Exploring the Adult Life of Men and Women With Fragile X Syndrome: Results From a National Survey

University of Wisconsin, Madison, WI, USA.
American Journal on Intellectual and Developmental Disabilities (Impact Factor: 2.08). 01/2011; 116(1):16-35. DOI: 10.1352/1944-7558-116.1.16
Source: PubMed


Using data from a national family survey, the authors describe the adult lives (i.e., residence, employment, level of assistance needed with everyday life, friendships, and leisure activities) of 328 adults with the full mutation of the FMR1 gene and identify characteristics related to independence in these domains. Level of functional skills was the strongest predictor of independence in adult life for men, whereas ability to interact appropriately was the strongest predictor for women. Co-occurring mental health conditions influenced independence in adult life for men and women, in particular, autism spectrum disorders for men and affect problems for women. Services for adults with fragile X syndrome should not only target functional skills but interpersonal skills and co-occurring mental health conditions.

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Available from: Murrey G. Olmsted, Oct 08, 2014
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    • "Data are incomplete regarding several aspects of FXS, including epidemiology, clinical and psychosocial characteristics of patients, treatment pathways, and patient-oriented parameters, including quality of life. To the best of our knowledge, the only systematic recording of data takes place in the USA in the context of individual projects, namely by the Fragile X Clinical & Research Consortium (FXCRC), with its FORWARD Registry and Database, and by our Fragile X World Surveys (twice per year, also supported by the U.S. Centers for Disease Control) [14,33-35]. "
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    ABSTRACT: Fragile X syndrome (FXS), caused by a mutation of the FMR1 gene on the X chromosome, is the most common inherited form of intellectual disability and autism spectrum disorders. Comprehensive data are lacking, however, on the characteristics and management patients with FXS in Germany.Methods/design: EXPLAIN is a prospective, observational, longitudinal registry with a non-probability sampling approach. It collects data on patient characteristics, therapeutic interventions, psychosocial parameters (including those of family members and caregivers), quality of life of caregiver and patient, caregiver burden, and health economic parameters, such as hospitalisation time. It is designed to include data from 300 patients in ambulatory care from about 50 centres that employ psychiatrists, paediatricians, neurologists, and other relevant specialists, in Germany. The study was initiated in March, 2013. Patients will be followed for at least two years. The registry is expected to provide much-needed data on the characteristics and management of patients with FXS in Germany. It will also allow comparisons with other countries, and will enable gap analyses based on current guidelines for management of these patients.Trial registration: The identifier is NCT01711606.
    Full-text · Article · Dec 2013 · BMC Psychiatry
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    • "Individuals with FXS often have severe behavior problems, including inattention, hyperactivity, aggression, and anxiety, and autism symptoms.Bailey et al. (2008) found that 30% of the mothers of young children with FXS had clinically significant scores on the Parenting Stress Index. This pattern of elevated behavior problems and autism symptoms continues into adolescence and adulthood (Bailey, Raspa, et al., 2008; Hartley et al., 2011). Indeed, mothers of adolescents and adults with FXS, on average, report higher levels of parenting stress, lower psychological well-being, and more health problems than normative samples (Bailey, Sideris, et al., 2008; Franke et al., 1996; Johnston et al., 2003; Sarimski, 1997; van Lieshout, De Meyer, Leopold, Curfs, & Fryns, 1998; von Gontard et al., 2002). "
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    ABSTRACT: Mothers of adolescents and adults with fragile X syndrome (FXS) are faced with high levels of parenting stress. The extent to which mothers are negatively impacted by this stress, however, may be influenced by their own genetic status. The present study uses a diathesis-stress model to examine the ways in which a genetic vulnerability in mothers with the premutation of the FMR1 gene interacts with child-related environmental stress to predict their morning cortisol levels. Seventy-six mothers of an adolescent or adult with FXS participated in an 8-day telephone diary study in which they reported on the behavior problems of their son or daughter with FXS each day. We analyzed salivary cortisol collected from mothers at awakening and 30 minutes after awakening on 4 of these days. The results indicated that mothers with greater genetic vulnerability had a lower level of cortisol on mornings following days when their son or daughter with FXS manifested more episodes of behavior problems, whereas mothers with less genetic risk evinced the opposite pattern of higher morning cortisol in response to their child's behavior problems. This finding contributes to our understanding of gene-by-environment interactions and highlights the importance of interventions to alleviate parenting stress in mothers raising children with FXS.
    Full-text · Article · Jul 2012 · International Journal of Behavioral Development
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    • "Women who are heterozygous for the full FMR1 mutation are less cognitively impaired than men, with about one-third presenting with ID and the rest exhibiting IQs in the borderline to low normal range [11,16,17]. Although the majority of women with FXS are not intellectually disabled, they often manifest a wide range of psychiatric and cognitive impairments, including anxious disorders, attention deficit-hyperactivity disorders, ASD and executive deficits [24,25]. "
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    ABSTRACT: Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability (ID), as well as the most frequent monogenic cause of autism spectrum disorder (ASD). Men with FXS exhibit ID, often associated with autistics features, whereas women heterozygous for the full mutation are typically less severely affected; about half have a normal or borderline intelligence quotient (IQ). Previous findings have shown a strong association between ID and ASD in both men and women with FXS. We describe here the case of two sisters with ASD and FXS but without ID. One of the sisters presented with high-functioning autism, the other one with pervasive developmental disorder not otherwise specified and low normal IQ. The methylation status of the mutated FMR1 alleles was examined by Southern blot and methylation-sensitive polymerase chain reaction. The X-chromosome inactivation was determined by analyzing the methylation status of the androgen receptor at Xq12. Both sisters carried a full mutation in the FMR1 gene, with complete methylation and random X chromosome inactivation. We present the phenotype of the two sisters and other family members. These findings suggest that autistic behaviors and cognitive impairment can manifest as independent traits in FXS. Mutations in FMR1, known to cause syndromic autism, may also contribute to the etiology of high-functioning, non-syndromic ASD, particularly in women. Thus, screening for FXS in patients with ASD should not be limited to those with comorbid ID.
    Full-text · Article · Jun 2012 · Molecular Autism
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