What Is Broad Autism Phenotype?

Examining the broad autism phenotype may provide clues about the traits and genetics underlying autism.

How Broad Autism Phenotype May Show Up

Language and communication challenges:

• Challenges in understanding and using language appropriately in social contexts
• A possible preference for solitary activities and limited verbal communication
• Rigid communication patterns, such as difficulty adapting language to different social situations

Social communication difficulties:

• Limited eye contact and facial expressiveness
• Tendency to avoid or withdraw from social interactions
• Difficulty interpreting social cues like body language, gestures, and tone of voice
• Problems understanding social norms
• Challenges in forming and maintaining relationships or participating in group activities

Emotional regulation and personality traits:

• Difficulties regulating emotions, such as challenges in managing stress, and sensitive emotional reactivity
• Personality traits characterized by anxiety (which may appear as "aloofness") and preferences for routine and sameness that interfere with social connections
• An increased risk of depression, anxiety disorders, and mood disorders

Cognitive and executive function differences:

• Enhanced perceptual functioning, such as superior visual search abilities and performance on tasks measuring visuospatial ability
• Difficulties with executive functioning, including challenges in attentional flexibility, planning, and spatial working memory
• A strong preference for repetitive behavior and motor problems
• Narrow, fixed interests
  

How Is Broad Autism Phenotype Diagnosed?

Broader autism phenotype is not an official diagnosis as defined by the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), so a person cannot be diagnosed with BAP.

Autism itself is a developmental condition affecting the brain and nerves (neurodevelopmental condition), not a mental disorder.

However, people with characteristic autism traits can find out whether they have BAP, autism, or possibly a different condition. Start by consulting with your primary care provider or your child's pediatrician to eliminate the possibility that your traits are related to a medical condition.

Depending on your traits, you may be referred for a complete autism evaluation to determine whether you have autism. This may involve input from a multidisciplinary team of healthcare professionals specializing in autism.

In addition to analyzing your developmental history and behavior, it typically includes the use of professional screening and diagnostic tools. The following assessments may be administered by a clinician when evaluating an adult for BAP:

• The Family History Interview (FHI)-Impression of Interviewee (IOI): A combination of an informant interview, self-report, and impression of the interviewee on social/communicative deficits and other autism-related behaviors.
• Broader Phenotype Autism Symptom Scale (BPASS): A parent or caregiver interview of a school-aged child by a trained professional, plus direct observation by a clinician on social motivation, social expressiveness, communication, and flexibility traits.
• Social Responsiveness Scale-Adult (SRS-A): A 65-item questionnaire completed by a friend, spouse, or relative on behalf of a subject regarding the subject's social awareness, social cognition, social communication, social motivation, and autistic mannerisms
• Modified Personality Assessment Schedule: A trained professional conducted a semi-structured interview and an informant's report on autism characteristics, which included the extent to which the subject appeared anxious (which may appear as being "aloof"), hypersensitive, overly conscientious, rigid, and lacking tact.

You can bypass this formal evaluation process by screening yourself. While this approach is not intended to replace a professional evaluation, the following self-administered tests can measure BAP:

• Broader Autism Phenotype Questionnaire (BAPQ): A 36-item questionnaire in which participants address their traits related to rigid personality, anxious (which may appear as being "aloof") personality, and pragmatic language problems
• Autism Spectrum Quotient (AQ): A 50-item questionnaire that assesses social skills, attention switching, attention to detail, communication, and imagination
  

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How Is Broad Autism Phenotype Managed?

Since BAP traits manifest differently in individuals, there is no uniform approach to therapies. By definition, BAP consists of traits that do not meet the criteria for a clinical diagnosis or generally warrant clinical concern.

The need for therapy varies from person to person and depends on their unique characteristics. However, when traits interfere with daily life, they may demonstrate the presence of autism rather than BAP.

A person with BAP may benefit from improving minor challenges in social and communication skills to make their daily social and work situations easier. In addition, parents with BAP who struggle to advocate on behalf of their children with autism may benefit from targeted therapies that enhance necessary communication skills.

Depending on individual traits and goals, a person with BAP may benefit from one or more of the following types of interventions:

• Social skills training to help navigate conversations and different social skills
• Communication skills to learn ways to express their needs and interpret nonverbal communication
• Environmental accommodations at school, work, or in the home to control stimuli that might trigger reactions (e.g., noise, lights, etc.)
• Mental health counseling to address conditions like anxiety or depression
• Speech therapy to address challenges with articulation, language comprehension, or pragmatic skills