Fragile‐X syndrome – a 20‐year follow‐up study of male patients

Arvio, Maria

doi:10.1111/cge.12639

Cited by 11 publications

(20 citation statements)

References 17 publications

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“…The average functional level of male patients shows an improving trend until the age of 25, even remaining below that of the general population. Then, patients enter a relatively stable phase until the age of 50; at that time, the skills of FXS males begin to worsen [24]. …”

Section: Discussionmentioning

confidence: 99%

“…Although a specific abnormality of the connective tissue has not yet been shown, the prevalence of connective tissue signs has suggested that there is an underlying connective tissue anomaly, perhaps similar to that observed in CTDs (in particular, Marfan Syndrome and Ehlers-Danlos Syndrome); the precise association between FXS and signs of connective tissue abnormality still awaits biochemical and molecular explanation [38]. The skin can be soft [24, 39, 40], and joint hypermobility is present in about half of the patients, affecting predominantly the small joints (mostly metacarpal-phalangeal joints) [6, 24, 39, 40]. Skeletal signs may include a high-arched palate, scoliosis, pectus excavatum, and flat feet [6, 9, 24, 39, 40].…”

Section: Discussionmentioning

confidence: 99%

“…The skin can be soft [24, 39, 40], and joint hypermobility is present in about half of the patients, affecting predominantly the small joints (mostly metacarpal-phalangeal joints) [6, 24, 39, 40]. Skeletal signs may include a high-arched palate, scoliosis, pectus excavatum, and flat feet [6, 9, 24, 39, 40]. …”

Section: Discussionmentioning

confidence: 99%

“…Strabismus and refractive errors have a higher prevalence in FXS than in the general population [6, 8, 24, 45]: that prevalence, considerably variable with studies, is 8–40% for strabismus and 17–59% for refractive errors (primarily hyperopia and astigmatisms, but myopia is also reported) [8, 24, 43, 44, 46]. Nystagmus has been identified as a less rare finding (5–13%) [43, 46]; other observable ocular features include palpebral ptosis and convergence insufficiency [46].…”

Section: Discussionmentioning

confidence: 99%

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Fragile X syndrome: a review of clinical and molecular diagnoses

et al. 2017

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BackgroundFragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000–7000 men and 1:4000–6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5′ UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS. The aim of this review was to gather the current clinical and molecular knowledge about FXS to provide clinicians with a tool to guide the initial assessment and follow-up of FXS and to offer to laboratory workers and researchers an update about the current diagnostic procedures.DiscussionFXS is a well-known condition; however, most of the studies thus far have focused on neuropsychiatric features. Unfortunately, some of the available studies have limitations, such as the paucity of patients enrolled or bias due to the collection of the data in a single-country population, which may be not representative of the average global FXS population. In recent years, insight into the adult presentation of the disease has progressively increased. Pharmacological treatment of FXS is essentially symptom based, but the growing understanding of the molecular and biological mechanisms of the disease are paving the way to targeted therapy, which may reverse the effects of FMRP deficiency and be a real cure for the disease itself, not just its symptoms.ConclusionsThe clinical spectrum of FXS is wide, presenting not only as an isolated intellectual disability but as a multi-systemic condition, involving predominantly the central nervous system but potentially affecting any apparatus. Given the relative high frequency of the condition and its complex clinical management, FXS appears to have an important economic and social burden.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Fragile X syndrome: a review of clinical and molecular diagnoses

et al. 2017

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“…The British Present Psychiatric State‐Learning Disabilities assessment (PPS‐LD) was used for the screening of dementia signs. This PPS‐LD questionnaire includes 27 items and has been used in Finland as a tool in the dementia diagnostics, particularly among people who have ID (Arvio, ; Arvio, Ajasto, Koskinen, & Louhiala, ; Arvio & Bjelogrlic‐Laakso, ; Cooper, ,b; Mölsä, ).…”

Section: Methodsmentioning

confidence: 99%

Signs indicating dementia in Down, Williams and Fragile X syndromes

Sauna‐aho

Bjelogrlic-Laakso

Siren

et al. 2018

Molec Gen & Gen Med

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BackgroundIntellectual disability (ID) and dementia reflect disturbed cortical function during and after developmental age, respectively. Due to the wide heterogeneity of ID population the decline in cognitive and adaptive skills may be different in distinct genetic subgroups.MethodsUsing the British Present Psychiatric State–learning Disabilities assessment (PPS‐LD) questionnaire the dementia signs were screened in 62, 22 and 44 individuals (> 35 year of age) with Down (DS, OMIM number 190685), Williams (WS, OMIM number, 194050), and Fragile X syndrome (FXS, OMIM number 309550), respectively. The median age of those with FXS (59 years) was higher than of those with DS (50 years) and WS (53 years).ResultsMost study participants with DS (80%) and FXS (89%) were or had been moderately or severely intellectually disabled while most participants with WS (73%) were or had been mildly or moderately disabled at adolescent age. The adolescent (premorbid) level of ID did not correlate with the dementia score. The median scores were 11/27, 1/27, and 0/27 in DS, WS, and FXS subgroups, respectively. Dementia that was confirmed by brain imaging, manifested as Alzheimer disease and as moya‐moya disease associated vascular dementia in DS and as vascular dementia in WS.ConclusionsThis survey suggests that the risk of dementia varies depending on the cause of ID and that the severity of ID in adolescence does not predict the development of dementia at a later age. Consequently, the ID and dementia should be understood as separate clinical entities that need to be taken into account in the health management of intellectually disabled people. This is important for the arrangement of appropriate and timely interventions, which can be expected to delay the need for institutionalization.

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