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Cited by 115Genetics and Neurodevelopmental DisordersStress Responses and CortisolAutism Spectrum Disorder Research

Cortisol and behavior in fragile X syndrome

Hessl, D, Glaser, B, Dyer-Friedman, J, Blasey, C, Hastie, T, Gunnar, M, Reiss, A.L·2002·Psychoneuroendocrinology
DOI 10.1016/s0306-4530(01)00087-7
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Abstract

Objective The purpose of this study was to determine if children with fragile X syndrome, who typically demonstrate a neurobehavioral phenotype that includes social anxiety, withdrawal, and hyper-arousal, have increased levels of cortisol, a hormone associated with stress. The relevance of adrenocortical activity to the fragile X phenotype also was examined.Method One hundred and nine children with the fragile X full mutation (70 males and 39 females) and their unaffected siblings (51 males and 58 females) completed an in-home evaluation including a cognitive assessment and a structured social challenge task. Multiple samples of salivary cortisol were collected throughout the evaluation day and on two typical non-school days. Measures of the fragile X mental retardation (FMR1) gene, child intelligence, the quality of the home environment, parental psychopathology, and the effectiveness of educational and therapeutic services also were collected. Linear mixed-effects analyses were used to examine differences in cortisol associated with the fragile X diagnosis and gender (fixed effects) and to estimate individual subject and familial variation (random effects) in cortisol hormone levels. Hierarchical multiple regression analyses were conducted to determine whether adrenocortical activity is associated with behavior problems after controlling for significant genetic and environmental factors.Results Results showed that children with fragile X, especially males, had higher levels of salivary cortisol on typical days and during the evaluation. Highly significant family effects on salivary cortisol were detected, consistent with previous work documenting genetic and environmental influences on adrenocortical activity. Increased cortisol was significantly associated with behavior problems in boys and girls with fragile X but not in their unaffected siblings.Conclusions These results provide evidence that the function of the hypothalamic-pituitary-adrenal axis may have an independent association with behavioral problems in children with fragile X syndrome.

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  • Children with fragile X syndrome, especially males, had higher levels of salivary cortisol compared to their non-fragile X siblings.

    “we reported that children with FXS, especially males, had higher levels of salivary cortisol compared to their non-FXS siblings.”

    From Effects of intranasal oxytocin on social anxiety in males with fragile X syndrome (2012) · cites this paper as Hessl et al., 2002

  • Increased cortisol was significantly associated with behavior problems in boys and girls with fragile X syndrome but not in their unaffected siblings.

    “Increased cortisol was significantly associated with behavior problems in boys and girls with FXS but not in their unaffected siblings (Hessl et al., 2002).”

    From Effects of intranasal oxytocin on social anxiety in males with fragile X syndrome (2012) · cites this paper as Hessl et al., 2002

  • Sample collection and handling procedures were developed in consultation with the fourth author to minimize the potential impact of contaminants, and confounding dietary and physiological factors on the assessment.

    “All sample collection and handling procedures were developed in consultation with the fourth author (KJP) to minimize the potential impact of contaminants, and confounding dietary and physiological factors on the assessment (Hessl et al., 2002).”

    From Effects of intranasal oxytocin on social anxiety in males with fragile X syndrome (2012) · cites this paper as Hessl et al., 2002

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Authors
Hessl, D., Glaser, B., Dyer-Friedman, J., Blasey, C., Hastie, T., Gunnar, M., & Reiss, A. L.
Affiliations
  • Stanford Medicine (US)
  • Stanford University (US)
  • University of Minnesota (US)
Corresponding author
Reiss, A.L
ORCID
Venue
Psychoneuroendocrinology
Publisher
Elsevier BV
Published
2002-10
Volume
27
Issue
7
Pages
855-872
ISSN
0306-4530 (ISSN-L)
DOI
10.1016/s0306-4530(01)00087-7
OpenAlex
W2164784263
Cited by
115
References
43
Citations by year
2026: 1 · 2024: 2 · 2023: 5 · 2022: 2 · 2021: 4 · 2020: 2 · 2019: 2 · 2018: 3 · 2017: 3 · 2016: 4 · 2015: 2 · 2014: 5 · 2013: 7 · 2012: 3
FWCI
2.48
Type
journal article
Language
en
Open access
closed
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations
  • Psychoneuroendocrinology (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • David and Lucile Packard Foundation
  • National Institutes of Health
  • National Institute of Mental Health (MHO1142, MH-50047, K02MH001142, R01MH050047)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Neuroscience › Behavioral Neuroscience › Stress Responses and Cortisol
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords
fragile X syndrome, salivary cortisol, hypothalamic-pituitary-adrenal axis, adrenocortical function, behavioral problems, social anxiety, hyperarousal, FMR1 gene, family impact, children, gender differences
MeSH terms
Adolescent, Adrenal Cortex, Child, Cognition, Education, Female, Fragile X Syndrome, Humans, Hydrocortisone, Individuality, Intelligence, Male, Nerve Tissue Proteins, Parents, Phenotype, Saliva, Sex Characteristics, Social Environment, Stress, Psychological, RNA-Binding Proteins, Fragile X Mental Retardation Protein, Fragile X Messenger Ribonucleoprotein 1

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