Review Article

The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders

Table 2

Measures developed and utilized to assess the BAP.

Measure nameReferenceIntended populationMeasure notes

Autism-Spectrum Quotient (AQ)Baron-Cohen et al. 2001 [32]Typical adults and ASD parents(i) A brief, self-report questionnaire assessing 5 domains: social skills, communication, attention to detail, attention switching, and imagination
(ii) Differentiates high-functioning individuals with ASD from controls, males from females, and college students majoring in mathematics versus humanities
(iii) Identifies higher rates of BAP in ASD parents compared to controls
QuestionnairesBroader Autism Phenotype Questionnaire (BAPQ)Hurley et al. 2007 [33]ASD parents(i) A self- and informant-report questionnaire of social personality, rigidity, and pragmatic language deficits (intended to parallel the 3 domains of impairment in ASD)
(ii) Each question is rated on a 6-point scale, allowing a range of possible responses to maximize variability
(iii) Validation has shown high sensitivity and specificity when BAPQ scores are used to predict direct clinical observations of BAP traits
Children’s Communication Checklist, 2nd EditionBishop, 2003 [34]Children aged 4–16 years of age(i) A parent-report questionnaire assessing various communication skills with age-based scaled scores and a general communication composite
(ii) Scales include structural aspects of language, pragmatic language, and social relations and interests
(iii) Composite scores differentiate children with communication challenges (both SLI and ASD) from typically developing children [35]
(iv) ASD siblings were overrepresented in the lower range of scores compared to typically controls [22]
Social Responsiveness Scale (SRS)Constantino et al. 2000 [36]Children and adults both with and without ASD(i) An informant-report (generally parent, teacher, or spouse) questionnaire measuring autism-related traits along one continuum of social reciprocity, which purportedly reflects a single underlying vulnerability to ASD-related traits [37, 38]
(ii) Widely used in many genetic studies and researched in both clinically ascertained and population-based samples [3840]
(iii) Scores from the SRS have been linked to specific areas of the genome through QTL-based analyses [41]

(i) Assesses autism-related traits in 4 domains (social motivation, social expressivity, conversational skills, and flexibility/range of interests) via both direct clinical observation and interview

Broader Phenotype Autism Symptom Scale (BPASS) Dawson et al., 2007 [42] Children and adults both with and without ASD(ii) Adults are interviewed about themselves; parents are interviewed about their children
(iii) Ratings for items within domains range from impaired to nonimpaired, with some questions identifying those with a level above the norm (designed to increase statistical power to detect evidence for genetic effects in QTL analyses)
(iv) Two domains (social motivation and flexibility) have the positive QTL findings [43]
(i) First measure developed to directly measure autism-related traits in family members via a semistructured interview and provides categorical (not continuous) information
Interviews and Direct Behavioral ObservationFamily History Interview (FHI) or Family History Schedule (FHS)Bolton, et al., 1994 [12]; Piven et al., 1997 [16]Children and adults both with and without ASD(ii) Informant rates of social and communication skills and range of interests of immediate and extended family members
(iii) An algorithm determines whether there is a presence or absence of BAP traits in 3 domains: social, communication (primarily assessing a history of language/reading delays), and repetitive behaviors
(i) A semi-structured interview measuring ASD-related personality traits
(ii) Participants are interviewed about themselves while an informant (generally a spouse) is asked similar questions in a separate interview
Modified Personality Assessment Schedule-Revised (M-PAS-R)Piven et al., 1997 [15]; Piven et al., 1994 [13]Adults(iii) Participants are rated by trained examiners based on behavioral examples given by either the subject or the informant
(iv) Originally including 18 domains, it was later revised to focus on 8 traits particularly applicable to ASD: conscientious, rigidity, aloof, undemonstrative, anxious, hypersensitive to criticism, unresponsive, and untactful
(v) Rigidity and aloof traits have been the most valid and reliable discriminators [13, 15, 29].
(i) Intended to assess verbal and nonverbal pragmatic language via 15 minutes of conversational exchange and perhaps time spent in direct assessment of parents

Pragmatic Rating Scale (PRS)Landa et al., 1992 [10]Adults(ii) Assesses skills in maintaining a flow of conversation.
(iii) Subscales: disinhibited social communication (e.g., abrupt topic change and overly detailed descriptions), awkward/inadequate expression (e.g., vague and inadequate clarification), and odd verbal interaction (e.g., odd humor and inappropriate topics)
(iv) Successfully differentiated ASD parents from controls in many studies (e.g., [15, 17])