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      Quality of health and health services in people with fragile X syndrome: perspective of their parents

      Advances in Autism

      Emerald Publishing

      Health care, Autism spectrum disorder, Health status, Fragile X syndrome

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          Abstract

          Purpose

          People with fragile X syndrome (FXS), a monogenetic disorder with frequent autism spectrum disorder symptoms, are confronted with many health-related needs, especially concerning behavioural and mental problems. The number of publications about health inequalities or the usage of health services in persons with FXS is scarce in general. There is no information about the situation in Germany. The paper aims to discuss this issue.

          Design/methodology/approach

          Assessment of health status, access to, and satisfaction with health care in people with fragile X by a questionnaire completed by their parents.

          Findings

          A total of 74 questionnaires were included in the assessment. While children and adolescents with FXS often (40 per cent) utilised specialised services for the coordination of health-related services, adults most often made use of family doctors. Most parents described the health status of their relatives as good to excellent (89 per cent). However, the satisfaction with health care-related demands by family doctors, medical specialists, and psychotherapists was rated in the average to above average range.

          Research limitations/implications

          This paper is of special value as it gives insight into the perspective of parents concerning access to health care of FXS in Germany.

          Originality/value

          This paper gives a first insight concerning access of people with FXS to the German health care system.

          Related collections

          Most cited references 15

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          Smith’s Recognizable Patterns of Human Malformation

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            Is Open Access

            Cytogenetic abnormalities and fragile-x syndrome in Autism Spectrum Disorder

            Background Autism is a behavioral disorder with impaired social interaction, communication, and repetitive and stereotypic behaviors. About 5–10 % of individuals with autism have 'secondary' autism in which an environmental agent, chromosome abnormality, or single gene disorder can be identified. Ninety percent have idiopathic autism and a major gene has not yet been identified. We have assessed the incidence of chromosome abnormalities and Fragile X syndrome in a population of autistic patients referred to our laboratory. Methods Data was analyzed from 433 patients with autistic traits tested using chromosome analysis and/or fluorescence in situ hybridization (FISH) and/or molecular testing for fragile X syndrome by Southern and PCR methods. Results The median age was 4 years. Sex ratio was 4.5 males to 1 female [354:79]. A chromosome (cs) abnormality was found in 14/421 [3.33 %] cases. The aberrations were: 4/14 [28%] supernumerary markers; 4/14 [28%] deletions; 1/14 [7%] duplication; 3/14 [21%] inversions; 2/14 [14%] translocations. FISH was performed on 23 cases for reasons other than to characterize a previously identified cytogenetic abnormality. All 23 cases were negative. Fragile-X testing by Southern blots and PCR analysis found 7/316 [2.2 %] with an abnormal result. The mutations detected were: a full mutation (fM) and abnormal methylation in 3 [43 %], mosaic mutations with partial methylation of variable clinical significance in 3 [43%] and a permutation carrier [14%]. The frequency of chromosome and fragile-X abnormalities appears to be within the range in reported surveys (cs 4.8-1.7%, FRAX 2–4%). Limitations of our retrospective study include paucity of behavioral diagnostic information, and a specific clinical criterion for testing. Conclusions Twenty-eight percent of chromosome abnormalities detected in our study were subtle; therefore a high resolution cytogenetic study with a scrutiny of 15q11.2q13, 2q37 and Xp23.3 region should be standard practice when the indication is autism. The higher incidence of mosaic fragile-X mutations with partial methylation compared to FRAXA positive population [50% vs 15–40%] suggests that faint bands and variations in the Southern band pattern may occur in autistic patients.
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              A review of the evidence for the medical home for children with special health care needs.

              The receipt of health care in a medical home is increasingly touted as a fundamental basis for improved care for persons with chronic conditions, yet the evidence for this claim has not been systematically assessed. Our goal was to determine the evidence for the federal Maternal and Child Health Bureau recommendation that children with special health care needs receive ongoing comprehensive care within a medical home. We searched the nursing and medical literature, references of selected articles, and requested expert recommendations. Search terms included children with special health care needs, medical home-related interventions, and health-related outcomes. Articles that met defined criteria (eg, children with special health care needs, United States-based, quantitative) were selected. We extracted data, including design, population characteristics, sample size, intervention, and findings from each article. We selected 33 articles that reported on 30 distinct studies, 10 of which were comparison-group studies. None of the studies examined the medical home in its entirety. Although tempered by weak designs, inconsistent definitions and extent of medical home attributes, and inconsistent outcome measures, the preponderance of evidence supported a positive relationship between the medical home and desired outcomes, such as better health status, timeliness of care, family centeredness, and improved family functioning. The evidence provides moderate support for the hypothesis that medical homes provide improved health-related outcomes for children with special health care needs. Additional studies with comparison groups encompassing all or most of the attributes of the medical home need to be undertaken.
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                Author and article information

                Contributors
                Journal
                AIA
                10.1108/AIA
                Advances in Autism
                AIA
                Emerald Publishing
                2056-3868
                03 July 2017
                : 3
                Issue : 3 Issue title : Improving access to healthcare Issue title : Improving access to healthcare
                : 125-130
                Affiliations
                Bielefeld, Germany
                Author notes
                Michael Seidel can be contacted at: ham.seidel@web.de
                Article
                596168 AIA-03-2017-0008.pdf AIA-03-2017-0008
                10.1108/AIA-03-2017-0008
                © Emerald Publishing Limited
                Page count
                Figures: 0, Tables: 4, Equations: 0, References: 18, Pages: 6, Words: 2815
                Product
                Categories
                research-article, Research paper
                cat-HSC, Health & social care
                cat-LID, Learning & intellectual disabilities
                Custom metadata
                yes
                yes
                JOURNAL
                included

                Health & Social care

                Fragile X syndrome, Health status, Autism spectrum disorder, Health care

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