Screen for autism
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A significant minority of children with ASD, i.e. 20% of those with the typical presentation, apparently develop normal communication skills during the first year of life, and then lose them or "regress" during the second year. These kids go on to develop like other children with ASD, but the family is understandably quite anxious about "cause" in this situation. While a child in the middle of a regression should be investigated for potentially treatable underlying conditions, e.g. active or sub-clinical epilepsy or metabolic disease, most of them have primary, i.e. genetic, ASD. For obvious reasons, it's these families who've been most suspicious of vaccinations, environmental toxins, etc. - none of which have shown any evidence suggesting that they contribute.

Tim's case
Tim is a 2-year-old who doesn't talk yet, although he manages to get many of the things he needs for himself. When he can't get what he wants, he has impressive tantrums and doesn't appear to be comforted by his parents' efforts to calm him down - in fact, he dislikes being held even when not upset, and is quite irritated by his mother's singing. Tim has begun to "run the house" because his parents have noted that he requires things in a particular order so that he can be happy with them. Indeed, one of the frequent triggers for tantrums is a relatively minor deviation in routine. Although Tim's grandparents tried to tell his parents that Tim was "just spoiled," their physician focused on his developmental deviances and suggested an assessment for ASD.

Should we screen for ASD?
Recent epidemiologic data reveal that although the "core" syndromes of autistic disorder or Asperger's syndrome have remained relatively uncommon at a prevalence around 1/1,000, the broader spectrum of ASD has a prevalence of 6/1,000 (or 1/150), and the male-to-female ratio is 4:1. While there's no evidence of increasing incidence, this prevalence makes it likely that every primary care physician will have several children with ASD in his or her practice. In the crucial period between a child's immunization at 18 months and entry into school, it's the GPs who are most likely to encounter the first symptoms suggesting ASD.

Screening has recently been recommended by the AAP on every well-child visit and at ages 18 and 24 months. Many provincial governments in Canada are starting developmental screening programs. While reliable and valid general developmental screening instruments, e.g. the Parents' Evaluation of Developmental Status (PEDS),8 and screens for early language development are available,9 there aren't any good ASD screening instruments yet. At this time, the Modified CHecklist for Autism in Toddlers (M-CHAT) is the best option,10 and is currently in development. A number of "red flags" to guide surveillance for ASD have been identified and are outlined in Table 2. Additional information about screening can be found on the "first signs" website (www.firstsigns.org) or in the AAP statement.1 Screening tests for adults are also being developed.

Patrick's case
Patrick is a 12-year-old who has always done extremely well in school, but is now asking to change schools because of bullying. He started junior high this year, and his parents chose to send him to a larger school with more academic options, as Patrick wants to go to university and become a paleontologist. The kid knows more about dinosaurs than any of his teachers, and will talk about dinosaurs without interruption for hours unless the listener is very blunt in telling him to stop (his family members have learned to do this). Patrick has a new "best friend" in school this year, but unfortunately this individual has been setting him up to do inappropriate things such as "moon" the teacher during class. A counsellor has been helping Patrick understand that this person is actually a bully. The same counsellor has suggested that Patrick might have Asperger's syndrome, and an assessment is being arranged.

When is further assessment required?
Whenever you or the family suspect ASD, further assessment is required. A positive screen is not a diagnosis, and definitive diagnostic assessment is outlined below. All individuals in whom ASD is considered a possibility should have their hearing checked and be seen by a speech-language pathologist in order to connect them with any communication interventions available. Children in the appropriate age group for early intervention or education services should be directed to these, as an intervention worker can both carry out the initial assessment and begin treatment. The question of whether or not to direct families to additional resources about ASD is usually moot, as the majority will already be familiar with the considerable resources of the internet. Many families also benefit from the personal contact opportunities available from their local autism society.

 

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