- Autism spectrum disorder (ASD) is characterized by difficulties with social communication and interaction, and restricted or repetitive behaviors and interests. - Risk factors include genetic predisposition and environmental factors during prenatal development such as maternal infection, diabetes, or medication use. - Early diagnosis before age 3 allows for early intervention which can improve outcomes. Screening tools such as M-CHAT are used to identify children at risk. - Treatment includes applied behavior analysis, speech therapy, medication management, and educational programs to improve skills and manage symptoms.

1. Dr.ANJANA.K.S
Dr. ANJANA .K.S

2. INTRODUCTION
The essential features of Autism Spectrum Disorder are
-persistent impairment in reciprocal social communication
and interaction,
-restricted, repetitive patterns of behavior or interests
ASD encompasses disorders previously referred to as early
infantile autism, childhood autism, Kanner autism, high
functioning autism, atypical autism, Asperger disorder, childhood
disintegrative disorder, and pervasive developmental disorder not
otherwise specified.
Prevalence -11.3/1000
Male : female - 4:1

4. HISTORY……….
• 1911 Swiss psychiatrist Eugen Bleuler coins the word autism — from
the Greek autos, meaning “self” — to describe extreme self-
obsessiveness and anti-social behavior in children.
• 1943 Leo Kanner publishes the first case studies of autism as a
medical condition.
• 1944 Austrian scientist Hans Asperger describes a disorder called
Asperger’s syndrome, which, in older diagnostic criteria, had similar
but milder symptoms than autism.
• 1980- The third edition of the Diagnostic and Statistical Manual of
Mental Disorders includes autism for the first time.
• 2013 The fifth edition of the DSM merges classic autism, Asperger’s
syndrome, childhood disintegrative disorder and PDD under the ASD
umbrella

5. ETIOLOGY & RISK FACTORS
• GENETIC AND FAMILIAL FACTORS
-May be the most significant cause for ASD spectrum disorders.
-Early studies of twins had estimated heritability to be over 90%.
• A common hypothesis-ASD developes due to interaction of a genetic
predisposition and an early environmental insult.
• EPIGENETIC MECHANISMS
- may increase the risk of ASD.
-Epigenetic changes occur as a result not of DNA sequence changes
but of chromosomal histone modification or modification of the DNA
bases.

6. • PRENATAL ENVIRONMENT:
-The risk of ASD increases with advanced age in either parent,
diabetes, bleeding, and use of psychiatric drugs in the mother during
pregnancy.
• INFECTIOUS PROCESSES:
- Prenatal viral infection - the principal nongenetic cause of ASD.
- Prenatal exposure to rubella or CMV activates the mother's immune
response and greatly increases the risk for ASD.
• TERATOGENS:
- Some potential ASD risk factors-thalidomide,misoprostol,valproate
• THYROID PROBLEMS:
- Thyroxine deficiency in the mother in weeks 8–12 of pregnancy
have been postulated to produce changes in the fetal brain leading to
ASD.
• MATERNAL DIABETES :
- A meta-analysis found that gestational diabetes was associated
with a twofold increased risk.

7. • LOCUS COERULEUS–NORADRENERGIC SYSTEM:
- Autistic behaviors depend at least in part on a developmental
dysregulation that results in impaired function of the locus coeruleus–
noradrenergic (LC-NA) system.
• AMYGDALA NEURONS:
- An early developmental failure involving the amygdala cascades
on the development of cortical areas that mediate social perception in
the visual domain.

8. REDEFINING AUTISM: DSM-IV - DSM-V
. The former subtypes of autism – including autistic disorder,
Asperger syndrome and PDD-NOS – are now folded into one
broad category of Autism Spectrum Disorder .
2. Rather than 3 categories of symptoms (social difficulties,
communication impairments and repetitive/restricted
behaviors)- now two – social-communication impairment and
repetitive/restricted behaviors.
3. Children with social-communication impairments who
don’t have two or more types of repetitive/restricted behavior
receive the new diagnosis of social communication disorder
(SCD).

10. SOCIAL COMMUNICATION AND INTERACTION
DEFICITS
-Aberrant development of social communication
-Impaired ability to engage in reciprocal social interactions.
• Deficits in social–emotional reciprocity are evident early in
children with ASD
• PRESENTS as
-Abnormal social approach
-Failure of back-and-forth conversation
- Difficulties processing and responding to complex social
cues

11. • Impairments in nonverbal social communication are manifested
by
-absent, reduced, or atypical use of eye contact, gestures, facial
expressions, body orientation, or speech intonation.
• Abnormal eye contact with failure to follow someone’s pointing or
eye gaze is characteristic
• If with fluent language, poorly integrated verbal & nonverbal
communication may result in odd or exaggerated body language
during social interactions
• May demonstrate absent, reduced, or atypical social interest-
-Rejection of others, passivity, or inappropriate approaches that seem
aggressive and disruptive.
-lack of shared, age-appropriate flexible pretend and symbolic play
is seen, with children often insistent on playing by very fixed rules.

12. • Children with ASD may prefer solitary activities and
interactions
• Establish friendships without complete understanding of the
components of friendship can be seen in some children,
while an absence of interest in peers may be seen in others.
• Some show deficits in empathy and understanding what
another person might be thinking.

13. RESTRICTED AND REPETITIVE PATTERNS
• The second core characteristic of ASD is restricted,
repetitive patterns of behavior, interests, or activities
• These include
- stereotyped movements (hand flapping, finger flicking)
-repetitive use of objects (spinning coins, lining up toys)
- repetitive and abnormal speech [delayed or immediate
parroting of heard words]
-pronoun reversal,(nonsense rhyming, idiosyncratic phrases)
-

14. -insistence on sameness and inflexible adherence to routines
or ritualized patterns of behavior
-highly restricted and fixed interests of abnormal intensity
or focus (e.g., strong attachment to or preoccupation with
unusual objects
-hyper- or hyporeactivity to sensory input or unusual interest
in sensory aspects of the environment (e.g., extreme
responses to specific sounds , excessive smelling or touching
of objects, fascination with lights or spinning objects

15. SYMPTOMS OF ASD

21. SOCIAL COMMUNICATION DISORDER
● Must meet the following criteria:
○ Persistent difficulties in social use of verbal/nonverbal communication
manifested as:
■ for social purposes
■ inability to change communication to match the context/needs
of the listener
■ difficulty following rules of conversation and storytelling
■ difficulty understanding inferences, nonliteral, and ambiguous
meaning of language
○ Deficits result in functional limitations in communication, participation
, social relationships, academics, or occupational performance
○ Onset is in early developmental period
○ Symptoms/deficits cannot be explained by other medical/neurological
conditions

22. D
I
A
G
N
O
S
I
S

23. IMMEDIATE EVALUATION IF…..
• 6 months
• No big smiles or warm, joyful expressions
• 9 months
• No back and forth sharing of sounds, smiles, etc
• 12 months
• No consistent response to his/her name
• No babbling
• No back and forth gestures, such as pointing showing, reaching,
waving, or three-pronged gaze
• 16 months
• No words
• 24 months
• No two-word meaningful phrases (without imitation or repeating)

24. SURVEILLANCE VS. SCREENING TIMELINE
● Recommend surveillance at each well visit
- Ask parents about child’s developmental milestones and/or
concerns
-“Is Your One-Year-Old Communicating With You?” at 9 or 12-
month visit
● Recommend that all children be screened with a standardized
developmental tool at specific intervals, regardless of whether a
concern has been raised or a risk has been identified:
- 9 or 12 months; 18 months; 24 months OR 30 months.
- Additional screenings recommended for hıgh-rısk chıldren (e.g.
relative with ASD) or when parents express concerns

25. SCREENING “AT RISK” CHILDREN
● Under 18 months - nothing available for routine screenings
-Infant/Toddler Checklist from Communication &
Symbolic Behavior Scales Developmental Profile
● Over 18 months - many available screeners, categorized as
“level 1” or “level 2”
- Level 1- administered within a well visit, differentiate
children at risk for ASD from typical peers ex. MCHAT
- Level 2- administered/used in developmental clinics,
differentiate children at risk for ASD from other
developmental disorders

26. POSITIVE (+) SCREENING:
○ Refer for a comprehensive diagnostic evaluation:
-Developmental pediatrician
-Pediatric neurologist
-Pediatric psychologist or psychiatrist
○ Provide parental education
-Reading materials on ASD
-“Wait and see” NOT recommended
○ Refer for audiologic evaluation

27. SCREENING TOOLS
Modified Checklist for Autism in Toddlers :
MCHAT
-Screening test for 18-36 month old children of concern
-5-10 min to administer and score
-yes/no questions for parent
-No specific training needed

29. • SCORING ALGORITHM
- LOW RISK = total score 0-2 ; if child is younger
than 2yrs , screen again after second birthday .
No further action required

30. - MEDIUM RISK = total score 3–7 ; administer
follow up [ 2nd stage M-CHAT-R/F ] to get additional
info. About at risk responses , if M-CHAT-R/F score
remains at 2 or higher , then the child has screened
positive .
Action required – refer child for diagnostic evaluation
and eligibility evaluation for early intervention .
If score on follow up is 0-1 , child has screened
negative . No further action required unless
sruveillance indicate risk for ASD , child shud b
rescreened at future well- child visits

31. • HIGH-RISK: Total Score is 8-20;
It is acceptable to bypass the Follow-Up and refer immediately
for diagnostic evaluation and eligibility evaluation for early
intervention

32. • Autism Diagnostic Interview, Revised- ADI-R
○ Children and adults with a mental age above 2.0 years
-Useful for diagnosing autism, planning treatment, and
DD’s of autısm from other developmental disorders
○ Standardized Parent/Caregiver interview:
Focusing on: reciprocal social interaction; communication
& language; repetitive & stereotyped behaviors
○ Training required for use of ADI-R
○ ~ 90 - 150 minutes to administer & score

33. • Childhood Autism Rating Scale-CARS
Most widely used dx instrument*
○ ~ 24 months - childhood ages
○ Direct observations to identify autism and determine
symptom severity.
Two 15-item rating scales (Standard/High-Functioning)
Parent/caregiver questionnaire
○ Training required for use of CARS
○ ~ 15 minutes to administer & score

35. • Consider the following DD;s for ASD
Neurodevelopmental disorders:
• specific language delay or disorder
• intellectual disability or global developmental delay
Mental and behavioural disorders:
• attention deficit hyperactivity disorder (ADHD)
• mood disorder
• anxiety disorder
• oppositional defiant disorder (ODD)
• conduct disorder
• obsessive compulsive disorder (OCD)

36. Conditions in which there is developmental regression:
• Rett syndrome
• Epileptic encephalopathy.
Other conditions:
• severe hearing impairment
• severe visual impairment

37. WHY IS EARLY DIAGNOSIS IMPORTANT?
● Intervention provided before age three has a much
greater impact than intervention provided after 5 yrs
● May help speed the child’s overall language development
● Improvement in IQ scores
● Gains in initiation of spontaneous communication
● Lead to better long-term functional outcomes

38. TREATMENT
- NONPARMACOLOGICAL INTERVENTIONS.
- MEDICAL MANAGEMENT.

40. PSYCHOSOCIAL INTERVENTIONS
• Applied Behavioral Analysis (ABA)
• -works to systematically change behavior based on
principles of learning derived from behavioral psychology
and encourages positive behavior as well teaching new
skills.
• 3 STEPAPPROACH
• Antecedent: The verbal or physical stimulus such as a
command or request.
• Resulting Behavioral response to stimulus or a lack of
response
• Consequence: the positive reinforcement or no response for
inappropriate behavior

41. • Speech Therapy:
- with a licensed speech-language pathologist
- help to improve a person’s communication skills, allowing better
expression
. -individuals with ASD who are nonverbal, the use of gestures and
sign language are useful.
• Occupational Therapy (OT):
-used as a treatment for the sensory integration issues associated
with ASDs.
-Improves the individual’s quality of life and ability to participate
fully in daily activities.
• 4- Physical Therapy (PT):
- to improve gross motor skills and handle sensory integration
issues, particularly ability to feel and be aware of his body in space.

42. • Play therapy
- a type of behavior modification used to improve emotional
development, social skills and learning.
-Play therapy involves adult-child interaction
• Floor Time
- a child’s communication skills can be improved by building on
his/her strengths while playing together on the floor.

44. INTEGRATED PLAY GROUPS
• Promotes socialisation & imagination
• Integrated play groups follow rules
- for creation of an appropriate play environment
-selection of materials for play
-preparation of peers for play,
-measurement of progress
-

46. TRAINING AND EDUCATION OF AUTISTIC AND
RELATED COMMUNICATION FOR HANDICAPPED
CHILDREN-TEACCH
• This is a highly structured program.
- Refers to the “relative strengths and difficulties shared by
people with autism and that are relevant to how they learn.
• In this children are evaluated to determine emergent skills
and intervention is designed to build on these skills.
• The intervention plan is developed for each individual child
to help plan activities and experiences.
• The child refers to visual supports such as picture
schedules to help them predict and cope with daily
activities.

47. SOCIAL COMMUNICATION, EMOTIONAL
REGULATION, AND TRANSACTIONAL SUPPORT-
SCERTS
• Social Communication:
- spontaneous functional communication,
- emotional expression
- secure and trusting relationships with others
• Emotional Regulation

48. MEDICATIONS

49. SSRI &TRICYCLICS
-might reduce the frequency and intensity of repetitive behaviors;
decrease anxiety, irritability, tantrums, and aggressive behavior; and
improve eye contact.
PSYCHOACTIVE OR ANTI-PSYCHOTIC MEDICATIONS
- Can decrease hyperactivity , stereotyped behaviors, withdrawal
and aggression
- RISPERIDONE is approved for reducing irritability in 5-to-16-
year olds with autism.
- if weight <20kg, initial dose -0.25mg/day ,target dose-.5mg/d
,max-3mg/day
-if weight >20kg,initial dose-0.50mg/day ,target dose-1mg/d
,max3mg/day
-ARIPIPRAZOLE
-initial dose-2mg/day,target dose-5-10 mg/d ,max 15mg/d

50. STIMULANTS
- Help to increase focus and decrease hyperactivity
- Particularly helpful for those with mild ASD symptoms.
ANTI-ANXIETY MEDICATIONS
ANTI-CONVULSANTS
-Almost one-third of people with autism symptoms have
seizures or seizure disorders
• INTRANASAL OXYTOCIN
- is a novel approach to treating ASD.
-IO leads to increased social interactions, better speech
comprehension, reduced repetitive behaviors, and functional
MRI evidence of improved social attunement.

51. • Communication Therapy
-for people who are unable to communicate
verbally, or to initiate language development in
young children with the disorder.
• Picture exchange communication systems
(PECS)
-enable autistic people to communicate using pictures
that represent ideas, activities, or items.
-The individual is able to convey requests, needs,
and desires to others by simply handing them a
picture.

52. STEM CELL THERAPY
• New effective approach to treating ASD
• Based on the unique ability of stem cells to influence metabolism,
immune system and restore damaged cells
• TARGETS:
1. Immunity.
2. Metabolism.
3. Communication ability.
4. Learning capacity, memory, thinking.
• Improvement is reached through
- restoration of the lost (impaired) neuron connections
- formation & development of new neuron connections
- speeding up brain reactions through improvement of synaptic
transmission

53. • Improvements in ASD After the Stem Cell Therapy:
1. Better tolerance of different foods and improved digestion.
2. Easier contact with the child (first of all, eye contact).
3. More adequate behavior at home and outside.
4. Less or no fear of loud noises, strangers and bright colors
5. Improved verbal skills.
6. Writing skills improvement or development.
7. Improved self-care skills.
8. Improved attention span and concentration.

54. PROGNOSIS
• Some children with autism may improve at 4-6 years of age
especially those with mild autism who have been treated at
an early age.
• Current policy of inclusion within the education system
helps to support the majority of ASD sufferers within
mainstream schools.
• Poor prognostic factors
-co-existing mental retardation.
-environmental toxins
-advanced parental age
- diseases that co-exist with autism like Fragile syndrome,
Down’s syndrome etc

55. T
H
A
N
K
Y
O
U