Autistic Spectrum Disorder and the fragile X premutation

Beth L. Goodlin-Jones; Flora Tassone; Louise W. Gane; Randi J Hagerman

doi:10.1097/00004703-200412000-00002

Autistic Spectrum Disorder and the fragile X premutation

Beth L. Goodlin-Jones, Flora Tassone, Louise W. Gane, Randi J Hagerman

Research output: Contribution to journal › Article › peer-review

107 Scopus citations

Abstract

Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.

Original language	English (US)
Pages (from-to)	392-398
Number of pages	7
Journal	Journal of Developmental and Behavioral Pediatrics
Volume	25
Issue number	6
DOIs	https://doi.org/10.1097/00004703-200412000-00002
State	Published - Dec 2004

Keywords

Autism
Fragile X syndrome
Premutation

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Behavioral Neuroscience
Psychology(all)
Developmental and Educational Psychology

Access to Document

10.1097/00004703-200412000-00002

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abstract = "Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.",

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AU - Gane, Louise W.

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