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What Does it Mean to Have Just a Hint of Autism?

Marina Sarris
Interactive Autism Network at Kennedy Krieger Institute
Date Published: 
December 11, 2014

Question mark illustration for story on Broad Autism PhenotypeComedian Jerry Seinfeld stepped into a minefield when he diagnosed himself as being on the autism spectrum – "on a very drawn out scale." Some applauded the attention he brought to autism, while others, including parents of children with severe autism, complained that he trivialized the real problems of a real disability. How can someone who achieved fame by lampooning social foibles really have anything in common with people who struggle with basic social functioning?

In an interview with NBC news, Seinfeld said he has trouble paying attention "to the right thing," "basic social engagement is really a struggle" and he finds figures of speech confusing.1 He later clarified that he doesn't have autism,2 but his remarks left one lingering question. Were these faint whispers of autism he described similar to what researchers call the Broader Autism Phenotype, or BAP?

People with the BAP have some traits common to autism spectrum disorder (ASD), but not enough to have the disorder. But it's not comedians who have drawn scientific scrutiny for having the BAP: it's the parents and siblings of people who actually have autism.

What is this autistic-like condition, and how can you measure it? Is understanding this condition important for understanding autism? Or is BAP just another example of the over-medicalization of personality traits – especially when they belong to the parents of children with autism.

The blame game begins

In the whole group, there are very few really warmhearted fathers and mothers.

Photo of man pointing to illustrate Broad Autism Phenotype storyParents, and their personalities, have been under a microscope since autism was "discovered" 70 years ago. In his groundbreaking paper, psychiatrist Leo Kanner detailed the cases of the first 11 children to be diagnosed with autism. He also described their parents and grandparents. "This much is certain, that there is a great deal of obsessiveness in the family background," he wrote in 1943.3

And he also said this: "In the whole group, there are very few really warmhearted fathers and mothers."3 Dr. Kanner still believed children with autism were born, not made, but his description of their emotionally-distant families would haunt parents for decades.

In the years that followed, psychologist Bruno Bettelheim took Dr. Kanner's observation ten steps farther. He claimed that cold, detached mothers had caused their children's autism. So was born the now discredited myth of the "refrigerator mother" who had failed to bond with her baby. That legacy of blame shadows parents even today.

Genetics and environment

Now, scientists believe genetics and environment (everything from pollution to parents' ages) may explain autism. The genetics link seems to point backward to Dr. Kanner's observation. If autism genes can be inherited, are parents of children with autism more likely to have a few autistic traits themselves? Could that be what Dr. Kanner noticed when he first described autism?

In fact, genetics is fueling the current interest in BAP. "Measuring the BAP is increasingly important in genetic studies, and is also important in describing participants in other types of research," according to a paper co-authored by autism researcher Simon Baron-Cohen.4

Professor Baron-Cohen has theorized that scientists and engineers are more likely to have autistic traits – and when they marry each other, are more likely to have children with a spectrum disorder.5

"When people with technical minds—such as engineers, scientists, computer programmers and mathematicians—marry other technical-minded individuals, or their sons and daughters do, do they pass down linked groups of genes that not only endow their progeny with useful cognitive talents but also increase their children's chances of developing autism?" he asks.6  According to his theory, tech-minded people prefer analyzing systems of things to social pursuits, a trait that could lead to autism when magnified.

The "flavors" of autism

Genes can be passed directly from parent to child, but not all genetic changes, or mutations, come from parents. Children also can have mutations that occur by chance or by virtue of some environmental influence. Parents' ages are one example of an environmental influence; children born to older parents are more likely to have genetic changes that they did not inherit from their folks.7 These mutations are de novo, a Latin expression that means new.

Researchers theorize that families who have more than one member with autism are more likely to be passing down genes for autism. If that's true, then those parents are more likely to show autistic-like characteristics than families who have only one member with autism. Scientists hope to figure out what those genes are, and how they trigger autism in their children. For example, would genes associated with rigidity or obsessiveness in parents be related to repetitive behaviors such as hand-flapping in their offspring with autism?

Some researchers believe there are different types, or flavors, of autism, and examining genetic influences can help pinpoint them.

Researcher Robin Goin-Kochel Ph.D. explained, "It's possible that one or more 'flavors' of autism is related to the broader autism phenotype in parents. In other words, parents who exhibit certain features of ASD (but who do not meet clinical criteria for ASD) may be more likely to have a child with features similar to their own that, for whatever reason, may be more pronounced in his or her generation. On the other hand, children with ASD who come from parents who do not exhibit BAP may exhibit a different 'flavor' of ASD that arises though different mechanisms."

Understanding the different types of autism, and the spectrum of traits related to autism, could lead to better and more individualized treatments, she said.

Defining the Broad Autism Phenotype

Photo of father talking on phone while children use computer to illustrate Broad Autism PhenotypeWhat exactly is the BAP and how many parents and siblings of people with autism have it? Where are the lines that separate having a few mild personality quirks from having the Broader Autism Phenotype? That separate the BAP from having autism spectrum disorder itself? (Phenotype means those traits you can see.)

Unfortunately, there are no bright lines, or easy answers. On one hand, some parents have recognized a kinship with their child with autism and sought an ASD diagnosis for themselves, according to anecdote. Milder forms of autism, such as Asperger's Syndrome, may not have been recognized by doctors or teachers when they were children. On the other hand, most studies show that at least half of the relatives of someone with autism do not have measurable impairments in their social and communication skills or behavior.8, 9

What about those relatives who fall in between? Different studies have that shown that some parents or siblings have mildly impaired language and conversational skills, planning and memory skills, or social skills and relationships. Exactly how many of these mild impairments, or traits, do they need to have the Broader Autism Phenotype? That's hard to say. For one thing, BAP is not a diagnosis. Your doctor won't find it in the psychiatric diagnosis manual. "It's a research construct" – something used by scientists to identify a personality type when they investigate autism, said Sarika U. Peters Ph.D., assistant professor of pediatrics and psychiatry at Vanderbilt University.

Different researchers have developed questionnaires to measure the BAP, but they each measure this phenomenon somewhat differently. One such tool, the Autism Spectrum Quotient 10, asks adults whether they like to collect information about categories of things and whether they find it difficult to "work out people's intentions."10 Scientists have not settled on which tool is the best to use in research.

Different questionnaires, different results

One recent study by Dr. Peters, Dr. Goin-Kochel and others illustrated the difficulty in assessing the BAP.11 The study involved the Simons Simplex Collection, which includes 1,650 families who have just one child with autism. When autism strikes a family "out of the blue," as it did in the SSC families, it's more likely that any genetic change that contributed to that child's autism was not inherited from a parent. The researchers used three different assessment tools. They found that a small percentage of the parents had the BAP, but how many parents depended on the tool used. The percentage of parents with the BAP ranged from almost none to 12 percent, depending on the test.

What explains these differences between assessment tools? It may be that each one measures a different concept of the BAP. Another explanation may be found in the way each assessment was conducted. One assessment was completed by the parent herself, another by her partner, and the third by a researcher. "Folks sometimes see themselves differently than their partners do, and often they behave differently in different contexts, which is why we felt it was important to examine BAP from these different perspectives," said Dr. Goin-Kochel.

When autism strikes more than once

Photo of family walking in the rain, for autism articleWhat about "multiplex" families who have multiple children with autism: how do their personalities compare? Several studies have found that multiplex families tend to have more conversational and social difficulties than:

  • families with one child with ASD, or
  • families with a child with a different developmental disability, or
  • families with typically-developing sons and daughters.4, 8, 9, 12

Is that because they are more likely to have genes related to autism? Or is the stress of raising multiple children with autism causing them to seem more impaired? To address that question, some researchers asked the parents about their preferences and habits before they had children, and the "multiplex" parents still showed more autistic-like traits, as a group.8, 9

However, those researchers found that one autistic-like trait – rigidity – seems to be affected by the mere fact of parenting a child with special needs. All of the parents of special needs children studied – including those who have a disability other than autism – showed more inflexibility or a narrower range of interests in two studies.8, 12 That was even true of parents of children with Down Syndrome,12 which is not inherited from parents in most cases.13 "It could be that this [rigid] personality style is most reflective of the demands of caring for a child with a disability, where adherence to routines is commonly necessary,"12 stated one of the research teams.

The autism risk for families with certain traits

Looking at it from another angle, does the presence of a certain level of autistic traits in one or both parents increase the chances of having a child with autism?

Yes, according to a research team that included psychiatrist John N. Constantino, the developer of a questionnaire for measuring autistic traits, the Social Responsiveness Scale. The risk of ASD in a child rose by 52 percent if one of his parents had a high score on the questionnaire, and by 85 percent if both parents had high scores.14

The team found higher scores in both parents of children with autism more often than would be expected by chance alone. That points to the possible role of assortative mating. That's a scientific way of saying people tend to choose partners who are like themselves, whether they are aloof or sociable. This study did not directly address whether the parents' occupations had anything to do with this. Its data happened to be drawn from a huge study of U.S. nurses, a profession popularly believed to attract caring and empathetic people.

"Geekiness" and other factors

The idea that, when it comes to mating, opposites may not really attract seems to point to Professor Baron-Cohen's "geek" (his word) theory. The British researcher theorizes that technically-minded people are marrying each other and passing along genes that, when amplified, trigger autism in their children. His research team found that schoolchildren living in an information-technology hub of the Netherlands have higher rates of ASD than children in two other Dutch towns.15 However, the researchers did not know whether those parents worked in the technology industry.

Factors other than parents' occupation or "geekiness," such as age or education level, also may account for the number of children with an ASD diagnosis in a particular area. Some of these factors are considered environmental, rather than genetic. Many studies have found that older parents are more likely to have a child with autism.7 One American study found clusters of children with autism in communities of college-educated parents.16 It's possible that better educated parents are more likely to succeed in getting an autism diagnosis and services for their child. Education levels and age may be linked: American women with more education tend to have children at an older age.17 Another possibility is that families affected by autism may be flocking to certain towns because they offer better ASD services. Professor Baron-Cohen is planning a follow-up study in the Netherlands to examine some of those types of possibilities.

Understanding the Broader Autism Phenotype may have some practical benefits for autism providers and the families they serve. Dr. Peters said it's important to focus on the family as a whole when delivering services. "Some of the more innovative interventions don't just focus on the child; they focus on parents taking care of themselves and building their sense of competence," she said. Parents who have the BAP are more likely to have anxiety, depression or unease in social situations, so interventions that target those symptoms in parents will help them be "more present" for their children, she said.

Parents may benefit from mindfulness training, for example. "Basically, mindfulness techniques teach parents to monitor their own reactions and to be aware of how they might act in a given situation before they actually act. As applied to autism, parents would be taught to develop some self-compassion and to take some breathing space and remain calm before responding to the challenging behavior of their child," she said.

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References: 
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  2. Holley, P. (2014, November 20). Scratch that, folks. Jerry Seinfeld says he's not on the spectrum after all. The Washington Post. Retrieved from: http://www.washingtonpost.com/news/post-nation/wp/2014/11/20/scratch-that-folks-jerry-seinfeld-says-hes-not-on-the-autism-spectrum-after-all/
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