[MCTD in the differential diagnosis of cerebellar ataxia]. / Zentralnervöse Manifestation des Sharp-Syndroms als Ursache einer zerebellären Ataxie mit Gewichtsverlust.

Mixed connective tissue disease is a rare disorder in childhood and seldom affects the CNS. The detection of U1-n-RNP antibodies in blood and CSF as well as speckled immunofluorescence pattern are diagnostic.

[Change in technical aids (AT)--a technology assessment from the viewpoint of rehabilitation-anthropology]. / Zum Wandel technischer Hilfen (AT)--Eine Technikfolgenabschätzung aus rehabilitativ-anthropologischer Sicht.

Practical experience in adjusting complex computer-assisted (CAS) communication aids has resulted in a search for prognostic criteria useful in evaluating the efficacy of technical aids. Such evaluation implies a holistic approach as is included in the ICIDH-2. These circumstances are demonstrated by examples ranging from mechanical to computer-assisted (CAS) aids. "Reciprocity" has turned out to be a valid semi-qualitative criterion in describing the dynamic equilibration of the rehabilitative issues involved. Only a dialogical situation with reciprocity will lead to sustainable participation. In case of technical aids, a conjunction of abilities and the qualitative level of activities in disabled people have to be taken into account to provide all dimensions of participation. In this holistic approach, social participation and balance will equally be respected. The differentiation of social systems with unequal consequences for people with disabilities in terms of environmental factors, or e-code of the ICIDH-2, have to be considered for prognostic evaluation with regard to efficacy and possible participation. A comprehensive psycho-socio-functional rating therefore has to include a comparative (socio-structural or morphological) analysis of the environment at hand. This approach will invariably show that technical aids alone are unable to ensure individual independence but, rather, may lead to isolation if there is no regional or local networking based on partnership and close interpersonal relations to be drawn on "technically".

[Effects of significantly increased perinatal risks on developmental status in adolescence]. / Auswirkungen deutlich erhöhter Geburtsrisiken auf den Entwicklungsstand im Jugendalter.

In a 13-years-catamnesis a sample of 50 children with severe perinatal risks was assessed with regard to their physical, cognitive and behavioral development; selective drop-outs were analysed. In accordance with the results of other prospective studies there are deficits in visual-motor functioning, higher rates of somatic complaints, social withdrawal and attention deficits; a large number of these children attend special schools. The study presents predicative relations between risk factors of birth-time and the developmental status at youth. In comparison with typical single risks (e.g. gestational age or respiratory distress syndrome) a complex index for the perinatal risk, the so-called birth-optimality offers no substantial advantage. A significant influence of social factors is shown for school achievement. Children of fathers with higher educational level are attending schools of a higher grade. The combination of biological and social factors improves the reliability of developmental prognosis; the Mental Developmental Index of the Bayley Scales of Infant Development provides additional prognostic accuracy. For compensating developmental disadvantages especially parents with lower educational level should be informed about beneficial care. Even children of these families, who scored low in early cognitive assessments should receive early intervention or therapeutic support.

CNS late effects after ALL therapy in childhood. Part II: Conventional EEG recordings in asymptomatic long-term survivors of childhood ALL--an evaluation of the interferences between neurophysiology, neurology, psychology, and CNS morphology. German Late Effects Working Group.

Monitoring of therapy-related late effects after acute lymphoblastic leukemia (ALL) therapy in childhood has become an increasingly important area in posttherapeutic patient surveillance. The usefulness of conventional electro-encephalographic (EEG) investigations as part of these attempts is controversially discussed. However, EEG recordings have become a popular approach for judgement on the functional integrity of the central nervous system in this subject group. The present report focuses on this problem and discusses the question whether and to what extent conventional EEG recordings were correlated with further measures of central nervous system (CNS) integrity and therapeutic differences. EEGs were recorded in 110 subjects, asymptomatic long-term survivors of ALL in childhood, during a large retrospective multicenter study evaluating CNS late sequelae following antileukemic therapy in Germany and Austria. EEG findings were correlated with demographic data, illness- and treatment-related parameters, as well as with data on the morphological, neurological and psychological status of the participating subjects. At the time of follow-up the EEG was abnormal in 47 cases (42.7%). The most frequent EEG abnormalities observed were disturbances of the background activity (n = 45, 95.8%), followed by hypersynchrone activities (n = 1.0, 21.3%) and interhemispheric differences/focal slowing (n = 6, 12.8%). With exception of age at diagnosis, none of the observed EEG abnormalities showed a correlation with any of the aforementioned illness- or treatment-related parameters. Eighty percent of the observed EEG abnormalities were found in children younger than 5 years at diagnosis. Children less than 2 years of age as well as those above 5 years at onset of disease showed a significantly reduced prevalence of EEG disturbances compared to subjects between 2 and 5 years at diagnosis. Neither the degree of illness nor therapy-specific differences showed any relationship to EEG outcome. There was no specific EEG finding for a specific morphological substrate, neurological or psychological deficiency and vice versa. Overall, there was no beneficial effect of routine EEG testing in children following therapy for ALL. According to our data, the evaluation of conventional EEG recordings of otherwise asymptomatic ALL long-term survivors is not a very helpful measure for predicting the degree of behavioral deficiencies, neurological disturbances, or morphological CNS abnormalities, which may be present or will develop in this special subject group.

Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia.

Ataxia with spastic diplegia was seen in seven males of a Turkish family, obviously transmitted as an X-linked recessive trait. The first clinical sign in infancy was nystagmus; ataxia and pyramidal signs were noted at age 2-3 years. Patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the 3rd or 4th decade from infectious diseases. The syndrome resembles X-linked spinocerebellar ataxia and X-linked spastic paraplegia in some aspects but is different if compared with previously published reports. Laboratory and neurophysiological studies showed no abnormalities. Various aspects of X-linked ataxia are discussed: genetic heterogeneity is apparent from observations reported.

[Analysis of gait using motography in healthy children and patients with neurologic disorders. I: Qualitative analysis]. / Ganganalyse mit Hilfe der Motografie bei gesunden Kindern und bei Patienten mit neurologischen Störungen. Teil I: Qualitative Analyse.

Light pattern recording of movements is applicable to assess changes in space and time as well by using single photographic pictures. The method called Motografie has the advantage to work with a special light source; therefore, it is useful in clinical practice and research. Data can be analysed by describing pictures (qualitative analysis) as well as by quantitative measurements from the light pattern curves. By using Motografie gait pictures were studied in two healthy children, in a boy with minimal cerebral dysfunction and hyperactivity, and in two patients suffering from spastic diplegia. Movement curves from different parts of the body (shoulders, hands, hips, knees, feet) could be described in regard to their pattern and quality. In comparing healthy, mildly impaired and severely handicapped children specific features were noted to characterize different gait patterns. This is useful in clinical diagnosis and practicable to assess developmental changes as well as results of therapeutic measures in movement disorders.

[Analysis of gait using motography in healthy children and patients with neurologic disorders. II: Quantitative analysis]. / Ganganalyse mit Hilfe der Motografie bei gesunden Kindern und bei Patienten mit neurologischen Störungen. Teil II: Quantitative Analyse.

Light pattern recording of movements by Motografie results in data representing changes in space and time; single pictures of these curves can be analysed in detail. The method was used for gait analysis in two healthy children, in a boy with minimal cerebral dysfunction and hyperactivity, and in two patients with spastic diplegia. From describing all phases of gait cycles different variables were chosen to assess movement patterns quantitatively; thus, curves could be described by various parameters. Differences were seen between normal, mildly impaired and severely handicapped children. Results obtained are in good agreement with a qualitative analysis of pictures and with data from the literature using different methods.

[Analysis of diadochokinetic movement. Electronic data processing-aided diadochometry--a contribution to developmental neurologic diagnosis]. / Analyse der diadochokinetischen Bewegung. EDV-gestützte Diadochometrie--Ein Beitrag zur entwicklungsneurologischen Diagnostik.

A method of objective registration and analysis of diadochokinetic arm movement was tested in normal children and those with signs of minimal cerebral dysfunction (MCD). 44 children aged 4-10 yrs. (9 with the diagnosis of MCD, 31 controls) were investigated. By means of a special device 270 deg. twisting of the forearms were transduced linearly by foam-cushioned clamps at the wrists and a potentiometer into a direct current of 0-2,7 V, respectively. The analog DC signal was digitalized by 0.7 kHz and stored in a calculator, the identification of the first and last sectors were performed on monitor. After removing artificial currents by a special filtering program, the remaining sinus-like curves could be analyzed by a special program (BEWESI). Mathematical analysis was performed by 11 factors respecting right and left arm, unilateral or bilateral twisting. Statistical analysis showed significant differences in some parameters between normal and MCD-children. In addition, a significant difference between the velocity of pronation and supination was evident. The fact that a clear age relation of parameters was found, proves the practicability of this diagnostical method in developmental neurology.

[Degenerative diseases of the extrapyramidal and spinocerebellar system--differential diagnostic references]. / Degenerative Erkrankungen des extrapyramidalen und des spinozerebellären Systems--Differentialdiagnostische Hinweise.

Degenerative disorders of the extrapyramidal and spinocerebellar system often have a genetic cause; however, pathogenesis usually is still unknown. Disturbance of neurotransmitter metabolism in Parkinson disease or in some dystonic syndromes offers new therapeutic approaches; in choreatic or athetoid syndromes biochemical factors are only known in some parts. Clinical and neurophysiological differentiation of various dyskinetic disorders is essential to reach better understanding. In children early signs and symptoms are seen which may be caused by different factors and are difficult to diagnose. Similar problems are to be seen in hereditary ataxias which sometimes begin in childhood: Clinical findings are essential to plan for additional investigations.

[Abnormalities of the central nervous system in the area of the posterior cranial fossa--neuroradiologic and clinical aspects]. / Fehlbildungen des Zentralnervensystems im Bereich der hinteren Schädelgrube--neuroradiologische und klinische Aspekte.

Since the introduction of CT, the assessment of ventricular enlargement and follow-up examinations after shunt surgery have become easier. By means of CT coronary and sagittal reconstructions as well as nuclearmagnetic resonance, the pathologic-anatomic changes in malformations with Arnold-Chiari II deformity and Dandy-Walker syndrome are clearly demonstrated. With nuclear magnetic resonance the morphology of structures in the posterior cranial fossa are demonstrated three-dimensionally, and in comparison with CT the method has the advantage that it involves no exposure to radiation. On the other hand, dynamic conditions of the CSF circulation can be evaluated better on the computerized tomogram following intrathecal injection of contrast medium. On the basis of our experience we believe that the different methods are complementary and can often be combined when planning surgery.

Congenital intracranial neoplasms.

The clinical and histological findings are described in 12 infants (5 boys, 7 girls) suffering from congenital intracranial tumors. An enlarged head or signs of increased intracranial pressure were present at birth or within the first 12 months of life (average 5.1 months). The histological picture of the tumors (6 supratentorial, 6 infratentorial) varied. In 6 children a ventriculoperitoneal shunt was necessary; partial or total removal of the tumor was attempted in 5 infants; 4 patients received irradiation. Prognosis was poor, and survival time averaged 13 months. A short review of the literature is given; new diagnostic techniques (computed tomography, magnetic resonance imaging) allow earlier diagnosis. However, because of the size and location, successful treatment is rarely possible.

[Huntington chorea in childhood]. / Die Chorea Huntington im Kindesalter.

By the case report of a 7 years old girl problems and difficulties in diagnosing early manifested Chorea Huntington are discussed. Dementia, rigor and akinesis are the presenting signs; choreatic movements are usually not present. Seizures occur frequently. Family history gives important informations; the autosomal dominant gene mostly is transmitted by the father. Although knowledges of biochemical changes in movement disorders are increasing, there are presently only a few possibilities to ameliorate signs and symptoms of chorea by pharmacological measures.

[Inpatient, day clinic and ambulatory care of chronically ill children--neuropediatric viewpoints]. / Stationäre, tagesklinische und ambulante Betreuung chronisch kranker Kinder--Neuropädiatrische Gesichtspunkte.

In treating children suffering from diseases of the central or peripheral nervous system ambulatory and day-clinical care becomes more and more important. The usually complex problems of rehabilitation and integration are dealt effectively in this way. Secondary effects of handicapping conditions can often be prevented.