How to diagnose autism

Anissa Nur Azmi

[email protected]

1.1 Introducing
Over the past two decades, there has been an explosion of interest in autism and autism
spectrum disorders. Knowledge and awareness of the condition has grown exponentially at all
levels among the general public, parents, health professionals, the research community and,
more recently, at parliamentary level. Alongside the increased understanding of these complex
and disabling conditions is the acknowledgment of a broadening of the diagnostic criteria away
from a narrow definition of autism to the autism spectrum with less clear diagnostic
boundaries. Growing evidence of the importance of early diagnosis and intervention demands
knowledge and skills from all professionals working with young children and in particular those
involved in recognising early concerns about a child’s development. This article outlines
current clinical and research findings in relation to early diagnosis and considers the role of the
paediatrician in this process. Reference is also made to the National Autism Plan for Children.

The term autism spectrum disorders (ASD) is used to describe the group of pervasive
developmental disorders characterised by qualitative abnormalities in reciprocal social
interactions and patterns of communication, and by a restricted, stereotyped,
repetitive repertoire of interests and activities. These qualitative behavioural
abnormalities are a pervasive feature of the disorder and are, usually present across
many setting. The spectrum includes autism (sometimes referred to as core autism) as
the prototypical disorder, Asperger’s syndrome, childhood disintegrative disorder and
pervasive developmental disorder not otherwise specified (PDD-NOS). The International
Classification of Diseases 10th edition1 and Diagnostic and Statistical Manual, 4th edition2 do not
recognise the term ASD but refer to pervasive developmental disorders.

Autism, with its difficulties in the three main domains outlined above, was previously
mainly recognised in those individuals with severe levels of impairment, often with
intellectual disability. It is now understood that these core difficulties can manifest in
individuals with varying degrees of behavioural severity, and language and intellectual
abilities. The spectrum runs from individuals, of all ages, who are severely impaired to
those considered ‘‘high functioning’’. The term ‘‘high functioning’’ can be misleading in
that an individual of ‘‘high’’ intellectual ability may still be significantly impaired in terms of
social skills.

1.2 How broad is the autism spectrum?

Recognition of this unique pattern of skills and difficulties extends beyond core autism
to include ASDs and to varying degrees in the relatives of individuals with autism, the
so-called ‘‘broader phenotype’’. Subthreshold social and communication difficulties may
further extend into the general population. It seems difficult to define where the
threshold lies for ASD versus non-ASD. It is the role of clinicians, including
paediatricians, to use their judgement to ascertain the problems for the child and
family and to what extent adaptive functioning is impaired.
 1.3 Early Identification

Increased awareness and knowledge in those with contact with young children that is,
parents, health visitors, play group leaders, etc is resulting in younger children being
presented to professionals, such as paediatricians, for advice and diagnostic
clarification. More often, this will include young children with subtle difficulties and with
a range of abilities.

Early identification has many advantages for the child and family. These include:

 earlier diagnosis where appropriate;

 early information about education and support;

 earlier access to targeted social, communication and behavioural interventions;

and identification of comorbid medical, developmental and psychiatric conditions.

Early identification of a child’s profile of strengths and difficulties, with opportunities to

take up appropriate and targeted interventions, is likely to reduce the risk of additional
secondary behavioural difficulties and so help a child maximise his or her future
potential. Several studies reviewed by Charman and Baird have assessed the stability
of diagnosis from the second year of life. The consensus from these studies is that
diagnosis of childhood autism (core autism) is stable in the third and even second
year of life. Diagnosis of the broader range of ASD is less reliable, suggesting that,
although early diagnosis is important, a period of continued monitoring and
observation may be appropriate. Diagnostic uncertainty should not, however, exclude
a child from early social/communication intervention programmes.

It is recognised that access to assessment and targeted interventions is not

consistent between local areas or across the UK. In response to this, the National
Autism Plan for Children (NAPC) was published to provide a template for professionals.
The document addresses identification, assessment, diagnosis and access to early
interventions for preschool and primary school aged children with suspected ASD,
and provides clear and structured recommendations, with detailed and useable
appendices to support each step of the process.

1.4 Differential Diagnoses

Differential diagnoses at this stage may include global devel- opmental delay,
hearing problems or specific language disorders. Impairments in early social
communicative behaviours at age 2 years (box 1) can help distinguish between the
above. It is important to note that isolated examples of pretend play, gaze switching
and imitative behaviour cannot rule out an ASD diagnoses.

1.5 Diagnosis of School-Aged Children

A child may present after the preschool period for a number of reasons. It may be
that the child did not come to the attention of child health professionals and/or the
family has managed his or her difficulties. However, as the social world becomes
more complex and academic demands increase, the child may experience more
problems. Particular risk periods seem to be times of transition, such as nursery to
primary, or primary to secondary school. School-aged children and their families will
also require an MAA and coordinated care plans that encompass health, social and
education services, and the voluntary sector. Close liaison with teachers and
educational support staff will be of particular importance. For children over 5 years
(without a learning disability), a single referral point is more difficult to achieve as
referral may be made to a number of different agencies such as the local child and
adolescent mental health service or education a series of appointments with more
than one professional across several settings. These contributions will need to be
coordinated, discussed, and the proposed diagnostic formula- tion and treatment
plan agreed with the parents/family.

The paediatrician may have a number of roles in the MAA, depending on the
composition of the team. The physical examination and investigations will clearly be
the responsibility of the paediatrician (see later). He or she may also be involved in
taking an ASD-specific developmental history building on the general developmental
assessment. This information will guide further assessments and investigations. The
paediatrician may also undertake a coordinating role, such as collating information
from assessments and liaising with parents. Finally, he or she may be involved in
undertaking or coordinating standardised assessments (see below). This will be
determined by the individual skills of the paediatrician and other team members.

1.6 Standardised ASD Assessments

The NAPC recommends that at least one member of the team is trained in using
standardised assessment tools. The advantage of such training is that it will bring a
broader understanding of autism/ASD to the team rather than an expectation that
every child should have a standardised assessment. In the clinical setting,
standardised instruments may facilitate diagnosis in the context of a comprehensive
assessment but may also lead to increased waiting times (with the risk of delaying
the child and family’s access to early intervention) if used with all referred children.

Two examples of history-based diagnostic tools are the Autism Diagnostic Interview
Revised and the Diagnostic Interview for Social and Communication Disorders. These
tools provide the structure for a detailed developmental history, focusing on
autism/ASD symptoms, and include diagnostic algorithms. They should not be used in
isolation and need to be used with caution with very young children or those
with a mental age 24 months. The NAPC provides an example of a briefer
proforma (aide memoire) as a framework for an ASD-specific psychology service,
rather than directly to the (community) child health team. In these cases, the
paediatrician may well be asked to supplement the developmental history, carry out a
physical examination, and advise about appropriate investiga- tions, and use of
particular interventions including biomedical treatments and medication.

1.7 Intervation

The purpose of detailed assessment and diagnostic formulation is to inform the

intervention plan for both the child and his or her family. Families require information
about local multi- agency services, ASD-specific support groups and national
agencies such as the National Autistic Society and Contact a Family. Although a child
diagnosed with autism or ASD is unlikely to have particular acute medical needs, the
paedia- trician will be responsible for the medical review of develop- mental progress,
reassessment of needs, and for the management of any additional medical problems
such as epilepsy or referral to paediatric dietetics service. The paedia- trician will
therefore need to be aware of what general and ASD-specific interventions are
appropriate and available in the local area and how they can be accessed. Although
the evidence base for most therapeutic interven- tions is limited, there is emerging
evidence for the positive benefits of early (usually preschool) intervention
programmes, especially specific targeted, skills-based educational and behavioural
programmes for example, More than Words and EarlyBird. However, it is difficult to
provide evidence-based information given the lack of well-conducted intervention
evaluation studies and the clinical heterogeneity of children on the ASD spectrum.
Many unanswered questions remain as to which intervention programmes may be
most effective for a particular child and family. Paediatricians will be approached by
parents for advice about the best treatments and for their support for funding and
access to specific ASD treatments. These may include biomedical interventions such
as the use of special restrictive diets or nutritional additives for example, fish oils.
There has been much attention and contention surrounding the hypothesis that
peptides derived from gluten and casein have an aetiological role, the so-called opioid
theory of autism. Advocates of this approach recommend a gluten-free casein-free
(GFCF) diet. Millward et al conducted a systematic review of GFCF diets. They
reported only one small-scale single-blind trial involving children with autism. Ten
children were placed on a GFCF diet for a period of 12 months. Linguistic ability,
cognitive skills and motor ability did not differ significantly between treatment and
control groups after the 12-month period. However, reduction in parent-reported
‘‘autistic traits’’ was found to be significant in the GFCF diet group. Although this result
supports anecdotal evidence, larger scientifically rigorous multisite trials with
adequate power are required to provide an evidence base to help paediatricians and
other child health professionals give advice about the role of a range of biomedical
interventions in ASD.

1.8 Conclusion

Better knowledge of and interest in ASDs has resulted in children presenting at an

increasingly young age. Evidence suggests that core autism and ASD can be reliably
diagnosed earlier in the preschool period than was previously thought. This poses
new and exciting clinical challenges. Paediatricians provide a key role in the general
developmental and multi- disciplinary assessment/MAA of a child with suspected
autism/ ASD, usually taking responsibility for the developmental history, differential
diagnosis, decisions about physical and medical investigations, and the identification
of comorbidity especially in the preschool period. Parents and members of the team
may also turn to the paediatrician for advice about local provision and for opinion on
both medical and non-medical interventions, despite the limited evidence base.
References

1 World Health Organisation. The ICD-10 classification of mental and behavioural disorders–
tenth revision. Geneva: World Health Organisation, 1993.
2 American Psychiatric Association. Diagnostic and statistical manual of mental disorders: fourth
edition. Washington, DC: American Psychiatric Association, 1994.
3 Le-Couteur A, Bailey A, Goode S, et al. A broader phenotype of autism: the clinical spectrum
in twins. J Child Psychol Psychiatry 1996;37:785–801.
4 Constantino J, Llajonchere C, Lutz M, et al. Autistic social impairment in the siblings of
children with pervasive developmental disorders. Am J Psychiatry 2006;163:294–6.
5 Fombonne E. Epidemiology of autistic disorder and other pervasive developmental
disorders. J Clin Psychiatry 2005;66(Suppl 10):3–8.
6 Fombonne E. Epidemiological surveys of autism and other pervasive developmental disorders:
an update. J Autism Dev Disord 2003;33:365–82.
7 Chakrabarti S, Fombonne E. Pervasive developmental disorders in preschool children:
confirmation of high prevalence. Am J Psychiatry 2005;162:1133–41.
8 Baird G, Simonoff E, Pickles A, et al. Prevalence of disorders of the autism spectrum in a
population cohort of children in South Thames: the Special Needs and Autism Project (SNAP).
Lancet 2006;368:210–15.
9 Rutter M. Incidence of autism spectrum disorders: changes over time and their meaning. Acta
Paediatr 2004;94:2–15.
10 Madsen KM, Hviid A, Vestergaard M, et al. A population based study of measles, mumps, and
rubella vaccination and autism. N Engl J Med 2002;347:1477–82.

Biodata Singkat

Anissa Nur Azmi, lahir di Pekanbaru, Riau pada tanggal 09 September 2000. Ia merupakan
mahasiswi fakultas kesehatan, jurusan S1 Keperawatan di Universitas Pahlawan Tuanku
Tambusai.