Guillain–Barré syndrome (GBS) is an acute, immune-mediated, postinfectious polyneuropathy with symmetrical ascending weakness, diminished deep tendon reflexes, and nonspecific sensory symptoms. CSF protein is raised with normal or only slightly elevated cell count. Based on electrophysiological and pathological findings, a demyelinating variant (acute inflammatory demyelinating polyneuropathy, AIDP) and an axonal variant (acute motor axonal neuropathy, AMAN) can be differentiated. Molecular mimicry with common epitopes between infective agents and peripheral nerves is discussed as an important pathophysiological principle. The symptoms progress for a mean of 10 days (up to 4 weeks) and after a plateau of 1–2 weeks remit spontaneously. At the height of the disease 60% of children are unable to walk and 10–15% need artificial ventilation. Treatment with plasmapheresis and intravenous immunoglobulins (IVIG) has been proven in placebo-controlled studies in adults with severe disease to speed up recovery significantly. In children, mostly open studies have shown similar treatment effects, although their spontaneous course is frequently less severe. Children with GBS should be treated with IVIG when they have lost the ability to walk, or when they are still deteriorating significantly and are expected to lose the ability to walk. The long-term prognosis is more favorable than that in adults. Whereas 25% of patients maintain mild neurological symptoms and signs, disability in the long term is very rare and usually due to complications such as myelitic involvement or chronic inflammatory demyelinating polyneuropathy (CIDP).

Covers the complete spectrum of paediatric neurology, which has become increasingly more complex in recent years. It is written by 69 experts from all over the world, each one of them leading authorities in their specialized field.

Entwicklungsstörungen zeigen sich in der Regel früh in der Entwicklung eines Menschen und sind lebenslang im Sinne persönlichkeitsstruktureller Merkmale vorhanden, die von leichter Beeinträchtigung bis zu schwerer Behinderung reichen können. Sie liegen allen weiteren biografischen, psychodynamischen und psychobiologischen Prozessen zugrunde. Autismus, ADHS, Tic-Störungen und Intelligenzminderungen sind dabei oft mit einem spezifischen Stärken- und Schwächenprofil verbunden und gehen mit typischen psychosozialen und sozialkommunikativen Problem- und Konfliktkonstellationen einher. Diese wiederum können sekundär zu psychischen Belastungen und Störungen wie Depressionen, Ängsten oder einem mangelnden Selbstwertgefühl führen. In den Diagnosesystemen DSM-5 und ICD-11 wird diesem Faktum erstmalig Rechnung getragen, indem die Entwicklungsstörungen allen anderen psychischen Störungen vorangestellt wurden. Dieses interdisziplinäre Herausgeberwerk schließt eine Lücke, indem es die Thematik erstmals aus der Perspektive der Kinder-, Jugend- und Erwachsenenpsychiatrie, -psychotherapie und -psychosomatik beleuchtet. Das umfassende Werk stellt die verschiedenen Formen in ihrer Entwicklungsgeschichte vor und gibt einen Überblick über wirksame psychotherapeutische, pharmakologische und sozialpsychiatrische Interventionsmöglichkeiten.

Abstract: Objectives: The manuscript serves as an update on the current management practices for infantile spasm syndrome (ISS). It includes a detailed summary of the level of current evidence of different treatment options for ISS and gives recommendations for the treatment and care of patients with ISS. Methods: A literature search was performed using the Cochrane and Medline Databases (2014-July 2020). All studies were objectively rated using the Scottish Intercollegiate Guidelines Network. For recommendations, the evidence from these studies was combined with the evidence from studies used in the 2014 guideline. Recommendations: If ISS is suspected, EEG should be performed within a few days and, if confirmed, treatment should be initiated immediately. Response to first-line treatment should be evaluated clinically and electroencephalographically after 14 days. The preferred first-line treatment for ISS consists of either hormone-based monotherapy (ACTH or prednisolone) or a combination of hormone and vigabatrin. Children with tuberous sclerosis complex and those with contraindications against hormone treatment should be treated with vigabatrin. If first-line drugs are ineffective, second-line treatment options such as ketogenic dietary therapies, sulthiame, topiramate, valproate, zonisamide, or benzodiazepines should be considered. Children refractory to drug therapy should be evaluated early for epilepsy surgery, especially if focal brain lesions are present. Parents should be informed about the disease, the efficacy and adverse effects of the medication, and support options for the family. Regular follow-up controls are recommended

Abstract: Guillain-Barré syndrome (GBS) is an immune-mediated polyradiculoneuropathy frequently preceded by an infection with Campylobacter jejuni or nonspecific infections, and rarely by a vaccination. Due to a lack of a pathognomonic finding or biomarker, its diagnosis is based on a typical constellation of clinical and paraclinical symptoms and findings. The Brighton Collaboration GBS Working Group published in 2011 GBS case definitions and guidelines for diagnosis to improve the registration of GBS cases occurring in conjunction with vaccination programs worldwide. We applied these criteria to two historical studies on GBS in children and adolescents performed retrospectively from 1989 to 1994 and prospectively from 1998 to 2002. The clinical criteria were met in 91% of the retrospective and all of the prospective cases. CSF investigations were conducted in all patients and revealed cytoalbuminologic dissociation in 80% of the retrospective and 75% of the prospective cohort. Nerve conduction studies were performed in 61% and 69% of the cohorts, respectively, and were pathological in 92% each. The Brighton criteria are well suited to capture GBS in retro- and prospective studies. However, because they are designed to diagnose classical symmetric and ascending GBS and Fisher syndrome, very rare topographical variants of GBS such as the pharyngo-cervico-brachial variant and others could be missed

Abstract: Background Guillain-Barré syndrome (GBS) has a highly variable clinical course and outcome as indicated by the risk of developing respiratory failure and residual inability to walk. Prognostic models as Erasmus GBS Respiratory Insufficiency Score (EGRIS) developed in adult patients are inaccurate in children. Our aim was to determine the prognostic factors of respiratory failure and inability to walk in children with GBS and to develop a new clinical prognostic model for individual patients (EGRIS-Kids). Methods A multicenter retrospective cohort study was performed using the data of children (younger than 18 years) fulfilling the diagnostic criteria for GBS from the NINDS. This study was performed in two independent cohorts from centers in Germany, Switzerland, Austria (N = 265, collected 1989-2002) and The Netherlands (N = 156, collected 1987-2016). The predicted main outcomes were occurrence of respiratory failure during the disease course and inability to walk independent at one year after diagnosis. Results In the combined cohort of 421 children, 79 (19%) required mechanical ventilation and one patient died. The EGRIS-kids was developed including: age, cranial nerve involvement and GBS disability score at admission, resulting in a 9 point score predicting risks of respiratory failure ranging from 4 to 50% (AUC = 0.71). A lower GBS disability score at nadir was the strongest predictor of recovery to independent walking (at one month: OR 0.43 95%CI 0.25-0.74). Conclusions EGRIS-Kids and GBS disability score at admission accurately predict the risk of respiratory failure and inability to walk respectively in children with GBS, as tools to personalize the monitoring and treatment

Abstract: Copy number variants (CNV) are established risk factors for neurodevelopmental disorders with seizures or epilepsy. With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of which are novel for seizure disorders, such as deletions at 1p36.33, 1q44, 2p21-p16.3, 3q29, 8p23.3-p23.2, 9p24.3, 10q26.3, 15q11.2, 15q12-q13.1, 16p12.2, 17q21.31, duplications at 2q13, 9q34.3, 16p13.3, 17q12, 19p13.3, 20q13.33, and reciprocal CNVs at 16p11.2, and 22q11.21. Using genetic data from additional 248,751 individuals with 23 neuropsychiatric phenotypes, we explored the pleiotropy of these 25 loci. Finally, in a subset of individuals with epilepsy and detailed clinical data available, we performed phenome-wide association analyses between individual CNVs and clinical annotations categorized through the Human Phenotype Ontology (HPO). For six CNVs, we identified 19 significant associations with specific HPO terms and generated, for all CNVs, phenotype signatures across 17 clinical categories relevant for epileptologists. This is the most comprehensive investigation of CNVs in epilepsy and related seizure disorders, with potential implications for clinical practice