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Introduction
What is Autism?
Autism develops before 30 mo of age. It is characterized
by a qualitative impairment in verbal and nonverbal
communication in imaginative activity and in reciprocal
social interactions.
Synonyms
Pervasive Developmental Disorders and Childhood
Psychosis
Introduction:
Kanner (1943) described a syndrome characterized
by failure to establish communication with others,
obsession to continue "sameness," failure
of language communication, aloofness, preoccupation
with handling small objects, and an inability to
anticipate with appropriate body positioning the
likelihood of being picked up.
Incidences
The prevalence is 3-4/10,000 children. The disorder
is much more common in males than in females (3-4:1).
Autism can be associated with other neurologic disorders,
particularly turberous sclerosis, seizure disorders,
and to a lesser extent, fragile X syndrome.
Causes
Poorly understood, but probable suggestions are:
- Underlying encephalopathy,
as well as brain injury during gestation and the
perinatal period.
- Known to be associated with
known hereditary conditions, including tuberous
sclerosis and other conditions, such as infantile
spasms
The attempts at identifying
genetic factors and chromosomal abnormalities that
are associated with autism have been relatively
unsuccessful.
Clinical Menifestation
The characteristic set of behaviors
include:
- Qualitative
impairment in reciprocal social interaction,
- Qualitative impairment of verbal
and nonverbal communication and imaginative activity,
- Markedly restricted repertoire
of activities and interests.
9-10 Month of age
Abnormal behaviors in form of diminution in crying,
general motor activity, and feeding. Language development
is usually delayed, and children do not respond
appropriately to noises. Motor milestones are often
normal.
18 to 24 months
Some children appear normal until 18 to 24 months
of age when loss of social and language milestones
and a relative lack of communication occur.
Children with autism continue to eat,
poorly, particularly solid foods. They may become
fascinated with particular toys while rejecting
others. Before the age of 13 months, stereotypic
behavior and gestures are often manifest. Affected
children seek repetitive tactile, visual, vestibular,
and auditory stimulation. The autistic child may
forcefully refuse any tactile interaction with others.
The movements of autistic children
are varied, including flapping of the hands and
arms, head-banging, rhythmic head movements, rocking
from the pelvis while seated, whirling in place,
or rapid flicking of the nose or ears. The frequency
in intensity of these movements varies. The activities
described often are associated with children who
have mental retardation, including behavioral abnormalities
and repetitive movements.
Autistic children usually have better nonverbal
than verbal skills. Delay in development of language
skills is one of the most common reasons for parents
seeking professional help for their affected child.
Children may perseverate or have persistent and
dismaying echolalia. In addition to expressive problems,
comprehension difficulties may be severe.
Autistic children who learn to read
rarely have significant understanding of the meaning
of the material. Unfortunately, nonverbal communication
also is usually deficient.
Many suffer from seizures.
Mental efficiency
Mental deficiency may be severe,
but at the same time approximately 25% to 33% have
IQs in the normal range. However, the deficits in
language and socialization make it difficult to
obtain an accurate estimate of the autistic child's
intellectual potential. Occasionally, an autistic
child may have an isolated, remarkable talent, analogous
to that of the adult savant.
Neuropathology
Pathologic abnormalities have not
been conclusive, but in brain increased cell-packing
density and reduced neuronal cell size, and an absence
of obvious gliosis are suggestive of abnormal development
of portions of the limbic system and cerebellar
circuits. Autopsy studies have shown cerebellar
developmental hypoplasia in many autistic patients
Biological studies
- Dysfunction of association cortex
and decreased brain cellular metabolism has been
observed on PET, SPECT, MRI, and EEG and evoked
potential studies.
- Aberrant dopamine functioning
ahs been implicated, and abnormalities have been
suggested in a number of catecholamine pathways.
Increased levels of serotonin have also been noted.
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