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Biomedical subjects

F Haverkamp

Publications and source records attributed to F Haverkamp.

At least 19 recordsLinked to original sources
PubMed2002

Neurodevelopmental outcome after intrauterine red cell transfusion for parvovirus B19-induced fetal hydrops.

OBJECTIVE: To assess long term neurodevelopmental outcome of children after intrauterine intravascular red cell transfusion (JUT) for Parvovirus B19-induced fetal hydrops. DESIGN: Data of study children were investigated retrospectively. Neurodevelopmental evaluation was performed by appropriate standard tests (Griffiths, Snijders-Oomen, Kaufmann Assessment Battery for Children tests). SETTING: Tertiary care university teaching hospital. SAMPLE: Twenty children who had Parvovirus-induced fetal hydrops and intrauterine transfusion of packed red blood cells (IUT). METHODS: Retrospective chart analysis and standard neurodevelopmental testing. MAIN OUTCOME MEASURES: Developmental quotient (DQ) and intelligence quotient (IQ) according to the age at testing. RESULTS: Twenty survivors of Parvovirus B19-induced fetal hydrops successfully treated by IUT were followed until 13 months to nine years of age. On clinical follow up, no neurologic sequelae were evident. Neurodevelopmental scores of all children ranged within two standard deviations of a normal population (median 101, range 86-116) and exceeded one standard deviation in three children. There was no significant neurodevelopmental delay. CONCLUSION: Children having survived successful IUT for Parvovirus B19-induced fetal anaemia and hydrops have a good neurodevelopmental prognosis. Our results support the use of IUT for correction of Parvovirus B19-induced fetal anaemia and subsequent hydrops.

Blood Transfusion, Intrauterine↗
PubMed2002

Growth hormone deficiency in pituitary disease: relationship to depression, apathy and somatic complaints.

OBJECTIVE: Adults with GH deficiency (GHD) have been reported to suffer from increased levels of depression and apathy, which are thought to contribute to the reduced quality of life observed in these patients when compared with healthy controls. Recent studies, however, cast doubt on the attribution of these impairments to GHD as opposed to an unspecific stress response to the chronic medical condition. DESIGN: To further clarify this relationship, we used psychometric tests to quantify depression, apathy and typical psychosomatic complaints in patients with different types of pituitary disease and compared the results with measurements of the patients' widely varying GH status. SUBJECTS AND METHODS: In 98 patients, serum IGF-I was measured and at least one provocative test of the somatotrope pituitary axis was performed (GH-releasing hormone test (GHRHT) and/or insulin tolerance test (ITT)). All patients completed a set of well-established psychometric instruments (Beck Depression Inventory (BDI), Apathy Evaluation Scale (AS) and List of Somatic Complaints (LSC)). In addition, AS was administered in an informant report version for completion by a close relative or friend to verify the validity of the patient's self assessment. RESULTS: No relationship between measures of GHD (IGF-I, GHRHT and ITT) and psychometrically measured depression, apathy or psychosomatic well-being was found. A highly significant linear correlation between scores of all psychometric instruments (BDI, AS and LSC) was found. CONCLUSIONS: The absence of any relationship between the severity of GHD and the level of depression/apathy/psychosomatic complaints suggests that these impairments are not specific symptoms of GHD. The reported improvement of these symptoms under GH substitution therapy might thus be interpreted as a secondary effect of somatic effects of GH substitution. Consequently, indication for GH substitution therapy should not be based on psychological impairments alone without the presence of somatic symptoms of GHD.

Depression↗
PubMed2001

The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.

We tested the hypothesis that genetic variation in the human sodium channel gene SCN2A confers liability to idiopathic generalized epilepsy (IGE). We performed a systematic search for mutations in 46 familial IGE cases and detected three novel polymorphisms, however, allele frequencies did not differ significantly between patients and controls. A rare mutation (R1918H) was identified in one patient but was absent in one further affected family member. Thus, our results do not suggest a major role of SCN2A in the etiology of IGE.

Alleles↗
PubMed2001

Successful cognitive-behavioral habituation training toward photophobia in photogenic partial seizures.

We report on the cognitive-behavioral treatment of a 12-year-old boy with photogenic partial seizures with secondary generalization who had developed phobic avoidant behavior toward all kinds of situations with potential photostimulation, leading to serious impairments of life quality. Based on a behavioral analysis of seizure and anxiety reaction, a habituation training (systematic desensitization procedure) was developed and performed, while maintaining protection against seizures with antiepileptic pharmacotherapy. The treatment was to gradually increase exposure to computer monitor and television screen photostimulation, closely adjusted to the level of subjective distress and tolerance. In addition to exercising control of photogenic input by regulating the monitor control button, rapid relaxation and imagery techniques were taught and applied as countermeasures at the onset of seizure precipitants. The treatment resulted in complete remission of phobic anxieties and responses and may also have facilitated ongoing seizure control after termination of antiepileptic medication.

Anticonvulsants↗
PubMed2001

Neurodevelopmental risks in twin-to-twin transfusion syndrome: preliminary findings.

The purpose of this study was to determine the neurodevelopmental risks in patients with twin-to-twin transfusion syndrome, a rare but serious complication of monochorionic twin gestations. From a total sample of 94 twins with twin-to-twin transfusion syndrome, admitted during 1989 and 1993, 49 patients survived and 40 patients were followed to a mean age of 24 months. Neurological status and psychomotor development (Denver and Griffiths Developmental Tests) were determined. Parameters of the neonatal period were evaluated for their potential prediction. Of the 40 tested patients 18 showed a normal psychomotor development. Thirteen patients exibited a specific delay in language development and/or showed minor neurological dysfunctions. Nine twins had severe psychomotor retardation in combination with cerebral palsy. Major neurological sequelae were found, more common in recipients than in donors (6/19 vs 3/21). Correspondingly, neonatal ultrasound showed more pathological results (especially periventricular leucomalacia) in recipients. Neither anaemia nor polycythaemia at birth can predict developmental outcome. Apart from a high prenatal mortality rate, both twins, donators as well as recipients, are highly at risk for brain damage of different aetiology, associated with abnormal neonatal cerebral ultrasound.

Birth Weight↗
PubMed2001

Evidence of a specific vulnerability for deficient sequential cognitive information processing in epilepsy.

The aim was to study sequential versus simultaneous cognitive information processing and their relation to acquired intellectual abilities in children with epilepsy. A total of 175 children with epilepsy (mean age 8.7 years; SD 2.9) were neuropsychologically examined on the basis of the Kaufman Assessment Battery for Children (K-ABC). To avoid confoundation with factors other than epilepsy, patients with underlying metabolic disorders or patients who were incapable of neuropsychologic testing because of severe mental retardation were excluded. We found significantly reduced cognitive processing, especially in sequential information processing compared with simultaneous information processing (mean score 85.9 versus 91.0). This selective impairment in sequential cognitive processing turned out to be a good statistical predictor for acquired abilities in the group of idiopathic epilepsy (beta = 0.53; P < .01), indicating a specific epileptic neuropsychologic association. Our findings provide evidence of a specific vulnerability for deficient sequential information processing presumably impairing academic achievement in childhood epilepsy.

Child↗
PubMed2001

[Significance of spontaneous motor activity and visual information processing for developmental diagnosis in infancy].

The neurodevelopmental examination during the first years of life is very often confronted with the problem of differentiating between normal variability and pathology of development. Recent research provides evidence about the clinical relevance of the systematic observation and examination of spontaneous movements, of postural control as well as of visual information processing in toddlers.

Developmental Disabilities↗
PubMed2001

[Psychosocial adaptation and compliance in chronic diseases in childhood].

A chronic disease in childhood often entails multidimensional, medical, psychosocial and financial risks which empede efficient adaptation to the disease for the whole family. Aim of this review is to describe possible strategies for effective coping with the chronic disease with the main focus on self-help-competence for the affected child and his family. Furthermore, there are proposals regarding practical handling of therapeutical noncompliance in the chronically ill infant. The family of a child with a chronic disease often contacts nurses for further, non-medical information. Therefore the aim of the review is to inform nurses of the biopsychosocial risks and consequences for every day life as well as to provide them with supportive self-help-strategies of the affected family.

Adaptation, Psychological↗
PubMed2000

Good prognosis for psychomotor development in survivors with nonimmune hydrops fetalis.

We examined the psychomotor development of 33 of 61 surviving children, from a series of 107 consecutive live-born cases with nonimmune hydrops fetalis. The majority had a normal outcome. Three had a (simultaneous) serious underlying disease (e.g. fetal herpes infection) and had either severe psychomotor retardation or blindness. Two showed clumsiness and were considered to have minor neurological dysfunction. We conclude that survivors, especially those with transient benign intrauterine conditions, such as lymphatic aetiology have no additional risk to their psychomotor development.

Child↗
PubMed2000

Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.

We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narrowing down the locus to between DXS6837 and GS1.

Arylsulfatases↗
PubMed2000

Evidence for altered basal ganglia and cortical functions in transient idiopathic dystonia.

Idiopathic dystonia with onset in the first year of life has been described as a transient movement disorder, in contrast to other forms of idiopathic dystonia We report on a girl who showed, from her 5th month, episodes of dystonic postures of her neck and arm, which lasted for seconds and occurred several times a day. Neurologic findings and the psychomotor development were and remained normal. Neurometabolic screening tests and cerebral magnetic resonance imaging showed normal results. Functional cerebral imaging showed decreased perfusion of the basal ganglia and the left temperomesial cortex using single photon emission computed tomography (SPECT with technetium 99m hexamethylpropyleneamine oxime [99mTc-HMPAO]) and decreased glucose metabolism in the basal ganglia and the cerebellum using positron emission tomography (PET with [18F]fluorodeoxyglucose [18FDG]). Follow-up revealed that the episodes disappeared at the age of 16 months. The findings of PET and SPECT give evidence of an alteration in basal ganglia function but also in functions of other central nervous system regions, which may, however, be temporary.

Basal Ganglia↗
PubMed2000

Symptomatic versus substitution growth hormone therapy in short children: from auxology towards a comprehensive multidimensional assessment of short stature and related interventions.

There is an ongoing debate as to whether symptomatic growth hormone treatment (GHT) in short children without growth hormone deficiency (GHD) is justified, since there is no substitutional indication. The increasing evidence that final height cannot be normalized in these patients (e.g. in Ullrich-Turner syndrome) reinforces this controversy. We have focused on the empirical evidence on the psychosocial and physical meaning of being short in childhood as well as on the underlying assumptions of the different GHT indications. The indication for GHT in patients with non-GHD may be seen as a pharmacotherapeutic intervention in order to prevent the developmental, physical and psychosocial risks associated with short stature. This requires a qualitative shift in methodological assessment with respect to the psychosocial and physical impact of being short as well as of the potential benefit of new treatment indications in terms of a more comprehensive evaluation including health-related quality of life for these patients.

Body Height↗
PubMed1999

Congenital hydrocephalus internus and aqueduct stenosis: aetiology and implications for genetic counselling.

UNLABELLED: Genetic counselling in families with congenital hydrocephalus internus (CHI) in combination with aqueduct stenosis (AS) is often difficult due to an uncertain aetiology. We present a series of 35 patients with CHI and AS focusing on the aetiology and presumed recurrence risk for siblings. In 13 patients (37.1%) a genetic aetiology was identified with an increased recurrence risk for siblings. The relative frequency of patients with X-linked hydrocephalus in our sample was in accordance with the literature (2/35), but was more frequent in other diseases with Mendelian inheritance. CONCLUSION: In addition to the well-known X-linked and autosomal recessive forms of aqueduct stenosis with hydrocephalus, this malformation can occur in other diseases with Mendelian inheritance. This finding is of considerable importance for genetic counselling and prognosis.

Cerebral Aqueduct↗
PubMed1999

Growth retardation in Turner syndrome: aneuploidy, rather than specific gene loss, may explain growth failure.

The etiology of short stature (SST) in Turner syndrome (TS) is still a subject of speculation. A variety of hypotheses have been put forward, from SST as a result of increased intrauterine tissue pressure after fetal lymphedema to haploinsufficiency of a specific growth gene(s). These hypotheses have various statistical-auxological implications on the growth distribution in TS. Empirical research has provided no clear evidence for any of these theories, but the well known correlation between patients' and midparental height (MPH) could be established. The influence of undetected mosaic status has often been cited as a major problem in the investigation of growth in TS. However, an assessment of mosaic status (simultaneous analysis of karyotype and phenotype) and its effect on growth with inclusion of MPH has been not yet carried out for a large sample. The aim of this study was to evaluate growth and its complex relationship to mosaic status and MPH in TS. In a mixed cross-sectional and longitudinal study we retrospectively analyzed the auxological and clinical data of 447 patients with a pure loss of X-chromosomal material (n = 381 with 45,X0; n = 66 mosaics). The 447 patients were selected from a series of 609 consecutive patients with TS. To assess the effect of mosaic status on growth, we computed a bifactorial analysis of variance (phenotype, karyotype), including MPH as a covariate. In line with the mosaic hypothesis, we found a correlation between individual loss of X-chromosomal material and phenotypical expressivity. In contrast, no correlation was found with respect to growth. With respect to MPH, we found growth retardation (GR) even in those patients with "normal" height above the third percentile (-2 or more SD score). The interindividual variance of GR in TS (comparable to growth variance in the normal population) seems to be unrelated to other TS-specific factors (e.g. mosaic status or single gene loss). Instead, both interindividual variance and the global growth shift distribution are best explained by the presence of an unspecific aneuploidic effect. Furthermore, consideration of patient height in relation to MPH should lead to a better understanding of the nature of GR in TS than the commonly used, strictly qualitative definition of SST.

Adolescent↗