Individuals living with intellectual disability can have multiple co-occurring medical conditions including associated genetic diagnoses. The number of genetic etiologies associated with ID is growing, with some quite new and rare, and others more common and associated with what is often considered a syndrome. In the context of genetic etiologies…

Introduction of the National Institute of Mental Health's Research Domain Criteria and revision of diagnostic classification for Autism Spectrum Disorder in the latest diagnostic manual call for a new way of conceptualizing heterogeneous ASD features. We propose a novel conceptualization of ASD, borrowing from the schizophrenia literature in…

Social-emotional behavior in autism spectrum disorder (ASD) was examined among high-risk (HR; siblings of children diagnosed with ASD) and low-risk (LR; no family history of ASD) toddlers. Caregivers completed the Infant-Toddler Social Emotional Assessment (ITSEA) at 18 months, and blind diagnostic assessment for ASD was conducted at 36 months.…

The Study to Explore Early Development (SEED) is a multi-site case-control study designed to explore the relationship between autism spectrum disorder (ASD) phenotypes and etiologies. The goals of this paper are to (1) describe the SEED algorithm that uses the Autism Diagnostic Interview-Revised (ADI-R) and Autism Diagnostic Observation Schedule…

Delayed appearance of early language milestones can be one of the first signs of a developmental disorder. In this study, we investigated how well late acquisition of language milestones predicted an outcome of specific language impairment (SLI). The sample included 150 children (76 SLI), aged 4 to 7 years old. Milestone information was collected…

The phenotypic heterogeneity of adults suspected of autism spectrum disorder (ASD) requires a standardized diagnostic approach that is feasible in all clinical settings. The autism mental status exam (AMSE) is an eight-item observational assessment that structures the observation and documentation of social, communicative and behavioral signs and…

Background: The nosology of autism spectrum disorders (ASD) is at a critical point in history as the field seeks to better define dimensions of social-communication deficits and restricted/repetitive behaviors on an individual level for both clinical and neurobiological purposes. These different dimensions also suggest an increasing need for…

In the United States, research directed specifically at improving our understanding of the psychiatric assessment and treatment of individuals with intellectual disabilities (ID) has grown, yet lags far behind efforts for typically developing children and adults. In the United States, a lack of a national approach to the mental health problems of…

Autism, which is common in individuals with fragile X syndrome, is often difficult to diagnose. We compared the diagnostic classifications of two measures for autism diagnosis, the ADOS and the ADI-R, in addition to the DSM-IV-TR in 63 males with this syndrome. Overall, 30% of the subjects met criteria for autistic disorder and 30% met criteria…

The inherent imprecision of behavioral phenotyping is the single most important factor contributing to the failure to discover the biological factors that are involved in psychiatric and neurodevelopmental disorders (e.g., Bearden & Freimer, 2006). In this review article we argue that in addition to an appreciation of the inherent complexity at…

Purpose: To propose that the diagnostic category of "expressive language disorder" as distinct from a disorder of both expressive and receptive language might not be accurate. Method: Evidence that casts doubt on a pure form of this disorder is reviewed from several sources, including the literature on genetic findings, theories of language…

This report describes three extensions to a classification system for paediatric speech sound disorders termed the Speech Disorders Classification System (SDCS). Part I describes a classification extension to the SDCS to differentiate motor speech disorders from speech delay and to differentiate among three sub-types of motor speech disorders.…

The prevalence of epilepsy was correlated with the severity and type of encephalopathy of 1,023 individuals with mental retardation. A total of 326 individuals were diagnosed with epilepsy. Results indicated a low percentage of epilepsy in chromosomic-genetic and young adult encephalopathies and a high prevalence when the neurodeficit was…

Research prospects and priorities in autism are discussed with respect to: (1) diagnosis, classification, and epidemiology; (2) clinical research; (3) neuropsychological research; (4) genetics; (5) structural and functional brain imaging; (6) postmortem studies; (7) other biological research; and (8) treatment research. Application of research…

Research in the field of developmental disabilities has found direct links between severity of a personality trait or psychopathology and particular pathology of the deoxyribonucleic acid (DNA). From studies of behavior phenotypes, new psychiatric disorders are being recognized, such as Williams syndrome. The formulation of valid behavior…