Autism and Autism Spectrum Disorders: 2 Important Features, 5 Causes, and 6 Treatment

Introduction

Autism Spectrum Disorder (ASD) represents a group of complex neurodevelopmental conditions characterized by persistent difficulties in social communication and interaction, alongside restricted, repetitive patterns of behavior, interests, or activities (American Psychiatric Association, 2013). First identified in the mid-20th century, autism has undergone considerable reclassification and reconceptualization. The DSM-5 consolidated previously separate diagnoses — including autistic disorder, Asperger’s disorder, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified (PDD-NOS) — into a single umbrella term: Autism Spectrum Disorder. This change reflects the broad variability in symptom presentation, severity, and functional impairment across individuals (APA, 2013; Butcher, Mineka, & Hooley, 2014).

Autism Features

Autism prevalence has risen sharply over recent decades, not necessarily due to a true increase in incidence but largely attributed to better awareness, broader diagnostic criteria, and improved screening (Nevid, Rathus, & Greene, 2014). Globally, ASD is estimated to affect 1 in 100 children, with males diagnosed more frequently than females (World Health Organization, 1992; Comer, 2007). ASD presents lifelong challenges, but early intervention and supportive treatment strategies can dramatically improve adaptive functioning, communication, and quality of life.

Read More: ICD and DSM

Features of Autism Spectrum Disorder

The DSM-5 outlines two broad categories of symptoms for diagnosing ASD (APA, 2013).

1. Deficits in Social Communication and Interaction

Children and adults with ASD consistently show impairments in:

• • Social reciprocity: Difficulties initiating or responding to social interactions, ranging from reduced sharing of emotions and interests to failure to initiate or sustain conversation. For example, a child with ASD may not respond to their name being called or may avoid eye contact (Davison, Neal, & Kring, 2004).
  • Nonverbal communication: Problems with using and interpreting gestures, body language, and facial expressions. This deficit makes social exchanges difficult, even when language skills are relatively intact (Barlow & Durand, 2005).
  • Developing and maintaining relationships: Many individuals struggle to adjust behavior across contexts, engage in imaginative play, or make age-appropriate friendships (Butcher et al., 2014).

2. Restricted, Repetitive Patterns of Behavior

These behaviors manifest in several ways:

• • Stereotyped or repetitive movements: Examples include hand-flapping, rocking, spinning objects, or echolalia (repetition of words/phrases) (Comer, 2007).
  • Insistence on sameness: Individuals may become distressed with changes in routine, demonstrating rigid adherence to schedules or rituals.
  • Highly restricted, fixated interests: These can be unusually intense, such as preoccupation with trains, numbers, or specific TV shows.
  • Hyper- or hypo-reactivity to sensory input: Sensory processing differences include unusual sensitivity to sounds, lights, textures, or pain (Nevid et al., 2014).

Spectrum Nature of ASD

The term “spectrum” emphasizes the wide variability in severity, abilities, and comorbidities. While some individuals remain nonverbal and require substantial daily support, others may have average or above-average intelligence and achieve academic and professional success with adequate support (APA, 2013). Asperger’s syndrome, now subsumed under ASD, described individuals with preserved language and intellectual functioning but significant social challenges (Carson, Butcher, Mineka, & Hooley, 2007).

Causes of Autism Spectrum Disorder

Despite decades of research, the precise causes of ASD remain incompletely understood. The prevailing view is that autism arises from a complex interplay of genetic predisposition, neurobiological abnormalities, and environmental influences (Butcher et al., 2014).

1. Genetic Factors

Genetics play a central role, with heritability estimates ranging from 50% to 90% (APA, 2013).

• • Twin and family studies reveal higher concordance rates among monozygotic twins compared to dizygotic twins (Sue, Sue, & Sue, 2006). Siblings of children with ASD are at increased risk.
  • Candidate genes and chromosomal abnormalities: Variants on genes related to synaptic function, neuronal signaling, and brain development (e.g., SHANK3, MECP2, NRXN1) have been implicated (Nevid et al., 2014). Fragile X syndrome, Rett syndrome, and tuberous sclerosis are genetic disorders associated with higher ASD prevalence (Carson et al., 2007).

Genetic predisposition does not guarantee autism but increases vulnerability, suggesting gene–environment interactions are critical.

2. Neurobiological Factors

Causes of Autism

• • Brain structure and connectivity: Imaging studies show atypical growth patterns, including early brain overgrowth followed by slowed development. Abnormalities in the amygdala, cerebellum, and prefrontal cortex have been linked to impaired social processing and repetitive behaviors (Barlow & Durand, 2005).
  • Neurotransmitter systems: Elevated serotonin levels and abnormal gamma-aminobutyric acid (GABA) signaling have been reported in individuals with ASD (Davison et al., 2004).
  • Abnormal connectivity: Individuals with ASD often display both underconnectivity between distant brain regions and hyperconnectivity within local networks, contributing to difficulties integrating information (Butcher et al., 2014).

3. Prenatal and Perinatal Risk Factors

Environmental influences before and during birth contribute to risk:

• • Maternal infections: Rubella, cytomegalovirus, and influenza during pregnancy are linked to increased ASD risk (Puri, Laking, & Treasaden, 1996).
  • Prenatal exposure to toxins: Alcohol, valproic acid (antiepileptic drug), and air pollutants have been associated with higher ASD rates (Comer, 2007).
  • Obstetric complications: Prematurity, low birth weight, and perinatal hypoxia may exacerbate vulnerability (Sarason & Sarason, 2002).

4. Psychosocial Factors and Myths

Earlier psychoanalytic theories incorrectly blamed “refrigerator mothers” (cold and unemotional parenting) for autism (Kanner, 1943). This view has been discredited. Contemporary research confirms autism is not caused by parenting style, though family environment can influence adaptation and comorbidity (Nolen-Hoeksema, 2004).

Similarly, vaccines do not cause autism — a misconception stemming from a discredited 1998 study. Large-scale epidemiological studies have consistently found no link between vaccines and ASD (APA, 2013).

5. Multifactorial Interaction

Most scholars now adopt a multifactorial model, where genetic vulnerability interacts with environmental stressors to disrupt neural development. For example, a genetically predisposed fetus exposed to prenatal toxins may have a greater likelihood of developing ASD than one without such exposure (Alloy, Riskind, & Manos, 2005).

Treatment of Autism Spectrum Disorder

ASD has no cure, but early and sustained interventions can significantly enhance communication, adaptive functioning, and quality of life. Treatments are typically multimodal, involving behavioral, educational, medical, and family-based approaches (APA, 2013).

1. Behavioral Interventions

• • Applied Behavior Analysis (ABA): A widely used evidence-based intervention, ABA employs reinforcement strategies to shape communication, self-care, and social skills while reducing maladaptive behaviors (Comer, 2007).
  • Discrete Trial Training (DTT): A structured form of ABA that breaks tasks into small steps and uses repetition and reinforcement (Nevid et al., 2014).
  • Early Intensive Behavioral Intervention (EIBI): Initiated before age 5, this approach improves IQ, language, and adaptive functioning in many children (Barlow & Durand, 2005).

2. Educational Interventions

• • Structured teaching approaches, such as TEACCH (Treatment and Education of Autistic and Related Communication-Handicapped Children), use visual supports and individualized learning (Carson et al., 2007).
  • Individualized Education Programs (IEPs): Tailored educational plans target strengths and weaknesses, fostering inclusion in mainstream settings where possible (Davison et al., 2004).

3. Communication and Social Skills Training

• • Speech and language therapy addresses deficits in verbal and nonverbal communication.
  • Social skills groups teach conversational turn-taking, recognizing emotions, and building peer relationships (Sue et al., 2006).

4. Medical Treatments

No medication treats the core features of autism, but pharmacotherapy manages comorbid symptoms:

1. 1. Antipsychotics (e.g., risperidone, aripiprazole) reduce aggression, irritability, and self-injury.
   2. Stimulants may alleviate hyperactivity and inattention.
   3. SSRIs are sometimes used to address anxiety or obsessive-compulsive symptoms (Fauman, 1996; Nevid et al., 2014).

5. Family Support and Counseling

Parental involvement is crucial. Training programs teach parents how to manage challenging behaviors, reinforce learning, and cope with stress. Support groups and counseling reduce caregiver burnout (Butcher et al., 2014).

6. Community and Policy Interventions

Legislation such as the Mental Health Care Act (2017, India) and international frameworks emphasize inclusion, rights, and community-based rehabilitation. Community awareness campaigns reduce stigma and promote social integration (WHO, 1992).

Prognosis and Outcomes

ASD is a lifelong condition, but outcomes vary widely. Predictors of better prognosis include:

• • Early diagnosis and intervention.
  • Higher intellectual functioning.
  • Functional language by age 5.
  • Strong family and social support (APA, 2013).

Some individuals achieve independence, employment, and fulfilling relationships, while others require lifelong care. The “spectrum” concept underscores this diversity.

Conclusion

Autism Spectrum Disorder is a complex neurodevelopmental condition characterized by deficits in social communication and restricted, repetitive behaviors. Its causes are multifactorial, involving genetics, neurobiological abnormalities, and environmental influences. Importantly, outdated psychosocial theories and myths have been replaced by strong scientific consensus emphasizing biological underpinnings.

Though no cure exists, a combination of behavioral, educational, medical, and family-based interventions can significantly improve functioning. With appropriate support and inclusive policies, individuals with ASD can thrive, highlighting the importance of early detection, evidence-based treatment, and societal acceptance.

References

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World Health Organization (1992). ICD-10 Classification of Mental and Behavioral Disorders: Clinical Description and Diagnostic Guidelines. Oxford University Press.

The Mental Health Care Act (2017). Government of India.