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Biomedical subjects

A Heiberg

Publications and source records attributed to A Heiberg.

At least 19 recordsLinked to original sources
PubMed1992

Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).

During a systematic chromosomal survey of 7 unrelated patients with Rubinstein-Taybi syndrome, an apparently balanced de novo reciprocal translocation, t(7;16)(q34;p13.3), was detected in an affected boy. The involvement of the region 16p13.3 coincides with the position of one of the breakpoints in another de novo reciprocal translocation associated with Rubinstein-Taybi syndrome, suggesting that a locus for this syndrome maps to 16p13.3.

Child↗
PubMed1992

Growth and nutrition in 10 girls with Rett syndrome.

Cross-sectional and retrospective data on growth and anthropometric outcome, feeding problems and dietary intake are presented for 10 girls between three and 16 years of age with Rett syndrome. All girls had birth weight and length within the normal range for gestational age and development was considered normal until six to 24 months of age. The girls presented a fall off in linear growth during the first two years of life and at the time of study, all but one had height and/or weight for height below the 2.5th percentile of healthy children. The girls had good appetite but could not eat by themselves and oral-motor dysfunctions were common. The mean energy intake was 66.9% of the US recommendations according to age and 107.8% of the recommendations according to body weight. The intakes of thiamin, vitamin D, calcium and iron were considered low. None was anaemic. Different nutritional intervention strategies should be investigated to reduce and, if possible, prevent malnutrition and wasting in girls with Rett syndrome.

Adolescent↗
PubMed1992

Prenatal prediction of spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a common cause of inherited morbidity and mortality in childhood. The wide range of phenotypes in SMA, uncertainty regarding its mode of inheritance, and the suggestion of linkage heterogeneity have complicated the genetic counselling of parents of affected children. The locus responsible for autosomal recessive SMA has been mapped to 5q11.2-q13.3. The most likely order of loci is cen-D5S6-(SMA,D5S125)-(JK53CA1/2,D5S112)-D5S3 9-qter, with highly polymorphic loci being identified at JK53CA1/2 and D5S39. We describe linkage studies with another highly polymorphic locus, D5S127, that is closely linked to D5S39. This genetic map can be used as the basis for genetic counselling in families with autosomal recessive SMA. Appropriate allowance can be made for sporadic cases owing to non-inherited causes and for linkage heterogeneity or misdiagnoses.

Base Sequence↗
PubMed1992

[Frambu Health Center: information to families with functionally impaired members].

Frambu Health Centre is an information and treatment centre serving many different categories of disabled children and their families, primarily Norwegian but also from the other Scandinavian countries. The aim is to support the family in their task of caring for the disabled person, and to improve the handicapped person's ability to function despite the disablement both in the home and at school or at work. The staff at the centre are specialised in the management of rare and poorly understood conditions, and work in cooperation with the appropriate services in the person's home town. A certain amount of research is also carried out at the centre into the life situation of handicapped people.

Activities of Daily Living↗
PubMed1992

Feeding problems in children with congenital heart disease: the impact on energy intake and growth outcome.

Cross-sectional data on growth outcome, upper-arm measurements and energy intake have been analysed according to the presence or absence of early feeding problems and poor appetite in 40 children (0.9-13 years) with congenital heart disease (CHD). At the time of study, refusal to eat or poor appetite was reported as a significant problem in 19 children and subnormal height and/or weight were recorded in 11 children. The children ate considerably less calories than recommended for healthy children. The cross-sectional analyses showed that children with poor appetite had significantly (P less than 0.05 and P less than 0.01) lower outcome values of growth and upper-arm measurements than their disabled counterparts with no feeding problems and good appetite. Children with feeding problems also tended to eat less than children without feeding problems. For most parents (65%) feeding of infants and children with CHD involves difficulties, time and anxiety. This study has shown that the parents' experience about feeding problems may be a good predictor for low growth outcome and low voluntary food intake of the child. Whenever feeding problems are reported, nutritional intervention should be offered in order to increase the caloric intake of the child and to develop a sound feeding relationship in the family.

Adolescent↗
PubMed1991

Feeding problems, height and weight in different groups of disabled children.

Two hundred and twenty-one disabled children from seven diagnostic groups have been examined with respect to height, weight and prevalence of four different feeding problems. Retarded growth and feeding problems were common in children with cerebral palsy, mental retardation, congenital heart disease and deaf-blindness, but rare in children with esophagus atresia, cystic fibrosis and epilepsy. Mean relative height and weight were significantly lower (p much less than 0.01) in children with mechanical feeding problems, such as impairment of self-feeding skills and oral-motor dysfunction, than in children without these problems, regardless of diagnostic group. Mean relative weight was also significantly lower in children with poor appetite than in children with good appetite. Feeding problems contribute to short stature and underweight in severely disabled children.

Adolescent↗
PubMed1991

The impact of feeding problems on growth and energy intake in children with cerebral palsy.

Retrospective data on growth and cross-sectional data on growth outcome, anthropometric measurements and energy intake have been analysed according to the presence or absence of feeding problems in 42 children with cerebral palsy (CP) between 1 and 13 years of age. The mean age for boys and girls was 5.1 and 5.9 years, respectively. The study revealed a high frequency of feeding problems (50%) and growth retardation (48%) in the group. The results of weight for height, triceps skinfold thickness and energy intake indicate that 15% of the children were undernourished at the time of study. The cross-sectional analyses showed that children with feeding problems at the time of study (n = 22) had significantly lower height for age, weight for height, triceps skinfold thickness and upper-arm circumference than children without problems (P less than 0.05). Children with feeding problems also tended to have lower energy intake, but the differences were not significant. The feeding problems were most frequent among the severely disabled children. This study has shown that the presence of feeding problems is one important predictor of low growth outcome in children with CP. When parents report on feeding problems, feeding evaluation, training and nutritional intervention should be offered immediately. This is important for alleviating the heavy care-load for parents and health-workers and for some children it may be necessary to maintain an acceptable nutritional state.

Adolescent↗
PubMed1991

[Prader-Willi syndrome].

In the multifactorial aetiology of childhood obesity, Prader-Willi syndrome (PWS), probably is the commonest cause of abnormal overweight. The estimated prevalence of which is 1 in 10,000-25,000. Most of the approximately 75 known cases in Norway concern patients under 20 years of age. Recent years have witnessed a marked increase in our knowledge of the genetic aspects of PWS. Treatment needs to be multidisciplinary in approach, and to be started early to forestall a number of organic complications associated with reduced appetite control and significant overweight.

Child↗
PubMed1991

Energy and nutrient intakes of disabled children: do feeding problems make a difference?

We examined the effect of feeding problems and alternative feeding practices on the energy and nutrient intakes of disabled children. Subjects were 221 disabled children aged 1 to 16 years from seven diagnostic groups: a 4-day food record was obtained for 166 children. The children's energy and nutrient intakes were examined in relation to the presence or absence of four feeding problems (gross motor/self-feeding impairment, oral-motor dysfunction, lack of appetite, food aversions) and two alternate feeding practices (prolonged assisted feeding and use of pureed foods). Cross-sectional analyses showed that children with feeding problems or alternative feeding practices had lower energy and nutrient intakes than did children without these factors. The presence of oral-motor dysfunction or prolonged assisted feeding significantly reduced relative energy intake. In general, differences in energy and nutrient intakes between children with and without other feeding problems or practices were small, and few statistically significant differences were found. The findings indicate that some feeding problems may reduce food intake in disabled children, although this effect is lessened by the conscientious efforts of parents. Parents and families of disabled children should receive dietary counseling to prevent deteriorative effects on the physical growth and health of children with long-standing feeding problems.

Adolescent↗
PubMed1990

[Charcot-Marie-Tooth disease. Peroneal muscular atrophy].

The classification of Charcot-Marie-Tooth disease is provisional, because the chromosome and gene localization is still not precisely known, and gene products have not been identified. This article presents an analysis of the clinical, genetical and neurophysiological data of eight Charcot-Marie-Tooth patients. The study was carried out to find out if it is possible to classify the disease from neurophysiological and genetical data. We found Charcot-Marie-Tooth disease transmitted autosomal dominant in three cases, whereas no family pattern was apparent in the remaining five. Among the three cases of autosomal dominant transmission, two were of the segmental demyelinization type, and one had axonal neuropathy. The five patients without a distinct family pattern consisted of three with segmental demyelinization and two with axonal neuropathy. Thus, the neurophysiological subdivision did not correlate with the inheritance, which indicates a genetical heterogeneity for the Charcot-Marie-Tooth disease.

Adolescent↗
PubMed1990

[Are prosecuted parents allowed the benefit of the doubt in cases of child abuse?].

The justified campaign against child abuse has unfortunately had a side effect. It has ruined the lives of some innocent parents of children with undiagnosed osteogenesis imperfecta. For 15 years, Colin Paterson and co-workers have studied a large number of patients with type IV of osteogenesis imperfecta, and have found that more than 50 per cent of them have normal radiographs of the bones at the time of the first fracture. Paterson and co-workers have also found that fractures of the ribs and skull are by no means uncommon in osteogenesis imperfecta type IV. These important observations should help, in the future, to prevent prosecution of innocent parents of children with osteogenesis imperfecta type IV, provided that the observations are not overlooked by pediatricians.

Child↗
PubMed1990

Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia.

Patients who are homozygous for ataxia-telangiectasia (AT) have an exceptionally high incidence of cancer. Heterozygous individuals for the disease have been reported to be at an increased risk of cancer, particularly breast cancer in female carriers. We have analyzed eight Norwegian families with AT for cancer incidence in the parents, in the parents' sibs, grandparents, and grandparents' sibs. Two of the obligate heterozygote females have had premenopausal breast cancer. This incidence is significantly higher than expected for that group. No increase in the cancer incidence was observed in the parents' sibs, the grandparents, or the grandparents' sibs. Since the incidence of AT is low, data from many sources have to be combined to allow any conclusion.

Ataxia Telangiectasia↗
PubMed1990

No evidence for genetic linkage of Gilles de la Tourette syndrome on chromosomes 7 and 18.

Gilles de la Tourette syndrome is a heritable neuropsychiatric disorder. In order to determine the chromosomal localisation of the locus involved, genetic linkage studies were initiated in six extended families. The Gilles de la Tourette gene has been tentatively assigned to chromosome 18q22.1. In our present study no evidence for genetic linkage on chromosome 18 and chromosome 7 was obtained. Data from the markers tested made it possible to exclude the whole of chromosome 18 and the chromosome 7q21.3-qter region as a site for the Gilles de la Tourette gene.

Chromosome Mapping↗
PubMed1988

Social-medical aspects of cystic fibrosis in Norway. I. Characterization of the material.

The families of 90 children with cystic fibrosis and the families of 1977 control children have answered extensive questionnaires, which are the basis for this study. In the first part of the study the two groups are compared for some important factors, to detect differences that would make further analysis of the material questionable. The two groups were commensurable concerning their economic situation, standard of housing, ages of children, and the family situation in general. The educational level of the parents in the two groups did differ, the parents of children with cystic fibrosis having less education. The parents of children with cystic fibrosis were more dissatisfied with their situation than those in the control group. These differences are probably a result of having cystic fibrosis in the family; consequently, it is concluded that the two groups can well be compared.

Adolescent↗
PubMed1987

Evidence for a sperm mutation resulting in Duchenne muscular dystrophy.

DNA analysis of Xp21 markers in a family with two brothers affected with Duchenne muscular dystrophy (DMD) revealed that the mutation most likely had occurred in a grandpaternal sperm. There is therefore a low risk that the maternal aunts and their daughters are carriers of the DMD gene.

DNA↗
PubMed1986

Late-onset hereditary myopathy with abnormal mitochondria and progressive dementia.

A family with autosomal dominant late-onset progressive dementia and myopathy is described. Electron microscopy of muscle revealed abnormal mitochondria in the proband. Thus, the disease may be classified as a "mitochondrial encephalomyopathy". The cases are unique because dementia was a dominating feature and because the symptoms developed late in life. These cases may represent a new subgroup of the mitochondrial encephalomyopathies.

Dementia↗
PubMed1985

Linkage relationships of the gene for apolipoprotein CII with loci on chromosome 19.

Two common restriction fragment length polymorphisms detected with cloned gene probes for apolipoprotein CII (apo CII) have been used to study the inheritance of the gene in families segregating for loci on chromosome 19. Lod scores for APOC2 with the gene for complement component 3 (C3) exclude close linkage and give a maximum at a male recombination fraction of 0.25-0.30. Lod scores for APOC2 and FHC, the gene causing familial hypercholesterolaemia, are negative in males and suggest the genes may not be linked. However, it appears that APOC2 may be closely linked to the blood group loci Lutheran (Lu) and Secretor (Se), and probably less closely linked to Lewis (Le). These data are consistent with the gene order: FHC-----C3-----(Lu, Se, APOC2)

Apolipoprotein C-II↗