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Aetiology of Autism
The precise aetiology of Autism remains essentially unknown, despite considerable
research into the genetic, biological, pharmacological and environmental factors involved in the
development and manifestation of the disorder (Whitely, Rodgers & Shattock, 1998).
There is agreement that autism is caused by a dysfunction in the central nervous system
with an underlying genetic bases, there are conflicting views as to its defining characteristics and
the casual explanation linking brain dysfunction to behavioral characteristics(Kusch &
Refermann, 1995).
Additionally, it is agreed that Autism can be defined at three different interdependent
levels, as a neurological disorder related to brain development, as a psychological disorder
affecting cognitive, emotional and behavioral development and lastly as a relationship disorder to
develop age appropriate socialization skills.
The third aspect of agreement involves the idea of Autism as a spectrum disorder,
although the spectrum cannot be clearly defined simply from mild to severe (Kabot et al., 2003).
Different children manifest different combinations of symptoms of varying severity although all
sharing the core deficit in forming relationship and communication (Kusch & Petermann, 1995)
highlighting the complexity of the disorder particularly in relation to reliable diagnosis.
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Social impairment
The first core feature of autism is qualitative impairment of social interaction and
relationships (Hobson, 1989; Mundy & Sigman, 1989; Ungers, 1989; Volkmar 1987). In infant
this may be exhibited as rigidity, failure to seek physical comfort from other people (De meyer,
1979), and failure to develop normal attachment to parents and caregivers. They fail to develop
reciprocal eye contact and social smiling (Volkmar, 1987). As children with Autism develop,
social skill deficits remain (Rutter & Garmezy, 1983). They rarely engaged in peer play (Howlin
& Rutter, 1987).
Language impairment
Poor communicative skills are hallmark of autism (Rutter, 1978). In fact many children
with autism never acquire functional language skill. When speech does develop, it is often
marked with irrelevant content and stereotyped and repetitive vocalizations. Improper use of
language and inability to use language for social communication are more characteristics of
autistic language deficit (Howlin & Rutter, 1987). Finally, the ability to sustain conversation and
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produce spontaneous language is greatly limited in person with Autism (Matson, Sevin et al.,
1990).
Behavior impairment
In children with autism shows hand clapping or arm flapping whenever excited or
upset. Running aimlessly, rocking, spinning, toe walking or other odd postures are commonly
seen in children with Autism. The play of children with Autism is characteristically rigid and
lacking in variety and imagination (Rutter, 1978). Changes in enviroment, such as rearranging
furniture, can result in extreme emotional reactions (Kanner, 1951).
The final core feature of Autism is abnormal response to sensory stimuli. The children
with autism responding with undue distress to low volume sounds or being unable to
differentiate between verbal communication and other environmental noises are common.
Screening of ASD
Empirical studies of toddlers with Autism spectrum disorder had found that intensive,
specialized early intervention had resulted in quantifiable gains(Harper et al., 2002; McEachin et
al., 1993; Sallow & Groupner, 2005; Schreibman, 2000). In order to maximize the opportunity
for specialized early intervention, the early identification and diagnosis of ASD were especially
important (American Academy of Pediatrics [AAP], 2006). Recently, the AAP (Johnson et
al.,2007) even suggested that it was important for children suspected of ASD to begin
intervention services.
Early identification studies support the feasibility and validity of early diagnosis, even
as early as 2 years (Baird et al.,2000; Robins et al., 2001; Stone et al., 2000). Along with
screening studies, retrospective studies of infant videotapes (Baranek, 1999; Osterling &
Dowson, 1994; Werner et al., 2000), diagnostic stability studies(Charman & Biard, 2002;
Gillberg et al.,1990; Kleinman et al., 2008; Lord, 1995; Stone et al., 1999), and inter rater
reliability studies (Klin et al.,2000; Stone et al.,1994) have supported the validity of early
diagnosis and have identified symptoms that may be present in the early developmental course of
ASD.
In addition prospective studies of ASD have been useful in indentifying symptoms
present in high-risk infants (such as younger siblings of children with ASD) later diagnosed on
the Autism spectrum (Landa et al., 2007; Yirmiya & Ozonoff, 2007; Zwaigenbaum et al.,2007).
These studies, which have focused on young infants and toddlers, have provided a picture of the
symptoms and patterns of behavior observed in the very early course of the disorder.
Screening of ASD can lead to improved early identification and referral for a diagnostic
evaluation. All professionals involved in early child care (Pediatricians, Neurologists,
Psychiatrists, Psychologists, Audiologists, Language pathologists, Occupational therapist and
Physical therapist) should be sufficiently familiar with the signs and symptoms of autism
recognize possible indicator(Social, Communicative and behavioral) of the need for further
diagnostic evaluation (Filipek et al.,1999).
When comparing with the above instruments M-CHAT is highly sensitive and specific
in the screening for Autism in age of 18-24 months. It was developed by Diana Robins a
Psychiatrist in Connecticut in 1999.
It consist of 23 yes/no question which is filled by the parents required 5 minute for
completion. it is available in so many languages which helps parents to easily understand the
content.
It is important to realize that parents usually are correct in their concerns about their
childs development (Glascoe, 1994, 1997, 1998; Glascoe & Dworkin, 1995). They may not be
as accurate regarding the qualitative and quantitative parameters surrounding the developmental
abnormality, but almost always, if there is a concern on chief complaint must be valued and lead
to further investigation.
M-CHAT retained the 9 parent report items from the CHAT and added 14 additional
items, based on a survey of the literature and clinical judgment. Six critical items were identified
from the 23 items on the M-CHAT they were Protodeclarative pointing, response to name,
interest in peers, bringing things to show to parents, following a point, imitation. Children who
failed any 3 of 23 total items or 2 of 6 critical items were categorized as at risk for ASD.
The CARS (Childhood Autism Rating Scale) is the level-II screening instrument
developed by the Schopler et al., in 1988 in North Carolina. It is a 15-item structured interview
and observation instrument which is suitable for use with any child over 24 months of age. Each
of the 15 items uses a 7-point rating scale to indicate the degree to which the childs behavior
deviates from an age-appropriate norm; in addition, it distinguishes mild-to-moderate from
severe autism. The CARS is widely recognized and used as a reliable instrument for the
diagnosis of Autism, and takes approximately 30 to 45 minutes to administer (Schopler, Reichler,
De Vellis, & Daly, 1980).