Determinants of receipt of assistance benefit and welfare services in a group of disabled adults in Norway

A survey of 472 chronically ill and disabled Norweigan adults with four different main diagnoses (asthma/allergy, hemophilia, osteogenesis imperfecta and rheumatic disease) was carried out during a period of 3 years. The purpose was to analyse the factors influencing their use of available Social Insurance and Welfare services. The participants were interviewed and their medical records studied. Compared to the total population their level of education was lower and fewer were active in the work force. Available social insurance benefits had been obtained by almost half of the patients with hemophilia and osteogenesis imperfecta, but very few with asthma/allergy and rheumatic disease. Patients with high family income and/or high educational level had received relatively more social insurance benefits than others. Men had obtained more benefits than women and young patients more than the older ones. The need for practical welfare services was high, particularly in families where a parent or daughter looked after the patient, where the patient had several additional diagnoses, and among the female patients. There was a higher unmet need for welfare services among patients suffering form asthma/allergy and rheumatic diseases than among those with hemophilia and osteogenesis imperfecta. There were marked regional differences in the granting of both social insurance and welfare services.

Aspects of living conditions among groups of disabled children and their families in Norway: Family situation, mothers' health, financial assistance

A survey of 875 disabled children in Norway aged 0-19, representing ten different disabling conditions, was carried out between January 1976 and December 1978. Parents of the disabled children were interviewed, medical records studied and the children examined. Mother's age, level of education, presence of disabled siblings, spouse's education and profession as well as emergency situations related to the disabled child's condition appeared to be factors influencing the mother's health and therefore inevitably the family's ability to cope with the situation. Social insurance seemed to have been granted in a rather haphazard way; only families of children suffering from hemophilia, mental retardation, spina bifida and cerebral palsy seemed to have received fairly adequate social insurance benefits. Families of children suffering from juvenile rheumatoid arthritis, asthma, congenital heart disease and epilepsy had received less social insurance assistance than those in the other groups. One-parent families had received more social insurance than others. Families with children who were totally dependent on their parents, who had several diagnoses or had spent much time in hospital, had also been granted more social insurance. Welfare benefits distributed by local authorities had mainly been given to families who were also receiving social insurance benefits and to families of children with brain damage. Almost half of all families expressed needs for welfare benefits which had not been met. Thus, there seemed to be an underconsumption of both social insurance and welfare benefits, particularly among some diagnostic groups.

Detection of Hemizygous Chromosomal Copy Number Variants in Williams-Beuren Syndrome (WBS) by Duplex Quantitative PCR Array: An Unusual Type of WBS Genetic Defect

We have developed a dual probe quantitative PCR (qPCR ) mini array enabling a more accurate analysis of the relationship between copy number variants (CNVs) and other genomic features in specific areas. We used it to map hemizygous microdeletion on human chromosome 7 around the elastin gene (ELN), which is the molecular basis of the Williams-Beuren syndrome (WBS). In two WBS patients, the haploid content of the elastin gene was ascertained previously by the fluorescence in-situ hybridization (FISH). Our dual-color qPCR assay used this information to normalize for DNA content in all tests. We mapped the extent of the deleted area using 10 loci spanning over 4 Mb. A border region containing the GTF2I gene, usually deleted in most cases, was found about 10 times amplified in both patients, suggesting an unusual type of the WBS genetic defect. This 10-WBS-loci-specific qPCR assay could be an affirmative diagnostic tool alternative to FISH. Due to low cost, it could be used as a screening test that would not only facilitate research on CNVs, but also allow early diagnosis of the disease, as well-timed diagnosis would benefit WBS children with earlier proper health-care measures

Cherubism: panoramic and CT features in adults

Objectives: To describe the panoramic radiographic and CT features of cherubism in an unselected series of 15 adults. Methods: In this cross-sectional study, 15 individuals aged 29–84 years with familial non-syndromal molecularly confirmed cherubism were examined with panoramic radiography and CT. Bone abnormalities were analysed and described. Results: 11 (73%) of the 15 adults had mandibular abnormalities. These abnormalities ranged from subtly detectable to severe, and were less prevalent and expansive but could be rather similar to the characteristic image features in children. Unilocular radiolucencies were more common than multilocular radiolucencies, and a specific feature of these abnormalities was that they were exclusively found in the anterior mandible. Conclusions: The radiographic and CT abnormalities of cherubism in adults were frequent and extremely heterogeneous, with some distinct features. © 2013 The Authors. Published by the British Institute of Radiolog

Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia—a comparative study

Purpose The relationship between quality of life, psychological distress, and orofacial syndromes in children and adolescents has been reported in several studies. However, little is known about differences in psychological distress and quality of life among adults with different orofacial conditions. Therefore, the aims of this study were to examine and compare these factors among three groups of adults affected by Treacher Collins syndrome (TCS), cherubism, and oligodontia/ectodermal dysplasia (ED). Methods We included 11 individuals with TCS (mean age 46.9, SD 12.9 years), 15 with cherubism (mean age 50.3, SD 16.8 years), and 49 with oligodontia/ED (mean age 30.7, SD 15.6 years). The respondents completed questionnaires related to psychological distress and quality of life. Results The oligodontia/ED group had a significantly higher level of anxiety and worse mental health-related quality of life than both the TCS and cherubism groups. Adults with TCS reported the highest level of depression, and the lowest levels of overall quality of life, well-being, and physical health-related quality of life. The cherubism group displayed the best overall quality of life, well-being, and mental health. Conclusions Psychological distress and quality of life differed in various orofacial conditions. This study provided insight into these aspects that may contribute to improved care. This article is distributed under the terms of the Creative Commons Attribution License which Permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited

Severe tooth wear in Prader-Willi syndrome. A case–control study

<p>Abstract</p> <p>Background</p> <p>Prader-Willi syndrome (PWS) is a rare complex multsystemic genetic disorder characterized by severe neonatal hypotonia, endocrine disturbances, hyperphagia and obesity, mild mental retardation, learning disabilities, facial dysmorphology and oral abnormalities. The purpose of the present study was to explore the prevalence of tooth wear and possible risk factors in individuals with Prader-Willi syndrome.</p> <p>Methods</p> <p>Forty-nine individuals (6-40 years) with PWS and an age- and sex-matched control group were included. Tooth wear was evaluated from dental casts and intraoral photographs and rated by four examiners using the Visual Erosion Dental Examination (VEDE) scoring system and the individual tooth wear index I_A. In accordance with the VEDE scoring system, tooth wear was also evaluated clinically. Whole saliva was collected.</p> <p>Results</p> <p>Mean VEDE score was 1.70 ± 1.44 in the PWS group and 0.46 ± 0.36 in the control group (p < 0.001). Median I_A was 7.50 (2.60-30.70) in the PWS group and 2.60 (0.90-4.70) among controls (p < 0.001). In the PWS group tooth wear correlated significantly with age (VEDE; r = 0.79, p < 0.001, I_A; r = 0.82, p < 0.001) and saliva secretion (VEDE; r = 0.46, p = 0.001, I_A; r = 0.43, p = 0.002). Tooth grinding was also associated with tooth wear in the PWS group, as indicated by the mean VEDE 2.67 ± 1.62 in grinders and 1.14 ± 0.97 in non-grinders (p = 0.001) and median I_A values 25.70 (5.48-68.55) in grinders and 5.70 (1.60-9.10) in non-grinders (p = 0.003). Multivariate linear regression analysis was performed with tooth wear as the dependent variable and PWS (yes/no), age, tooth grinding and saliva secretion as independent variables. PWS (yes/no), age and tooth grinding retained a significant association with tooth wear, VEDE (p < 0.001) and log I_A (p < 0.001). The only factor significantly associated with tooth wear in the control group was age.</p> <p>Conclusions</p> <p>Our study provides evidence that tooth wear, in terms of both erosion and attrition, is a severe problem in Prader-Willi syndrome. There is therefore considerable need for prosthodontic rehabilitation in young adults with PWS.</p