Strictly speaking, the term “epidemic” should be reserved for infectious diseases. I realise that the term has now bled into everyday language to mean a large rise in prevalence rates for anything (e.g. obesity epidemic), but the original clinical definition was to describe the spread of infectious diseases (e.g. ebola epidemic). I’m a clinical terminology pedant; I lose sleep over people that call a “fascination” an “obsession”, so you can imagine my loathing of the headlines of “autism epidemic” to describe the increased numbers of people being given a diagnosis of autism. The reported autism prevalence rates have increased from around 1/100 to 1/68 (that’s about one child in every 2 state school classrooms). However, even if the lay terminology is accepted, the rise in numbers of people diagnosed with autism has more to do with changing diagnostic classifications and awareness than an environmental hazard that shock-headlines would like us to anticipate. There are many press and internet articles that discuss this, but I didn’t feel that they fully explored the territory, so here is a researcher and clinician’s view of the reasons for increased rates of autism.
Why do boundaries in classification change?
Autism is primarily a genetic disorder and the genetic basis of autism is pretty much undisputed now. Although environmental hazards may play a role, these are generally on the basis of a pre-existing genetic vulnerability. There are several known genetic disorders already identified that highly predispose to autism (e.g. Fragile X, tuberous sclerosis, neurofibromatosis), but these disorders account for only a small proportion of the total incidence of autism. The bulk of people with autism have what is called “idiopathic autism” the genes for which have yet to be identified (although several genes are suspected and are undergoing rigorous going over by scientists, none have been conclusively proved).
The identification of genes for autism is a tricky problem, as it is not a single gene that is wonky in autism. If it were, then it would have been identified long ago, like other single gene defects (cystic fibrosis, tuberous sclerosis) and we would be able to test for it readily with a genetic test. It is likely that there are multiple genes, say 6 (this is an educated guess), that are all required in order to generate the disorder. These genes are common, and both you and I are probably carrying several of these genes right now and have already handed them over to our children. Like in the National Lottery though, it is quite common for individuals to have a few of the numbers that come up, but it is much rarer to have all 6 numbers together. In the case of autism, only the people with all 6 genes get autism. Also like in the National Lottery where 5 numbers will get a small pay-out, people with 5 genes may get a watered down version of autism.
Scientists have been using all the tricks available to them to try and elucidate the precise gene combination. A few years ago, the computer capability to do Genome Wide Association Studies (GWAS) (where you sequence the entire genome of subjects with autism and the entire genome of subjects without autism, bung the lot in a very big computer and get it to output the combinations of genes that are common to people with autism but not present in the people without) was supposed to lead to a major breakthrough in autism research. It didn’t. The reason being that as all scientists know; if you put sh*t data in, you get sh*t data out. The conclusion amongst researchers was this: the people that we are defining as “autistic” and “not autistic” are wrong. If there are non-autistic people in the “autistic” group; or more likely, autistic people in the “not autistic group”, this will mess up the results.
How are we currently diagnosing autism and is it correct?
The current classification manuals for diagnosing autism (and other mental health problems) are the DSM (used in the USA) and ICD (used in Europe) manuals. My husband has a similar book for “diagnosing” if a mushroom that he finds on the heath is poisonous or not. There is no blood test or scan, only the basic science of observation and interrogation. You might, (and some do) dispute the validity of such classification manuals, but it has thus far served my husband, who has a penchant for putting foraged fungi into his mouth, well (i.e. he has correctly been able to avoid the death cap by consulting his book). A hundred or so years ago, manuals like these were used to diagnose everything from brain tumour to Down’s syndrome (doctors of old diagnosed brain tumours from symptom check-lists including things such as headaches and vision problems, and having round faces and “Mongolian eyes” suggested Down’s syndrome). By fine tuning the classification and studying the people identified, it has become possible to find causes and cures. If classification had not initially taken place, cures would not have been found. This is where we are currently at with autism, fine-tuning the classifications based on new research findings, the precursor to elucidating cause and generating treatments and cures.
The by-product of fine-tuning the classification manuals is a change in disorder prevalence rates. Old classification manuals stated that all children with autism had a learning difficulty, this was found not to be true and newer classifications reflect this. Older classifications state that autism is largely a disorder that only affects boys; newer classifications describe what symptoms may look like in girls. In previous classification manuals, it was stated that if a child had ADHD, they could not have autism, this is now known not to be the case and indeed 30%-50% or so of children with autism have ADHD. New classifications allow this diagnosis to be made. Thus, over the years, with increased research pointing to a wider distribution of the core symptoms of what “we” scientists and clinicians see as autism, and with each revision of the classification manuals, the description of “an autistic child/ person” has changed vastly. An intelligent, inattentive girl with core features of autism, diagnosed with autism today would not have received a diagnosis even 50 years ago, and I am pretty sure that our current classification will not be the last revision.
Some might call this changing boundary of diagnosis pharma and clinical collusion to “medicalise natural variation”; but as I mentioned previously, I prefer to see it as a scientific journey we are halfway/ dare-I-even-believe three quarters of the way through, towards an understanding of aetiology and generation of treatment and cure. Who knows, when aetiology is found, the boundaries may yet shrink back.
The conclusion to the journey may not be far off. Whilst geneticists are relying on better patient classifications to do genetic studies on, neurophysicists are relying on better patient classifications to do neuroimaging and functional neuroimaging studies on. We are already almost at the stage where a computer can accurately predict if a person has autism or not based on their brain scan (Ecker 2010). It may be within my life-time (my grandpa lived to 104 years so I have an optimistic life-expectancy) that the diagnostic classification manuals can be ditched for a brain scan or set of genetic tests; just as has already happened in the case of brain tumour or Down’s syndrome.
Raising awareness of health conditions is a great thing. Many people have benefitted from the increased awareness of autism over the last 10 – 20 years. Autism is a condition that babies are born with and that they will grow and live with life-long. There is no current treatment for the core symptoms, let alone a cure, but the correct support for the child, family and school, can have a significant impact on outcomes. Improving awareness encourages people to come forward for assessment and diagnosis and access support; improving awareness leads to requests for more and better services; improving awareness leads to higher profile and political will to spend on autism; improving awareness leads to better acceptance and understanding of people with autism. I can say nothing but good things about raising the profile and awareness of autism. In 1988 when Rainman was first released, I had never heard of autism. I think if a film about autism was released now, the majority of people would have heard of the condition. Without a doubt, the number of families seeking autism assessments for their children has increased, and this can only mean increases in diagnostic rates.
An epiphenomenon to improving awareness that has also contributed to increased prevalence rates is due to what can be discretely called “diagnostic inflation”; or what can be better understood as “overdiagnosis” or “misdiagnosis”. It is an unpopular but real notion. It is one thing to “raise awareness” of autism, but it is another to educate about autism. I think if I surveyed a group of 100 parents, they would all have heard of autism but I think that only a handful of the 100 parents surveyed would be able to give a passable definition of the core symptoms of autism.
Why stop at parents? Teachers, GPs, paediatricians, child psychologists and child psychiatrists, especially those that trained ten or twenty years ago when autism was relatively unknown and unsexy may not be up-to-date on autism and certainly many fewer will have completed and maintained specialist training on autism diagnosis. Couple this with the improved awareness from parents of the diagnosis and the political will to allow access to substantial resources (welfare and educational) only for a diagnosis of autism and you have a system that will favour increased diagnosis.
I think that now that the job on awareness has been done, we need to work harder on the education front.
Has there been any real increase in autism at all?
This was the topic of discussion at the last Royal College of Psychiatry conference I went to. The consensus was that there was, but that this real increase was much less dramatic than the increase accounted for by classification changes and increased awareness. Many studies have focused on insults in pregnancy and environmental toxins. The research on these has yielded minor or inconsistent results, certainly nothing that alone would account for the real rise seen. The only factor that was given significant credibility was that of the increased age of the mother AND FATHER of autistic children.
Whilst awareness of the effects of maternal age on children’s outcome has been well-publicised (increased risk of Down’s syndrome as one well-known example), the risks of older dads has been less so. Yet, paternal age has long been established as a risk factor for schizophrenia (Malaspina 2001), and there is now emerging evidence for association of paternal as well as maternal age with autism (Reichenberg 2006; Durkin 2008; Sandin 2012).
It is ironic that many people sought to blame a vaccine for increasing levels of autism, in some instances sparking fears of a real epidemic (of measles), when in fact, like so many other health problems, the cause may prove to be within our own life-styles.
Ecker C, Marquand A, Mourão-Miranda J, Johnston P, Daly EM, Brammer MJ, Maltezos S, Murphy CM, Robertson D, Williams SC, Murphy DG. (2010 ) Describing the brain in autism in five dimensions–magnetic resonance imaging-assisted diagnosis of autism spectrum disorder using a multiparameter classification approach. Journal of Neuroscience. 11;30(32):10612-23.
Malaspina D, Harlap S, Fennig S, Heiman D, Nahon D, Feldman D, Susser ES. (2001) Advancing paternal age and the risk of schizophrenia. Archives of General Psychiatry, 58(4):361-7.
Reichenberg A, Gross R, Weiser M, Bresnahan M, Silverman J, Harlap S, Rabinowitz J, Shulman C, Malaspina D, Lubin G, Knobler HY, Davidson M, Susser E. (2006) Advancing paternal age and autism. Archives of General Psychiatry. 63(9):1026-32.
Sandin S, Hultman CM, Kolevzon A, Gross R, MacCabe JH, Reichenberg A. (2012) Advancing maternal age is associated with increasing risk for autism: a review and meta-analysis. Journal of the American Academy of Child and Adolescent Psychiatry. 51(5):477-486.
Durkin MS, Maenner MJ, Newschaffer CJ, Lee LC, Cunniff CM, Daniels JL, Kirby RS, Leavitt L, Miller L, Zahorodny W, Schieve LA. (2008) Advanced parental age and the risk of autism spectrum disorder. American Journal of Epidemiology. 168(11):1268-76.
This is part of the infant 360 degree appraisal series on social ability. This post follows on from previous posts on basic,and higher level social ability and will give you information about social hierarchy in 4 year olds. I am not an expert in social anthropology and so the following is just a précis of my own observations using my knowledge of human behaviour and social science that are part and parcel of psychological and psychiatric training.
One of the best places I have found to observe social skill in my children is at a kid’s birthday party, particularly at age 4 years where the tendency is to invite the whole class. Unlike a classroom environment where structure is ever present, and authority stems from the teacher, a birthday party is like the school playground where it is a social free-for-all. In any school assessment we professionals conduct, we always observe the child in the playground as well as in the classroom because, here, and only here, children are left to fend for themselves without adult intervention, it is quite literally a different world.
For a child, the birthday party scenario is one of the most challenging of their social skill. Hell, even as an adult, who does not occasionally quiver in fear at the prospect of having to make small talk with numerable new people at a work do or colleague’s birthday party? Observing how your child copes with this situation is a real test of their social skill in the most difficult of social situations. I had stumbled on this quite by chance by attending numerous kids’ parties, but then my instincts were ratified when I found out that Professor Dale Hay, Professor of Psychology at Cardiff University uses the “Birthday Party Scenario” to assess social skills in children. Her team at the Cardiff Child Development Study, have been hosting mock children’s birthday parties on a weekly basis in their department for the last 7 years. A PhD student is even tasked with appearing at the end of each party in a bear costume! Fab!
Here, not only is it possible to observe your child’s social skill, but also their pecking order in the social hierarchy. Yes, just like in the jungle where our primate relations fight it out to be alpha-male and high-ranking female, so all human societies have a social hierarchy, even amongst 4 year olds. At the top end of the social ability spectrum, the highly socially skilled children battle it out for top-dog status. I was first alerted to this by Big Sis’s nursery teacher. One day, she told me that Big Sis had a bad day at school because “there are some girls in the class with strong personalities and they are clashing for dominance”. It didn’t take me long to figure out that Big Sis was one of the said girls and I made a passing comment about monkeys fighting it out to be alpha-male. I was quite used to the concept of social hierarchy in teenagers and adults. The whole genre of teenage movies from “Pretty in Pink” to “Mean girls” and “High School Musical” are based on the well-established angsts of social hierarchy – but really – does it start in nursery and reception?
The sad answer is “Yes”. After frequenting many of these birthday parties and taking the obligatory shot of the birthday girl/ boy blowing out the candles of their cake, I noticed that in every single picture, the same few children, Big Sis included, were at the birthday child’s side. This happened even when the birthday child was not a particular friend of Big Sis. I began to observe a pattern of “top table children” at birthday parties where the same children would be seated around the birthday child, regardless of whose birthday it was. I developed a theory of social hierarchy being played out in the seating of children at birthday parties. I began to watch these top-table children, and they seem to be extremely socially aware of what is going on. For instance, they anticipate exactly when the call to be seated for food will go out, and where the birthday child is likely to sit (usually somewhere in the middle or at the top end depending on table layout). They then seek to position themselves at the prestigious seats which are those with closest proximity to the birthday child.
Big Sis and her friends were experts at this, but one incident stands out. Big Sis broke her leg and was required to use a zimmer frame to hop around. At a friend’s birthday party, at the all-important call to be seated, there was the usual rush amongst children to sit in proximity to the birthday boy. The table was laid in one long line, and the birthday boy moved to seat himself in the middle. I was observing Big Sis. She saw that all the children ran to seat themselves directly next to the birthday boy and there was a tussle amongst “high-ranking” children here to gain the prestigious seats. She was first to see that the seat opposite the birthday boy, of equal prestige was free and hobbled as quickly as she could on her zimmer frame down to get to the other side. Although she was clearly first off the mark, her able bodied “high-ranking” friends who had missed out on the prime seats next to the birthday boy, had now seen the free seats opposite as she had, and they raced passed her to claim the seats. I had to laugh at this as it proved my theory about birthday seating hierarchy correct. Much to my amazement, when Big Sis got to the seats she had wanted, which were now occupied by her popular friends, she started asking them if she could sit there. Clearly no alpha-child was going to give up their seat, but good-on-her for trying! I felt sorry for Big Sis, as she would certainly have got there first had she not had a broken leg, so in this instance I intervened and I pulled up a chair so she could sit there with her friends. They were happy to make space for her, but I am pretty sure that they may not have done this for all children; girls, even age 4 years are quite good at social exclusion.
In complete contrast, Lil Bro appears devoid of this social antenna. He will without fail ask to go to the toilet just before the call to be seated for food at birthday parties, such that we will emerge from the toilets and he will be sat at the last available seat a mile-away from the birthday child, even if the child is a good friend. Even when he is there, he will stand rooted to the spot until all the other children have sat down before finding the last available seat that nobody else wanted. He appears oblivious to social hierarchy and would even risk being isolated to the cold corner seats at his own sister’s party if I did not reserve a seat for him at his sister’s side. The good thing is that it neither concerns him nor bothers him. I have to admit that occasionally it bothers ME, only because I aspire for him to be super sociable and popular, but then I just have to slap myself in the face, recognise that his needs are different from my wants, see with my own eyes that he is happy and confident and let him BE. Imperviousness to social pressure is also a great strength in itself!
Clearly I have never told my children where to sit at birthday parties, and I doubt anyone ever has, so it is interesting for me to observe the presence and absence of these social instincts in such young children. This ability, termed social osmosis (i.e. picking up knowledge from social experience rather than actively being taught) is thought to be lacking in children with autistic spectrum disorder. Those with excellent social osmosis and social ability are able to climb to the top of the social hierarchy. Their success is not based on physical dominance (aggression), but social dominance – the ability to make friends and influence people. The funny thing is that once you are on the look-out for it, you see examples of hierarchy in 4 year olds all the time.
When I volunteered to go into Big Sis’s class to paint faces, the teacher asked me to choose the first child to have their face painted, and then they were allowed to choose the next child. Whilst painting one girl’s face, her male best friend loitered around saying “please choose me next”. Big Sis had told me that these two classmates were best friends, lived close together and did everything together, so I was not surprised when she smiled, and seemed to agree. Then, out of the blue saunters in “alpha-male”. A bigger, and brighter boy with better social skills. “Please choose me next” he said politely. I smiled, the wicked smile of a child psychiatrist about to test human nature, and asked the fateful question: “So, who do you want to go next?”
The answer is as predictable as it is gut-wrenching , but alpha-male wins every time, and “the boy-next-door” had to wait in line. Social hierarchy in children it seems plays out just as social hierarchy plays out in adults. You only have to observe the parents at children’s birthday parties to see this. But that’s a different story…
Social ability is probably as important, if not more so than cognitive ability. There are plenty of people with excellent cognitive ability who somehow don’t succeed as well as they might because they find being with other people difficult (or others find difficulty in being around them), and we all know people who are not the brightest spark, but get very far being affable, cheeky and great fun to be around. The funny thing is that although maths and English are actively taught at school, social ability is not a taught course. Children must somehow divine social understanding from what they observe or experience going on around them. Luckily for most of us, evolution has imparted us with specific hardware within our brains to assimilate and use such information about our social world. Not so lucky for children where this hardware is impaired (e.g. in autism).
Babies will typically smile at around 6 weeks of age. Isn’t it strange that this relatively useless developmental milestone is acquired so early? Not really, when you think about the evolutionary advantages gained by a smiling baby. If you are running from a flood, would you be more or less likely to take your baby with you if it was always smiling adoringly at you? Yes their smiles are evolutionarily engineered to aid their survival, we parents are such suckers.
Another early developmental marker of social ability is a preference to look at faces, and in particular eyes. The centre of human communication is a person’s face. This is the input and output zone for verbal communication and where non-verbal communication is the most expressive. Most adults can tell what another adult is thinking by looking at their face even if they are not saying anything. Even when the person is saying something, the face can convey a different message. There are lots of emails that I have received where I have been unsure about the meaning (joke- or not joke?) because I have been unable to judge the face/ tone of voice with which the email has been written, which exemplifies the importance of non-verbal communication. So common is this problem and so useful is the face, that we now commonly use a face picture in our emails to depict the meaning of emails that we send! Typically developing babies and children are born with in-built ability to hone their attention to people and faces because they know this is where the bulk of social context is going to be gained (Chawarska 2013). No one teaches a baby to do this, you either have it, or you don’t. Early on as a parent, you can check your baby’s social ability hardware by checking whether he/she prefers to look at your face/ eyes and if their eyes follow you Mona-Lisa like around the room.
Babies and young children are primed to attend to their parents’ every action and imitation is present from a very young age. If you make faces at a young baby, chances are, at some stage you will see the baby trying to move his/her face to copy your expression. There are hours of fun to be had doing this. This is early social learning. Later on, they will imitate the vocal sounds that you make, the embryonic stages of speech development, another critical branch of social development.
Babies and young children are also primed to attend to their parents’ emotions, particularly of fear. I acutely remember breast feeding Big Sis while watching a horror movie late one night. At one point, I held my breath in anticipation of something horrible happening on screen. It would have been imperceptible to most people as I did not move or make a sound, and yet, Big Sis stopped suckling, tensed and looked at me. It’s no coincidence that if you start having an argument with your baby in the room, they start crying.
Humans are social beings, they live in communities and societies, they typically like to socially interact. Early social interaction and turn-taking can be assessed by playing with your baby. The typical Peek-a-Boo game (hide your face, then show your face making your baby laugh) popular to all parents and babies is part of the Autism Diagnostic Observation Schedule (ADOS). It is an early indicator of ability to turn-take, an understanding of social reciprocity, of an interaction between two people, a precursor to to-and-fro conversation, to give-and-take in a relationship.
If you are an autism specialist, a first birthday cannot pass without performing a simplified version of the “baby’s birthday party” test from the ADOS. This test is where you set up a dolly’s tea party and play. Many typically developing children are able to give a baby doll a pretend drink from a toy tea cup at the age of 1 year, particularly if they see their parent doing it. If your child is not doing this, don’t worry, many typically developing children acquire this ability to pretend later on, but if they are doing it at age 1 year, as my children were, then it is a sigh of relief that one aspect of their social ability mechanism (pretend play) is functioning.
These building blocks to social ability develop at varying times during infancy in different children, but should be in place by the time of school start. The Autism Diagnostic Observation Schedule has recently been revised to include a Toddler module as it is now recognised that traits are observable at this young age, and in an attempt by professionals to gain early diagnosis to allow children and their families help from as early a stage as possible. It is really helpful to have an early heads-up on potential social problems because school is like the “Hell’s Kitchen” of social ability. Children can get away with pretty poor social skills at home with their parents and adult company, because contrary to popular belief, most adults are nice to children. Children, on the other hand take no prisoners – and going into reception with immature or absent social understanding and ability is truly hard.
When you throw a bunch of children together, that’s when things get really interesting and I will write about this in my next blog on this topic.
Chawarska et al. 2013. Decreased spontaneous attention to social scenes in 6-month-old infants later diagnosed with autism spectrum disorders. Biological Psychiatry, 74, 195-203.
 The Autism Diagnostic Observation Schedule (ADOS) is one of the gold standard diagnostic tools for assessing Autistic Spectrum Disorder. Children and adults with autistic spectrum disorder have deficits in social interaction and communication (as well as repetitive behaviours and restricted interests). The schedule involves games and set conversations to be enacted with the child or adult to press for social interaction and exchange. It is designed so that the assessor initially allows the child to display their natural social ability, but then allows the assessor to give staged prompts to get the best ability out of a child if it is not naturally forthcoming. Scores are given for deficits in social interaction and communication, and autistic spectrum disorder is suspected once a threshold is crossed. Most typically developing children and adults, even the very socially able, will score something on the ADOS, and it would be highly unlikely for someone to score 0, so just because your child has some deficits, it does not mean that they are autistic or on the autistic spectrum. Despite tools such as the ADOS and the Autism Diagnostic Interview (ADI), Autistic Spectrum Disorder diagnosis remains a specialist clinical judgement.