The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders

J Dev Behav Pediatr. 2001 Dec;22(6):409-17. doi: 10.1097/00004703-200112000-00008.


This study was designed to explore the behavioral phenotype of autism in a group of young children with fragile X syndrome (FXS). Twenty-four children with FXS, ages 21 to 48 months, were compared with two well-matched groups: 27 children with autism (AD) and 23 children with other developmental delays (DD), on two standardized autism instruments, as well as on measures of development and adaptive behavior. Two FXS subgroups emerged. One subgroup (n = 16) did not meet study criteria for autism. Their profiles on the autism instruments and the developmental instruments were virtually identical to the other DD group. The other FXS subgroup (n = 8, or 33% of the total FXS group) met study criteria for autism. Their profiles on the autism instruments were virtually identical to the group with autism. The finding of two FXS subgroups raises a hypothesis of additional genetic influences in the FXS autism group, warranting further genetic studies.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Autistic Disorder / diagnosis
  • Autistic Disorder / genetics*
  • Autistic Disorder / psychology
  • Child Behavior Disorders / diagnosis
  • Child Behavior Disorders / genetics*
  • Child Behavior Disorders / psychology
  • Child, Preschool
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics*
  • Developmental Disabilities / psychology
  • Female
  • Fragile X Syndrome / diagnosis
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / psychology
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Infant
  • Longitudinal Studies
  • Male
  • Neuropsychological Tests
  • Personality Assessment
  • Phenotype*
  • Psychiatric Status Rating Scales