The psychological profile of the fragile X syndrome

Jacobs, Joshua; Kleczkowska, A; Berghe, Herman Van den

doi:10.1111/j.1399-0004.1984.tb00474.x

Cited by 108 publications

(31 citation statements)

References 2 publications

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“…For example, in their sample of 14 males with FXS (chronological (CA) range: 3 – 27 years), Bregman, Leckman, and Ort (1988) found that all participants demonstrated significant inattention and hyperactivity and 13/14 participants demonstrated clinically significant impulsivity problems. Fryns, Jacobs, Kleczkowska, and van den Berghe (1984) reported similar findings for a sample of 21 males between 2 and 21 years of age, describing “hyperkinetic behavior with restlessness, overactivity, agitation and poor, superficial attention (Fryns et al, 1984, pg. 133)” as the most salient behavioral characteristics of their sample.…”

Section: Introductionmentioning

confidence: 66%

Psychiatric symptoms in boys with fragile X syndrome: A comparison with nonsyndromic autism spectrum disorder

Thurman

McDuffie

Hagerman

et al. 2014

Research in Developmental Disabilities

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In the present study, we examined the profile of psychiatric symptoms in boys with fragile X syndrome (FXS) using a parent report instrument. In addition, by comparing boys with FXS to boys with nonsyndromic autism spectrum disorder (ASD) utilizing multiple matching strategies, we examined between-group differences in the types of psychiatric symptoms observed and in the strength of their concurrent associations. Across all matching strategies, symptoms of manic/hyperactive behaviors and general anxiety were more frequently reported for boys with FXS than for boys with nonsyndromic ASD. Results also indicated a positive association between social avoidance and general anxiety in FXS that was stronger than that observed in nonsyndromic ASD across all matching strategies. Theoretical and treatment implications are discussed.

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Section: Introductionmentioning

confidence: 66%

Psychiatric symptoms in boys with fragile X syndrome: A comparison with nonsyndromic autism spectrum disorder

Thurman

McDuffie

Hagerman

et al. 2014

Research in Developmental Disabilities

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“…Moderate to severe delays have been reported in all aspects of language development including expressive and receptive vocabulary, syntax, and pragmatics (Fryns, Jacobs, Kleczkowska, & Van den Berghe, 1984;Newell, Sanborn, & Hagerman, 1983;Roberts et al, 2001;Sudhalter, Scarborough, & Cohen, 1991). In addition to language delays, speech intelligibility in conversation is often poor (Paul, Cohen, Breg, Watson, & Herman, 1984;Spinelli, Rocha, Giacheti, & Richieri-Costa, 1995).…”

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confidence: 99%

Communication in Young Children With Fragile X Syndrome: A Qualitative Study of Mothers' Perspectives

Brady

Skinner

Roberts

et al. 2006

Am J Speech Lang Pathol

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Purpose: To provide descriptive and qualitative information about communication in young children with fragile X syndrome (FXS) and about how families react to and accommodate communication differences in their children. Method: In-depth interviews were conducted with 55 mothers of young children with FXS. Interviewers asked mothers to describe their children's communication, strategies they used to help promote their children's communication, communication-related frustrations, their expectations for their children, and the roles that they perceive for themselves. Results: Over half the children were nonverbal and learning to communicate with augmentative and alternative communication. Mothers reported using strategies that were developmentally appropriate and recommended by early childhood experts, such as reading and talking to their children. Many mothers identified challenges faced in helping their child to communicate, and some cited difficulty obtaining speechlanguage services as a challenge. Mothers identified their roles as caregiver, teacher, therapist, and advocate. Conclusions: The perspectives offered by mothers are valuable because they indicate how children with FXS communicate in natural contexts. Information about mothers' expectations and roles may help clinicians to be sensitive to variables that will affect working with young children and their families.

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“…The X chromosome-linked disorder is caused by loss of function of a single gene, fragile X mental retardation 1 (FMR1), most frequently by expansion of CGG repeats (>200 repeats) in the 5Ј regulatory region causing hypermethylation that results in transcriptional silencing (Heitz et al, 1992;Oberle et al, 1991;Pieretti et al, 1991). In addition to mental impairment, FXS patients also display a wide range of social interaction problems characterized by poor eye contact, hyperactivity, attention deficit and obsessive-compulsive behaviors (Boccia and Roberts, 2000;Cornish et al, 2001;Fryns et al, 1984;Torrioli et al, 2008), and hypersensitivity to sensory stimuli (Fryns, 1984;Hessl et al, 2001). Other physical anomalies include elongated face, prominent ears and enlarged male testes (Chudley and Hagerman, 1987;Giangreco et al, 1996;Moore et al, 1982).…”

Section: Introductionmentioning

confidence: 99%

Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P

Coffee

Tessier

Woodruff

et al. 2010

Disease Models &Amp; Mechanisms

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SUMMARYFragile X syndrome (FXS), resulting solely from the loss of function of the human fragile X mental retardation 1 (hFMR1) gene, is the most common heritable cause of mental retardation and autism disorders, with syndromic defects also in non-neuronal tissues. In addition, the human genome encodes two closely related hFMR1 paralogs: hFXR1 and hFXR2. The Drosophila genome, by contrast, encodes a single dFMR1 gene with close sequence homology to all three human genes. Drosophila that lack the dFMR1 gene (dfmr1 null mutants) recapitulate FXS-associated molecular, cellular and behavioral phenotypes, suggesting that FMR1 function has been conserved, albeit with specific functions possibly sub-served by the expanded human gene family. To test evolutionary conservation, we used tissue-targeted transgenic expression of all three human genes in the Drosophila disease model to investigate function at (1) molecular, (2) neuronal and (3) non-neuronal levels. In neurons, dfmr1 null mutants exhibit elevated protein levels that alter the central brain and neuromuscular junction (NMJ) synaptic architecture, including an increase in synapse area, branching and bouton numbers. Importantly, hFMR1 can, comparably to dFMR1, fully rescue both the molecular and cellular defects in neurons, whereas hFXR1 and hFXR2 provide absolutely no rescue. For non-neuronal requirements, we assayed male fecundity and testes function. dfmr1 null mutants are effectively sterile owing to disruption of the 9+2 microtubule organization in the sperm tail. Importantly, all three human genes fully and equally rescue mutant fecundity and spermatogenesis defects. These results indicate that FMR1 gene function is evolutionarily conserved in neural mechanisms and cannot be compensated by either FXR1 or FXR2, but that all three proteins can substitute for each other in non-neuronal requirements. We conclude that FMR1 has a neural-specific function that is distinct from its paralogs, and that the unique FMR1 function is responsible for regulating neuronal protein expression and synaptic connectivity.Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P

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The psychological profile of the fragile X syndrome

Cited by 108 publications

References 2 publications

Psychiatric symptoms in boys with fragile X syndrome: A comparison with nonsyndromic autism spectrum disorder

Psychiatric symptoms in boys with fragile X syndrome: A comparison with nonsyndromic autism spectrum disorder

Communication in Young Children With Fragile X Syndrome: A Qualitative Study of Mothers' Perspectives

Fragile X mental retardation protein has a unique, evolutionarily conserved neuronal function not shared with FXR1P or FXR2P

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