568214 research-article2015

APY0010.1177/1039856214568214Australasian PsychiatryAggarwal and Angus

Australasian

Psychiatry

Diagnosis

Misdiagnosis versus missed diagnosis: diagnosing autism spectrum disorder in adolescents

Australasian Psychiatry  ­–4 1 © The Royal Australian and New Zealand College of Psychiatrists 2015 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav DOI: 10.1177/1039856214568214 apy.sagepub.com

Shilpa Aggarwal  Child and Adolescent Psychiatrist, Orygen Youth Health, Parkville, VIC, Australia Beth Angus  Clinical Psychologist, Orygen Youth Health, Parkville, VIC, Australia

Abstract Objective: The diagnosis of children with autism spectrum disorders (ASDs) is sometimes delayed until adolescence. This study tries to identify the symptoms in clients that initiated a referral to an autism team of an early intervention service providing psychiatric care for young people between the ages of 15 and 25 and who subsequently receive a new diagnosis of autism. Methods: Thirty-one ASD assessments were carried out during a period of 3 years in an early intervention service in Australia. An attempt to identify the common presenting symptoms and trends in the referrals for ASD assessment within the service was made. Results: Most common presentation of adolescents getting referred for ASD assessment was with depressive symptoms followed by mixed anxiety and depression and primary psychotic symptoms. There was a significant gender difference, with a higher number of males getting referred for ASD assessment. Conclusion: ASDs can go undetected during childhood and these clients can sometimes present during adolescence to mental health services for a psychiatric comorbidity. Regular training opportunities for clinicians dealing with them could improve the chances of ASDs being picked up during their episode of care at an early intervention service, thus optimizing their management. Keywords:  autism spectrum disorders, adolescence, early intervention service

T

he symptoms associated with autism spectrum disorders (ASDs) appear early in a child’s development. In some cases the diagnosis is missed during the growing up years and a few get referred to mental health services during adolescence for treatment of comorbid psychiatric conditions. Here we are reporting our experience from an early intervention psychiatry service, Orygen Youth Health (OYH). OYH is a public mental health service providing psychiatric care for young people between the ages of 15 and 25 who live in the northwestern region of Melbourne, Australia. It caters to a population of about one million people from diverse sociocultural backgrounds with 500–600 registered clients at any time. There are several specialist clinics within OYH, including the Early Psychosis Prevention and Intervention Centre (an early psychosis service), Personal Assessment and Crisis Evaluation (‘ultra-high risk’ for developing psychosis clinic) and Youth-scope (Youth Mood Clinic and Helping Young People Early (HYPE) clinic for emerging borderline personality disorder). The clinicians in the service consist of psychiatrists, psychologists, nurses, social workers and occupational therapists. More information

about the Orygen service can be obtained from the website, http://www.oyh.org.au. Their case managers referred the clients mentioned in this report for an ASD assessment as their primary psychiatric presentation was complicated by the possibility of an underlying ASD. An assessment for an ASD is important in these situations for a variety of reasons. The presenting picture in these cases is sometimes unclear due to an underlying ASD and leads to diagnostic and management challenges. When a diagnosis of an ASD is made, it helps in tailoring the treatment according to the needs of the clients, helping them with selfunderstanding and gaining the understanding of others. It may also qualify clients for certain supports and services that they may not otherwise have access to.

Corresponding author: Shilpa Aggarwal, Child and Adolescent Psychiatrist, Orygen Research Center, 35 Poplar Road, Parkville, VIC 3052, Australia. Email: [email protected]

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Australasian Psychiatry 

Figure 1.  Screening pathways leading to an autism assessment and diagnosis in Victoria (adapted from autism Victoria). In addition, it plays a part in setting and managing the expectations of the client and family members about the prognosis of the illness. Currently in Victoria, there are various pathways through which an assessment and diagnosis of autism could be reached (Figure 1).

Method and results The case managers referred clients for an ASD assessment after a thorough evaluation, a review by the psychiatry registrar/ consultant and discussion with the treating team members. There are regular training sessions that are conducted at OYH for the clinicians to sensitize them towards these presentations. These sessions consist of interactive training workshops to gain an understanding of the ASDs as developmental disorders, recognition of autistic traits, differentiation of autistic traits from other psychiatric presentations and the kinds of psychiatric comorbidities expected to occur

with these conditions. In addition, learning podcasts on this topic prepared by the experts from the organization are available on the organization’s website for the clinicians to access. An earlier study at OYH found that following specific education and an increased awareness of ASDs, the clinical staff were able to identify 7.8% of young people with autistic traits who may have an ASD but had not been formally assessed.1 The team performing the ASD assessment consisted of two allied health professionals (including a psychologist) and a child and adolescent psychiatrist, trained in the assessment and diagnosis of ASDs. An external speech pathologist was consulted when there were concerns about the quality of the individual’s communicative functioning, which had not been previously assessed. The diagnostic assessments included a comprehensive developmental history obtained from interviews with

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Aggarwal and Angus

Table 1.  Psychiatric symptoms in clients referred for autism spectrum disorder (ASD) assessment Presenting symptoms

Number of clients referred for assessment

Diagnosis confirmed

Diagnosis ruled out

Invalid/inconclusive assessment

Depressive symptoms Mixed anxiety and depressive symptoms Psychotic symptoms (r/t primary psychotic illness) Depressive and manic/hypomanic symptoms (r/t bipolar disorder) Conversion disorder symptoms Generalized anxiety disorder symptoms Obsessive compulsive disorder symptoms Social phobia symptoms No diagnosis

12  6  6

8 3 4

2 3 1

2   1

1



 1  1  1  1  1  2

1 1 1 2

1        

r/t: related to.

the parents or caregivers with a particular emphasis on the developmental milestones, and social, behavioral and adaptive functioning. In addition, an assessment of social competencies and social communication skills was carried out using the Autism Diagnostic Observation Schedule (ADOS).2 Where indicated by the presence of past or current learning difficulties, a formal assessment of intellectual functioning was also completed. The diagnosis was made using Diagnostic and Statistical Manual of Mental Disorders, 4th Edition (DSM IV) criteria for ASDs. Out of the 31 consecutive assessments carried out over 3 years, there were 21 males and 12 females. An ASD was confirmed in 20 of the total clients assessed, ruled out in seven and assessments remained incomplete/inconclusive due to absence of developmental history or client not being cooperative with the whole assessment in four clients (Table 1). This was the first time an autism assessment was performed in 28 of the 31 clients. In three clients, there was a history of an inconclusive assessment in the past. The symptoms with which these clients presented are listed in Table 1.

found to be a substantial comorbidity in psychiatrically referred ASD youth.3 This study found high rates of disruptive disorders and attention deficit hyperactivity disorders in psychiatrically referred ASD youth that we did not find. In our sample, 12% of clients from the total diagnosed positive with an ASD presented with psychotic symptoms. A few studies have investigated the considerable symptomatic overlap between ASDs and schizophrenia spectrum disorders.4,5 A recent cohort-based study found that the presence of both childhood ASDs and autistic traits increased the likelihood of psychotic experiences in early adolescence,6 thus lending more support to a common neurodevelopmental etiological basis for both these conditions. An important finding of this study was increased odds of psychotic experiences by almost threefold in clients with an ASD.

Discussion

One of the most striking features of ASDs is the fact that they are diagnosed around four times more often in boys than in girls.7 There are studies suggesting females are better able to ‘camouflage’ their symptoms8 and this is partly responsible for the gender gap. In our service, the proportion of males to females referred for an autism assessment was 7:4, favoring males. The reduced gender gap in our sample could be because of unmasking of ASDs in the female population of our sample due to presentation to a mental health service with psychiatric symptoms.

The most common presentation of adolescents receiving the diagnosis of ASDs in our service was with depressive symptoms followed by mixed depressive and anxiety symptoms, as well as psychotic symptoms. These findings were similar to another study in which major depressive disorder (MDD) and anxiety disorders were

The available evidence shows that early diagnosis and interventions are more effective as compared to later interventions in ASDs in improving the long-term outcomes.9 The delay in this regard results in huge costs to the clients, families and the systems in which they are served.10 The past studies have found a range of factors

Out of the 20 clients who were diagnosed positive for an ASD, only one had mild intellectual disability and three had language deficits.

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from limited knowledge of physicians, to limited treatment options as being responsible for the delay in diagnosis.11 In our sample, we found factors ranging from the school system not picking up the symptoms, primary care physicians not recognizing the symptoms even after concerns were raised by parents and inadequate access to resources to get help, as being primarily responsible for the missed diagnosis. In addition, the absence of cognitive and language deficits in the majority of our sample could partly explain the delay. A few studies have shown that the presence of such deficits results in earlier diagnosis of ASDs.11 Interestingly, the measures proven to be effective in treating ASDs, such as teaching social skills, incorporating visual aids and family involvement, rewarding treatment compliance and using the child’s reinforcing interests,12 when used during childhood could have a protective influence in preventing psychiatric comorbid conditions during adolescence. This highlights the need for an early diagnosis and treatment in this group of population. This paper shows that despite best efforts to detect and diagnose ASDs in childhood, this condition can go undetected until psychiatric comorbidity brings the young person to the attention of mental health services. In an Australian context, with the advent of early intervention psychiatry services, there are additional service delivery-related implications. Case mangers of these mental health services should be sensitized towards the possibility of the ASD diagnosis being missed during childhood and regular training opportunities for mental health professionals dealing with this population must be provided. The presentation at an early intervention service in these cases could be an opportunity for the missed diagnosis of an ASD to be picked up. In addition, use of screens such as the social communication questionnaire13 or Australian Scale for Asperger Syndrome14 in this population could help in increasing the detection of the missed diagnosis. The recent advent of computer-based diagnostic interview for ASDs might be the future of screening of ASDs at an early intervention service. In our experience, the family members of most of the clients (diagnosed positive for an ASD) who participated in the assessment received the diagnosis with mixed feelings of loss as well as relief. This is similar to an earlier study by Banasch et al.15 in which 52% of parents felt relieved upon hearing their child’s diagnosis of an ASD, 43% felt grief and loss, 29% felt shock or surprise, and 10% felt self-blame. For many of the young people, receiving the diagnosis has helped them to understand their differences in a way that reduces their self-blame and shame.

There are many gaps that need to be filled in the literature and will require prioritizing. More needs to be learned about how to differentiate between features of ASDs and symptoms of a comorbid condition in youth and how we provide interventions that take into account both the ASD and psychiatric comorbidity. Also of interest is how we evaluate the reasons for missed diagnosis during earlier years and the impact on client and family members of receiving the diagnosis later in life. Acknowledgment The authors acknowledge the support of Professor Andrew Chanen, Director of Clinical Services, for making this service available to the clients of OYH.

Disclosure The authors report no conflict of interest. The authors alone are responsible for the content and writing of the paper.

References 1. Fraser R, Cotton S, Gentle E, et  al. Non-expert clinicians’ detection of autistic traits among attenders of a youth mental health service. Early Interv Psychiatr 2012; 6: 83–86. 2. Lord C, Risi S, Lambrecht L, et  al. The Autism Diagnostic Observation Schedule – Generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000; 30: 205–223. 3. Joshi G, Petty C. Wozniak J, et al. The heavy burden of psychiatric comorbidity in youth with autism spectrum disorders: a large comparative study of a psychiatrically referred population. J Autism Dev Disord 2010; 40: 1361–1370. 4. Mouridsen SE, Rich B, Isager T, et al. Psychiatric disorders in individuals diagnosed with infantile autism as children: a case control study. J Psychiatr Pract 2008; 14: 5–12. 5. Esterberg ML, Trotman HD, Brasfield JL, et al. Childhood and current autistic features in adolescents with schizotypal personality disorder. Schizophr Res 2008; 104: 265–273. 6. Sullivan S, Rai D, Golding J, et  al. The association between autism spectrum disorder and psychotic experiences in the Avon longitudinal study of parents and children (ALSPAC) birth cohort. J Am Acad Child Adolesc Psychiatr 2013; 52: 806–814. 7. Whiteley P, Todd L, Carr K, et al. Gender ratios in autism, Asperger syndrome and autism spectrum disorder. Autism Insights 2010; 21: 17–24. 8. Dworzynski K, Ronald A, Bolton P, et  al. How different are girls and boys above and below the diagnostic threshold for autism spectrum disorders? J Am Acad Child Adolesc Psychiatr 2012; 51: 790. 9. Dawson G. Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder. Dev Psychopathol 2008; 20: 775–803. 10. Jacobson J, Mulick J and Green G. Cost-benefit estimates for early intensive behavioral intervention for young children with autism—general model and single state case. Behav Interv 1998; 13: 201–226. 11. Mandell DS, Novak MM and Zubritsky CD. Factors associated with age of diagnosis among children with autism spectrum disorders. Pediatrics 2005; 116: 1480–1486. 12. Lang R, Mahoney R, El Zein F, et al. Evidence to practice: treatment of anxiety in individuals with autism spectrum disorders. Neuropsychiatr Dis Treat 2011; 7: 27–30. 13. Garnett MS and Attwood AJ. Australian scale for Asperger Syndrome (ASAS). 14. Lord C, Rutter M, et al. Social communication questionnaire. 15. Banach M, Iudice J, Conway L, et al. Family support and empowerment: post autism diagnosis support group for parents. Soc Work Groups 2010; 33, 69–83.

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Misdiagnosis versus missed diagnosis: diagnosing autism spectrum disorder in adolescents.

The diagnosis of children with autism spectrum disorders (ASDs) is sometimes delayed until adolescence. This study tries to identify the symptoms in c...
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