Terminology, epidemiology, and pathogenesis of autism phc,dammam
and pathogenesis of autism
DR. NOOR ALMADAWI,
ASDs are a range of neurological
disorders marked by impairment
in social functioning,
and repetitive and unusual patterns of behavior.
(Autism Society of America, 2008)
Leo Kanner, in 1943 described 11
―Autistic disturbances of affective contact‖
Poor social skills
Quantitative and qualitative defects of
Professional, high achieving parents
Coined the term, Refrigerator mother
Hans Asperger, in 1944, described ―autistic psychopathy‖
Poverty of social interaction
Failure of communication
Oddities of non-verbal communication – gaze aversion, prosody
Similarities between the parents and children
Resistance to change
• Communication is defined as:
According to the Webster Dictionary
communication is defined as a
act of connecting with
conveying either by verbal or non verbal.
Webster Dictionary, Published 1997, Landoll. Inc
• Language, we all have a gift of speaking
• Using the right words at the right time.
• Account for all the words you say and
• Saying the right thing at the wrong time.
• Body Language
• What message are you giving by your
• Judging by visual expressions
• Saying a positive thing with a negative
• Biologically based
characterized by impairments in
three major domains:
• And behavior.
Pervasive Developmental Disorders. In:
American Psychiatric Association.
Diagnostic and Statistical Manual of
Mental Disorders, Fourth Edition, Text
Revision (DSM-IV-TR®). American
Psychiatric Association, Washington, DC
2000. p. 70.
Triad of Autistic
Impairment of social
Impairment of language
Impairment of flexibility
Autistic Individuals don’t see the big picture
• The majority of studies conducted from the
mid-1990s indicates a prevalence of
approximately 1 in 1000 for autism and 2 in
1000 for ASD, compared to 0.4 to 0.5 per
1000 in previous decades
• NOW::::::2009 __________ 1 IN 91
• 100,000 saudi child has autism in 2008
• Now: in saudia arabia 1 every 144 is autistic
• Four times more prevalent in boys than in
National Autism Association
Article Date: 07 Oct 2009 - 2:00 PDT
These disorders include
Autistic disorder (classic autism, sometimes called
early infantile autism), Childhood Autism, or
Childhood disintegrative disorder
Asperger’s disorder (also known as Asperger
Pervasive Developmental Disorder, Not Otherwise
Specified (Pdd-nos), Including Atypical Autism
specific criteria to diagnose autistic
Diagnostic criteria for autistic disorder
A B C
1. Qualitative impairment in social interaction, as manifested by
at least two of the following:
a. Marked impairment in the use of multiple nonverbal behaviors
such as eye-to-eye gaze, facial expression, body posture, and
gestures to regulate social interaction
b. Failure to develop peer relationships appropriate to
c. A lack of spontaneous seeking to share enjoyment, interests, or
achievements with other people (e.g , by a lack of showing,
bringing, or pointing out object of interest)
d. Lack of social or emotional reciprocity
A. A total of 6 or more items from 1., 2., and 3., with at least two from 1.,
and one each from 2. and 3.:
• 2. Qualitative impairments in communication as
manifested by at least one of the following:
a. Delay in, or total lack of, the development of
spoken language (not accompanied by an attempt
to compensate through alternative modes of
communication such as gesture or mime)
b. In individuals with adequate speech, marked
impairment in the ability to initiate or sustain
conversation with others
c. Stereotyped and repetitive use of language
or idiosyncratic language
d. Lack of varied, spontaneous make-believe
play or social imitative play appropriate to
• 3. Restricted repetitive and stereotyped patterns
of behavior, interests, and activities, as
manifested by at least one of the following:
a. Encompassing preoccupation with one
or more stereotyped and restricted patterns of
interest that is abnormal either in intensity or
b. Apparently inflexible adherence to specific,
nonfunctional routines or rituals
c. Stereotyped and repetitive motor
mannerisms (eg hand or finger flapping or
twisting, or complex whole-body movements
d. Persistent preoccupation with parts of
Screening tools for autism
• Screening is defined as a brief, formal,
standardized evaluation, the purpose of
which is the early identification of
patients with unsuspected deviations
• A screening instrument enables detection of conditions/concerns
that may not be readily apparent without screening.
• Screening does not provide a diagnosis; it helps to determine
whether additional investigation (e.g, a diagnostic evaluation) by
clinicians with special expertise in developmental pediatrics is
Several screening tools have been
developed for use in children younger than
three years of age
• Checklist for Autism in
• Quantitative Checklist for
Autism in Toddlers (Q-CHAT)
• Modified Checklist for Autism
in Toddlers (M-CHAT)
• Checklist for Autism in
• Pervasive Developmental
Disorders Screening Test II,
Primary Care Screener
• Screening Tool for Autism in
Johnson, CP, Myers, SM. Identification and evaluation of children
with autism spectrum disorders. Pediatrics 2007; 120:1183.
Checklist for Autism in Toddlers (CHAT <18m
• Section A - Ask Parent:
• Yes or No?
• ____ 1) Does your child enjoy being swung( , bounced on
your knee, etc?
• ____ 2) Does your child take an interest in other children?
• ____ 3) Does your child like climbing on things, such as up stairs?
• ____ 4) Does your child enjoy playing peek-a-boo /hide-
• ____ *5) Does your child ever pretend , for example, to make a
cup of tea using a toy cup and teapot, or pretend other things?
• ____ 6) Does your child ever use his/her index finger to point, to ask
• ____ *7) Does your child ever use his/her index finger to point, to
indicate interest in something?
• ____ 8) Can your child play properly with small toys (e.g. cars or
bricks ) without just mouthing, fiddling , or dropping them?
• ____ 9) Does your child ever bring objects over to you, to show you
• Section B - GP's observation
• Yes or No?
• ____ i) During the appointment, has the child made eye contact with you?
• ____ *ii) Get child's attention, then point across the room at an interesting object and
say "Oh look! There's a (name a toy)!" Watch child's face. Does the child look across
to see what you are pointing at?
• NOTE - to record yes on this item, ensure the child has not simply looked at your
hand, but has actually looked at the object you are pointing at.
• ____ *iii) Get the child's attention, then give child a miniature toy cup and teapot and
say "Can you make a cup of tea?" Does the child pretend to pour out the tea, drink it
• NOTE - if you can elicit an example of pretending in some other game, score a yes
on this item
• ____ *iv) Say to the child "Where's the light?" or "Show me the light". Does the child
point with his/her index finger at the light?
• NOTE - Repeat this with "Where's the teddy ?" or some other unreachable
object, if child does not understand the word "light". To record yes on this item, the
child must have looked up at your face around the time of pointing.
• ____ v) Can the child build a tower of bricks ? (If so, how many?) (Number of
• * Indicates critical question most indicative of autistic characteristics
British Journal of Psychiatry (1996), 168, pp. 158-163
Psychological markers in the detection of autism in infancy in a large population. AUBaron-Cohen S; Cox A; Baird G;
Quantitative Checklist for Autism in Toddlers (Q-CHAT)
I.Q. in autism
50 IN 50%
50-70 in 20%
70-100 in 30%
the last is the BEST
BUT IN ONE SIDE OF ART
High functioning autism is the term used to
describe individuals with intelligence quotient
(IQ) >70 (ie, borderline and above
• Medical conditions associated with autism
• Between 45 and 60 percent of children with autism are
• Seizures occur in 11 to 39 percent of children with
ASD. The risk of seizures is higher in individuals with
more severe intellectual disability (mental retardation).
• A minority (fewer than 10 to 25 percent) of cases of
ASD are associated with a medical condition or
syndrome, such as phenylketonuria, fetal alcohol
syndrome, tuberous sclerosus, fragile X syndrome, or
Angelman syndrome. These syndromes are usually
diagnosed at or shortly after birth.
The pathogenesis of ASD is
• There is increasing evidence for the role of genetic
factors in the etiology of autism
• Evidence for the strong genetic contribution to
development of ASD is derived from the following
• Unequal sex distribution, with 4:1 male predominance
• Increased prevalence in siblings of patients with ASD
compared to the general population
• High concordance rate among monozygotic twins
Pediatrics. 2007 Nov;120(5):1183-215. Epub 2007
• Neuroimaging and autopsy studies in patients
with autism suggest that brain abnormalities play
an important role
• These abnormalities include diffuse differences
in total and regional gray and white matter
volumes, sulcal and gyral anatomy, brain
chemical concentrations, neural networks, brain
lateralization, and cognitive processing
compared to individuals without autism
NA-MIC AHM Salt Lake City, UT Jan 11, 2007
MRI findings in 77 children with non-syndromic autistic
disorder.. 2009;4(2):e4415. Epub 2009 Feb 10.
3/30/2014An Autistic Brain: result or cause
Larger frontal lobes due to excess
• Corpus Collosum is undersized
• Amygdala is enlarged
10% larger hippocampus.
This region is responsible for
ASD patients rely on
memory to interpret situations
• Cerebellum is larger also due to
excess white matter
Too many cables within local areas
but not enough linking different
• Parental age — Advanced parental age
(both paternal and maternal) have been
associated with an increased risk of
having a child with ASD
• . This is perhaps related to de novo
spontaneous mutations and/or alterations
in genetic imprinting.
Advancing paternal age and autism. Gen Psychiatry. 2006 Sep;63(9):1026-32.
Arch Pediatr Adolesc Med. 2007 Apr;161(4):334-40.
Advanced parental age and the risk of autism spectrum disorder. J Epidemiol. 2008 Dec
1;168(11):1268-76. Epub 2008 Oct 21.
• Lack of association with
immunizations — Some authors have
attributed regressive autism to vaccine
exposure (particularly measles vaccine
and thimerosal [a mercury preservative
used in vaccines]). However, the
overwhelming majority of epidemiologic
evidence does not support an association
between immunizations and autism
. Thimerosal and the occurrence of autism: negative ecological evidence from Danish population-based data.
Pediatrics 2003; 112:604.
AUTISM AND VACCINES:the TRUTH beyond the CONTROVERSY
Pediatrics on the Parkway November 15, 2008
Possible Red Flags for Autism
• The child does not respond to
• The child cannot explain what
• The child’s language skills are
slow to develop or speech is
• The child doesn’t follow
• At times, the child seems to be
• The child seems to hear
sometimes, but not other times.
• The child doesn’t point or wave
• The child seems to prefer to
• The child gets things for
The child used to say a few words
or babble, but now he/she doesn’t.
The child throws intense or violent
The child has odd movement
The child is overly active,
uncooperative, or resistant.
The child doesn’t know how to
play with toys.
The child doesn’t smile when
The child has poor eye contact.
The child gets ―stuck‖ doing the
same things over and over and
can’t move on to other things.
• The child is very independent for his/her age.
• The child does things ―early‖ compared to other children.
• The child seems to be in his/her ―own world.‖
• The child seems to tune people out.
• The child is not interested in other children.
• The child walks on his/her toes.
• The child shows unusual attachments to toys, objects, or schedules
(i.e., always holding a string or having to put socks on before pants).
• Child spends a lot of time lining things up or putting things in a
The National Institute of Child Health and Human
Autism Overview: What We Know ,2005
• First identified by Hans Asperger in 1944
• unusual social styles, even lack of eye contact in
interactions, or poor social skills.
• Difficulty making friends.
• Difficulty reading or communicating through non verbal
social cues, such as facial expressions. Cannot read
• Have difficulty introducing themselves into groups of
people or conversations.
• Obsessive focus on a narrow interest
different way of thinking and interacting with their
Where Asperger’s Syndrome
Differs from Autism
Autism Asperger’s Syndrome
Severe problems with
No significant language
delay or problems with
Learning difficulties less
People with Asperger’s Syndrome usually
have average or above average
• Individuals with AS have low-IQ.
• Effect of bad parenting
• Person should be able to control their behavior
Individuals with AS are quirky but are also
creative and intelligent.
Can be successful in “narrow” careers, IT,
Have a unique perspective
• Rett’s disorder
• It was described in 1966 by Andreas Rett, an Austrian
• It's quite rare with only one affected out of every ten to fifteen thousand children.
• a neurodevelopmental disorder that occurs almost exclusively in
• Affected patients initially develop normally
• , then gradually lose speech and purposeful hand use sometime
after 18 months of age.
• Most cases result from mutations in the MECP2 gene.
• Characteristic features include:
• deceleration of head growth (in contrast to acceleration of head
growth, which occurs in other ASD),
• stereotypic hand movements,
• Dementia seizures, autistic features, ataxia, and breathing abnormalities
• Deceleration of brain growth begins after birth
• . In a postmortem study of 39 patients 3 to 35 years
old, most RETT’S brains were smaller than normal and
did not grow after age four years
• In contrast, the heart, kidneys, liver, and spleen grew
at a normal rate until 8 to 12 years of age. At that time,
their growth rate decelerated, but continued so that
organ weights were appropriate for height, which was
also reduced. Adrenal organ weights were normal.
Armstrong, DD, Dunn, JK, Schultz, RJ, Herbert, DA.
Organ growth in Rett syndrome: a postmortem
examination analysis. Pediatr Neurol 1999; 20:125.
• Evidence of intrauterine growth retardation
• Organomegaly or other signs of storage disease
• Retinopathy or optic atrophy
• Microcephaly at birth
• Evidence of perinatally acquired brain damage
• Existence of identifiable metabolic or other
progressive neurological disorder
• Acquired neurological disorders resulting from
severe infections or head trauma
DSM-IV: Diagnosis of Rett’s Disorder
• A. All of the following:
– (1) apparently normal prenatal and perinatal development
– (2) apparently normal psychomotor development through the first 5
months after birth
– (3) normal head circumference at birth
• B. Onset of all of the following after the period of
– (1) deceleration of head growth between ages 5 and 48 months
– (2) loss of previously acquired purposeful hand skills between ages
5 and 30 months with the subsequent development of stereotyped
hand movements (e.g., hand-wringing or hand washing)
– (3) loss of social engagement early in the course (although often
social interaction develops later)
– (4) appearance of poorly coordinated gait or trunk movements
– (5) severely impaired expressive and receptive language
development with severe psychomotor retardation
• Rett’s Disorder
– Mostly females
– Deterioration in developmental
circumference, overall growth
– Loss of purposeful hand
– Stereotypic hand movements
(hand-wringing, hand washing,
– Poor coordination, ataxia,
– Loss of verbalization
– Respiratory irregularity
– Early seizures
– Low CSF nerve growth factor
• Autistic Disorder
– Mostly males
– Abnormalities present from
– Stereotypic hand movements
not always present
– Little to no loss in gross motor
– Aberrant language, but not
– No respiratory irregularity
– Seizures rare; if occur, develop
– Normal CSF nerve growth
Childhood Disintegrative Disorder
• is a regressive disorder.
• This favors boys and does not begin to show symptoms
before three to four years.
• By this time the child has meet many of their early milestones. They are
walking, potty trained, affectionate and will be speaking. They'll enjoy
playing with their peers.
• Then it will begin without warning and over the space of
just a few months all this progress will stop. The child will
lose whatever language they have and will no longer be
able to control their bowel or bladder. They may begin to
have seizures and will usually have a low IQ. This is the
most dramatic of all the types of autism as the once
sunny smiling child will turn sullen, uncommunicative and
lose all they have learned.
Pervasive Developmental Disorder not
Otherwise Specified PDD -NOS
• is the name used for people who have
many of the symptoms of autism but not
enough of one kind to be labeled with it
and so they are put in this general
category. The person may have most of
the symptoms, a very few or almost none.
It is not a diagnosis of a disorder but
merely a term to cover off the symptoms of
an unknown neurodevelopmental disorder
• Edelson, M. (2006). Are the Majority of Children With Autism Mentally Retarded?
A Systematic Evaluation of the Data. Focus on Autism and Other Developmental
Disabilities. 21, (2),66-83.
• Bellini, S,. And Hopf, A. (2007). The Development of the Autism Social Skills
Profile: A Preliminary Analysis of Psychometric Properties. Focus on Autism and
Other Developmental Disabilities. 22, (2), 80-87.
• Koegel, R,. And Koegel L. (1995). Teaching Children with Autism. Baltimore: Paul
H. Brookes Publishing Co., Inc.
• Murdock, L., Cost, H., and Tieso, C. (2007). Measurement of Social
Communication Skills of Children With Autism Spectrum Disorders During
Interactions With Typical Peers. Focus on Autism and Other Developmental
Disabilities. 22 (3), 160-172.
• Myles, B., Lee, H., Smith, S., Tien, K., Chou, Y., Swanson, T., and Hudson, J.
(2007). A large-Scale Study of the Characteristics of Asperger Syndrome.
Education and Training in Developmental Disabilities. 42 (4), 448-459.
• Richard, G. (1997).The Source for Autism. Illinois: LinguiSystems, Inc.
• Sewell, K. (1998). Breakthroughs: How to Reach Students with Autism.
Wisconsin: Attainment Publication.
• Simons, J., and Oishi, S. (1987). The Hidden Child: The Linwood Method for
Reaching the Autistic Child. Maryland: Woodbine House.
• Tyron, P., Mayes, S., Rhodes, R., and Waldo, M. (2006). Can Asperger’s Disorder
be diffrentiated from Autism Using DSM-IV Criteria? Focus on Autism and Other
Developmental Disabilities. 21, (1).pp. 2-6.