Autism

Spectrum
Disorder
By: Wan Nor Hafizah Wan Hassan
Supervisor: Dr Maruzairi Hussain
WHAT IS
AUTISM?
• It is a neurodevelopmental disorder
characterised by impairments in
communication, behaviour and social
functioning beginning in childhood.
• As in its name “spectrum” refers to a
wide range of symptoms, skills, and
levels of disability.
PREVALENCE
• According to statistics from the Centers for Disease Control and Prevention (CDC), one in 54
eight-year-old children has autism spectrum disorder.
• They also reported that the condition was present in all ethnic, racial, and socioeconomic groups.
• Autism is four times more common in boys than in girls
• Prevalence statistics also indicate that autism is more common now than in the past. It also appears
to be increasing, growing as much as 10 to 17% over the past few years.
• Factors attributing to the rise in prevalence include the increase in awareness on the signs and
symptoms of ASD, the increase in access to services, the changes in the definition of autism over
time and the broadening of the diagnostic criteria.
PREVALENCE OF AUTISM IN
MALAYSIA

• There is no local epidemiological study on ASD prevalence in

Malaysia.
• However, in a feasibility study on the use of Modified Checklist for
Autism in Toddlers (M-CHAT) among children of 18 to 36 months of
age in child health clinics by Ministry of Health Malaysia, the
prevalence of ASD in Malaysia was approximately 1.6 in 1,000.
 HISTORY OF
AUTISM
• 1943 – Leo Kanner – Infantile autism
• 1944 – Hans Asperger
• 1960s – The “refrigerator mother” concept
• 1970s – Biology / genetic underpinnings
• 1980 – DSM-III – Pervasive Developmental
Disorders
• 1987 – DSM-III-R - Autistic Disorder / PDD-
NOS
• 1994 – DSM-IV – Asperger’s Disorder
• 2013- DSM-5- Autism Spectrum Disorder
SIGNS & SYMPTOMS
1) Social interaction and reciprocal communication behaviours
Spoken language
• Language delay (in babble or words, for example less than ten words
by the age of 2 years)
• Regression in or loss of use of speech
• Non-speech like vocalisations - odd or flat intonation, frequent
repetition of set words and phrases (‘echolalia’), reference to self by
name* or “you” or “she / he” beyond 3 years, reduced and/or
infrequent use of language for communication, for example use of
single words although able to speak in sentences
Responding to others
• Absent or delayed response to name being called, despite normal
hearing
• Reduced or absent responsive social smiling
• Reduced or absent responsiveness to other people’s facial expressions or
feelings
• Unusually negative response to the requests of others (demand avoidant
behaviour)
• Rejection of cuddles initiated by parent or carer, although may initiate
cuddles themselves
Interacting with others
• Reduced or absent awareness of personal space, or unusually intolerant of
people entering their personal space
• Reduced or absent social interest in others, including children of his/her own
age – may reject others; if interested in others, may approach others
inappropriately, seeming to be aggressive or disruptive
• Reduced or absent imitation of others’ actions
• Reduced or absent initiation of social play with others, plays alone
• Reduced or absent enjoyment of situations that most children like, for example,
birthday parties
• Reduced or absent sharing of enjoyment
Eye contact, pointing and other gestures
• Reduced or absent use of gestures and facial expressions to
communicate (although may place adult’s hand on objects)
• Reduced and poorly integrated gestures, facial expressions, body
orientation, eye contact (looking at people’s eyes when speaking) and
speech used in social communication
• Reduced or absent social use of eye contact assuming adequate vision
• Reduced or absent joint attention shown by lack of gaze switching,
using pointing at or showing objects to share interest
2) Unusual or restricted interests and/or rigid and repetitive behaviours

• Repetitive ‘stereotypical’ movements such as hand flapping, body rocking

while standing, spinning, finger-flicking
• Repetitive or stereotyped play, for example opening and closing doors
• Over-focused or unusual interests
• Excessive insistence on following own agenda
• Extremes of emotional reactivity to change or new situations, insistence on
things being ‘the same’
• Over or under reaction to sensory stimuli, for example textures, sounds,
smells
• Excessive reaction to taste, smell, texture or appearance of food or extreme
RISK FACTORS

• The aetiology of ASD is unclear.

• It is multi-factorial which
includes both genetic
vulnerability and
environmental factors.
RISK FACTORS
1) Advancing parental age
• Maternal age >40 years old
• Paternal age >50 years old
• First born of mother aged >35 years old and father aged >40years old
2) Prematurity (<37 weeks of gestation) in particular those born <33
weeks are at risk of developing ASD
3) Neonatal encephalopathy
RISK FACTORS
4) Genetic risk
• The adjusted relative recurrence risk of ASD is increased with
increasing genetic relatedness:
• Monozygotic twins = 153.0 (95% CI 56.7 to 412.8)
• Dizygotic twins. = 8.2 (95% CI 3.7 to 18.1)
• Full siblings. = 10.3 (95% CI 9.4 to 11.3)
• Maternal half-siblings. = 3.3 (95% CI 2.6 to 4.2)
• Paternal half-siblings = 2.9 (95% CI 2.2 to 3.7)
• Cousins. = 2.0 (95% CI 1.8 to 2.2)
RISK FACTORS
5) Peri-conceptional Supplement
• Use of folic acid supplement in mothers around the time of conception
(four weeks before and eight weeks after pregnancy) or peri-
conceptional prenatal vitamin intake (containing more iron, vitamin
B6, vitamin B12 and 800 μg of folic acid as compared to ordinary
multivitamins) appears to offer some benefit especially in those who
are genetically susceptible
The MMR vaccine theory of autism?
6) Immunization
• Based on a Cochrane systematic review of 10 studies, no significant
association was found between MMR immunisation and autism.
• In another study, increasing exposure to antibody-stimulating proteins
and polysaccharides in vaccines during the first two years of life was
not associated with risk of developing ASD.
SCREENING
1) Modified Checklist for Autism in Toddlers (M-CHAT)
• a screening tool for autism spectrum disorder (ASD) among children
of 18 months and repeat at 24 months if the child passes the earlier M-
CHAT.
• M-CHAT may be used to screen children up till the age of 30 months
if the child misses the earlier screening.
• Regardless of the screening result, children suspected of ASD at any
age by the family or other care providers should be referred for
evaluation.
2) Social Communication Questionnaire (formerly known as Autism
Screening Questionnaire)
• a parent-rated questionnaire on children aged above four years. It
evaluates the social interaction,communication, language and
stereotypic behaviours for possible autism or other ASD.
• SCQ was better in detecting ASD in individuals over seven years of
age(sensitivity of 86% to 90% and specificity of 78% to 86%)
compared to childrenaged 2 to 3 years old (sensitivity 47% to 54% and
specificity 89% to 92%).
ASSESSMENT
A complete history should include:
Concerns by parents / carers
Symptoms suspicious of ASD
Developmental history
Behavioural problems and interaction with others
Medical history including prenatal and perinatal histories
Psychiatric history – to assess co-existing mental disorders e.g.depression, anxiety
Family history
Social history including schooling, home life, physical environment, social needs
Medication and allergy history
Physical examination should include:
• Presence of dysmorphic features
• Presence of congenital anomalies
• Stigmata of neurofibromatosis or tuberous sclerosis
• Speech / communication skills and developmental assessment
• Hearing / visual assessment
• Signs of physical abuse / self-harm
DSM-5 Autism Criteria
• More specific ASD subtypes or specifiers are recognized.
with/without accompanying intellectual impairment
with/without accompanying language impairment
associated with a known medical or genetic condition or environmental factor
associated with another neurodevelopmental, mental, or behavioral disorder
and with catatonia.
• Compared to DSM-IV, patients can be diagnosed with autistic disorder, Asperger’s syndrome,
and pervasive developmental disorder not otherwise specified. Those who are diagnosed with
the aforementioned can still be given the diagnosis of autism spectrum disorder.
• To be diagnosed with autism using the DSM-5, a patient must meet all three
(3) subcategories under Criteria A, at least two (2) subcategories under Criteria B, and all
Criteria C to E.
COMORBIDITIES
1) Intellectual Disability
Extreme autistic traits are significantly associated with intellectual disability and poor academic performance.
Among those with ASD, about half have intellectual disability

2) Attention Deficit Hyperactivity Disorder (ADHD)

Prevalence of ADHD in children with ASD is 53%, with the following subtypes:
- 22% - hyperactivity / impulsivity
- 46% - inattentive
- 32% - combined
Compared to children with ASD alone, those with comorbid ADHD:
- are younger, with children between 5 and 7 years presenting more symptoms of hyperactivity
- have a lower mean IQ
- are on medication more often
- do not show differences in gender
COMORBIDITIES
3) Sleep problems
- Sleep problems occur in 44% - 83% of school aged children with
ASD. Children with ASD significantly have at least one sleep
problem, sleep onset problems or night waking
4) Epilepsy
- Prevalence : 7% - 46%.
- It is increased with greater intellectual disability, symptomatic autism,
age, history of cognitive / developmental regression, use of
psychotropics medications and abnormality of electroencephalography
(EEG)
COMORBIDITIES
5) Gastrointestinal Problems
- Children with ASD are five times more common to have feeding
problems than those without ASD
- Types of feeding problems are food selectivity (54%), food refusal (21%),
behavioural rigidity during meals (17%) or their combinations (7%).
6) Motor Coordination
- Substantial motor coordination deficits occur in children with ASD across
all age groups. Handwriting is very important for academic progress and
social communication development.
- Adolescents with ASD are known to have poor handwriting.
COMORBIDITIES
7) Other Psychiatric Disorders
Prevalence of psychiatric disorders in children with ASD:
- 70.8% have at least one current psychiatric disorder with 57% having multiple diagnosis
- 62.8% have ADHD, emotional or behavioural disorders (oppositional defiant or
conduct)
- 24.7% have Tourette syndrome, chronic tics, trichotillomania, enuresis, or encopresis
(neuropsychiatric disorders)
- 41.9% have anxiety or phobic disorder
- 1.4% have depressive disorders
- 30% have oppositional or conduct disorder
*There is no substantial evidence on the prevalence of psychosis in children with ASD
INVESTIGATIONS
1) Audiological Evaluation
• Most children with ASD present with speech and
language delay.
• It is an important component of initial assessment in
order to rule out hearing impairment.
• Standard behavioural audiometric procedures are
difficult to apply in children with ASD. Behavioural
response in audiometric test is less reliable (≥15 dB) in
younger children with ASD.
• The electrophysiological tests used to evaluate hearing
impairment are: transient evoked otoacoustic emissions
(TEOAE), auditory brainstem evoked response
(ABR), acoustic reflexes (AR)
Other Investigations
2) EEG
• There is insufficient evidence to support the use of EEG in the
investigation of children with ASD without clinical seizures
3) Genetic/ Metabolic Investigations
• when there is a suspicion of syndromes such as Fragile X syndrome or
when there is dysmorphism or macrocephaly and/or association with
severe intellectual disability or global developmental delay.
4) Neuroimaging
• not routinely done in patients with ASD as a meta-analysis did not show
any difference in the brains of children with ASD and controls
TREATMENT
Applied Behaviour Analysis (ABA)
• Lovaas therapy and early intensive behavioural intervention variants
improve among others, social communication skills, language and
daily living skills, cognitive performance, language skills and adaptive
behavioural skill.
Occupational Therapy
Speech, Language and Communication Interventions
Other Interventions
Pharmacotherapy
• Children with ASD may be offered:
1) atypical antipsychotics as a short-term treatment for irritability
2) methylphenidate and atomoxetine for hyperactivity
3) melatonin for sleep difficulties
Atypical Antipsychotics
• It is preferred due to the reduced propensity of causing extrapyramidal
symptoms.
1) Risperidone
• Low dose risperidone (up to 2.5 mg per day in children weighing from
20 - 45 kg and up to 3.5 mg per day in those weighing over 45 kg)
may be beneficial in some features of ASD. A meta-analysis of three
RCTs in children with ASD suggested that short-term use of
risperidone significantly improved irritability, social withdrawal,
hyperactivity, and stereotypy.
• However, there was a higher risk of weight gain
2) Aripiprazole
• A meta-analysis of two RCTs in children with ASD suggested that
aripiprazole up to 15 mg per day might be efficacious in treating
irritability, hyperactivity, stereotypy.
• Adverse effects such as weight gain, sedation, drooling and tremor
may occur more often in the treatment group compared to those on
placebo
Social Welfare Service
• Children with ASD should be referred to the Department of Social
Welfare at their respective local districts.
• This will enable the child to be registered for benefits such as:
1) placement for special needs education if warranted
2) welfare support including financial allowances from the department
3) free services in the public sector
• The registration form should be completed by the medical
practitioner / medical officer at the point of diagnosis.