Autism

1. Definition
a. Highly variable condition (wide spectrum of severity) of behavioural &
social problem
b. Pervasive- permanently exhibited
c. Independent of time & place
d. Before age of 3
2. Epidemiology
a. 1 in every 2000 children
b. Males 4;1
c. Before age of 3
d. 1 in 4 develop epilepsy
e. 1 in 3 have learning disability, but not always the case
f. Speech developed later in life, communication remains impaired
3. Triad of impairments
a. Communication
b. Social interaction
c. Unusual behavior & interest
d. Joint attention point at object and look alternatively between object
and other person to direct their attention to object of interest
e. Will he take an object to his parents to show them because he thinks it
is interesting or will he only take them something if he needs help?
4. Impaired social interaction
a. Poor eye contact
b. Facial expression, body posture, gesture not keeping with interaction
c. Failure to develop mutual friendship
d. Unable or less able to appreciate or interpret or respond to emotion
5. Impaired language & communication
a. Delay in spoken language (18 months) without gesturing or babbling
as a method of compensating
b. Unable to communicate effectively
c. Abnormal pitch, rate, rhythm, tone
d. Repetitive, scripted speech or echolalia (parroting back speech)
6. Stereotyped, restrictive behaviours
a. Stereotyped motor behavior
b. Pre-occupation & lack of imagination (spinning wheel of car rather than
driving car)
c. Ritualistic & is distressed if deviating from set routine
7. Aetiology
8. Diagnostic criteria
a. DSM-5 from early childhood, limit everyday functioning
9. Diagnosis
a. History from mother
b. Observation of child
i. Level of activity
ii. Interaction with mother
iii. Interaction with examiner Eye contact
iv. Communicate- single words, phrases or sentences?
 v. Does he point at objects in the room? Does he use gestures?
vi. Does he smell objects? sensory preoccupation/sensitivity
c. Assessment of child
i. Growth parameter- head circumference
ii. Dysmorphic features
iii. Motor stereotypes (hand flapping, toe walking, unusual
repetitive behavior)
d. Use of standardized tool
i. Developmental screening
ii. ASD specific screening
e. Review old history
10.Signs
11.Red flag
a. No babbling or pointing or other gestures by 12 months
b. No single words by 16 months
c. No two-word spontaneous phrases by 24 months
d. Loss of language or social skills at any age
12.Investigation
a. No blood test, neuroimaging
b. EEG to exclude seizure, acquire aphasia with convulsive disorder
(Landau-Kleffner syndrome)
c. Polysomnography to identify sleep disorder
13.Treatment
a. Treat behaviourly reduce unhelpful behaviours & promote good
communication skill
b. Non pharm
i. Special education
ii. Speech & language therapy (auditory integration training,
sensory integration therapy)
iii. Occupational therapy adapt to their difficulty
iv. Social skill training
v. Support & educate family
c. PharmMedication- only to control outbursts of excitement or
aggression// for behavioural problem & comorbid disorder (self-injury,
movement disorder)
i. SGA- Risperidone
ii. SSRI- Fluoxetine
iii. Stimulant- Methylphenidate
14.Prognosis
a. Continues for life
b. Difficult to predict outcome
15.Differential diagnosis
a. Autism spectrum disorder
b. Hearing problem
c. Speech/language delay
d. Cognitive impairment/ global developmental delay
e. General learning disability
Approach

1. Purpose
a. Confirm diagnosis
b. Rule out other cause for unusual behavior
c. Assess childs strength & weakness
d. Assess familys resource
2. Introduction
3. Presenting complaint
4. History of presenting complaint
a. Communication (developmental regression, language delay, absence
of typical responses to pain)
i. Is the child able to speak at the same level as others his or her
age?
ii. Does the child ever bring parents items that are of obvious interest
or enthusiastically engage with parents to point out objects or
events?
iii. Without making eye contact, will the child take a parent's hand
and guide the parent to a desired object instead of asking for it?
iv. Can the child follow simple commands?
v. Does the child respond to his or her name?
vi. How does he respond to pain or physical injury?
vii. Does the child have any unusual speech patterns, such as
repeating heard phrases over and over (echolalia), pronoun
reversal, or using a monotone voice?

b. Social interaction (abnormal social interaction)

i. How is his interaction with other kids? (play in school)
ii. Is the child interested in social interaction, or does the child
distance himself or herself from others?
iii. Does the child make and sustain eye contact?
iv. Does the child have a social smile that he or she initiates or
responds with to others' gestures?

c. Repetitive behavior/ interest (abnormal reaction to environmental

stimuli, absence of symbolic play)
i. How is his behavior? (hyperactive/ does not follow direction/
extreme tantrums that often self-injured/ difficult with changes/
transition )
ii. Does the child have an attachment to any unusual objects, such as
a hard, metal object, rather than a blanket or stuffed animal?
iii. Does the child stare frequently?
iv. Has the child ever had any seizures?
v. Does the child play with toys in an unusual manner?
vi. Does the child play "pretend" (if older than age 2)?--> symbolic
play
vii. Does the child have severe temper tantrums that can last a long
time?
 d. Response to intervention/ Improvement

5. Past psychiatric history

6. Past medical / surgical history
a. Epilepsy
b. Visual impairment
c. Hearing impairment
d. Mental health- depression, anxiety, OCD
e. Learning disability
f. Genetic disorder
g. Sleep disorder
7. Drug/ allergy
8. Substance abuse
9. Family history
a. Parents
i. What are the parents' occupations and education? Other
resources?
ii. Is there a family history of mood or anxiety problems?
b. Siblings
i. Are any other siblings developmentally disabled in any way? Have
they had problems developing language skills?
10.Personal history
a. Birth & development
i. How was the mother's general health during pregnancy? Was she
exposed to infection? Did she drink alcohol, smoke, or use drugs?
ii. How was the child delivered, and were there problems during
delivery?
iii. How much did the child weigh, and did he or she have problems
after birth?
iv. How was his newborn hearing screen test?
b. Childhood life
i. How was his development? What time did he start talking,
walking? Had it been normal then suddenly regresss? Or it just
delayed? Developmental delay language!!
ii. Any illness? Like otitis media?
iii. How did he let you know what he wants/needs?
iv. Did he make eye contact?
v.
c. Education & school
d. Occupation
e. Relationship
f. Psychosocial
11.Forensic history
12.Premorbid personality

Physical examination
 1. Growth parameter- head circumference (small at birth, increase from 6 oths
to 2 years, nomrla in adolescence)
2. Dysmorphic features
3. Abnormal motor movement
4. Orofacial, extremity, head/trunk motor stereotypes (hand flapping, toe
walking, unusual repetitive purposeless behavior, sound, posture, motion)
5. Dermatologic anomaly (aberrant palmar creases)
6. Self-injury behavior (picking at skin, self-biting, head pnching/slapping)
7. Physical abuse by others; sexual abuse

https://www.fastbleep.com/medical-notes/o-g-and-paeds/10/224

http://patient.info/doctor/autistic-spectrum-disorders-pro

https://www.cdc.gov/ncbddd/actearly/autism/curriculum/documents/making-autism-
diagnosis_508.pdf