Biomedical subjects

L Thun-Hohenstein

Publications and source records attributed to L Thun-Hohenstein.

At least 19 recordsLinked to original sources

PubMed2006

Interdisciplinary child protection team work in a hospital setting.

INTRODUCTION: A retrospective study consisting of a data analysis of the Salzburg Child Protection Team (CPT) documentation and medical documentation was carried out. The objective was to investigate the frequency and distribution of maltreatment diagnoses and the spectrum of clinical symptoms of children reported to the interdisciplinary Salzburg CPT between 1996 and 2001. RESULTS AND DISCUSSION: The documentation covered a total of 286 children and adolescents (117 boys, 169 girls; mean age: 6.9+/-4.9 years) that the CPT suspected of being maltreated. The annual mean frequency of children reported to the CPT was 0.72% of all inpatients, with maltreatment being confirmed in 0.44% of the cases (61.2% of the children reported). The maltreatment could be classified into physical (26.9%), sexual (14.0%), neglect (17.5%) and Munchhausen's syndrome by proxy (2.4%). In 17.5% of the suspected cases the suspicion of maltreatment was subsequently judged to be incorrect, while in 21.7% of the cases, doubt remained. In 43% of all cases the suspected perpetrators were one or both parents, and in 8.3% the perpetrator was a person from outside the family. The police were informed in 20.3% of the cases, and the Youth Welfare Department was informed in 62.6% of the cases. In conclusion, the frequency of maltreatment diagnoses is lower than expected. CONCLUSION: Although the work of CPT can be considered to be effective and useful, better diagnostic selectivity and specificity and a long-term follow-up are required.

Austria↗

PubMed2001

Intrauterine blood flow and long-term intellectual, neurologic, and social development.

OBJECTIVE: To study the long-term effects of severely abnormal (absent or reversed diastolic) blood flow in the umbilical artery associated with fetal growth restriction on postnatal intellectual, neurologic, and social development. METHODS: Absence or reversal of diastolic blood flow in the umbilical artery was found in 38 consecutive growth-restricted fetuses as determined by biometry and Doppler ultrasound between 1988 and 1992. The 23 infants surviving the prenatal and perinatal period who could be tested were compared at school age with a group of children born at the same gestational age after normal intrauterine growth. They were tested for intellectual, neurologic, and social development by a test battery including the Kaufmann Assessment Battery for Children, Man-Drawing Test, Child Behavior Checklist, Zürich Neuromotor Test, and neuropediatric testing. RESULTS: Intellectual development was significantly better in the control group compared with the study group. In addition, Zürich Neuromotor testing and neuropediatric testing showed significantly better development of control children compared with the study group in 20% of the items tested. There was no detectable difference in social development as measured by the Child Behavior Checklist. CONCLUSION: Severely reduced blood flow to the fetus associated with growth restriction was followed by long-term impairment of intellectual development and partial neurodevelopmental delay.

Adult↗

PubMed1995

Response of untreated stage IV Wilms' tumor to single dose carboplatin assessed by "up front" window therapy.

A total of nine children with previously untreated stage IV Wilms' tumor of favorable histology were treated according to the Austrian/Hungarian Wilms' Tumor Protocol 89 and received a preoperative single dose of carboplatin as an "up front" window therapy. The treatment consisted of carboplatin as a single-dose of 600 mg/m2 over 30 minutes on day 1. Response evaluation by chest X-ray, serial CT scans, and sonography was performed on day 22. Investigation of the abdominal tumors revealed seven partial responses (78%), one nonresponse, and one progressive disease with a median tumor volume reduction of 62%. Response of metastases evaluated by CT scans was as follows: four complete remission, four partial response, and one nonresponse. Thrombocytopenia (WHO grade III 1, grade II 2, grade I 2) and leukocytopenia (WHO grade II 1, grade I 5) were the main side effects. No renal or liver toxicity were observed. The overall response rate after a preoperative single-dose of 600 mg/m2 carboplatin in untreated patients with stage IV Wilms' tumor is encouraging and the toxicity acceptable. This data indicate that carboplatin seems to be an additional effective drug in patients with previously untreated Wilms' tumor of favorable histology.

Austria↗

PubMed1994

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age-dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11-q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with sporadic AS diagnosed in Switzerland, we found 2 unrelated females with paternal isodisomy for the entire chromosome 15. Their phenotypes were milder than usually seen in this syndrome: one girl did not show the typical AS facial changes; both patients had late-onset mild seizures; as they grew older, they had largely undisturbed gross motor functions, in particular no severe ataxia. Both girls were born to older fathers (45 and 43 years old, respectively). The apparent association of a relatively milder phenotype in AS with paternal uniparental disomy will have to be confirmed by detailed clinical descriptions of further patients.

Adult↗

PubMed1994

Transient bifrontal solitary periventricular cysts in term neonates.

We describe three children born at term investigated for neonatal seizures or transient apnoea. Cranial ultrasound and MRI unexpectedly revealed symmetrical periventricular cysts adjacent to the anterior horns. We found no evidence of prenatal viral infection, intraventricular or subependymal haemorrhage or hypoxic-ischaemic lesions. The lesions were not seen on MRI at 3 months of age, but there was no compensatory dilatation of the anterior horns nor secondary loss of white matter. The appearance and location of these transient cysts were different from those of the cystic changes which typically follow germinal matrix haemorrhage or periventricular leukomalacia. Their pathogenesis and clinical significance remain to be determined.

Brain Diseases↗

PubMed1994

Seizures induced by physical exercise: report of two cases.

Two children with seizures induced by physical exercise are described. Epilepsy was present from early childhood (age: 4 and 5 months), but the precipitating effect of exercise became evident only later (age: 20 months and 3.5 years). Several treatment regimes were tried, but no satisfactory seizure control could be achieved. In both children no etiological factor was known. MRI, CT and repeated interictal waking and sleeping EEG recordings were normal. Hyperventilation and photostimulation had no effect on the EEG. Physical exercise (e.g., playing football) induced clinical seizures and generalized epileptiform EEG abnormalities as recorded by ambulatory cassette EEG (Oxford). Cardiac arrhythmias were excluded by concomitant EEG recording. Extensive metabolic and endocrinologic investigations during and after seizure induction gave normal results. Thus, the pathophysiologic mechanism for exercise-induced seizures remained unclear.

Electroencephalography↗

PubMed1994

Somatosensory evoked potentials with high cortical amplitudes: clinical data in 31 children.

Between 1989 and 1993, somatosensory evoked potentials (SEP) were recorded as part of the diagnostic work-up in 282 children with different neurologic disorders. In thirty-one children with N20/P25/N35 amplitudes were enhanced compared to our control group (highest amplitude 14.1 microV). Four children had amplitudes > 40 microV ("giant"), fifteen between 20-39.9 microV ("elevated") and twelve between 14-19.9 microV ("borderline"). Enhanced cortical SEPs were seen in all patients with neuronal ceroid lipofuscinosis (5 late-infantile NCL > 20 microV, 1 juvenile NCL 14.7 microV). In addition, five of six NCL children showed bilaterally prolonged cervico-cortical conduction times, otherwise only seen in a 4-month-old child following hypoxia. "Borderline" and "elevated" SEPs occurred in patients with heterogeneous neurologic disorders. Follow-up recordings showed inconsistent results: seven children had amplitudes > 14 microV in all recordings, six only at the first examination, and six only at follow-up. In six children with hemiparesis enhanced SEPs were recorded over both (n = 2) or only over the unaffected hemisphere (n = 4). Myoclonic seizures were observed only in five children with NCL. Similar to other SEP parameters, enhanced amplitudes are an unspecific indicator of an ongoing neurologic disorder. However, in neuronal ceroid lipofuscinosis, enhanced SEP amplitudes may be a useful diagnostic criterium.

Adolescent↗

PubMed1994

Prognostic value of early MR imaging in term infants with severe perinatal asphyxia.

The prognostic significance of magnetic resonance imaging (MRI) in the neonatal period was studied prospectively in 43 term infants with perinatal asphyxia. MRI was performed between 1 and 14 days after birth with a high field system (2.35 Tesla). Neurodevelopmental outcome was assessed by a standardized neurological examination and the Griffiths developmental test at a mean age of 18.9 months. The predictive value of the various MRI patterns was as follows: Severe diffuse brain injury (pattern AII+III; n = 7) and lesions of thalamus and basal ganglia (pattern C; n = 5) were strongly associated with poor outcome and greatly reduced head growth. Mild diffuse brain injury (pattern AI; n = 7), parasagittal lesions (B; n = 7), periventricular hyperintensity (D; n = 2), focal brain necrosis and hemorrhage (E; n = 3) and periventricular hypointense stripes (on T2-weighted images; F; n = 3) led in one third of the infants to minor neurological disturbances and mild developmental delay. Infants with normal MRI findings (G; n = 9) developed normally with the exception of one infant who was mildly delayed at 18 months. The results indicate that MRI examination during the first two weeks of life is of prognostic significance in term infants suffering from perinatal asphyxia. Severe hypoxic-ischemic brain lesions were associated highly significantly with poor neuro-developmental outcome, whereas infants with inconspicuous MRI developed normally.

Asphyxia Neonatorum↗

PubMed1993

Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptor.

A 10-week-old girl with nonketotic hyperglycinemia was treated with increasing amounts of dextromethorphan, an NMDA receptor antagonist. She improved neurologically; at 35 mg/kg/d, seizures ceased and EEG normalized. Dextromethorphan withdrawal resulted in a dramatic clinical deterioration coinciding with epileptic and high-voltage slow activity in the EEG. After reintroduction of dextromethorphan (35 mg/kg/d), recovery occurred within 24 hours.

Amino Acid Metabolism, Inborn Errors↗

PubMed1993

[Measuring vibration sense in childhood. Normal values and initial experiences in polyneuropathies].

BACKGROUND: We have attempted to obtain normal values for vibration thresholds in children and to evaluate their application in polyneuropathies. METHODS: Vibration thresholds determinations were made by means of a handheld vibrameter (Fa Somedic AB Sweden): Within a constant frequency (100 Hz) and a calibrated pressure (450 g) the amplitude ranged variably from 0.01 to 399 microns. Measurements were made at three sites (carpal, tibial and tarsal). Vibration threshold (VT) was determined by the average of Vibration Perception Threshold (VPT) and Vibration Disappearance Threshold (VDT). RESULTS: Reference values obtained from 106 children and adolescents (control group), 5.5 to 19 years of age, correlated with age but not with sex. The amplitude of VT-values ranged from 0.4 microns (carpal at 6 years), to 1.10 microns (tarsal at 18 years). Patients with Friedreich's ataxia (n = 7) or hereditary motosensory neuropathy (n = 11) showed strongly increased thresholds at all sites up to a factor of 100. CONCLUSIONS: The examination by means of a vibrameter took at least 10 min, the shorter examination by tuning fork however showed to be less sensitive and rather inexact. An examination with a vibrameter is, as rule, reliably possible in children older than 5 years.

Adolescent↗

PubMed1992

Cortical visual impairment following bacterial meningitis: magnetic resonance imaging and visual evoked potentials findings in two cases.

Cortical visual impairment (CVI) following bacterial meningitis is a very uncommon complication. Two children with CVI following bacterial meningitis are reported. Bacterial agents were Haemophilus influenzae type B in one and meningococci in the other child. Both children showed only insufficient recovery from CVI, mental retardation and residual neurological symptoms. Flash visual evoked potentials (VEP) showed preserved cortical response at onset of CVI. Re-evaluations several months later showed significantly reduced amplitudes, but normal latencies for P100. Thus, flash VEP does not allow prediction of visual outcome. MRI results have not been reported before. MRI at onset of diagnosis showed occipital parenchymal irregularities with enlarged sulci and subarachnoid spaces. Follow up MRI 15 months after onset of CVI in one patient showed marked atrophy of the occipital cortex, hyperintensities of the cortical white matter and no visible optic radiation. The MRI findings indicate hypoxic-ischaemic lesions in the border zone between the distribution of the great cerebral arteries.

Blindness↗

PubMed1992

[Diagnostic imaging of the brain of blind and visually handicapped young children].

In infants with delayed or absent visual maturation a neuroradiological investigation of the brain is commonly performed in addition to neurophysiological examinations. We report our preliminary experience with magnetic resonance imaging (MRI). MRI allows a detailed anatomical assessment and an evaluation of the myelination, including the optic radiation. Following severe perinatal hypoxic-ischemic injury periventricular leukomalacia in the parieto-occipital region was a common finding. The findings in infants with or without ocular abnormalities were heterogeneous, including normal findings, nonspecific delays of cerebral myelination as well as several malformations (such as corpus callosum hypoplasia, Aicardi syndrome, septo-optic dysplasia, migration disorders). In the individual case the neuroradiological findings do not allow to draw conclusions to the visual function and prognosis. In children with Leber congenital retinal amaurosis we have observed a normal myelination of the optic radiation. In many cases, particularly if a syndromic diagnosis is reached, neuro-imaging gives useful information for prognostic and genetic counselling.

Blindness↗

PubMed1992

[Congenital oculomotor apraxia. Presentation--developmental problems--differential diagnosis].

Congenital oculomotor apraxia (COMA) was initially defined by Cogan in 1952. In this condition voluntary horizontal saccades cannot be generated, while slow horizontal pursuit movements and vertical eye movements are intact. Affected infants usually present with delayed visual and/or psychomotor development or may even appear to be blind. In the second half of the first year "compensatory" head thrust movements become apparent. While the oculomotor abnormalities tend to improve with increasing age most affected children have delayed motor and speech development. The cognitive development is commonly impaired and many children require a special scholastic education. In our personal series of 9 children we have found variable and nonspecific neuroradiological findings, including cerebellar hypoplasia, hypoplasia of corpus callosum and grey matter heterotopias. COMA has to be differentiated from acquired forms of ocular apraxia as seen in Morbus Gaucher type 3, ataxia teleangiectasia and Morbus Leigh.

Adolescent↗

PubMed1992

[Visual milestones and child development].

Frequently, the milestones of visual development are the only available parameter of visual functions in newborns and small infants. The subscale eye-hand-coordination of Griffith's Developmental Test and some single items of visuo-motor functions were assessed concerning their first occurrence in healthy AGA term and preterm infants. Term and preterm infants differed constantly, but not significantly, in favour of the term children. No sex differences could be documented. Neurologic optimality score showed significant correlations with development of visual milestones. The Griffiths subscore at 9 and 24 months showed good correlations with later cognitive functions.

Child Development↗

PubMed1992

Growth after radiotherapy and chemotherapy in children with leukemia or lymphoma.

The effect of radio- and chemotherapy on auxological parameters was investigated in 30 children treated for acute lymphatic leukemia (ALL) or non-Hodgkins lymphoma (NHL). Growth velocity was decreased during the first year of treatment. Catch-up growth was insufficient during the following years. Thus, the whole group experienced a loss of height of 0.49 +/- 1.1 SD at 6.8 +/- 2.6 years after diagnosis. Height and growth velocity were not different between children who received 18 or 24 Gy cranial irradiation; however, growth velocity was significantly lower in children who were treated for more than 2 years or who had the more intensive chemotherapeutic protocol. Evaluation of the growth hormone (GH) response to pharmacological stimulation revealed reduced GH peaks in 47% of the patients, but there was no correlation of GH peak with growth or treatment parameters. In conclusion, the impairment of growth in children after treatment for ALL or NHL might be related to the intensity and duration of chemotherapy.

Analysis of Variance↗

PubMed1991

Early fine motor and adaptive development in high-risk appropriate for gestational age preterm and healthy term children.

The development of fine motor and adaptive skills during the first 2 years of life is reported in 97 high-risk preterm children and 94 healthy term children. Most stages of fine motor and adaptive development were found to occur at slightly later ages among preterm children. Neurological development was significantly correlated with fine motor and adaptive development in preterm children only. No significant influence of prenatal, perinatal and postnatal variables on fine motor and adaptive development was noted. No significant sex differences were observed in both the term and preterm group. The strongest predictors of later intellectual functioning were fine motor performance at 9 months and fine motor and adaptive skills at 18 to 24 months.

Adaptation, Physiological↗

PubMed1988

[Preventive use of vitamin D and fluoride in Austria].

The implementation of the recommended daily vitamin D and fluoride supplements for infants in Austria has been investigated during a nationwide infant nutrition survey (n = 1069). 93.9% of the infants received daily vitamin D supplements, whereas only 38% received fluroide. Rejection of fluoride supplemtation was most common among mothers aged between 30 and 45 years and mothers with university education. In Carinthia, Vorarlberg and Styria only 2 out of 10 infants received fluoride supplements. It seems necessary to reconsider the recommendations for fluoride supplementation in Austria.

Adult↗

PubMed1987

[Roentgen changes in thoracic images in children given leucocyte concentrates].

The cardiac and pulmonary changes on chest X-ray of 12 children with a therapy of transfusions with granulocytes were analyzed. Elevation of the diaphragma was found in all children. In a high percentage we found cardiomegaly and large patchy infiltrations. In a smaller number there were small pleural effusions, interstitial shadows and at least alveolar infiltrations. The possible pathogenic mechanisms for the development of these X-ray changes are discussed and the value of the X-ray is defined.

Adolescent↗