A multidisciplinary approach to the management of individuals with fragile X syndrome

Alanay, Yasemin; Ünal, Fatih; Turanlı, Güzide; Alikaşifoğlu, Mehmet; Alehan, Dursun; Akyol, Umut; Belgi̇n, Erol; Şener, Cumhur; Aktaş, Dilek; Boduroğlu, Koray; Ütine, Eda; Salancı, Bilge Volkan; Ozusta, Seniz; Genç, Aydan; Başar, Fatma; Sevinç, Şebnem; Tunçbılek, Ergül

doi:10.1111/j.1365-2788.2006.00942.x

Cited by 31 publications

(28 citation statements)

References 37 publications

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“…showing a stronger phenotype and a greater degree of intellectual disability than females (Alanay et al, 2007). The behavioral phenotype includes language impairment, social anxiety, gaze aversion, repetitive and self-injurious behavior (see Hagermann & Hagermann, 2002).…”

Section: Assessment Of Social Anxiety Inmentioning

confidence: 99%

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

Adams¹,

Oliver²

2011

Clinical Psychology Review

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The expression of emotions and internal states by individuals with severe or profound intellectual disabilities is a comparatively under-researched area. Comprehensive or standardised methods of assessing or understanding the emotions and internal states within this population, whose ability to communicate is significantly compromised, do not exist.The literature base will be discussed and compared to that within the general population.Methods of assessing broader internal states, notably depression, anxiety, and pain within severe or profound intellectual disabilities are also addressed. Finally, this review will examine methods of assessing internal states within genetic syndromes, including hunger, social anxiety and happiness within Prader-Willi, Fragile-X and Angelman syndrome. This will then allow for the identification of robust methodologies used in assessing the expression of these internal states, some of which may be useful when considering how to assess emotions within individuals with intellectual disabilities.

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Section: Assessment Of Social Anxiety Inmentioning

confidence: 99%

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

Adams¹,

Oliver²

2011

Clinical Psychology Review

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“…60,61 Earlier studies reported that the prevalence of strabismus in boys with FXS ranged from 27% to 57%. 8,[56][57][58] Later prospective studies reported the prevalence to range from 4.4% 16 to 8% 55 of boys with FXS. In the FXCRC Database, the prevalence of strabismus was higher overall (16.4%) and particularly in boys (17.5%) ( Table 1).…”

Section: Ocular Disordersmentioning

confidence: 99%

Section: Ocular Disordersmentioning

confidence: 99%

“…16,55,56 Children with FXS, many of whom need glasses, are reported to have a high prevalence of refractive errors, ranging from 13% to 17%. 16,55 In earlier studies, there were 59% with hyperopia, 17% with myopia, and 22% to 40% with astigmatism. 57,58 The variability probably occurs because children with FXS are difficult to evaluate for visual acuity because of developmental delays, attention problems, anxiety, and sensory processing issues.…”

Section: Ocular Disordersmentioning

confidence: 99%

“…14 In studies with better methods, there have been variable findings: 5 of 23 adult patients had MVP on echocardiography, 10 1 of 17 children had typical examination findings of MVP but not on electrocardiography or echocardiography, 15 and 3 of 22 patients had abnormal echocardiographic evidence of MVP. 16 In the largest sample studied before that of the FXCRC, patients with FXS were routinely referred for cardiologic evaluation and were similar across the age spectrum. 17 In this study, Loehr et al 17 reported a high prevalence of MVP of 55%, compared with the 2 patients (0.8%) in the FXCRC Database (Table 1).…”

Section: Review Cardiac Disordersmentioning

confidence: 99%

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Fragile X Syndrome: A Review of Associated Medical Problems

et al. 2014

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Fragile X syndrome (FXS) is the most common known genetic cause of inherited intellectual disability and the most common known singlegene cause of autism spectrum disorder. It has been reported that a spectrum of medical problems are commonly experienced by people with FXS, such as otitis media, seizures, and gastrointestinal problems. Previous studies examining the prevalence of medical problems related to FXS have been challenging to interpret because of their marked differences in population, setting, and sampling. Through this comprehensive review, we update the literature by reviewing studies that have reported on prominent medical problems associated with FXS. We then compare prevalence results from those studies with results from a large cross-sectional database consisting of data collected by fragile X clinics that specialize in the care of children with FXS and are part of the Fragile X Clinical and Research Consortium. It is vital for pediatricians and other clinicians to be familiar with the medical problems related to FXS so that affected patients may receive proper diagnosis and treatment; improved care may lead to better quality of life for these patients and their families. Pediatrics 2014;134:995-1005

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Fragile X syndrome—From genes to cognition

Schneider

Hagerman

Hessl

2009

Dev Disabil Res Revs

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Fragile X syndrome (FXS), a single gene disorder with an expanded CGG allele on the X chromosome, is the most common form of inherited cognitive impairment. The cognitive deficit ranges from mild learning disabilities to severe intellectual disability. The phenotype includes hyperactivity, short attention span, emotional problems including anxiety, social avoidance, poor eye contact, and hyperarousal to sensory stimuli. Imaging studies in FXS have clarified the impact of the FMR1 mutation on brain development and function by documenting structural abnormalities, predominantly in the caudate nucleus and cerebellum, and functional deficits in the caudate, frontal-striatal circuits, and the limbic system. On the basis of current research results, a targeted treatment for FXS will be available in the near future. Currently, a number of psychopharmacological agents are helpful in treating many of the problems in FXS including hyperactivity, attention deficits, anxiety, episodic aggression, and hyperarousal. Although the targeted treatments aim at strengthening synaptic connections, it is essential that these treatments are combined with learning programs that address the cognitive deficits in FXS.

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A multidisciplinary approach to the management of individuals with fragile X syndrome

Cited by 31 publications

References 37 publications

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

The expression and assessment of emotions and internal states in individuals with severe or profound intellectual disabilities

Fragile X Syndrome: A Review of Associated Medical Problems

Fragile X syndrome—From genes to cognition

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