Autism is characterised by severe problems in communication and behaviour. There is also an inability to relate to people in a normal way. It can be complicated by limited sets of repeated behaviours and an obsessive resistance to change when in familiar surroundings. All of this presents before 36 months of age.^1,2 Autism was put centre stage when the WHO held its international conference on autism in Ireland in April 2013.

Diagnosis

Significant changes have been proposed within the Diagnostic and Statistical Manual – fifth edition (DSM-V)³ in relation to the classification of the condition. The DSM-V, which came into effect in 2013, states that because autism is defined behaviourally, by a common set of indicators, it is best represented as a ‘single diagnostic category’ that is adapted to each individual’s clinical presentation. A ‘single spectrum’ disorder will now be diagnosed based on the presence of four criteria: 

• Persistent deficits in social communication and social interaction across contexts
• Restricted, repetitive patterns of behaviour, interests or activities
• Symptoms must be present in early childhood 
• Symptoms together limit and impair everyday functioning.  

Furthermore, diagnosis on the spectrum will be accompanied by a severity level for autistic spectrum disorders. Three levels describe severity of symptomatology including:

• Requiring support (level 1) 
• Requiring substantial support (level 2) 
• Requiring very substantial support (level 3).

Importantly, language impairment or delay is not a necessary criterion for diagnosis of autism spectrum disorder, and this will impact on the diagnosis of Asperger syndrome. Under the newly proposed criteria above, “anyone who shows the Asperger-type pattern of good language and IQ, but significantly impaired social communication and repetitive/restricted behaviour and interests, who might previously have been given the Asperger disorder diagnosis, should now meet criteria for autism spectrum disorder, and be described dimensionally,” as above.³

Screening

The American Academy of Paediatrics recommends that routine screening for autism starts at 18 months;⁴ screening in Ireland is more haphazard. Children with autism are not typically diagnosed before five years of age and this can delay access to effective intervention and impact on outcomes for children and their families. The average age for diagnosis of autism is 5.5 years.⁵ However, most parents notice the signs of autism by 18 months.⁵ There is evidence showing the benefits of early diagnosis and intervention. Toddlers (18-30 months) who are diagnosed early do better than those diagnosed with autism later.⁶

Because autism is a heterogeneous disorder of development, it can be challenging to identify the actual symptoms of the condition at a very young age. For example, stereotypies may be rare under the age of two years and specific language and communication criteria for the condition may not be developmentally appropriate at such a young age. It is suggested that because the specific symptoms of the ‘standard definition’ of autism may not become more obvious until closer to 36 months, specific indicators need to be provided to parents and first-line professionals in order to identify signs that can predict an earlier diagnosis of autism in those 18-36 months.⁷ 

It is suggested then that the dissemination of early detection instruments specifically to identify those with autism between 18 and 36 months would be of enormous value. This would be alongside adequate training in the use of these instruments for GPs, area medical officers and public health nurses. 

There are some opportunities for health screening in Ireland for those aged 18-36 months. These include:

• The GP – opportunistic health screening at vaccination or ill-health consults
• The public health nurse – nine, 18 and 24-month developmental checks
• Area medical officer – referral from PHN or families with previous children on the autism spectrum.

Recent studies have shown that primary care health practitioners do not have knowledge on the best current diagnostic practices in autism and that this ultimately impairs treatment efficacy and leads to increased economic and health burdens.⁸

Early screening tools

There are many tools currently in use in diagnosing autism in those of 18-36 months of age. We recommend the ‘BISCUIT’ questionnaires, parts 1, 2, 3 (Baby and Infant Scale for Children with Autism Traits)⁹ for assessing toddlers aged 17-37 months and the ‘POEMS’ (Parent Observation of Early Marker Scale)¹⁰ for infants and toddlers aged 1-24 months deemed ‘at risk’, because they have an older sibling with an autism spectrum disorder. For GPs interested in assessing children with autism there is really a paucity of training opportunities available. 

The average waiting time for referral is currently nine to 18 months depending on the geographical region. This 18-month wait for review and possibly a further wait of six to 12 months for a diagnosis is a very difficult time for parents.⁸

Improvement in early diagnosis of autism could be demonstrated if primary care professionals were further equipped with knowledge of key indicators through exposure to such screening tools. If these instruments were administered routinely during general health screening, GP visits or routine developmental checks, greater detection of the early symptoms, along with parent training and early intervention, could improve prognosis. It has been shown that characteristic emerging symptoms of the condition can be evident at a very young age.⁶ Both the BISCUIT and POEMS questionnaires contain items that measure first indication of the following problems:

• Delayed or abnormal speech development
• Impaired or absent joint attention response/initiation
• Difficulties understanding pretend play activity
• Avoidance of eye contact
• Abnormal affect or responses to social situations
• Lack of interest in peers
• Poor responding to name
• Limited non-verbal communication, such as gestures. 

Many of these symptoms may present during the early stages of development before more apparent abnormalities in language development and social skills emerge, and are sometimes noted as signals of abnormal development by concerned parents. Furthermore, both screening instruments (POEMS and BISCUIT) contain items that reflect indicators for an immediate evaluation including: absence of babbling or gesturing by 12 months of age; single words not spoken by 16 months of age; two-word phrases absent by 24 months of age; hyper- or hypo-reactivity; and presence of sleep or feeding problems.^9,10

It is imperative that primary care professionals are knowledgeable and cognisant of the early presentation of this disorder to improve immediate detection, intervention and diagnosis.

Interventions

There is no consensus among many professionals as to which therapy is best. Each therapy may have to match the particular child and use the availability of local expertise. There are so many different therapy modalities available. It can be a daunting task for parents to decipher what is ‘best treatment’ when so many different treatment approaches exist. It is not surprising to find that parents will often implement numerous treatment approaches, over time or concurrently, across their child’s development. 

Goin-Kochel et al surveyed 479 parents of children with autistic spectrum disorder in the US to determine the various treatment approaches ‘tried out’ by families. ¹¹ The therapies ranged from pharmacological, diet changes, behavioural/educational and alternative therapies. Overall, children had been exposed to an average of seven to nine therapies, and were currently using between four and six.¹¹

It is imperative that primary care professionals are knowledgeable in what approaches to the treatment of autism hold a scientific basis and are endorsed by professional bodies. Indeed, GPs, area medical officers and public health nurses can play a crucial role in recommending evidence-based interventions that will ensure effective early intervention and outcomes. 

Background and evidence base to common interventions 

Applied behaviour analysis (ABA) 

Applied behaviour analysis largely involves positive reinforcement of behaviour and is sometimes delivered in an intensive one-to-one, student to teacher ratio. An international accreditation body now exists that specifies qualifications, training requirements and ongoing professional development for those who deliver ABA therapy. 

Many specific behavioural curricula and intervention strategies have been developed within the science. Skills are broken down, practised and shaped through reinforcement using very specific interventions. New repertoires are taught gradually within a ‘spiral’ approach, with emphasis on data collection, mastery and fluency learning. Behaviour is modified over time and the evidence supporting its use is strong across all degrees of the autism spectrum.¹²

Increasingly, ABA has become internationally recognised as the leading scientific and empirically driven approach to the treatment of autism spectrum disorder. The US Surgeon General endorsed ABA-based interventions in 1999 (US Public Health Service, 1999) and the recent Autism Treatment Acceleration Act passed in North America legally requires that health insurers cover the cost of applied behaviour analysis intervention as a therapy for children diagnosed with the condition.

GFDF diet 

A gluten-free dairy-free diet (GFDF diet) eliminates dietary intake of the naturally occurring proteins gluten (found in wheat, barley, rye and commercially available oats) and casein (found in milk and dairy products). The theory is that poor digestion in some children with autism may lead to the formation of natural opiates, which in turn can cause increased gastrointestinal (GI) disturbance and psychological/behavioural issues. 

Mulloy et al provide an extensive scientific review of studies using gluten-free and casein-free (GFCF) diets and conclude that there is a lack of empirical support for this intervention with many adverse consequences associated with these diets.¹³ The authors argue that GFCF diets should only be implemented in line with medical confirmation for allergies or food intolerance and acute behavioural problems correlated with dietary changes.  

Relationship development intervention (RDI)

Relationship development intervention is a parent-based therapy based on friendship, empathy and the shared experience with others and relating this back to behaviour.¹⁴

Recent research has shown that integrating a relationship-focused developmental model based on an RDI approach, with the well validated teaching practices of applied behaviour analysis, has demonstrated effective outcomes in autism intervention.¹⁵

Causes of autism?

As to the causes of autism, there are as many theories as there are stars in the sky. Genetics, prenatal events, developmental events in the brain, perinatal events, postnatal events, and the vaccine debate that has recently been put to bed. A quick view online can update any interested party on the whole range of current theory. The simple fact is that evidence for any definite trigger is lacking. 

Nowadays, it is generally accepted by most researchers and practitioners that a genetic predisposition may act as an underlying factor in risk and diagnosis. Evidence for this lies in sibling studies. A 4-10% risk for the disorder has been shown for younger siblings of a named case and identical twins have a 92% likelihood of having autism spectrum disorder compared with fraternal twins, who have up to a 10% risk for sharing the disorder.¹⁶

A role for general practice?

Should we have mandatory GP screening at 18 months? Should GPs train in these tools (BISCUIT and POEMS questionnaires) and their uses? A screening tool may take up to 30 minutes to administer. Many families do not attend for developmental screening checks and those who do may well be those who are problem-free. Denial, poor social/economic status and language and social isolation may be barriers to attending for screening. Could these populations be picked up in general practice consultations and should general practice have a remunerated role at 18 months to screen all children for autism? Clearly, training in the use of these early screening tools would need to be provided.

Early diagnosis and intervention have long-term health benefits, and late diagnosis causes poorer outcomes and stress and disillusionment for parents with health services. Could general practice be the missing link and, if so, could general practice absorb this into such a congested current workload?

References

1. World Health Organization. International Classification of Diseases. a. 10th Revision. Geneva, Switzerland: World Health Organization; 1994
2. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 4th edition. Washington, DC: American Psychiatric Association; 1994
3. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders. 5th edition. Washington, DC: American Psychiatric Association; 2013
4. The American Academy of Pediatrics: Council on Children With Disabilities, Section on Developmental Behavioral Pediatrics, Bright Futures Steering Committee, Medical Home Initiatives for Children with Special Needs Project Advisory Committee: Identifying Infants and Young Children With Developmental Disorders in the Medical Home: An Algorithm for developmental Surveillance and Screening. Paediatrics 2006 (July); 108: 405-420
5. Howlin P, Asgharian A. The diagnosis of autism and Asperger syndrome; findings from a survey of 770 families. Developmental Medicine & Child Neurology 2007 41(12).
6. Dawson G, Rogers S, Munson J, Smith M, et al. Randomized, controlled trial of an intervention for toddlers with autism: The Early Start Denver Model. Pediatrics 2010 (Jan); 125(1):e17-23
7. Guinchat V et al. Very early signs of autism reported by parents include many concerns not specific to autism criteria. Research in Autism Spectrum Disorders 2012; 6: 589-601
8. Reed P, Osborne LA. Diagnostic practice and its impacts on parental health and child behaviour problems in autism spectrum disorders. Arch Dis Child 2012 (Jul 17). (EPub)
9. Matson J, Wilkins J, Sevin J et al. Reliability and item content of the Baby and Infant Screen for Children with Autism Traits (BISCUIT): Parts 1-3. Research in Autism spectrum Disorders 2009; (Apr-Jun); 3(2)
10. Feldman MA, Ward RA, Savona D, et al Development and initial validation of a parent report measure of the behavioral development of infants at risk for autism spectrum disorders. J Autism Dev Disord 2012 (Jan); 42(1):13-22
11. Goin-Kochel RP, MacKintosh VH, Myers BJ. Parental reports on the use of treatments and therapies for children with autism spectrum disorders Research in Autism Spectrum disorders 2007; 1: 195-209 
12. Howard JS, Sparkman CR, Cohen H G, et al. A comparison of intensive behavior analytic and eclectic treatments for young children with autism. Research in Developmental Disabilities 2005; 26(4): 359-383
13. Mulloy A, Lang R, O Reilly M, et al. Gluten free and Casein free diets in the treatment of autistic spectrum disorders: A systematic review. Research in Autism Spectrum Disorders (2010); 4(3): 328-339
14. Irish Society for Autism, http://autism.ie/
15. Rogers SJ, Dawson G. Early Start Denver Model for Young Children with Autism. New York, NY: Guilford Press, 2010
16. Bailey A, Le Couteur A, Gottesman I, et al. Autism as a strongly genetic disorder: Evidence from a British twin study. Psychological Medicine 1995 (Jan); 25 (1): 63-77