3abcde-Fgh of Autism3
3abcde-Fgh of Autism3
3abcde-Fgh of Autism3
B behaviour
C cognition connection communication
D disorder
Dr Kondekar Santosh V
Associate Professor Pediatrics
T N Medical college Mumbai
theories 6
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From Genetics- like
fragile X 7
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GENES
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to quasi genetics 9
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To epigenetics 10
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Whatever way it happens,
the result is faulty / deficient neuronal
connections in developing brain
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• Incomplete / Under-developed /excess
• Receiver neurons, central neurons, interneurons
• Chemical, physical,functional, electrical disconnections,
dissociations, disturbances
Faulty Neuronal
connections 12
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Now autism is no longer a psychiatric disease but a
Neuro Developmental Disorder
Every pediatrician SHALL take care off.
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A sensory CP, the sense is missing
One time deficit in
some group of sensory- connecting neurons
Input –processing-output 14
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POSSIBILITY OF CONNECTIONS IS ENDLESS AS WIDE
AS AUTISM SPECTRUM
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Sense-ory Pathways 16
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Internal Sense-ry Integration 17
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The sensory network.. #MakingSense 18
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The true or Internal sensory integration .. That builds
cognition 19
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• Immunity
• Infection
• Inflammation
• Toxins
• Oxidative stress or cytokines FAILING
• Dietary deficiency THEORIES
• Dysbiosis** / Probiotics
• Metabolic diseases
• All above theories- it shall progress
Autism is a developmental deficit that turns into disorder due
to sensory discordance, the sense is not interpreted in sensory
way due to paucity of speed or connections
• THESE DO PROGRESS…
• When the symptoms are best explained by any known
disease or abnormality as above, it shall be called by its
name and not as Autism Spectrum Disorder.
• This is the biggest change with DSM 5 Autism criteria E
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OVERLAP 24
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Pathogenesis of DSM 5 symptom profile sequence in autism spectrum
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DEVELOPMENTAL TRAJECTORIES
BUT IT ALL STARTS BEFORE AGE 5 YEARS ANY TIME UPTO AGE
OF CONCEPTION
• Processing deficit
Intell
ectua • Presents with less understanding, mimicks
lly autism
disab
led
Minor software issues involve few fibres so needs special MRI like DTI or fMRI
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Control centers
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Sensing the senses: 5 senses
Presents as hypo
hyper or normal
sensitivity to any
sense often present
but not must
vision, hearing, touch/pain/temperature,
taste, smell
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Two special senses: Sense the
Sensory
• vibration/ vestibular and proprioception/ balance
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Two hidden senses: Sense the
Sensory • Sense of breathing > >> Repeated cough
• Sense of indigestion or gut movements >>>
indigestion constipation
All 9 SENSES, PRESENT AS LOW OR HIGH RESPONSE
Sensory Diversion
AUTISM BASICS 37
DRKONDEKAR 9869405747 07/24/2024
• Dsm 5 perspective
• Diagnostic dilemma: flags/screening/differentials and
delays
• Diagnostic tools
• Defining autism / denying diagnosis
• Legal implications
• Symptoms to guide treatment /tests
Objectives
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• In 2013, autism diagnostic criteria is changed and its no
longer just autism but it also includes many autism like
conditions of behavior and communication , and that
makes us see cases rising too.
• So its now called a spectrum, means a large number of
spectrum will be close to normal and independent.
A 2: any 1
deficit in nonverbal
communication 44
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A3.1 Deficit in developing maintaining and
understanding relationships
A3.2 Difficulty adjusting behavior to suit various social
context
A3.3 Difficulty in sharing imaginative play or making
friends
A3.4 Absence of interest in peers
B1 Repititive
B2 Fixed/rigid
B3 Object fascinations
B4 Sensory issues
B of autism: any 2
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B1.1 Use of objects
B2.2 Simple motor stereotypes
B2.3 Lining up toys
B2.4 Flipping objects
B2.5 Echolalia
B2.7 Idiosynchratic phrases
obsessions
E of autism
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• Frequent close follow up management in every child
with autism label is important along with early active
interventional therapy..
• With a follow up plan with a follow up diary to be
charted weekly without spending more than 5 min
• No change in hundred days with any plan should make
one change the experts involved.
F of autism
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• Goals are most important
• Simple achievable frequent modifiable
• Definite 3 to 5 goals
• To be planned in steps each month
• And work towards it
• They will be met with hardwork, keep target 100 days.
• Not met, don’t give up.. Modify goals, work hard, change
experts
G of autism
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• Hope takes us forward
• Each goal puts you thro hopes
• See the change, record the change, believe the change
• Hope for the next best
• Ask for more
H of autism: hope 56
DRKONDEKAR 9869405747 07/24/2024
And we do see often
Intermittent: indigestion,
irritability, constipation 57
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• Click http://bit.ly/Autismgroup
J of Autism
Join a Support Group 58
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www.
Neuropediatrician.com 60
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Early detection red flags 61
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Detailed neuropediatric and developmental assessment
Noting clinical markers towards aetiology delay or
differential diagnosis
Multidisciplinary assessment
DSM IV – ISAA CARS INCLEN, TABC
DSM V – INCLEN Modified, 3Di, ADOS2, DISCO 11
Diagnosis is purely clinical based on questionaires and ruling
out other diagnoses
HIGH SENSITIVITY OF DIAGNOSIS IS IMPORTANT TO
START EARLY INTERVENTIONS.
Diagnostic tools 62
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10% OF TOTAL AUTISM CASES ARE GENETIC
3% ARE FRAGILE X
Genetic /metabolic
syndromes 63
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EVOLVING AUTISM
AS OFTEN THE SYMPTOM, COMPLEX IS NOT FULLY
ELICITABLE AS PER QUESTIONARES, MANY
EXPERTS REFRAIN FROM LABELLING AS AUTISM.