Fragile X in a Survey of 75 Autistic Males

Ms, Watson; Jf, Leckman; Annex, Brian H.; Wr, Breg; Boles, D; Volkmar, Fred; Dj, Cohen; Carter, C

doi:10.1056/nejm198405313102214

Cited by 61 publications

(2 citation statements)

References 8 publications

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“…The strong association of autism with Fragile X syndrome has been confirmed in almost every large reported series 15,30,31. Mutations in the Methyl-CPG-Binding Protein 2 ( MECP2 ) gene are reported in a significant number of women with autism 20,32.…”

Section: Reported Approaches and Yieldsmentioning

confidence: 86%

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

Schaefer

Mendelsohn

2008

Genetics in Medicine

119

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The autism spectrum disorders are a collection of conditions, which have, in common, impaired socialization and communication in association with stereotypic behaviors. The reported incidence of autism spectrum disorders has increased markedly over the past decade. In addition, a large amount of attention has been paid to these conditions among lay and professional groups. These influences have resulted in a marked increase in the number of referrals to clinical geneticists for evaluation of persons with autism spectrum disorders. The primary role of the geneticist in this process is to define etiology, if possible, and to provide counseling and contribute to case management based on the results of such investigations. In deciding upon the appropriate evaluation scheme for a particular patient, the geneticist must consider a host of different factors. Such considerations would include (1) Assuring an accurate diagnosis of autism before proceeding with any investigation. (2) Discussing testing options, diagnostic yields, and patient investment before proceeding with an evaluation. (3) Communication and coordination with the patient’s medical home. (4) Assessing the continuously expanding and evolving list of available laboratory testing modalities in light of evidence-based medicine. (5) Recognizing expanded phenotypes of well-described syndromic and metabolic conditions that encompass autism spectrum disorders. (6) Defining an individualized evaluation scheme based on the unique history and clinical features of a given patient. The guidelines in this article have been developed to assist the clinician in the consideration of these factors.

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Section: Reported Approaches and Yieldsmentioning

confidence: 86%

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

Schaefer

Mendelsohn

2008

Genetics in Medicine

119

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“…It was recognized in some of the early described series of confirmed individuals with fragile X syndrome that there were higher levels of autistic traits, by way of social, communication, and sensory difficulties; than could be accounted for by level of intellectual disability alone [2][3][4][5][6][7]. In parallel, early studies in which groups with autism were screened for fragile X reported that up to 16% of autistic males had fragile X syndrome [8][9][10][11][12][13]. With autism now being more widely recognized, especially in those without an intellectual disability, these estimates are consequently lower, with fragile X syndrome accounting for approximately 0.5% of individuals with autism [14][15][16].…”

Section: Introductionmentioning

confidence: 99%

Autism in Fragile X Syndrome; A Functional MRI Study of Facial Emotion-Processing

McKechanie

Campbell

Eley

et al. 2019

Genes

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Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism spectrum disorder, and among those with fragile X syndrome, approximately 1/3rd meet a threshold for an autism spectrum disorder (ASD) diagnosis. Previous functional imaging studies of fragile X syndrome have typically focused on those with fragile X syndrome compared to either neurotypical or autism spectrum disorder control groups. Further, the majority of previous studies have tended to focus on those who are more intellectually able than is typical for fragile X syndrome. In this study, we examine the impact of autistic traits in individuals with fragile X syndrome on a paradigm looking at facial emotion processing. The study included 17 individuals with fragile X syndrome, of whom 10 met criteria for autism as measured by the Autism Diagnostic Observation Schedule (ADOS). Prior to the scan, participants rehearsed on a mock scanner to help acclimatize to the scanner environment and thus allow more severely affected individuals to participate. The task examined the blood-oxygen-level-dependent (BOLD) response to fearful and neutral faces taken from the Ekman faces series. Individuals in the autism group had a region of significantly reduced activity centered on the left superior temporal gyrus, compared to those with FXS alone, in response to the fearful faces. We suggest that autism in individuals with fragile X syndrome is associated with similar changes in the neurobiology of facial emotion processing as seen in idiopathic autism.

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Autism and Genetics

Smalley¹

1988

Arch Gen Psychiatry

310

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Fragile X in a Survey of 75 Autistic Males

Cited by 61 publications

References 8 publications

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders

Autism in Fragile X Syndrome; A Functional MRI Study of Facial Emotion-Processing

Autism and Genetics

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