Brad having a conversation.

Stability of PDD-NOS, Part II: Analysis

Peer-reviewed, published research indicates that children diagnosed with autism spectrum disorder at an early age can later go on to lose the diagnosis. For example, this study reported that 19% moved off the spectrum. The abstract lists three possible reasons for such movement:

1) True improvement based on maturation,
2) Intervention, or
3) Over-diagnosis at age 2.

The merits of these reasons is the source of much debate. In this regard, let's examine the public remarks of Professor Camarata, the controversial doctor whose research provides support to Einstein Syndrome author Thomas Sowell and shock jock Michael Savage. In a published article, he states:

The broader question is how one can tell if a child has mental retardation, autism or other pervasive developmental disorder, or language disorder-or will simply "grow out" of the problem. [Emphasis mine.]

Camarata doesn't appear to allow for the possibility that an individual can have a pervasive developmental disorder and grow out of the diagnosis. He phrases it as an either/or proposition.

But when we consider these studies in the aggregate, is it even plausible to source all of this movement off the spectrum to "over-diagnosis at age 2" or misdiagnosis. After all, each of these children were formally diagnosed (probably videotaped), and the results of the research were peer-reviewed. Is it even plausible that the researchers conducting the studies were guilty of sloppy diagnostics?

This blogger believes that the first reason - true improvement based on maturation - is the likely source of movement off the spectrum. I believe that the subjects legitimately met the DSM-IV criteria for PDD-NOS at age 2, and later grew out of the diagnosis. This belief is corroberated by the research, as well as my anecdotal experience.

Edited 09/24/2009

Stability of PDD-NOS, Part I: The Research

What follows are a series of abstracts concerning the stability of autism spectrum disorder (ASD) diagnosis, including PDD-NOS. [Emphasis throughout is mine.] Each study concludes that certain children diagnosed with ASD at an early age can later lose the diagnosis.

***

Diagnostic Stability in Very Young Children with Autism Spectrum Disorders.
1: J Autism Dev Disord. 2007 Oct 9; [Epub ahead of print]

Autism Spectrum Disorders (ASD) diagnosis in very young children may be delayed due to doubts about validity. In this study, 77 children received a diagnostic and developmental evaluation between 16 and 35 months and also between 42 and 82 months. Diagnoses based on clinical judgment, Childhood Autism Rating Scale, and the Autism Diagnostic Observation Schedule were stable over time. Diagnoses made using the Autism Diagnostic Interview were slightly less stable. According to clinical judgment, 15 children (19%) moved off the autism spectrum by the second evaluation; none moved onto the spectrum. Results indicate diagnostic stability at acceptable levels for diagnoses made at age 2. Movement off the spectrum may reflect true improvement based on maturation, intervention, or over-diagnosis at age 2.

Variability in outcome for children with an ASD diagnosis at age 2.
1: J Child Psychol Psychiatry. 2007 Aug;48(8):79

BACKGROUND: Few studies have examined the variability in outcomes of children diagnosed with autism spectrum disorder (ASD) at age 2. Research is needed to understand the children whose symptoms - or diagnoses - change over time. The objectives of this study were to examine the behavioral and diagnostic outcomes of a carefully defined sample of 2-year-old children with ASD, and to identify child and environmental factors that contribute to variability in outcomes at age 4. METHODS: Forty-eight children diagnosed with autism or pervasive developmental disorder not otherwise specified (PDDNOS) at age 2 were followed to age 4. Diagnostic measures included the Autism Diagnostic Observation Schedule - Generic (ADOS-G) and clinical diagnosis at ages 2 and 4, and the ADI-R at age 4. RESULTS: Diagnostic stability for an ASD diagnosis (autism or PDD-NOS) was 63%, and for an autism diagnosis was 68%. Children who failed to meet diagnostic criteria for ASD at follow-up were more likely to: 1) be 30 months or younger at initial evaluation; 2) have milder symptoms of autism, particularly in the social domain; and 3) have higher cognitive scores at age 2. No differences between children with stable and unstable diagnoses were found for amount of intervention services received. Among the children with unstable diagnoses, all but one continued to have developmental disorders, most commonly in the area of language.

CONCLUSIONS: The stability of ASD was lower in the present study than has been reported previously, a finding largely attributable to children who were diagnosed at 30 months or younger. Implications for clinical practice are discussed.

Predictors of Optimal Outcome in Toddlers Diagnosed with Autism Spectrum Disorders Journal
Journal of Autism and Developmental Disorders

Received: 30 October 2006 Accepted: 14 November 2006 Published online: 6 January 2007

Abstract A diagnosis of autism spectrum disorder (ASD) is usually taken to be permanent. In this study, 13 two-year-old children with ASD lost the diagnosis by age 4, at which time they scored within the normal range on standardized measures of cognitive and adaptive functioning. No differences were found in symptom severity, socialization, or communication between children who lost the ASD diagnosis and children who did not, but children with PDD-NOS were significantly more likely than those with full autistic disorder to move off the spectrum. The clearest distinguishing factor was motor skills at age 2. Results support the idea that some toddlers with ASD can lose their diagnosis and suggest that this is difficult to predict.

And now back to our regularly scheduled programming.

I call this one "it's a blue-ie!"

Second Opinion: Lessons Learned

When a child is flagged for autism, the parents' reaction usually falls under one of two categories:

1) "I always knew something was wrong." These parents are panicked and want a diagnosis ASAP.

2) "What????" These parents are caught totally off guard. They just want to know if their child is actually autistic, a seemingly modest goal.

This post is for parents in the second category. If you just want to know if your child is autistic, learn from my research and my mistakes:

a) Don't accept the opinion of an administrator, early intervention or any semi-professional.

b) Seek out a developmental pediatrician. If you live in the sticks, and there are none near you, fly or drive to your closest metropolis.

c) If you get an appointment with a developmental pediatrician, by all means, make sure it's for a FORMAL EVALUATION. Brad's first evaluation was informal; it lasted one hour and did not involve a formal test, e.g. ADOS or CARS. I got the appointment without a wait; literally, she saw Brad the first business day after I called her office. His second opinion, which I blogged about here, was the real deal, and left me feeling confident in the diagnosis. A formal evaluation may take months to obtain, but it's worth the wait.

Feel free to share your stories below, and leave additional tips for parents seeking an evaluation.

Second Opinion: The Narrative

A Little Bit Autistic is feeling a little bit less autistic today.

On Friday, Brad was evaluated for a second opinion on his PDD-NOS diagnosis. Bottom line: still PDD-NOS, but the prognosis and plan for treatment are significantly changed.

Brad's evaluation lasted three hours. The developmental pediatrician is conducting a study relating to autistic spectrum disorders, the observation for which would be concurrent with Brad's evaluation. (I consented to the study in advance.) She administered two tests: Mullens and ADOS. In lay terms, Mullens is intended to measure Brad developmentally, but is not an "autism test" per se. ADOS is a standard test used to evaluate autism.

Thirty minutes into Mullens, the doctor offered an unsolicited remark: "I don't think this is PDD."

My jaw dropped. I was stunned. I didn't press her for clarification. I just sat in stunned silence.

During the ADOS test, Brad did well, but demonstrated PDD traits, e.g. mild aloofness and repetitive speech.

When all was said and done, the doctor told me that Brad has PDD, but just barely. One might even say he has the much-derided "checklist PDD" that we discussed in this thread, i.e. he meets the diagnostic criteria but perhaps lacks the essence of PDD. She told me that she won't include Brad in her study out of concern that he will "mess up the data." She added that his prognosis is good. It's extremely unlikely that PDD will be part of Brad's life long-term.

She added a novel observation: his fine motor skills and coordination are lagging for his age. She gave him two new diagnoses: hypotonia and lack of coordination. This was not entirely surprising, since Brad is in occupational therapy and his therapist had informed me of these issues. I just figured that they were part and parcel of PDD. The doctor seemed to indicate that his fine motor and coordination deficits go beyond the norm. FYI: Brad never missed a motor milestone when he was an infant. And to clarify, he eats fine with a spoon, and can thread a bead, so it's not like he's obviously or severely impaired.

Because of the motor/coordination issues, we're going to explore two possible neurological causes:

1) Mitochondrial disorder. This is best known as the metabolic disorder suffered by Hannah Poling, the subject of a controversial and highly-publicized government settlement. Brad is going to have a series of blood and urine tests. If anything comes up positive, then we get a referral for another doc.

2) Jaundice. Brad developed jaundice a few days after he was born. I don't know the levels, but it required him to undergo phototherapy, i.e. the "billi-lights". Apparently, severe jaundice can cause brain damage. However, I doubt there will be a connection because I believe Brad's billliruben was never dangerously high.

As for treatment, the doctor was very happy with the present composition of services. Her only recommendation was to add physical therapy to the roster to address the low muscle tone (hypotonia).

On biomedical treatments, Part II.

Five more reasons I don't dabble with alternative treatments:

1) Profiteering;

2) No proof of effectiveness for autism;

3) Some of the treatments (e.g. chelation) are predicated on the theory that vaccines cause autism, which theory is unsupported;

4) Some of the treatments haven't been proven safe (see, e.g. hyperbaric oxygen chambers and "oxidative stress relief"); and

5) The morbidity rate.

Part of the problem, of course, is that these treatments aren't regulated and are not prescribed and administered by mainstream physicians, hence the "alternative" label. If one of the treatments described in this post were actually proven effective (by hard science, not subjective testimonials) and move over to the mainstream, only then would I consider them for Brad.

On biomedical treatments, Part I

As you might have guessed, I don't put a lot of stock in alternative biomedical interventions. After all, I haven't even fully accepted that Brad is autistic - why would I give Brad unproven treatments to recover him from a disorder I'm not even certain he has? And even if he has autism, and he never grows out of it, I'm not sure I want to make Brad less autistic or "recover" him, even if the alternative interventions were effective (a huge leap in logic).

And on that note, summarized below are three mainstream studies of alternative biomedical interventions. To my knowledge, these studies were just announced, and have yet to be conducted.

The "autism diet" (gluten free/casein free) [via AutismVox]:

For the double-blind study, funded in its initial phase by supplemental funds granted by the Department of Pediatrics, researchers will enroll 38 autistic children ages 3 to 9. They will look at the influence of gluten and milk proteins in the intestinal function. Gluten is a protein in wheat; casein and whey are proteins in milk. Casomorphin, a peptide in milk; and gliadomorphin, a peptide in gluten, are thought to be related to changes in behavior in these children. Children will be taken off gluten and dairy products before the four-week study and then half will be given gluten/milk powder and half will be given a placebo powder.

Researchers will study intestinal permeability (leaky gut) through urine collection and behavior through psychometric testing.

Fish oil (supplement) [via AutismSpeaks]:

Fatty acids are essential for the development and function of the brain. Evidence suggests that deficiencies in fatty acids may be related to a range of neurodevelopmental disabilities, including autism. Omega-3 fatty acid supplements have been widely marketed as a “treatment” for autism, but have not undergone controlled studies to rigorously evaluate their usefulness in treating the symptoms of autism.

This study will carry out a double blind placebo controlled trial to determine the efficacy of omega-3 fatty acid supplementation in treating symptoms of autism. Participants in the trial will be children diagnosed with autism, randomly assigned to treatment and placebo groups. The treatment will involve 12 weeks of daily omega-3 fatty acid supplementation. Behavioral outcomes will be assessed by parents, teachers, and blinded clinicians to examine changes in mood and behavior following supplementation.

This research will help support or disprove the usefulness of omega-3 fatty acids in the treatment of autism, and allow us to better understand the mechanisms by which fatty acids may exert their effects.

B-12 (injection) [via AutismSpeaks]:

Double-blind placebo controlled trial of subcutaneous methyl B12 on behavioral and metabolic measures in children with autism

Studies have shown that many children with autism exhibit signs of oxidative stress, which causes cellular damage by the presence of highly reactive free radicals. Antioxidants may protect against the damaging effects of oxidative stress, and low antioxidant levels have been observed in children with autism. Nutritional supplementation by injections of the antioxidant methyl B12 is a current alternative medicine treatment for children with autism which has anecdotal reports of clinical improvements. However, the efficacy of methyl B12 to treat symptoms of autism and reduce oxidative stress has not been tested in controlled clinical trials.

This study will carry out an 8 week, double blind, placebo controlled clinical trial in 50 autistic children aged 3 to 8 years. Researchers will evaluate the subjects' behavioral responses to methyl B12 treatment. Additionally, they will monitor the blood levels of antioxidant metabolites, to determine whether methyl B12 treatment can reverse the signs of oxidative stress observed in autism.

This study will help determine whether methyl B12 is an effective treatment for core features of autism, and may identify novel diagnostic markers for treatment responses in autistic subjects.

I'm skeptical of each of the treatments listed above. Nevertheless, like a good autism mama, I'll keep my ear to the ground. The more information, the better. What to do with that information is a whole different story.

Motormouth of nonsense.

Sometimes Brad likes to say a word or a phrase, just because he likes the sound of it. He'll say it over and over again, laughing hysterically all the while. A sampling, in high rotation this week:

"Eat golfballs"

"Massachusetts"

"Pink lemonade"

"Dirty diaper"

Dog days of summer.

This video illustrates Brad's latest challenge.

"One in 150 is one too many"

So reads the slogan for Talk About Curing Autism ("TACA").

Autistic persons take offense at this slogan, justifiably so. I submit, for TACA's consideration, a new slogan:

"TACA: We Make Stuff Up"

See, TACA states on its website:

One in every 150 children born in the U.S. have been diagnosed with autism.(NOTE: This number does NOT include: PDD, Aspergers and other spectrum disorders. These statistics are endorsed by the CDC, American Academy of Pediatrics, and other federal organizations.)

The CDC, by contrast, indicates:

CDC’s Autism and Developmental Disabilities Monitoring (ADDM) Network released data in 2007 that found about 1 in 150 8-year-old children in multiple areas of the United States had an ASD.... ASDs include autistic disorder, pervasive developmental disorder - not otherwise specified (PDD-NOS, including atypical autism), and Asperger syndrome.

Hat tip to Darwin. Accepting nominations - if you have one, submit your own alternative slogan in comments below.

Update

Bam! Overnight Brad developed a stutter. A significant stutter. So on top of being speech-delayed and scripting, now Brad's got a stutter to overcome.

I have no idea if it's temporary or permanent, or typical or related to autism.

To be continued...