Functional Skills of Individuals With Fragile X Syndrome: A Lifespan Cross-Sectional Analysis

2009 ◽  
Vol 114 (4) ◽  
pp. 289-303 ◽  
Author(s):  
Donald B. Bailey ◽  
Melissa Raspa ◽  
David Holiday ◽  
Ellen Bishop ◽  
Murrey Olmsted
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Intervention Programs ◽  
Specific Intervention ◽  
Functional Skills ◽  
Cross Sectional ◽  
Complex Sentences ◽  
Female Children ◽  
Males And Females ◽  
Sectional Analysis

Abstract Parents of 1,105 male and 283 female children with fragile X syndrome described functional skill attainment in eating, dressing, toileting, bathing/hygiene, communication, articulation, and reading. The majority of adult children had mastered many skills independently. Most adults were verbal, used the toilet, dressed, ate independently, bathed, and used a towel independently. However, some skills were not as well-developed, such as using complex sentences, reading, or speaking at a typical rate. As expected, significant differences were found between males and females. The findings highlight major skill attainments, identify skills that should be the target of specific intervention programs, suggest variable trajectories to be tested more precisely through direct assessments and longitudinally, and provide baseline data for treatment studies.

scholarly journals Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis

2019 ◽  
Vol 49 (11) ◽  
pp. 4595-4602 ◽  
Author(s):  
Eleanor M. Eckert ◽  
Kelli C. Dominick ◽  
Ernest V. Pedapati ◽  
Logan K. Wink ◽  
Rebecca C. Shaffer ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Cross Sectional ◽  
Cross Sectional Analysis ◽  
Sectional Analysis

scholarly journals Autism Symptoms Across Adulthood in Men with Fragile X Syndrome: A Cross-Sectional Analysis

2015 ◽  
Vol 45 (11) ◽  
pp. 3668-3679 ◽  
Author(s):  
Sigan L. Hartley ◽  
Anne C. Wheeler ◽  
Marsha R. Mailick ◽  
Melissa Raspa ◽  
Iulia Mihaila ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Autism Symptoms ◽  
Cross Sectional ◽  
Cross Sectional Analysis ◽  
Sectional Analysis

Sleep problems in fragile X syndrome: Cross‐sectional analysis of a large clinic‐based cohort

2021 ◽  
Author(s):  
Dejan B. Budimirovic ◽  
Dragana D. Protic ◽  
Carol M. Delahunty ◽  
Howard F. Andrews ◽  
Tse‐Hwei Choo ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Sleep Problems ◽  
Fragile X ◽  
Cross Sectional ◽  
Cross Sectional Analysis ◽  
Sectional Analysis

scholarly journals Developmental and Behavioral Pediatricians' Attitudes Toward Screening for Fragile X

2013 ◽  
Vol 118 (4) ◽  
pp. 284-293 ◽  
Author(s):  
Kruti Acharya ◽  
Abigail Schindler
Keyword(s):  
Health Care ◽  
Newborn Screening ◽  
Fragile X Syndrome ◽  
Health Care Providers ◽  
Response Rate ◽  
Fragile X ◽  
Educational Interventions ◽  
Care Providers ◽  
Cross Sectional Survey ◽  
Cross Sectional

Abstract Developmental and behavioral pediatricians (DBP) diagnose and care for children with fragile X syndrome. Their attitudes toward FMR1 newborn screening (NBS) and FMR1 carrier testing in childhood could highlight potential pitfalls with FMR1 NBS. We conducted a cross-sectional survey with an adjusted response rate of 61%. Among DBP, 74% supported universal FMR1 NBS, preferring to identify both full mutations and premutations. DBP also support FMR1 testing of asymptomatic siblings. Although DBP support testing for premutations at various points in the lifespan, DBP are not familiar with the array of fragile X–associated disorders (FXAD). Targeted educational interventions are needed to ensure that all health care providers have the knowledge and competence to consent and to counsel families on FXAD.

scholarly journals Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome

2020 ◽  
Vol 10 (4) ◽  
pp. 239
Author(s):  
Debra L. Reisinger ◽  
Rebecca C. Shaffer ◽  
Nicole Tartaglia ◽  
Elizabeth Berry-Kravis ◽  
Craig A. Erickson
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Repetitive Behavior ◽  
Autism Spectrum ◽  
Repetitive Behaviors ◽  
Motor Behaviors ◽  
Sensory Motor ◽  
Adolescents And Adults ◽  
Males And Females ◽  
The Impact

Restricted repetitive behaviors (RRBs) are a core area of impairment in autism spectrum disorder (ASD), but also affect several other neurodevelopmental disorders including fragile X syndrome (FXS). Current literature has begun to describe the RRB profile in FXS up through adolescence; however, little is known about the subtypes of RRBs in adolescents and adults. Further, literature on the RRB profile of females with FXS is limited. The present study examines the RRB profile across subtypes and specific items in both males and females with FXS while assessing for differences based on age, ASD diagnosis and the impact of IQ. Participants included 154 individuals with FXS (ages 2 to 50 years old). Results revealed a peak in RRB severity in FXS between 7–12 years for the majority of RRB subscales with the exception of Sensory-Motor behaviors peaking between 2 and 12 years before declining. Distinct RRB profiles in males and females with FXS emerged in addition to significant overlap among the item and subscale levels of RRBs across gender. Further, an added diagnosis of ASD significantly increased rates of RRBs across all subscale levels, but not necessarily across all items. Lastly, IQ did not solely account for the presence of RRBs in FXS, with Sensory-Motor behaviors being driven by comorbid ASD in males with FXS, and Restricted Interest behaviors being driven by comorbid ASD regardless of gender. These findings build on the current understanding of RRBs in FXS based on gender and comorbid ASD and lay important groundwork for the development of targeted behavioral and pharmacological treatments.

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

2011 ◽  
Vol 116 (1) ◽  
pp. 16-35 ◽  
Author(s):  
Sigan L Hartley ◽  
Marsha Mailick Seltzer ◽  
Melissa Raspa ◽  
Murrey Olmstead ◽  
Ellen Bishop ◽  
...  
Keyword(s):  
Mental Health ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Adult Life ◽  
Autism Spectrum ◽  
Health Conditions ◽  
Functional Skills ◽  
Employment Level ◽  
Men And Women ◽  
Mental Health Conditions

Abstract 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.

scholarly journals Biobehavioral Indicators of Social Fear in Young Children With Fragile X Syndrome

2013 ◽  
Vol 118 (6) ◽  
pp. 447-459 ◽  
Author(s):  
Bridgette L. Tonnsen ◽  
Svetlana V. Shinkareva ◽  
Sara C. Deal ◽  
Deborah D. Hatton ◽  
Jane E. Roberts
Keyword(s):  
Young Children ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Theoretical Models ◽  
Control Group ◽  
Heart Activity ◽  
Cross Sectional ◽  
Age Dependent ◽  
Distress Vocalizations ◽  
And Behavior

Abstract Anxiety is among the most impairing conditions associated with Fragile X syndrome (FXS) and is putatively linked to atypical physiological arousal. However, few studies have examined this association in young children with FXS. The authors examined whether patterns of arousal and behavior during an experimental stranger approach paradigm differ between a cross-sectional sample of 21 young children with FXS and 19 controls (12–58 months old). Groups did not differ in mean levels of behavioral fear. Unlike the control group, however, the FXS group demonstrated increased facial fear at older ages, as well as age-dependent changes in associations between heart activity and distress vocalizations. These findings may inform theoretical models of anxiety etiology in FXS and early detection efforts.

scholarly journals Sweetened beverages intake, hyperuricemia and metabolic syndrome. The Mexico City Diabetes Study

2013 ◽  
Vol 55 (6) ◽  
pp. 557 ◽  
Author(s):  
Rubén López-Molina ◽  
Socorro Parra-Cabrera ◽  
Ruy López-Ridaura ◽  
María E González-Villalpando ◽  
Ele Ferrannini ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Uric Acid ◽  
Mexico City ◽  
Low Income ◽  
Population Based ◽  
Cross Sectional ◽  
Sweetened Beverages ◽  
Potential Association ◽  
Males And Females ◽  
Sectional Analysis

Objective. To determine prevalence of hyperuricemia and its relation with intake of sweetened beverages (SB) and metabolic syndrome (MS) in low income urban Mexican population. aterials and methods. A cross-sectional analysis of The Mexico City Diabetes Study, a prospective population-based investigation (1 173 participants) was performed. We used logistic egression, adjusted by pertinent variables. We determined prevalence of hyperuricemia and explored associations of uric acid levels with MS and intake of SB. Results. Prevalence of hyperuricemia was 26.5 and 19.8% in males and females respectively. In an djusted multivariate model, body mass index, waist circumference,and triglyceride were higher as uric acid quartiles increased (p<0.005-0.001). The odds ratio for MS was 1.48 for 3rd uric acid quartile and 2.03 for 4th quartile. Higher consumption of SB was associated with higher uric acid levels (p<0.001). Conclusion. Prevalence of hyperuricemia is high. Potential association with intake of SB, resulting in metabolic altera- tions should be considered.

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