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We report the case of an 8-year-old girl who developed progressive generalized dystonia, rendering her unable to walk and sit within months despite medical therapy with dopamine and anti-cholinergic agents. She was found to have a 9q34.1 GAG-deletion, which is known to cause DYTI-dystonia. DYT-1 dystonia is an autosomal dominant condition with incomplete penetrance that usually starts in childhood. It is known to be refractory to pharmacotherapy. Reports on deep brain stimulation in this condition reveal marked benefits of the treatment in the pediatric and adult populations. The patient underwent bilateral stimulation of the internal globus pallidus 18 months after symptom onset. Postoperatively, her clinical status improved significantly as measured by the Burke-Fahn- Marsden dystonia rating scale and the resolution of a unilateral hip dislocation. Normal participation was regained. [ABSTRACT FROM AUTHOR]

Background:  Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures. The aim of this study was to characterize the epileptic phenotype in a genotypically and radiologically well-defined patient cohort and to evaluate the response to antiseizure medication (ASM). Therefore, we retrospectively evaluated 47 patients of five genetic forms ( LIS1/PAFAH1B1 , DCX , DYNC1H1 , TUBA1A , TUBG1 ) using family questionnaires, standardized neuropediatric assessments, and patients' medical reports., Results:  All but two patients were diagnosed with epilepsy. Median age at seizure onset was 6 months (range: 2.1-42.0), starting with epileptic spasms in 70%. Standard treatment protocols with hormonal therapy (ACTH or corticosteroids) and/or vigabatrin were the most effective approach for epileptic spasms, leading to seizure control in 47%. Seizures later in the disease course were most effectively treated with valproic acid and lamotrigine, followed by vigabatrin and phenobarbital, resulting in seizure freedom in 20%. Regarding psychomotor development, lissencephaly patients presenting without epileptic spasms were significantly more likely to reach various developmental milestones compared to patients with spasms., Conclusion:  Classic lissencephaly is highly associated with drug-resistant epilepsy starting with epileptic spasms in most patients. The standard treatment protocols for infantile epileptic spasms syndrome lead to freedom from seizures in around half of the patients. Due to the association of epileptic spasms with an unfavorable course of psychomotor development, early and reliable diagnosis and treatment of spasms should be pursued. For epilepsies occurring later in childhood, ASM with valproic acid and lamotrigine, followed by vigabatrin and phenobarbital, appears to be most effective., Competing Interests: None declared., (Thieme. All rights reserved.)

Competing Interests: None declared.

Introduction: Next generation sequencing (NGS) with customized gene panels is a helpful tool to identify monogenic epilepsy syndromes. The number of genes tested within a customized panel may vary greatly. The aim of the present study was to compare the diagnostic yield of small (<25 kb) and large (>25 kb) customized epilepsy panels., Methods: This retrospective cohort study investigated data of 190 patients of 18 years or younger, with the diagnosis of an epilepsy of unknown etiology who underwent NGS using customized gene panels. Small (<25 kb) and large (>25 kb) panels were compared regarding the distribution of benign/likely benign and pathogenic/likely pathogenic variants and variants of unclear significance. In addition, differences of the diagnostic yield with respect to epilepsy severity, i.e., developmental and epileptic encephalopathy [DEE] vs. non-DEE, were analyzed., Results: The diagnostic yield defined as pathogenic or likely pathogenic variants in large panels was significantly increased (29% [ n  = 14/48] vs. 13% [ n  = 18/142], p  = 0.0198) compared with smaller panels. In non-DEE patients the increase of the diagnostic yield in large panels was significant(35% n  = 6/17 vs. 13% n  = 12/94, p  = 0.0378), which was not true for DEE patients., Discussion: This study indicates that large panels are superior for pediatric patients with epilepsy forms without encephalopathy (non-DEE). For patients suffering from DEE small panels of a maximum of 10 genes seem to be sufficient. The proportion of unclear findings increases with rising panel sizes., Conclusion: Customized epilepsy panels of >25 kb compared with smaller panels show a significant higher diagnostic yield in patients with epilepsy especially in non-DEE patients., Competing Interests: None., (Thieme. All rights reserved.)

In the 2015 mass migration from Syria and neighboring countries, Germany received an unprecedented number of 4,76,649 asylum applications. As many of the refugees arrived in Southern Germany via the Austrian border, the city of Munich was faced with the majority of Germany's inflow of war refugees and their complex health issues. Among the refugees were a high number of children. Their main health issues were infectious diseases and surgical procedures due to trauma, but we also encountered complex chronic diseases. This report describes clinical history, signs and symptoms, diagnostics, and treatment of six pediatric patients with untreated inborn errors of metabolism (IEM): phenylketonuria, biotinidase deficiency, HMG-CoA lyase deficiency, mucopolysaccharidosis type II, and mucopolysaccharidosis type VI. Since early diagnosis and treatment is essential in IEM, both delayed diagnosis and inadequate therapy in refugee children may lead to significant brain injury, organ damage, and even death. Severe neurological sequelae in both phenylketonuria and HMG-CoA lyase deficiency could have been prevented by newborn screening. Screening programs are necessary to improve the prognoses for refugee children. European Union governments and involved health care systems should pursue early diagnosis and treatment in pediatric refugees regarding IEM to prevent neurological long-term sequelae., Competing Interests: The authors declare no conflicts of interest., (Georg Thieme Verlag KG Stuttgart · New York.)

Competing Interests: Conflict of Interest: The authors report no conflict of interest which is related to the content of this study.

Active participation and the highest level of independence during daily living are primary goals in neurorehabilitation. Therefore, standing and walking are key factors in many rehabilitation programs. Despite inconclusive evidence considering the best application and efficacy of robotic tools in the field of pediatric neurorehabilitation, robotic technologies have been implemented to complement conventional therapies in recent years. A group of experienced therapists and physicians joined in an "expert panel." They compared their clinical application protocols, discussed recurring open questions, and developed experience-based recommendations for robot-assisted treadmill therapy (exemplified by the Lokomat, Hocoma, Volketswil, Switzerland) with a focus on children with cerebral palsy. Specific indications and therapeutic goals were defined considering the severity of motor impairments and the International Classification of Functioning, Disability and Health framework (ICF). After five meetings, consensus was found and recommendations for the implementation of robot-assisted treadmill therapy including postsurgery rehabilitation were proposed. This article aims to provide a comprehensive overview on therapeutical applications in a fast developing field of medicine, where scientific evidence is still scarce. These recommendations can help physicians and therapists to plan the child's individual therapy protocol of robot-assisted treadmill therapy., (Georg Thieme Verlag KG Stuttgart · New York.)

Migraine-related syndromes are a common cause of episodic vertigo and dizziness in children. Somatoform vertigo (SV) is an important cause of chronic dizziness, especially in adolescents. Our aim was to elucidate the comorbidity of migraine and SV. Three diagnostic groups were defined: migraine-related vertigo (MRV), SV, and combined migraine-related and SV (MSV). A retrospective analysis was performed on patient data (demographics, diagnosis, neuro-orthoptic and neurologic status, and results of vestibular and balance testing) from 168 patients who were presented to the German Center for Vertigo and Balance Disorders (IFB) over a 2.5-year period. Mean age of patients was 12 ± 4 years (range: 1.4 to 18 years). The most frequent diagnosis was MRV (28%), followed by MSV (19%) and SV (14%). MSV occurred most frequently in adolescent girls (25%). MRV was the most common cause of dizziness in our cohort. MSV ranked second overall but ranked first in adolescent girls, followed by isolated SV. SV was most prevalent in adolescent girls. MRV, MSV, and SV account for about 60% of diagnoses established in our tertiary referral center. Competent care of childhood migraine should include skill in detecting both the clinical symptoms of vertigo and overlapping somatoform symptoms., (Georg Thieme Verlag KG Stuttgart · New York.)

Complementary and alternative medicine (CAM) is widely used by both physicians and patients with primary headache syndromes. Despite a considerable number of articles addressing CAM in primary headache syndromes, the overall evidence for CAM is still poor. The aim of this review was to give an overview of the current evidence of the main alternative therapies used in the treatment of primary headache syndromes of childhood. MEDLINE and Cochrane Library were systematically searched for articles dealing with complementary and alternative treatment or prophylaxis of headache and migraine published within the past 20 years., (Georg Thieme Verlag KG Stuttgart · New York.)

Botulinum toxin (BoNT) is an established treatment option to reduce hypersalivation in children with chronic neurological disorders. Objective of this study was (1) to discriminate differences in efficacy and safety of repeated interventions using BoNT with a focus on different preparations used and (2) to look for effectiveness and treatment adherence from a qualitative research perspective in this single-center cohort study. We prospectively assessed goal attainment scaling, drooling severity and frequency score and the number of towels/day before, and 4 to 8 weeks after intervention. A parent questionnaire assessed therapy-related effects on quality of life retrospectively. A total of 19 out of 34 patients received repeated injections of BoNT (106 total). Mean dose: 95 units onabotulinumtoxinA (Botox®), 2383 units rimabotulinumtoxinB (Neuro-/Myobloc®). Outcome parameters showed a distinct reduction in all treatment groups with a higher efficacy of riB. The child's need for care was reduced in 79% and social interaction improved in 84%. Main reason for discontinuation was "not enough effect" and "formation of antibodies." riB showed to be more effective in reducing hypersalivation, but antibody-formation seems to be clinically relevant. Despite clinical efficacy treatment adherence is influenced by personal and environmental factors of parents and caretakers balancing the short-term clinical benefit versus the burden of intervention., (Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.)