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.

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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.