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Im vorliegenden Artikel wird im Rahmen der Motorik-Modul Studie an einer Langsschnittstichprobe (Alter 4–23 Jahre) untersucht, ob und wie eine Veranderung der Korperkonstitution anhand des BMI uber einen Zeitraum von 6 Jahren die Entwicklung der motorischen Leistungsfahigkeit beeinflusst. Die langsschnittlichen Analysen zeigen, dass die Leistungssteigerung fur die Gruppe der „Ubergewichtigen“ und der „Zunehmer“ geringer ausfallt (Schereneffekt). Aus einer entwicklungsorientierten Perspektive unterstreichen die Ergebnisse somit die Wichtigkeit einer moglichst fruhzeitigen Pravention von Ubergewicht und Adipositas.

ZusammenfassungDie externe Evaluation des Modellvorhabens zur Übergewichtsprävention “Besser essen. Mehr bewegen. KINDERLEICHT-REGIONEN” (2006–2011) mit seinen 24 Modellprojekten und insgesamt 716 Maßnahmen erfolgte mittels eines multimethodischen Evaluationsdesigns. Im Rahmen einer Vorher-Nachher- Untersuchung u. a. mit Kindern und Eltern (Baseline 10 641 Kinder und 7 823 Eltern, Follow-up 7 012 Kinder und 4 148 Eltern) wurden drei Merkmale von Ernährungsund Bewegungsmaßnahmen herausgearbeitet, die positive Veränderungstrends bei Kindern ausgelöst hatten: die Kombination verhaltens- und verhältnispräventiver Elemente, längerfristige Maßnahmen und die Verzahnung von Maßnahmen aus den Bereichen Ernährung, Bewegung und Stärkung der Erziehungskompetenz.Durch die vertiefte Evaluation von Maßnahmen wurden u. a. vier Elterntypen und Möglichkeiten ihrer erfolgreichen Ansprache identifiziert. Als zentrale Erfolgsfaktoren bei der Konzepterstellung von Maßnahmen zur Prävention von Übergewicht erwiesen sich konkrete Bedarfsermittlungen vor Ort und die Beteiligung der Zielgruppen an der Maßnahmenplanung und -umsetzung (Partizipation). Zeitbegrenzt geförderte Projekte können dann in dauerhafte Strukturen überführt und damit verstetigt werden, wenn dies von Anfang an systematisch geplant und umgesetzt wird unter Berücksichtigung der herausgearbeiteten sogenannten unabdingbaren Faktoren.

Severe myoclonic epilepsy in infancy (SMEI), severe idiopathic generalized epilepsy of infancy (SIGEI) with generalized tonic clonic seizures (GTCS), and myoclonic astatic epilepsy (MAE) may show semiological overlaps. In GEFS+ families, all three phenotypes were found associated with mutations in the SCN1A gene. We analyzed the SCN1A gene in 20 patients with non-familial myoclonic astatic epilepsy -- including 12 probands of the original cohort used by Doose et al. in 1970 to delineate MAE. In addition, 18 patients with sporadic SIGEI -- mostly without myoclonic-astatic seizures -- were analyzed. Novel SCN1A mutations were found in 3 individuals. A frame shift resulting in an early premature stop codon in a now 35-year-old woman with a borderline phenotype of MAE and SIGEI (L433fsX449) was identified. A splice site variant (IVS18 + 5 G --> C) and a missense mutation in the conserved pore region (40736 C --> A; R946 S) were detected each in a child with SIGEI. We conclude that, independent of precise syndromic delineation, myoclonic-astatic seizures are not predictive of SCN1A mutations in sporadic myoclonic epilepsies of infancy and early childhood.

Atypical benign partial epilepsy of childhood (ABPE = Pseudo-Lennox syndrome) shows semiologic parallels to Lennox-Gastaut syndrome, however--besides the lack of tonic seizures--it has an entirely different etiology and prognosis. Recently Hahn et al [17] investigated the long-term evolution of 43 cases with ABPE. Symptomatology, EEG findings, and course were found to overlap with Rolandic epilepsy, Landau-Kleffner syndrome and ESES. The incidence of seizures in relatives was determined in the whole series investigated by Hahn et al [17]. Five of 56 siblings suffered from seizures (3 Rolandic seizures; one febrile convulsions; one unclassified). Three fathers reported grand mal. In 29 families of the series of Hahn et al EEG recordings were performed: 22 brothers, 19 sisters and 16 pairs of parents. In 29% of the siblings a sharp wave focus was demonstrable. The rate rose to 40% when only siblings investigated at the age of maximum expression (3 to 10 years) were considered. Sharp wave foci were mostly multifocal and indistinguishable from those observed in siblings of children with Rolandic epilepsy. Photoparoxysmal response and generalized spikes and waves during rest and hyperventilation were also found to be significantly elevated (26% and 13% respectively). We conclude that ABPE is a subgroup of idiopathic partial epilepsy of childhood (representing a less benign part of a spectrum) that has to be ranked in a continuum with Rolandic epilepsy. The different clinical phenotype might be caused by a higher expressivity of the identical genetic trait, possibly facilitated by other genetic or acquired factors. Genetic heterogeneity represents another possibility.

Photosensitivity is defined by the occurrence of spikes or spikes and waves in response to intermittent light stimulation (= photoparoxysmal response [PPR]). The EEG pattern can show a wide range of expression from solely occipital spikes to generalized irregular spikes and waves. The different types of responses represent different levels of expression of the same genetically determined trait. The photoconvulsive response of Bickford et al (7) is only a subtype of the PPR characterized by close relation to epilepsy. The average incidence of PPR is 7.6% in healthy children aged 1 to 16 years. Girls are more often affected than boys. The available data provide evidence for autosomal dominant inheritance of photosensitivity. Genetic heterogeneity must be considered. In studies starting from a neurobiological genetic point of view including the whole spectrum of PPR, the phenomenon could be shown to be a widespread condition being only loosely associated with epilepsy, but more often with symptoms of psychovegetative instability. Only about 3% of children with PPR of the given definition will manifest epilepsy up to age 20 years. According to family studies in epileptic and non-epileptic photosensitive probands, the phenotypical expression of the PPR and carriers' risk to manifest epileptic phenomena is decisively determined by other pathogenetic factors related to epilepsy. Possible interactions of photosensitivity within the multifactorial pathogenetic background of the epilepsies are reviewed.

Investigations of galvanic skin response under stress by different stimuli were carried out in 65 photosensitive and 70 non-photosensitive subjects aged 11--17 years. Photosensitive individuals at the age of 12--15 years showed a more pronounced skin reaction than non-photosensitive ones. The emotional reagibility (expressed by IE = (SEE TEXT), Traxel 1960, Stocksmeier and Langosch 1973) shows significantly higher values than in nonphotosensitive children. In addition to this, photosensitive subjects demonstrate a delayed habituation. Together with further results (Gross-Selbeck et al. 1976) the findings indicate that photosensitivity is not the isolated symptom of a genetically determined increased cerebral excitability, which can represent a factor in the pathogenesis of epilepsy for instance, but must be understood as a special characteristic of a particular constitution.

Report of follow-up studies in 65 children with occipital slow rhythms in the EEG (287 records). Two types of occipital rhythms can be differentiated: Paroxysmal bursts of 3--4/s-rhythms with high amplitude (I) accentuated by closing eyes and continuous usually regular occipital 3--4/s-rhythms (II). Type I is identical with the sinusoidal occipital 3/s-rhythms, which are observed especially frequently in childhood epilepsies. It could be demonstrated by follow-up studies, that the phenomenon usually disappears at latest during puberty. --The second type may also disappear during puberty or may even persist until the adult age. This persisting type is identical with what is quoted as "Grundrhythmusvariante" in the German literature. The continuous occipital rhythms could be demonstrated at earliest at age 3. The rhythms change their shape, amplitude, frequency and localisation during growth: In children prior to age 10 the rhythms show more often occipital accentuation in monopolar leads (against ear as reference); the amplitudes are higher on average; the frequency is often less than 4/s, and alpha groups preceding the rhythms after closing the eyes are less pronounced than in older children. Subharmonic waves are frequent. In the same manner as in adults a mostly right sided lateralisation can be seen. Genetic factors may be involved in the development of the occipital rhythms, although a simple mendelian transmission could not be confirmed. The EEG phenomenon is correlated with symptoms of psychic and vegetative lability. There is no correlation to epilepsy. The high incidence of anamnestic risk factors suggests that exogenous factors are at least contributing to the development of the rhythms. The continuous occipital 3--4/s-rhythms must be understood as the symptom of a disturbed development of central pacemaker systems. It can lead to persisting abnormalities or only occur transitorily in certain stages of the brain maturation.

Seventy-seven patients suffering from childhood onset absence epilepsy as well as their families were investigated for familial prevalences of epileptic seizures and migraine. Proceeding from the whole sample, epileptic seizures seemed to occur more often in the families of female propositi, though maternal relatives of females and paternal relatives of males were more often affected than the respective opposite groups. - Migraine was more often diagnosed in female family members, which might be due to biased reports. Remarkably though, migraine prevalence was significantly higher in the mothers of female as compared to male propositi. These findings are discussed in context to others supporting a model of polygenic inheritance of epilepsy with sex-related thresholds of manifestation.

The purpose of the follow-up study was to determine whether modern therapy with ethosuximide and/or valproate with/without phenobarbitone and its derivatives improves the longterm prognosis of absence epilepsy as compared to formerly used treatments. The patient population consisted of 194 cases (88 boys, 106 girls) with spike wave epilepsy starting with absences. In each case the diagnosis was confirmed by clinical observation and the typical EEG pattern. Only those patients were included who could be followed beyond the eighteenth year of life (up to age 45). The sample includes also older patients diagnosed during the fifties, before the present standard therapy was available. Because of the heterogeneity of the material and its selection, the data obtained are not suited to make a general statement about the ultimate prognosis of absences. The results demonstrate the effectiveness of regularly applied modern treatment. 72 out of 194 patients (37%) manifested generalized tonic clonic seizures (gtcs) during the course: 20 of these patients showed only incidental generalized tonic clonic seizures, which were not dependent on therapy. In 52 cases gtcs appeared without relation to precipitating factors. None of these patients received regular standard therapy before onset of gtcs. In 31 cases absence statuses were observed. These patients did not have an unfavourable outcome provided the standard therapy was instituted early and consequently. A change from absence epilepsy into an epilepsy with complex partial seizures sensu strictiori could not be observed. At final investigation 42 of 194 patients still had seizures: 7 with absences, 35 with grand mal with or without absences.(ABSTRACT TRUNCATED AT 250 WORDS)

The study deals with 83 patients with absence epilepsy which had started with generalized tonic clonic seizures. Only those patients were included, who could be followed up to an age older than eighteen years. The patient population is heterogeneous; it includes numerous older patients in whom therapy had been instituted at a time when the present standard medication with ethosuximide and valproate was not available. Therefore the data cannot be used as a basis for global statements concerning the prognosis of absence epilepsy with grand mal onset. About 80% of the patients treated with standard therapy became seizure free. An unfavourable course was mainly preceded by incorrect, irregular and quantitatively inadequate therapy. Standard therapy cannot prevent singular generalised tonic clonic seizures in the late course. The social status of adult patients is mainly favourable if they are seizure free. Sporadic attacks usually will not impair social integration. In all, absence epilepsy starting with grand mal responds not as well to therapy and has a more unfavourable social prognosis than epilepsy starting with absences.

The abnormal theta rhythm of the EEG of early childhood was investigated by spectral analysis. The pattern in the power spectrum is characterized by a peak in the thetaband. The relative peak intensity (peak ratio = ratio of peak intensity and average intensity of the spectrum within the frequency range of 0--10 Hz) as well as the right-left coherence proved to be good criteria for the description of the abnormal theta rhythms. When the ratio q greater than or equal to 2.0 and the coherence Coh greater than or equal to 0.7 an abnormal theta rhythm can be considered to be present. When this definition is applied, a high correspondence between the mathematical and visual evaluation of the EEG is present. The abnormal theta rhythm must be regarded as a symptom of a functional anomaly which is -- under electroencephalographic aspects -- characterized by generators acting in abnormal synchronism and monofrequency.

It was the purpose of the study to obtain viewpoints on the genetics of febrile convulsions and their relationship to epilepsy by EEG long term follow up. 89 children with febrile convulsions could be followed up to the age of 11 to 13 years (in total 1046 EEG records). The study was concentrated on genetically determined EEG patterns: bilaterally synchronous spikes and waves, photosensitivity and 4-7 cps rhythms. The statistical evaluation was based on standards derived from known strict age dependence of the different patterns. Theta rhythms were found in 54%, spikes and waves of the resting record in 49% and photosensitivity in 42%. In total, genetically determined EEG patterns were found in 81% of the cases which were sufficiently investigated according to given standards. Spikes and waves are strongly age dependent with a maximum at the age of 5-6 years and appear very inconstantly. Theta rhythms and spikes and waves are closely correlated. Spikes and waves are a heterogeneous phenomenon. The type described here must be interpreted as a facultative symptom of the same functional anomaly which forms the basis of 4-7 cps rhythms. The possible pathophysiological basis of the pattern is discussed.--Photosensitivity is interpreted as the symptom of a genetically independent pathogenetic mechanism, which can lead to additive effects by interaction with other genetic abnormalities as well as exogenous factors.--The pathogenesis of febrile convulsions is multifactorial in the strict sense. While the exogenous pathogenetic factors are rather uniform, the genetic predisposition apparently is not. It is based on different genetic anomalies. Each of them is polygenically determined. In the individual case one or different factors can be involved. The genetic predisposition to febrile convulsions is definitely not only polygenic, but of heterogeneous nature. Finally the genetic relationship between febrile convulsions and epilepsy is discussed.

Electroencephalographical investigations were performed in 203 epileptic children exhibiting focal sharp waves in the EEG and in 312 siblings. As controls served 685 brain-healthy children (Gerken 1971) as well as 252 children with spike wave absences and their 242 siblings (Doose et al. 1973). According to the EEG findings in probands so-called "centrencephalic" EEG-criteria (theta rhythms, spikes and waves, photosensitivity) as a symptom of a genetically determined seizure susceptibility can be expected in at least 60% of the probands. 18% of the siblings showed at least once one definite "centrencephalic" EEG pattern. These results must be regarded as minimal values, since in siblings only one electro-encephalographic study could be performed. The results make it evident, that in the pathogenesis of epilepsy with focal sharp waves a genetically determined seizure susceptibility plays a very important role. After comparison with the results of genetic investigations in patients with spike wave absences (Doose et al. 1973) the difference as for the genetic basis between "centrencephalic" and focal epilepsies apparently is only due to a different gene density.

203 epileptic children (127 boys, 76 girls), who had demonstrated at least once focal sharp waves in the EEG during the course were investigated regarding clinical and historical data as well as familial morbidity for seizures. Expectedly, the seizure symptomatology was multiform: focal seizures of different type, especially secondarily generalized, grand mal, psychomotor fits, infantile spasms etc. Organic brain lesions play an important role. In 23% of cases a familial seizure affliction can be registered. The morbidity (close family) is significantly lower than in families of patients with spike wave absences (2.5 and 4.4% resp., Doose et al. 1973). Like in spike wave absence epilepsies mothers and mothers' siblings are more often affected than fathers and fathers' siblings. Among the affected relatives grand mal epilepsies predominate. The increase of febrile convulsions and spike wave absences observed in the families of absence epileptics is not present. In probands with onset of epilepsy during early childhood a significantly increased familial affliction can be observed. A more extensive discussion of the results will follow in a second paper deeling with EEG findings in probands and siblings.

The EEG of 38 patients suffering from primary generalized myoclonic astatic epilepsy since early childhood is studied in late stages of the disease. Spectral analysis shows that parietal 4-7 cps rhythms (theta rhythms) which are typical of the EEG in the early stages of the disorder can still exist in the EEG of the adult. The rhythms seem to be related to the course of the epilepsy. In the EEG of patients who still have seizures rhythms occur more often than in the EEG of patients who are free of seizures in the two years before the reexamination of their EEG. The functional anomaly producing a 4-7 cps rhythmization of the parietal EEG seems to be one pathogenetic factor in some epileptic disorders of early childhood, especially in primary generalized myoclonic-astatic epilepsy.

We report a 10 year old girl with psychomotor retardation, myoclonic syndrome and extreme photosensitivity. Clinical symptomatology and EEG-findings were not compatible with any of the known myoclonic syndromes. The patient's remarkable phenotype with short stature, dystrophy, facial dysmorphia characterized by antimongoloid palpebral fissures, broad root of the nose, coarse nose, inner epicanthic folds, dysplasia of the external ears, higharched palate, syndactylism between 2nd and 3rd toes on both sides, small narrow hands is suggested of a chromosomal disorder. A ring-shaped chromosome of the G-group (21--22) could be found. After using the Giemsa- and C-banding technique this chromosome could be identified as number 21. Patients with ring chromosome 21 or 22 are phenotypically not distinguishable. This is due to duplication-deficiency-variability of ring chromosomes in growing somatic tissues. The cellular genotype of ring chromosomes varies between monosomy, trisomy and polysomie.

Based on EEG examinations of 524 siblings of mainly epileptic probands and 685 brain-healthy control children the genetics of spikes and waves (SW) in the resting and hyperventilation EEG are investigated. The age distribution of positive findings in the siblings of SW-carriers shows a clearly bimodal character with peaks of 12—13% in the 3—6 year age range and 9.7% in the 15-year-old siblings, and, on the other hand, a minimum of 1.4% in the 9-10-year age range. In siblings of patients with SW series, the SW are slightly more frequent than in siblings of patients with irregular SW. Positive findings are seen somewhat more frequently in the female siblings than in male ones and also slightly more frequently in the families of female probands than in the families of maleones. The findings in siblings of SW-carriers and controls show a definite difference. According to our results, SW arising during p hotic stimulation and SW in the resting and hyperventilation EEG are — under genetic aspects — of a different nature. Among the siblings of patients with SW and additional occipital delta rhythms, SW occur less frequently than in siblings of SW-carriers without occipital delta rhythms. As a whole, our results indicate that genetic factors are of decisive importance for the development of SW in the resting and hyperventilation EEG. The pattern, however, is — under genetic aspects — obviously not of a homogeneous nature. The SW are rather an expression of an increased cerebral excitability which may be activated or inhibited by other genetically determined factors. An Hand von elektroenzephalographischen Untersuchungen von 524 Geschwistern von uberwiegend epileptischen Probanden und 685 hirngesunden Kontrollkindern werden die genetischen Grundlagen der spikes and waves (SW) im Ruhe- und Hyperventilations-EEG untersucht. Die Verteilung positiver Befunde bei den Geschwistern von Merkmalstragern zeigt einen deutlich bimodalen Charakter mit Maxima von 12 bis 13% bei den 3- bis 6jahrigen und 9,7% bei den 15jahrigen Geschwistern und andererseits einem Tiefpunkt von 1,4% bei den 9-bis 10jahrigen Kindern. Bei Geschwistern von Patienten mit SW-Serien sind SW geringgradig haufiger als bei Geschwistern von Patienten mit irregularen SW. Positive Befunde werden bei weiblichen Geschwistern etwas hiufiger gefunden als bei mannlichen und auserdem in den Familien weiblicher Probanden vermehrt gegenuber den Familien von mannlichen. Die Befunde bei Geschwistern von Merkmalstragern und Kontrollen zeigen eine eindeutige Differenz. — Nach den Ergebnissen sind SW bei Photostimulation und SW im Ruheund Hyperventilations-EEG unter genetischen Aspekten unterschiedlicher Natur. — In den Geschwisterschaften von Patienten mit SW und occipitalen Delta-Rhythmen treten SW seltener auf als bei Geschwistern von Merkmalstragern ohne occipitale Delta-Rhythmen. — Insgesamt sind nach den Ergebnissen fur die Entstehung von SW im Ruhe- und Hyperventilations-EEG genetische Faktoren von ausschlaggebender Bedeutung. Das Merkmal ist unter genetischen Aspekten aber offenbar nicht einheitlicher Natur. Die spikes and waves sind vielmehr Ausdruck einer zerebralen Erregbarkeitssteigerung, die von weiteren Faktoren gefordert oder inhibiert werden kann. See also On the Genetics of EEG-Anomalies in Childhood(1) – I in the journal Neuropadiatrie, issue 4 1972. See also On the Genetics of EEG-Anomalies in Childhood(1) – II in the journal Neuropadiatrie, issue 4 1972. See also On the Genetics of EEG-Anomalies in Childhood(1) – IV in the journal Neuropadiatrie, issue 2 1973.

Die Verfasser berichten über ein System für die maschinelle Dokumentation von EEG- und klinischen Befunden bei Langzeitbeobachtungen von Epileptikern. Auf drei verschiedenen, durch spaltengleiche Verlochung von Kennzahlen aufeinander abgestimmten Karten (IBM, 80 Spalten) werden Vorgeschichte und Befunde, Verlaufsbeobachtungen (jahrweise zusammengefaßt) und EEG-Befunde verlocht. Außer durch maschinelle Sortierung können Verlaufsbeobachtungen durch Tabellen ausgewertet werden: Maschinelle Sortierung des Kartenmaterials nach der zeitlichen Folge der Befunderhebung und anschließende Tabellierung. Bei der Bearbeitung von speziellen Fragestellungen kann das System durch weitere Karten ergänzt bzw. durch maschinelle Zusammenziehung von bestimmten Sachverhalten auf einer neuen Karte modifiziert werden.