AUTISM

Definition :
Autism, or autism spectrum disorder (ASD), refers to a broad range of conditions
characterized by challenges with social skills, repetitive behaviors, speech and
nonverbal communication.
We know that there is not one autism but many subtypes, most influenced by a
combination of genetic and environmental factors. Because autism is a spectrum
disorder, each person with autism has a distinct set of strengths and challenges.
The ways in which people with autism learn, think and problem-solve can range
from highly skilled to severely challenged. Some people with ASD may require
significant support in their daily lives, while others may need less support and, in
some cases, live entirely independently.
Etiology :
Genetic influence:
Infantile autism was first described by Kanner in 1943. Based on the observation
that symptoms often began shortly after birth and always by two or three years of
age, Kanner believed that autism was caused by an unknown, inborn defect.
Because this syndrome was so severe and peculiar, it seemed unlikely to be an
understandable outcome of a child's life experiences. In the years since Kanner first
described this disorder, research findings have supported his initial interpretations.
It is now generally accepted that autism has a biologic cause, and considerable
research has been carried out with the aim of uncovering its nature. Both hereditary
factors and the prenatal and perinatal environment have been considered. This
paper will review the role of genetic factors in the cause of autism; the role of the
prenatal and perinatal environment is considered in the paper by Nelson.
Three types of genetic associations have been described: (1) the familial
aggregation of autism, per se-autism is more common in the sibs of affected
children; (2) the familial aggregation of other disorders in the family members of
autistic children a variety of disorders that are mild, but probably conceptually
related, have recently been described in relatives; and (3) autism appears in
association with a few particular disorders of known genetic etiology.
FAMILIAL AGGREGATION OF AUTISM
Population and Family Studies
In most case series and a few population-based studies, the prevalence of autism in
the siblings of autistic children has been estimated to be about 2% to 3%. While
this number is small, it is 50 to 100 times greater than the expected rate of autism
of 4 to 5 per 10 000 in the population.

Understanding and Determining :

Worldwide, the rate of autism has been steadily rising. There are several
environmental factors in concert with genetic susceptibilities that are contributing
to this rise. Impaired methylation and mutations of mecp2 have been associated
with autistic spectrum disorders, and related Rett syndrome. Genetic
polymorphisms of cytochrome P450 enzymes have also been linked to autism,
specifically CYP27B1 that is essential for proper vitamin D metabolism. Vitamin
D is important for neuronal growth and neurodevelopment, and defects in
metabolism or deficiency have been implicated in autistic individuals. Other
factors that have been considered include: maternally derived antibodies, maternal
infection, heavy metal exposure, folic acid supplementation, epigenetics, measles,
mumps, rubella vaccination, and even electromagnetic radiation. In each case, the
consequences, whether direct or indirect, negatively affect the nervous system,
neurodevelopment, and environmental responsive genes. The etiology of autism is
a topic of controversial debate, while researchers strive to achieve a common
objective. The goal is to identify the cause of autism to understand the complex
interplay between environment and gene regulation. There is optimism that
specific causes and risk factors will be identified. The results of future
investigations will facilitate enhanced screening, prevention, and therapy for “at
risk” and autistic patients.

Prenatal and Perinatal Factors :

This paper will review studies on prenatal and perinatal factors and the etiology of
autism. It will focus on whether identified risk factors have been consistent from
report to report, the extent to which identified risk factors are likely to be causal,
and the extent to which identification of these factors can contribute to the
development of strategies for the prevention of autism.
Autism is one of a group of disorders often described as the developmental
disabilities. Other disorders in this group are mental retardation, cerebral palsy,
epilepsy, and learning disorders. Like these other disorders, autism is delineated by
a set of observable dysfunctions and to some extent also by a shared natural
history.
Like these other disorders, autism is not a disease in the sense of having known
biologic markers or known major etiologic factors in common. It is probable that
autism is not the result of a single etiologic factor.
Before examining the literature on autism, it may be useful to consider briefly what
is known about maternal, pregnancy, and birth factors in the other developmental
disabilities.
EXPERIENCE WITH OTHER DEVELOPMENTAL DISABILITIES
Contrary to expectations based on a hypothetical "continuum of reproductive
causality," different developmental disabilities often have different major
predictors. For example, the major known predictors of mental retardation and
learning disorders are family characteristics such as educational level of the parents
and measures of socioeconomic status. These characteristics are not important risk
factors for cerebral palsy or epilepsy. Low birth weight is related to cerebral palsy
but not to epilepsy in persons without cerebral palsy.

Risk Factor :

A risk factor is something that raises your chances of getting a health problem.
Autism spectrum disorders (ASD) can happen with or without any of the risks
listed below. The more that are present, the higher the chances that ASD can
develop. There is no known way to change your child's risk for ASD.
There has been much attention in the media about a link between ASD and
vaccines. This is partly because of a vaccine preservative called thimerosal. No
studies have found any link between vaccines and ASD.
ASD is more common in white males. But when girls have ASD, their symptoms
may be more intense.
Other factors that make the risk higher:
Genetics. ASD tends to run in families. This is mainly true with twins or other
siblings. There may be a link with problems in a certain chromosome and ASD.
But it may only affect a small percentage of children. Age of Parents Either parent
35 years or older can make the risk of ASD in a child higher. The risk goes up with
a parent's age. Problems from Pregnancy or Birth Mothers who had problems
during pregnancy or birth may raise the risk of ASD risk in their children. This
may include:
Babies born too early—the risk is higher with earlier birth (especially at 26 weeks
of pregnancy)
Breech delivery or other birth trauma
Babies born with lower than normal birth weight
Babies born with birth defects
Other Health Problems
There is a wide range of health issues linked to ASD. These include: Genetic
disorders such as Fragile X syndrome, Rett syndrome, Down syndrome, or
tuberous sclerosis
Developmental disorders such as attention deficit hyperactivity disorder (ADHD),
tic disorders such as Tourette syndrome, or those with language or movement
problems
Epilepsy
Problems in the gut such as gastroesophageal reflux, or ongoing constipation,
diarrhea, or belly pain
Immune system problems
Sleep problems
Mental health problems such as personality, anxiety, behavioral, and psychotic
disorders, depression, or substance or alcohol use disorders

Clinical Manifestation :
Autism spectrum disorder (ASD) is a range of neurodevelopmental disorders
predominantly characterized by impaired social functioning and communication
disturbances. Symptoms can include intense focus on one item, unresponsiveness,
lack of understanding social cues (like tone of voice or body language), repetitive
movements, or self-abusive behavior like head-banging. The severity of the
symptoms varies widely among affected individuals. Other possible symptoms
include learning to speak relatively late, not playing interactively with other
children, avoidance of eye contact, lack of empathy, and social withdrawal.
Children with ASD who have not developed sufficient language skills may act out,
including screaming or crying, to express their needs. It is important to note that
people with ASD may vary widely in their level of functioning, and not all people
with ASD will experience all of the symptoms listed.
Early symptoms and signs in babies may vary but can include lack of eye contact
or decreased eye contact, being overly focused on one item, and lack of back-and-
forth play. Very young children may show early symptoms like loss of interest in
social contact and social withdrawal.
Asperger syndrome is the name of a condition that was formerly classified as a
separate entity by the Diagnostic and Statistical Manual of Mental Disorders
published by the American Psychiatric Association. In the most recent version of
this diagnostic guide, Asperger syndrome has been removed as a formal diagnosis;
those with the symptoms of what was formerly referred to as Asperger syndrome
are now grouped in the category of autism spectrum disorder.
Autism causes and risk factors
The exact cause of autism spectrum disorder is not known, but it is believed that
both genetic and environmental factors are involved.

Other autism symptoms and signs

Abnormal Body Posturing or Facial Expressions
Abnormal Tone of Voice
Avoidance of Eye Contact or Poor Eye Contact
Behavioral Disturbances
Deficits in Language Comprehension
Delay in Learning to Speak
Flat or Monotonous Speech
Inappropriate Social Interaction
Intense Focus on One Topic
Lack of Empathy
Lack of Understanding Social Cues
Learning Disability or Difficulty
Not Engaging in Play With Peers
Preoccupation With Specific Topics
Problems With Two-Way Conversation
Repeating Words or Phrases
Repetitive Movements
Self-Abusive Behaviors
Sleep Disturbances
Social Withdrawal
Unusual Reactions in Social Settings
Using Odd Words or Phrases

Nursing Management:
1. The nurse must be able to familiarize the combination of symptoms associated
with autism of the patient.
2. The nurse is the coordinator of therapies and interventions that meet the specific
needs of individual children.
3. During the treatment session, the nurse’s main goal is to provide safety. The
nurse must ensure that unnecessary things that may harm the child are removed
from the area. It is also important to let the other staff members know of the child’s
special needs.
4. Apply appropriate behavioral strategies are implemented. One example is the
applied behavioral analysis (ABA). This program uses a one-on-one teaching
approach that reinforces the practice of various skills. The goal is to get the child
close to normal developmental functioning.
5. Listen to the child, his parents and the caregivers. As a nurse, you have to be an
effective channel of communication among these people.