Tag: Genius

First Large-Scale Study of Universal Screening for Autism Raises Critical Questions about Accuracy, Equity


Researchers urge continued screening for all toddlers, while recommending changes to M-CHAT screening method to improve accuracy, address disparities


Newswise — Philadelphia, September 27, 2019 –

In the first large, real-world study of universal screening for autism spectrum disorder (ASD) in toddlers, researchers at Children’s Hospital of Philadelphia (CHOP) have found that the most widely used and researched screening tool is less accurate than shown in previous studies conducted in research laboratory settings. The new study also revealed significant disparities in detecting early autism symptoms in minority, urban and low-income children. The findings were published online today in the journal Pediatrics.

The American Academy of Pediatrics (AAP) recommends screening all toddlers for ASD at their 18- and 24-month primary care check-ups using the Modified Checklist for Autism in Toddlers with Follow-Up (M-CHAT/F), a two-stage parent survey to determine whether a child may have autism, with the follow-up designed to eliminate false positives. However, most studies to evaluate the accuracy of the M-CHAT/F have been conducted in research settings rather than in real-world clinical settings. Therefore, very little was known about screening in the recommended primary care setting, nor about longer-term outcomes for children who screened negative on the M-CHAT/F. The CHOP study is the first to look at outcomes of truly universal screening in a real-world primary care setting.


“As part of a large pediatric network implementing universal screening, we found ourselves in a unique position to find answers to critical questions about the accuracy of the M-CHAT, and to determine how many children are missed by early, universal screening,” said lead author Whitney Guthrie, PhD, a clinical psychologist specializing in early diagnosis at CHOP’s Center for Autism Research. “Early intervention has been shown to improve outcomes, potentially into adulthood. We know that early and accurate screening and diagnosis is the crucial first step in helping children access those effective, autism-specific therapies.”

The CHOP research team studied the electronic health records (EHR) of 25,999 patients screened in primary care using the M-CHAT/F between the ages of 16 and 26 months, and systematically followed these children until 4 through 8 years of age using the EHR. Ninety-one percent of these children were screened using the M-CHAT/F, meaning that nearly universal screening of all children in primary care was achieved.


The study showed that the M-CHAT/F detected only about 40% of children who went on to be diagnosed with ASD. However, children who screened positive were diagnosed seven months earlier than those who screened negative, suggesting that early screening may facilitate early intervention. Overall, 2.2% of children in the study were ultimately diagnosed with ASD, which is consistent with the Centers for Disease Control and Prevention (CDC) estimates nationally.

“Although our findings reveal significant shortcomings in current screening tools, we want to be clear that we are not recommending that pediatricians stop universal screening,” said Guthrie. “Instead, clinicians should continue to screen using the M-CHAT/F, while being aware that this screening tool does miss some children with ASD. Any clinical or parental concerns should be taken seriously, and warrant continued surveillance even if a child screens negative on the M-CHAT/F. And of course, a screen positive on the M-CHAT/F warrants referral so that children with ASD can be diagnosed and receive early intervention.



Autism Speaks


“Pediatricians should also be aware of disparities in screening practices and results in children of color and from low-income backgrounds.”

The CHOP study found that the 9% of children who did not receive screening at 18 or 24 months were disproportionately from racial minority groups; from non-English speaking households; and from households with lower median income and who receive Medicaid. When screening was administered, these same children were more likely to receive a false positive result. The M-CHAT was also less accurate in girls than in boys.

“Persistent racial and economic disparities in autism screening and diagnosis are a cause for great concern, and are consistent with previous research showing that black and Hispanic children tend to be diagnosed years later than white children,” said co-author Kate Wallis, MD, MPH, a developmental pediatrician and researcher at CHOP’s PolicyLab who is also studying disparities in referrals for autism services. “This study revealed important limitations and provides us with new knowledge that we can use to make critical improvements to autism screening tools and screening processes, so pediatricians can properly detect and support more children with autism and reduce disparities in diagnosis and care.”

Guthrie et al, “Accuracy of Autism Screening in a Large Pediatric Network.” Pediatrics, online 27 September 2019. DOI: 10.1542/peds.2019-0925.


About Children’s Hospital of Philadelphia: Children’s Hospital of Philadelphia was founded in 1855 as the nation’s first pediatric hospital. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals, and pioneering major research initiatives, Children’s Hospital has fostered many discoveries that have benefited children worldwide.  Its pediatric research program is among the largest in the country.  In addition, its unique family-centered care and public service programs have brought the 564-bed hospital recognition as a leading advocate for children and adolescents. For more information, visit http://www.chop.edu


Child Prodigies and Autism Spectrum Disorder

Stephen Camarata Ph.D.

Stephen Camarata Ph.D.

Intelligence, Genius and High Achievement Are Not “On” the Autism Spectrum

Posted Apr 01, 2016

April is autism awareness month—so autism and autism spectrum disorder (ASD) will be in the news. Although the recent redefinition of autism as a spectrum condition ensures that children whose disabilities were previously unrecognized and left untreated are better served; it is also important to be mindful of the boundaries for the autism spectrum to avoid potentially devastating mistakes. This is especially important as society seeks to identify autism spectrum disorder at earlier and earlier ages.
Because very young children have widely variable abilities and behavior patterns that are quite different from older children, key clinical markers of autism in school-age children are much less reliable for diagnosing toddlers and preschoolers. For example, a primary symptom of autism is disruptive behavior—and severe tantrums. In school-age children these behaviors are a very reliable indicator for autism. In contrast, nearly every two-year-old displays rather severe tantrums—after all it is called the terrible twos for a reason! It is absurd to place all two year olds on the autism spectrum because of tantrums. Skilled clinicians can indeed accurately diagnose autism in two-year-olds, but it is all too easy to mistake a naturally occurring tantrum as a symptom of autism spectrum disorder.
Similarly, it is all too easy to mistake the traits of precious, highly intelligent toddlers and preschoolers as symptoms of autism spectrum disorder. In their recent book “The Prodigy’s Cousin[1]” Joanne Ruthsatz and Kimberly Stephens provide engaging—and intriguing narratives describing prodigies. They also note that many of these children have siblings or other first-order relatives who are clearly on the autism spectrum, which is certainly true for mathematicians, engineers, and physicists[2].
Also, for the children described in The Prodigy’s Cousin, it was not unusual for the prodigies themselves to be initially misidentified as having autism. One potential reason for this is that a child prodigy is quite dedicated to developing the ability that captures her interest—be it music, math, art, dance or scientific thinking. Because of this, prodigies tend to practice these talents over and over again often to the exclusion of activities other children are usually engaged in. Although it may seem simple to distinguish prodigy from autism spectrum disorder, it is noteworthy that children with autism are highly “routine preferring” and often do the same things over and over again rather obsessively. And this is precisely what Ruthsatz and Stephens see in prodigies: these children are very focused on practicing and mastering a particular ability. These authors were very straightforward in stating that prodigy behavior should not be viewed as a form of autism, but it is clear that mistakes were made.
But what if the autism spectrum were actually expanded to include the kind of focused practice required to master talent often seen in child prodigies—and in highly intelligent people? What are the consequences for society if the unique talents of prodigies, geniuses, high achievers—or anyone else with asynchronous child development or an unusual learning style—were to be redefined as symptoms of an autism spectrum disorder and eliminated? There is a very real concern that identifying prodigy as a form of autism spectrum disorder would actually end up derailing the development of extraordinary ability in precocious children. To be sure, some people on the autism spectrum are highly intelligent, but being highly intelligent doesn’t necessarily mean a person is on the autism spectrum.
When autism is diagnosed, a relatively strict intervention program is often provided. One goal of this treatment is to diminish obsessive routines. If a child does indeed have autism, this intervention can be highly effective.
But what if a child does not have autism, and is a prodigy instead?  Could treatment designed for autism prevent a math prodigy from developing her unique talents when she is taught to stop “obsessing” on numbers as a cure for her “autism spectrum disorder?”

Before dismissing this notion, bear in mind that many prodigies, high achievers, and highly intelligent individuals are also notoriously noncompliant in addition to being dedicated to developing their special talents. For example, when piano virtuoso Arthur Rubinstein was a child, he smashed a violin when his parents tried to shift his “obsessive” devotion to the piano to other instruments. Would his amazing abilities as a concert pianist have been derailed if his obsession with playing the piano over and over—and his dramatic refusal to comply with requests to be less obsessive —were viewed as a symptom of autism spectrum disorder rather than natural traits of a child prodigy?
Perhaps even more worrisome are recent articles implying that geniuses (and prodigies) such as Albert Einstein, Isaac Newton,[3, 4] Mozart, Bill Gates and many others display signs of autism.  Many many geniuses were temperamental and, at times, difficult to get along with. In addition, perhaps in part because of their high intelligence, they may not necessarily be highly motivated to please teachers or parents or to complete schoolwork they find uninteresting. In his biography, Winston Churchill recalled that “My teachers saw me at once [as being] backwards and precocious, reading books beyond my years and yet at the bottom of the Form [class ranking]. They were offended. They had large resources of compulsion at their disposal, but I was stubborn. Where [whenever] my reason, imagination or interest were not engaged, I would not or could not learn.” [5]. Because there are reports that Mr. Churchill also talked late, one can not help but wonder whether his collection of precocious traits, challenging behavior, and slowed communication development would have resulted in an Autism Spectrum diagnosis in modern times.
Perhaps the most devastating consequence of misguided efforts to retrospectively view high intelligence, prodigy, and high achievement as manifestations of autism spectrum disorder is the trivializing effect this has on the extensive impact that severe “classic” autism spectrum disorder often has on families. It is cruel to suggest that parents of children with autism could have somehow shaped the pervasive developmental challenges these children display into becoming the next Mozart, Einstein, Newton, or Gates if only the “right” treatment were provided early enough. This view of autism spectrum disorder also trivializes the Herculean efforts these families make to help their child learn to speak, to be in school, and to regularly cope with severe tantrums and meltdowns.

We can all applaud the efforts to identify—and treat—autism spectrum disorders as accurately, effectively, and as early as possible. But it is also vitally important that prodigy and genius not be redefined as disabilities requiring treatment—rather than unusual gifts to be nurtured.