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Autism Spectrum Disorder Essay Paper

Autism Spectrum Disorder Essay Paper

Definition

Autism spectrum disorder is a neurodevelopmental disorder characterized by deficits in social communication, restricted interest, and repetitive behaviors (Hodges, Fealko, & Soares, 2020).

Diagnostic and Statistical Manual of Mental Disorders – 5 (DSM-5-TR) definitions:

The persistent deficits define Autism Spectrum Disorder in social ((use of verbal and non-verbal) communication across multiple contexts (criterion A) along with restrictive, repetitive patterns of behavior, interests, or activities (criterion B) (First et al., 2021)Autism Spectrum Disorder Essay Paper.

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New in DSM-5-TR

The new addition to DSM-5-TR is the revision of criterion A to read as follows: “as manifested by all of the following” to ensure that all three symptoms must be present for a diagnosis of autism spectrum disorder (First et al., 2021). The sensory symptoms were added under Criterion B in the transition from DSM-IV to DSM-5. Therefore, the disease is diagnosed by a dyad requiring that both diagnostic criteria are satisfied (Hodges, Fealko, & Soares, 2020)Autism Spectrum Disorder Essay Paper.

Signs and Symptoms

Criterion A

A persistent deficit in social communication and interaction across multiple contexts is manifested by:

  1. Deficits in social-emotional reciprocity,
  2. Deficits in non-verbal communication, and
  3. Deficits develop, maintain, and understand relationships (Hodges, Fealko, & Soares, 2020; Aishworiya et al., 2022).

Consequently, the individual with ASD will depict abnormal social approaches and failure to reciprocate conversation. They have reduced sharing of interests, emotions, or affect and tend to fail to initiate or respond to social interactions (Hodges, Fealko, & Soares, 2020). They tend to have poorly integrated verbal and non-verbal communication, gesture, eye contact, and body language abnormalities (Hodges, Fealko, & Soares, 2020)Autism Spectrum Disorder Essay Paper. They will often experience difficulties sharing imaginative play or making friends.

Criterion B

Restricted, repetitive patterns of behavior, interest, or activities as manifested by at least two of the following:

  1. Stereotyped or repetitive motor movements, speech, or use of objects,
  2. Insistence of the same things, tend to be inflexible with inflexible adherence to schedules, or have ritualized patterns of verbal or non-verbal behavior,
  3. Highly restricted, fixated interests that are abnormal in intensity or focus, or
  4. Hyper – or hypo-activity to sensory input or unusual interest in sensory aspects of the environment (Hodges, Fealko, & Soares, 2020; Aishworiya et al., 2022)Autism Spectrum Disorder Essay Paper.

Epidemiology

Globally, the prevalence of ASD is estimated to be 0.76%, affecting approximately 16% of the global child population (Hodges, Fealko, & Soares, 2020). In the United States, the disease affects 1 in 59 (1.68%) children aged eight years, with a mean age at diagnosis being 4 to 5 years (Hodges, Fealko, & Soares, 2020; Parmeggiani, Corinaldesi, & Posar, 2019). The disease is more common among Caucasian children than in African American or Hispanic children (Hodges, Fealko, & Soares, 2020). The causes of this disparity in diagnosis have been postulated to be due to stigma, inequitable access to healthcare services, and communication barriers, especially among the immigrants who do not know or are not fluent in English (Hodges, Fealko, & Soares, 2020). The male to female ratio of occurrence of the disease is 3:1, with a male predilection (Hodges, Fealko, & Soares, 2020). The disparity in gender diagnosis is attributable to the “camouflaging” effects that are more common among females and gender stereotypes viewing ASD as a male disorder, thus creating difficulties where gender is concerned (Hodges, Fealko, & Soares, 2020)Autism Spectrum Disorder Essay Paper.

Consideration related to Culture, Gender, and Age

Given the ensuing high disparities in diagnosis in different cultures and gender, it is crucial to assume due diligence when handling patients from different cultures and sex. The practitioner should ensure that they remove all identified barriers such as language barriers to communication and free themselves from gender stereotypes to afford the patient a comprehensive assessment and assign the appropriate diagnosis.

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Etiology

The risk factors for the disease include genetic disorders such as Down syndrome, tuberous sclerosis, fragile X syndrome, and Rett syndrome, which have a higher rate of co-occurring ASD. Advanced parental age and prematurity at birth are the other risk factors for ASD. Advanced parental age is presumed to be associated with older gametes and hence a higher chance of accumulated mutations that could result in additional obstetrical complications, such as prematurity, and therefore a higher risk of ASD (Hodges, Fealko, & Soares, 2020). The cause of the disease is not well understood as no one definitive cause has been determined. However, genetics and environmental factors are critical in this disease’s pathogenesis, with the etiopathogenesis being multifactorial (Parmeggiani, Corinaldesi, & Posar, 2019). The structural abnormalities in brain anatomy in patients with ASD include a difference in cerebellar architecture and connectivity, limbic system abnormalities, and temporal and frontal lobe cortical alterations (Hodges, Fealko, & Soares, 2020)Autism Spectrum Disorder Essay Paper. These areas of the brain explain the patient’s presentation regarding the lack of or difficulty in social reciprocity.

Development and Course

ASD symptoms may present in early childhood. However, the disease or symptoms do not become evident until the social demands exceed limited capacities (Hodges, Fealko, & Soares, 2020). These symptoms may also be masked by learned strategies (Hodges, Fealko, & Soares, 2020). The age of onset or diagnosis of the disease varies between 7 and 12 months and between 13 and 24 months in other patients (Parmeggiani, Corinaldesi, & Posar, 2019). The most common early affected areas include social interaction and language (Parmeggiani, Corinaldesi, & Posar, 2019). The most common complaint prompting medical consultations is delayed speech, and most patients without intellectual disability tend to have stagnation in growth compared to slow or regression of development (Parmeggiani, Corinaldesi, & Posar, 2019).

Screening

The appearance of the symptoms in early life is the basis for screening of children at risk for developmental diseases often conducted at 9, 15, and 30 months during good visits and for ASD at 18 months and again at 24 or 30 months (Hodges, Fealko, & Soares, 2020)Autism Spectrum Disorder Essay Paper.

Early red flag signs

Toddlers include poor response to names, poor eye contact, lack of showing and sharing, absence of gesturing by 12 months, deficit or poor quality movements, and the loss of language or social skills (Hodges, Fealko, & Soares, 2020; Parmeggiani, Corinaldesi, & Posar, 2019).

Preschooler red flags include limited pretend play, rigidity, and odd or intensely focused interests (Hodges, Fealko, & Soares, 2020).

School-age children’s red flags include concrete or literal thinking, lack of conversational skills despite interest in peers, and trouble understanding emotions (Hodges, Fealko, & Soares, 2020)Autism Spectrum Disorder Essay Paper.

Screening Tools

In toddlers –

  1. Modified Checklist for Autism in Toddlers, Revised, with Follow-up (M-CHAT-R/F)
  2. Survey of Wellbeing of Young Children (SWYC)

In school-age children –

  1. Social Communication Questionnaire (SCQ)
  2. Social Responsiveness Scale (SRS)
  3. Autism Spectrum Screening Questionnaire (ASQ) (Hodges, Fealko, & Soares, 2020).

Differential diagnoses/Comorbidities

  1. Intellectual disability (intelligence quotient less than or equal to 70)
  2. Developmental diseases
  3. Speech impairment
  4. Phobias
  5. Behavioral and psychiatric disorders include anxiety, obsessive-compulsive disorder, attention deficit hyperactivity disorder (ADHD), and mood disorders (Hodges, Fealko, & Soares, 2020).
  6. Neurological disorders such as seizures. Epilepsy is common in those with intellectual disabilities and other genetic diseases such as tuberous sclerosis complex (Hodges, Fealko, & Soares, 2020).
  7. Gastrointestinal or eating disorders include dietary restrictions, food selectivity, and overweight and obesity (Hodges, Fealko, & Soares, 2020).
  8. A sleep disorder (50% to 73% of patients with ASD) (Hodges, Fealko, & Soares, 2020)Autism Spectrum Disorder Essay Paper

Diagnostics and Labs

Currently, there are no precise ASD biomarkers or diagnostic measures. Diagnosis is based on the fulfillment of descriptive criteria outlined in DSM-5-TR. Thanks to genome-wide association studies, various gene loci have been associated with ASD, and these help with genetic testing for family planning purposes.

American College of Medical Genetics and Genomics (ACMGG) recommended genetic screening in patient’s workup for ASD, including: Autism Spectrum Disorder Essay Paper

  1. Chromosomal microarray for all children
  2. Fragile X testing in males
  3. PTEN and MECP2 gene sequencing tests.

Metabolic workup (various test combinations) is indicated in patients with somatic symptoms and signs.

Neuroimaging is not routine for ASD and only done when suspecting other diseases such as tuberous sclerosis.

Pharmacological Treatments

Serotoninergic agents – Selective Serotonin Reuptake Inhibitors such as Sertraline (SSRI) and Serotonin Norepinephrine Reuptake Inhibitors (SNRI), due to low CSF levels in children with ASD (Aishworiya et al., 2022).

Atypical antipsychotic agents – risperidone in children older than five and aripiprazole in children between 6 and 17 years (Aishworiya et al., 2022).

Alpha-2 agonists such as guanfacine, clonidine, and stimulant medication improve core symptoms of ADHD.

Melatonin to improve sleep. It is an over-the-counter (OTC) drug not regulated by Food and Drug Administration (FDA). It helps to improve the circadian rhythm, thus overcoming sleep disturbances that lead to poor quality of life (Aishworiya et al., 2022)Autism Spectrum Disorder Essay Paper.

N-acetylcysteine, another OTC drug used to improve the imbalance of excitation: inhibition (E: I) by lowering glutamatergic neurotransmission (Aishworiya et al., 2022).

Dietary supplements include sulforaphane, an antioxidant, anti-inflammatory, and mitochondrial protective agent (Aishworiya et al., 2022). It helps improve the child’s overall behavior using the Aberrant Behavior Checklist (ABC).

Non-pharmacological treatments

Behavioral interventions are the mainstay treatment for ASD, which help to address the core symptoms of ASD (Aishworiya et al., 2022). The foundation of behavioral interventions derives from the Lovaas Method of Applied Behavior Analysis, which significantly improved intelligence quotient scores and educational functioning (Aishworiya et al., 2022)Autism Spectrum Disorder Essay Paper. Two categories of behavioral interventions exist; comprehensive treatment models (CTMs) and focused interventions (Aishworiya et al., 2022). CTMS focuses on core AS symptoms and is provided using intensive and long-term multi-disciplinary strategies in naturalistic environments, while focused interventions work on one skill at a time (Aishworiya et al., 2022).

CTMs improve cognitive and functional language skills (Aishworiya et al., 2022). Examples of CTMs are Early Intensive Behavior Intervention (EIBI), Early Start Denver Model (ESDM), Treatment and education of autistic and related communication disabled children (TEACCH), and Pivotal Response Training (PRT) (Aishworiya et al., 2022). These interventions are only effective if started early and applied consistently. ESDM significantly affects IQ improvement, while EIBI is more effective in symptom reduction (Shi et al., 2021). The success of the intervention is better with parent involvement, use of higher intensity, and longer treatment hours (Shi et al., 2021). Overall, CTMs have a better long-term prognosis.

Prognosis

The prognosis of ASD is highly correlated with the IQ of the child. Low-functioning patients may require home or rehabilitative care for the rest of their lives. However, the high-functioning (high IQ) patients may live independently, hold and maintain jobs successfully, and marry and have children.

Legal and Ethical Considerations

The practitioner must follow all available guidelines or standards of care in diagnosing and managing ASD, the DSM-5-TR and institution-specific procedures, and handling pediatric patients to avoid ethical-legal considerations Autism Spectrum Disorder Essay Paper

Pertinent Patient Education Considerations

The patient education should focus on the nature of the disease, the etiopathogenesis, presentation, and management of the child, including the indication of the need for long-term follow-up. The parents should be involved in patient behavioral treatment and educated on supporting and effective care for their affected child based on their functional levels and response to treatment to avoid regression in treatment milestones.

References

Aishworiya, R., Valica, T., Hagerman, R., & Restrepo, B.  (2022). An update on psychopharmacological treatment of autism spectrum disorder. Neurotherapeutics, 19, 248-262. https://link.springer.com/article/10.1007/s13311-022-01183-1

First, M., Yousif, L., Clarke, D., Wang, P., Gogtay, N., & Appelbaum, P. (2022). DSM-5-TR: overview of what’s new and what’s changed. World Psychiatry, 21(2), 218-219. https://doi.org/10.1002/wps.20989

Hodges, H., Fealko, C., Soares, N. (2020). Autism spectrum disorder: definition, epidemiology, causes, and clinical evaluation. Translational Pediatrics, 9(Suppl 1), S55-S65. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082249/

Parmeggiani, A., Corinaldesi, A., & Posar, A. (2019). Early features of autism spectrum disorder: a cross-sectional study. Italian Journal of Pediatrics, 45(144). https://ijponline.biomedcentral.com/articles/10.1186/s13052-019-0733-8

Shi, B., Wu, W., Dai, M., Zheng, J., Luo, J., Cai, L., Wan, B., & Jing, J. (2021). Cognitive, language, and behavioral outcomes in children with autism spectrum disorders exposed to early comprehensive treatment models: A Meta-analysis and meta-regression. Frontiers in Psychiatry. https://doi.org/10.3389/fpsyt.2021.691148 Autism Spectrum Disorder Essay Paper

 Autism Spectrum Disorder 

Create a study guide for your assigned disorder. Your study guide should be in the form of an outline with references, and you should incorporate visual elements such as concept maps, charts, diagrams, images, color coding, mnemonics, and/or flashcards. Be creative! It should not be in the format of an APA paper. Your guide should be informed by the DSM-5-TR but also supported by at least three other scholarly resources.

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Areas of importance you should address, but are not limited to, are:

  • Signs and symptoms according to the DSM-5-TR
  • Differential diagnoses
  • Incidence
  • Development and course
  • Prognosis
  • Considerations related to culture, gender, age
  • Pharmacological treatments, including any side effects
  • Nonpharmacological treatments
  • Diagnostics and labs
  • Comorbidities
  • Legal and ethical considerations
  • Pertinent patient education considerations Autism Spectrum Disorder Essay Paper