, protein losing enteropathy, hepatopathy, and thrombotic events, whereas neurologic development remains unaffected. Dietary supplementation of mannose can reverse clinical symptoms by entering the N‐glycosylation pathway downstream of MPI. When oral intake of mannose in patients with MPI‐CDG is not possible, e.g. due to surgery, mannose has to be given intravenously. We report a patient with MPI‐CDG on intravenous mannose therapy that showed severe depression of consciousness and seizures without apparent cause. EEG and cranial MRI findings were compatible with metabolic coma whereas extended laboratory examinations including repeated blood glucose measurements were normal. Importantly, an intravenous bolus of glucose immediately led to clinical recovery and EEG improvement. Mannose did not interfere with glucose measurement in our assay. We suggest that in patients with MPI‐CDG, intravenous mannose infusion can lead to intracellular ATP deprivation due to several mechanisms: (1) in MPI deficiency, mannose 6‐P cannot be isomerised to fructose 6‐P and therefore is unavailable for glycolysis; (2) animal data has shown that accumulating intracellular mannose 6‐P inhibits glycolysis; and (3) elevated intracellular mannose 6‐P may induce an ATP wasting cycle of dephosphorylation and rephosphorylation (“honey bee effect”). The mannose‐induced metabolic inhibition may be overcome by high‐dose glucose treatment. We caution that, in patients with MPI‐CDG, life‐threatening central nervous system disturbances may occur with intravenous mannose treatment. These may be due to intracellular energy failure. Clinical symptoms of energy deficiency should be treated early and aggressively with intravenous glucose regardless of blood glucose levels.

A sensitive and specific triage of patients with primary or secondary headache is a major concern in evaluating pediatric headache patients. History and physical examination are the major tools for differentiating primary headache disorders from symptomatic headaches caused by defined pathologies. If the criteria of the International Headache Society for a primary headache disorder are met, no further investigations are necessary. However, physicians should be familiar with subtle signs in history and physical examination that raise suspicion of intracranial pathology. These features, also named ?red flags? and ?relatively red flags,? are outlined in detail in this review. Any red flag should prompt neuroimaging. In case of relatively red flags, a more restrained approach can be appropriate depending on the individual setting. Excessive concerns of patients and parents regarding an underlying pathology can constitute an indication for neuroimaging. Offering neuroimaging implicates the important issues of incidental findings and of ?false reassurance.? These risks should be discussed with patients and parents before the investigation. In any pediatric headache patient, regular clinical reevaluations should be warranted, even if neuroimaging is normal. The value of clinical follow-up examinations for a reasonable and reliable assessment of the patients cannot be overestimated.