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Prepulse inhibition in fragile X syndrome: Feasibility, reliability, and implications for treatment
Author(s) -
Hessl David,
BerryKravis Elizabeth,
Cordeiro Lisa,
Yuhas Jennifer,
Ornitz Edward M.,
Campbell Aaron,
Chruscinski Elizabeth,
Hervey Crystal,
Long James M.,
Hagerman Randi J.
Publication year - 2008
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30858
Subject(s) - prepulse inhibition , fragile x syndrome , reliability (semiconductor) , reliability engineering , fragile x , psychology , computer science , medicine , physics , psychiatry , engineering , biology , schizophrenia (object oriented programming) , genetics , thermodynamics , power (physics) , gene
Pharmacological rescue of behavioral, cognitive and synaptic abnormalities in the animal models of fragile X syndrome (FXS) has prompted the initiation of clinical trials of targeted treatments in humans with this condition. Objective, well‐validated outcome measures that are reflective of FXS deficits and can be modeled similarly in animal and human studies are urgently needed. A protocol measuring prepulse inhibition (PPI) of the startle reflex, including measures of test–retest stability, was evaluated in 61 individuals with the fragile X full mutation (40 males and 21 females; 19.18 ± 7.18 years) and 63 age‐matched normal controls (35 males and 28 females; 20.83 ± 6.96 years) across two laboratory sites with identical equipment and protocols. Relative to controls, the fragile X group had PPI impairment of 26%, 22%, and 28% for 60, 120, and 240 ms prepulse interval trial types, respectively, P = 0.2. PPI test–retest reliability in 29 of the participants was excellent for the 120 ms prepulse interval trials (intraclass correlations: FXS, 0.85; controls, 0.88, 0.89 overall). This study demonstrates the feasibility and reliability of PPI measurement in a developmentally disabled population and highlights its potential as an outcome measure to test the efficacy of targeted neurotherapeutic agents. © 2008 Wiley‐Liss, Inc.