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

      research-article
      Michael Seidel
      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 references15

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          What can we learn about autism from studying fragile X syndrome?

          Despite early controversy, it is now accepted that a substantial proportion of children with fragile X syndrome (FXS) meets diagnostic criteria for autism spectrum disorder (ASD). This change has led to an increased interest in studying the association of FXS and ASD because of the clinical consequences of their co-occurrence and the implications for a better understanding of ASD in the general population. Here, we review the current knowledge on the behavioral, neurobiological (i.e., neuroimaging), and molecular features of ASD in FXS, as well as the insight into ASD gained from mouse models of FXS. This review covers critical issues such as the selectivity of ASD in disorders associated with intellectual disability, differences between autistic features and ASD diagnosis, and the relationship between ASD and anxiety in FXS patients and animal models. While solid evidence supporting ASD in FXS as a distinctive entity is emerging, neurobiological and molecular data are still scarce. Animal model studies have not been particularly revealing about ASD in FXS either. Nevertheless, recent studies provide intriguing new leads and suggest that a better understanding of the bases of ASD will require the integration of multidisciplinary data from FXS and other genetic disorders. Copyright © 2011 S. Karger AG, Basel.
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            Smith’s Recognizable Patterns of Human Malformation

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              Tracking health care service use and the experiences of adults with autism spectrum disorder without intellectual disability: A longitudinal study of service rates, barriers and satisfaction

              Adults with Autism Spectrum Disorder (ASD) encounter many difficulties finding and accessing health care services. Despite this, few studies have considered the health service use patterns of adults with ASD without intellectual disability (ID).
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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
                [1]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
                d5055694-a08b-4686-96b0-60260292f6d3
                © Emerald Publishing Limited
                History
                : 07 March 2017
                : 27 April 2017
                : 11 May 2017
                : 13 May 2017
                Page count
                Figures: 0, Tables: 4, Equations: 0, References: 18, Pages: 6, Words: 2815
                Categories
                research-article, Research paper
                cat-HSC, Health & social care
                cat-LID, Learning & intellectual disabilities
                Custom metadata
                yes
                yes
                JOURNAL
                included

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

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