2. WHAT IS IT???
Autism Spectrum Disorder (ASD) is a complex disorder of brain
development
Is a spectrum of disorders characterized by persistent impairment
in reciprocal social communication and interaction, and
restricted, repetitive patterns of behavior or interests
Onset in childhood; continues into adulthood
Children and adults with ASD may communicate, interact, behave,
and learn in ways that are different than most people
Abilities of people with ASD can range from gifted to severely
challenged
3. EPIDEMIOLOGY OF ASD
1 in 68 children has an autism spectrum disorder
(CDC, 2014)
In low- and middle-income countries few studies
In Uganda prevalence is around 70/10000
Sex; more common in boys than in girls 4:1
4. PATHOGENESIS?? RISK FACTORS
Etiology is Unknown
Hypotheses
1. Genetic abnormalities
2. Obstetric complications
3. Exposure to toxic agents
4. Prenatal, perinatal and post natal infection
5. GENETIC FACTORS $ FAMILIAL FACTORS
Increase rates of ASD in sibling ,with an index child(18.7%) ,50% in
2 or more as well as a higher concordance rate (36-90%) in
monozygotic twin ,27% dizygotic twin (Ozonoff et. Al., 2011)
Closer spacing of pregnancies, advanced maternal (40yrs)or paternal
age(50yrs), and extremely premature birth (<26 wk gestational
age),maternal Rubella
Family members with learning problems, psychiatric disorders, and
social disability, have been identified as risk factors
Genetic factors e.g. fragile X syndrome ,X -linked recessive disorder
Gene in chromosome 2&7,16&17
6. NEUROBIOLOGY
FACTORS/NEUROIMAGING
Abnormalities of the brain
Frontal, temporal lobes and cerebellum
Enlargement of the Amygdala and the
hippocumpas
MRI- corpus callosum thinning
Poor neuronal connectivity in various
brain regions
Elevated dopamine and serotonin low
GABA
Exposure to thalidomide, misoprostol,
rubella, Valproic acid and chlorpyrifos
(organophosphate)
7. NEUROPATHOLOGY
Increase in brain volume with
marked abnormal growth in
frontal, temporal, cerebellar and
limbic regions
Early accelerated growth is
followed by abnormally slow or
arrested growth hence areas of
underdeveloped and abnormal
circuitry in parts of the brain
Areas of the brain responsible for
higher order cognitive, language,
emotional and social functions are
most affected
8. CLINICAL FEATURES: REMEMBER IT IS
A SPECTRUM
Is a spectrum of
disorders characterized
by persistent impairment
in reciprocal social
communication and
interaction, and
restricted, repetitive
patterns of behavior or
interests
9. CLINICAL FEATURES
Social Communication and Interaction Deficits :
impaired ability to engage in reciprocal social interactions
are hallmark
Deficits in social–emotional reciprocity (the ability to engage
with others and share thoughts and feelings) are evident
early
show little or no initiation of social interaction and little or
no sharing of emotions or imitative behavior
difficulties processing and responding to complex social
cues
10. SOCIAL COMMUNICATION AND
INTERACTION DEFICITS
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 rule
may prefer solitary activities and interactions with much
younger or older people
show deficits in empathy and understanding what another
person might be thinking
11. CLINICAL FEATURES
Restricted and Repetitive Patterns:
stereotyped movements (hand flapping, finger
flicking)
repetitive use of objects (spinning coins, lining up
toys)
abnormal speech (echolalia, delayed or immediate
parroting of heard words, pronoun reversal,
nonsense rhyming, idiosyncratic phrases)
12. RESTRICTED AND REPETITIVE PATTERNS
insistence on sameness and inflexible adherence to routines
or ritualized pattern (distress at small changes, insistence
on adherence to rules, rituals and routines, rigid thinking,
repetitive questioning)
highly restricted and fixed interests of abnormal intensity
or focus (e.g., strong attachment to or preoccupation with
unusual objects.
Extreme responses to specific sounds or textures, excessive
smelling or touching of objects, fascination with lights or
spinning objects, apparent indifference to pain, heat, or cold
13. SPECIFIES
With intellect and language impairment
Without language impairment
With a known medical or genetic condition or
environmental factor
Rett syndrome. Fragile X syndrome. Down syndrome),
a medical disorder (e.g. epilepsy), or a history of
environmental exposure (e.g., valproate, fetal alcohol
syndrome, very low birth weight)
14.
15. DIAGNOSIS
Age - 2nd year of life or earlier than 12 months if
developmental delays are severe.
Initial symptoms ,delayed language accompanied by lack
of social interest or odd play patterns
During the 2nd year, odd and repetitive behaviors and the
absence of typical play become more apparent Less
commonly (in 20-40% of cases), a period of apparently
normal development is reported before a loss of skills
In adolescence, a small number of individuals with ASD
make marked developmental gains; another subgroup will
deteriorate (self-injury, aggression
16. DIAGNOSIS MUST MEET DSM5 CRITERIA
A. Persistent deficits in social communication and
interactions
1. Social-emotional reciprocity
2. Nonverbal communication behaviors used for
social interactions
3. Developing, maintaining, and understanding
relationships
17. B. Restricted, repetitive patterns of behavior,
interests, and activities (at least TWO of the
following):
1. Stereotyped or repetitive motor movements, use of
objects, or speech
2. Insistence on sameness, inflexible adherence to
routines, or ritualized patterns of verbal or
nonverbal behavior
3. Highly restricted, fixated interests
4. Hyper- or hypo-reactivity to sensory input or
unusual interest in sensory aspects of
environment
18. c. Symptoms must be present in the early
developmental period (but may not become fully
recognized until social demands exceed limited
capacities)
d.Symptoms cause clinically significant impairment in
social, occupational, or other important areas of
current functioning
19. WHEN TO MAKE A DIAGNOSIS?
Research has shown that ASD can be diagnosed as early as 1 year of age
No big smiles or other warm, joyful expressions by six months or
thereafter
No back-and-forth sharing of sounds, smiles or other facial expressions
by nine months
No babbling by 12 months
No back-and-forth gestures such as pointing, showing, reaching or
waving by 12 months
No words by 16 months
No meaningful, two-word phrases (not including imitating or repeating)
by 24 months
Any loss of speech, babbling or social skills at any age
21. DEVELOPMENTAL SCREENING
All children should be screened for developmental delays
and disabilities during regular well-child doctor visits at:
9 months
18 months
24 or 30 months
Additional screening might be needed if a child is at high
risk for developmental problems due to preterm birth, low
birth weight or other reasons.
22. SCREENING CONT.
In addition, all children should be screened
specifically for ASDs during regular well-child doctor
visits at:
18 months
24 months
Additional screening might be needed if a child is at
high risk for ASDs (e.g., having a sister, brother or
other family member with an ASD) or if behaviors
sometimes associated with ASDs are present
23. COMPREHENSIVE EVALUATION
This thorough review may include looking at the
child’s behavior and development and interviewing
the parents.
May also include a hearing and vision screening,
genetic testing, neurological testing, and other
medical testing.
24. ASSESSMENT CONTINUE
Early assessment and intervention are crucial to progress
WHO?
1. Trained professionals
2. Psychologists, Neurologists, Pediatricians, Psychiatrists
3. Field less important than expertise
Diagnosis vs. Eligibility
Interdisciplinary is best
Developmental history, observations, direct interaction, parent
interview, evaluation of social, communication, sensory, emotional,
cognitive and adaptive behavior.
25. TREATMENT
Goals
Maximize functioning
Move the child toward independence
Improve the quality of life for the child and family Improve
social functioning and play skills
Improve communication skills
Improve adaptive skills
Decrease nonfunctional or negative behaviors
Promote academic functioning
26. PSYCHOLOGICAL TREATMENT
ABA (Applied Behavior Analysis) is the most widely used treatment of
ASD with a large database of empirical evidence to support its
practice.
It involves intensive one-on-one or small group cognitive-
behavioural training. Essentially a teacher or caregiver can condition
these children to communicate better and apply newly developed
skills in a social or academic setting.
IBI (intensive behavioral intervention) is quite similar to ABA, but it
is done by a trained behavioral analyst, it includes intensive
behaviour therapies designed to fit each client and IBI prepares ASD
children for school (usually entering kindergarten)
30. CONCLUSION
Important to start treatment as soon as the diagnosis
is made
Early intervention makes a very big difference!!
Teamwork >>> Partner together
Speech therapy
Occupational therapy
Physical therapy
Behavior intervention therapy
Challenge to treat due to comorbidities
31. PROGNOSIS
Lifelong
IQ>70 who develop communication skills by age 5 to
7 years has best prognosis
Supportive home environment good prognosis
Delayed diagnosis and intervention results into poor
outcome
