A mainstay in pediatric training has been the evaluation and documentation of infants with a tool known as “The Denver Developmental”. Developed 40 years ago, the test was updated in 1992, and has been used as a yardstick for ‘normal’ maturation of babies and children up to the age of five.
The assumption of this examination is that earlier diagnosis of delayed (mostly physical) development could result in earlier diagnoses and treatments for maladies such as genetic problems, syndromes of multi-factorial origin, cerebral palsy and ‘slower than normal’ progress. Problems are then referred to a geneticist, neurologist or other pediatric subspecialty for evaluation and possible intervention(s).
With the epidemic proportions that ASD has been appearing in the world’s children, it’s time to move this tool down the list of screening tools, or re-revise, or even fashion a superior diagnostic examination that better addresses the present problem. To be sure, the AAP has offered the A.L.A.R.M. guidelines, which were “…developed to establish standard practices among physicians, to simplify the screening process, and to ensure that all children receive routine and appropriate screenings and timely interventions.”
Autism is prevalent The incidence has increased dramatically since 2006, but the subtle deviations from typical are stressed.
Listen to parents Do pediatricians really need the “L” word?
Act early Rather than merely stating that doctors should recognize the ‘Red Flags’ as suggested, it might have been more useful to learn them. Maybe this should have been the “L” word.
Refer Why can’t pediatricians diagnose, begin an appropriate ‘workup’ and suggest appropriate interventions?
Monitor Follow up your patients. Good advice.
The conventional pediatric community has failed to stress that there ARE early interventions that may lower a young child’s risk of autism by recognizing early red flags and addressing them in a biomedical way. How many times have parents heard the pediatrician pontificate, “He’s a boy… late talker… a second child… she’s spoiled… you need to speak one language…”? I know these excuses, ’cause I used to employ them. And worse, “Let’s wait until three years, and we will know more.” What is the family waiting for, and what would be the harm of earlier therapies? Many moms and dads have just started S&L therapies on their own, only to see remarkable improvements in a short period of time. The pediatrician’s response? “See, I told you there would be speech!”
So, what are the present screening recommendations? Developmental surveillance should be performed at all well-child visits from infancy through school age, and at any age thereafter if concerns are raised about social acceptance, learning, or behavior.
- Recommended developmental screening tools include the Ages and Stages Questionnaire, the BRIGANCE® Screens, the Child Development Inventories, and the Parents’ Evaluations of Developmental Status.
- Because of the lack of sensitivity and specificity, the Denver-II (DDST-II) and the Revised Denver Pre-Screening Developmental Questionnaire (R-DPDQ) are not recommended for appropriate primary-care developmental surveillance.
- Further developmental evaluation is required whenever a child fails to meet any of the following milestones: babbling by 12 months; gesturing (e.g., pointing, waving bye-bye) by 12 months; single words by 16 months; two-word spontaneous (not just echolalic) phrases by 24 months; loss of any language or social skills at any age.
- Siblings of children with autism should be monitored carefully for acquisition of social, communication, and play skills, and the occurrence of maladaptive behaviors. Screening should be performed not only for autism-related symptoms but also for language delays, learning difficulties, social problems, and anxiety or depressive symptoms.
- For all children failing routine developmental surveillance procedures, screening specifically for autism should be performed using one of the validated instruments.
- Laboratory investigations, including audiologic assessment and lead screening, are recommended for any child with developmental delay and/or autism. Early referral for a formal audiologic assessment … Lead screening should be performed in any child with developmental delay and pica…
And the present clinical practice recommendations:
- Genetic testing in children with autism, specifically high-resolution chromosome studies (karyotype) and DNA analysis for Fragile X, should be performed in the presence of intellectual disability (or if intellectual disability cannot be excluded), if there is a family history of Fragile X or undiagnosed intellectual disability, or if dysmorphic features are present. However, there is little likelihood of positive karyotype or Fragile X testing in the presence of high-functioning autism. How would you know if 2 year-old has ‘high-functioning’ autism?
- Selective metabolic testing should be initiated by the presence of suggestive clinical and physical findings such as the following: evidence of lethargy, cyclic vomiting, or early seizures; presence of dysmorphic or coarse features; evidence of intellectual disability cannot be ruled out; or if occurrence or adequacy of newborn screening is questionable. How about adding gastro-intestinal disturbances?
- There is inadequate evidence to recommend an electroencephalogram study in all individuals with autism. Indications for an adequate sleep-deprived electroencephalogram with appropriate sampling of slow wave sleep include clinical seizures or suspicion of subclinical seizures and a history of regression (clinically significant loss of social and communicative function) at any age, but especially in toddlers and preschoolers. Get that? EEG not necessary.
- Recording of event-related potentials and magnetoencephalography are research tools at the present time, without evidence of routine clinical utility. Drs. Rossignol and Frye might disagree. It certainly could be of more value than a plain EEG.
- There is no clinical evidence to support the role of routine clinical neuroimaging in the diagnostic evaluation of autism, even in the presence of megalencephaly. Get that? MRI not necessary.
- There is inadequate supporting evidence for hair analysis, celiac antibodies, allergy testing (particularly food allergies for gluten, casein, Candida, and other molds), immunologic or neurochemical abnormalities, micronutrients such as vitamin levels, intestinal permeability studies, stool analysis, urinary peptides, mitochondrial disorders (including lactate and pyruvate), thyroid function tests, or erythrocyte glutathione peroxidase studies. Get that? Alternative treatments not necessary. Well, maybe they would be if it were your child.
The AAP has sounded the A.L.A.R.M. Now the doctors need to listen.