A recently published study proposed and evaluated a new autism screening checklist for the 1-year well baby check-up. I had a hard time getting my hands on the study (crazy but true–even pediatricians sometimes are boxed out of research studies), but read lots about it first in the press. I was excited about the potential for early screening. The checklist, designed to be administered by a pediatrician, intends to improve early detection and diagnosis of autism. The goal: to enable early intervention and treatment for at-risk children. It’s clear that early intervention improves autistic children’s outcome with autism spectrum disorders but the media may have provided false information and false hope. So before you expect this checklist at your baby’s next 1-year check up, let me explain what the study found, my concerns about the results, and how the checklist may become useful.
I take care in using any screening tool–any intervention can cause unnecessary harm. My main concern resides around false positives (when a test suggests there is a problem when in reality there isn’t) and the numbers from this study…
Background on Autism Screening
Since 2007, the AAP has recommended that pediatricians screen for autism formally using a parent questionnaire (usually a tool called the M-CHAT) with a follow-up discussion at 18 months and 24 months of age. Many of us were using this before 2007. I screen both at 18 and 24 months in my office routinely, but we also screen babies at each well-baby visit for development or communication challenges prior to and after those visits. Every pediatrician does this, even when you don’t notice it. We watch your baby from the minute we crack the door. A pediatrician’s exam is not just when we’re standing at the exam table with your child. How and what your child says and does while we talk is an essential part of the exam. Unfortunately, there is no perfect tool to pick up autism in infants, although some studies have found utility in even single milestones like asking if a 9 month-old baby responds to their name. Yet, no single question or single milestone can screen or identify autism.
The study in the Journal of Pediatrics outlines the use of the new proposed checklist with 137 pediatricians in San Diego.
- 137 pediatricians used the checklist to screen 10,479 1 year-olds. A total of 1,318 12 month-olds failed the screen (12.5%). But only 346 of those 1,318 children were referred to a developmental researcher to be included in the study. This left 972 children with a positive screen result from the checklist, not referred and not included in the study. Various reasons are given as to why these children were not referred–from improper scoring or pediatrician’s opinion that child didn’t need further evaluation. But the far majority of children with a positive screen weren’t referred and studied. This makes me concerned about the tool itself. Already, the group referred for follow-up may represent a different group, negating the power of the screening checklist.
- Children who failed the checklist and who were referred to the developmental group were followed by a very expert research group every 6 months until they were 3 years of age (184 enrolled and completed the intervention). At that time a final outcome of meeting criteria for autism was made or they were categorized as meeting diagnosis for language delay, developmental delay, or “false positive” screen.
- 20% of the children (of the 346) who failed the checklist at 1 year of age were ultimately diagnosed with autism spectrum disorder. 55% of the children who failed the screening test were ultimately diagnosed with language or developmental delay, and 25% were false positives–meaning their test showed concern for autism, but at age 3 they didn’t meet criteria for developmental delay or autism.
It’s the numbers that concern me. The intent of the study is fantastic: to evaluate a new checklist for autism diagnosis at age 1. But, I didn’t read a report that showcased my concern. The checklist “Found suspected autism, autism spectrum disorder, language delays, or other developmental problems about 75% of the time” reported the author.
The hype and worry we would cause in administering this screening test concerns me. False positives can cause true harm–suffering for parents and excessive worry. One in four times the checklist is administered, the checklist will be wrong. In a summary I read from WebMD, the lead researcher stated, “The price to pay for that is very tiny” when compared to intervention afforded. As a general pediatrician I disagree. Correct me here if you think I’m off.
As I’ve been thinking about this research the last few weeks, it’s the 25% false positives that continues to nag and concern me–those families that were told at that their 12 month old may have autism and who ultimately didn’t. How did those 2 years unfold? How uneasy were these parents and families made to feel? Twenty five percent false positive is extremely high for a screening exam.
How do those numbers make you feel?
However, another and more hopeful explanation exists, of course. Is it possible that some of those children who screened positive at 12 months of age avoided the challenges in communication that led to a diagnosis of autism because of the early intervention and close followup. It’s hard to know if they were a false alarm or really, a perfect result of intervention—avoidance of a diagnosis because of early intervention. This could be extraordinary, but we need to know more with follow up research and study.
As a parent and pediatrician, I not inclined to use this test without more instruction and explanation. Although the researchers report that pediatricians who used the survey evaluated the program positively and that all practices still use the screening tool today. So I may be missing something. My further hesitation resides in the numbers–that over 900 times the test was positive, the far majority of children weren’t referred. So something about pediatrician judgment and physical exam still provided additional and relevant screening. And it’s possible this is why the practicing docs like it so much. Maybe the checklist functions as a starting place.
Not An Autism Specific Screen
The lead author asserts this is not an autism specific screen although that’s what the media reported. It’s a screening for autism, language delay, developmental delay, and autism spectrum disorders. Therefore, the title of the article may be misleading. Although many media reports touted this as the new diagnostic manual for autism, this may be more widely applied as a screening checklist. Further, the researchers in this study didn’t test the specificity or sensitivity of the screening checklist. This will have to come with future research. And what to do with results? As the researchers assert, “The utility of a a screening program can only fully be realized in effective treatment options exist for test positive cases.” Many areas of the country don’t have organized specialized centers for helping support children and their family when facing a concern or diagnosis of autism.
Bottom Line: There’s No Universal Autism Screening Checklist for 1 Year-Olds. Yet.
There is no perfect and universal screening test for autism at 12 months of age, but this checklist may provide insight and hope for developing checklists and protocols for pediatricians earlier than 18 to 24 months. And more, this data may hint that intervention helped children avoid a diagnosis. Time and more study will tell.
What do you think? Would you complete the parent checklist knowing the data I shared? Am I wrong; should I be using this checklist?
Tracey says
My daughter is three and a half and had been monitored for autism from 18 months on. At 14 months she was diagnosed with a Sensory Processing Disorder and the only criteria that kept her out of being diagnosed with autism was that she looked when we pointed. She was very developmentally delayed and we received OT for her delays and she also received OT led peer groups to help her acclimate to other kids her age because he SPD prevented her from interacting with kids her age because (we perceived) that she considered them unpredictable; they may touch her, yell, run into her. She is still “different” and it is evident when she is around other kids her age but no longer exhibits so many autistic tendencies. The key for her was giving her time to figure out what *she* needed in order to feel safe. Her room is dark and cool with no clutter and a TV that she can turn on if she gets too overwhelmed. I have seen a sample of what will be presented and in my humble opinion it is too broad to present for kids so young. I think labeling kids that young with a label that is so polarizing at that age could be a dangerous thing.
Laura says
If you used the screener to scare parents, which it sounds like you wouldn’t, then it would be a problem. If you used it as an opportunity to start a dialogue about the child’s development and ways that it can be accelerated then the answer is pretty clear to me.
As a mom, I fail to see how early intervention can ever be a bad thing! This isn’t like the NT/Quad screen for a fetus that might freak you out and leave you with few options you feel really comfortable with. This is a chance for you to say, there could be some ways that we could start working to improve my child’s communication, motor, social, etc skills right now and possibly catch her up so that there are no more “red flags” in her development. If there were a chance my child were going to be diagnosed as diabetic, I would want it on my radar asap so I could monitor for symptoms and be vigilent about diet, etc. I wouldn’t want to look the other way because the screening test might be wrong. Especially when the steps I’m taking (with a potential autism or diabetes diagnosis) could only help, not hurt my child.
I’m a pretty educated mom, but even if I weren’t, I feel like an autism diagnosis doesn’t sneak up on you out of nowhere. I imagine that you had concerns all along. This could at least validate those concerns and give you opportunities to address them.
Viki says
75% of the kids had some sort of delay? That’s a pretty good screener! I think only good can come from having the pediatrician and family face a possible delay and address it. The worry, stigma, and other social concerns of the parents are worth the risk in that minority 25% case. They can take great comfort from knowing they were vigilant in helping their child. They won’t know if their intervention from the screening got their kids out of the woods.
My frustration is in how long it takes to dx and help a delayed baby. So many friend’s of mine are anxious about their pre- or minimally verbal toddler, waiting to see if they will aquire the minimum words by age 2. Help those families teach their delayed babies to talk, cope, grow even if it’s not formally a PDD. Ultimately the issue is $$ because interventions are pricey and if they ADA, schools, insurance, families have to pay.
erin says
Hmmmm….I had my son’s speech assessed (different I know) at 3 1/2. I was told that he had a comprehension disorder and a learning disability. I then spent thousands of dollars and untold grief sending him to a special preschool in order to help him. Guess what? He is 5 years old and reading and adding double digits. He has no speech problems, in fact, had minimal speech therapy in his expensive school. He grasps concepts that my 8 year old hasn’t even touched in school yet.
Interventions ARE pricey (to the tune of $500/month) and when they are not required it does make a parent wonder if all of the heartache and expense was worth it. FWIW, my son goes to a montessori kindergarten (the same place that he attended preschool) and I give them a lot of credit for his abilities. But did he ever have a learning disability? I think not.
Angie says
I appreciate your concerns about false positives, but I strongly encourage you to please, please, please listen to parents when they have concerns! I am sure that you are a wonderful pediatrician, but as the parent of a 7-year-old son who has autism, I feel so disappointed in our experience with the pediatric community. I started expressing concerns when my son was 12 months old and not yet pointing or babbling. Our pediatrician told us not to worry. I also talked to a speech pathologist around the same time, who said he was probably just focusing on motor skills. I talked with my older child’s preschool teacher who said he was just too young to worry yet. I continued to express concerns with my pediatrician at every visit and every time he told me the same story about his nephew who didn’t talk until he was 3 and now he’s fine. Even at my son’s 3 year appointment, he said he had a hunch that my son would be just fine by kindergarten. I’m his mom. I knew something wasn’t right from very early on. I knew it!!!! But, everyone tried to make me feel better and not to worry. I wish someone would have just listened to me and that we could have started intervention earlier!!! My son was ultimately diagnosed with autism at 3 years 3 months. He falls in the moderate to severe range of autism. I feel like precious time was wasted early on and it just makes me so indescribably sad. So, I agree a checklist isn’t the perfect solution. But, maybe it’s a step in the right direction. I think a mother’s intuition is far better than any checklist will ever be!
Dr_Som says
Angie thank you for sharing what I bet is just a small part of your story. I am a pediatrician and mom to an autistic 8yo boy. My experience with the medical community was mixed. I think pediatricians are trying to improve our recognition of developmental problems and our skill in getting children with delays to the correct place for intervention. I also teach pediatricians in training. Residency training programs emphasize learning how to diagnose and treat diseases in the hospital with less focus on learning behavior and development in the outpatient setting, but this is improving slowly.
Admitting that there is a problem with your child especially a mental health or developmental
issue is usually more difficult than seeking help for a medical problem because of perceived or in some cases actual stigma depending on the child’s community and family. Pediatricians are always trying to balance the needs of the child with the desires of the parents. Clearly your pediatrician provided false reassurance. Thanks to free early intervention programs, mothers in your same situation could seek a developmental evaluation from their local program without consulting a physician. Some early intervention programs depending on the state administer screens for autism, screens that are much better validated at various ages than the screen these authors describe and much more detailed and specific than the MCHAT. While I think early identification is important, the MCHAT at 18 and 24 months (less false positives at 24 months and less false positives when key items and greater number of items are missed) is probably early enough UNLESS parents have a concern. In which case the pediatrician probably should look into it or at least be VERY clear to the family about a timeline and approach to future intervention.
THANKS FOR THE POST Dr. S. Maybe a future post on interventions for delayed children?
Kathy says
Dear Previous Posters,
I think some of you are misunderstanding Dr. Swanson’s message (but I’m sure she’ll chime in herself; maybe I’m the one misunderstanding). False positives cause an enormous amount of stress for parents. If you’ve ever been pregnant and told your baby likely has down’s syndrome (remember the triple screen, or more recently the quad screen???), only to be later told “No, it was a false positive, your baby is totally fine.” This sort of information can be SOOO stressful and upsetting to some parents. This level of stress can affect a family’s quality of life, quality of interaction, and the parent-child relationship. While some of you may prefer to err on the side of caution, for some, these false positives leave irreplaceable loss of days/weeks/months where all efforts are focused on whatever disease/disorder/condition the infant/child may have.
Until we have a clear biological marker easily measured via blood or urine, physicians and parents will continue to struggle in finding balance between caution and over-diagnosing in error. And as Erin pointed out, errors in diagnosing can not only impact quality of life, but also medical expense and risk (e.g., imaging, blood work, amniocentesis, etc).
Viki says
Erin, I recall reading that the Montessori method developed out of Maria Montessori’s early practice as a pediatrician with developmentally delayed children. She was able to improve their overall development and level of function. So while a Montessori preschool isn’t a therapeutic environment, I guess I wouldn’t discount it as an environment that might work well in conjunction with therapy.
Elizabeth S says
Why don’t we get out the 1950’s baby books and look at the skills a baby is supposed to have. Anymore children are just sick. They can’t eat right, they can’t sleep, they are plagued with ear infections, conjunctivitis and reflux. I wouldn’t be surprised if the majority of babies are late on their milestones because they are too bogged down with sickness.
Natalie's advocate says
I wish every day my daughter had been diagnosed earlier than she was. She should really have been sent to a specialist at UNDER a year, as she was still unable to even pull up on furniture on her first birthday. She had a serious walking delay and horrible muscle tone, but her regular pediatrician did not refer her to a specialist until she was 18 months and still couldn’t even bear weight on her feet. At this point, she was slipping away from us more and more every day. She wouldn’t look at us, flapped all the time, made these strange, screeching sounds and it was obvious to anyone that something was clearly wrong, but I kept being told to wait it out. When she finally DID see a neurologist at 20 months, she was finally walking, and the neuro was reluctant to diagnose her with autism, even though it was very clear she should have. She also had many sleep issues and digestive issues that her regular doctor could not explain or help with. She did not receive the diagnosis until 2 1/2. She did not start special education until nearly three and it did not help her AT ALL, she only worsened over the years. By the age of five she was so hyperactive and miserable that our whole family was pushed nearly to the breaking point. I am happy to say at eight she is finally getting the proper treatment, which for her was dietary interventions (begun at 5 1/2) and the biggest thing for her was chelation therapy. She spontaneously toilet-trained three months into implementing a special diet and with antifungal therapy and probiotics and could finally sleep through the night. Chelation has been the biggest helper for her, she now can routinely follow simple instructions and understand what is said to her (couldn’t do this before); I pulled her out of school to homeschool her because they would not listen to me when I told them that she could not eat certain foods and she kept regressing and homeschooling and non-traditional therapies have been the best thing for her. I am only sorry I did not hear of them when she was a year old and first had these horrible symptoms.
Wendy Sue Swanson, MD says
Thanks for all of these helpful comments. I appreciate all of things said here, particularly trusting your instincts, your “intuition”-as mother or not–and your need to advocate even when the medical community dismisses your concern. If your concern continues after reassurance, it’s always okay to KEEP ASKING or gather additional information. I cannot say that enough.
It’s always okay to ask. Always okay to keep asking.
To clarify Viki’s comment: in truth, the “75%” pick up of some sort of delay was only in the studied group.So no, the checklist didn’t pick something up 75% of the time that we know of. Only 75% of the time in the group that was ultimately referred. The far majority of children that failed the checklist weren’t studied or referred. We don’t know how many of them ultimately had developmental challenges or autism. Over 900 children who didn’t pass the screening checklist didn’t get referred and didn’t get studied. It’s that number that makes me question the checklist most.
I believe we’ll likely get to use this or a similar checklist, it’s just not ready yet.
And Kathy is correct. My concern is in the unnecessary or misplaced worry with false positives–the harm in excess worry, the sense of vulnerability it can create, the diagnostic search for answers that could come out of a false-positive result far too often.
Families with concerns about their child’s development deserve more investigation, early intervention referral, or closer and more frequent follow up with the pediatrician. I would never dismiss a family’s worry about development/pointing/language/autism with ongoing parental concern and missed milestones, positive checklist/M-CHAT screen or not. When a family worries about autism I have the obligation to work with them to get answers until they completely understand or are reassured. I use early intervention, psychologists, developmental pediatricians, OT/PT, and speech therapists to help me do this.
The truth is we all have the same goal: early detection, clear communication, partnership with our patients/physicians, avoidance of unnecessary harm, and compassion. We want diagnosis early. At this point, I don’t think this checklist is ready, but I appreciate Laura’s comment immensely….and it has caused me to pause. No I wouldn’t use this to scare, but to alert and educate (parents *and* myself) and maybe we’ll see this earlier than I imagine.
I’m hoping we hear from the developmental pediatricians here. When I spoke with one of them, they said, “it’s not ready for prime-time” as they had similar concerns. But I will await their response here in comments or possibly on the Autism Blog, too.