Screening for autism in young children: 6 questions to ask

Question 1: Does your child ever point with their index finger to ask for something?
Question 2: Is your child able to imitate you or your actions, for example if you pull a face?
Question 3: Does your child ever use pretend play, for example to talk on a phone or take care of a doll?
Question 4: Does your child look at something across a room when you point to it?
Question 5: Does your child understand what people say?
Question 6: Does your child ever bring an object to you to show you something?

The paper from Yoko Kamio and colleagues [1] (open-access) suggests that these 6 questions taken from the 23-item M-CHAT Japanese version (JV) might have the methodological strength to screen for possible autism in toddlers -- at least in Japan. M-CHAT by the way, is one of the instruments of choice when it comes to screening for possible autism and has seen some developments in recent times (see here).

Based on data derived from "two prospective community cohorts in Japan, Fukuoka (cohort 1) and Tokyo (cohort 2)" cumulatively including some 2500 children "who received health check-ups when aged 18 months", researchers analysed data using a model of discriminant function analysis based on groupings of those who were eventually diagnosed with an autism spectrum disorder (ASD) compared with those who weren't. They concluded that their study "identified a highly discriminative 6-item set from the 23-item M-CHAT-JV and demonstrated its reliability and validity with cohort data from 2 geographically different regions in Japan." The results, I might add, were not 100% reliable in terms of the 6-item screening method used, but this is real life and, as far as I am aware, we don't have a perfectly reliable autism screen at the moment.

These are interesting results as a function of the important autism science on the best way to 'red flag' autism in its very earliest days (see here). Indeed, the focus on social-communicative functions (including pointing) follows a trend in the peer-reviewed research literature in this area, as something to focus on when it comes to early screening for autism. I say this bearing in mind that within the very heterogeneous label of autism, there are cases of regression into autism at a time later than 18 months.

"Considering the tight time constraints in primary care settings, a brief screening tool might be helpful in facilitating the integration of autism-specific screening within routine general developmental screening." These are noble sentiments from the authors and kinda accords with some increasing moves in autism practice to make things more streamlined in these resource-austere times that we live in (see here). Obviously we await further research in this area on whether the Kamio findings cross cultures and geographies with other infant cohorts or not. If they do however, combined with the rise and rise of telemedicine for example, the days of the [often] long and expensive autism screening and diagnosis process might be numbered. Oh, and screening might just start to be interactive too [2] (see here for more information on the RITA-T).

Music: iLL BLU - Lonely People ft. James Morrison.

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[1] Kamio Y. et al. Brief Report: Best Discriminators for Identifying Children with Autism Spectrum Disorder at an 18-Month Health Check-Up in Japan. Journal of Autism and Developmental Disorders. 2015. July 19.

[2] Choueiri R. & Wagner S. A New Interactive Screening Test for Autism Spectrum Disorders in Toddlers. J Pediatr. 2015 Aug;167(2):460-466.

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Kamio, Y., Haraguchi, H., Stickley, A., Ogino, K., Ishitobi, M., & Takahashi, H. (2015). Brief Report: Best Discriminators for Identifying Children with Autism Spectrum Disorder at an 18-Month Health Check-Up in Japan Journal of Autism and Developmental Disorders DOI: 10.1007/s10803-015-2527-1

What are the early behavioural signs of autism?

Baby stare @ Paul Whiteley

"Autism is a developmental disorder presenting in early infancy". I think most people would agree with this statement; even those who know very little about autism and its intricacies. I can remember years ago using various videos (yes before DVDs et al there were videos) to demonstrate to groups of students how autism might manifest itself in young children and how presentation can differ from child to child depending on lots of different factors.

I struggle to remember the name of the particular program, but one video in particular gave a very personal, very moving account of a young girl with autism, showing home videos of the child growing up accompanied by a mum's description of her and the presentation of her autism. In one scene, the child is shown in her cot aged somewhere between 3 and 6 months old. It was always striking to me how 'detached' the child seemed even at that early age and based on just a few short minutes of commentary and pictures. The lack of eye contact pinpointing the potential for something in her future development.

Fast forward back to modern times (yes with DVDs and Blue-Ray and portable media) and an interesting paper by Barbaro & Dissanayake* brings me to this post looking at some of the various research done on potential early behavioural markers of autism spectrum conditions. I hasten to add that I have sort of touched upon this topic in a very early post on this blog (here) but consider this a bit of a more detailed update.

The Barbaro paper indeed highlights the lack of eye contact in their analysis of potential early markers of autism, alongside another important skill again already discussed on this blog, pointing. 

But what of the other research done in this area?

• As one might imagine, there is a considerable body of research examining potential early markers of autism. Some names pop up more consistently than others in this area of investigation, one of them being Dr Robyn Young. Dr Young's papers seem to confirm quite a few things that people have suspected for a while. So for example, parents of children with autism are pretty good at spotting when development is not quite as it should be**. Other papers have also said as much, bearing in mind that the experiences when communicating those concerns to certain healthcare professionals might not exactly be 'optimal' in some cases (see this post). 
• Using home videos as potential screening tools is another area where some important data have been collected. This paper by Dr Young and colleagues*** describes how even with a relatively small participant group, several discriminating features were apparent in pre-verbal children who went on to receive a diagnosis of autism including gaze aversion and issues with 'proto-declarative showing'. Notice again the emphasis on social communicative functions (as per the ADTree classifier work), bearing in mind that pointing generally comes a little later than eye contact in child development terms. Similar joint attention findings were also reported in this study by Watson and colleagues****.
• Another quite famous name in this area of research is that of Dr Sally Ozonoff (yes, she of the MIND Institute) and her observations down the years. In particular, her paper reviewing the potential usefulness of family home movies and the early development of autism***** deserves mention. 
• It is however when it comes to examining onset patterns in autism that Dr Ozonoff really comes into her own as per this paper****** (full-text) describing the dimensionality of onset patterns over dichotomous categories.  Again, parents are seen as key partners in 'predicting' autism (see this paper******* full-text). Interestingly, Dr Ozonoff in quite a few of her papers makes mention of the fact that her data does not seem to suggest that symptoms are present at birth as was suggested by Kanner, but rather emerge over time and show a regressive or diminishing factor. A good example is in this study******** (full-text) which prospectively looked at the early signs of autism and suggested that the period between 6 and 12 months seems to be an important one; again re-emphasising the social-communicative features to be paramount. 
• I should also make reference to this paper by Turner-Brown and colleagues********* which has received some publicity on the First Year Inventory for screening at 12 months of age, just to keep up to date.

I admit that I've only really scratched the surface with this post and indeed only paid lip-service to important concepts like regression; aspects of which have been covered in other posts (see here). I would perhaps refer to an additional reference on the topic of regression and onset patterns with a link to this paper by Cohen-Ophir and colleagues********** (full-text). They reported on three case studies charting a slightly different progression into autism outside of the categorisations of (a) slow / subtle regression and/or (b) rapid regression (or indeed (c) the delays + regression phenotype) suggestive of initial developmental delay, a period of rescuing skills falling into typical development, followed by regression into classic autism. 

There are also a few other areas of potential interest to the issue of early behavioural presentation neatly summed in this paper by Clifford and colleagues************ on temperament in high risk infants and this paper by Flanagan and colleagues************ on head lag (I know this is more presentation rather than behavioural).

So to answer the question to the title of this post, what are the early behavioural signs of autism? It seems that social-communicative factors such as issues with eye contact and later pointing might be possible red flags, but also realising that the heterogeneity noted in the presentation of autism to some degree also mirrors onset patterns and the presentation of early behaviours. 

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* Barbaro J. & Dissanayake C. Early markers of autism spectrum disorders in infants and toddlers prospectively identified in the Social Attention and Communication Study. Autism. June 2012.

** Young RL. et al. Parental identification of early behavioural abnormalities in children with autistic disorder. Autism. 2003; 7: 125-143.

*** Clifford S. et al. Assessing the early characteristics of autistic disorder using video analysis. JADD. 2007; 37: 301-313.

**** Watson LR. et al. Communicative gesture use in infants with and without autism: a retrospective home video study. American Journal of Speech-Language Pathology. July 2012.

***** Palomo R. et al. Autism and family home movies: a comprehensive review. Journal of Developmental & Behavioral Pediatrics. 2006; 27: S50-S68.

****** Ozonoff S. et al. The onset of autism: patterns of symptom emergence in the first years of life. Autism Research. 2008; 1: 320-328.

******* Ozonoff S. et al. How early do parent concerns predict later autism diagnosis? Journal of Developmental & Behavioral Pediatrics. 2009; 30: 367-375.

******** Ozonoff S. et al. A prospective study of the emergence of early behavioral signs of autism. Journal of the American Academy of Child & Adolescent Psychiatry. 2010; 49: 256-266.

********* Turner-Brown LM. et al. The First Year Inventory: a longitudinal follow-up of 12-month-old to 3-year-old children. Autism. July 2012.

********** Cohen-Ophir M. et al. Autism in early childhood: an unusual developmental course - three case reports. Case Reports in Psychiatry. 2012.
DOI: 10.1155/2012/946109

*********** Clifford SM. et al. Temperament in the first 2 years of life in infants at high-risk for autism spectrum disorders. JADD. August 2012.

************ Flanagan JE. et al. Head lag in infants at risk for autism: a preliminary study. American Journal of Occupational Therapy. 2012; 66: 577-585.

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Barbaro J, & Dissanayake C (2012). Early markers of autism spectrum disorders in infants and toddlers prospectively identified in the Social Attention and Communication Study. Autism : the international journal of research and practice PMID: 22735682

Its rude to point...

Children have an uncanny nack of picking out details and saying the most embarrassing things sometimes - a lack of 'theory of mind' perhaps? Some examples: moustache - "what's that hairy thing on that man's face?", glasses or spectacles - "why is that woman wearing windows?", the list can go on.

In most of these examples, such questions would probably be followed by a very definite pointing of the index finger towards said object/thing/person, just to make sure that everyone knows what is being described and where it is (for maximum embarrassment impact). The usual response is an awkward smile from the parent / caregiver and a gesture or action for the child to stop pointing (the 'inner child' of many adults is though, also having a secret giggle about such childhood observations no doubt). Pointing in these case is socially undesirable.

A lot has been made about pointing - it's various manifestations and uses - with regards to autism. I was interested in this post as to how pointing is potentially related to autism and the link to things like joint attention. What to do about a failure to point, is also of interest. I might add that I won't be discussing pointing with regards to Facilitated Communication in this post.

The first time I came across pointing as being related to autism was upon reading the ADI-R and ADOS instruments used for assessing autism. In ADOS, pointing forms part of various sections of the schedule including the first-stage module 1 assessment (administered to those with no speech) as an indication of language and communication. In the ADI-R 'pointing to express interest' as part of spontaneous communication of interest is also listed; importantly also including coordinated eye gaze. What this suggests is that pointing, or a lack of it, seems to be quite important during the assessment of autism spectrum conditions. Indeed some authors suggest that it is one of the key markers of symptom onset and potentially tied into regression.

I would add at this point out that there are various forms of pointing (not the construction type) related to what meaning is trying to be conveyed. Pointing to indicate interest - "look over there" is known as proto-declarative. Proto-imperative pointing is the "I want that" form of pointing. Pointing therefore, is a means to an end of direct interest but also serves as an 'attention-grabber' for needs and requirement.

The research on pointing and autism is quite bountiful in terms of communication and use of gestures. What it appears to suggest, specifically with regards to autism, is that proto-declarative pointing, the 'social pointing', seems to be the area of most interest.

I suppose this is to be expected in autism given the emphasis (rightly or wrongly) on the social features being paramount. The thing about proto-declarative pointing also is that it bridges communication and social interaction areas of current diagnostic manuals and is perhaps even the prototype behaviour of the proposals on social affect in DSM V (the words 'pointing' though not appearing in the manual revisions so far). I stress the social and communication domains together because pointing in children with autism seems to differ from pointing in children with a language delay.

The question of what to do about it has also been examined. It appears that you can teach a person to point - at least as part of a joint attention programme. Going back to my point above, the question is whether you are teaching pointing as merely a communicative tool or truly as a social-communicative tool.