The Influence of Environmental and Genetic Factors on Behavior Problems and Autistic Symptoms in Boys and Girls With Fragile X Syndrome
Abstract
Objective.: Fragile X syndrome, caused by mutations in a single gene of the X chromosome (FMR1), is associated with neurobehavioral characteristics including social deficits with peers, social withdrawal, gaze aversion, inattention, hyperactivity, anxiety, depression, and autistic behavior. However, there is considerable variability in the behavioral and psychiatric problems among children with this condition. The purpose of this study was to measure genetic and environmental factors influencing behavior problems and autistic symptoms in children with fragile X syndrome. Design.: We conducted an in-home evaluation of 120 children (80 boys and 40 girls) with the fragile X full mutation and their unaffected siblings, including measurements of the FMR1 protein (FMRP), quality of the home environment, maternal and paternal psychopathology, effectiveness of educational and therapeutic services, and child behavior problems. Results.: Results of multiple regression analyses showed that for boys with fragile X, effectiveness of educational and therapeutic services and parental psychological problems predicted internalizing and externalizing types of problems, while the quality of the home environment predicted autistic behavior. For girls with fragile X, the results emphasized significant effects of FMRP on behavior, in particular social withdrawal and anxious/depressed behavior. Conclusions.: These findings are among the first to link FMRP expression to behavior. They also emphasize the significance of home- and school-based environmental variables in the neurobehavioral phenotype and help to lay the foundation for studies designed to identify specific interventions for reducing problem behavior in children with fragile X syndrome.
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Cognitive and behavioral therapies combined with educational stimuli are beneficial for developing self-care and social and adaptive behaviors in patients with FXS.
“cognitive and behavioral therapies in patients, together with educational stimuli, have been beneficial in facilitating the development of self-care and social and adaptive behaviors”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [135]
These therapies enhance the quality of family life.
“all of which greatly enhance the quality of family life within the given contexts (131-135).”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [135]
The Fragile X syndrome population has susceptibility to ASD, ADHD, anxiety disorders, and neurological disorders such as epilepsy.
“This population also has susceptibility to certain other neuropsychiatric disabilities including ASD, ADHD, anxiety disorders, and neurological disorders such as epilepsy (Hessl et al., 2001; Pretorius et al., 1998).”
From Oxytocin and vasopressin systems in genetic syndromes and neurodevelopmental disorders (2014) · cites this paper as Hessl et al., 2001
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- Authors
- Hessl, D., Dyer-Friedman, J., Glaser, B., Wisbeck, J., Barajas, R. G., Taylor, A., & Reiss, A. L.
- Affiliations
- Stanford Medicine (US)
- Temple University (US)
- From the Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, California;
- Stanford University (US)
- Venue
- Pediatrics
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 2001-11-01
- Volume
- 108
- Issue
- 5
- Pages
- e88-e88
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- OpenAlex
- W2004115092
- Cited by
- 201
- References
- 36
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 5 · 2023: 6 · 2022: 10 · 2021: 8 · 2020: 9 · 2019: 11 · 2018: 7 · 2017: 8 · 2016: 12 · 2015: 7 · 2014: 16 · 2013: 4 · 2012: 11
- FWCI
- 2.73
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- PEDIATRICS (publishedVersion)
- PubMed (publishedVersion)
- Funders
- David and Lucile Packard Foundation
- National Fragile X 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 › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- fragile X syndrome, FMR1 gene, autistic behavior, behavioral problems, internalizing problems, externalizing problems, home environment quality, parental psychopathology, social withdrawal, anxiety and depression, sex differences, children
- MeSH terms
- Adolescent, Analysis of Variance, Autistic Disorder, Mental Disorders, Child, Depressive Disorder, Family, Female, Fragile X Syndrome, Humans, Income, Intelligence, Male, Nerve Tissue Proteins, Regression Analysis, Sex Factors, Social Environment, RNA-Binding Proteins, Fragile X Messenger Ribonucleoprotein 1
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