A behavioural phenotype is a pattern on behaviours that are presented in syndromes caused by chromosomal or genetic abnormalities. Challenging behaviour is an umbrella term that encorporates all behaviours presented by a syndrome that cause harm or discomfort to the person or the other people around them trying to care for them. When these challenging behaviours get bad they need to be stopped to help create a safe environment for everyone involved. They can be presented in a various amount of syndromes in the same way from the same cause or a different cause. Only when the underlying cause is truly understood can a valid intervention be given to prevent the challenging behaviour being present or escalating.
The first behavioural phenotype this essay shall discuss is repetitive behaviours, communication deficits and social impairments. These three behaviours form the triad of autism diagnosis and therefore make this behaviours very important to identify in order to get the best care to the child. Recently this triad has become cut down to the communication and social impairment together and repetitive behaviours. This highlights how important repetitive behaviours are in the diagnosis of autism. However, this can also be a problem as there are now less things that are needed for a diagnosis and therefore behaviours that look like autism may not be that severe. The way these behaviours interact with the environment is crucial as they can manifest in different ways. First of all FXS is the highest syndrome to score on ASD therefore it is interesting to look at. If these syndromes all interacted with the environment the same, an operant account then all these syndromes would show these behavioural phenotypes in the same way and the same amount but this is not the case. Although FXS scores highly on repetitive behaviour they score low on the social impairment scale, this is due to their high motivation in social interactions despite their anxiety in these situations. Therefore their eye gaze aversion is due to anxiety over social distance as it is in ASD. In contrast the net highest syndrome to score on ASD in CdLS, this syndrome however scores high on the social impairment scale. Therefore this highlights that although it is said that many of the challenging behaviours, especially autistic features, are association learnt it seems that for these syndromes it is more to do with their genetic make-up as the impairments do not manifest themselves in the same way.
The next behavioural phenotype is self-injurious behaviour. This is a particularly aversive and damaging phenotype and as a result evokes the most reaction to the challenging behaviour. Mostly this can be treated through DRO to teach the children that they can use a different behaviour if it is present for a communicative reason. However this is not always successful for example in CdLS. In this syndrome SIB is present due to pain. In this syndrome people are suffering from gastrointestinal problems that cause painful reflux contantly. This is very painful and therefore the children start to hit or pick at the areas worst affected. A new theory that has arisen is that these children are actually gating the pain by causing pain somewhere else to make the pain stop where it really hurts. This helps to explain when the self injury is on the back of the hands or elsewhere that seems unrelated to the gastrointestinal reflux. Furthermore in contrast to the environmental theory children with Angelmans syndrome present self injurious behaviour for attention. Also those with SMS cant sleep at night due to issues with breathing and therefore the next day present high levels of self injurious behaviour. Therefore in light of these syndromes it shows that this challenging behaviuot is due to genetic dispositions rather than environmental which it could look like at the surface as they are all presenting the same behaviout.
Another behavioural phenotype associated with syndromes presentation of challenging behaviour is adjustment to routine, or change. This is of concequence to a number of cognitive impairments in syndromes one of which being set shifting. This is the act of doing one activity requiring one rule and then going to another which requires a different rule. Children with RTS, PWS and FXS find this particularly difficult. As a result they often get lablelled as stubborn which is incorrect. Stubborn means that they can do the task they just won’ however these children want to the task they just cant due to the demand in set shifting. As these syndromes do not bear resemblance in cause it could be assumed that these children learn from their environment how to react to such situations. However, when faced with this difficulty the children with the separate syndromes do not react in the same way. Children with RTS and PWS both act out in a temper outburst or aggression; however those with FXS show anxious reactions to this situation. This therefore highlights that the reaction is syndrome specific dependent on their different genetic make-up. In critique of this research small sample sizes were used due to them being observed, however this is not always a disadvantage as it is easier to see in depth the reaction of the syndrome as an average. If more children were observed it would be interesting to know if every child reacted the same or whether these reactions were due to familiar or unfamiliar adults being present.
Overall it shows that behavioural phenotypes are not necessarily a product of the environment, they are syndrome specific and this would therefore suggest that the behaviours are genetic predispositions. Furthermore each behaviour as a specific function and each syndrome has different reasons for challenging behaviours as an act of communication in ASD, attention in AS, or to show pain in CdLS. When these functions are properly identified only then can the correct uintevention be employed to gain success. Up until now many interventions have been under operant techniques and have not worked in all children in regards to decreasing CB and therefore the recent research with pain in CdLS has enabled better intervention and health for both the children with the syndrome and their carers. This has only be achieved through understanding how the environment interacts with behavioural phenotypes to cause challenging behaviour and when it doesn’t.