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

Hartley, Sigan L.; Seltzer, Marsha Mailick; Raspa, Melissa; Olmstead, Murrey; Bishop, Ellen; Bailey, Donald B.

doi:10.1352/1944-7558-116.1.16

Cited by 91 publications

(107 citation statements)

References 31 publications

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“…In the case presented, the genetic-clinical characteristics with reference to the facial dysmorphisms (elongated face, arched palate and prognathism), anomalies of the auricular pavillion (large, protruding ears), macroorchidism and flaccid ligaments, in conjunction with complete mutation in gene FMR1, confirmed the diagnosis of Fragile X syndrome (1)(2)(3)(4)(5)(6)(7)(8) .…”

Section: Discussionmentioning

confidence: 54%

“…The participant was diagnosed with intellectual disability compatible with that described in the literature for the Fragile X syndrome (2,(4)(5)(6) . In his family there are other confirmed cases of the syndrome, which is responsible for approximately 14% of all the idiopathic intellectual disabilities in the male gender, and for one third of all the intellectual disabilities linked to X (1) .…”

Section: Discussionmentioning

confidence: 90%

“…This chromosomal fragility it not the cause, but the cytogenetic expression of the mutation of a gene located in this region, designated FMR-1 (3) . As general characteristics are various degrees of intellectual disability, behaviors in the autistic spectrum, language alterations, convulsions, strabismus, hypotonia, flaccid joints, increased cephalic perimeter, flat feet, narrow face, high forehead, thin lips, macrodontia, macro-orchidia, long and large nose, arched and narrow palate, prognathism, anomalies of the auricular pavillion and cardiac malformations , particularly prolapse of the mitral valve (4,5) .…”

Section: Introductionmentioning

confidence: 99%

“…It mentions the occurrence of hyperactivity, attention deficit, hypersensitivity to stimuli, behavioral disorders, anguish in unknown situations, shyness, repetitive discourse, avoidance of eye contact and stereotyping, difficulty with socialization and difficulty in acquiring independence in daily life activities, particularly in the male gender (3,(5)(6)(7)(8) .…”

Section: Introductionmentioning

confidence: 99%

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Síndrome do X Frágil com variante de Dandy-Walker: estudo clínico das manifestações comunicativas orais e escritas

Lamônica

Ferraz

Ferreira

et al. 2011

J. Soc. Bras. Fonoaudiol.

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A síndrome do X Frágil é a causa mais frequente de deficiência intelectual hereditária. A variante de Dandy-Walker trata-se de uma constelação específica de achados neurorradiológicos. Este estudo relata achados da comunicação oral e escrita de um menino de 15 anos com diagnóstico clínico e molecular da síndrome do X-Frágil e achados de neuroimagem do encéfalo compatíveis com variante de Dandy-Walker. A avaliação fonoaudiológica foi realizada por meio da Observação do Comportamento Comunicativo, aplicação do ABFW - Teste de Linguagem Infantil - Fonologia, Perfil de Habilidades Fonológicas, Teste de Desempenho Escolar, Teste Illinois de Habilidades Psicolinguísticas, avaliação do sistema estomatognático e avaliação audiológica. Observou-se: alteração de linguagem oral quanto às habilidades fonológicas, semânticas, pragmáticas e morfossintáticas; déficits nas habilidades psicolinguísticas (recepção auditiva, expressão verbal, combinação de sons, memória sequencial auditiva e visual, closura auditiva, associação auditiva e visual); e alterações morfológicas e funcionais do sistema estomatognático. Na leitura verificou-se dificuldades na decodificação dos símbolos gráficos e na escrita havia omissões, aglutinações e representações múltiplas com o uso predominante de vogais e dificuldades na organização viso-espacial. Em matemática, apesar do reconhecimento numérico, não realizou operações aritméticas. Não foram observadas alterações na avaliação audiológica periférica. A constelação de sintomas comportamentais, cognitivos, linguísticos e perceptivos, previstos na síndrome do X-Frágil, somada às alterações estruturais do sistema nervoso central, pertencentes à variante de Dandy-Walker, trouxeram interferências marcantes no desenvolvimento das habilidades comunicativas, no aprendizado da leitura e escrita e na integração social do indivíduo.

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Section: Discussionmentioning

confidence: 54%

Section: Discussionmentioning

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Síndrome do X Frágil com variante de Dandy-Walker: estudo clínico das manifestações comunicativas orais e escritas

Lamônica

Ferraz

Ferreira

et al. 2011

J. Soc. Bras. Fonoaudiol.

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“…Few studies have described the adult experience of persons with FXS. 9 SB is a birth defect that occurs when the neural tube fails to close properly during fetal development. The life experience of people with SB is related to the level of the neural tube defect and the presence or absence of hydrocephalus.…”

mentioning

confidence: 99%

Use of State Administrative Data Sources to Study Adolescents and Young Adults with Rare Conditions

Royer¹,

Hardin

McDermott

et al. 2014

J GEN INTERN MED

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BACKGROUND: Effective care of young people with rare conditions requires ongoing coordinated medical treatment as well as educational and social support services. However, information on treatment is often lacking due to limited data. South Carolina has a repository of comprehensive health and human service data with which individuals may be tracked across the data systems of multiple state agencies and organizations. OBJECTIVE: To develop a method for studying health care of young persons with rare conditions using this repository. METHODS: We identified individuals aged 15 to 24 years diagnosed during 2000-2010 with Fragile X syndrome (FXS), spina bifida (SB), or muscular dystrophy (MD) using a series of algorithms. ICD-9-CM codes were used to initially identify the cohort from medical billing data. Demographics, medical care, employment, education, and socioeconomic status data were then extracted from linked administrative sources. RESULTS: We identified 1,040 individuals with these rare conditions: 125 with FXS, 695 with SB, and 220 with MD. The vast majority of the cases (95 %) were identified in the Medicaid database. Half of the cohort was male, with a higher percentage in the FXS and MD groups. Sixty-two percent of the cohort was enrolled in the last year of high school. Over half of the cohort received support services from the state's disability and special-needs agency; 16 % received food assistance. Thirty-eight percent were employed at some point during the study period. Forty-nine individuals with SB and 56 with MD died during the study period. CONCLUSIONS: We used a linked statewide data system to study rare conditions. Strengths include the diversity of information, rigorous identification strategies, and access to longitudinal data. Despite limitations inherent to administrative data, we found that linked state data systems are valuable resources for investigating important public health questions on rare conditions.

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Epidemiology of fragile X syndrome: A systematic review and meta‐analysis

Hunter

Rivero‐Arias

Angelov

et al. 2014

American J of Med Genetics Pt A

339

268

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Prevalence estimates for fragile X syndrome vary considerably. This systematic review and meta-analysis was conducted to provide an accurate prevalence estimate for this disorder using primary publications in PubMed, Embase, and the Cochrane library. Data were pooled using Bayesian fixed-effects and random-effects models. Primary analyses assessed the frequency of the full mutation and premutation in males and females in the total population (no bias against individuals with intellectual disability) and in female carriers of the premutation in normal populations (biased against individuals with intellectual disability), based on diagnosis by polymerase chain reaction or Southern blotting. A sensitivity analysis included studies using any diagnostic testing method and conference abstracts. Sixty-eight recorded observations provided data for the primary (56 observations) and sensitivity (12 observations) analysis. Using the random-effects model, frequency of the full mutation was 1.4 (95% CI: 0.1-3.1) per 10,000 males and 0.9 (95% CI: 0.0-2.9) per 10,000 females (1:7,143 and 1:11,111, respectively) in the total population. The premutation frequency was 11.7 (95% CI: 6.0-18.7) per 10,000 males and 34.4 (95% CI: 6.3-83.3) per 10,000 for females (1:855 and 1:291, respectively) in the total population. The prevalence of female carriers of the premutation in the normal population was 34.4 (95% CI: 8.9-60.3) per 10,000, or 1:291. Sensitivity analyses resulted in similar prevalence estimates but with wider heterogeneity. Prevalence estimates for the full mutation from this meta-analysis are lower than those in previous reviews of fragile X syndrome epidemiological data.

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

Cited by 91 publications

References 31 publications

Síndrome do X Frágil com variante de Dandy-Walker: estudo clínico das manifestações comunicativas orais e escritas

Síndrome do X Frágil com variante de Dandy-Walker: estudo clínico das manifestações comunicativas orais e escritas

Use of State Administrative Data Sources to Study Adolescents and Young Adults with Rare Conditions

Epidemiology of fragile X syndrome: A systematic review and meta‐analysis

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