International Journal of Social Impact

ISSN: 2455-670X
Volume 9, Issue 1, DIP: 18.02.005/20240901
DOI: 10.25215/2455/0901005
www.ijsi.in |January-March, 2024
Research Paper

Autism Spectrum Disorders: Advances in Understanding and

Intervention Strategies
Aiysha Noorie1, Arkadeb Dutta2, Ajay Kumar Harit3*, Priyesh Kumar Mishra4

ABSTRACT
Autism spectrum disorder is distinguished by a variety of early-onset difficulties in social
communication and repetitive sensory-motor activities, which are frequently anchored in a
major genetic component as well as other contributing elements. Individuals with autism are
today more optimistic than they were five decades ago, with a growing number learning to
speak, read, and participate actively in community life. However, full-time employment and
complete independence remain elusive for the majority. Despite the intriguing risk patterns
identified through genetic and neurological studies, practical applications remain limited. The
disorder's complex and mysterious origins strongly suggest a substantial genetic foundation.
ASD is growing more widespread across the world, with current research showing that 6 out
of every 1000 children are affected Biomarkers that examine early structural and functional
links, as well as other biological processes, have the ability to diagnose ASD risk before
obvious behavioural symptoms appear. Despite these advancements, diagnosis typically
occurs between the ages of 4-5. This study focuses on progress in identifying early
behavioural and biological indicators, discusses current screening options and challenges, and
explores best practices in diagnostic assessment, including emerging data on innovative
service models.

Keywords: Autism Spectrum Disorder (ASD), Diagnosis, Behaviour, Symptoms, Syndrome

A
utism is a pervasive developmental disease (PDD) that is a neurological illness.
These disorders are distinguished by three fundamental flaws: communication
difficulties, difficulty in reciprocal social connections, and engagement in restricted,
repetitive, and stereotyped patterns of behaviour or interests. The breadth and severity of
these deficiencies vary greatly, frequently occurring concurrently with the acquisition of
other developmental abilities. Autism is now considered a spectrum disorder, with
symptoms ranging from mild to severe. Regardless of this range, keep in mind that many,
but not all, people with autism spectrum disorder (ASD) may require continuous care.

1
Department of Forensic, Kalinga University, Naya Raipur, Chhattisgarh
2
Department of Zoology, Kalinga University, Naya Raipur, Chhattisgarh
3
Department of Zoology, Kalinga University, Naya Raipur, Chhattisgarh
4
Department of Biotechnology, Kalinga University, Naya Raipur, Chhattisgarh
*Corresponding Author
Received: January 17, 2024; Revision Received: January 21, 2024; Accepted: January 27, 2024
© 2024, Noorie, A., Dutta, A., Harit, A.K. & Mishra, P.K.; licensee IJSI. This is an Open Access Research
distributed under the terms of the Creative Commons Attribution License (www.creativecommons.org/
licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any Medium, provided the
original work is properly cited.
 Autism Spectrum Disorders: Advances in Understanding and Intervention Strategies

Despite the opinion that children with autism spectrum disorders (ASD) are outstanding
readers, there is a dearth of thorough information on their actual reading aptitude levels.
Existing literature gives two opposing viewpoints. To begin, it is commonly assumed that
poor oral language abilities considerably increase the probability of literacy issues in
youngsters (Bishop & Snowling, 2004; Catts & Kamhi, 2005). Because many autistic
children struggle with language, learning to read may be difficult for them (Tager-Flusberg
& Joseph, 2003). However, caution is suggested when generalizing from individual case
studies, especially considering the broad range of cognitive and linguistic abilities observed
in persons with ASD.

Autism disease is diagnosed when there are difficulties in communication and reciprocal
social interaction, as well as the onset of restricted, repetitive, and stereotyped behaviours or
interests before the age of three. The diagnosis is altered to Asperger disorder if autistic
symptoms are present but there is no severe overall impairment in language and cognitive
development. PDD-NOS is assigned when the symptoms of the trio are present but the
criteria for a specific Pervasive Developmental Disorder (PDD) are not totally met
(American Psychiatric Association, 2000). "Asperger disorder" and "high-functioning
autism" are terms that are occasionally used interchangeably (Mattila et al., 2007).

While families, educators, and direct caregivers have the most influence on the lives of
persons with autism spectrum disorder (ASD), physicians and other healthcare professionals
have a significant impact on individuals and their families as well. Their goal is to provide
information on the current state of ASD patients, to aid caregivers in predicting changes, and
to connect them with support providers and specialists as required. ASD has major
economic effects, owing mostly to the assistance required for persons who are unable to
function independently, resulting in increased healthcare and educational costs as well as
income loss for caretakers. The goal of this Seminar is to convey current research findings
in a concise manner, allowing professionals to provide well-informed counsel to ASD
families. It emphasizes that, despite the fact that ASD is a medical disorder, education and
behavioural therapy are the major therapies, with medicine acting as a beneficial
complement.

Genetics of Autism:
Over the last decade, the emphasis has shifted from a general idea of genetic risk to a more
specific analysis of a plethora of discrete individual genetic variations connected to autism
spectrum disorder (ASD) susceptibility. In twin and family studies, different rates of
diagnosis have resulted from evolving classifications of ASD. Recent research has focused
on autism genetics (Cook, 1998, 2000). The recent finding of the gene responsible for Rett's
syndrome (Amir et al., 1999) is a particularly notable genetic discovery connected to autism.
Rett's syndrome, a neurodevelopmental condition characterized by mental impairment, a
loss in communication abilities, and varying prevalence of autistic symptoms throughout
developmental stages, has given insight on the genetic basis. The study of autism genetics is
a complicated and broad area that investigates the role of genetic variables in autism
spectrum disorder (ASD). While the precise origins of autism are unknown, evidence clearly
shows a significant hereditary role. Autism has been found to have a high heritability,
implying that genetic factors play a substantial role in its development (Hallmayer et. al.,
2011). People who have a family history of ASD are more likely to have an autistic child.
Autism has been related to a variety of genetic abnormalities, including single nucleotide
polymorphisms (SNPs), copy number variations (CNVs), and rare mutations in specific
genes. Autism is assumed to be a polygenic disorder influenced by several genes. The
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 Autism Spectrum Disorders: Advances in Understanding and Intervention Strategies

disorder's intricacy is heightened by the interaction of several hereditary and environmental

factors. Specific genes with putative roles in autism, including as SHANK3, CNTNAP2, and
CHD8, have been identified, and mutations or alterations in these genes have been linked to
ASD in certain individuals (Larsen et al., 2016). Finally, the autism genetic landscape
comprises inheritance, particular gene linkages, de novo mutations, and the interplay of
genetic and environmental factors.

Neurobiology of Autism:
Autism Spectrum condition (ASD) is increasingly being recognized in neurobiology as a
whole-brain reconfiguration that happens early in development, rather than a condition
isolated to a single brain region or system (Muhle et al., 2018). Higher brain volume
development has been seen on many times during infancy and early childhood, as evidenced
by differences in neuroimaging-based estimations of brain capacity. Individuals with ASD
expand their brains quicker in childhood than typically developing youngsters, resulting in
disrupted connections (Gepner et. al., 2009). Autism neurobiology research presents
challenges, which are exacerbated by the illness's inherent heterogeneity—a disease with
varied degrees of severity. The current dispute is whether, despite their variability, autism
spectrum disorders have a shared neurological substrate or if they have many etiologies
affecting diverse brain systems yet converge on the basic deficiencies of aberrant social
behaviour, poor communication, and stereotyped behaviour.

Neuroimaging research has detected disparities in both the structure and function of the
brains of individuals with autism spectrum disorder (ASD), particularly in areas related to
social communication, language processing, and sensory integration (Ha et al., 2015).
Autism has been associated with various gene variations influencing brain development,
synaptic function, and the regulation of neural connections. The disorder's diversity arises
from the intricate interplay of multiple genes. Certain studies propose a potential connection
between immune dysregulation and autism, suggesting that factors related to the immune
system and inflammation during prenatal and early postnatal development could modify
neural development, elevating the risk of ASD.

According to studies using functional magnetic resonance imaging (fMRI), ASD is

represented by distinct patterns of brain connections (Wang et al., 2012). Coordination and
communication disruptions have been discovered across diverse brain areas, notably those
engaged in social cognition. Furthermore, some studies have found neuroinflammation in
ASD patients' brains, suggesting that activation of immune cells in the central nervous
system may result in impairments in neural function.

Diagnosis:
Physicians play an important role in the early detection of autism spectrum disorder (ASD)
since they are generally the first point of contact for parents. As a result, practitioners must
be able to differentiate between the many indications and symptoms of these illnesses
(Howlin et al., 2013). When there are qualitative deficiencies in social, linguistic, and
communication abilities, as well as recurring interests and behaviors, autism and similar
diseases should be suspected.

ASD diagnosis is a challenging procedure, particularly for children on both ends of the
spectrum (Zwaigenbaum et al., 2018). It may be difficult to determine the difference
between children with severe autistic symptoms and those with isolated major intellectual

© International Journal of Social Impact | ISSN: 2455-670X | 33

 Autism Spectrum Disorders: Advances in Understanding and Intervention Strategies

impairments. Individuals with mild symptoms may be misinterpreted as suffering from a

language or social anxiety problem.

A thorough ASD diagnosis is most likely to be achieved when a team of healthcare

specialists specializing in various disorders collaborates. As a result, every child suspected
of having ASD should be sent to a professional team for a thorough evaluation. The majority
of autistic youngsters have a standard medical evaluation.

This examination should include looking for any dysmorphic traits or skin pigmentations, as
well as a thorough neurological evaluation to rule out secondary reasons such fragile X
syndrome or tuberous sclerosis.

Many standardized tools and questionnaires are available to assess the presence of ASD
symptoms, which are commonly completed by parents, caregivers, teachers, or the
individual themselves depending on their age and level of functioning. The evaluation of
communication ability, including both verbal and nonverbal aspects, is crucial for diagnosis.
Individuals with ASD usually trouble with eye contact, gestures, and detecting social signs.
(Cañigueral, et. al., 2019). Furthermore, measuring the capacity to engage in age-appropriate
social interactions is critical, since difficulty initiating and sustaining relationships or
reacting to social signals may be suggestive of ASD. Individuals with ASD typically exhibit
repeated patterns of behaviour, such as hand-flapping or a propensity for routine, which
necessitates the evaluation of repetitive behaviours, stereotyped motions, and intense
interests in certain themes or things.

An etiologic study's yield may be increased when there is concomitant developmental delay
or intellectual disability (Maenner et al., 2014). It is crucial to recognize that the diagnostic
technique will vary based on the individual's age, level of functioning, and the experience of
the professionals involved. Early identification and intervention are critical for improved
outcomes, highlighting the significance of a thorough evaluation by trained professionals for
those suspected of having ASD. (Hyman et. al., 2020).

Treatment:
Autism Spectrum Disorders (ASDs) are chronic, life-long diseases for which there is now no
treatment (Faras et al., 2010). Specific pharmaceutical classes, notably atypical neuroleptics,
have been used to control related behavioral difficulties such as aggressiveness and self-
injurious behavior. According to research, the most effective therapy method comprises
early intense behavioral interventions designed to improve the functioning of afflicted
children.

Autism spectrum disorder (ASD) therapy is often customized and interdisciplinary, using a
variety of therapeutic interventions and supportive methods. Despite the lack of a cure for
ASD, early and thorough intervention can significantly improve results and an individual's
overall quality of life. (Rogers et. al., 2008).

A popular therapy approach called Applied Behavior Analysis (ABA) aims to change
behavior by rewarding positive behavior (Sarafino et al., 2011). This method involves
breaking abilities down into manageable chunks and progressively reinforcing desirable
behaviors. Positive Behaviour Support, on the other hand, strives to improve quality of life
and manage troublesome behaviors by recognizing behavior functions and adopting
proactive measures.
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 Autism Spectrum Disorders: Advances in Understanding and Intervention Strategies

Speech and language therapy, which includes speech, language, and nonverbal
communication, is critical in supporting people with ASD in improving communication
skills.

The Treatment and Education of Autistic and Related Communication-handicapped

Children (TEACCH) method stresses controlled educational settings and visual assistance to
improve learning and develop independence. (Mesibov et. al., 2005 It is critical to recognize
that the effectiveness of therapies varies amongst persons with ASD. As a result, treatment
strategies must be tailored to each individual's specific requirements and strengths. As
persons with ASD grow and develop, regular assessments and revisions to the intervention
plan are required.

Future direction:
Autism spectrum disorder (ASD)'s future trajectory includes continued research,
breakthroughs in intervention options, and a complete approach to supporting persons with
ASD and their family. (Damiano et. al., 2014). Within current health systems, effective
coordination of healthcare, education, and other services is critical, particularly for treating
problematic behaviors and developing adult residential and employment programs for
people with ASD.

Continuous attempts are being made to improve the early identification and diagnosis of
ASD, which may involve the use of biomarkers and genetic markers. (Shen et. al., 2020). To
improve outcomes for children with ASD, the emphasis is on establishing creative and
easily accessible early intervention programs. Individual features, genetic profiles, and
unique demands are used to adapt treatment techniques in the trend toward personalized
medicine.

The study of the genetic and neurological roots of ASD will continue in order to identify
specific pathways and therapeutic targets. The spread of telehealth services is expected to
enhance access to specialist treatment and interventions, particularly in low-resource areas.
The future of ASD focuses on a comprehensive, multidisciplinary, and collaborative
approach to meeting the different needs of people with ASD throughout their lives.

CONCLUSION
Many children and adults with Autism Spectrum Disorder (ASD) now have a higher quality
of life than they had 50 years ago. Adults with ASD are increasingly demonstrating abilities
such as talking, reading, driving, graduating from high school, and living independently in
the community. This favourable evolution is visible despite changes in diagnostic criteria
throughout time and individual cognitive levels. Physicians are critical in the early diagnosis
of children with ASD, acting as the first point of contact and arranging referrals to suitable
centres for further assessment and care.

While ASD screening may evolve to include a more extensive process of early risk
determination and pre-diagnostic intervention, receiving a clinical diagnosis of ASD remains
a watershed event for families. Future developments in ASD diagnostic frameworks should
aim to build fast and unified evaluation systems that respect family values. ASD's complex
structure, variety, and chronicity necessitate attention from several disciplines across
multiple temporal and situational situations. As a result, combining numerous data sources,
both contemporaneous and longitudinal, to adapt therapy techniques is a vital future
development for ASD evaluation. Finally, the preferences of the most important
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 Autism Spectrum Disorders: Advances in Understanding and Intervention Strategies

stakeholders in the assessment process: persons with ASD and their families, should be
prioritized in the future of ASD evaluation.

REFERENCES
American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders.
4th ed. Arlington, VA: American Psychiatric Publishing, Inc; 2000. p. 69-84.
Amir, R.E., Van den Veyver, I.B., Wan, M., Tran, C.Q., Francke, U., and Zoghbi, H.Y.
(1999). Rett sydnrome is caused by mutations in X-linked MECP2, encoding methyl-
CpG-binding protein 2. Nat. Genet. 23, 185–188.
Bishop, D. V. M., & Snowling, M. J. (2004). Developmental dyslexia and specific language
impairment: Same or different? Psychological Bulletin, 130, 858–886.
Cañigueral, Roser, and Antonia F. de C. Hamilton. "The role of eye gaze during natural
social interactions in typical and autistic people." Frontiers in psychology 10 (2019):
560.
Cook, E. (1998). Genetics of autism. Mental Retard. Dev. Disabil Res. Rev. 4, 113–120.
Cook, E.H. (2000). Genetics of autism. Child Adolesc. Psychiatric Clin. N. Am., in press.
Damiano, Cara R., Carla A. Mazefsky, Susan W. White, and Gabriel S. Dichter. "Future
directions for research in autism spectrum disorders." Journal of Clinical Child &
Adolescent Psychology 43, no. 5 (2014): 828-843.
Faras, Hadeel, Nahed Al Ateeqi, and Lee Tidmarsh. "Autism spectrum disorders." Annals of
Saudi medicine 30, no. 4 (2010): 295-300.
Gepner, Bruno, and François Féron. "Autism: a world changing too fast for a mis-wired
brain?." Neuroscience & Biobehavioral Reviews 33, no. 8 (2009): 1227-1242.
Ha, Sungji, In-Jung Sohn, Namwook Kim, Hyeon Jeong Sim, and Keun-Ah Cheon.
"Characteristics of brains in autism spectrum disorder: structure, function and
connectivity across the lifespan." Experimental neurobiology 24, no. 4 (2015): 273.
Hallmayer, Joachim, Sue Cleveland, Andrea Torres, Jennifer Phillips, Brianne Cohen,
Tiffany Torigoe, Janet Miller et al. "Genetic heritability and shared environmental
factors among twin pairs with autism." Archives of general psychiatry 68, no. 11
(2011): 1095-1102.
Howlin P, Moss P, Savage S, Rutter M. Social outcomes in mid- to later adulthood among
individuals diagnosed with autism and average nonverbal IQ as children. J Am Acad
Child Adolesc Psychiatry 2013; 52: 572–81. e1.
Hyman, Susan L., Susan E. Levy, Scott M. Myers, Dennis Z. Kuo, Susan Apkon, Lynn F.
Davidson, Kathryn A. Ellerbeck et al. "Identification, evaluation, and management of
children with autism spectrum disorder." Pediatrics 145, no. 1 (2020).
Larsen, Eric, Idan Menashe, Mark N. Ziats, Wayne Pereanu, Alan Packer, and Sharmila
Banerjee-Basu. "A systematic variant annotation approach for ranking genes
associated with autism spectrum disorders." Molecular autism 7 (2016): 1-8.
Maenner MJ, Rice CE, Arneson CL, et al. Potential impact of DSM-5 criteria on autism
spectrum disorder prevalence estimates. JAMA Psychiatry 2014; 71: 292–300.
Mattila ML, Kielinen M, Jussila K, Linna SL, Bloigu R, Ebeling H, Moilanen I. An
epidemiological and diagnostic study of Asperger syndrome according to four sets of
diagnostic criteria. J Am Acad Child Adolesc Psychiatry 2007; 46:636-46.
Mesibov, Gary B., Victoria Shea, and Eric Schopler. The TEACCH approach to autism
spectrum disorders. Springer Science & Business Media, 2005.
Rogers, Sally J., and Laurie A. Vismara. "Evidence-based comprehensive treatments for
early autism." Journal of Clinical Child & Adolescent Psychology 37, no. 1 (2008):
8-38.

© International Journal of Social Impact | ISSN: 2455-670X | 36

 Autism Spectrum Disorders: Advances in Understanding and Intervention Strategies

Sarafino, Edward P. Applied behavior analysis: Principles and procedures in behavior

modification. John Wiley & Sons, 2011.
Shen, Liming, XuKun Liu, Huajie Zhang, Jing Lin, Chengyun Feng, and Javed Iqbal.
"Biomarkers in autism spectrum disorders: Current progress." Clinica Chimica
Acta 502 (2020): 41-54.
Tager-Flusberg, H., & Joseph, R. M. (2003). Identifying neurocognitive phenotypes in
autism. Philosophical Transactions of the Royal Society of London Series B-
Biological Sciences, 358(1430), 303–314.
Wang, Hui, Chen Chen, and Hsieh Fushing. "Extracting multiscale pattern information of
fMRI based functional brain connectivity with application on classification of autism
spectrum disorders." (2012): e45502.
Zwaigenbaum, Lonnie, and Melanie Penner. "Autism spectrum disorder: advances in
diagnosis and evaluation." Bmj 361 (2018).

Acknowledgment
We thank the Kalinga University authority for providing us the opportunity to write and
publish a research article. Secondly, I would like to thank my parents, my guide and my
friends for constantly supporting me in writing the paper.

Conflict of Interest
The author(s) declared no conflict of interest.

How to cite this article: Noorie, A., Dutta, A., Harit, A.K. & Mishra, P.K. (2024). Autism
Spectrum Disorders: Advances in Understanding and Intervention Strategies. International
Journal of Social Impact, 9(1), 31-37. DIP: 18.02.005/20240901, DOI: 10.25215/2455/0901
005

© International Journal of Social Impact | ISSN: 2455-670X | 37