Autism Spectrum Disorders
Dr AHMED kHALIFA
What We Know About Autism
• Autism is a biological disorder with multiple
etiologies
• No single cause, no single cure
• No biological marker
• No evidence of parenting defects or emotionally
induced autism (e.g., the “refrigerator mother”)
• Currently, the view is that some factor(s) act
through one or more mechanism to produced a
final common pathway of CNS insult that results
in the behavioral syndrome of autism
Mirror Neurons
• In monkeys, MNs are found in the inferior frontal
gyrus and inferior parietal lobule. These neurons are
active when monkeys perform a task or watch someone
perform a similar task. A similar system is theorized to
exist in the human brain.
• These neurons are theorized to be important for
understanding the actions of others and for learning
new skills by imitation.
• The most basic social brain system.
• The mirror system may simulate observed actions and
thus contribute to our Theory of Mind skills.
• fMRI studies have now demonstrated decreasing
activity (presumed MN activity) in the inferior frontal
gyrus (pars opercularis) in humans with autism
Mirror Neurons
Monkey See, Monkey Do…
Monkey Feel?
Amygdala
• The amygdala (“almond”) is thought to have many important
roles, including fear conditioning, memory consolidation, and in
the generation of important emotional responses, which help the
brain to process memories that are key to social learning
• The amygdala has long been suspected as a source of some
concern in autism
• More recently, David Amaral at the UC Davis MIND Institute
(Journal of Neuroscience, 2006) found that men and boys with
autism have fewer neurons in the amygdala
• One possibility is that there are always fewer neurons in the
amygdala of people with autism. Another possibility is that
autism is a degenerative process occurs later in life and leads to
neuron loss.
The Basal Ganglia
• “An obsessive desire for the maintenance of
sameness.” (Kanner, 1943)
• Stereotyped, ritualistic, repetitive motor behaviors and
difficulties with environmental changes are
phenomenologically similar to OCD and TS
– Contrast “passion” or “desire” with feeling compelled
• Functional and structural abnormalities of BG are
present in these disorders, specifically the caudate
(Hollander et al., 2005; Sears et al., 1999)
• Right caudate volume 10% greater in autistic individuals.
• Volume of the right caudate correlated with repetitive behaviors
as measured by the Autism Diagnostic Interview Repetitive
Behavior (ADI-C) domain total score (Hollander et al., 2005).
Epidemiology
• Affects 4 in 10,000 persons
• Male: female ratio is 3:1
• No specific social standard.
• IQ varies from average range to mental
retardation.
• 70% have IQ below 70
Associated Illnesses
• Autism frequently occurs in association with other
illnesses:
– MR (most common coexisting disorder; Fragile X is MCC [5 –
15%]; Downs not uncommon)
– Epilepsy
– Developmental Syndromes
• Turners, Tuberous Sclerosis
• Metabolic Disorders (e.g., PKU)
– ADHD
– Obsessive/Compulsive Disorder
– Depression & Anxiety (esp in higher functioning)
– Other psychiatric disorders (e.g., psychosis)
Prognosis and Course (1)
• Prognosis is highly dependent upon the level of
functioning
• By school age, autistic children can be divided into
three groups:
1. Low Functioning
*Verbal and non-verbal IQ < 70
(about 50% of affected children)
2. Mid-Functioning
*Non-verbal IQ > 70 but verbal IQ < 70
(about 25% of affected children)
3. High Functioning
*Verbal and non-verbal IQ > 70
(about 25% of affected children)
1-Autism Spectrum Disorder
-Autism spectrum disorder, previously
known as the pervasive developmental
disorders, is a phenotypically
heterogeneous group of
neurodevelopmental syndromes, with
polygenic heritability, characterized by a
wide range of impairments in social
communication and restricted and
repetitive behaviors.
A-Autism
-is a developmental disability marked
by significant impairments in social
relatedness, communication, and the
quality, variety, and frequency of
various activities, and behaviors.
-The onset of autism is generally
before age of 3.
B-Rett's syndrome
-Only in females.
Early in development:
-Normal development until between 6 and 18
months.
-Loss of purposeful hand movement,
-Severely impaired expressive and receptive
communication skills,
-Decelerated head growth, and severe cognitive
deficits.
-Include seizures in early childhood.
Feeding difficulties, and abnormal breathing
patterns, hyperventilation, breathe holding.
C-Asperger's syndrome
- In 1944, Hans Asperger, an Austrian physician,
described a syndrome that he named “autistic
psychopathy.”
A higher rate in boys than girls.
Description
-No clinically significant delays in language or
adaptive behavior.
-IQs are in the normal or borderline range.
Tend to show pragmatic abnormalities in language
(e.g. poor conversational skills).
Impairments in nonverbal expressiveness (e.g.,
gestures, facial expression).
5-Childhood Onset Schizophrenia
-Schizophrenia is rare in children
younger than 12 years and almost
nonexistent before the age of 5 years.
-Characterized by hallucinations or
delusions, childhood onset schizophrenia
has a lower incidence of seizures and
intellectual disability and poor social skills.
Pharmacological
In non-sedating dosages for agitation,
tantrums, aggression, and extreme
hyperactivity
-Haloperidol used but dyskinesia occurred in
33% of children but resolved after cessation
of the drug.
-Risperidone and olanzapine are beneficial.
- (SSRIs) (e.g., fluoxetine and
fluvoxamine) are in reducing
perseveration.
-Stimulants such as methylphenidate
(Ritalin) target for inattentiveness or
hyperactivity.
-Opioid antagonists (e.g., naltrexone). To
reduce interpersonal withdrawal by
blocking endogenous opioids, self injuries.
-Lithium, -adrenergic receptor
antagonists (beta blockers), and
antiepileptic drugs may be useful.
-Anticonvulsants are used in Rett's
disorder to control seizures.
