Early Behavior Signs of Psychiatric Phenotypes in Fragile X Syndrome

Abstract

Whether preschool males with fragile X syndrome can be distinguished from those with idiopathic developmental delay in the four problem behavior areas associated with the fragile X phenotypes was examined. Males with fragile X (n = 41) and age- and IQ-matched controls (n = 16) were rated by their mothers on the Dimensions of Temperament Scale-Revised, the Child Behavior Checklist, and the Aberrant Behavior Checklist--Community. The fragile X group showed deficits in motor skills, increased initial avoidance, decreased social withdrawal, deficits in attention, increased hyperactivity, and positive mood. They were distinguished from controls on all of these variables except hyperactivity and attention. When maternal characteristics were controlled for, the fragile X group showed a significantly higher level of generalized activity level than did controls.

Psychiatric symptoms in boys with fragile X syndrome: A comparison with nonsyndromic autism spectrum disorder

“…The children with FXS in Turk’s study earned higher maternal ratings of restlessness and hyperactivity, as measured by the Children’s Behavior Checklist (CBCL; Achenbach & Edelbrock, 1983), than did the children with DS or children with developmental delay. Not all studies have been able to replicate this finding (e.g., Einfeld, Hall, & Levy; 1991; Kau et al, 2000); however, there are several possible explanations for the discrepant findings across studies including the CA of the participants as well as the measures used to assess hyperactivity.…”

“…This expansion typically leads to the reduction or absence of FMRP, the protein normally produced by the FMR1 gene, which is essential for synaptic plasticity and experience-dependent learning (Bassall & Warren, 2008). In addition to cognitive impairments, a variety of behavioral difficulties have a high comorbidity with FXS, especially in males, including hyperactivity and attentional difficulties (e.g., Baumgardner, Reiss, Freund, & Abrams, 1995; Cornish, Scerif, & Karmiloff-Smith, 2007; Scerif, Longhi, Cole, Karmiloff-Smith, & Cornish, 2012; Turk, 1998;) and anxiety and withdrawal (e.g., Bregman, Leckman, & Ort, 1988; Cordeiro, Ballinger, Hagerman, & Hessl, 2011; Kau, Reider, Payne, Meyer, & Fruend, 2000). Moreover, the vast majority of males with FXS are likely to display some behaviors that are characteristically observed in individuals with nonsyndromic autism spectrum disorder (ASD), that is, individuals with ASD for whom there is no known etiology (Bailey et al, 2004; Baumgardner et al, 1995; Hartley et al, 2011).…”

Language Skills of Males with Fragile X Syndrome or Nonsyndromic Autism Spectrum Disorder

“…Many aspects of the FXS phenotype can negatively affect language, such as intellectual disability and behavioral challenges (e.g., Cornish et al 2007; Cordeiro et al 2011; Kau et al 2000; Harris et al 2008; Hessl et al 2009; Scerif et al 2012). Not surprisingly, language difficulties, relative to chronological age and/or nonverbal cognitive ability, are common in males with FXS (Abbeduto et al 2007).…”

Autism spectrum disorder in Fragile X syndrome: Differential contribution of adaptive socialization and social withdrawal

“…Nonetheless, severity and profile of these autistic behaviors enable a differentiation between individuals with FraX who meet Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV) [APA, 1994] criteria for autism spectrum disorder (ASD) and those who do not . The importance of precisely delineating the profile of boys with FraX þ Autism or FraX þ ASD is underscored by the fact that these diagnoses are relatively stable over time [Sabaratnam et al, 2003] and that children with FraX þ ASD display other severe cognitive and behavioral abnormalities [Kau et al, 2000;Bailey et al, 2000Bailey et al, , 2001aHatton et al, 2002Hatton et al, , 2003Sabaratnam et al, 2003;Roberts et al, 2005a].…”