Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents

Remmerden, M.C. Van; Hoogland, L.M.P.; Mous, Sabine E.; Dierckx, Bram; Coesmans, Michiel; Moll, Henriëtte A.; Lubbers, Kyra; Lincken, C.R.; Eeghen, Agnies M. van

doi:10.1007/s10803-019-03973-7

Cited by 14 publications

(12 citation statements)

References 55 publications

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“…York et al reported that educators and health caregivers taking care of down syndrome patients, autistic children and FXS children demonstrated to have limited knowledge of FXS (33). Results from the present review of the literature, in general, show that lack of expertise among health care providers is a major barrier for people with FXS (23,25). This lack of knowledge about FXS can result in important medical consequences.…”

Section: Practice Implicationsmentioning

confidence: 73%

“…The lack of knowledge of physicians and pediatricians with regards to FXS, was a concern for parents in this period. The atypical presentation of children may make FXS hard to diagnose, and the parents reported that their children received treatment for the child's symptoms before finally requesting chromosomal or FXS testing (22)(23)(24)(25)(26). Poelhmann et al narrated situations of distress arising from the difficulties of the child to attain developmental milestones or the long and difficult process of getting to a diagnosis.…”

Section: Grief and Response To Diagnosismentioning

confidence: 99%

“…Ten authors described the challenges of caring for a child with FXS (19,20,(22)(23)(24)(25)(26)(27)(28)(29). Throughout childhood and adolescence, parents described challenges in dealing with behavioral difficulties, especially when skills like speaking and communication are compromised.…”

Section: Challenges Of Caring For a Child With Fxsmentioning

confidence: 99%

“…Parents described situations of having difficulties obtaining specialized services or support from the community. In the Dutch (26) and African (24) (25). A lack of support from family members especially the spouse can constitute a source of distress (22)(23)(24).…”

Section: Challenges Of Caring For a Child With Fxsmentioning

confidence: 99%

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Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies

et al. 2020

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Fragile X Syndrome (FXS) is the most common x-linked monogenic cause of Intellectual Disability (ID) and Autism Spectrum Disorder (ASD). Taking care of children with ID is challenging and overwhelming due to the multiple facets of caregiving. This scoping review aimed at summarizing the qualitative literature on the experiences of families living with FXS, identify key themes and determine the gaps in the extant literature. We conducted a literature search in May 2019 using four databases; PubMed, Web of Science, African-Wide-Information, and Scopus. The keywords used in our search strategy were associated with caregivers, lived experiences, FXS, and qualitative research. All English language articles with full-text reporting were included. Studies associated with other neurodevelopmental conditions and quantitative studies were excluded. We identified 12 out of 203 articles that described the lived experiences of families with FXS. Most articles originated from the United States of America and mothers were the main caregivers. We summarized our findings into four major themes which are; grief experiences, challenges of living with FXS, coping mechanisms and the need to plan for future outcomes. This scoping review highlights the scarcity of qualitative FXS literature in the African population and frustrations endured by families with FXS due to the low knowledge of FXS by healthcare workers. More research is needed to evaluate the impact of living with FXS in males and fathers.

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Section: Practice Implicationsmentioning

confidence: 73%

Section: Grief and Response To Diagnosismentioning

confidence: 99%

Section: Challenges Of Caring For a Child With Fxsmentioning

confidence: 99%

Section: Challenges Of Caring For a Child With Fxsmentioning

confidence: 99%

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Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies

et al. 2020

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“…An area that seems to be particularly problematic in severe and profound intellectual disabilities and in part in moderate intellectual disabilities is that of the motor learning [Bruns, Ehl & Grosche, 2019]. And finally a series of issues in adaptive behaviors will complicate the lives of these persons causing problems in meeting the demands of everyday life that have to be accomplished by children of the same age, issues in the recognition of acceptable behaviors for the socio-cultural context of the person and in the ability to socialize using tools of communication with other members of the community where they live [Van Remmerden, Hoogland, Mous, Dierckx & Coesmans et al, 2020].…”

Section: Introductionmentioning

confidence: 99%

The Impact of Cognitive Impairment in Children with Intellectual Disabilities

Elshani¹,

Dervishi

Ibrahimi

et al. 2020

JICD

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The focus of the present study is to identify the most compromised aspects of cognitive impairment and how children with intellectual disabilities cope with them. A sample of 53 school aged children with intellectual disabilities (N = 24) female and (N = 29) male from 5 to 11 years old. Montreal Cognitive Assessment scale (MoCA) and Raven’s Standard Progressive Matrices (IQ) to children with intellectual disabilities were used for conducting research. Generally, children with intellectual disabilities experience high and moderate levels of cognitive impairments and a low IQ. There is a significant positive relationship between age and IQ among girls and boys. In addition to cognitive impairment, a positive relation between impaired cognitive function, a high level of global disability in children with intellectual disabilities and a poor executive and memory functions were associated with difficulties in daily life activities. IQ is also a significant index of cognitive impairment and how children interact with others. Cognitive impairment is a major cause of low adoption with the environment and a significant factor that affects rehabilitation outcomes. Yet, there have been a limited number of studies that have evaluated the psychometric MoCA in children with severe intellectual disabilities, but it is necessary to identify possible difficulties in children with ID related to cognitive functions in young patients with mild to moderate impairment.

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“We are not a typical family anymore”: Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia

Luermans,

Fleming,

O'Shea

et al. 2023

American J of Med Genetics Pt A

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A diagnosis of the X‐linked condition Fragile X syndrome (FXS) in a child commonly reveals the mother's carrier status. Previous research focused on the genetic counseling process for the child and maternal family, despite calls for more research on the support needs of fathers. This study explored experiences and support needs of fathers at least 1 year after their child's FXS diagnosis to understand barriers and enablers and optimize health outcomes for the family. In‐depth interviews were conducted with 11 fathers recruited through the Australian Genetics of Learning Disability Service and the Fragile X Association. Deidentified transcripts were analyzed using thematic analysis guided by an inductive approach. Four themes emerged: (1) making life easier through understanding—yesterday and today, (2) the path to a new normal—today and tomorrow, (3) seeking information and support, and (4) what men want. Fathers reported diagnostic odysseys, postdiagnostic grief, and challenges adjusting. They highlighted difficulties in understanding their child's unique behaviors and needs, responding to their partner's psychological support needs, planning for their child's future, and navigating complex health and disability systems. Participants suggested health professionals facilitate father‐to‐father support and psychological counseling. These findings highlight the unmet needs of fathers and suggest that a strengths‐based approach is critically important given the recognized mental health impact.

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Growing up with Fragile X Syndrome: Concerns and Care Needs of Young Adult Patients and Their Parents

Cited by 14 publications

References 55 publications

Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies

Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies

The Impact of Cognitive Impairment in Children with Intellectual Disabilities

“We are not a typical family anymore”: Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia

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