Professional Documents
Culture Documents
AKA PDD
• The disorder is more frequent in boys than in girls, with sex ratios ranging from
2.0 to 1 to 5.7 to 1.
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 psychosis).
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
several candidates have been identified.
Biological Perspectives
• Autism has been shown to be related to biological
problems such as;
– 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 social-communicative
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
uncovered.
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 success.
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 questioned, the results clearly highlight
the potential contribution of behavioral treatments.
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 also be valuable.
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 should not be minimized
Living with Autism:
Temple Grandin, Ph.D
» http://www.npr.org/templates/story/story.
php?storyId=4278538
Rett Disorder
• 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, cerebral palsy
or non-specified developmental delay
Dr. Andreas Rett in Vienna, Austria
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 language, but with
good motor abilities.”
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 appropriate
special educational approaches.
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