Fragile X syndrome

Turk, Jeremy

doi:10.1097/yco.0b013e328349bb77

Cited by 28 publications

(13 citation statements)

References 92 publications

(79 reference statements)

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“…5–11 Boys typically have moderate to severe intellectual disability, with average IQ scores <55. Other areas of weakness include short-term and working memory, spatial memory, auditory and sequential processing, abstract thinking, executive function, and mathematical thinking.…”

Section: Resultsmentioning

confidence: 99%

“…Other areas of weakness include short-term and working memory, spatial memory, auditory and sequential processing, abstract thinking, executive function, and mathematical thinking. 5–11 Areas of strength for boys include receptive vocabulary, visual memory, simultaneous processing, experiential learning, and imitation. 5–11 This profile of cognitive challenges persists across groups of high-, mid-, and low-functioning individuals.…”

Section: Resultsmentioning

confidence: 99%

“…5–11 Areas of strength for boys include receptive vocabulary, visual memory, simultaneous processing, experiential learning, and imitation. 5–11 This profile of cognitive challenges persists across groups of high-, mid-, and low-functioning individuals. 12 …”

Section: Resultsmentioning

confidence: 99%

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Public Health Literature Review of Fragile X Syndrome

2017

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OBJECTIVES The purpose of this systematic literature review is to describe what is known about fragile X syndrome (FXS) and to identify research gaps. The results can be used to help inform future public health research and provide pediatricians with up-to-date information about the implications of the condition for individuals and their families. METHODS An electronic literature search was conducted, guided by a variety of key words. The search focused on 4 areas of both clinical and public health importance: (1) the full mutation phenotype, (2) developmental trajectories across the life span, (3) available interventions and treatments, and (4) impact on the family. A total of 661 articles were examined and 203 were included in the review. RESULTS The information is presented in the following categories: developmental profile (cognition, language, functional skills, and transition to adulthood), social-emotional profile (cooccurring psychiatric conditions and behavior problems), medical profile (physical features, seizures, sleep, health problems, and physiologic features), treatment and interventions (educational/behavioral, allied health services, and pharmacologic), and impact on the family (family environment and financial impact). Research gaps also are presented. CONCLUSIONS The identification and treatment of FXS remains an important public health and clinical concern. The information presented in this article provides a more robust understanding of FXS and the impact of this complex condition for pediatricians. Despite a wealth of information about the condition, much work remains to fully support affected individuals and their families.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

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Public Health Literature Review of Fragile X Syndrome

2017

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“…FXS is a frequent monogenic cause of ASD 74,[76][77][78] and the behavioral overlap between autism and FXS patients suggests overlapping neuronal network mechanisms that increase susceptibility to ASD. The regulatory function of CYFIP1 in the context of FMRP-and WAVE-containing complexes and subsequent actin remodeling may explain the convergence of these two neurodevelopmental disorders.…”

Section: Accepted Manuscriptmentioning

confidence: 99%

Dendritic spine actin cytoskeleton in autism spectrum disorder

Joensuu¹,

Lanoue

Hotulainen

2018

Progress in Neuro-Psychopharmacology and Biological Psychiatry

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“…Research from the neuropsychological field has led the way in demonstrating not only that ADHD symptomatology is present in some children with ID, but that at the cognitive level there are disorder-specific profiles of attention functioning that differ across developmental disorders, for example, fragile X syndrome (Cornish, Cole, Longhi, Karmiloff-Smith, & Scerif, 2013;Turk, 2011), Down syndrome (Breckenridge et al, 2013;Cornish, Steele, Monteiro, KarmiloffSmth,& Scerif, 2012); Williams syndrome (Breckenridge et al, 2013;Rhodes et al, 2011); and autism spectrum disorder (Christ et al, 2011;Witwer & Lecavalier, 2010). Further, recent parent surveys suggest that ADHD symptomatology in these groups is at least as common as that reported in children with ADHD with no intellectual impairment (Neece et al, 2011).…”

mentioning

confidence: 99%

Development of a New Attention Rating Scale for Children With Intellectual Disability: The Scale of Attention in Intellectual Disability (SAID)

Freeman¹,

Gray²,

Taffe³

et al. 2015

American Journal on Intellectual and Developmental Disabilities

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Difficulties with attention, impulsivity, and hyperactivity are thought to be as common among children with intellectual disability (ID) as they are in children without ID. Despite this, there is a lack of scales to specifically assess ADHD symptomatology in children and adolescents with ID. This article describes the development and evaluation of a teacher-completed measure; the Scale of Attention in Intellectual Disability (SAID). A community survey of 176 teachers of children 5-13 years of age, with ID at all levels of impairment indicated that the T-SAID is a reliable and valid measure. Integrating this scale with neuropsychological and clinical research holds exciting promise for enhancing our understanding of the nature of attention difficulties within populations with ID.

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Fragile X syndrome

Cited by 28 publications

References 92 publications

Public Health Literature Review of Fragile X Syndrome

Public Health Literature Review of Fragile X Syndrome

Dendritic spine actin cytoskeleton in autism spectrum disorder

Development of a New Attention Rating Scale for Children With Intellectual Disability: The Scale of Attention in Intellectual Disability (SAID)

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