Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence

M Marlborough; A Welham; C Jones; S Reckless; J Moss

doi:10.1186/s11689-021-09362-5

Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence

M Marlborough, A Welham, C Jones, S Reckless, J Moss

Psychology

Research output: Contribution to journal › Review article › peer-review

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Abstract

BACKGROUND: Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear.

METHOD: A systematic literature search identified papers reporting ASD prevalence and/or symptomatology in females with FXS.

RESULTS AND CONCLUSION: Meta-analysis suggested that rates of ASD for females with FXS are reliably higher than for females in the general population (a random effects model estimated weighted average prevalence at 14%, 95% CI 13-18%). Whilst papers highlighted a number of social and repetitive difficulties for females with FXS, characteristic profiles of impairment are not clear. Possible associations between ASD traits and IQ, and between ASD and levels of fragile X mental retardation protein, are suggested, but data are equivocal.

Original language	English
Article number	28
Journal	Journal of Neurodevelopmental Disorders
Volume	13
Issue number	1
DOIs	https://doi.org/10.1186/s11689-021-09362-5
Publication status	Published - 23 Jul 2021

Bibliographical note

Keywords

Autism Spectrum Disorder/complications
Female
Fragile X Syndrome/complications
Humans
Male
Prevalence

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Cite this

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abstract = "BACKGROUND: Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear.METHOD: A systematic literature search identified papers reporting ASD prevalence and/or symptomatology in females with FXS.RESULTS AND CONCLUSION: Meta-analysis suggested that rates of ASD for females with FXS are reliably higher than for females in the general population (a random effects model estimated weighted average prevalence at 14%, 95% CI 13-18%). Whilst papers highlighted a number of social and repetitive difficulties for females with FXS, characteristic profiles of impairment are not clear. Possible associations between ASD traits and IQ, and between ASD and levels of fragile X mental retardation protein, are suggested, but data are equivocal.",

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T2 - a systematic review and meta-analysis of prevalence

AU - Marlborough, M

AU - Welham, A

AU - Jones, C

AU - Reckless, S

AU - Moss, J

PY - 2021/7/23

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N2 - BACKGROUND: Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear.METHOD: A systematic literature search identified papers reporting ASD prevalence and/or symptomatology in females with FXS.RESULTS AND CONCLUSION: Meta-analysis suggested that rates of ASD for females with FXS are reliably higher than for females in the general population (a random effects model estimated weighted average prevalence at 14%, 95% CI 13-18%). Whilst papers highlighted a number of social and repetitive difficulties for females with FXS, characteristic profiles of impairment are not clear. Possible associations between ASD traits and IQ, and between ASD and levels of fragile X mental retardation protein, are suggested, but data are equivocal.

AB - BACKGROUND: Whilst up to 60% of males with fragile X syndrome (FXS) meet criteria for autism spectrum disorder (ASD), the prevalence and nature of ASD in females with FXS remains unclear.METHOD: A systematic literature search identified papers reporting ASD prevalence and/or symptomatology in females with FXS.RESULTS AND CONCLUSION: Meta-analysis suggested that rates of ASD for females with FXS are reliably higher than for females in the general population (a random effects model estimated weighted average prevalence at 14%, 95% CI 13-18%). Whilst papers highlighted a number of social and repetitive difficulties for females with FXS, characteristic profiles of impairment are not clear. Possible associations between ASD traits and IQ, and between ASD and levels of fragile X mental retardation protein, are suggested, but data are equivocal.

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KW - Prevalence

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Autism spectrum disorder in females with fragile X syndrome: a systematic review and meta-analysis of prevalence

Abstract

Bibliographical note

Keywords

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