Autistic Spectrum Disorders:
AKA PDD
James H. Johnson, Ph.D., ABPP
University of Florida
Pervasive Developmental Disorders:
Old and New Labels
• The current DSM IV category of
Pervasive Developmental Disorders
includes several more severe forms of
child psychopathology.
• Historically disorders of this type
have been referred to by a variety of
labels such as
–
–
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atypical psychosis,
child psychosis,
symbiotic psychosis,
childhood schizophrenia, and
infantile autism
Evolution in the Classification of
PDD
• Prior to 1980 and the development of DSM III. there
was no adequate classification system for the diagnosis
of these disorders.
• In DSM II there was no category appropriate for more
severe forms of child psychopathology apart from
“Childhood Schizophrenia”.
• This category was very general and not sufficient for
the diagnosis of the full range problems now
considered under the heading of PDD
DSM II Criteria for Childhood
Schizophrenia
• Symptoms appear before puberty.
• The conditions may be manifested by autistic, atypical
and withdrawn behavior;
• Failure to develop an identity apart from the mothers
with general unevenness, gross immaturity, and
inadequacy of development.
• These developmental defects may result in mental
retardation, which should also be diagnosed.
• Although some children met criteria for this disorder
most with severe psychological problems did not.
DSM III: A New Category for PDD
• In DSM III an attempt was made to provide
more adequate diagnostic categories for
classifying more serious forms of child
psychopathology.
• Here two primary diagnostic categories
were provided, as were more objective
diagnostic criteria and specific decision
rules for making diagnoses.
PDD: General Characteristics of the
Category
• Pervasive Developmental Disorders considered
within DSM IV differ in a variety of ways
– severity of impairment,
– age of onset,
– likely etiological factors involved
• They are similar in reflecting core features
that define the general diagnostic category.
• They are seen as disorders characterized by
pervasive impairments in several areas,
including;
– deficits in reciprocal social interactions,
– deficits in communication skills, and
– the presence of stereotyped
behaviors/interests/activities
Developmental - Yes; Psychotic - No
• At one time, conditions now referred
to as Pervasive Developmental
Disorders were thought to be
reflective of Child Psychosis.
• As these disorders generally bear
little relationship to the psychotic
conditions of adulthood (e.g.
Schizophrenia, Bipolar Disorder),
they are now referred to as
"developmental" rather than
"psychotic" disorders.
“Pervasive” vs “Specific”
Developmental Disorders
• These "pervasive" developmental disorders
are to be distinguished from "Specific
Developmental Disorders" (e.g., reading,
articulation, arithmetic, and language
disorders).
• This is because they are characterized by
severe disturbances in many basic areas of
development.
• They may also be reflected in
behaviors having no counterpart in normal
development.
• Children with these conditions often
display distorted rather than simply
delayed development.
DSM III: the Original PDD
Classification
• In the initial development of DSM (DSM III), only
three categories of Pervasive Developmental
Disorders were included;
– Autism
– Childhood Onset Pervasive Development Disorders.
• There was also a more general category of “Atypical
Pervasive Developmental Disorder” that could be
used for children not diagnosable, using criteria for
the other two categories.
DSM III: Autism Criteria
•
•
•
•
Onset before 30 months
Pervasive lack of responsiveness to other people
Gross deficits in language development
If speech present, peculiar speech patterns (e.g.echolalia,
pronoun reversal)
• Bizarre responses to various aspects of the environment
– resistance to change; peculiar interests in or
attachment to animate or inanimate objects.
We will discuss Autism in more detail later.
DSM III: Childhood Onset PDD
Diagnostic Criteria
• A profound disturbance in social
relationships and multiple oddities, all
developing after 30 months of age and before
12 years (to separate it from Autism and Schizophrenia).
• The disturbance in social relationships is
gross and sustained, with such symptoms as
lack of appropriate affective responses,
inappropriate clinging, asocial behavior and
lack of peer relationships.
DSM III: Childhood Onset PDD
Diagnostic Criteria – cont.
• Oddities of behavior include;
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Sudden excessive anxiety
Constricted or inappropriate affect
Resistance to change in the environment
Insistence on sameness
Oddities in motor movement
Speech abnormalities
Hyper or hypo-sensitivity to sensory stimuli and
Self mutilation
Childhood Onset PDD:
Associated Features
• Bizarre ideas and fantasies and preoccupation with
morbid thoughts and interests.
• Pathological preoccupation with, and attachment
to, objects such as always carrying a string, rubber
band, straw, etc.
• While seemingly representing an advance in
attempting to be more objective in making
diagnostic judgments, this classification approach
changed in 1987 with DSM III –R.
PDD and DSM III – R: Moving
Forward or Backward
• In DSM III – R this category was changed
dramatically.
• The Childhood onset PDD category was
eliminated.
• Only the category of Autism was retained with this
nature of the autism criteria being modified in
several ways including;
– Removing the age-of-onset criterion
– Broadening the autism criteria thus distorting the
traditional conceptualization of autism.
PDD and DSM III – R: Moving
Forward or Backward – cont.
• This broadening of the autism criteria came at a time
when research was suggesting that it was important to
start looking at subtypes of autism.
• The changes resulted in many cases, that would have
been diagnosed as COPDD being classified as autism.
• Research suggested that diagnoses using these new
criteria
– Did not correspond to DSM III diagnoses of Autism or
– Relate closely to clinician views of autism.
• This prompted major changes in the PDD system.
– Modifications were made for DSM IV.
– DSM IV is more similar to DSM III than DSM III-R!
DSM IV: Current PDD Disorders
• Several disorders are included under
the present day DSM IV heading of
Pervasive Developmental Disorders.
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Asperger's Disorder
Autistic Disorder
Rett Disorder
Childhood Disintegrative Disorder
PDD (NOS)
Asperger’s Disorder, Autism, and PDD
(NOS) are frequently also referred to as
Autistic Spectrum Disorders (Gillis &
Romanczyk, 2008)
Asperger's Disorder:
The Least Severe of the
Severe Disorders
• The first published account of this
disorder was by Austrian
psychiatrist Hans Asperger in 1944
who initially referred to the
condition as "autistic psychopathy".
• It is interesting to note that Dr.
Asperger’s own preoccupations,
interests and social aloofness
suggest that he may himself have had
an autistic spectrum disorder (Lyons
& Fitzgerald, 2007)
• Asperger used the term "autistic" in
the technical sense to refer to an
abnormality of personality rather
than features of infantile autism.
• However, more recent authors have
commented on the similarities
between these disorders.
• Indeed, there is some debate as to
Essential Features
• Essential features include
– severe impairments in social interactions
– restricted and repetitive patterns of
interests, activities and/or behaviors
– that result in impairment.
• No clinically significant delays in
cognitive development, language development
• While not a specific symptom of Asperger's
Disorder, children with this condition are
often delayed in meeting major motor
milestones (e.g., crawling, walking) and are
frequently characterized as clumsy.
Asperger’s: Social Impairments
• In autism, social impairments
seem to result from an intense
desire to avoid social
interactions.
• The social impairment in
Asperger’s seems to result more
from a lack of social skills and
lack of social perspective
taking.
• These children seem to have a
marked inability to understand
and use rules which typically
Asperger’s: Social Impairments
• The child with Asperger’s may
show significant problems
with;
– nonverbal behaviors such as
maintaining appropriate physical
proximity to others while
interacting,
– making and sustaining eye
contact, and
– appropriately using gestures,
facial expression and other
nonverbal behaviors to regulate
Egocentricity of Social Behaviors
• Social
behavior
often
appears
egocentric and self-centered,
• Here, the child may frequently
pursue
his/her
own
highly
personalized interests in social
encounters
without
apparent
awareness that the other person
does not share similar interests.
• Behavior
occurring
within
the
context
of
two
way
social
interactions
often
appears
as
inept, naive and peculiar.
Restricted/Repetitive Behaviors
• Restricted and repetitive patterns
of
behaviors,
interests,
or
activities are often striking and
may be manifest in a variety of
ways.
• Some
may
be
preoccupied
with
specific activities (e.g., spinning
objects) or become overly attached
to certain objects or familiar
places and become intensely upset
when separated from them.
• Others show an inflexible adherence
Restrictive Patterns of Interest
• Children with this disorder often
show
an
extreme
all-consuming
involvement in some specific area of
interest.
– The child may spend most of his/her time
learning facts related to the area.
– They may collect things having to do
with the area, and spend an enormous
amount of time talking to others about
this area whether or not they are
interested.
– While, investing a great deal of time
learning about their area of interest,
the child may have little understanding
of the facts that they learn
Aperger’s vs Autism
• Unlike other PDD’s, in Asperger's Disorder,
there is no clinically significant delay in
cognitive development or language.
• The child may learn to speak at a normal
age and typically acquires a command of
grammar (Children with autism have problems with this).
• They may, however, show marked
peculiarities in language.
• They may invent words, use pronouns
incorrectly, or repeat words or phrases
over and over in a stereotyped manner.
• These children are often extremely concrete
and literal with a poor understanding of
sarcasm or irony (Wiznitzer (2009).
• May have big problem with idioms.
• The content of speech is often overly
pedantic, often consisting of long onesided discussions about the child's
favorite topic.
Asperger’s vs. High Functioning Autism
• Is Asperger’s disorder is a separate disorder or just a
variant of autism in higher functioning individuals.
• Some evidence suggests that children with Asperger’s and
high functioning autism are more alike than different and
that Asperger’s may simply be a variant of autism (Frith,
2004).
• However, children with Asperger’s and high functioning
autism seem to show distinct patterns of social
impairment with
– children with Asperger’s being rated as “socially active but
odd” and
– those with autism rated as “aloof and passive” (Ghaziuddin,
2008)
Epidemiology
• While there is little good data
regarding prevalence, children
meeting criteria for Asperger's
Disorder are quite rare.
• In a total population study of
children between ages 7-16 in
Goteborg, Sweden the minimum
prevalence of Asperger's Disorder
was found to be 36/10,000.
• The disorder appears more common in
males than in females.
• Sex ratios ranging from 3.75 : 1 to
9:1 are reported.
Asperger’s: Etiology
• Regarding etiology, the disorder was
originally considered to have a
genetic basis (Asperger, 1944).
• While no formal studies firmly
documenting a genetic etiology have
been published, case study findings
are available.
• For example, in an early study Wing
(1981) found that, of the 34 cases
with this disorder that she studied,
5 of the 16 fathers and 2 of the 24
mothers had, "to a marked degree"
behavior resembling that observed in
Asperger’s: Etiology
• Providing tentative support for some sort
of biological etiology, Wing (1981) found
that almost half of the 34 cases she
studied had a history of pre-, peri-, or
post-natal complications (e.g., anoxia)
sufficient to cause neurological
impairment.
• Although not definitive, support for the
role of biological factors comes from the
fact that these children sometimes often
show evidence of nonspecific neurological
symptoms.
• Research findings have also suggested that
children with Asperger’s display
abnormalities of the cerebellum and limbic
system that are not unlike those found in
autism (Mash and Wolfe 2007).
• More research will be necessary to
Asperger’s: Prognosis
• Given their higher level of functioning (due
to a lack of basic cognitive and language
deficits) the prognosis is Asperger’s appears
much better than with other PDD’s.
• Early studies by Wing (1981) presented case
reports of individuals who were able to
engage in gainful employment and function in
a simi-independent manner.
• A recent study found that 27% of those with
Asperger’s had good adult outcomes and 26 %
had restricted or poor outcomes with a very
restricted life with no occupation and no
friends (Mash and Wolfe 2007)
• Obviously, prognosis is intimately related to
treatment and management approaches designed
to deal with the child's difficulties.
Treatment of Asperger’s
• At present, no treatment has been
shown to modify the basic underlying
impairment shown by children with this
condition,
• Behavioral
approaches
designed
to
enhance
the
child's
ability
to
function in social situations, along
with an educational program tailored
to meet his or her specific needs
should be beneficial.
• Psychotherapy, while not likely to
remediate the child's basic
difficulties, may be useful later on
as the child becomes aware of the
degree to which social skills
limitations make it difficult to
Autism
• Infantile autism
was first
described by Leo
Kanner (l943) in
his classic paper
" Autistic
Disturbances of
Affective
Contact", which
was published in
the, now extinct
journal, The
Nervous Child.
Autistic Disorder
• In this seminal article, Kanner
highlighted the defining
characteristics of 11 children
seen in his child psychiatry
practice at Johns Hopkins
University.
• Kanner believed that these 11
children displayed a type of
disorder different from any that
had been described prior to that
time.
• His views regarding this disorder
have heavily influenced present
day views of the disorder,
Nature of the Disorder
• Unlike certain other severe disorders
of childhood, Kanner assumed autism to
have an early onset.
• He believed the disorder to be present
from the beginning of life, or at
least to become obvious during the
first year or so.
• Indeed, he referred to it as an
"inborn disturbance".
• He felt that this early onset served
to differentiate the disorder from
other problems, which at that time,
were judged to be manifestations of
childhood psychosis.
Defining Social Characteristics
• Autistic children have a primary
disturbance in social relationships
and an apparent inability to relate
to others.
• They seem aloof, often oblivious to
the presence of others, and are
often described as being in a world
of their own – “Like in a shell”,
“Happiest when left alone”, Acting
as though people aren’t there”. .
• This may be reflected in early life
by a failure to show anticipatory
posturing when the parent attempts
to pick them up from the crib, and
the failure of the infant to mold
Defining Social Characteristics
• Their problems in relating to others may
be displayed by the failure of the child
to respond to parents or others.
• In some instances children may treat
parents no differently from others and
may show almost no response when a
parent returns home, even after being
gone for some time.
• Sometimes these children are thought to
be deaf because of their lack of
responsiveness.
• This problem of emotional responsivity
prompted Kanner to describe the disorder
as a primary disturbance of affective
contact.
Social Aloofness as a Core Feature
• Kanner suggested that the outstanding fundamental
disorder is “the children’s inability to relate
themselves in the ordinary way to people and
situations from the beginning of life”
• He goes on to note that “this is not as in schizophrenic
children or adults, a departure from an initially present
relationships - it is not a “withdrawal” from formerly
existing participation.”
• There is from the start, an “extreme aloneness that
whenever possible disregards, ignores, shuts out
anything that comes to the child from the outside”.
Autistic Language Impairments
• All autistic children show evidence
of a severe language disorder.
• Many remain mute.
• Those that develop speech typically
show unusual features such as
echolalia (the repetition of what
someone else has said, just as it is
said) or pronominal reversal (failure
to use pronouns correctly - referring
to oneself as "you" and to others as
"I").
• Even though some autistic children
develop fairly large vocabularies,
they usually cannot use speech to
communicate with others.
Autistic Language Impairments
• Kanner noted that although some of his
11 cases developed language, they were
no better able to communicate than
were those who remained mute.
• Speaking autistic children often have
no difficulty in naming objects and
sometimes seem to have a facility for
learning previously constructed verbal
materials such as poems, songs, and
lists of things.
• Such learning, however, seems to be
without any appreciation of the
meaning of these materials.
• There is usually minimal evidence of
spontaneous speech that serves a
communicative function
The Desire for Sameness
• Kanner and others have noted that
autistic children seem to display an
"anxious desire for the maintenance of
sameness.
• This refers to the fact that such
children often get upset when things in
their environment are changed - when
furniture is moved, when routines are
changed, or when toys the child has
left in a particular position are
moved.
• This may result in a catastrophic
reaction lasting until things are
returned to their former state.
• This desire for sameness may lead some
children to display a wide range of
Other Associated Features
• In addition to the characteristics
suggested, by Kanner, other behaviors are
also found in some autistic children.
• Many autistic children show stereotyped
behaviors.
• They may mouth objects, spend long
periods of time flapping their arms and
hands, rock, or display other apparently
self-stimulating behaviors.
• The may sometimes appear either under or
over responsive to environmental stimuli,
or both.
• Sometimes this under responsiveness is
reflected in an apparent insensitivity to
pain and in associated self-injurious
behaviors.
Prevalence of Autism
• Although autism has, from the beginning,
been seen as a rare disorder it has been
difficult to determine its exact frequency
of occurrence.
• This is because investigators have often;
– used different criteria for diagnosis,
– because the disorder has frequently been
confused with other severe disorders of
childhood, and
– because not all children with autism come to the
attention of researchers.
• Prevalence data from early studies
suggested very low rates of occurrence,
typically 4 or 5 cases per 10,000 children,
and as low as 2 per 10,000 for "classic"
cases
Prevalence of Autism
• A review of studies conducted since the mid 1980's
has, however, suggested higher prevalence figures.
• The few studies using DSM criteria have reported
rates on the order of 10 per 10,000 (Classic
Autism).
• Prevalence rates for Autism Spectrum
Disorders
– Recently it has been suggested that somewhere
between 1 in 500 to 1 in 166 children have an
ASD! Center for Disease Control and Prevention
(CDC)
– It is now being suggested that as many as 1 child
per 150 (or more) may have an autistic spectrum
disorder (Yeargin-Allsopp et al , 2003)
– Other research has suggested that the prevalence
for subtypes of autistic spectrum disorder are
approximately 22 per 10,000 for autism, 33 for
10,000 for pervasive Developmental disorder NOS,
and10 per 10,000 for Asperger’s disorder
(Fombonne, et al , 2006)
• The disorder is more frequent in boys than in girls,
Autistic Success Stories
• In a classic paper entitled "How far
can autistic children go in matters
of social adaptation?" Kanner (l973)
reported on a follow-up of some 96
autistic children seen prior to l953.
• Although the majority did not fare as
well, 11 of the 96 achieved what he
described as a favorable outcome.
• Here 3 obtained college degrees.
Three went to junior college. At time
of follow-up one other was reported
to be doing well in college. The
other four did not go beyond high
school or special education.
Autistic Success Stories
• The occupations of these grown-up
autistics included accountant,
duplicating machine operator, lab
technician, bank teller, along with
several other types of unskilled work.
• Kanner noted that although these 11
children did show a favorable outcome,
none seemed to show any interest in the
opposite sex or marriage, suggesting
continued problems in close
relationships.
• Kanner found outcome to be unrelated to
having received psychiatric treatment.
• The single best predictor seemed to be
having useful speech by age 5
Prognosis of Autism
• In reviewing early follow-up studies
of autistic children DeMyer, et al
(1981) suggested that as many as 60
to 70 percent live a life of complete
or simi-dependence, at home or in an
institution.
• Only about 1 to 2 per-cent seemed to
have achieved normal levels of
independence, while others displayed
a borderline level of functioning.
• A better prognosis seemed to be
associated with an IQ greater than
60.
Prognosis of Autism & Autistic
Spectrum Disorders
• Studies reviewed by Gillberg, et al (1992) suggest:
– Autism associated with severe mental retardation diagnosed
before age 5 carries a gloomy prognosis in respect of
psychosocial adaptation.
– Autism associated with mild mental retardation or near
average intelligence levels has a more variable prognosis.
– About half do poorly psychosocially in adulthood and do
not hold jobs or lead independent lives in other ways.
– However, a significant proportion of cases in this group has
a relatively favorable prognosis and can be self-supporting
as adults.
– Only a few are likely ever to be married or engage in
marriage-like relationships.
Prognosis of Autism & Autistic
Spectrum Disorders
• In very high functioning cases with autism or
Asperger’s syndrome, the overall prognosis is
much better.
– Oddities of social style, communication and interests
are likely to remain, but some in this group hold down
jobs and many get married and have children.
– There is much less detail with regard to the outcome
picture in the high-functioning group than in the those
with concomitant mental retardation. Gilberg (1992).
What about High Functioning
Autism
• Not a diagnostic category
• Term used in different ways
• Relates to those with autistic features but
who have higher level language skills and
may be normal in terms of cognitive
functioning
• Difficulties in distinguishing between this
and Asperger’s disorder.
Etiology of Autism
• Views regarding the causes of autism
can generally be classified as
psychogenic or biogenic in nature.
• Psychogenic theorists, citing early
reports which characterized the
parents of autistic children as cold,
aloof, obsessional, refrigerator like,
and in other less than positive terms
(see Kanner, l943), have emphasized
the role of parental variables in the
development of autism.
• Indeed, some clinicians such as
Bettelheim (l967) have suggested that
negative maternal attitudes are of
major importance in the development of
this disorder.
Etiological Perspectives
• For the most part, research designed to
link family variables to autism has
provided little support for psychogenic
views.
• DeMyer, et al (1981) have noted that, in
sharp contrast to early portrayals of
parents of autistic children as
"refrigerator" personalities, the last
decade of investigation has found these
parents to be similar to those with
children exhibiting other severe childhood
disturbances.
• "... Parents of autistic children have been
found to display no more signs of mental or
emotional illness than parents of children
with organic disorders (with or without
Failure of Psychogenic Explanations
• “In addition, they do not manifest
extreme personality traits such as
coldness, obsessiveness, social
anxiety, or rage, nor do they
possess specific deficits in
infant and child care (p.432)".
• As Gillberg (1990) has also
emphatically noted "there is no
scientific evidence that
psychological or psychosocial
stressors or circumstances can
lead to autism “(p. 110).
Etiology: A Biological Perspective
• There seems to be a growing
conviction on the part of most
researchers and clinicians that
autism is a biologically based
disorder.
• This point of view is supported
by a wide range of studies and
findings that have in one way or
another implicated the role of
biological factors.
• The specific biological factors that cause this
disorder have not been identified, although
Biological Perspectives
• Autism has been shown to be related
to biological problems such as;
–
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–
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the development of seizure disorders,
abnormal EEG's,
congenital infections (e.g,.rubella),
chromosomal abnormalities,
structural abnormalities of the left
hemisphere,
post mortem assessments
genetic factors.
retrolental fibroplasia
minor physical anomalies
congenitial syphillis
neuropsychological findings
Biological Findings in Autism:
Genetics
• Children with autism experience more health
problems during pregnancy, at birth or following
birth than other chidlren,
• Genetics : For identical twins the concordance rate
for autism is 60 to 90%; Concordance rates for
fraternal twins are near 0%.
• Overall heritability of autism approximately 80%.
• Family members of children with autism are also
more likely to display abnormal rates of social and
language problems like those seen in autism, but less
severe.
Biological Findings: Structural and
Functional Brain Imaging
• Abnormalities in the frontal lobes
• Structural abnormalities in the cerebellum and medial
temporal lobe and related limbic system structures.
• Cerebellum found to be significantly smaller than
normal.
• Brain metabolism studies suggest decreased blood
flow in the frontal and temporal lobes
• Also decrease in functional interconnections between
cortical and subcortial regions and delayed maturation
of the frontal cortex
• Children with autism also display elevated levels of
whole blood seratonin.
Causal Controversy
• Do Childhood Vaccinations cause autism?
• It has been suggested that Measles, Mumps, and
Rubella (MMR) vaccine can result in autism.
• There are some children, later diagnosed with
autism, who have initial language and socialcommunicative behaviors disappear after getting
vaccination.
• Here the vaccine itself has been implicated as has
thimerosal, a preservative used in this and other
vaccines.
• Available evidence does not support a link between
either and autism (Fombonne, 2008)
Biological Perspectives
• Although methodological problems
inherent in most studies make it
difficult to draw firm conclusions,
taken together these findings provide
strong support for a biogenic
perspective.
• Indeed, after reviewing much of the
literature related to neurobiological
factors in autism, Gillberg (1990) has
concluded that "autism is now regarded
as a behaviorally defined syndrome of
neurological impairment with a wide
variety of underlying medical etiologies
(p. 106)".
• Again, the specific biological factors
most relevant to the etiology of autism
and their specific role remain to be
Treatment of Autism
• Due to their severe cognitive and
social impairments, autistic
children are unlikely to benefit
from insight oriented "talk
therapies“.
• Although some authors have suggested
that individual psychotherapy can be
of some value in working with a
small number of higher functioning
autistic children.
• While there is presently no "cure"
for autism, behavioral approaches
have achieved the most obvious
Operant Treatment of Autism
• Operant procedures, combined with
modeling, have been found useful in
teaching language, as well as other
socially adaptive behaviors, and in
decreasing many inappropriate behaviors
of autistic children which interfere
with their functioning.
• Despite these accomplishments, it must
be noted that bringing about such
behavioral changes requires, not only
skills which very few clinicians
possess, but also an enormous amount of
time.
• And, there is the problem of maintaining
those treatment gains that are made.
Operant Treatment of
Autism
• That this approach can be worthwhile is
suggested by the results of a program run
by Lovaas (1987).
• Here, children participated in an
intensive, long-term, treatment program
that focused on imitation, language
development, the expression of
appropriate emotions, and appropriate
play behaviors.
• Of the 19 children participating in the
program, it was possible to mainstream 8,
and 7 were described as being
indistinguishable from normals.
• While the degree to which these children
did in fact approach normality has been
Pharmacological Approaches
• Although much attention has been given to studying
the usefulness of pharmacological agents in the
treatment of autism, some that were once thought
to hold a great deal of promise have turned out to
be disappointments.
• One such drug is fenfluramine.
• This drug was the subject of interest because it
tends to reduce levels of serotonin in the blood.
• Note that serotonin is one of the neurotransmitter
that biochemical studies have found to be elevated
in some autistic children.
• Two preliminary studies in the 1980’s provided
data suggesting that fenfluramine reduces
serotonin levels and brings about improvements in
functioning, as indexed by a social and
intellectual indices .
Pharmacological Approaches
• Results also suggested that when the treatment
ceased behavior deteoriated.
• Subsequently, other researchers have sought to
evaluate
the
safety
and
effectiveness
of
fenfluramine.
• These, investigations have not always found
treatment effects to equal those of prior studies.
• Indeed, they suggested that treatment effects
often diminish after a few months and that an
increase in dosage had only a moderate impact on
symptoms.
• Despite early enthusiasm, most later controlled
studies found no consistent effects for
fenfluramine.
• Further the association of fenfluramine with
primary pulmonary hypertension and (in combination
with phentermine) valvular heart disease has
eliminated its use as a safe agent.
Pharmacological Approaches
• Research with some drugs have shown
them to be more effective.
• For example, one drug (Haloperidol),
which has been used with adult
schizophrenics and some other
clinical groups, has been shown to
improve the learning ability of
autistic children and make them more
responsive to special education and
behavior modification
• An especially noteworthy aspect of
this treatment is that therapeutic
effects were obtained with lower
doses that do not seem to produce
serious side effects
Additional Drug Treatments
• A recent NIMH Multisite study (2005) has found newer,
atypical antipsychotic medications such as Risperdal® to
be useful in the treatment of autism.
• This medication, has been found to not only decrease
aggression but also reduced repetitive behaviors and
increase social interaction - all with limited side effects.
• The two-part study found that discontinuation after six
months prompted rapid return of the problem behaviors in
most cases.
• Other drugs such as the SSRI’s may also be useful in
reducing repetitive behavior social avoidance in
individuals with autism.
• These seem to be more effective with adolescents with
autism as opposed to younger children.
• The use of other atypical antipsychotic drugs (e.g. Abilify)
is also being researched as well.
Multimodal Treatments
• While behavior therapy and drug treatments
have both shown some promise in treating
autism, there is research evidence to suggest
that treatment should not be an either/or
proposition.
• For example, early research by Campbell, et
al (1987) focused on the efficacy of a
combination of Haloperidol and behavior
modification in the treatment of 40 autistic
children.
• The results of this study suggested that
while haloperidol alone was effective in
reducing stereotyped behavior and withdrawal,
a combination of drug treatment and behavior
therapy was superior to either approach used
in isolation.
• There is reason to believe that behavior
modification in combination with other newer
drugs such as atypical anti-psychotics would
Multimodal Treatments
• These
findings
suggest
that,
rather
than
looking
for
one
specific form of treatment to deal
with
the
diverse
symptoms
of
autism (which may be a diverse
disorder), it may be important to
employ multimodal treatments that
are
designed
to
bring
about
specific
types
of
treatment
effects.
• And, the importance of special
education in the child’s treatment
Living with Autism:
Temple Grandin, Ph.D
» http://www.npr.org/templates/story/story.
php?storyId=4278538
Rett Disorder
Dr. Andreas Rett in Vienna, Austria
• This disorder, first described
in 1964 by Dr. Andreas Rett
• Did not receive worldwide
recognition until English
language publication by Dr.
Bengt Hagberg in 1983
• It is a neurodevelopmental
disorder which is manifest in
both physical & behavioral
symptoms .
• Initial onset after a period of
apparently normal early
development.
• Onset of symptoms typically
occurs as early as 5 months or
as late as 48 months
• Often misdiagnosed as autism,
Rett Disorder: Primary Symptoms
• Major symptoms include the
following;
– a deceleration in normal head growth,
resulting in acquired microcephaly,
– a loss of previously acquired hand
movements, and the appearance of
poorly coordinated gait and/or trunk
movements.
• The loss of existing motor skills.
• development of stereotyped hand
movements (hand wringing or
washing type movements.
Other Symptoms of Rett Disorder
• Other symptoms include regression
with deficits in expressive and
receptive language.
• This is usually accompanied by
severe psychomotor retardation.
• Behavior is often autistic-like;
– stereotypic behaviors (e.g., hand
movements noted above),
– a lack of sustained interest in persons
and objects and
– a marked decrease in interpersonal
contact
Some General Information
• Prevalence of Rett disorder
estimated at 1 in 10,000 to 1 in
22,000 (Percy & Lane, 2009) .
• It occurs primarily in females,
among live births.
• It is usually associated with
severe mental retardation.
• It is a disorder marked by rapid
deteoriation after initial onset
and a course which is chronic.
• However, sometimes a renewed
interest in social interactions
may appear as the person becomes
older.
Suggestions as to Etiology
• Disorder seems to be caused by
mutations of a defective regulatory
MECP2 (meck-pea-two) gene on the X
chromosome (Zoghbi, 2005).
• This gene controls other genes that
are involved in the protein synthesis
of a protein called methyl cytosine.
• This protein acts as a biochemical
switch that instructs other genes to
turn off and stop producing their own
proteins.
• This abnormalities of this proteins
function produce the
neurodevelopmental problems seen in
this disorder.
Why Females Only
• Why is Rett Disorder seen almost exclusively in
females?
– Since males have an X and a Y chromosome, they
lack a "backup" copy of the X chromosome that
can compensate for a defective one
– Mutations typically lethal to the male
fetus
• The diagnosis remains a clinical one
– Not made solely on the basis of MECP2
mutations.
– RS can occur with or without mutations in
MECP2, and MECP2 mutations can occur without
the diagnosis of RS.
– MECP2 gene 70-90% with “classical” RS
– MECP2 gene 0-30% with atypical RS
Suggestions of Etiology
• Despite being a gene related disorder, not
likely to be inherited.
• Chances of a second child in family
developing Rett disorder is less than one
in 100.
• Other suggestions of a biological etiology
include;
– the course of the disorder is usually
accompanied by the development of motor
neurological signs,
– almost all show abnormal EEG records
– that there is sometimes evidence of cortical
atrophy on CT scans,
– that some show evidence of postmortem
neurological abnormalities, and
– that some show abnormalities of the
cerebrospinal fluid’
Possible Treatments
• Treatment: Multidisciplinary
– No cure
– Treatment is symptomatic — focusing on the
management of symptoms
– Medication may be needed for breathing
irregularities and motor difficulties, and
antiepileptic drugs may be used to control
seizures
– Monitoring for scoliosis and possible
heart abnormalities
– Occupational therapy
– Hydrotherapy may prolong mobility
– Nutritionists to help them maintain
adequate nutrition
– Behavioral approaches designed to deal
with the behavioral deficits and excesses
associated with the disorder may be
useful.
– Would need to be combined with special
education
approaches
to
deal
with
cognitive
impairments,
and
physical
therapy to assist with the motor problems
that result from this condition.
– Family support is essential.
Long Term Outlook
• Long-Term Prognosis
– Little is known since most known
cases are relatively young.
– Females have a 95% chance of
surviving to 25 years old
– Can live into middle age and beyond;
Survival rate to age 35 is about 70%
(Percy & Price 2009)
– Long term care will likely be
necessary
– Morbidity often related to seizure
disorder or swallowing difficulties
– Future: Stem Cell and Gene Therapies
Childhood Disintegrative
Disorder
• The disorder was originally labeled
"dementia infantilis" by Heller (1930),
• A severe and disorder occurring after a
period of normality.
• Usually develops after age two.
• Involves rapid regression in behavior
with a loss of social, language, and
motor skills as well a skills in other
areas (e.g., play, bladder and bowel
control).
• Symptoms include impairment in social
interaction & communication, repetitive
and stereotyped behaviors as seen in
other PDD’s.
Other Clinical Manifestations
• The regression or disintegration
seen in the disorder usually
takes place over a period of six
to nine months.
• This results in a clinical
picture "... of an overactive
child with poor attention-span,
isolation, obsessional behavior,
limited but variable
comprehension, minimal and often
inappropriate expressive
Disintegrative Disorder vs Autism
• The obsessional and stereotypic
behaviors and the impairment in
social interactions that often
accompany this disorder can resemble
autistic disorder.
• However, this disorder can be
distinguished from autism by
– its later age of onset (usually 2 to 4
years) and
– the absence of other autistic features.
• Examples of the latter might include
specific language characteristics as
well as the obsessive desire for the
maintenance of sameness which is
often considered one of the hallmarks
of autism .
Epidemiology and Natural Course
• A pooled estimate of prevalence from four
surveys is 1.7 per 100,000.
• This suggests that CDD is very rare and its
prevalence is 60 times less than that for
autistic disorder.
• If a rate of 30 per 10,000 is taken for all
PDDs, only one child out of 175 children with
a PDD diagnosis would meet criteria for CDD
(Fombonne, 2002).
• It is more common in males.
• It course is variable.
– Sometimes, after the initial loss of
skills, the condition will remain static,
with limited improvement in social
behavior.
– In other cases there is progressive
deteoriation
– Most often the problems in social
interaction, communication, and behavior
remain relatively constant over time.
The Issue of Etiology
• Little information is available
regarding the etiology of this disorder.
• Although it is sometimes associated with
medical conditions such as epileptic
encephalopathy and progressive
neurological syndromes suggesting CNS
involvement (Wiznitzer, 2009).
• Case studies of children with this
disorder have reported;
– abnormal EEG findings,
– increases in soft neurological signs, and
– postmortem indicators of neurolipidoses.
• While these findings are suggestive,
more definitive investigations into the
etiology of this disorder are needed.
Treatment
• Despite little information
regarding optimal treatments for
this condition, an approach
similar to that suggested for
the treatment of Rett's disorder
might be of value in this case
as well.
• Again, the focus would be on
behavioral approaches to modify
problematic behavioral excesses
and deficits, along with
Long Term Outlook
• Loss of skills often reaches a plateau and then there
may be some limited improvement.
• In other cases there is progressive loss of skills.
Those with moderate-to-severe mental retardation or
with an inability to communicate tend to do worse
than those left with a higher IQ and some verbal
communication.
• The disorder is lifelong with long-term impairment of
behavioral and cognitive functioning.
• Risk of seizures increases throughout childhood,
peaking at adolescence and seizure threshold may be
lowered by SSRIs and neuroleptics.6
The End
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Autistic Spectrum Disorders: AKA PDD