Pediatric Pathways

An 18-month-old Girl Who is Not Talking

After reading this article and answering the review questions the reader will be able to:

  1. Recognize early signs of autism spectrum disorders (ASDs)
  2. Describe the process of diagnosis for ASD
  3. Explain how to find resources that will help an autistic child and his/her family

Case

Madelyn is an 18-month-old girl who presents to your office with her mother who is concerned that “she is not talking.” Her mother reports that Madelyn lacks speech and rarely responds to verbal commands. She does not consistently turn when parents call her name. Madeline has a history of recurrent otitis media and was seen in ENT clinic at 15 months of age, where behavioral audiometry raised concern for profound hearing loss. A sedated auditory brainstem response (ABR) was scheduled and the hearing pathways were intact. Tympanostomy tubes were then placed, but this did not lead to increased verbalizations.

Madelyn was a very quiet baby, who has always been “very independent.” She rarely cried, and always seemed content. She has never had much interest in toys, but prefers anything that opens and closes or has spinning parts. She likes to turn pages in books, but does not want her mother to read to her. She walked at 14 months. She sometimes babbles to herself, but not to others. She does not wave “bye” and does not point to indicate wants or interests. Her eye contact is poor.

Pregnancy, birth and neonatal history are unremarkable. Madelyn has been in good health except for the ear infections. There is a family history of “learning disabilities” in the maternal uncle. He is 28 and lives at home with Madelyn’s maternal grandparents. He seems smart, but is not very social and cannot live on his own.

Physical exam shows normal growth, mild macrocephaly (just above the 98th percentile), mildly low muscle tone and hyperextensible joints. There are no clearly dysmorphic physical characteristics. Distal tendon reflexes are normal. She is very self-contained, does not smile at you, and does not make eye contact. She flaps her hands when distressed. You suspect that she has an autism spectrum disorder (ASD).

Discussion

Early Signs of ASDs

Babies who will go on to have autism may seem perfectly fine to parents, although they may have temperamental extremes, either very passive like Madelyn, or very irritable and hard to console. Motor milestones may be normal or mildly delayed. Language milestones may be very impaired, especially receptive language – not turning to name (typically achieved by 6-8 months), not following simple requests (12-15 months) and not pointing to body parts on request (18 months). Expressive language is also typically delayed and may include a history of loss of babbling or loss of a few words. Absolute indicators for an autism evaluation are listed in Box 1.

Box 1. Absolute Indicators for an Autism Evaluation

  • No single, meaningful words by 16 months
  • No communicative gestures by 12 months
  • No flexible two-word phrases by 2 years
  • ANY loss of ANY social or language skill at any age

Diagnosis of ASDs

The clinical diagnosis of ASD is made based on meeting diagnostic criteria by history and on observations of a child’s social interactions in a clinical setting. We are in a transition phase between DSM-IV and DSM-V diagnostic manuals (See Box 2). Our clinic is continuing to use DSM-IV until the State, which approves some of the funding for autism interventions, decides to change. It is not clear whether the new criteria will change the number of diagnoses that are made. Our staff do not anticipate a significant shift.

Box 2. Major changes in the DSM-V

  • The term “autism spectrum disorder (ASD)” replaces all other autism diagnoses (Asperger Syndrome, Autism, PDD-NOS).
  • Delayed speech and language are no longer a criterion
  • Lack of pretend play is no longer a criterion

All children with language delays should have an audiologic evaluation. Children with ASDs are especially hard to test and need an audiologist with pediatric skills. All children who are diagnosed with ASD should also have two basic medical diagnostic tests performed: 1) Array comparative genomic hybridization (aCGH), a detailed look at chromosomes which can detect small but clinically significant microduplications and microdeletions, and 2) Molecular fragile X testing. Specific gene mutations are not identified by aCGH, so fragile X cannot be diagnosed by aCGH, and is not easily diagnosed on physical exam, especially in young children. Furthermore, because the recurrence risk in families is high and fragile X syndrome is a relatively common cause of ASD, it is important to test for fragile X in all children with an ASD diagnosis. Madelyn has a maternal uncle who may be affected, and this pattern strongly suggests that fragile X should be ruled out. In children with ASD who have average developmental abilities (eg, average IQ) and no dysmorphic features, we are unlikely to find a specific medical cause of ASD. Children who have ASD plus other findings (e.g., episodes that suggest epilepsy, severe hypotonia that suggests metabolic disease) should also have appropriate medical diagnostics performed.

ASD Prevalence

What we call “autism” has changed radically over the last 35 years. The spectrum has expanded to include many more mildly affected children, with an expected rise in numbers. Current estimates are that 1-2% of children have an ASD.

ASD Treatment and Resources

The only evidence-based treatment for autism is early, intensive behavioral intervention (EIBI). Working with children in a 1:1 setting for 20 to 35 hours per week for 2 to 4 years has resulted in substantial and unexpected progress for about 50 percent of those treated. There is evidence for both a strictly behaviorally based program as well as a play-based program, with similar results for both groups.

There is also evidence for use of medications to improve some challenging symptoms in autism. Risperidone is FDA approved for children with autism to reduce irritability and hyperactivity. Good behavioral problem-solving should be undertaken before any medication is prescribed. We often create challenging behaviors in children when adults expect children to do things that are beyond their capacity; creating appropriate expectations for parents may help mitigate this situation.

There are other plausible interventions for which we lack evidence, including: speech and language therapy, occupational therapy, social skills training and special educational support. There are many, many implausible interventions, which also do not have evidence-based support (special diets, vitamin supplements, hyperbaric oxygen). There is, of course, substantial evidence that immunizations do not cause autism. We should do our best to direct our families to the therapies that are most likely to provide the most benefit.

Payment for intensive services varies widely within communities and across states. Wisconsin-based insurance companies are required to pay for autism interventions under the “autism insurance mandate.” Those without this insurance option can apply for state funds, and, if they meet the state’s criteria for need, can be put on a waiting list for the “autism waiver program.” The wait for these state funds can be years long. Some children only qualify for what the school system can provide. The system is far from fair. It is appropriate to suggest to families that they call their Regional Center (brochures can be obtained by writing or calling Wisconsin First Step: 800-642-7837), which is staffed by resource specialists, who are very up-to-date with the latest rulings and information for families.

Outcomes

There are limited data about long-term outcomes, but what we do know at this point can be discouraging. Only 10% of autistic adults with at least average have a good or fair outcome. It is possible that adaptive behaviors (e.g., how we use our intelligence in everyday life) may be better predictors of adult outcome. People with ASD and average IQ scores may have greater impairment in adaptive behaviors. The literature suggests that we focus more on functional daily skills in children in order to improve adult success.

Prevention

A recent study suggests that periconceptual folic acid may offer some protection against developing ASD (Suren, et al, JAMA, 2013). Valproic acid taken during pregnancy is also thought to contribute to the development of autism in offspring. There are epigenetic mechanisms that could also plausibly play a role in gene regulation during development.

Conclusions

Autism spectrum disorders cause challenges for children and their families that can last a lifetime. Early detection and intervention can improve the quality of life for everyone affected by ASDs.

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CME Questions

References and Resources

  1. Hersh JH, Saul RA, Committee on Genetics. Health supervision for children with fragile X syndrome. Pediatrics. 2011 May;127(5):994-1006.
  2. Kanne SM, et al. The role of adaptive behavior in autism spectrum disorders: Implications for functional outcome. J Autism Dev Disord. 2011 August;41(8):1007-1018.
  3. Berry RJ, Crider KS, Yeargin-Allsopp M. Periconceptional folic acid and risk of autism spectrum disorders. JAMA. 2013 February;309(6):611-613.
  4. Filipek, PA, et al. The screening and diagnosis of autistic spectrum disorders. J Autism Dev Disord. 1999 December;29(6):439-484.