What is the Broader Autism Phenotype (BAP)?

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In this blog we discuss what Broader Autism Phenotype is.

We will also briefly touch upon what traits are related to BAP, the implications of the BAP research, and also what autism is. 

What is the Broader Autism Phenotype (BAP)?

Broader autism Phenotype refers to observable characteristics of individuals who tend to exhibit various characteristics related to their personality, their language skills and function, and their social skills and function similar to that of autism however not diagnosable as autism. 

The concept of the broader autism phenotype can be traced back to a 1943 paper by Leo Kanner who noticed that the parents, grandparents, and other relatives of children with autism spectrum disorder were also exhibiting psychological characteristics similar to ASD without the diagnosis of ASD.  (Gerdts & Bernier, 2011)

Research since has found that there seems to be a milder phenotype that has been consistently observed in individuals  who are relatives to individuals who have autism spectrum disorder.

This phenotype appears to have characteristic features related to the domains of social, communication, and restricted interest or behaviours as seen in individuals with autism spectrum disorder.

Researchers of this field push forward the idea that differences or variations of social skills including communication skills, and various personality traits are considered when we discuss the Broader autism phenotype. 

Most researchers study parents of children with ASD who show variations in terms of cognition abilities and biology as compared to parents without children with ASD. 

However, these differences, though significant, do not warrant any clinical concern because it does not cause enough functional impairment in their lives to justify a clinical diagnosis which makes BAP a non-diagnosable phenomenon. (Gerdts & Bernier, 2011)

When it comes to prevalence of the broader autism phenotype, it is observed more in males than females in most of the clinical research and statistics recovered so far however, this cannot be generalised.

What are the traits that suggest BAP?

The traits that usually associated with broader autism phenotype according to research include:

Social skills related traits where individuals with Broader autism phenotype show a decreased interest in responding to social interactions or engaging in conversations. Research and interviews of parents and siblings of individuals with autism spectrum disorder seemed to observe  less interest in social interactions.

Another dimension is that related to personality traits where family relatives of individuals with autism spectrum disorder were observed to be more aloof and disconnected with the conversations at hand, they also seemed to have restricted expression and tend to engage in behaviours that are tactless or inappropriate to situations (Piven et al, 1994)

In this research, compared to controls, individuals with family members with ASD also seemed to be more rigid- less open to flexibility and changes and  have a hard time adapting to new routines.

It was also noted that parents and siblings with individuals who have ASD also showed differences in communication skills as compared to people who were not related to individuals with ASD. 

A study on the social language use of parents of autistic individuals found that ASD parents exhibited atypical pragmatic communication behaviours at higher rates than non-ASD parents. 

These ASD parents were observed to engage in “disinhibited social communication, marked awkward Expression, and used odd verbal  forms of interaction which were milder but similar to the social language deficits observed in autism.

What are the clinical implications of BAP?

While the Broader autism phenotype is not a diagnosable entity or disorder, it can provide an overarching insight into understanding autism spectrum disorder and it’s aetiology. 

By pushing research efforts to understand the components of the BAP that ties it to genetics, it is possible that researchers can isolate genetic traits related to autism and offer insight as to how social and communication systems break down. 

It also provides a model related to genes, neurobiology, environment, and protective factors that explain why autism related deficits are present in children with autism.

BAP also provides an avenue to understand and research how BAAP traits impact treatment planning. By understanding how familia factors impact individuals, this can become a crucial aspect of developing a treatment.

For example, if an ASD parent has BAP traits related to decreased social motivation, they might perceive their own child’s lack of social motivation differently as to another parent who does not lack social motivation related BAP traits.

While this seems to be a negligible factor, it becomes extremely important when setting out treatment goals, parental motivation, as well as the motivation of the child to bring about change. 

What is Autism?

Autism, or autism spectrum disorder (ASD), refers to a broad range of conditions that involve challenges with social skills, repetitive behaviours, speech and nonverbal communication. 

According to the Centre for Disease Control, autism affects an estimated 1 in 54 children in the United States and usually symptoms of the disorder appear at the age of 2-3 years old while some developmental delays are observed as easily as 18 months. 

Because autism is a spectrum disorder, there are not just one but many subtypes of the disorder which vary according to the variation in genetic and environmental factors.  It also has a distinct set of strengths and challenges for each person on the spectrum.

People with autism Spectrum disorder vary in the way they think, learn, and problem solves- some can be highly skilled as it is the case for people with asperger’s syndrome or severely challenged enough to be considered a disability and require intense support and care from other people while others do not. 

Several factors increase the risk of the development of autism such as genetics, environment, parental substance abuse, family history, maternal and paternal behavioural risk factors like smoking or drinking when pregnant or trying to become pregnant.

The disorder is often accompanied by sensory sensitivities and medical issues such as gastrointestinal (GI) disorders, seizures or sleep disorders, and  mental health challenges such as anxiety, depression and attention issues.Research shows that early intervention leads to positive outcomes later in life for people with autism.

What is the Diagnostic criteria of Autism?

Diagnostic Criteria for Autism Spectrum Disorder is as follows:

To meet diagnostic criteria for ASD an individual must have persistent deficits in each of three areas of social communication and interaction and at least two of four types of restricted, repetitive behaviours in different contexts.

  • Deficits in social-emotional reciprocity, failure of normal back-and-forth conversation; to reduced sharing of interests and emotions; to failure to engage in social interactions.
  • Deficits in nonverbal communicative behaviours used for social interaction, from poor verbal and nonverbal communication; deficits in understanding and use of gestures; lack of facial expressions and nonverbal communication.
  • Deficits in developing, maintaining, and understanding relationships, from difficulties adjusting behaviour to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.
  • Stereotyped or repetitive motor movements, use of objects, or speech 
  • Insistence on sameness, inflexible adherence to routines, or ritualised patterns of verbal or nonverbal behaviour (e.g., extreme distress at small changes)
  • Highly restricted, fixated interests that are abnormal in intensity or focus
  • Hyper- or hypo reactivity to sensory input or unusual interest in sensory aspects of the environment 
  • Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.

These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay.

Conclusion

In this blog we discussed what Broader Autism Phenotype is.

We also briefly touched upon what traits are related to BAP, the implications of the BAP research, and also what autism is. 

What causes autism?

Several factors increase the risk of the development of autism such as genetics, environment, parental substance abuse, family history, maternal and paternal behavioural risk factors like smoking or drinking when pregnant or trying to become pregnant.

What is meant by the broader autism phenotype?

Broader autism Phenotype refers to observable characteristics of individuals who tend to exhibit various characteristics related to their personality, their language skills and function, and their social skills and function similar to that of autism however not diagnosable as autism. 

What is a broad autism phenotype questionnaire?

The broad autism phenotype questionnaire is an assessment tool that assesses  a set of personality and language characteristics that is commonly observed in the individuals who exhibit phenotypic  of autism- usually seen in non-autistic individu ausl related to an autistic relative. 

What is the female autism phenotype?

The female autism phenotype (FAP) is a proposed phenotype that refers to behavioural characteristics observed in females that have autism.

What is High functioning autism?

High functioning autism refers to conditions where the individual, who has been diagnosed with autism, can read, write, speak, work, and go about their daily lives without much assistance and care. 

High functioning autism is not recognised as an official diagnosis. It is an unofficial term that is used to refer to individuals with autism who have significant independent skills to live. 

What is the correct term for high functioning autism?

Because the term “high functioning” is met with controversy because of the fact that it is not a diagnosis and it is also viewed as misleading and ableist- discriminates based on ability- as it assumes that individual with autism who are not high-functioning are “low-functioning” the more appropriate term can be “low-support” or Level-1 autism. 

What can I say instead of functioning labels?

You can replace the functioning labels with support labels. So instead of high functioning individuals with autism it becomes individuals with low support needs. 

What are subclinical autistic traits?

Subclinical autistic traits describe symptoms of autism that are mild and similar to those that are observed in autism spectrum disorder. However they are considered subclinical because they do not meet the clinical criteria for diagnosis. 

References

American Psychiatric Association. Diagnostic and statistical manual of mental disorders. 5th ed. Arlington, VA: American Psychiatric Association; 2013.

Gerdts, J., & Bernier, R. (2011). The broader autism phenotype and its implications on the aetiology and treatment of autism spectrum disorders. Autism research and treatment, 2011, 545901. https://doi.org/10.1155/2011/545901

Rudy.L.J. The Broad Autism Phenotype: Just a Little Bit of Autism. Verywellmind. Retrieved on 7th February 2022. https://www.verywellhealth.com/what-is-the-broad-autism-phenotype-260048

Landa, R., Piven, J., Wzorek, M., Gayle, J., Chase, G., & Folstein, S. (1992). Social language use in parents of autistic individuals. Psychological Medicine, 22(1), 245-254. doi:10.1017/S0033291700032918

Piven, J., Wzorek, M., Landa, R., Lainhart, J., Bolton, P., Chase, G., & Folstein, S. (1994). Personality characteristics of the parents of autistic individuals. Psychological Medicine, 24(3), 783-795. doi:10.1017/S0033291700027938

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