AutismIntroduction: Autism
is the most commonly known neurodevelopment disorder among the pervasive developmental
disorders (PDD). These are also known as autism spectrum disorders (ASD). They
are abnormalities in the neurological and/or psychological development resulting
in difficulties communicating and interacting socially. They also have repetitive
and stereotyped behavior patterns. Some of these patients have significantly lower
IQ’s to the point of mental retardation.
| The Spectrum
of Pervasive Developmental Disorders (PDD) |
| PDD subtype: | Explanatory remarks:
| | Asperger's syndrome |
Cognitive function and language skills are better than in autism, but they are
perceived as eccentric with odd behaviors. They are clumsy, have repetitive behavior
patterns and are socially isolated. Hypersenitive to noises, smells or tastes.
One-sided interests; have difficulties recognizing jokes. |
| Autism (autistic disorder) | Onset
at age 2 or 3 years; impaired language skills, social interaction, communication
skills. Stereotyped, repetitive behaviors; some have mental retardation; some
have seizures. Needs early diagnosis and aggressive comprehensive treatment program
that focuses on child's deficiencies and helps to overcome these weaknesses. This
may lead to independent living in adulthood in 50% of the cases (used to be only
10 to 15%). | | Childhood disintegrative
disorder | Initially there is a normal development unti the age
of 2 years when suddenly a marked regression in development occurs. At least two
of the following four functions are deteriorating: bladder and bowel control;
language skills; social interaction; motor skills. It can become so severe that
the symptoms are worse than in autism. Some of the behaviors may mimic autism
or schizophrenia. | | Rett syndrome
| Affects mainly girls and is inherited by a mutation in the MECP2 gene
on the X chromosome (Xq28 location). Following normal development for 6 months
the head growth slows down and severe mental retardation sets in. A severe neurodevelopmental
disorder with ataxic gait, seizures, loss of speech, loss of hand control and
impaired social interaction ensues. | Autism has been
estimated to occur with a frequency of 10 to 12 cases in 10,000 live birth. When
all PDD cases are included, the frequency of occurrence is about 20 cases per
10,000 live births (Ref.2). Autism is challenging to diagnose accurately as there
is a spectrum of severity with regard to symptom expression. There are, however,
a number of autism testing procedures available as discussed further below. They
are best used in combination by a team specializing in autism. It appears that
autism can have various causes likely accounting for the various degrees of severity
of symptoms. In addition there is a genetic component as well. It has been determined
that most autism cases are unrelated to diseases of the brain, but certain conditions
like rubella or cytomegaly virus infections during the pregnancy as well as the
genetic enzyme defect phenylketonuria have been described to cause autism. There
is a strong genetic component for autism as parents who have one child with autism
(or PPD) have a 75-fold higher probability of getting another child with the same
neurodevelopmental disorder. This has been further confirmed in twin studies where
there is a high probability that a monozygotic twin will also have autism when
the other twin has been diagnosed with this condition. Several genetic loci have
been located on chromosomes 2, 3, 7, 15, 19 and X. Here is a reference that mentions
these genes
regarding autism in more detail. Some patients have structural abnormalities
in the brain, which lead to a higher risk of seizure disorders in addition to
autism. Symptoms: The symptoms of autism usually
become apparent in the first year of life by not reaching some of the developmental
milestones in time such as sitting, walking, making eye contact and talking. By
the age of 3 all of the autistic signs and symptoms are present. The main symptom
is that the child has difficulties interacting with key persons such as parents,
siblings, friends and peers. The autistic person has a problem forming mutual
relationships likely due to an inability of imagining how the other person might
be thinking when behaving a certain way or as a reaction to saying something in
particular. One of the hallmark symptoms in a 1 year-old child with autism is
that the child is unable to point at an object communicatively. Poorly coordinated
gait or stereotyped motions are also common. Most cases have some degree of mental
retardation and when the intelligence quotient is less than 50 there is also a
25 to 35% chance of a seizure disorder. Some of the more severe cases (about 25%)
experience a regression of previously acquired language skills and social skills
between 18 and 24 months. Patients with autism resist change; they are attached
to familiar objects and engage in rituals. They tend to have a marked difference
with regard to intellectual performance in the sense that one part of the intellectual
functioning is very limited, but other areas may be highly developed. The 1988
movie “Rain Man” popularized the condition of autism and displayed many of
the symptoms mentioned above. Diagnosis: The diagnosis
is made clinically by examining the patient, looking for symptoms and by doing
a number of tests that have been specifically developed to diagnose autism. Some
of the medical screening tests are tests to rule out phenylketonuria (PKU) and
chromosomal analysis to rule out fragile X syndrome. IQ tests help to determine
how severe autism is as the more severe forms have a minimized IQ. In the case
of seizure disorders EEG studies are done. CT or MRI scans are done to rule out
tuberous sclerosis. In terms of psychological tests the Childhood Autism Rating
Scale (CARS) is a widely used test (Ref.1). This is a good test for initial screening.
Autism Diagnostic Interview-Revised (ADI-R) is a comprehensive test that will
use life time skills and is done in an interview setting (Ref. 4); this is a test
that can be used from age 18 months to adulthood. It also provides the exact diagnosis
according to the DSM-IV manual and the ICD-10 criteria. The Autism Diagnostic
Observation Schedule-Generic (ADOS-G) test complements the ADI-R test, but requires
comprehensive training to apply. There are several modules for different age groups
and for different levels of sophistication. This tests communicative skills, social
behaviors and play behavior. Together all of these tests will help to establish
the diagnosis and also help to prepare the treatment planning process. Treatment:
The following points regarding treatment of autism (ASD) or pervasive developmental
disorders (PDD) are noteworthy. 1. Autism and PPD are lifelong chronic
disabilities. To the lay person it may be difficult to see why the patient would
be disabled as it is a combination of physical, behavioral and mental signs. 2.
In children treatment should start from the day that the condition is diagnosed
as early intervention has been shown to be very successful. This may make the
difference between being able to lead a relatively independent life as an adult
versus a case of autism of PDD diagnosed in a delayed fashion. For the toddler
and the preschool child treatment consists of focusing on language development,
imitation skills, recognition skills, responding in a social manner and learning
appropriate behavior. 3. School aged children need a highly structured
supportive teaching environment. The emphasis is on early intervention, tailored
to the needs of the person, intensive and stimulating all areas of need as previously
identified through the testing methods. The progress should be monitored as the
program goes on and typically should show improvements in all of the targeted
areas. Children will autism need more input than children with less severe PDD
or Asperger’s syndrome. Autistic children would need a combination of a classroom
program tailored to their needs as well private individualized instructions. This
needs to be well structured, consistent and needs to contain a lot of repetition
of what is taught. 4. Adolescents and adults need to be taught different
social, behavioral and communicative skills. The complex life demands have to
be addressed in the curriculum. This can be addressed by social skills groups,
groups that engage in recreational activities, vocational coaching and individualized
psychotherapy. The purpose is to integrate the affected person as much as possible
into society and teach them how to lead a full adult life. 5.
A lot depends on family support. Hopefully the health members of a family will
find the most appropriate educational and psychological professionals with experience
in autism and/or PDD. Speech and language therapy are also very important as they
are necessary to be able to approach any interventional program effectively. There
often are areas of strength, which should be particularly developed as this will
be respected and valued by peers and could be useful in future job training. 6.
Special techniques in treating autism are: cognitive and behavioral therapy; speech
and language programs; concrete pragmatic approaches with an individualized comprehensive
intervention plan; develop communicative skills to the fullest potential; occupational
and physical therapy to overcome physical limitations and prevent work accidents;
look after the mental well being of the family and the patient alike. 7.
Refrain from popularized miracle cures for autism. Many of them are one-sided
and have no proven benefit on the long term. However, having said this, the DAN
physicians who specialize in treatment of autism have found that a combination
of hyperbaric oxygen (HBOT) and detoxification with chelation treatments can clean
the body of heavy metals that are known to be detrimental for autism. Some autistic
children have been able to outgrow their condition. Part of the detoxification
that can be used to detoxify the body from heavy metals like mercury, lead and
cadmium is by using a non-drug method such as Glutathione/vitamin C mix through
an intravenous (anti-aging physicians or DAN physicians offer this). 8.
Treatment providers would include a treatment team with a physician, psychologist,
social worker and the supportive services mentioned. 9. Medication:
The reason medication is mentioned towards the end of treatment is that
medication is not a substitute for the other treatment steps, but should only
be used in conjunction with the above described comprehensive treatment program.
Antidepressants (particularly selective serotonin reuptake inhibitors) can be
used to help suppress ritualized behaviors and preoccupations, which often accompany
autism. Stimulants that are normally used in ADHD children have sometimes also
been used in autistic children, but critical reviews showed effectiveness only
when there was an element of hyperactivity and lack of attention span present.
Antipsychotic medication (most research done with haloperidol) has been used to
treat the target symptoms of hyperactivity, agitation, aggression, stereotypic
behaviors, and mood lability. There are significant side-effects with conventional
antipsychotics and lately the newer atypical antipsychotic medications have been
used as a substitute with some degree of success. Anticonvulsant medications has
been found not only useful for treatment of concomitant seizures, but was also
found to be useful in treating aggressive autistic patients and when there are
episodes of behavioral outbursts, particularly in those patients who have seizures
at the same time. 10. Prognosis: Autism has a better
prognosis when the child has adequate language skills by the age of 5 years and
the IQ is 70% or higher. The better the cognitive functions are (language, emotional
interaction, memory, reasoning), the better the long-term outcome. Studies have
shown that about 15% of autistic children turn into independently functioning
adults. Modern more intensive and comprehensive treatment protocols as described
above likely have a higher success rate (perhaps 40 to 60% functionality). |
