Autosomal dominant recurrent encephalopathy of childhood.

Recurrent encephalopathy affecting cerebellar and extrapyramidal structures was observed in five members of two families. The syndrome is characterized by sudden onset of truncal ataxia, occasionally accompanied by lethargy and impairment of speech. Choreic and athetoid movements were present, and there was loss of deep tendon reflexes with presence of pathological reflexes. Onset of the disease was early in childhood. Attacks lasted for days to weeks; residual symptoms comprising speech impairment and incoordination were seen in some patients. Both sexes were affected. The pedigrees suggest autosomal dominant inheritance. Pathogenesis remains unexplained by the laboratory studies done; metabolic or immunological processes predisposed by genetic factors are suggested. Similar reports from the literature are discussed; no identical family could be found.

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.

"ADAM complex" (amniotic deformity, adhesions, mutilations)--a pattern of craniofacial and limb defects.

We report eight patients with the craniofacial defects and limb anomalies of the (amniotic deformity, adhesions, mutilations) ADAM complex. Facial abnormalities comprise clefts and distortion and dislocation of craniofacial structures; limbs show various combinations of amputation, secondary syndactyly, and constriction. From previous reports and our cases it is obvious that the clinical picture of the ADAM complex varies enormously; a less severe type combines cleft lip and palate with amputations or amniotic bands. Clinical and experimental data suggest that these malformations are of symptomatic (exogenous) origin. Nosologic differentiation from other conditions phenotypically similar but of genetic etiology is important for genetic counseling. Observation of the ADAM complex in two members of a family suggests that genetic factors might operate in some cases.

[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.

[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.

[Long-term treatment with anticonvulsants in childhood. Guidelines for the practice]. / Langzeitbehandlung mit Antikonvulsiva im Kindesalter. Hinweise für die Praxis.

Long-term treatment with antiepileptic drugs is based on a differentiated diagnosis. Medication appropriate for a special type of seizures has to be chosen. Treatment must be controlled carefully to avoid side effects. Total blood count, urinalysis and determination of enzymes (alkaline phosphatase etc.) are necessary in regular intervals. Essential in treatment is the psychological guidance of the patient and his parents to handle various problems which arise during development. The treatment is terminated carefully after years when the seizures are controlled and the EEG has been normalized.

Methods of assessing and recording motor skills and movement patterns.

The literature in different fields of assessment and recording motor skills and movement patterns in children is reviewed and various methods of movement analysis are discussed from a clinical and instrumental point of view. Their advantages and disadvantages in the study of motor development and in neuropaediatric diagnosis and research are considered. The methods chosen for a special purpose, whether a motoscopic, motometric or motographic technique, depend on what the investigator wants to study and on the available facilities, and is also influenced by the degree of co-operation of the patient. Whatever technique is used, the results obtained must enable comparisons to be made with later assessments as that valid statements about the child's progress become possible.

[The value of motor tests in neuro-developmental diagnosis]. / Zur Bedeutung motorischer Tests für die entwicklungsneurologische Diagnostik

Recording and judgment of (psycho) motor behavior are important tools in developmental and neuropediatric diagnosis: During infancy and early childhood the developmental course of various motor functions has to be registered, and the alterations of spontaneous or provoked movements have to be assessed by neuropediatric evaluation. Present knowledge of underlying neurophysiological mechanisms is scarce; therefore, in the stage of collecting data, it is essential to gather information about motor phenomena by a valid and comprehensive assessment of motor skills and movement patterns together with the modifying and influencing variables. Motoscopic methods are useful in recording motor skills and movement patterns; however, they are influenced by subjective errors depending on the examiner's training and experience. Motometric tests yield information about the coordinative functions and gross motor skills (e.g. body coordination test; KTK) or about manual dexterity and fine motor functions (e.g. the "insertion test"; Gleiss). For an objective recording of motor performance and particularly for assessment of the course of movements in performing motor tasks motographic methods are necessary (e.g. diadochometry). Problems and possibilities of these (psycho) motor tests are discussed briefly. Development and application of motodiagnostic methods are still in an early stage so that conclusions about underlying neurophysiological mechanisms have to be drawn very carefully, e.g. in the diagnosis of so-called cerebral dysfunction.