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Journal of Child & Adolescent Mental Health Publication details, including instructions for authors and subscription information: http://www.tandfonline.com/loi/rcmh20
Autism spectrum disorders—Global challenges and local opportunities a
a
a
Susan Malcolm-Smith , Michelle Hoogenhout , Natalia Ing , a
Kevin GF Thomas & Petrus de Vries
b
a
ACSENT Laboratory Department of Psychology , University of Cape Town , South Africa b
Division Child and Adolescent Psychiatry , University of Cape Town , South Africa Published online: 31 May 2013.
To cite this article: Susan Malcolm-Smith , Michelle Hoogenhout , Natalia Ing , Kevin GF Thomas & Petrus de Vries (2013) Autism spectrum disorders—Global challenges and local opportunities, Journal of Child & Adolescent Mental Health, 25:1, 1-5, DOI: 10.2989/17280583.2013.767804 To link to this article: http://dx.doi.org/10.2989/17280583.2013.767804
PLEASE SCROLL DOWN FOR ARTICLE Taylor & Francis makes every effort to ensure the accuracy of all the information (the “Content”) contained in the publications on our platform. However, Taylor & Francis, our agents, and our licensors make no representations or warranties whatsoever as to the accuracy, completeness, or suitability for any purpose of the Content. Any opinions and views expressed in this publication are the opinions and views of the authors, and are not the views of or endorsed by Taylor & Francis. The accuracy of the Content should not be relied upon and should be independently verified with primary sources of information. Taylor and Francis shall not be liable for any losses, actions, claims, proceedings, demands, costs, expenses, damages, and other liabilities whatsoever or howsoever caused arising directly or indirectly in connection with, in relation to or arising out of the use of the Content. This article may be used for research, teaching, and private study purposes. Any substantial or systematic reproduction, redistribution, reselling, loan, sub-licensing, systematic supply, or distribution in any form to anyone is expressly forbidden. Terms
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& Conditions of access and use can be found at http://www.tandfonline.com/page/ terms-and-conditions
Journal of Child and Adolescent Mental Health 2013, 25(1): 1–5 Printed in South Africa — All rights reserved
Copyright © NISC Pty Ltd
JOURNAL OF C H I LD & A D O LES C EN T M EN T A L H EA L T H ISSN 1728-0583 EISSN 1728-0591 http://dx.doi.org/10.2989/17280583.2013.767804
Commentary
Downloaded by [Imperial College London Library] at 05:09 10 October 2014
Autism spectrum disorders—Global challenges and local opportunities Susan Malcolm-Smith1, Michelle Hoogenhout1, Natalia Ing1, Kevin GF Thomas1 and Petrus de Vries2 ACSENT Laboratory Department of Psychology, University of Cape Town, South Africa Division Child and Adolescent Psychiatry, University of Cape Town, South Africa *Corresponding author, email: [email protected]
1
2
Global concern regarding the prevalence of Autism Spectrum Disorders (ASD) and awareness of the burden of the disease has increased dramatically over the past decade. There is growing consensus that the worldwide prevalence of ASD is around 1%, making it one of the most common developmental disorders (Baird et al. 2006, Lord and Spence 2006, Fombonne 2009, Matson and LoVullo 2009, Schendel et al. 2012). The disorder presents significant challenges both in terms of our ability to identify and characterise individuals with ASD accurately, and to manage cases appropriately. Factors that may complicate appropriate identification and management of ASD include the complexity of the diagnostic process, and identifying and gaining access to the most relevant evidence-based interventions for an individual with ASD. A key diagnostic challenge is that ASD has no pathognomonic features (Yates and Le Couteur 2009). That is, no single feature on its own will confirm or rule out ASD. According to current diagnostic criteria (ICD-10, World Health Organization 1992, DSM-IV, American Psychiatric Association 2000), individuals with ASD present with qualitative abnormalities in reciprocal social interaction and communication, and stereotyped or repetitive behaviours. Deficits vary markedly across the spectrum, both in their precise nature and in their severity, resulting in a range of very different clinical presentations. Comorbidities such as intellectual disability, epilepsy, sensory difficulties, attention deficit hyperactivity disorder (ADHD), and other psychiatric disorders further complicate the clinical presentation. Individuals with ASD can therefore vary significantly in their need for support, depending on the nature and severity of ASD features, the presence of intellectual disability, and other characteristics (Jarbrink et al. 2007, Knapp, Romeo and Beecham 2009). Numerous interventions targeting, among others, behaviour, speech and language, social skills, and sensory integration have been developed, some with stronger evidence of efficacy than others (Francis 2005, Lord and Bishop 2010). Physicians commonly prescribe psychoactive medications targeting, for example, anxiety, aggression, or attention difficulties, particularly in environments that lack access to non-pharmacological interventions for ASD (Logan et al. 2012, Memari et al. 2012). In combination, the cost of these treatments can be crippling. ASD thus comes with a significant and lifelong burden of cost, for both state and family (Howlin et al. 2004, Rahbar et al. 2012). In the United States and United Kingdom, the family of a child with ASD spends about US$3–5 million dollars more than is required to raise a typically developing child. The US government spends about US$90 billion dollars per annum on ASD (Lord and Bishop 2010). Children on the autism spectrum who have comorbid intellectual disability, epilepsy, or Journal of Child & Adolescent Mental Health is co-published by NISC (Pty) Ltd and Routledge, Taylor & Francis Group
Downloaded by [Imperial College London Library] at 05:09 10 October 2014
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Malcolm-Smith, Hoogenhout, Ing, Thomas and De Vries
ADHD incur twice the costs of those who do not have such comorbidities (Peacock et al. 2012). The cause(s) of ASD remains elusive. Currently, many US and UK research programmes focus on identifying the etiological pathways of ASDs, with a particular emphasis on genetic factors. Weintraub (2011) estimated that in the last decade the US government spent about US$1 billion researching the genetics of autism. Genome-wide linkage studies, candidate gene association studies, and copy number variation studies have identified several rare genetic variants that may be present in certain cases of autism (Yonan et al. 2003, Abrahams and Geschwind 2008, Arieff et al. 2010, Campbell 2010). This research has led to a rethinking of the likely etiological pattern in ASD—it seems unlikely that a single gene (or a small number of genes) underlies ASD; rather, any one of many genes may contribute to the disorder. There is therefore renewed interest in determining whether different underlying genotypes play a causal role in determining different phenotypic presentations (Nicolson and Szatmari 2003, Happe, Ronald and Plomin 2006, Waterhouse 2008, de Vries 2009, Schendel et al. 2012). Phenotypic heterogeneity is highly relevant to current controversies and conversation regarding revisions to the diagnostic criteria, many of which are centred around the long-awaited DSM-V. The main proposal is to move away from clinically unreliable categories such as ‘autism’, ‘Asperger’s syndrome’ and ‘pervasive developmental disorder not otherwise specified (PDD-NOS)’ to a single diagnostic category of ‘autism spectrum disorder’ (Lord and Jones 2012). The other current DSM subtypes (Rett’s Disorder, and Childhood Disintegrative Disorder) are also under review: the specific genetic cause of Rett’s has been identified (Amir et al. 1999), and CDD is exceedingly rare (Lord and Jones 2012). Within this single ASD category, there will be several specifiers to describe the individual profile and clinical needs of each case. If implemented, this move will increase the need to identify and characterise the profile of each individual on the autism spectrum accurately, and to tailor educational placement and therapeutic intervention specifically for each child, adolescent, and adult with ASD. How to do this successfully will set new challenges to the field, even in well-resourced high-income countries. ASD in South Africa Data on the incidence, prevalence, and impact of ASD in South Africa are almost entirely lacking. No epidemiological studies of ASD have been conducted in the country. Diagnostic and intervention services, particularly at state level, are scarce. Hence, those that are in place are heavily overburdened. Standardised assessment tools, available in multiple languages, are not available. Of particular concern for South Africa, are research findings from the global north indicating that ASD is under-identified in low socio-economic status communities: In these contexts, ASD often goes undiagnosed, or is diagnosed late. Furthermore, doctors may not refer cases from disadvantaged communities for assessment, due to lack of available services, compounding lack of care (Baird et al. 2006, Lord and Bishop 2010, Pedersen et al. 2012, Schendel et al. 2012). Even if identification and diagnosis of ASD improved in South African communities, few services are available to assist families. Therapeutic interventions and appropriate school placement are needed to avoid diagnosis being nothing more than ‘bad news’ (Oosterling et al. 2009, Lord and Bishop 2010, Pedersen et al. 2012). In South Africa access to intervention and education are still significant challenges, with few specialist schools and limited expertise about ASD across the health, education, and social care sectors. Recently, there have been increased efforts to develop local capacity. For example, training in the international gold standard diagnostic tool, the Autism Diagnostic Observation Schedule (ADOS, Lord et al. 2001), has been made available at the last two conferences of the South African Association of Child and Adolescent Psychiatry and Allied Professionals, and regular training on the ADOS and ADI-R (Autism Diagnostic Interview-Revised; Lord, Rutter and Le Couteur 1994) is planned. A group at the University of KwaZulu Natal is translating and validating the ADOS for Zulu-speaking families (Grinker et al. 2012). Work to improve access to services is also beginning. Clinical researchers at the University of
Downloaded by [Imperial College London Library] at 05:09 10 October 2014
Journal of Child and Adolescent Mental Health 2013, 25(1): 1–5
3
Cape Town (UCT) are investigating if the Early Start Denver Model, an Applied Behavior Analysis and Pivotal Response Training-based intervention for children under 5 years (Dawson et al. 2010), is a helpful, appropriate, and cost-effective early intervention programme in a South African context. This model involves parents in delivering interventions, thus avoiding the costly one-onone intervention models, developed in high-income countries, which most South African families cannot sustain. Also at UCT, researchers are translating and validating early screening tools for ASD for use in community settings. The growing interdisciplinary interest in ASD across clinical and academic groups is certainly encouraging. UCT has recently established a Centre for Autism Research in Africa. The goal of the Centre is to gather an interdisciplinary team of researchers to drive work in this field. The team includes developmental paediatricians and psychiatrists, neuropsychologists, and clinical psychologists. We aim to promote collaboration and the development of local capacity, not only in the Western Cape, but across South Africa and into other African countries. Where to start ASD research in South Africa and which questions to address are crucial issues, as both the challenges and opportunities are numerous. Our potential to contribute to international knowledge is great. For instance, most ASD research to date has used Caucasian families from high-income communities (Szatmari et al. 2007, Hilton et al. 2010). The cultural and genetic variability present in South Africa could therefore provide untold detail in the search for genetic causes and the detailing of behavioural phenotypes. To ensure that South Africa and Africa can participate fully in the range of exciting research opportunities that will emerge, it is critical to start with some of the fundamentals. The Centre is therefore prioritising the establishment of reliable and valid tools for screening and diagnosis in our context, and developing local expertise in using these tools. Only when these basics are in place will we be ready to expand our programmes into aspects of epidemiology, genetics, and so on. We aim to build a network of collaborators across the region that merges expertise from a variety of disciplines. Our goal is to produce internationally competitive work that is meaningful in the African context. To do so, we shall integrate research, clinical work, training and advocacy, with the hope of benefitting those with ASD, their families, and their communities. The task is important but vast. We would therefore like to encourage any clinical scientist with an interest in ASD to join us in building an autism network in South Africa. Acknowledgments — We acknowledge the founder members of the Centre for Autism Research in Africa: Colleen Adnams, Petrus de Vries, Kirsty Donald, Loren Leclezio, Susan Malcolm-Smith, Noleen Seris, Nokuthula Shabalala, Kevin Thomas, and Wendy Vogel.
References Abrahams BS, Geschwind DH. 2008. Advances in autism genetics: on the threshold of a new neurobiology. Nature Reviews Genetics 9: 341–355. American Psychiatric Association. 2000. Diagnostic and statistical manual of mental disorders (4th edn, text revised). Washington: American Psychiatric Association. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics 23: 185–188. Arieff Z, Kaur M, Gameeldien H, Van der Merwe L, Bajic VB. 2010. 5-HTTLPR polymorphism: Analysis in South African autistic individuals. Human Biology 82: 291–300. Baird G, Simonoff E, Pickles A, Chandler S, Loucas T, Meldrum D, Charman T. 2006. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: The Special Needs and Autism Project (SNAP). Lancet 368: 210–215. Campbell DB. 2010. Advances and challenges in the genetics of autism. Focus 8: 339–349. Dawson G, Rogers S, Munson J, Smith M, Winter J, Greenson J, Donaldson A, Varley J. 2010. Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model. Pediatrics 125: e17–23. De Vries PJ. 2009. Genetics and neuropsychiatric disorders: Genome-wide, yet narrow. Nature Medicine 15: 850–851.
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Fombonne E. 2009. Epidemiology of pervasive developmental disorders. Pediatric Research 65: 591–598. Francis K. 2005. Autism interventions: a critical update. Developmental Medicine and Child Neurology 47: 493–499. Grinker RR, Chambers N, Njongwe N, Lagman AE, Guthrie W, Stronach S, Richard BO, Kauchali S, Killian B, Chhagan M et al. 2012. “Communities” in community engagement: Lessons learned from autism research in South Korea and South Africa. Autism Research 5: 201–210. Happe F, Ronald A, Plomin R. 2006. Time to give up on a single explanation for autism. Nature Neuroscience 9: 1218–1220. Hilton C, Fitzgerald R, Jackson K, Maxim R, Bosworth C, Shattuck P, Geschwind D, Constantino J et al. 2010. Brief report: Under-representation of African Americans in autism genetic research: A rationale for inclusion of subjects representing diverse family structures. Journal of Autism and Developmental Disorders 40: 633–639. Howlin P, Goode S, Hutton J, Rutter M. 2004. Adult outcome for children with autism. Journal of Child Psychology and Psychiatry 45: 212–229. Jarbrink K, McCrone P, Fombonne E, Zanden H, Knapp M. 2007. Cost-impact of young adults with high-functioning autistic spectrum disorder. Research in Developmental Disabilities 28: 94–104. Knapp M, Romeo R, Beecham J. 2009. Economic cost of autism in the UK. Autism 13: 317–336. Logan SL, Nicholas JS, Carpenter LA, King LB, Garrett-Mayer E, Charles JM. 2012. High prescription drug use and associated costs among Medicaid-eligible children with autism spectrum disorders identified by a population-based surveillance network. Annals of Epidemiology 22: 1–8. Lord C, Spence S. 2006. Autism spectrum disorders: Phenotype and diagnosis. In: Moldin SO, Rubenstein JLR (eds), Understanding autism: From basic neuroscience to treatment. Boca Raton, Florida: CRC Press. pp 1–23. Lord C, Bishop SL. 2010. Autism Spectrum Disorders: Diagnosis, prevalence and services for children and families. Social Policy Report 24: 1–21. Lord C, Jones RM. 2012. Annual Research Review: Re-thinking the classification of autism spectrum disorders. Journal of Child Psychology and Psychiatry 53: 490–509. Lord C, Rutter M, Le Couteur A. 1994. Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. Journal of Autism and Developmental Disorders 24: 659–685. Lord C, Rutter M, DiLavore PC, Risi S. 2001. Autism Diagnostic Observation Schedule (ADOS) manual. Los Angeles, California: Western Psychological Services. Matson JL, LoVullo SV. 2009. Trends and topics in autism spectrum disorders research. Research in Autism Spectrum Disorders 3: 252–257. Memari AH, Ziaee V, Beygi S, Moshayedi P, Mirfazeli FS. 2012. Overuse of psychotropic medications among children and adolescents with autism spectrum disorders: perspective from a developing country. Research in Developmental Disabilities 33: 563–569. Nicolson R, Szatmari P. 2003. Genetic and neurodevelopmental influences in autistic disorder. Canadian Journal of Psychiatry 48: 526–537. Oosterling IJ, Wensing M, Swinkels SH, van der Gaag RJ, Visser JC, Woudenberg T, Minderaa R, Steenhuis MP, Buitelaar JK. 2009. Advancing early detection of autism spectrum disorder by applying an integrated two-stage screening approach. Journal of Child Psychology and Psychiatry 51: 250–258. Peacock G, Amendah D, Ouyang L, Grosse S. D. 2012. Autism spectrum disorders and health care expenditures: the effects of co-occurring conditions. Journal of Developmental and Behavioral Pediatrics 33: 2–8. Pedersen A, Pettygrove S, Meaney FJ, Mancilla K, Gotschall K, Kessler DB, Grebe TA, Cunniff C. 2012. Prevalence of autism spectrum disorders in Hispanic and non-Hispanic white children. Pediatrics 129: e629–635. Rahbar MH, Samms-Vaughan M, Loveland KA, Pearson DA, Bressler J, Chen Z, Ardjomand-Hessabi M, Shakespeare-Pellington S, Grove ML, Beecher C et al. 2012. Maternal and paternal age are jointly associated with childhood autism in Jamaica. Journal of Autism & Developmental Disorders 42: 1928–1938. Schendel DE, Diguiseppi C, Croen LA, Fallin MD, Reed PL, Schieve LA, Wiggins LD, Daniels J, Grether J, Levy SE, et al. 2012. The Study to Explore Early Development (SEED): A multisite epidemiologic study of autism by the Centers for Autism and Developmental Disabilities Research and Epidemiology (CADDRE) Network. Journal of Autism and Developmental Disorders 42: 2120–2140. Szatmari P, Paterson AD, Zwaigenbaum L, Roberts W, Brian J, Liu XQ, Vincent JB, Skaug JL, Thompson AP, Senman L, et al. 2007. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics 39: 319–328. Waterhouse L. 2008. Autism overflows: increasing prevalence and proliferating theories. Neuropsychology
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Review 18: 273–286. Weintraub K. 2011. The prevalence puzzle: Autism counts. Nature 479: 22–24. World Health Organization. 1992. The ICD-10 Classifications of Mental and Behavioural Disorders: Clinical Descriptions and Diagnostic Guidelines. Geneva: World Health Organization. Yates K, Le Couteur A. 2009. Diagnosing autism. Paediatrics and Child Health 19: 55–59. Yonan AL, Alarcón M, Cheng R, Magnusson PKE, Spence SJ, Palmer AA, Grunn A, Hank Juo S-H, Terwilliger JD, Liu, J, et al. 2003. A genomewide screen of 345 families for autism-susceptibility loci. The American Journal of Human Genetics 73: 886–897.
Journal of Child & Adolescent Mental Health Publication details, including instructions for authors and subscription information: http://www.tandfonline.com/loi/rcmh20
Autism spectrum disorders—Global challenges and local opportunities a
a
a
Susan Malcolm-Smith , Michelle Hoogenhout , Natalia Ing , a
Kevin GF Thomas & Petrus de Vries
b
a
ACSENT Laboratory Department of Psychology , University of Cape Town , South Africa b
Division Child and Adolescent Psychiatry , University of Cape Town , South Africa Published online: 31 May 2013.
To cite this article: Susan Malcolm-Smith , Michelle Hoogenhout , Natalia Ing , Kevin GF Thomas & Petrus de Vries (2013) Autism spectrum disorders—Global challenges and local opportunities, Journal of Child & Adolescent Mental Health, 25:1, 1-5, DOI: 10.2989/17280583.2013.767804 To link to this article: http://dx.doi.org/10.2989/17280583.2013.767804
PLEASE SCROLL DOWN FOR ARTICLE Taylor & Francis makes every effort to ensure the accuracy of all the information (the “Content”) contained in the publications on our platform. However, Taylor & Francis, our agents, and our licensors make no representations or warranties whatsoever as to the accuracy, completeness, or suitability for any purpose of the Content. Any opinions and views expressed in this publication are the opinions and views of the authors, and are not the views of or endorsed by Taylor & Francis. The accuracy of the Content should not be relied upon and should be independently verified with primary sources of information. Taylor and Francis shall not be liable for any losses, actions, claims, proceedings, demands, costs, expenses, damages, and other liabilities whatsoever or howsoever caused arising directly or indirectly in connection with, in relation to or arising out of the use of the Content. This article may be used for research, teaching, and private study purposes. Any substantial or systematic reproduction, redistribution, reselling, loan, sub-licensing, systematic supply, or distribution in any form to anyone is expressly forbidden. Terms
Downloaded by [Imperial College London Library] at 05:09 10 October 2014
& Conditions of access and use can be found at http://www.tandfonline.com/page/ terms-and-conditions
Journal of Child and Adolescent Mental Health 2013, 25(1): 1–5 Printed in South Africa — All rights reserved
Copyright © NISC Pty Ltd
JOURNAL OF C H I LD & A D O LES C EN T M EN T A L H EA L T H ISSN 1728-0583 EISSN 1728-0591 http://dx.doi.org/10.2989/17280583.2013.767804
Commentary
Downloaded by [Imperial College London Library] at 05:09 10 October 2014
Autism spectrum disorders—Global challenges and local opportunities Susan Malcolm-Smith1, Michelle Hoogenhout1, Natalia Ing1, Kevin GF Thomas1 and Petrus de Vries2 ACSENT Laboratory Department of Psychology, University of Cape Town, South Africa Division Child and Adolescent Psychiatry, University of Cape Town, South Africa *Corresponding author, email: [email protected]
1
2
Global concern regarding the prevalence of Autism Spectrum Disorders (ASD) and awareness of the burden of the disease has increased dramatically over the past decade. There is growing consensus that the worldwide prevalence of ASD is around 1%, making it one of the most common developmental disorders (Baird et al. 2006, Lord and Spence 2006, Fombonne 2009, Matson and LoVullo 2009, Schendel et al. 2012). The disorder presents significant challenges both in terms of our ability to identify and characterise individuals with ASD accurately, and to manage cases appropriately. Factors that may complicate appropriate identification and management of ASD include the complexity of the diagnostic process, and identifying and gaining access to the most relevant evidence-based interventions for an individual with ASD. A key diagnostic challenge is that ASD has no pathognomonic features (Yates and Le Couteur 2009). That is, no single feature on its own will confirm or rule out ASD. According to current diagnostic criteria (ICD-10, World Health Organization 1992, DSM-IV, American Psychiatric Association 2000), individuals with ASD present with qualitative abnormalities in reciprocal social interaction and communication, and stereotyped or repetitive behaviours. Deficits vary markedly across the spectrum, both in their precise nature and in their severity, resulting in a range of very different clinical presentations. Comorbidities such as intellectual disability, epilepsy, sensory difficulties, attention deficit hyperactivity disorder (ADHD), and other psychiatric disorders further complicate the clinical presentation. Individuals with ASD can therefore vary significantly in their need for support, depending on the nature and severity of ASD features, the presence of intellectual disability, and other characteristics (Jarbrink et al. 2007, Knapp, Romeo and Beecham 2009). Numerous interventions targeting, among others, behaviour, speech and language, social skills, and sensory integration have been developed, some with stronger evidence of efficacy than others (Francis 2005, Lord and Bishop 2010). Physicians commonly prescribe psychoactive medications targeting, for example, anxiety, aggression, or attention difficulties, particularly in environments that lack access to non-pharmacological interventions for ASD (Logan et al. 2012, Memari et al. 2012). In combination, the cost of these treatments can be crippling. ASD thus comes with a significant and lifelong burden of cost, for both state and family (Howlin et al. 2004, Rahbar et al. 2012). In the United States and United Kingdom, the family of a child with ASD spends about US$3–5 million dollars more than is required to raise a typically developing child. The US government spends about US$90 billion dollars per annum on ASD (Lord and Bishop 2010). Children on the autism spectrum who have comorbid intellectual disability, epilepsy, or Journal of Child & Adolescent Mental Health is co-published by NISC (Pty) Ltd and Routledge, Taylor & Francis Group
Downloaded by [Imperial College London Library] at 05:09 10 October 2014
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Malcolm-Smith, Hoogenhout, Ing, Thomas and De Vries
ADHD incur twice the costs of those who do not have such comorbidities (Peacock et al. 2012). The cause(s) of ASD remains elusive. Currently, many US and UK research programmes focus on identifying the etiological pathways of ASDs, with a particular emphasis on genetic factors. Weintraub (2011) estimated that in the last decade the US government spent about US$1 billion researching the genetics of autism. Genome-wide linkage studies, candidate gene association studies, and copy number variation studies have identified several rare genetic variants that may be present in certain cases of autism (Yonan et al. 2003, Abrahams and Geschwind 2008, Arieff et al. 2010, Campbell 2010). This research has led to a rethinking of the likely etiological pattern in ASD—it seems unlikely that a single gene (or a small number of genes) underlies ASD; rather, any one of many genes may contribute to the disorder. There is therefore renewed interest in determining whether different underlying genotypes play a causal role in determining different phenotypic presentations (Nicolson and Szatmari 2003, Happe, Ronald and Plomin 2006, Waterhouse 2008, de Vries 2009, Schendel et al. 2012). Phenotypic heterogeneity is highly relevant to current controversies and conversation regarding revisions to the diagnostic criteria, many of which are centred around the long-awaited DSM-V. The main proposal is to move away from clinically unreliable categories such as ‘autism’, ‘Asperger’s syndrome’ and ‘pervasive developmental disorder not otherwise specified (PDD-NOS)’ to a single diagnostic category of ‘autism spectrum disorder’ (Lord and Jones 2012). The other current DSM subtypes (Rett’s Disorder, and Childhood Disintegrative Disorder) are also under review: the specific genetic cause of Rett’s has been identified (Amir et al. 1999), and CDD is exceedingly rare (Lord and Jones 2012). Within this single ASD category, there will be several specifiers to describe the individual profile and clinical needs of each case. If implemented, this move will increase the need to identify and characterise the profile of each individual on the autism spectrum accurately, and to tailor educational placement and therapeutic intervention specifically for each child, adolescent, and adult with ASD. How to do this successfully will set new challenges to the field, even in well-resourced high-income countries. ASD in South Africa Data on the incidence, prevalence, and impact of ASD in South Africa are almost entirely lacking. No epidemiological studies of ASD have been conducted in the country. Diagnostic and intervention services, particularly at state level, are scarce. Hence, those that are in place are heavily overburdened. Standardised assessment tools, available in multiple languages, are not available. Of particular concern for South Africa, are research findings from the global north indicating that ASD is under-identified in low socio-economic status communities: In these contexts, ASD often goes undiagnosed, or is diagnosed late. Furthermore, doctors may not refer cases from disadvantaged communities for assessment, due to lack of available services, compounding lack of care (Baird et al. 2006, Lord and Bishop 2010, Pedersen et al. 2012, Schendel et al. 2012). Even if identification and diagnosis of ASD improved in South African communities, few services are available to assist families. Therapeutic interventions and appropriate school placement are needed to avoid diagnosis being nothing more than ‘bad news’ (Oosterling et al. 2009, Lord and Bishop 2010, Pedersen et al. 2012). In South Africa access to intervention and education are still significant challenges, with few specialist schools and limited expertise about ASD across the health, education, and social care sectors. Recently, there have been increased efforts to develop local capacity. For example, training in the international gold standard diagnostic tool, the Autism Diagnostic Observation Schedule (ADOS, Lord et al. 2001), has been made available at the last two conferences of the South African Association of Child and Adolescent Psychiatry and Allied Professionals, and regular training on the ADOS and ADI-R (Autism Diagnostic Interview-Revised; Lord, Rutter and Le Couteur 1994) is planned. A group at the University of KwaZulu Natal is translating and validating the ADOS for Zulu-speaking families (Grinker et al. 2012). Work to improve access to services is also beginning. Clinical researchers at the University of
Downloaded by [Imperial College London Library] at 05:09 10 October 2014
Journal of Child and Adolescent Mental Health 2013, 25(1): 1–5
3
Cape Town (UCT) are investigating if the Early Start Denver Model, an Applied Behavior Analysis and Pivotal Response Training-based intervention for children under 5 years (Dawson et al. 2010), is a helpful, appropriate, and cost-effective early intervention programme in a South African context. This model involves parents in delivering interventions, thus avoiding the costly one-onone intervention models, developed in high-income countries, which most South African families cannot sustain. Also at UCT, researchers are translating and validating early screening tools for ASD for use in community settings. The growing interdisciplinary interest in ASD across clinical and academic groups is certainly encouraging. UCT has recently established a Centre for Autism Research in Africa. The goal of the Centre is to gather an interdisciplinary team of researchers to drive work in this field. The team includes developmental paediatricians and psychiatrists, neuropsychologists, and clinical psychologists. We aim to promote collaboration and the development of local capacity, not only in the Western Cape, but across South Africa and into other African countries. Where to start ASD research in South Africa and which questions to address are crucial issues, as both the challenges and opportunities are numerous. Our potential to contribute to international knowledge is great. For instance, most ASD research to date has used Caucasian families from high-income communities (Szatmari et al. 2007, Hilton et al. 2010). The cultural and genetic variability present in South Africa could therefore provide untold detail in the search for genetic causes and the detailing of behavioural phenotypes. To ensure that South Africa and Africa can participate fully in the range of exciting research opportunities that will emerge, it is critical to start with some of the fundamentals. The Centre is therefore prioritising the establishment of reliable and valid tools for screening and diagnosis in our context, and developing local expertise in using these tools. Only when these basics are in place will we be ready to expand our programmes into aspects of epidemiology, genetics, and so on. We aim to build a network of collaborators across the region that merges expertise from a variety of disciplines. Our goal is to produce internationally competitive work that is meaningful in the African context. To do so, we shall integrate research, clinical work, training and advocacy, with the hope of benefitting those with ASD, their families, and their communities. The task is important but vast. We would therefore like to encourage any clinical scientist with an interest in ASD to join us in building an autism network in South Africa. Acknowledgments — We acknowledge the founder members of the Centre for Autism Research in Africa: Colleen Adnams, Petrus de Vries, Kirsty Donald, Loren Leclezio, Susan Malcolm-Smith, Noleen Seris, Nokuthula Shabalala, Kevin Thomas, and Wendy Vogel.
References Abrahams BS, Geschwind DH. 2008. Advances in autism genetics: on the threshold of a new neurobiology. Nature Reviews Genetics 9: 341–355. American Psychiatric Association. 2000. Diagnostic and statistical manual of mental disorders (4th edn, text revised). Washington: American Psychiatric Association. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. 1999. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics 23: 185–188. Arieff Z, Kaur M, Gameeldien H, Van der Merwe L, Bajic VB. 2010. 5-HTTLPR polymorphism: Analysis in South African autistic individuals. Human Biology 82: 291–300. Baird G, Simonoff E, Pickles A, Chandler S, Loucas T, Meldrum D, Charman T. 2006. Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: The Special Needs and Autism Project (SNAP). Lancet 368: 210–215. Campbell DB. 2010. Advances and challenges in the genetics of autism. Focus 8: 339–349. Dawson G, Rogers S, Munson J, Smith M, Winter J, Greenson J, Donaldson A, Varley J. 2010. Randomized, controlled trial of an intervention for toddlers with autism: the Early Start Denver Model. Pediatrics 125: e17–23. De Vries PJ. 2009. Genetics and neuropsychiatric disorders: Genome-wide, yet narrow. Nature Medicine 15: 850–851.
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