© Mike Connor 2005.
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The first section of these notes cites evidence for physical correlates in the brain of the autistic, in terms of the operation of neurotransmitters and their receptors.
There follows a summary of work focusing upon the role of the parent or carer in enhancing language and interaction by taking a lead from the child as opposed to seeking control.
The value of social stories is
reinforced ; and the effectiveness of Risperidone in ameliorating autistic
symptoms is described.
The final section refers to work providing some insight into the phenotype of
autism that may be observable in close relatives of individuals with autism,
with an implication of various genetic influences upon different components of
the condition rather than upon the condition as a whole.
The Reality of Autism
The significance of this sub-title lies in responding to one view of autism as an “invisible” condition in that the idiosyncratic and sometimes apparently bizarre behaviours are not easily understandable, nor does the child appear different from peers in any readily observable way except in terms of social or communicatory idiosyncracies.
There may, accordingly, be some
risk lest there is a limit to the extent of public concern and support for the
families with a child with autism, despite the potential good will and
supportiveness among the public at large which is readily mobilised in the case
of families where the special needs of a child are more overtly recognisable,
as in physical or sensory forms of disability.
The same may apply to cases of
ADHD or of dyslexia, for example, despite matching to diagnostic criteria and
formal identification, and it may well be reassuring to those families
concerned that there is a growing body of research evidence for physical signs
and symptoms (in terms, for example, of the shape and size and functioning of
certain brain regions and structures) by which to counter any cynicism or
doubts about the validity of the needs.
Recent research in respect of the
aetiology of autism (Millonig 2004) started from the premise that autism may be
viewed as a genetic condition, although they note that the contributory genes
have not been easily pinpointed ; and there is a growing view that it is not a
matter of a single gene or even of one entire chromosomal area, but of a number
of gene mutations.
This current work followed up
existing evidence that a common feature among samples of individuals with
autism is some reduction in the size of the cerebellum, which is significant in
itself given its known role in the regulation of attention and language. Further, it was noted from laboratory
studies that a mutation in the EN2 gene was associated with these cerebellar
anomalies, with the possible implication that this gene is contained within the
region of chromosome 7 which has also been recognised as showing differences or
deficits among individuals with autism.
Millonig et al had already
identified two heritable variations in the DNA sequence of this EN2 gene, and
have repeated their work to involve a larger sample of families (a total of
548) by which to confirm the significance of some dysfunction of the gene. This gene normally operates to encode a
protein by which to control or coordinate the expression of many other genes …
with explanatory implications for problems in CNS development and efficiency
across a range of areas and, therefore, for an equal range of behavioural signs
and symptoms.
The longer-term goal of this work
is to determine which are the further genes linked to the EN2 gene thus to be
able to make an early identification of individuals at risk and to initiate early
intervention by which to stimulate compensatory functioning and development.
In a related area of research
under way at the Boston University School of Medicine, evidence has been gained
that individuals may be differentiated from non-autistic peers in terms of
fewer receptors for the neurotransmitter acetylcholine and of a greater density
of neurons in (parts of) the cerebral cortex. (Blatt et al 2004)
A neurotransmitter functions by
acting upon particular receptors upon neurons in order to send either
excitatory or inhibitory impulses, and are part of a complex system of
communication across the CNS. The
hypothesis being explored by Blatt et al is that, in autism, the critical
balance between excitatory and inhibitory input to certain brain regions is
disrupted.
The ongoing goal here is to
identify which neurochemicals are affected in the CNS of people with autism
thus to clarify the (faulty) mechanisms which underlie the observable signs and
symptoms of the condition.
Already identified are some
changes operating upon inhibitory effects within the cerebellum and the
hippocampus … both involved in learning and memory functions.
There has also been found to be a
decrease in the receptors for serotonin as well as for aecetylcholine within
parts of the cerebral cortex, with the implication that multiple
neurotransmitter systems are affected in autism thus limiting the scope for
complex though processing.
The significance of studies of
this kind is in highlighting not only the changes or dysfunctioning in the
neurotransmitter systems, but also the specific brain regions where they are
concentrated … with the ultimate possibility of devising medication that can
target the underlying deficits within autism and not just the observable
symptoms.
The work of Aldred et al (2004) began with a recognition of the heritable nature of autism, but also of the considerable influence of the nature and context of social care upon the long term outcomes.
They note, for example, that the emphasis within interventions is upon psychosocial rather than biological approaches …. but the concern, giving rise to their own study, relates to the apparent lack of systematic evaluation of these interventions.
What studies have been completed have usually been subject to some methodological weaknesses, particularly in respect of an absence of control groups, or non-randomisation of allocation of children to groups, or inadequate sample sizes, but the available evidence has shown that the children’s functioning can be enhanced by those strategies which involve a predictable structure and specific support for gradually-increasing social interaction.
In any event, these outcomes have indicated that the core deficits such as poor joint attention, limited pragmatic language, or failure to recognise or read social messages, may well be effectively reduced by well targeted and individualised interventions.
The example of joint attention is further explored, with reference to its association with language delay or failure to maintain a topic, and to the way in which shared attention provides a “scaffolding” for emerging communication skills in normally-developing children.
Meanwhile, the lack of pragmatic language is observable in the dependence upon rote utterances, and in the limited frequency of child-initiated contacts, and all this will underlie some failure on the part of parent and child to establish a kind of communicative system or rapport, and language development falls increasingly behind.
A particular effect may be upon the parental style of language in that it may become more controlling or didactic, seeking to control the child’s attention …. language interchange becomes one-way and non-reciprocal.
The view of Aldred et al is that an important goal is that of enabling the parents or carers to become sensitive to the child’s style and level of communicative efforts and to respond to any initiative on the child’s part, with a view to maintaining and increasing those initiatives and facilitating gradual language improvements.
This reflects the advice from Conti-Ramsden (1990) that, when the adult can adopt a communicative style that matches but also complements the child’s utterances, with some small additions that would be within the child’s competence, then there will be more rapid vocabulary development in the child.
This present study, therefore, was concerned with the means of promoting sensitive parental responses by which to establish joint attention, and to provide models of language usage through action routines and verbal labelling plus elaborations and repetitions.
(Perhaps, one might comment, it is a matter of seeking how to modify the existing and apparently automatic capacity in the parents of normally-developing children to match their language style and responses to the level of development of the child.)
The authors refer to a social communication “package” which sets out to increase the quality of parental communication with the autistic child. Guidance is offered about identifying controlling and intrusive responses in contrast to responses which are more likely to elicit active and pragmatic-like exchanges with the child.
A set of guidelines are available to highlight the sequence of early and pre-linguistic skills, and the initial emphasis is upon the gaining of shared attention, parental sensitivity to the child’s utterances or communicative attempts, and their adapted style of responding by which to consolidate then elaborate the child’s performance.
The parents or carers attend a series of training sessions, then attend weekly sessions with the child over a six month period, followed by a further six months of less intensive sessions.
Use is made of video-interactive guidance where the play and interactions between child and adult are reviewed, and the most effective aspects highlighted … such as synchronous parental comments or actions which maintain the child’s responsiveness and verbal responses which relate in meaning to the child’s verbal or non-verbal topic.
Daily sessions to practise the
skills developed are maintained with the goal of generalisation of the changes
acquired into the more natural setting of the home.
(A full account of the intervention is set out in Aldred et al 2001)
The study involved a sample of 28 children with a formal diagnosis of autism gained between the age of 2 years and 5-11 years. The sample was randomly divided into a treatment and a control group.
The assessment measures included the Vineland Adaptive Behaviour Scales ; the Autism Diagnostic Observation Schedule ; the MacArthur Communicative Developmental Inventory ; and the Parental Stress Index ; alongside the video-recordings of interactions.
The basic question posed by the authors was whether or not this intervention produced any benefits over and above those associated with routinely available services and care.
Observations indicated that the treatment group did show an increase in the quantity of parental synchronous communications likely to maintain interactions (and a decrease in asynchronous responses of a kind seeking to take control of exchanges and failing to respond to the child’s communicative attempt and purpose).
Meanwhile, external ratings of autistic symptoms showed a decrease among the treatment group compared to controls. The gains were largely a matter of enhanced social interaction, along with some reductions in stereotyped or restrictive behaviours, although these latter did not reach a significant level.
Parental ratings indicated a significant increase in the expressive vocabulary of children in the treatment group compared to controls ; and the frequency and quality of observed child communication acts increased in this group while decreasing in the controls, especially among the younger children who demonstrated low functioning at baseline assessment.
An apparent relative improvement in shared attention in the treatment group did not reach a significant level, but the amount of shared attention noted in the repeated Autism Diagnostic Observation Schedule did show differential improvements in this group.
The authors recognise that the study was limited in not being able to determine whether gains were related to additional attention or contact time available to the treatment group of children, but this was though unlikely given the relatively limited amount of additional time that was given by the therapists (3 to 4 hours per month). There was also the possibility that the benefits could result from a general reduction in parental anxiety following the increased attention and support ; but this was also thought unlikely given the largely unchanged pattern of stress index scores from initial to follow-up rating.
Therefore, support was claimed for the benefits of this intervention which reflected the advice of Howlin (1998) that critical ingredients for success are the level of structure and the individually-tailored nature of any programme. In this case, the specific focus was upon the bi-directional communication break-down or the lack of joint attention that may be common among children with autism and their parents/carers.
The further hope is that interventions which can improve early social communication competences can promote developmental skills more widely and reduce the probability of (secondary) emotional and behavioural problems.
Further Use of Social Stories
A case study involving a child with autistic, language, and learning problems was introduced by Moore (2004) with a reference to the concept of “bibliotherapy” which refers to the guided reading of material by which to gain an understanding or a resolution of problems associated with an individual’s therapeutic needs.
There follows a review of the nature and efficacy of social stories (first described by Gray 1995) in respect of helping to manage the social skill deficits and anxieties of children who have an autistic spectrum disorder.
The social story sets out to help the children to learn appropriate and adaptive behaviours to replace maladaptive responses, and, thus, to become more engaged with peers and attuned to normal routines.
Moore describes how his own service has used social stories to deal with a range of difficult or undesirable behaviours such as eating problems, sleeping problems, taking clothes off in inappropriate settings, and failure to establish peer relationships.
The function of the story, as set out by Gray, is to show the child what cues exist in a given situation by which to determine how to act. Some emphasis is placed upon the child’s perspective to be contrasted with how others might perceive the situation, and what is expected or what choices have to be faced.
The story will contain a number of descriptive sentences which provide information about the situation in question, and the people concerned, and the treasons behind actions. Perspective sentences set out how others might see the situation ; and control sentences seek to explain some abstract or difficult situation, often through the use of analogy. Directive sentences are those which highlight desirable behaviours.
The suggestion is that for every directive or control sentence, there should be between two and five descriptive or perspective sentences.
However, in the case of children who will need to have the story read to them, this ratio of sentence types is seen as less critical.
Moore notes that social stories have been found helpful not just with children diagnosed with ASD but for children with a range of learning disabilities.
This presumably reflects the fact that learning disabled children and young people share some or many of the problems with social communication that are characteristic of ASD.
Further, he argues, the world is such that learning has become contingent upon complex social interactions and conventions, so that children who cannot readily tune into these “systems” are at a marked disadvantage, and social stories provide a bridge and compensatory learning mechanism. They appear likely to be all the more effective when coupled with appropriate reinforcement schedules, with much positive feedback or tangible rewards accompanying the completion of component steps towards a target taught through the social story process.
The case study set out is of a 4 year old boy (P) with ASD , severe learning difficulty, and receptive language delay. The presenting problem was that P was refusing to sleep anywhere but in his parents’ room with his mother ; sleep onset was lengthy … up to 2 hours … with P insisting that his mother be in close proximity throughout this time ; he would wake several times in the night demanding a drink ; and would wake up never to return to sleep very early each morning.
Difficult and demanding behaviours during the day were associated with his limited sleep.
The first step in the intervention was to devise a realistic bedtime routine with the parents, whereby the aim was that P would sleep on his own, in his own room.
A social story was written to describe the new routine and what benefits would be associated with P’s cooperation … the praise and treats available for a good night. The book used pictures of his favourite toys and of his bedroom and pyjamas, his night-time drink bottle, the other members of the family, and himself.
P had access to the book as he wanted and the content was read to him by his mother before bedtime, followed by a routine of P’s placing the right labels on the door handles of his own room and the parents’ room to reinforce the difference. This action was much praised, and followed by a repetition of the story in his own room.
If he woke in the night, P’s mother would increasingly delay her response to his calling out by a minute each night, and the attention would be short, limited to verbal reassurance that he was safe and could go back to sleep.
A chart was maintained by P with his mother, to be filled in by tokens when she felt his improved night-time behaviour had been maintained or had got better still. Similarly, access to favourite Thomas the Tank Engine stories was allowed, contingent upon his behaviour.
The evaluation with the family indicated the usefulness of the procedures, which were perceived as simple and not likely to cause any stress ; and this was taken as further support for the value of social stories with children with ASD …. although it was recognised that there are still questions to be resolved.
These include the impact of the social story per se compared to the impact of other variables ; and whether a social story is as effective as a regular story.
Wider implications from this and similar experiences included the recognition that social stories work in different ways for different children, and they must be individualised. They may also be effective in their helping to increase parental awareness of how more readily to communicate with their child, and the tangible nature of the intervention may be reassuring.
Moore concludes by arguing that normally-developing individuals become aware of and responsive to a whole range of rewards for appropriate behaviours, but the child with an ASD needs help to see the link between appropriate behaviour and positive outcomes. Thus, to criticise social stories as a method of social control is seen as unreasonable and ignores the observation that people do seem more at ease when they can fit readily into a socially constructed world.
Risperidone and Autism
A recent study has indicated that Risperidone is well tolerated among children between the ages of 5 and 12, and is effective at reducing the behavioural symptoms which are associated with pervasive developmental disorders.
A double-blind trial over an eight-week period was completed by Shea et al (2004). This involved 79 participant children, and compared the effect of a mean daily dosage of 1.17mg Risperidone (individual dosage according to child age and weight) against a placebo, with behaviour assessed on a before and after basic according to a number of rating scales including the Aberrant Behaviour Checklist.
The children had been allocated randomly to one or other of the groups.
The results showed that the children in the experimental group significantly improved in terms of rated behaviour, notably in the “irritability” section of the behaviour checklist., but also in respect of the “insecure-anxious”, “hyperactive”, and “overly-sensitive” subscales of the rating material.
The only side effects were sleepiness, albeit readily countered by modifying the dosage, and some weight gain
The authors acknowledged that the study was limited because of the relatively short period of intervention, but argued that Risperidone appeared to be well tolerated and effective in the treatment of behavioural symptoms across a range of types … non-compliance, hyperactivity, inappropriate speech, lethargy and withdrawal, anxiety, and stereotyped-obsessive performance.
The implication concerned the desirability of further and extended trials with a view to gaining an additional means of intervening in behavioural symptoms among children with pervasive developmental disorders.
(In respect of interventions, it is noted that a study based at the Pittsburgh Children’s Hospital is being established in order to determine if there is any scientific basis to the claims that autistic symptoms can be alleviated and improved as a result of dietary intervention … notably the use of a diet that is free of dairy and wheat products, reduced in sugar content, and supplemented by omega-3 fatty acid as recovered from some fish and flaxseed.
The project director – Dr. Michelle Zimmer – has held that there is no existing empirical validation for the efficacy of these diets upon reducing autistic behaviours and symptoms, but recognises the frequency with which parents offer anecdotal evidence for benefits … hence the plan to gain more systematic data from a randomised study where subgroups of young children with autism will be assigned to dietary groups for a period during which physiological measures will be taken along with close monitoring of language performance, eye contact, physical interaction, and repetitive actions.
It may be possible to determine whether or not there is a sub-group of children with an autistic diagnosis who have some deficit in the immune system which increases their sensitivity to certain foods, such as complex sugars and starches, with possible implications for a further and relatively simple means of intervention and management with regard to autistic behaviours.)
Parental Phenotypes
Bishop et al (2004) describe the long-standing suggestion that parents of children with autism may themselves experience some difficulties or show mild forms of characteristics reminiscent of autism, such as some inhibition when it comes to social interaction or communication.
Earlier and long-discredited theories referred to the possible impact of stress operating upon the parents, seeking to look after their autistic children, to produce a significant shift in their own behaviours ; or to some existing maladaptive and idiosyncratic style of parenting having an impact upon the developing behaviours in the child.
The current view suggests that associations between parental and child “style” are more likely to be a matter of genetic mediation.
Evidence for this view has emerged from twin studies, such as that of Rutter (2000), where the probability of twin 2 being diagnosed with autism is greatly increased when the link with the autistic twin 1 is monozygotic rather than dizygotic.
However, even if twin concordance is lower in non-identical pairs, there is still converging evidence that the twins of affected children commonly show a range of neurodevelopmental anomalies, albeit falling short of core autism.
The corollary to this kind of finding was the implication that the same genetic influences that puts the child at risk for autism may also lead to a broad phenotype that may be observed in close relatives of the individual with autism.
(“Phenotype” may be defined as the observable appearance and symptoms of some state or condition, with known aetiological routes, including hereditary influences.)
The point behind this line of thinking is that one will only gain a better understanding of the genes whose (mis)functioning is linked to autism if there is a greater awareness of the nature of the phenotype among the relatives of individuals with autism.
Rutter (op.cit) has argued that it is crucial to determine whether the genetic effects operate on the syndrome of autism as a whole or whether there is a complex pattern of genetic effects operating upon particular components of autism.
A review of studies as an introduction to the Bishop et al research has indicated the likely significance but the inconsistency of data emerging from comparisons between parents of autistic children and control parents (and the present writer – MJC – would speculate that difficulties in this regard would be increased with the growing realisation of the spectrum nature of autistic disorders).
However, it is suggested that the clearest demonstration of the broad phenotype in parents comes from parental reports of their social and communicative histories, particularly with regard to pragmatic skills. Similarly, evidence suggests some anomalies in central coherence or executive functioning.
Bishop et al summarise these findings by referring to observed differences between parents of autistic children and control parents, but to the subtlety of these differences which may not be readily identified by single assessment or observation sessions, along with an absence of clear criteria for identifying a differentiable phenotype.
In their own study, a different approach was used, involving an emphasis upon self- report rather than psychometric assessment. The instrument involved was the Autism-Spectrum Quotient (Baron-Cohen et al 2001) designed to elicit self-ratings among adults to provide indications of the phenotype, in the validation studies of this measure, evidence was gained that it did differentiate adults with certain autistic or autistic-like traits from unaffected adults, and was sensitive to mild autistic-like features in the population as a whole, supporting the spectrum concept.
Men were more likely than women to fall towards the autistic end of the continuum, as were those engaged in careers within Science and Engineering compared to those working in careers more linked to the Arts.
The outcome of their comparison between parents of formally-diagnosed children with autism and control parents showed significant effects in the predicted direction. Firstly, that men tended to score more highly than women in respect of autistic or autistic-like styles ; and that the group pf parents of the autistic children could be differentiated from the control group of parents in terms of reported social skills and communication.
The Autism-Spectrum Quotient identified relatively high rates of autistic-like traits in parents of children with ASD in these two areas, albeit not in the components of attention-switching, attention to detail, and imagination. Further, these two components were closely correlated, with the possible implication that they might share some common cognitive dimension.
The authors then pondered whether social and communicative aspects of autistic behaviours could be seen as a separate dimension from other aspects of autism, such as rigidity of thought or over-focused attention. They refer to the ongoing work of Baron-Cohen et al (2003) in respect of the two broad ways in which people make sense of and predict events. There are empathisers, most commonly females, who examine others’ emotions and seek to tune in to others’ thoughts and feelings … with some overlap with social and communicative skill ; and there are systemisers who are most commonly males who seek to understand the rules and mechanics by which behaviour is determined and which requires the ability to attend to details.
The current findings suggest that parents of individuals with autism have relatively low levels of empathising skill but do not differ from other parents in terms of systemising skill. Perhaps there is genetic fractionation of different components of the autistic syndrome with only the empathising parts showing high heritability.
Further analysis also suggested that the parents of autistic individuals show a disparity between their ability to learn words plus their meaning, and their use of the language learnt by which effectively to make and maintain contacts.
* * * * * *
M.J.Connor
November 2004
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© Mike Connor 2005.
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