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Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of OFD VI in JSRD. We studied the clinical, neurodevelopmental, neuroimaging, and genetic findings in a cohort of 16 patients with OFD VI. We derived the following inclusion criteria from the literature: 1) MTS and one oral finding and polydactyly, or 2) MTS and more than one typical oral finding. The OFD VI neuroimaging pattern was found to be more severe than in other JSRD subgroups and includes severe hypoplasia of the cerebellar vermis, hypoplastic and dysplastic cerebellar hemispheres, marked enlargement of the posterior fossa, increased retrocerebellar collection of cerebrospinal fluid, abnormal brainstem, and frequently supratentorial abnormalities that occasionally include characteristic hypothalamic hamartomas. Additionally, two new JSRD neuroimaging findings (ascending superior cerebellar peduncles and fused thalami) have been identified. Tongue hamartomas, additional frenula, upper lip notch, and mesoaxial polydactyly are specific findings in OFD VI, while cleft lip/palate and other types of polydactyly of hands and feet are not specific. Involvement of other organs may include ocular findings, particularly colobomas. The majority of the patients have absent motor development and profound cognitive impairment. In OFD VI, normal cognitive functions are possible, but exceptional. Sequencing of known JSRD genes in most patients failed to detect pathogenetic mutations, therefore the genetic basis of OFD VI remains unknown. Compared with other JSRD subgroups, the neurological findings and impairment of motor development and cognitive functions in OFD VI are significantly worse, suggesting a correlation with the more severe neuroimaging findings. Based on the literature and this study we suggest as diagnostic criteria for OFD VI: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of one or more hands or feet; 3) hypothalamic hamartoma.

We conducted a retrospective multicenter study on children who had been included in eight studies published between November 2001 and July 2010 to explore the correlations between burst-suppression coma (BSC) with outcome in febrile infection-related epilepsy syndrome (FIRES). The 77 enrolled patients presented with prolonged refractory status epilepticus. BSC was induced in 46 patients. Cognitive levels at follow-up were significantly associated with duration of a BSC (p=0.005). The outcome of FIRES is poor. Treatment by inducing a prolonged BSC was associated with a worse cognitive outcome.

Antiepileptic treatment response has been suggested to be modulated by genetic polymorphisms of drug efflux transporters, in particular ABCB1. Recently, we found a significant association of ABCC2 -24CT with nonresponse, primarily in the context of generalized epilepsy. Moreover, ABCC2 1249GA was reported to alter transmembranal carbamazepine transport. Therefore, we aimed to confirm the association of ABCC2 variants with pharmacotherapy-resistance in Caucasians mainly affected by partial epilepsy.A total of 208 patients (114 male; age: 11.3±5.9 years) were genotyped for three putatively functionally relevant polymorphisms of ABCC2 (-24CT, 1249GA, 3972CT). Genotype and haplotype frequencies were compared between responders and nonresponders to first-line antiepileptic treatment.Carriers of the ABCC2 1249GA variant (417VI) were more frequent among responders [odds ratio (OR)=2.68 (1.25-5.78); P=0.010]. This association remained significant after adjusting for age, sex and seizure type, [OR=2.88 (1.23-6.73); P=0.015]. The impact of 1249GA was more pronounced among 64 patients receiving carbamazepine or oxcarbazepine (P=0.005), but nonsignificant in patients receiving other anticonvulsants. ABCC2 -24CT and 3972CT showed lack of association to therapy response. Haplotype analyses revealed that haplotype H2 containing solely the 1249A variant allele was more frequent in the responder group [OR=2.98 (1.38-6.44); P=0.004].These data argue for a greater probability of antiepileptic drug response among carriers of the ABCC2 1249A variant that is associated with reduced carbamazepine transport. Although we could not confirm an impact of ABCC2 -24CT, these results suggest that ABCC2 genotype may also modulate the response to anticonvulsants besides the extensively studied ABCB1 (P-glycoprotein).

Introduction We evaluated the long-term efficacy and tolerability of the orphan drug rufinamide (RUF) in children with pharmacoresistant myoclonic-astatic epilepsy (MAE, Doose syndrome). Methods This was a retrospective European multicenter study on eight patients who had started an intention-to-treat trial of RUF between July 2007 and June 2010. Clinical information was collected via questionnaire. Responder rate was defined as reduction of seizure frequency ≥50% in comparison to four weeks before starting RUF. Maximum follow-up was eighteen months. Results Responder rates were 7/8 patients after 3 months, 6/8 patients after 6 months and 5/8 patients after 12 months. RUF seemed particularly effective in the prevention of myoclonic-astatic seizures (comparable with drop attacks in Lennox-Gastaut-Syndrome, for which RUF is particularly effective). Some loss of efficacy was noticed in the long-term observation. Side-effects occurred in two patients. Seizure aggravation was not observed. Conclusion RUF seems to be a promising therapeutic option in children with MAE. Further studies are warranted to confirm these first observations.

Although Lennox-Gastaut syndrome (LGS) typically begins during childhood, it frequently persists through adolescence and on into adulthood. It may also, rarely, have late onset during adolescence or adulthood. Longitudinal studies have highlighted that the "typical" features of LGS observed during childhood evolve and change over time, so that by adulthood it might be difficult to recognise LGS in previously undiagnosed patients. Approaches to treatment must therefore adapt to the changes in a patient's condition as they progress through life. Effective management of LGS requires a global approach to care that not only encompasses seizure control, but also the management of co-morbidities associated with the condition, such as cognitive and behavioural problems, sleep disturbances and physical disability, together with the specific educational and psychosocial needs of the individual. This is particularly relevant during adolescence, when patients have to cope with a host of additional issues alongside those relating to their epilepsy. During all stages of life, management of LGS must carefully balance the need for treatment against its side effects, with the patient's overall quality of life always being the primary focus. The transition of care from paediatric to adult services presents important challenges for patients, their families and healthcare providers, and requires particular consideration to ensure that it is as smooth as possible. It also presents an important opportunity to review and reappraise a patient's condition, treatment and other longer-term needs as they journey into adulthood.

Background Submicroscopic deletions in 14q12 spanning FOXG1 or intragenic mutations have been reported in patients with a developmental disorder described as a congenital variant of Rett syndrome. This study aimed to further characterise and delineate the phenotype of FOXG1 mutation positive patients. Method The study mapped the breakpoints of a 2;14 translocation by fluorescence in situ hybridisation and analysed three chromosome rearrangements in 14q12 by cytogenetic analysis and/or array comparative genomic hybridisation. The FOXG1 gene was sequenced in 210 patients, including 129 patients with unexplained developmental disorders and 81 MECP2 mutation negative individuals. Results One known mutation, seen in two patients, and nine novel mutations of FOXG1 including two deletions, two chromosome rearrangements disrupting or displacing putative cis -regulatory elements from FOXG1 , and seven sequence changes, are reported. Analysis of 11 patients in this study, and a further 15 patients reported in the literature, demonstrates a complex constellation of features including mild postnatal growth deficiency, severe postnatal microcephaly, severe mental retardation with absent language development, deficient social reciprocity resembling autism, combined stereotypies and frank dyskinesias, epilepsy, poor sleep patterns, irritability in infancy, unexplained episodes of crying, recurrent aspiration, and gastro-oesophageal reflux. Brain imaging studies reveal simplified gyral pattern and reduced white matter volume in the frontal lobes, corpus callosum hypogenesis, and variable mild frontal pachgyria. Conclusions These findings have significantly expanded the number of FOXG1 mutations and identified two affecting possible cis -regulatory elements. While the phenotype of the patients overlaps both classic and congenital Rett syndrome, extensive clinical evaluation demonstrates a distinctive and clinically recognisable phenotype which the authors suggest designating as the FOXG1 syndrome.

The syndrome of malignant migrating partial seizures of infancy (MMPEI) is characterized by early onset of multiple seizures types, highly pharmaco-resistant seizures, and overall poor prognosis. In this study, we investigated retrospectively the efficacy of rufinamide (RUF) in five infants with MMPEI, by examining seizure type and frequency, EEG features and antiepileptic drug use. The data demonstrate that two of the five patients showed good efficacy and tolerability for RUF with a 50% reduction in seizure frequency. The use of RUF for the treatment of MMPEI may therefore provide some hope for such infants and should be further validated. [Published with video sequences].

OBJECTIVE: Limbic encephalitis is rare in people

Background: Epilepsy with myoclonic absences (EMA) is a rare epileptic syndrome with frequently poor response to antiepileptic treatment. Rufinamide (RUF) is a relatively new EMEA- and FDA-approved anticonvulsant licensed as an orphan drug for the adjunctive treatment of patients with Lennox-Gastaut syndrome. Methods: A retrospective data analysis in 3 patients was performed. Results: Add-on RUF treatment was initiated in 3 boys with EMA refractory to conventional antiepileptic therapy (primidone + valproic acid, n=1; levetiracetame + ethosuximide, n=2). It resulted in complete cessation of all seizures in 2, and a 50% reduction of the seizure frequency in one child, respectively. Conclusions: RUF add-on therapy should be considered in children with EMA not responding to conventional antiepileptic therapy.

Aims: Regarding epilepsy and its therapeutic options in children with methylmalonic aciduria there are only case reports (1–3). Rufinamide (RUF) itself is an „orphan drug“ licensed for add-on therapy in patients with Lennox-Gastaut-Syndrome. Case report:: 3.5 year-old boy: birth after uneventful pregnancy on date; normal early psychomotor development until 11th month. First metabolic crisis in the course of a viral infection and diagnosis of methylmalonic aciduria. Restitutio ad integrum. With 2.5 years after measles-mumps-rubella vaccination second metabolic crisis with vast metabolic stroke in the area of the left hemisphere. In MRI/T2W symmetrical signal intensity in putamen and nucleus caudatus together with atrophy of the left brain parenchyma. Consecutively the patient developed a right-sided hemi pareses (leg > arm), aphasia together with a pharmacoresistant epilepsy with up to 20 atonic drop attacks/d and a electroencephalographic Status epilepticus. Therefore together with the registration for a video-EEG-intensive-monitoring an add-on therapy with rufinamide was started to the existing anticonvulsive drugs valproic acid and oxcarbamazepine. Results: A few days after starting therapy with rufinamide notable reduction in seizure frequency. Since two weeks after obtaining the final dose of 28mg/kg/d the patient has remained seizure free for six month, the electroencephalographic Status epilepticus has disappeared and the boy starts to show some progress in his psychomotor development. Valproic acid treatment could be stopped, oxcarbamazepine and is to be gradually discontinued. Discussion: Differing to the treatment indication a therapy with rufinamide was started in a pharmacoresistant epilepsy with numerous atonic drop attacks before a neurosurgical option. The therapy showed a very good effect, similar to ethosuximide in drop attacks with negative epileptic myoclonus. The few studies regarding rufinamide suggest a possible therapeutic effect in drop attacks of different aetiology, with possibly less effect in symptomatic focal epilepsy. For further valuation more case reports and multicenter-studies are important under observance of the limited treatment indication, to gain knowledge of possible further mechanism of action of rufinamide. Literature: [1] Guevara-Campos J, Gonzalez-de-Guevara L, Medina-Atopo M. Methylmalonic aciduria associated with myoclonic convulsions, psychomotor retardation and hypsarrhythmia; Rev Neurol. 2003 Apr; 36(8):735–7. [2] Aikoh H, Sasaki M, Sugai K, Yoshida H, Sakuragawa N. Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia. Brain Dev. 1997 Nov;19(7):502–5. [3] Ye J, Li CJ, Liu JH. A clinical analysis of methylmalonic academia in adolescents. Zhonghua Nei Ke Za Zhi. 2008 Oct;47(10):823–5

Encephalitis is generally presumed, even when seizures follow banal febrile infection, and pathogen detection in cerebrospinal fluid fails. This retrospective multicenter case series reports on 22 previously healthy children aged 3-15 years (median 6.5 years) with prolonged or recurrent seizures occurring 2-14 days (median 5 days) after fever onset (19 children with respiratory or nonspecific infections). Cerebrospinal fluid studies revealed 2-42 cells/microl (median 5 cells/microl) and no pathogens. Electroencephalography showed diffuse slowing or multifocal discharges. Neuroimaging demonstrated normal findings in 10 children. Brain biopsies were performed in seven children showing gliosis but no inflammation. Anesthetic barbiturates were used in 14 children with refractory status epilepticus, and immunotherapy in 9. Two children died, eight remained in a state of impaired consciousness, eight developed therapy-refractory epilepsies, two had behavioral disturbances, and two recovered. The lack of evidence for encephalitis suggests another infection-related pathogenesis of this disastrous epileptic encephalopathy. Therefore, we propose the term "febrile infection-related epilepsy syndrome" (FIRES).

Several recent studies have shown that levetiracetam (LEV) can be beneficial in the treatment of children with typical rolandic epilepsy (RE). Reports about the effectiveness of LEV in the treatment of children with the less benign variants in the spectrum of "benign" idiopathic focal epilepsies are still rare. Little is known about the effect of LEV on interictal epileptiform discharges in these syndromes. We report on LEV therapy in 32 children (mean age: 10.6 years, range: 4-14) with RE or variants like atypical benign idiopathic partial epilepsy of childhood (ABIPEC), Landau-Kleffner syndrome (LKS), and continuous spikes and waves during sleep (CSWS) and in children with benign idiopathic focal epileptiform discharges of childhood (BIFEDC). Cognitive and behavioral problems, not seizures, may be related to the pathological EEG. Patients with a reduction in seizure frequency >50% and/or reduction in BIFEDC >90% 3 months after having started LEV therapy were defined as responders. The average dose of LEV was 39 mg/kg body wt per day; LEV was given in monotherapy to 31.3% of the patients. Overall, 20 of 32 patients (62.5%) did benefit: 12 of 24 patients had a >50% reduction in seizure frequency; 2 of 24 patients (8.3%) were completely seizure free; 18 of 32 patients (56.3%) had a >90% reduction in BIFEDC (including CSWS); 6 of 32 (18.8%) had an EEG completely free of epileptiform discharges; and 17 of 32 (53.1%) showed improvement in cognition and/or language functions and/or behavior. Surprisingly, LEV tended to be more helpful in atypical rolandic epilepsies and other variants.

Lennox-Gastaut syndrome is one of the most severe epileptic encephalopathies of childhood onset. The cause of this syndrome can be symptomatic (ie, secondary to an underlying brain disorder) or cryptogenic (ie, has no known cause). Although Lennox-Gastaut syndrome is commonly characterised by a triad of signs, which include multiple seizure types, slow spike-wave complexes on electroencephalographic (EEG) recordings, and impairment of cognitive function, there is debate with regard to the precise limits, cause, and diagnosis of the syndrome. Tonic seizures, which are thought to be a characteristic sign of Lennox-Gastaut syndrome, are not present at onset and the EEG features are not pathognomonic of the disorder. There are few effective treatment options for the multiple seizures and comorbidities, and the long-term outlook is poor for most patients. Probably as a result of the complexity of the disorder, only a few randomised trials have studied Lennox-Gastaut syndrome, and thus many of the drugs that are more commonly used have little or no supporting evidence base from controlled trials. In this Review, we discuss the main issues with regard to the diagnosis and treatment options available. We also suggest key considerations for future trials and highlight the importance of a comprehensive approach to the assessment and management of this syndrome.

Objective The aim of the study was to explore the effectiveness and tolerability of rufinamide in a heterogeneous group of patients with refractory epilepsies in Europe, immediately after the drug became available as an orphan drug for the adjunctive treatment of Lennox–Gastaut syndrome (LGS). Methods This observational study was conducted as a collection of retrospective data from multiple centers in Germany and Austria. Clinical course in patients treated with rufinamide was documented. Initial dosage and titration schedule of rufinamide were at the discretion of the treating physician according to medical need. The observation period was 12 weeks. Effectiveness was evaluated by comparing the frequency of seizures with limitations to the countability between baseline and the last 4-week period of observation. Results The study population consisted of 45 children and 15 adults (mean age: 14.5 ± 11.6 years, range: 1–50) with various severe and inadequately controlled epilepsy syndromes, that is, LGS ( n = 31), idiopathic generalized epilepsy syndromes ( n = 5), cryptogenic unclassified generalized epilepsy ( n = 7), and partial epilepsy ( n = 17). The response rate (⩾50% reduction in countable seizures) was 46.7% (28 of 60 patients) in total; 25.0% experienced a ⩾75% reduction in seizure frequency and 21.7% experienced a 50–75% reduction. Complete seizure control was achieved by 8.3%. The highest response rate was observed in patients with LGS (17/31, 54.8%), and the lowest in patients with partial epilepsy (4/17, 23.5%). Response rate in patients with unclassified generalized epilepsy was 42.8% (3/7 patients). A total of 67 adverse events were reported by 35 of 60 patients. The most frequently occurring adverse events were fatigue (18.3%), vomiting (13.3%), and loss of appetite (10.0%). No serious adverse events were observed. Conclusions These preliminary data suggest that rufinamide may be effective and well tolerated in the treatment of children and adults with various epilepsy syndromes and difficult-to-control seizures. The results of our study suggest that the efficacy of rufinamide in patients with generalized epilepsy might be comparable to that in patients with LGS, whereas rufinamide was less effective in patients with partial epilepsy.

Valproic acid (VPA) is an antiepileptic drug (AED) commonly used for generalized and focal epilepsies. We provide an update on hepatotoxic side effects in Germany between 1994 and 2003.We mailed a questionnaire to all members of the German Section of the International League Against Epilepsy, asking for VPA-induced side effects, especially severe side effects such as hepatopathy.As a result of our questionnaire, we found 31 cases of reversible hepatotoxicity and nine cases of lethal hepatopathies in Germany from 1994 to 2003.The outcome of patients with severe hepatotoxicity is better than that in the past. The risk of a VPA-induced hepatopathy is not limited to patients younger than 2 years, receiving polytherapy, or patients with congenital or acquired metabolic diseases.

Objective COL4A1 mutations disrupt the integrity of basement membranes and therefore predispose to a broad spectrum of disorders affecting multiple organ systems, but most notably causing cerebral small vessel disease. There is little data on epilepsy in these patients. The aim of our study was to describe characteristics of epilepsy in patients with COL4A1-mutations including therapeutical aspects, to establish diagnostic criteria on the basis of typical MRI findings and to evaluate co-morbidities. Patients and methods Data was collected retrospectively by attending physicians via standardized questionnaires. MRI images were reviewed by one experienced pediatric radiologist in our centre (PW). Results All 6 patients had history of pre- or perinatal stroke or cerebral hemorrhage and later showed impairment of cognitive functions and motor development. Epilepsy in all patients manifested within the first year of life (3–10 months, mean: 6 months). Multiple antiepileptic drugs were administered (4–11; mean: 6.3); among those, valproic acid (4/6) and vigabatrin (4/6) proved effective whereas oxcarbazepine had aggravating effects in 2/6 patients. All patients showed co-morbidities such as ophthalmological disorders (6/6), microcephaly (6/6), and elevation of plasma creatine kinase levels (4/6). We identified generalized leukomalacia in one or both cerebral hemispheres, focal cystlike white matter defects and focal or multifocal (susceptibility-related) residual signs of hemorrhage/hemosiderin deposition not related to arterial infarction as concordant MRI findings in all 6 patients. Conclusion COL4A1 mutations should be considered as differential diagnosis in children with history of pre-/perinatal stroke or cerebral hemorrhage, impairment of cognitive and motor development and epilepsy. Despite the heterogeneity of the clinical phenotype, typical MRI findings and co-morbidities can lead to the correct diagnosis. Epilepsy in our patients with COL4A1-mutations manifested in the first year of life; in the small collective of our ongoing study, valproic acid and vigabatrin were the most effective antiepileptic drugs.

Patients: 2 healthy children (one boy and one girl) developed at the ages of 28 and 13 months respectively long lasting status epilepticus following viral infections, which led to long term ventilation, cardiovascular failure and cerebral oedema, and as a result of this severe sequela. In both patients SCN1A mutations (truncated mutations, Arg 1235x and Arg535fsX540) were detected later on. Drug therapy in both children consisted of intravenous phenytoin, clonidin, propofol, thiopental and catecholamine, all with a mode of action on sodium channels.

Background It is known that most adult patients with epilepsy often have poor knowledge of their disorder, treatment options, and social and vocational consequences, despite the huge amount of information available. Being pressed for time, health care professionals often are not able to provide the repetitive counseling and instruction necessary to address epilepsy care adequately. Therefore educational programs are considered extremely important in filling the gap. Method For German-speaking countries, two educational programs called famoses, modulares Schulungsprogramm Epilepsie fűr Familien [modular service package epilepsy for families], were developed by a multidisciplinary group of neuropediatricians, psychologists, social workers, and educators. The aims of the famoses programs are to improve children’s and parents’ knowledge about epilepsy and to help patients of childhood age and their parents achieve a better understanding of their disease, gain more self-confidence, and reduce specific fears regarding epilepsy. famoses comprises two different educational programs: famoses for kids with epilepsy within the developmental period of ages 7 to 13, and famoses for parents or caretakers. The programs are designed for interactive small-group education. Results The child-centered educational program is based on a fictional story: The children are sailors on a virtual cruise, sailing from island to island, accompanied by educated trainers. On each island there is something new to discover about epilepsy. The parent (and caretaker)-centered educational program covers different topics—overview and content of the program, basic knowledge, diagnostics, therapy, prognosis and development, and living with epilepsy—within six modules. The program was implemented in Germany and Switzerland in the spring of 2005 and is now operating in different epilepsy centers. Conclusion Within comprehensive therapeutic management of epilepsy, educational programs for patients, and for parents (caretakers) of children with epilepsy, are considered to be extremely important. Such educational programs have two main goals: to increase knowledge about the disorder, and to strengthen the patients’ responsibility for themselves, with the consequence of living with as few limitations as possible. famoses is an effective component of this comprehensive care. The program has been operating successfully in different epilepsy centers in Germany and Switzerland since the spring of 2005.

Human leukocyte antigen (HLA)-B51 has been suggested as an immunogenetic marker for a genetic predisposition to vascular occlusion in response to an immunological stimulus. Varicella has been reported to be a possible risk factor for stroke. We performed DNA-based HLA typing in 11 young patients (mean age: 5.2 years) with unexplained ischaemic stroke. In eight of them varicella had occurred before their stroke. HLA-B51 was negative in all 11 patients and we did not find any significant accumulation of other HLA-subgroups. Our study does not support an association between susceptibility to stroke after varicella and HLA-B51.

Heterotopic ossification, or myositis ossificans, denotes true bone in an abnormal place. The pathogenic mechanism is still unclear. A total of 643 patients (mean age, 9.1 years) admitted for neuropediatric rehabilitation were analyzed retrospectively with respect to the existence of neurogenic heterotopic ossification. The purpose of this study was to obtain information about incidence, etiology, clinical aspect, and consequences for diagnosis and therapy of this condition in childhood and adolescence. Heterotopic ossification was diagnosed in 32 patients (mean age, 14.8 years) with average time of onset of 4 months after traumatic brain injury, near drowning, strangulation, cerebral hemorrhage, hydrocephalus, or spinal cord injury. The sex ratio was not significant. In contrast to what has been found in adult studies, serum alkaline phosphatase was not elevated during heterotopic ossification formation. A persistent vegetative state for longer than 30 days proved to be a significant risk factor for heterotopic ossification. The incidence of neurogenic heterotopic ossification in children seems to be lower than in adults. A genetic predisposition to heterotopic ossification is suspected but not proven. As a prophylactic regimen against heterotopic ossification we use salicylates for those patients in a coma or persistent vegetative state with warm and painful swelling of a joint and consider continuous intrathecal baclofen infusion and botulinum toxin injection for those patients with severe spasticity. We prefer to wait at least 1 year after trauma before excision of heterotopic ossification. ( J Child Neurol 2000;15:406-413).

ZusammenfassungThema: Epilepsie und geistige Behinderung gehören zu den häufigsten Komorbiditäten bei Autismus. Die Besonderheiten der Epilepsien bei autistischen Kindern mit geistiger Behinderung und ihre Bedeutung für Symptomatik und Behandlungsbedarf werden dargestellt. Material: Verwendet werden die neurologisch-epileptologischen und psychiatrischen Daten von 60 Kindern mit Autismus, Epilepsie und geistiger Behinderung (12,5% von 477 autistischen Kindern). Ergebnisse: Merkmale der Epilepsiesyndrome bei Autismus sind ein früher Epilepsiebeginn (57% < 3 Jahre), eine Häufung spezifischer Epilepsiesyndrome (43% symptomatisch fokale Epilepsien) und Lokalisationen epileptischer Foki (41% rechts; 74% frontal). Die Komorbidität von Autismus und Epilepsie geht einher mit einem gehäuften Auftreten schwerer geistiger Behinderung (> 40%) und expansiver Verhaltensstörungen. Schlussfolgerungen: Patienten mit der Kombination von Autismus, Epilepsie und geistiger Behinderung müssen aufgrund ihrer schweren Beeinträchtigung und komplexen Symptomatik und ihres umfassenden Versorgungsbedarfs in enger Kooperation von Neuropädiatrie und Kinder- und Jugendpsychiatrie behandelt werden.

Eine neuropadiatrisch-psychiatrische Komorbiditat ist ein haufiges, fur Krankheitsbilder wie Autismus und Epilepsie bereits beschriebenes Phanomen. Anhand der Daten von 176 gemeinsamen Patienten stellen wir Diagnosespektren dar und diskutieren deren therapeutische Konsequenzen. Es zeigt sich eine erhebliche Bedeutung des Intelligenzniveaus fur die therapeutischen Bedurfnisse. Typische Diagnosespektren uber die oben genannten Kombinationen hinaus konnen aufgezeigt werden. Sozialverhaltensstorungen spielen bei neuropadiatrischen Patienten eine grose Rolle. Eine fruhzeitige gemeinsame Behandlung im Rahmen einer strukturierten Kooperation ist daher sinnvoll. Neuropediatric-psychiatric comorbidity is a frequent phenomenon typically described in the clinical entity autism and epilepsy. The obvious influence of the level of intelligence on the type of the psychiatric diagnosis is also described. The data of 176 commonly patients attended patients illustrate complex diagnosis spectra other than the above-mentioned combination, e. g. the association not only of epilepsy but of structural brain damage or cerebral palsy with conduct disorders. The therapeutic consequences with respect to drug and patient management are discussed. The intelligence level is of considerable importance for the planning of interventions because of its association with impulse control disorders. The results show that attention disorders and conduct disorders play a major role in neuropediatric patients. An early and common patient management within a structured cooperation should be the consequence of these results.