Background

The population prevalence of autism spectrum disorders (ASD) in the UK is estimated to be between 0.9% and 1.5%,1–4 and, while it is difficult to get definitive figures concerning the associated economic costs, these have been estimated as being £2.7 bn/year for children, and £25 bn/year for adults5 and, sometimes, this figure is placed even higher.6 Such economic costs result from the impact of ASD on individuals with those conditions, as well as on their families.5 These economic costs are in addition to the significant deleterious health and quality-of-life impacts of ASD for the individuals with ASD,7–11 and for their families, who often provide the primary care for those individuals.12–16 Thus, information that may enhance the effectiveness of initial diagnosis and subsequent treatment of individuals with ASD is critical in elevating these substantial health and economic burdens.

Although there is limited evidence that interventions actually impact on the diagnosed presence of an ASD, the prognosis relating to the various behaviours implicated as important for individuals with ASD has improved over the last few decades.17 ,18 This improvement mainly has been a result of the development of effective intervention strategies; most often these being behavioural and psychosocial in nature.18–21 It is well accepted that such interventions offer a better chance of success if provided earlier, rather than remedially later,22 and, it is also accepted that good diagnostic practice is central to such treatment endeavours.23 That is, obtaining an ASD diagnosis is a key point in the development of a treatment plan for a child with ASD, and the earlier such diagnoses are made, potentially, the better is the prognosis for the child.

Despite these known impacts of ASD on the health and well-being of people affected by these conditions, and the wealth of literature concerning the impact of various interventions on the intellectual and social functioning of individuals with ASD and their families,19 ,21 ,22 ,24 ,25 research into the ASD diagnostic process is still at a relatively early stage.26 ,27 Specifically, there has been little attempt to synthesise research concerning diagnostic best practice in the area, and almost no investigation of the impact of diagnostic practices on the well-being of the parents. This latter issue is particularly important, as parental well-being and functioning are known to exert substantial influence over the outcomes for their children with ASD.28 ,29

The neglect of this research topic has produced a clear and important gap in the literature, and the current article aims to redress this by setting out the existing theoretical and empirical knowledge concerning parental functioning and their child's ASD. In particular, it attempts to integrate the research on the impact of an ASD diagnosis for a child on parental health and functioning, and the subsequent impact of this parental functioning on the child. The aim is to highlight that diagnosis has widespread impacts on the prognosis for the child with ASD; not just in terms of the development of a treatment plan, but also through its impact on parental functioning. Clearly, this is an area about which medical practitioners need to be aware and, ultimately, such work needs to be fed into recommendations about the key issues for parents concerning the diagnostic process.

Parents and ASD

Understanding of the genetic and psychological issues that impact on a person with ASD has developed markedly in the last three decades,4 as has information concerning the effectiveness of child-centred treatments.22 ,24 ,25 These developments have had an enormous positive impact on the prognosis for individuals with ASD.18 However, there has not been a corresponding growth in research and knowledge regarding parental impacts on the treatment outcomes for children with ASD.16 This research and knowledge imbalance may well be due to negative reactions to earlier work in this area, which was perceived as suggesting that parents may cause ASD through their inappropriate, or poor, emotional parenting.30–32 Unsurprisingly, this perception was not well received, either contemporaneously33 or subsequently.34

Previous research in this area focused on putative differences in the personality and behavioural characteristics of parents of children with ASD that were assumed to impact negatively on the child; most notably in terms of the parents’ personalities, often being described as reflecting a lack of social warmth or responsiveness, which mirrored the symptoms of the child's ASD.30 ,35 ,36 It is now well accepted that parents of children with ASD do not differ from any other parents in the general population in terms of their social and personality characteristics.37 ,38 However, since this initial controversial period, there has been a re-emergence of research centring on the role of parents of children with ASD. This work demonstrates that parents are pivotal in determining some aspects of the success of the treatment of their child's ASD. Moreover, it suggests that parental functioning and psychological well-being are highly important to understanding the prognosis for the child's treatment.39 ,40

The contemporary research findings regarding parents of children with ASD have focused on exploring the relationships between having a child with ASD and parental health and psychological functioning. Additionally, this work has begun to explore the relationships between such parental functioning and the behaviours noted in their children, and also, importantly, on the relationship of parental functioning and the outcomes of the child's treatment.28 ,41 ,42 It is these relationships that are often not well known among medical practitioners. In particular, the relationship between the diagnostic process and parental functioning is of great importance for physicians to understand. Indeed, the period over which the diagnosis is made is often the main point of contact between a general practitioner  or consultant and the parents, especially as most subsequent treatment is conducted through psychosocial interventions in the home or school, and not in healthcare settings.4 ,20 Hence, it is these relationships that require further exploration in order to understand how interaction with medical professionals can help or hinder parental functioning, and what the implications of this could be for the child.

Functioning of Parents of Children with ASD

Many studies have shown that parents of children with ASD display increased levels of depression and anxiety,43 ,44 and have a poorer quality of life45 than parents of other children, even when compared with those parents of children with chronic and debilitating physical conditions.44 ,46 Specifically, parents of children with ASD display higher levels of parenting stress41 ,42 than parents of children with almost any other type of disability.16 ,41 It is important to note that this increased parenting stress does not reflect higher levels of stress per se, as these parents tend to report less general life stress than other parents.47 That is, although parents of children with ASD report high levels of stress as it relates to their parenting, they report somewhat lower levels of stress in relation to other life events that are not related to their parenting behaviours. Thus, these characteristics are not the result of these parents having ‘reactive personalities’, in general, but are attributable to the pressures of parenting a child with ASD.

Parenting stress and their general health problems appear to be related to two areas connected with their child's ASD. First, parenting stress and functioning is associated with particular aspects of their child's ASD symptoms. In younger children, below the age of 2 years, parenting stress is related to the social and emotional symptoms displayed by their child, such as a lack of communication and/or social-emotional reciprocity.27 ,40 ,42 ,48 As the child becomes older (and physically larger), parenting stress appears to be more closely related to their child's externalising behaviour problems, such as challenging and aggressive behavioural episodes.41 ,49 ,50 These findings are well established, and are the subject of several models.39 ,40 Second—and as will be developed later in the particular context of this article—parental stress can also be related to their experiences with professionals, especially during the diagnostic process.27 ,51

Such impaired parental health and psychological functioning, in general, and high levels of parenting stress in particular, can in turn, lead to more acute child behaviour problems,47 ,50 and also to poorer child outcomes following treatment.28 ,29 ,52 ,53 For example, if parents are divided into less-stressed and more-stressed groups prior to the child commencing an intervention, then the children of lower-stressed parents show more progress on behavioural, social and educational measures than the children of higher-stressed parents.28 ,29 This effect may not be unique to ASD, as in many paediatric disorders there are established relationships between symptom management and recovery, and levels of family stress.54 ,55 In fact, some estimates suggest that up to 40% of children under 6 years of age who are presented to mental health services had problems (both externalising and internalising behaviour problems) related to the level of stress reported in their families.56

There are several established mechanisms that may explain these relationships. High maternal stress predicts both worse attributions of parental therapeutic self-efficacy,57 and greater negative emotional reactions to children.58 Consequently, self-reported involvement of parents with their children with ASD is lower than for other children.59 These difficulties with parental involvement may also extend to the behavioural and psychosocial interventions given to the children, which often require great levels of parental input.60 ,61 Additionally, parenting stress negatively impacts a range of parenting behaviours, such as limit setting, engagement and communication.62 This evidence derives from studies that have shown a strong time-lagged relationship between parenting stress at an initial measure and parental behaviours measured at a later time point.62 Similarly, these parenting behaviours, in turn, negatively impact on subsequent child behaviour problems and treatment outcomes.61–63 Of course, this has been shown to be true also of parents of children without ASD and, thus, these mechanisms may be no different to those seen across other populations of parents.27 ,39

Findings, such as those described above, have suggested that parental functioning and their reaction to the situation of having a child with ASD, should also be assessed as part of the diagnostic consultation. Those parents in need of help and support, perhaps in the form of counselling, or even more intense ‘talking therapies’, should be offered such help. This would not be a major change in practice as there are already many parent-directed training programmes, both in terms of learning about their child's ASD,64 and behaviour management strategies,65 which are presently available and offered to parents. Indeed, there is some suggestion that the children of parents who have received such counselling intervention can fare better than children of parents who do not,66 although it is unclear whether all parents would benefit from such help.

There are, of course, a number of issues that will need to be clarified in regard to the form of any intervention offered to parents. For example, differences exist between counselling/talking therapies and parent training programmes. A key issue for consideration here is whether parent training programmes, which offer opportunities to learn how to tackle behaviour problems, also offer the opportunity for families to explore the impact of diagnoses for them, and for the potential ‘grieving’ process that they need to engage in to come to terms with an ASD diagnosis, or whether this is something that is missing in such programmes, and which would be additional and, therefore, a change in practice. This is an area in clear need of further investigation to assess the effectiveness of such parent-directed help on the parent and on child outcomes, and to identify the predictors of which parents would benefit from such help.

Diagnostic practice and its impacts

It is these considerations regarding parental stress, and the impacts of parental stress on the child, which may be vital for understanding the importance of the parents’ diagnostic experience for subsequent treatment outcomes, as well as for their own well-being. Clearly, parental stress is extremely high around the time of diagnosis,51 and its level depends, in part, on the parental experiences during the period between first noticing a problem with their child and the diagnosis itself.67 However, there may also be a substantial contribution to parental stress from their diagnostic experiences.27 ,52 ,61

Of course, the exact nature of the diagnostic process will vary from region to region. In the UK, the process of diagnosis will usually be triggered by the parent first noticing a problem, and taking their child to either a general practitioner (or sometimes to an educational psychologist or a special-needs teacher, depending on the context in which the problem is first noticed). The professional will then refer the child to a specialist paediatrician after a variable length of time, depending on how quickly ASD is suspected. At this point, the diagnosis will be made, but may take some time to be confirmed. However, this process may vary dramatically across individuals, and good data on current experiences of parents is critically needed.

It is known that a positive diagnostic experience, one which satisfies the parents’ needs, preferences and information requirements as noted in the recent National Institute for Health and Clinical Excellence guidelines,68 will have a beneficial impact on parents’ reactions to their child's ASD69 and, hence, on their interactions with their child's treatment programme.57 ,60 However, it is also known that communication with professionals has a high risk for producing stress in parents of children with ASD,27 ,51 and a key aspect of this concerns the process of getting a diagnosis.52 ,61 ,70 Critically, if the contact with professionals during diagnosis has been perceived by the parent as being unsatisfactory, this may lead to subsequent treatments undertaken by the child being less effective than they otherwise might have been.28 ,29 ,57

The research, to date, addressing parental experiences during the diagnosis of ASD suggests that parental reactions to the diagnostic process vary greatly across parents71 and across the time since the diagnosis occurred.72 However, there are some indications of the types of issue that do impact on parents during the diagnostic process. Parental satisfaction with the diagnostic process increases with speed of obtaining a diagnosis,26 which is also associated with decreased levels of parental stress.73 The clarity of the diagnosis that is given,26 and the perceived quality of the information provided during the process,74 are also related to parental satisfaction with the diagnostic process. The nature of communication with professionals during diagnosis is also a predictor of parental satisfaction: the fewer professionals that parents need to see in order to obtain a diagnosis the greater their satisfaction;70 similarly, the perceived professionalism of the person giving the diagnosis is related strongly to satisfaction.27 ,72 ,75

Given these findings, issues such as the speed of diagnosis, the chain and coherence of referral through the diagnostic system, the help offered at the time of diagnosis and the communication styles of the professionals, both with the parents and with each other, may all be seen to be important in increasing parental satisfaction and establishing best diagnostic practice. Moreover, all these aspects may impact on parental functioning, which could, in turn, impact on the prognosis for their child's treatment. Of course, direct research assessing these suggestions is needed, but, even in the absence of such research, these are factors that need to be given careful consideration in the physician's reflections about their practice.

It should be noted that although these aspects of the diagnosis process have been highlighted in the literature as being important to parents, most studies suggest that barely 50% of parents of children with ASD are actually satisfied with the diagnostic process.26 ,69 ,76 In fact, it has been found that many parents thought that the diagnostic process was slow, chaotic and badly handled,71 and also that many parents are left with the perceptions that they were given no help or advice following a diagnosis.27 Given these findings, there is a deal of work to do in terms of improving this diagnostic system for parents of children with ASD, especially in the above key areas.

It is also important to note that the factors relating to the diagnostic process that have been noted above, all refer to the speed and clarity of that process once the parent and child are in the diagnostic system. Of course, these are the only aspects that medical practitioners have any control over. However, it should not necessarily be thought that earlier placement into this system, and the faster labelling of the child as having an ASD, will always be helpful. Obviously, parents require clear and professional help for the child's behaviours,70 but do not necessarily regard a simple label of ASD, without corresponding help, as beneficial and, indeed, such labelling without a projected treatment plan can be counterproductive.27 ,67

Although there are a number of overarching issues that clearly emerge from the literature, further work is necessary to explore the complexities of the diagnostic process that may lead to these ‘unsatisfactory’ elements occurring within health services. There may well be differences in the impact of the diagnostic process on parental perceptions and stress between different subgroups of children. For example, those children who require a second opinion, will inevitable have a longer diagnostic process, and these cases are likely to be more complicated for many reasons, including age of the child, and family-professional dynamics. These are all areas in need of further exploration.

Summary and future research

It has been consistently acknowledged that parents play a pivotal role in the prospects for their child with ASD.28 ,29 Importantly, these parents suffer from negative health and poor psychological well-being,42 ,45 which have, in turn, a negative impact on the prospective outcomes for the child with ASD.28 ,47 Many of the early stressors for parents revolve, not only around the symptoms displayed by their children, but also around issues connected to the diagnostic process.26 ,27 However, there has been relatively little research effort devoted to discovering the nature and parental perceptions of current diagnostic practice for ASD and, critically, the impact of these experiences on parental well-being and the subsequent outcomes for their child.

There is clearly a large and under-investigated area in terms of diagnostic best practise for ASD, not only including the actual screening and testing materials selected by professionals, but especially in terms of how the process is conducted, which is in contrast with research conducted in other areas. Moreover, many of the above studies concerning diagnosis for ASD have focused solely on parental perceptions of their own satisfaction with the diagnostic process.26 ,71 While this is clearly an important topic to explore, very few studies have related these perceptions of the diagnosis to the critical concerns regarding parents’ psychological functioning and well-being, such as parenting stress, and no studies have further related such diagnosis-induced parenting stress to subsequent levels of child functioning, which is the essential information needed in this area. In particular, it would be very important to ascertain how parental stress, especially that induced by the diagnostic process, impacted on both externalising (challenging) behaviours, as well as on the internalising (eg, depression) behaviours of the child. As noted above, GPs and paediatricians have limited contact with parents of children with ASD, but that contact has the potential to have strong impacts of subsequent psychosocial treatments of the child and, given this, this is clearly an area in needed of investigation.

In view of these considerations, it is suggested that further work in the area of ASD may best be devoted to two key areas: (1) the diagnostic experiences, and the health and functioning, of parents of newly diagnosed children with ASD and (2) to relate these diagnostic experiences to parental functioning and child behaviour problems. It is further suggested that the specific objectives of such research should be to (1) explore the parents’ experiences of ASD diagnoses; (2) document the functioning of parents of newly diagnosed children with ASD; (3) determine the aspects of diagnoses impacting on parental functioning; (4) analyse the association between diagnostic-related parental functioning (eg, stress) to child outcomes and (5) use the findings to make recommendations on the improvement of diagnostic process to respective governmental authorities who struggle with such problems, both with this population, and also, potentially, with other populations of children with similar challenging behavioural problems.

Such research would provide new information that could impact on knowledge and practice in a number of novel and potentially important domains connected to ASD diagnosis. It could enhance knowledge about ASD diagnosis and its impacts, which is a vital step for making databased suggestions regarding possible diagnostic best practice for ASD; and provide documentation of the health and functioning of parents of children with ASD, and a measure of association between aspects of the diagnostic process and such functioning. These objectives will, ultimately, contribute to current governmental and research demands for evidence-led practice in the diagnosis of ASD, and to involving parents and carers in planning and developing services, creating cost-effective, responsive services that work for families.