Co-Occurrence of Behavioral, Psychiatric, and Medical Issues In Families Ascertained for Autism and Language Learning Impairment

Background:  

Converging evidence suggests that in a number of families, relatives of individuals with autism exhibit behavioral, medical, and/or psychiatric characteristics that are milder but qualitatively similar to the defining features of autism. Furthermore, research suggests that these conditions occur more frequently in families where there is an individual diagnosed with autism when compared to control families. An approach to phenotypic characterization in these families includes exploring family members who exhibit elevated scores on ratings of (1) language deficits, (2) rigid personality traits/social aloofness, and (3) medical and psychiatric inventories, yet, do not meet any of the criteria for autism. Over the past seven years, The New Jersey Language and Autism Genetics Study (NJLAGS) has studied families ascertained through (at least) one proband with autism and a second proband with a significant language learning impairment, while each family member has also been directly assessed for measures from the three domains addressed above with the goal of identifying phenotypes and behavioral biomarkers related to language and other conditions associated with autism.  

Objectives:  

In this presentation we examine the rates and co-occurrence of related behavioral, psychiatric, and medical conditions in family members ascertained due to the presence of an autism proband and a second proband with a significant language learning impairment. 

Methods:  

Potential Autism probands are diagnosed using the Autism Diagnostic Interview- Revised, the Autism Diagnostic Observation Schedule, and a comprehensive medical examine including the DSM-IV.  Potential language-learning impaired probands are diagnosed by a licensed Speech-Language Pathologist.  Once it is determined that there are two probands, the nuclear and extended family complete a comprehensive neuropsychological battery of standardized and experimental measures and questionnaires delineating language deficits, social and behavioral traits, as well as psychiatric, and medical comorbities.  Additionally, each individual contributed a DNA sample for genetic analyses. 

Results:  

Since families were preselected for having at least one family member with a history of language learning problems, the rates of language, reading, and spelling are significantly higher than what would be expected in the general population. One-third of the families in our sample have at least one other family member, independent of the autism proband and language learning impaired proband, with a language-based learning disability. The rates of several other behavioral and psychiatric disorders (i.e. obsessive compulsive disorder, social impairment) were greater in family members (including and excluding the autism probands) than rates of these disorders in the general population. Certain medical conditions such as gastrointestinal problems and allergies were reported at higher rates based on family history questionnaire data.  Moreover, there were a number of non-spectrum family members who exhibit more than one behavioral, psychiatric, or medical condition.

Conclusions:  

Ongoing results from our study suggest that in families who were collected for a history of autism and language disorders, there is a greater risk for other behavioral, psychiatric, and medical disorders in comparison to the general population. These findings support the theory of a broader view of autism in families and the notion of a greater genetic risk for certain disorders.