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Biomedical subjects

P De Cock

Publications and source records attributed to P De Cock.

At least 19 recordsLinked to original sources

Aspects of the validity of the Movement Assessment Battery for Children.

Does the Movement Assessment Battery for Children (M-ABC) measures what it claims to measure? The concurrent validity of the total impairment score and some of the item scores of the second and third age band of the M-ABC test were investigated. One hundred thirty three children, between 7- and 9-year-old, were assessed with the M-ABC test, a ball catching test and two tasks measuring dynamic balance. Ninety of these children were identified as children with a poor ball catching skill and 43 children were typically developing children. One hundred and seven children were assessed with the second age band of the M-ABC (the 7- and 8-year-old children) and 26 with the third age band (the 9-year-old children). The results of the correlation analysis between the ball catching test, the two dynamic balance tasks and the corresponding items of the M-ABC, varied from non-significant to a highly significant correlation coefficient of -0.74. For some items concurrent validity was established but other items seemed less valid, probably due to a lack of discriminative power. The concurrent validity of the total impairment score of the M-ABC was confirmed for the second age band. Correlation coefficients between the ball catching test, the dynamic balance skills and the M-ABC varied between -0.72 and -0.76. The results for the third age band have to be interpreted with prudence because they were based on only 26 children.

Child↗

Disability in an urban black community in Zimbabwe.

PURPOSE: This study was undertaken to establish which health conditions are primarily responsible for disability and morbidity in a high-density area in Harare, Zimbabwe. METHOD: House-to-house screening visits were followed up by medical examination and interview of those identified as having a functional limitation. RESULTS: Information was obtained during screening on 10,839 residents. Of these, 608 were examined by medical professionals. The rate of disability/morbidity was 5.6% for the whole sample. Headaches and migraine were the most common problem. These were followed by back pain, hypertension and osteoarthritis. HIV/AIDS was the fifth most common condition. Depression, based on responses to a screening tool, was evident in one-third of the subjects. Common activity limitations included difficulty with the performance of housework activities and with walking. HIV/AIDS resulted in the most severe activity limitation, in that cognitive functions were also affected. CONCLUSION: The middle-aged and elderly with osteoarthritis and young women with depression constitute vulnerable groups who are not in a position to demand services. The older women particularly need assistance as they are bearing the double burden of their own degenerative conditions and the results of the HIV/AIDS pandemic.

Black or African American↗

A randomized study of combined botulinum toxin type A and casting in the ambulant child with cerebral palsy using objective outcome measures.

It is recognized that objective gait analysis is of great value in planning a multilevel botulinum toxin type A (BTX-A) treatment. After BTX-A treatment, objective outcome measures can provide new and interesting information for each individual child with cerebral palsy (CP). Moreover, by studying group results, we may evaluate our treatment hypotheses. The present prospective study attempts to document the effect of integrated multilevel BTX-A treatment on objective gait parameters and to define the optimal strategy for the combined treatment of BTX-A with casting in children with cerebral palsy. Objective three-dimensional gait analysis (3DGA) data were collected pre- and 2 months post-treatment, in two randomized patient groups: a first group of 17 children treated with lower leg casting prior to BTX-A injections, and a second group of 17 patients who received casting immediately after injections. The present study demonstrates that improved gait can be achieved after a multilevel BTX-A treatment, combined with casting, using a set of 90 gait parameters. The most pronounced improvement was seen at the ankle joint. The results in the knee, hip and pelvis imply that multilevel treatment of the child with CP should start at an early age, in order to prevent development of muscle contractures. Slightly more pronounced benefits, mainly in the proximal joints, were seen for the children who were casted after injections as compared to the children who were casted before injections.

Biomechanical Phenomena↗

Single event multilevel botulinum toxin type A treatment and surgery: similarities and differences.

The present study attempts to provide objective evidence of two treatment options for children with cerebral palsy (CP): multilevel botulinum toxin type A (BTX-A) injections and multilevel surgery. The purpose of the study was to clarify the differences and the similarities, and common treatment principles of both treatment strategies. Objective three dimensional gait analysis data were studied retrospectively in two patient groups pre- and post-treatment (randomly selected from a group of children that were treated between 1998 and 1999). In the first group, 29 children with CP were managed with BTX-A injections according to an integrated multilevel approach (Molenaers et al., 1999a). A second group of 23 children with CP were managed by a more traditional single event multilevel surgery, also according to an integrated approach. Our aim was to evaluate the differences as well as the similarities between both patient groups, using a set of 56 parameters selected from three-dimensional gait analysis. The unifying concept between management with BTX-A injections and orthopaedic surgery was the adoption of a multilevel approach at one session. The groups demonstrated considerable differences with respect to age, pretreatment condition and amount and level of improvement after treatment. The children who received BTX-A were typically younger, and showed primary gait problems in the distal joints, whereas the children who underwent surgery demonstrated a higher frequency of gait deviations in the transverse plane and had more complications. Although the benefit of both treatments was confirmed by the present study, a difference in the amount and level of improvement was also demonstrated. In conclusion, these treatment modalities should be regarded as complementary rather than mutually exclusive treatments, with both calling for an integrated approach.

Adult↗

The reliability of the Shona version of the EQ-5D.

BACKGROUND: There is an increasing need to have locally applicable health related quality of life outcome measures that are both reliable and valid. The aim of this paper was to present the Shona version of a Health Related Quality of Life Measure, the EQ-5D (Euro Quality of Life--5 Dimensions) and to examine the reliability and validity of the translated instrument. METHOD: Thirty eight test-retest responses from randomly selected members of a high density suburb in Harare were analysed. The measures of agreement (Kappa statistic) between the two sets of scores were very high and ranged from 0.78 to 1.00 for different domains of activity. The correlation between the two sets of scores in the section of the instrument that calls for valuation of health state on a visual analogue scale (VAS) was high (Spearman's rho = 0.793). It is suggested that, based on this small sample, the EQ-5D is a reliable measure of HRQoL and can be utilised in studies in a high density Shona speaking population.

Health Status Indicators↗

Three young children with Smith-Magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms.

We report on the development and behaviour of three young children with Smith-Magenis syndrome (SMS), del 17p11.2. The behaviour problems and the psychomotor delay in preschool children with SMS are often more striking than the dysmorphic features and can serve as a useful clue to the diagnosis. We compare the behaviour with reported data. The behaviour problems in the three four year olds include very demanding behaviour, severe temper tantrums, hyperactivity, aggressive behaviour, self injurious behaviour, sleeping problems and stereotypic behaviour. Head banging, hand, wrist or finger biting are present. Onychotyllomania is not observed. Insertion of objects in the mouth as well as excessive nose picking is very frequent, although polyembolokoilomania is not present. The so called self hug when excited is present in one child. The behaviour problems and psychomotor delay represent a major management problem for the parents.

Child↗

Separating visual perception and non-verbal intelligence in children with early brain injury.

The relationship between impairments of visual perception and of non-verbal intelligence was studied in 28 children who, due to the nature of their neurological pathology, were at risk for visual perceptual impairments (high-risk), and 18 mentally disabled children without such risk (low-risk). Their age range was 3-14 years. A child was considered specifically visual-perceptually impaired (VPI) if performance on the De Vos task, a visual object recognition task, was weaker than expected from the baseline performance level obtained on non-verbal intelligence subtests. Accordingly, 22 high-risk children (79%) were classified VPI, against only four low-risk children (22%). Comparing intelligence data of children with and without VPI revealed a WPPSI non-verbal to verbal intelligence impairment in the former. At the subtest level, comparing five verbal and five non-verbal WPPSI subtests, and five subtests from the Snijders-Oomen non-verbal intelligence scale, revealed a difference only on Animal House. The absence of any systematic effects of specific visual perceptual impairment on intelligence subtest performance leads us to conclude that in these children VPI and selective non-verbal intelligence impairment coexist as two separate and irreducible deficits.

Brain Injuries↗

Impaired visual perceptual performance on an object recognition task in children with cerebral visual impairment.

Visual perceptual ability and grating acuity were studied in 22 children with cerebral visual impairment (CVI). In most studies indicating visual perceptual impairments in CVI children, the evidence is weakened by the co-presence of reduced nonverbal, relative to verbal, intelligence, which in itself might account for the impaired performance on visual perceptual tasks. Our aim was to show that CVI children's performance on a visual perceptual task is weaker than can be expected from their nonverbal intelligence scores, thus demonstrating an impairment that is specific to visual perception. To this end, we used an object recognition task consisting of 60 line drawings depicting common objects in various aberrant ways. For each drawing, the age was established at which 9 out of 10 normal children could recognise the object depicted. This information was used to select the subset of drawings appropriate for each of the CVI subjects' nonverbal intelligence level, expressed as an age equivalent. Recognition performance on this subset of drawings was impaired in 16 children (72.7%), but was unrelated to visual acuity. We conclude that these children have a specific visual perceptual impairment, which is not reducible to any nonverbal intelligence impairments they might suffer.

Adolescent↗

Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation.

We report on a patient with neurosensory deafness, cataract and moderate mental retardation showing a constitutional mosaicism with the predominant cell line consisting of a 45,XY,-13,-15,+t(13;15) translocation of the Robertsonian type. By means of fluorescence in situ hybridization (FISH) using a panel of acrocentric pericentromeric probes and various banding techniques, the breakpoints in the translocation were determined at 13q12.1 and 15p13 respectively. Five other cell lines were present, at low percentage, one of them showing a t(13;15) tandem translocation. Interstitial telomeric sequences could be detected at the translocation fusion sites in both the Robertsonian and tandem translocations. The mosaicism appears therefore to be a consequence of chromosomal instability involving the t(13;15) fusion region of the predominant cell line, and related to the presence of interstitial telomeric sequences. The present observation suggests that in the pericentromeric 13q12 region, a gene involved in neurosensory deafness may be located.

Cataract↗

Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.

Between 1985 and 1995 eighteen babies, presenting to our department with absent visual contact and roving eye movements, showed a non-recordable flash electroretinogram (fERG). This was confirmed when repeated after a one-year interval. In four patients with developmental delay an underlying systemic disorder was diagnosed after a thorough pediatric neurological evaluation: Senior Loken syndrome, neuroaxonal dystrophy, ceroid lipofuscinosis and a yet unclear metabolic disorder were the revised diagnoses. The fourteen remaining patients were diagnosed as having primary idiopathic Leber Congenital Amaurosis (LCA). Three of them showed developmental delay. In all three cerebellar abnormalities were visualized on brain computed tomography (CT) and/or magnetic resonance imaging (MRI). Brain CT of the other eleven patients with age appropriate development was normal. We conclude that LCA is a diagnosis of exclusion and a cautious approach with a thorough history and pediatric neurological examination is necessary to exclude a more global pediatric neurological disorder.

Belgium↗

Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome.

A child with an atrial septal defect, hypernasal speech with an immobile soft palate, learning difficulties and behavioral problems is reported. The clinical diagnosis in this child was velo-cardio-facial syndrome (VCFS), but cytogenetic analysis showed the presence of a small terminal deletion in 8p23.1-8pter. This observation shows that deletions in 8p23 may lead to features similar to VCFS. This suggests that in patients with VCFS but without a deletion in 22q11, attention should be focussed on 8p.

Child↗

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

The carbohydrate deficient glycoprotein (CDG) syndromes are a family of genetic multisystemic disorders with severe nervous system involvement. This report is on a child with a CDG syndrome that differs from the classical picture but is very similar to a patient reported in 1991. Both these patients are therefore designated CDG syndrome type II. Compared with type I patients they have a more severe psychomotor retardation but no peripheral neuropathy nor cerebellar hypoplasia. The serum transferrin isoform pattern obtained by isoelectric focusing showed disialotransferrin as the major fraction. The serum disialotransferrin, studied in the present patient, contained two moles of truncated monoantennary Sialyl-Gal-GlcNAc-Man(alpha 1-->3)[Man(alpha 1-->6)]Man(beta 1-->4)GlcNAc (beta 1-->4)GlcNAc-Asn per mole of transferrin. A profoundly deficient activity of the Golgi enzyme N-acetylglucosaminyltransferase II (EC 2.4.1.143) was demonstrated in fibroblasts.

Carbohydrate Metabolism, Inborn Errors↗