MOTIVATION Identification of disease-related genes using high-throughput microarray data is more difficult for complex diseases as compared with monogenic ones. We hypothesized that an endophenotype derived from transcriptional data is associated with a set of genes corresponding to a pathway cluster. We assumed that a complex disease is associated with multiple endophenotypes and can be induce...

PURPOSE: The present study examined associations of 5 endophenotypes (i.e., measurable skills that are closely associated with speech sound disorders and are useful in detecting genetic influences on speech sound production), oral motor skills, phonological memory, phonological awareness, vocabulary, and speeded naming, with 3 clinical criteria for classifying speech sound disorders: severity o...

The genetics of schizophrenia has been approached utilizing a variety of methods. One emerging strategy is the use of endophenotypes in order to understand and identify the functional importance of genetically transmitted, brain-based deficits across schizophrenia kindreds. The endophenotype strategy is a topic of this issue of Schizophrenia Bulletin. Endophenotypes are quantitative, heritable,...

Autism spectrum disorder (ASD) patients commonly exhibit a variety of comorbid traits including seizures, anxiety, aggressive behavior, gastrointestinal problems, motor deficits, abnormal sensory processing, and sleep disturbances for which the cause is unknown. These features impact negatively on daily life and can exaggerate the effects of the core diagnostic traits (social communication defi...

Autism and schizophrenia are neurodevelopmental disorders which both have highly disabling negative and cognitive symptoms with few effective treatments. A challenge to developing effective therapeutics is a dearth of pre-clinical models. Part of the difficulty in developing predictive models is that the symptoms being treated are complex, and difficult to reduce to a simple behavioral task. Th...

To determine the specificity of suggested endophenotypes of pediatric bipolar disorder (PBD), the performance of 15 euthymic children with PBD was contrasted with that of 20 children with attention-deficit/hyperactivity disorder (ADHD), a population with reportedly similar executive dysfunction, and 18 children with both PBD and ADHD. Children with PBD and PBD+ADHD (ages 8 to 17) demonstrated h...