Brief report: Aggression and stereotypic behavior in males with fragile X syndrome - Moderating secondary genes in a "single gene" disorder

David R Hessl, Flora Tassone, Lisa Cordeiro, Kami Koldewyn, Carolyn McCormick, Cherie Green, Jacob Wegelin, Jennifer Yuhas, Randi J Hagerman

Research output: Contribution to journalArticle

69 Citations (Scopus)

Abstract

Although fragile X syndrome (FXS) is a single gene disorder with a well-described phenotype, it is not known why some individuals develop more significant maladaptive behaviors such as aggression or autistic symptoms. Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8-24 years. Mothers and fathers of participants reported the frequency and severity of aggressive/destructive, self-injurious, and stereotypic behaviors. Polymorphism genotypes were unrelated to age and IQ. Results showed a significant effect of 5-HTTLPR genotype on aggressive/destructive and stereotypic behavior; males with FXS who were homozygous for the high-transcribing long (L/L) genotype had the most aggressive and destructive behavior, and individuals homozygous for the short (S/S) genotype had the least aggression. Those with the L/L genotype also had the highest levels of stereotypic behavior. There was no effect of MAOA-VNTR on behavior; however those with the high-activity, 4-repeat genotype were more likely to be taking SSRI or SNRI medication. This preliminary study prompts consideration of secondary genes that may modify behavioral phenotype expression in neurodevelopmental disorders, even those with a single gene etiology such as FXS.

Original languageEnglish (US)
Pages (from-to)184-189
Number of pages6
JournalJournal of Autism and Developmental Disorders
Volume38
Issue number1
DOIs
StatePublished - Jan 2008

Fingerprint

Fragile X Syndrome
Aggression
Genotype
Genes
Phenotype
Self-Injurious Behavior
Serotonin Plasma Membrane Transport Proteins
Monoamine Oxidase
Fathers
Mothers

Keywords

  • 5-HTTLPR, MAOA
  • FMR1 gene
  • Monoamine oxidase A
  • Polymorphism
  • Self-injurious behavior
  • Serotonin transporter

ASJC Scopus subject areas

  • Psychology(all)
  • Developmental and Educational Psychology

Cite this

Brief report : Aggression and stereotypic behavior in males with fragile X syndrome - Moderating secondary genes in a "single gene" disorder. / Hessl, David R; Tassone, Flora; Cordeiro, Lisa; Koldewyn, Kami; McCormick, Carolyn; Green, Cherie; Wegelin, Jacob; Yuhas, Jennifer; Hagerman, Randi J.

In: Journal of Autism and Developmental Disorders, Vol. 38, No. 1, 01.2008, p. 184-189.

Research output: Contribution to journalArticle

@article{da1cf52e5abe4569b9c691b56e64ddaa,
title = "Brief report: Aggression and stereotypic behavior in males with fragile X syndrome - Moderating secondary genes in a {"}single gene{"} disorder",
abstract = "Although fragile X syndrome (FXS) is a single gene disorder with a well-described phenotype, it is not known why some individuals develop more significant maladaptive behaviors such as aggression or autistic symptoms. Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8-24 years. Mothers and fathers of participants reported the frequency and severity of aggressive/destructive, self-injurious, and stereotypic behaviors. Polymorphism genotypes were unrelated to age and IQ. Results showed a significant effect of 5-HTTLPR genotype on aggressive/destructive and stereotypic behavior; males with FXS who were homozygous for the high-transcribing long (L/L) genotype had the most aggressive and destructive behavior, and individuals homozygous for the short (S/S) genotype had the least aggression. Those with the L/L genotype also had the highest levels of stereotypic behavior. There was no effect of MAOA-VNTR on behavior; however those with the high-activity, 4-repeat genotype were more likely to be taking SSRI or SNRI medication. This preliminary study prompts consideration of secondary genes that may modify behavioral phenotype expression in neurodevelopmental disorders, even those with a single gene etiology such as FXS.",
keywords = "5-HTTLPR, MAOA, FMR1 gene, Monoamine oxidase A, Polymorphism, Self-injurious behavior, Serotonin transporter",
author = "Hessl, {David R} and Flora Tassone and Lisa Cordeiro and Kami Koldewyn and Carolyn McCormick and Cherie Green and Jacob Wegelin and Jennifer Yuhas and Hagerman, {Randi J}",
year = "2008",
month = "1",
doi = "10.1007/s10803-007-0365-5",
language = "English (US)",
volume = "38",
pages = "184--189",
journal = "Journal of Autism and Developmental Disorders",
issn = "0162-3257",
publisher = "Springer New York",
number = "1",

}

TY - JOUR

T1 - Brief report

T2 - Aggression and stereotypic behavior in males with fragile X syndrome - Moderating secondary genes in a "single gene" disorder

AU - Hessl, David R

AU - Tassone, Flora

AU - Cordeiro, Lisa

AU - Koldewyn, Kami

AU - McCormick, Carolyn

AU - Green, Cherie

AU - Wegelin, Jacob

AU - Yuhas, Jennifer

AU - Hagerman, Randi J

PY - 2008/1

Y1 - 2008/1

N2 - Although fragile X syndrome (FXS) is a single gene disorder with a well-described phenotype, it is not known why some individuals develop more significant maladaptive behaviors such as aggression or autistic symptoms. Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8-24 years. Mothers and fathers of participants reported the frequency and severity of aggressive/destructive, self-injurious, and stereotypic behaviors. Polymorphism genotypes were unrelated to age and IQ. Results showed a significant effect of 5-HTTLPR genotype on aggressive/destructive and stereotypic behavior; males with FXS who were homozygous for the high-transcribing long (L/L) genotype had the most aggressive and destructive behavior, and individuals homozygous for the short (S/S) genotype had the least aggression. Those with the L/L genotype also had the highest levels of stereotypic behavior. There was no effect of MAOA-VNTR on behavior; however those with the high-activity, 4-repeat genotype were more likely to be taking SSRI or SNRI medication. This preliminary study prompts consideration of secondary genes that may modify behavioral phenotype expression in neurodevelopmental disorders, even those with a single gene etiology such as FXS.

AB - Although fragile X syndrome (FXS) is a single gene disorder with a well-described phenotype, it is not known why some individuals develop more significant maladaptive behaviors such as aggression or autistic symptoms. Here, we studied two candidate genes known to affect mood and aggression, the serotonin transporter (5-HTTLPR) and monoamine oxidase A (MAOA-VNTR) polymorphisms, in 50 males with FXS ages 8-24 years. Mothers and fathers of participants reported the frequency and severity of aggressive/destructive, self-injurious, and stereotypic behaviors. Polymorphism genotypes were unrelated to age and IQ. Results showed a significant effect of 5-HTTLPR genotype on aggressive/destructive and stereotypic behavior; males with FXS who were homozygous for the high-transcribing long (L/L) genotype had the most aggressive and destructive behavior, and individuals homozygous for the short (S/S) genotype had the least aggression. Those with the L/L genotype also had the highest levels of stereotypic behavior. There was no effect of MAOA-VNTR on behavior; however those with the high-activity, 4-repeat genotype were more likely to be taking SSRI or SNRI medication. This preliminary study prompts consideration of secondary genes that may modify behavioral phenotype expression in neurodevelopmental disorders, even those with a single gene etiology such as FXS.

KW - 5-HTTLPR, MAOA

KW - FMR1 gene

KW - Monoamine oxidase A

KW - Polymorphism

KW - Self-injurious behavior

KW - Serotonin transporter

UR - http://www.scopus.com/inward/record.url?scp=37849047416&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=37849047416&partnerID=8YFLogxK

U2 - 10.1007/s10803-007-0365-5

DO - 10.1007/s10803-007-0365-5

M3 - Article

C2 - 17340199

AN - SCOPUS:37849047416

VL - 38

SP - 184

EP - 189

JO - Journal of Autism and Developmental Disorders

JF - Journal of Autism and Developmental Disorders

SN - 0162-3257

IS - 1

ER -