INTRODUCTION

The word Autism was first used as a diagnosis in 1943, by Dr. Leo Kanner (Kanner, 1943) of Maryland’s Johns Hopkins Hospital, after studying 11 children he diagnosed to have early infantile Autism. Autism Spectrum Disorder (ASD) is a neurological and developmental disorder which affects communication and behavior. Autism can be diagnosed at any age. But still it is called a “developmental disorder” because symptoms generally appear in the first two years of life. Autism affects affects the overall cognitive, emotional, social and physical health of the affected individual.

Autism is called as a “spectrum” disorder because there is wide variation in the type and severity of symptoms people experience.

Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5)

The DSM-5 was published on 18 May 2013. autism and less severe forms of the condition, including Asperger syndrome and pervasive developmental disorder not otherwise specified (PDD-NOS), have been combined into the diagnosis of autism spectrum disorder (ASD).

Therefore, now Asperger syndrome is no longer considered a separate syndrome. Now, it is part of ASD.

A diagnosis of Autism is given when three specific areas of development are significantly affected. These three areas are known as the “triad of impairments”. They are: social development, communication and repetitious behaviors and restricted interests (American Psychological Association, 1994, World Health Organizations, 1994). 

TYPES OF ASD

Autistic Disorder

Autistic Disorder, also known as the ‘classic case of Autism.’ This is the typical case that people think of when they think of an individual with Autism. These individuals may have issues with verbal and non-verbal communication, which can cause them to either have a delay in speech, lack of facial expressions or trouble maintaining eye contact while speaking. Additionally, they may experience hypo-sensitivity to sight, sound, smell touch or taste. An individual with classic Autism may find it difficult to go through the motions of their everyday life without repetition or routine and may have a negative reaction when either of these are taken away from them. They may also have a hard time relating to society and other people, as they may not be able to empathize with other people’s emotions since they do not experience the same emotions themselves.

Asperger Syndrome

Asperger Syndrome is a form of Autism that presents challenges socially and in the individuals’ behavior or interests. They may have milder symptoms than those with classic Autistic Disorder but have their own trials and tribulations in their daily life. Someone that has Asperger Syndrome may act inappropriately in social situations, coming across as awkward or rude. They may feel more comfortable speaking about themselves, rather than focusing on someone they are socializing with, which makes them appear to be unempathetic and selfish. An individual with Asperger Syndrome may also have trouble expressing themselves nonverbally, which can cause them to not know how to have appropriate facial expressions, gestures or body language.

Childhood Disintegrative Disorder – children with this type of autism can seem perfectly fine in their first two years of life – developing normally, meeting all their milestones – but start regressing suddenly. CDD can be particularly tough and confusing for parents because one day your child is showing no signs of developmental delays, and suddenly they stop talking and interacting. This was the rarest and most severe part of the spectrum. It described children who develop normally and then quickly lose many social, language, and mental skills, usually between ages 2 and 4. Often, these children also developed a seizure disorder.

Pervasive Developmental Disorder

Pervasive Developmental Disorder- Not Otherwise Specified (PDD-NOS) is best described as individuals that do not fit into either the Autistic Disorder or the Asperger Syndrome categories. This person may have some mild symptoms from both types of Autism, but present other high functioning characteristics as well. These individuals can be in one of three categories: high-functioning, symptoms close to Autistic Disorder but not quite fully meeting its symptoms and the third group which is that the individual does meet all of the requirements to be in the Autistic Disorder group but have very mild behavior symptoms. This specific category is relatively new, as it has been categorized as a part of the Autism spectrum only in the past 15 years.

"Pervasive Developmental Disorder Not Otherwise Specified" is a mouthful of words that, until 2013, were used to describe individuals who didn't fully fit the criteria for other specific diagnoses but are nevertheless autistic. Because there is no easy way to define the symptoms of PDD-NOS, which may range from very mild to very severe, the diagnostic category no longer exists.

Rett Syndrome - this progressive disorder begins with similar characteristics that are found in other forms of autism, like repetitive arm and hand waving, issues with fine and gross motor skills, and delayed speech. This type of autism only affects girls and can be apparent when they reach 6 months old. Symptoms like difficulty breathing, grinding teeth, growth delays, seizures, and mental retardation can increase in severity as the child gets older. Rett syndrome is a genetic disorder that primarily affects girls.4 It is the only one of the former autism spectrum disorders that can be diagnosed medically (so far); as of May 2013, it is no longer included in the Autism Spectrum. Girls with Rett syndrome develop severe symptoms including the hallmark social communication challenges of autism. In addition, Rett syndrome can profoundly impair girls' ability to use their hands usefully.

An individual with Autism Spectrum Disorder will face several struggles throughout their life, including social behavior and traits, motor functions and their overall behavior patterns. An individual that is on the Autism spectrum may experience the following difficulties and struggles through out their life.

CAUSES

The exact cause of Autism Spectrum Disorder is so far unknown. There is no one single cause. However, following aspects may increase the risk:

1.    Family history

2.    Genetic mutations

3.    Fragile X syndrome and other genetic disorders

4.    Being born to older parents

5.    Low birth weight

6.    Metabolic imbalances

7.    Exposure to heavy metals and environmental toxins

8.    Fetal exposure to the medications valproic acid (Depakene) or thalidomide (Thalomid)

COMMON SYMPTOMS

The early signs of autism can be observed during the first three years of a child's life. These signs may vary from being mild, moderate, to severe. Also, the signs may vary from one child to another, and may change as the child grows. A child with severe cognitive impairment and motor skills may also develop epilepsy. However, a specific set of behaviors are indicators of the condition.

Note: Lack of autism awareness delays the parents' ability to identify symptoms at an early stage.

The following traits can be observed in a child during the physiological and psychological developmental phase.

Conditions that co-exist with autism: Other conditions like mental retardation, hyperactivity, motor difficulties, seizures, learning disability, hearing or visual impairment may co-exist with autism.

Children with autism may have some of these difficulties:

Communication:

·       Have significant difficulties in forming meaningful sentences even when they have extensive vocabularies

·       May repeat words or phrases they hear 

·       May repeat actions again and again

·       May use sign language while speaking

·       May or may not learn language for communication

·       Inability to explain their needs, feelings and emotions

·       Inability to interpret conversation, voice, facial expressions, body language

·       Inability to have eye contact when someone is speaking

Social interaction:

·       As infants, they may not smile or display any anticipatory posture for being picked up as an adult approaches. 

·       Difficulty in learning social skills or interacting with people

·       May not prefer to make friends and instead plays alone.

·       Avoids eye contact

·       Inability to understand feelings or emotions of others around them, due to which they may not reciprocate with appropriate response.

·       Trouble adatpting to routine changes

·       May respond differently to the way things smell, taste, look, feel, or sound

Sensory:

·       Difficulty in hearing

·       Sensitive to touch, sound, light, color, taste, smell

·       May be sensitive to certain types of food

·       May be uncomfortable with touch or physical contact

Restrictive / repetitive behaviors may include:

·       Difficulty in following instructions or directions

·       Shows unusual attachment to toys, objects, unusual interest in specific activities, obsessed about a specific activity

·       Activities and play are generally rigid, repetitive, and monotonous

·       Not afraid of real danger, but fearful of harmless objects

·       Sudden mood changes: bursts of laughing or crying without obvious reason. Hyperkinesis (excessive abnormal movements due to increase in muscular activity) is a common behavior problem in a child with autism, and it may alternate with hyperactivity.

·       Aggression and temper tantrum are observed, prompted mostly by change and demands.

·       Short attention span, poor ability to focus on a task

·       Feeding and eating problems

·       People with ASD may also experience sleep problems and irritability.

RISK FACTORS

While scientists don’t know the exact causes of ASD, research suggests that genes can act together with influences from the environment to affect development in ways that lead to ASD. Although scientists are still trying to understand why some people develop ASD and others don’t, some risk factors include:

·       Having a sibling with ASD

·       Having older parents

·       Having certain genetic conditions—people with conditions such as Down syndrome, fragile X syndrome, and Rett syndrome are more likely than others to have ASD

·       Very low birth weight

DIAGNOSIS

There is no single medical test for diagnosing autism but a set of specific evaluations and assessments to confirm the condition. Some of the assessments include:

·       Physical and nervous system (neurological) test

·       Autism Diagnostic Interview - Revised (ADI-R)

·       Autism Diagnostic Observation Schedule (ADOS)

·       Childhood Autism Rating Scale (CARS)

·       Gilliam Autism Rating Scale

·       Pervasive Developmental Disorders Screening Test

·       Genetic testing to check for chromosomal abnormalities

·       Tests on communication, language, speech, motor skills, academic performance and progress, cognition skills

DIAGNOSTIC CRITERIA FOR AUTISM SPECTRUM DISORDER- DSM 5

A. Persistent deficits in social communication and social interaction across multiple contexts, as manifested by the following, currently or by history (examples are illustrative, not exhaustive; see text):

1. Deficits in social-emotional reciprocity, ranging, for example, from abnormal social approach and failure of normal back-and-forth conversation; to reduced sharing of interests, emotions, or affect; to failure to initiate or respond to social interactions.

2. Deficits in nonverbal communicative behaviors used for social interaction, ranging, for example, from poorly integrated verbal and nonverbal communication; to abnormalities in eye contact and body language or deficits in understanding and use of gestures; to a total lack of facial expressions and nonverbal communication.

3. Deficits in developing, maintaining, and understanding relationships, ranging, for example, from difficulties adjusting behavior to suit various social contexts; to difficulties in sharing imaginative play or in making friends; to absence of interest in peers.

B. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following, currently or by history (examples are illustrative, not exhaustive; see text):

1. Stereotyped or repetitive motor movements, use of objects, or speech (e.g., simple motor stereotypes, lining up toys or flipping objects, echolalia, idiosyncratic phrases).

2. Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior (e.g., extreme distress at small changes, difficulties with transitions, rigid thinking patterns, greeting rituals, need to take same route or eat same food every day).

3. Highly restricted, fixated interests that are abnormal in intensity or focus (e.g., strong attachment to or preoccupation with unusual objects, excessively circumscribed or perseverative interests).

4. Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment (e.g., apparent indifference to pain/temperature, adverse response to specific sounds or textures, excessive smelling or touching of objects, visual fascination with lights or movement).

C. Symptoms must be present in the early developmental period (but may not become fully manifest until social demands exceed limited capacities, or may be masked by learned strategies in later life).

D. Symptoms cause clinically significant impairment in social, occupational, or other important areas of current functioning.

E. These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay. Intellectual disability and autism spectrum disorder frequently co-occur; to make comorbid diagnoses of autism spectrum disorder and intellectual disability, social communication should be below that expected for general developmental level.

Specify current severity:

Severity is based on social communication impairments and restricted, repetitive patterns of behavior.

SEVERITY LEVELS FOR AUTISM SPECTRUM DISORDER

Level 1 "Requiring support”

Social communication

Without supports in place, deficits in social communication cause noticeable impairments. Difficulty initiating social interactions, and clear examples of atypical or unsuccessful response to social overtures of others. May appear to have decreased interest in social interactions. For example, a person who is able to speak in full sentences and engages in communication but whose to- and-fro conversation with others fails, and whose attempts to make friends are odd and typically unsuccessful.

Restricted, repetitive behaviors

Inflexibility of behavior causes significant interference with functioning in one or more contexts. Difficulty switching between activities. Problems of organization and planning hamper inde

Level 2 "Requiring substantial support”

Social communication

Marked deficits in verbal and nonverbal social communication skills; social impairments apparent even with supports in place; limited initiation of social interactions; and reduced or  abnormal responses to social overtures from others. For example, a person who speaks simple sentences, whose interaction is limited  to narrow special interests, and how has markedly odd nonverbal communication.

Restricted, repetitive behaviors

Inflexibility of behavior, difficulty coping with change, or other restricted/repetitive behaviors appear frequently enough to be obvious to the casual observer and interfere with functioning in  a variety of contexts. Distress and/or difficulty changing focus or action.

Level 3 "Requiring very substantial support”

Social communication

Severe deficits in verbal and nonverbal social communication skills cause severe impairments in functioning, very limited initiation of social interactions, and minimal response to social overtures from others. For example, a person with few words of intelligible speech who rarely initiates interaction and, when he or she does, makes unusual approaches to meet needs only and responds to only very direct social approaches

Restricted, repetitive behaviors

Inflexibility of behavior, extreme difficulty coping with change, or other restricted/repetitive behaviors markedly interfere with functioning in all spheres. Great distress/difficulty changing focus or action.

Note: Individuals with a well-established DSM-IV diagnosis of autistic disorder, Asperger’s disorder, or pervasive developmental disorder not otherwise specified should be given the diagnosis of autism spectrum disorder. Individuals who have marked deficits in social communication, but whose symptoms do not otherwise meet criteria for autism spectrum disorder, should be evaluated for social (pragmatic) communication disorder.

Specify if:

·       With or without accompanying intellectual impairmentWith or without accompanying language impairment

·       Associated with a known medical or genetic condition or environmental factor

·       (Coding note: Use additional code to identify the associated medical or genetic condition.)

·       Associated with another neurodevelopmental, mental, or behavioral disorder

·       (Coding note: Use additional code[s] to identify the associated neurodevelopmental, mental, or behavioral disorder[s].

·       With catatonia (refer to the criteria for catatonia associated with another mental disorder)

·       (Coding note: Use additional code 293.89 catatonia associated with autism spectrum disorder to indicate the presence of the comorbid catatonia.)

SOCIAL (PRAGMATIC) COMMUNICATION DISORDER

Social (Pragmatic) Communication Disorder (SCD) is a diagnosis characterized by impairment in communication for social purposes. This diagnosis is given when an individual has difficulty using verbal and/or nonverbal communication that is appropriate for the social context. Individuals with this disorder may present with difficulties across a number of areas of social communication including:

·         Social greetings, such as saying hello or introducing oneself

·         Sharing personal information and general knowledge

·         Modifying communication based on characteristics of the listener; for example, understanding that one interacts differently with a young child versus an adult, and differently with a close friend versus an acquaintance

·         Taking turns in conversation, which includes difficulty responding to others in conversation, staying on topic, or allowing the other person an opportunity to speak

·         Changing communication to match the behavior of the listener or the context of the situation

·         Using gestures in conversation, such as pointing or waving

·         Understanding various forms of nonverbal communication

·         Understanding aspects of verbal communication that are not explicitly stated; for example, difficulty understanding implied and indirect uses of language, such as metaphors and humor

These challenges lead to impairment across a number of areas. In addition to having challenges connecting and interacting with peers, these symptoms often cause challenges in educational and occupational functioning.

Social Communication Disorder (SCD) was introduced to the Diagnostic and Statistical Manual of Mental Disorders (DSM) for the first time in the most recent update (DSM-5) in 2013. Prior to this time, individuals who demonstrated these symptoms may not have been accurately diagnosed or identified. Before the introduction of SCD into the DSM-5 some of the individuals who currently meet diagnostic criteria for this disorder may have been classified as having Pervasive Developmental Disorder – Not Otherwise Specified or Communication Disorder – Not Otherwise Specified.

DIFFERENCE BETWEEN SOCIAL COMMUNICATION DISORDER AND AUTISM

Both Autism Spectrum Disorder (ASD) and Social Communication Disorder (SCD) are characterized by challenges in verbal and/or nonverbal communication for social purposes. However, there are a number of differences between these diagnoses. Individuals with ASD also demonstrate restricted, repetitive patterns of interests or behaviors. This can include highly fixated interests, stereotyped or repetitive motor movements, inflexible adherence to routines, and sensory sensitivities. If an individual is demonstrating these symptoms in addition to challenges with social communication, they would likely be diagnosed with ASD and not with SCD.

TREATMENTS

There are many types of treatments available. These include applied behavior analysis, social skills training, occupational therapy, physical therapy, sensory integration therapy, and the use of assistive technology.

The types of treatments generally can be broken down into the following categories:

Behavior and Communication Approaches

According to reports by the American Academy of Pediatrics and the National Research Council, behavior and communication approaches that help children with ASD are those that provide structure, direction, and organization for the child in addition to family participation [10].

Applied Behavior Analysis (ABA)
A notable treatment approach for people with ASD is called applied behavior analysis (ABA). ABA has become widely accepted among healthcare professionals and used in many schools and treatment clinics. ABA encourages positive behaviors and discourages negative behaviors to improve a variety of skills. The child’s progress is tracked and measured.

There are different types of ABA. Here are some examples:

This is a type of ABA for children with ASD between the ages of 12-48 months. Through ESDM, parents and therapists use play and joint activities to help children advance their social, language, and cognitive skills.

There are other therapies that can be part of a complete treatment program for a child with ASD:

Assistive Technology
Assistive technology, including devices such as communication boards and electronic tablets, can help people with ASD communicate and interact with others. For example, the Picture Exchange Communication System (PECS) uses picture symbols to teach communication skills. The person is taught to use picture symbols to ask and answer questions and have a conversation. Other individuals may use a tablet as a speech-generating or communication device.

Developmental, Individual Differences, Relationship-Based Approach (also called “Floortime”)
Floortime focuses on emotional and relational development (feelings and relationships with caregivers). It also focuses on how the child deals with sights, sounds, and smells.

Treatment and Education of Autistic and related Communication-handicapped CHildren (TEACCH)

TEACCH uses visual cues to teach skills. For example, picture cards can help teach a child how to get dressed by breaking information down into small steps.

Occupational Therapy
Occupational therapy teaches skills that help the person live as independently as possible. Skills may include dressing, eating, bathing, and relating to people.

Social Skills Training
Social skills training teaches children the skills they need to interact with others, including conversation and problem-solving skills.

Speech Therapy
Speech therapy helps to improve the person’s communication skills. Some people are able to learn verbal communication skills. For others, using gestures or picture boards is more realistic.

Dietary Approaches

Some dietary treatments have been developed to address ASD symptoms. However, a 2017 systematic review of 19 randomized control trials found little evidence to support the use of dietary treatments for children with ASD [11].

Some biomedical interventions call for changes in diet. Such changes can include removing certain foods from a child’s diet and using vitamin or mineral supplements. Dietary treatments are based on the idea that food allergies or lack of vitamins and minerals cause symptoms of ASD. Some parents feel that dietary changes make a difference in how their child acts or feels.

If you are thinking about changing your child’s diet, talk to the doctor first or with a registered dietitian to be sure your child’s diet includes the necessary vitamins and minerals for their growth and development.

Medication

There are no medications that can cure ASD or treat the core symptoms. However, there are medications that can help some people with ASD function better. For example, medication might help manage high energy levels, inability to focus, anxiety and depression, behavioral reactivity, self-injury, or seizures.

Medications might not affect all children in the same way. It is important to work with a healthcare professional who has experience in treating children with ASD. Parents and healthcare professionals must closely monitor a child’s progress and reactions while he or she is taking a medication to be sure that any negative side effects of the treatment do not outweigh the benefits.