SYMPOSIUM: PSYCHIATRY
Diagnosing autism/autism
spectrum disorders
Kirsty Yates
Ann Le Couteur
Abstract
Awareness of autism spectrum disorder (ASD) within public and med-
ical domains has increased. Demand on services is high as children
and young people are being presented for earlier advice, assessment
and diagnosis. To maximise detection and minimise harm it is essen-
tial for all clinicians working with children including primary care teams,
allied healthcare professionals, educational and social care staff to
have a sound knowledge of the presentation and assessment of
autism spectrum disorders (ASD) and an understanding of the co-
morbidities. Whilst routes of entry for referrals can vary due to a diver-
sity of presentation and local service provision, there are standards in
the recognition, referral and diagnosis of autism. Early identification is
advantageous in order to maximize the child’s potential, provide
appropriate support and targeted intervention for ASD and co-
occurring conditions with the aim of improving outcomes. This review
addresses the diagnosis of ASD and provides an assessment frame-
work for professionals who encounter a child with a suspected autism
spectrum disorder.
Keywords autism; autism spectrum disorder; co-morbidity;
diagnosis; multidisciplinary assessment
What is autism/autism spectrum disorder?
ASD is a lifelong neurodevelopmental disorder. The term autism
refers to the prototypical condition described in 1943 by Leo
Kanner, also known as core autism. However, it is well recog-
nized that there is a spectrum of presentation and a broader
autism phenotype with less severe and more subtle behavioural
features that may only manifest after a change in environmental
demand. Autism spectrum disorder has been characterized by
qualitative behavioural abnormalities in communication, recip-
rocal social interaction together with patterns of repetitive,
restricted and stereotyped interests and activities. These deficits
are pervasive, persistent, usually present in early childhood and
likely to lead to impairments in functioning across different
settings.
Kirsty Yates MBBS MRCPCH is a Consultant Paediatrician, Chester Le
Street Community Hospital, Durham, UK. Conflict of interest: none
declared.
Ann Le Couteur BSc MBBS MRCPsych FRCPsych FRCPCH is Professor of
Child and Adolescent Psychiatry, Institute of Health and Society,
Newcastle University, Sir James Spence Institute, Royal Victoria
Infirmary, Newcastle upon Tyne, UK. Conflict of interest: ALC is one
of the authors of the ADI-R and a member of the Clinical Guideline
Group for the ASD NICE guidelines.
PAEDIATRICS AND CHILD HEALTH --:-
Please cite this article in press as: Yates K, Le Couteur A, Diagnosing autism/autism spectrum disorders, Paediatrics and Child Health (2016),
http://dx.doi.org/10.1016/j.paed.2016.08.004
What’s new?
C Changes to the DSM International diagnostic classification
criteria were introduced in 2013. Autism Spectrum Disorder is
the only diagnostic category. ICD-11 is expected in 2018 and
likely to be similar.
C A new diagnosis of Social (pragmatic) communication disorder
has been introduced in DSM-5 to identify those individuals with
persistent deficits in social communication and social interac-
tion in the absence of restricted, repetitive patterns of behav-
iour, interests and activities. The clinical and research utility of
this new diagnosis is to be ascertained.
C NICE Guidance on the support and management of Autism in
under 19’s was published in 2013. Both NC128 & 170 are
currently under systematic review to consider the need for
updating.
C There is continued emphasis on transition planning to young
adulthood, supported by the Children and Families Act 2014,
Adult autism Statutory Guidance 2015 and the Autism Act 2009.
NICE have recently published guidance on behaviours that
challenge in the learning disability population and transition in
young people using health or social care services.
There are currently two international classification systems
for diagnosing ASD. In 2013 the American Psychiatric Associa-
tion revised the Diagnostic Statistical Manual (DSM-5). Changes
included the introduction of Autism Spectrum Disorder as a
single diagnosis and the removal of the diagnostic subgroupings
(autism, Asperger’s syndrome, atypical autism); combining the
qualitative impairments of social communication and social
interaction into one diagnostic domain and expanding the
Restrictive, Repetitive Behaviours and Interests domain (see
below in section on Symptoms and Signs) to include stereotyped
and repetitive speech, hypo- and hyper-reactivity to sensory
input and unusual sensory interests.
DSM-5 recommends the use of a range of specifiers high-
lighting the importance of addressing the individual’s profile of
strengths and needs. These include severity specifiers that may
be used to describe current symptomology for each of the ASD
domains with the recognition that severity may vary with time
and environmental context so should not be used to determine
eligibility for and provision of services. Specifiers also include
whether there is intellectual disability, language impairment,
other associated disorders or comorbidities e.g. medical, genetic,
mental or behavioural. The current World Health Organisation
(ICD-10) criteria are based on the original triad of impairments,
though ICD-11 update is expected in 2018 and likely to be similar
to DSM-5.
Epidemiology
ASD is not rare. The National Institute of Health and Clinical
Excellence (NICE) states the diagnosis is queried in approxi-
mately 3% of the child population and epidemiological studies
suggest prevalence rates of at least 1 in 100. Broadening of
diagnostic criteria and improved case recognition are likely to
have contributed to the increase in diagnostic rates reported
1 Ó 2016 Published by Elsevier Ltd.
 SYMPOSIUM: PSYCHIATRY

since the 1990s. There are no high quality robust studies con-
firming a rise in the true prevalence. The condition is three to
four times more common in boys, with a male preponderance
rising in the high functioning group. NICE guidelines recognise
that in clinical practice girls may be under-diagnosed. It has been
suggested that high functioning females may be better at masking
their difficulties through imitation and observation of social ac-
tions and better verbal skills.
What causes autism spectrum disorders?
ASD is accepted to be a neurodevelopmental condition with a
biological basis. The heterogeneity of affected individuals and
genetic complexity has undoubtedly contributed to the daunting
task of identifying the cause(s) of ASD. Continuing research has
not identified a clear aetiology, but evidence suggests that it has a
complex genetic basis with strong heritability (60% concordance
reported in twin studies). Recurrence rates for siblings have been
reported between 3 and 10% with up to 18.7% when the broader
autism spectrum is considered.
Advances in molecular genetics have identified genetic vari-
ations e.g. ‘rare causal’ copy number variants and single gene
polymorphisms which are significant or ‘causal’ in approxi-
mately 10% of people diagnosed with ASD. De novo events may
be implicated in simplex families, whereas multiplex families
(when more than one family member is affected by ASD) may
pass a specific genetic variation through the generations which
increases the risk of ASD. It is possible that several genes of small
effect may act through an epigenetic mechanism and environ-
mental factors influence phenotypic expression. In 10e15% of
cases ASD is associated with a known medical condition.
Consistently recognized genetic conditions include tuberous
sclerosis (TS) and fragile X. Studies have shown that between 1%
and 3% of children with autism have TS and similar percentages
have fragile X. Other associations and a list of additional medical
risk factors are shown in Box 1.
Risk factors for autism spectrum disorder
C Sibling with ASD
C Parental schizophrenia-like-psychosis or affective disorder
C Maternal sodium valproate use during pregnancy
C Gestational age less than 35 weeks
C Intellectual disability
C Birth defects associated with central nervous system including
cerebral palsy
C Down syndrome
C Fragile X
C Tuberous sclerosis
Other medical conditions associated with ASD
C Neurofibromatosis
C Phenylketonuria (untreated)
C Fetal alcohol syndrome
C SmitheLemlieOpitz syndrome
C CHARGE syndrome
C Duchenne muscular dystrophy
C Congenital rubella
C Iron-deficiency anaemia
Box 1 Risk factors and medical conditions associated with autism spec-
trum disorder
Clinical research has demonstrated differences in trajectories
of head growth in children with ASD. Macrocephaly is a recog-
nized feature of ASD in 20e30% of cases though must be
interpreted in the context of parental head circumferences.
Studies have shown that as a group, head circumference accel-
erates during the first 2 years of life, with deceleration possibly
occurring in later childhood since average head circumference
has been reported in adolescence and adulthood. Although there
have been conflicting views around the relevance and cause of
these changes, they are reported to happen prior to the onset of
clinical symptoms and may be a useful clinical indicator. Gene
mutations in PTEN (Phosphatase and Tensin Homolog) have
been found in children with ASD and macrocephaly with case
series reporting a yield of 5% in those with head circumferences
greater than 98th percentile.
Research continues to study neurobiological differences in
ASD considering variation in neurotransmitters, volumetric and
functioning differences of various regions within the brain, but
the relevance to clinical practice of most identified abnormalities
has not been established.
Various environmental factors have been reported in the
literature. Risk factors are shown in Box 1 and include prema-
turity less than 35 weeks gestation, prenatal maternal valproate
use and congenital rubella. The controversy of links between the
MMR vaccine and ASD are unfounded.
Making a diagnosis
ASD is a heterogeneous condition with no single pathognomonic
feature or specific diagnostic test. Diagnosis can be challenging
as affected individuals display variation in the degree of behav-
ioural severity, language and intellectual abilities. Moreover,
their behavioural profiles are likely to change with age and co-
occurring problems and co-morbidities are common. DSM-5
recognises that symptoms in the early developmental period
may not manifest until capabilities are exceeded by social de-
mands. Similarly, there is recognition that for some adolescents,
repetitive behavioural manifestations are reduced through
developmental progress or intervention so criterion can be met
based on history. For a diagnosis of ASD under ICD-10, abnormal
or impaired development should be present by the age of 3 years.
Many parents express concerns as early as 15e18 months of
age, but despite increased awareness and guidance, average age
at diagnosis remains at 4e5 years. This is possibly due to a
combination of factors that include variability of assessment
pathways, demand on services, lack of recognition of subtle
difficulties at a young age, presence of additional diagnoses and
inclusion of school age individuals who may only present at an
older age when their difficulties may become more overt as they
are unable to manage increasingly challenging academic and/or
social expectations. Studies have shown that diagnosis of ASD at
2 years of age is possible and stable over time, although it is less
reliable for the broader autism spectrum.
Symptoms and signs of autism spectrum disorders
Social communication
Difficulties and delay in social interaction are often the earliest
features in ASDs, but they can be subtle and easily missed.
Absence of joint attention (i.e. failure to show interest, share a

PAEDIATRICS AND CHILD HEALTH --:- 2 Ó 2016 Published by Elsevier Ltd.

Please cite this article in press as: Yates K, Le Couteur A, Diagnosing autism/autism spectrum disorders, Paediatrics and Child Health (2016),
http://dx.doi.org/10.1016/j.paed.2016.08.004
 SYMPOSIUM: PSYCHIATRY
focus of attention and follow gaze) is highly suggestive of ASD.
Carers may describe that the child fails to respond to their
name when called repeatedly, raising the possibility of a
hearing impairment. Inadequate facial expressions, including
lack of social smiling and limited use of gestures, e.g. shaking
head, nodding, waving, clapping, are also features. Individuals
with ASD lack awareness of others feelings and the impact of
their behaviour on others. Sometimes this manifests as inap-
propriate behaviour in a specific social context or inappropriate
response to others’ emotions. There can be misinterpretation of
tone of voice and facial expressions of others, leading to dif-
ficulties with peers, often combined with the failure to develop
mutual sharing of interests, activities and emotions. Younger
children may not seek to share enjoyment, e.g. showing a toy
to a parent or pointing out objects of interest to others.
Conversely, higher functioning individuals often seek interac-
tion with others and make attempts to socialize, but come
across as socially odd. Often, social play is limited and in
isolation to their peers.
Concerns may be raised when a child has failed to acquire
language as expected. Some children with ASD may develop no
useful communicative speech or sounds. In contrast to those
with specific language disorders, children with ASD often fail to
use gestures or mime to compensate. Instead, parents may
describe the child either obtaining a required object themselves
or taking another person’s hand to the object as if to use them as
a ‘tool’. Language is often atypical with idiosyncratic use of
words or phrases, e.g. nonsense or jargon words, or referral to
self as ‘you’ (pronominal reversal). Other features include
abnormal delivery of speech (prosody), i.e. unusual pitch, speed,
volume or tone. Whatever the language skills present, two-way
reciprocal conversational interchanges tend to be difficult,
particularly if the topic of conversation is restricted to the nar-
rowed/circumscribed and repetitive interest of the affected in-
dividual. An individual with ASD often struggles to engage in
social chat and build on conversation about someone else’s
hobby or interest.
Restricted, repetitive behaviours, interests and
activities
Interests and activities in individuals with ASD are often
restrictive and repetitive. Stereotyped or repetitive motor
mannerisms such as hand flapping, finger flicking, head
banging and twirling may be seen. Repetitive use of objects i.e.
lining up toys, and repetitive use of speech e.g. delayed
echolalia or stereotyped phrases (with constant form or
pattern) are well recognised. Delayed echolalia is the term
applied to copied or directly imitated speech, e.g. from an adult
(such as a relative or teacher, television or radio) that is
repeated some time after it is originally heard. For many in-
dividuals, play may lack creativity and imagination, but iso-
lated examples of pretend play and imitative behaviour do not
exclude a diagnosis of ASD. A child may have a preoccupation
with an interest that is abnormal in intensity, content or both.
Some individuals with ASD have superior or special splinter
skills/abilities in one or more areas of functioning e.g. calcu-
lations, memory, music, artistic endeavours. There can be
insistence on sameness such that changes in routines or envi-
ronment are often resisted and not uncommonly result in
PAEDIATRICS AND CHILD HEALTH --:-
Please cite this article in press as: Yates K, Le Couteur A, Diagnosing autism/autism spectrum disorders, Paediatrics and Child Health (2016),
http://dx.doi.org/10.1016/j.paed.2016.08.004
distress and/or temper tantrums. Hypo- or hyper-sensitivity to
environmental stimuli or unusual interest in sensory aspects of
the environment can be seen e.g. response to specific sounds or
textures, insensitivity to pain, or fascination with smells, tex-
tures or colours of food or fabrics.
Repetitive behaviours are common in young children and are
part of normal development. However for individuals with ASD
excessive rates of repetitive behaviours can cause significant
social impairment, interfere with learning new skills and
contribute to levels of parental stress. For individuals with an
absence of restricted, repetitive patterns of behaviour, but who
have persistent difficulties in the social use of verbal and
nonverbal communication which limits effective communica-
tion, social relationships and learning (not explained by low
cognitive ability), a new DSM-5 diagnosis of Social (pragmatic)
Communication Disorder may be considered.
Regression
Regression or a period of stasis occurs in 20e30% of cases.
Regression most commonly affects language, usually at the less
than 10 word stage, therefore it is most often reported from 18
to 24 months of age. Motor development is preserved, but
other skills can be affected and parents may concurrently
report a change in sleeping or eating habits, loss of eye contact
and development of a specific interest. Signs and symptoms of
ASD with regression in social communication skills in a child
under 3 years is strongly associated with a diagnosis of ASD
although the aetiology is not understood. Regression can occur
in children with ASD above 24 months, but pre-existing
development is usually atypical. Autistic regression in chil-
dren over 3 years or regression in motor domains warrant
careful assessment by a paediatrician or paediatric neurologist
to consider neurodegenerative conditions, such as Rett syn-
drome and Landau Kleffner.
Learning disabilities
Historically autism was mainly recognized in individuals with
severe impairment and learning disabilities (IQ less than 70.)
With widening of the spectrum, comorbid learning disability is
reported to affect approximately 50% of people with ASD’s. In-
dividuals may show an unusual cognitive profile with significant
discrepancies between verbal and non-verbal scores (in either
direction.) However, it is important to note that for individuals
with “higher” scores in either verbal or non-verbal abilities this
may not reflect their social skills nor their everyday adaptive
living skills which are likely to be significantly impaired.
Epilepsy
The risk of epilepsy in ASD is increased compared with the
general population and linked to lower IQ and regression, with
peaks of incidence occurring at pre-school age and adolescence.
Between 18% and 29% of children with ASD are affected and
any seizure type can occur. Epileptiform EEGs are common in
ASD, and studies have shown that 10% of children with ASD
have an epileptiform EEG without any clinical evidence of sei-
zures. There is no evidence that these discharges have a causal
relationship to ASD or that routine EEGs should be performed.
Any investigation and treatment should be guided by the clinical
presentation of the individual.
3 Ó 2016 Published by Elsevier Ltd.
 SYMPOSIUM: PSYCHIATRY
Psychiatric, neurodevelopmental and behavioural co-
morbidities
Disturbances of behaviour, attention, activity, thought, mood
and emotion are common in children with ASD. Children with
ASD can have any developmental, medical and mental health
conditions experienced by children without ASD. Disordered
sleep and food selectivity are well recognized. Mental health
problems include emotional difficulties such as a range of anxiety
and mood disorders and behaviours that are challenging. These
behaviours that challenge can include self-injurious behaviour,
oppositional defiant disorder, aggressiveness, temper tantrums
and emotional lability. Co-morbidities within ASD are well
recognized.
Approximately 70% of individuals meet the diagnostic criteria
for at least one other disorder, highlighting the importance of
identifying co-morbid mental health and behavioural problems in
children and young people from across the age and ability range.
There is some suggestion that particularly in those of higher
functioning, the risk for additional difficulties is increased. A list
of psychiatric and neurodevelopment disorders associated with
ASD is given in Box 2.
Assessment of a child with possible ASD
The purpose of assessment in ASD is to make a diagnosis where
applicable and guide interventions and treatment based on a
profile of strengths, impairments, skills and needs of the child
and family. This includes identification of co-morbidities and
associated developmental problems which can have significant
impact on a child with ASD and their family. Diagnosis may be
difficult due to communication impairment and possible asso-
ciated cognitive problems, making it hard to determine
whether the features are the result of ASD, due to comorbid
conditions, environmental factors, or a combination of all
three. For UK practitioners, the NICE guideline on assessment
and diagnosis of ASD recommends that children and young
people with suspected ASD have access to a local multidisci-
plinary autism team who can provide advice and expertise in
assessing and formulating both the individuals’ and their
family’s profile.
Psychiatric, behavioural and neurodevelopmental co-
morbidities associated with autism spectrum disorder
C Attention-deficit hyperactivity disorder (ADHD)
C Tourette syndrome/tic disorder
C Dyspraxia/developmental coordination disorder (DCD)
C Dyslexia
C Obsessiveecompulsive disorder (OCD)
C Specific phobias
C Anxiety
C Depression/mood disorder
C Sleeping difficulties
C Feeding difficulties and food selectivity
C Toileting difficulties and constipation
C Oppositional defiant disorder and conduct disorder
C Self injurious behaviour
Box 2
PAEDIATRICS AND CHILD HEALTH --:-
Please cite this article in press as: Yates K, Le Couteur A, Diagnosing autism/autism spectrum disorders, Paediatrics and Child Health (2016),
http://dx.doi.org/10.1016/j.paed.2016.08.004
History
The diagnosis of ASD is based on developmental history and
direct observation looking for behavioural features. Information
about symptoms and signs and direct observations should be
gathered from different settings, including home, education and
other settings including social care services (if applicable), noting
the duration, severity and impact. The features should be
pervasive, but may appear different across the various settings.
Interpretation should take into account the child’s overall
development, medical history and presence of risk factors.
Absence of certain symptoms and signs does not exclude an ASD
diagnosis e.g. poor eye contact, social smiling. Likewise presence
of symptoms and signs consistent with ASD may be accounted
for by other factors. It is important to note that a lack of concern
from the parents about early development does not imply a
normal developmental history.
Standardized instruments can be used to provide a structure
for assessment and are reviewed in NICE guidelines. Assess-
ments should be undertaken by professionals with definite
clinical competencies in ASD assessment, diagnosis and inter-
vention planning. Standardised instruments are not essential
for every assessment, but may enhance or facilitate diagnosis
in that they can bring a broader understanding to the strengths
and difficulties experienced by the patient and family. They
should not be used in isolation and are less reliable in the
younger age group (less than 2 years.) The differential diag-
nosis for ASD is listed in Box 3, and should help guide further
assessment.
When to refer for specialist review
Key features indicating that further evaluation is essential are
absence of babble, gesture or pointing by 12 months, no single
words by 18 months, no two-word spontaneous phrase (non-
echoed) by 24 months and any loss of language or social skills at
any age. Developmental concerns raised in a pre-school child will
tend to generate initial referral through child health e.g. presen-
tation with developmental delay or speech and language diffi-
culties. The entry point is more diverse in school-age children as
they can present with a broader range of symptoms.
Differential diagnosis of autism spectrum disorder Dif-
ferential diagnoses may also be coexisting conditions
C Global developmental delay
C Intellectual disability
C Hearing problems
C Visual impairment
C Specific language disorders
C Social communication disorder
C Selective mutism
C Anxiety
C Obsessive compulsive disorder
C Reactive attachment disorder/Maltreatment
C Lack of opportunity for interaction
C Rett syndrome (if features of regression)
C Epileptic encephalopathy
Box 3
4 Ó 2016 Published by Elsevier Ltd.
 SYMPOSIUM: PSYCHIATRY
Examination
General physical examination should be performed as part of the
assessment and include a full neurological examination, looking
for dysmorphisms, neurocutaneous stigmata and include Woods
light (ultraviolet light) examination. Signs of injury, self-harm
and possible maltreatment should be recognized. Observation
of behaviour in different settings, e.g. home and school/nursery/
play group, will allow assessment of the child in environments
with varied social structures and give an impression of how the
child interacts with peers and adults and how they adapt to
predictable and less predictable routines. An autism-specific
observational assessment such as the Autism Diagnostic Obser-
vational Schedule (ADOS) can provide useful information about
social communication, repetitive behaviours and play skills
during a set of standardised social situations with a professional
trained to administer the tasks.
Investigations
Where a possible hearing or visual impairment is suspected then
it is helpful to rule out these problems first. Subsequent in-
vestigations should aim to exclude or identify medical conditions
associated with ASD, but should only be performed where there
are clinical indications and/or specific management, treatment or
genetic implications. Investigative yield for biomedical testing is
quoted as between 8% and 37% depending on the population
studied. Array comparative genomic hybridisation (Microarray
CGH) has largely replaced karyotyping and can identify rare
‘causal’ copy number variants associated with ASD. Clinical
practice varies as to which children should receive a microarray.
Some target those where there is a higher yield of positive results
i.e. lower IQ and dysmorphisms and some services are offering
testing to all. Ultimately investigations should be guided by
clinical presentation and family history and may include genetic
testing for Fragile X or Rett’s syndrome.
Given the relatively low yield and potential for false-positive
investigation, neuroimaging and EEGs should only be per-
formed if there is a clinical indication. Similarly, evaluation of the
gastrointestinal tract should be guided by clinical presentation
and follow standard evaluation as for any child.
Multiagency assessment is crucial in establishing an
accurate diagnosis
The autism team should comprise a paediatrician and/or child
and adolescent psychiatrist, speech and language therapist and a
clinical or educational psychologist. The team should have ac-
cess to allied professionals including occupational therapy,
physiotherapy and paediatric neurology. Children younger than 3
years with possible regression in language or social skills should
be referred urgently for an ASD assessment. Ideally entry to the
local ASD pathway should be via a single point. Such multi-
agency work requires careful coordination and NICE recom-
mends that assessment by the ASD team is started within 3
months from initial referral.
Management
Management for ASD should be multidisciplinary and take a
behavioural, developmental, educational and environmental
approach to focus on the core features, symptoms and
PAEDIATRICS AND CHILD HEALTH --:-
Please cite this article in press as: Yates K, Le Couteur A, Diagnosing autism/autism spectrum disorders, Paediatrics and Child Health (2016),
http://dx.doi.org/10.1016/j.paed.2016.08.004
behaviours of autism. It is recommended that a key worker is
identified to coordinate treatment and eventually support tran-
sition to adult care. Evaluation of this role is a research
recommendation.
Early social-communication based intervention programmes
which include play based strategies can be effective in targeting
the core features of ASD, increasing joint attention and reciprocal
communication. For young children such interventions can
include parents, educational staff and therapists. For older chil-
dren there is some emerging evidence of the value of peer
mentoring. Pharmacological and dietary interventions are not
recommended for the management of core features of ASD.
Behaviours that challenge are more common in ASD than in
other conditions with similar levels of intellectual impairment.
Factors which may increase challenging behaviour should be
assessed routinely and where identified addressed in care plan-
ning e.g. communication barriers, the physical and social envi-
ronment, developmental changes, inadvertent reinforcement,
physical disorders and mental health. In 2015, a new NICE
guideline (NG11) for behaviours that challenge has been pub-
lished for individuals with Learning Disability and challenging
behaviour. Exploitation and abuse should also be considered and
managed according to local guidelines.
Identification of associated medical disorders or comorbidities
will require management for the diagnosed condition(s) by the
appropriate professionals according to national guidelines where
they exist and with appropriate modifications for children with
ASD. When pharmacological interventions are indicated (usually
in addition to psychosocial interventions), careful monitoring of
adverse effects is needed in this neuro-developmentally vulner-
able group. Cognitive Behavioural Therapy for children and
young people with anxiety should be considered in those with
the verbal and cognitive ability to engage, but may require
adaptation.
Transition in ASD
In the UK the Autism Act 2009 and Adult Autism Statutory
Guidance 2010 (updated in 2015) require local authorities to
develop a strategy for the provision of health and social care
services for people with ASD over 14 years of age. Reassessment
of individuals around 14 years who are in receipt of care from
health and social care services should establish the need for
continuing treatment into adulthood in line with Autism Guid-
ance in Adults (NICE CG142.) Guidance for professionals on
transition of young people into adult services has also recently
been published. (NICE NG43, 2016.) The Children’s and Families
Act 2014 legislates for joint education, health and social care
plans with support for identified individuals until 25 years of age.
Prognosis
ASDs are lifelong neurodevelopmental conditions. There have
been claims of cures, but these are unfounded. Behaviours and
presentation vary over time with a tendency for progress in all
domains, although there is huge individual variation. Many in-
dividuals require ongoing and specific supports. Whilst there are
many adults requiring lifelong full-time care, a small proportion
of adults with higher functioning ASD (15%) may be able to live
independently and obtain employment. Determinants of outcome
5 Ó 2016 Published by Elsevier Ltd.
 SYMPOSIUM: PSYCHIATRY
include severity of behaviours, cognitive abilities and verbal ca-
pacity. Studies have reported encouraging findings for individuals
receiving early intervention focussing on skills development, but
further research is needed to determine how early interventions
will impact on individuals with ASD in the longer term. A 10 www.effectivehealthcare.ahrq.gov Therapies for children with
FURTHER READING
1 National Institute of Health and Clinical Excellence. Autism in under
19s: recognition, referral and diagnosis of children and young
people on the autism spectrum. Clinical Guideline CG128.
September 2011. National Institute for Health and Care Excellence,
www.nice.org.uk.
2 National Institute of Health and Clinical Excellence. Autism in under
19s: support and management. Clinical Guideline CG170. August
2013. National Institute for Health and Care Excellence, www.nice.
org.uk.
3 American Psychiatric Association. Diagnostic and statistical
manual of mental disorders. 5th edn. 2013. Washington, DC:
American Psychiatric Association, www.dsm5.org.
4 World Health Organisation. The ICD-10 classification of mental and
behavioural disorders, 10th revision. Geneva: World Health Orga-
nisation, 1993.
5 NICE Guideline 43. Transition from children’s to adult’s services for
young people using health or social care services. February 2016.
National Institute for Health and Care Excellence, www.nice.org.uk.
6 National Institute of Health and Clinical Excellence. Challenging
behaviour and learning disabilities: prevention and interventions for
people with learning disabilities whose behaviour challenges. NICE
Guideline 11. May 2015. National Institute for Health and Care
Excellence, www.nice.org.uk.
PAEDIATRICS AND CHILD HEALTH --:-
Please cite this article in press as: Yates K, Le Couteur A, Diagnosing autism/autism spectrum disorders, Paediatrics and Child Health (2016),
http://dx.doi.org/10.1016/j.paed.2016.08.004
USEFUL RESOURCES
7 www.nas.org.uk National Autistic Society.
8 www.researchautism.net Research autism.
9 www.autismgenome.org Autism genome project.
ASD 2014.
11 www.cafamily.org.uk Contact a family.
12 www.rarechromo.org Unique: understanding chromosome
disorders.
Practice points
C ASD is a heterogeneous lifelong neurodevelopmental condition
with behavioural difficulties affecting social communication and
restricted repetitive patterns of behaviour, activities and interests.
C Assessment of children and young people with suspected ASD
should be a timely multidisciplinary process with local pathways
providing access to a specialist ASD team.
C Aetiology of ASD is unknown though it is highly heritable. Epi-
genetics is likely to play a role in phenotypical presentation.
C Diagnosis is clinical and can be made accurately in the pre-school
period.
C Girls on the autism spectrum may be underdiagnosed.
C Medical investigations should be guided by clinical presentation
and features of the individual patient.
C Early recognition of the condition is likely to have a positive
impact on outcome.
C Co-morbid conditions are common and should be recognized and
managed appropriately.
6 Ó 2016 Published by Elsevier Ltd.