AUTISM SPECTRUM
DISORDER
ABSTRACT
Autism spectrumdisorder is a complex brain conditioncharacterized by difficulties in social interaction and communication, as well as a tendency toward repetitive behaviors. In its mildest form, autism spectrum disorder can present minor communication challenges in children who are at or above normal intelligence. In its most severe form, comprehensive cognitive deficits and a total lack of communication create permanent dependence. Currently, there is no cure for autism and the focus is on research to develop effective management and prevention strategies.
Statement of Learning Need
Autism treatment teams are involved in the diagnosis and ongoing health care of the individual child or adult with ASD as well as their families. Clinicians in mental health and school programs are required to performinitial and ongoing evaluations and to develop a treatment plan to promote improved coping skills and development for individuals with autism.
Course Purpose
To provide advanced learning for clinicians interested in the diagnosis and ongoing treatment of individuals with autism, including education and
Introduction
The diagnosis of Autism Spectrum Disorder (ASD) encompasses a group of developmental disorders with symptoms that range on a continuum from mild to severe.1ASD is typically present early in life, from infancy or early childhood, however, deficits from ASD may not be detected until later on, possibly due to parental or caregiver assistance and limitations placed on social exposure involving the autistic individual. The onset of ASD has been intensively studiedand it is widely accepted that the diagnosis of ASD may occur far after the age of onset.2-3From the time when a parent indicatestheir child has early signs or symptoms of ASD or abnormal development untilwhen diagnosis is made may be quite lengthy.
Detecting early signs of ASD is often difficult4with diagnosisoccurring only after a child is placed insituationswhere social awkwardness or deficits can be noticed. Autism may keep a child from forming effective relationships with other people, due in part to an inability to properly interpret facial expressions or emotions. Children with autism may be resistant to cuddling or change, and they may play alone or have delays in speech development. People with autism also frequently repeat body movements or have extreme attachments to certain objects. However, there are positive aspects to autism, such as the fact that many people with autism excel on certain mental levels, such as counting and measuring, or at art, music, or memory.
The precise causes of ASD are not known. However, it is known that genetic factors play a role in ASD.5,6 It is also known that non-genetic, environmental factors play a role in the development of ASD. It is thought that ASD is the result of a combination of genetic and non-genetic factors. What basically happens is that non-genetic, environmental factors come into play to make those who are genetically susceptible to ASD more likely to develop ASD.
Autism spectrum disorder may develop gradually, or the individual may experience what is known as regression, where he or she may lose some or all of their acquired skills. The loss of skills can happen suddenly or gradually. Overall, there are a number of risk factors for ASD, including gender (boys are more likely than girls to develop ASD) and genetics, including certain prenatal and perinatal factors, neuroanatomical abnormalities such as enlargement of the brain, and environmental factors.
There is no cure for ASD. The primary goals of ASD treatments are to lessen deficits and to lessen family stresses. There are a number of ways to do these things, including applied behavioral therapy, structured teaching, speech and language therapy, social skills therapy, occupational therapy, and the use of medication. Additionally, educating parents, caregivers, and siblings and providing these individuals with ways to cope and to face the unique challenges that having an individual with ASD in the household brings helps to alleviate the inevitable resulting family stress.
Disorders Included In The Autism Spectrum: DSM-5
The American Psychiatric Association has put forth a definition for autism as a part of the revisions made for the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-5). Autism is seen as part of a continuum of disorders termedautism spectrum disorder, involving a range ofdisorders, such as autistic disorder, Asperger’s syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. It has been proposed that the DSM-5 criteria will lead to more accurate diagnosis to support clinicians in the development of treatment planning.7
Autistic disorder is also known as autism or mindblindness. This disorder generally presents sometime in the first three years of life, and the child appears to live within his or her own world. The child also appears to show little interest in other people and displays poor social skills. The focus of a child with autistic disorder is on a consistent routine, with repetitive odd or peculiar behaviors. Children with autism frequently have problems communicating, and they often will avoid making eye contact with others or will avoid attaching to others. Additionally, autistic disorder may be associated with a number of infirmities, including difficulties with motor coordination and attention, intellectual disability, and physical health issues such as gastrointestinal issues or sleep issues. However, despite difficulties, some people with autistic disorder often excel in music, art, math, or with visual skills.
Autistic disorder seems to have roots in the early development of the brain, although the most obvious signs and symptoms emerge between 2 – 3 years of age. Approximately 1 out of every 88 children in the United States will have an ASD; this is a huge increase in prevalence over the past 40 years. The increase is due in part to improvements made in diagnostic tools as well as disease awareness. Another reason for the increase may be environmental influence. Autistic disorder is much more common in boys than it is in girls; approximately 1 out of every 54 boys and 1 out of every 252 girls is diagnosed with an ASD in the U.S. with ASD affecting over 2 million individuals in the U.S., and millions are affected worldwide.7
There is no one cause for ASD, although a genetic predisposition appears to play a role, as do environmental, or non-genetic, factors. Most cases of ASD appear to be the result of a combination of both genetic and non-genetic factors, with environmental stressors increasing the risk of development of ASD in children who already have a genetic predisposition. The clearest evidence of these types of risk factors includes events that happen before or during birth, such as maternal illness or birthing difficulties.
Asperger Syndrome
Asperger Syndrome is considered a subtype of autism spectrum disorder. The cause of Asperger Syndrome is unknown, and presents 4 times more frequently in boys than it does in girls.8Many consider Asperger syndrome to be the mildest form of autism; therefore, many with Asperger’s are considered to be the highest functioning autistic individuals. However, even though many individuals with Asperger’s may be high functioning, they still share certain key symptoms with others who suffer from autism spectrum disorders, such as a lack of normal social conversation, lack of normal eye contact, deficits in body language and facial expression, and difficulties in maintaining social relationships. Those with Asperger syndrome also frequently engage in repetitive behaviors and may become excessively attached to objects or routines.
The prevalence of Asperger syndrome is not well known. It is not even well recognized prior to the age of 5 or 6, primarily because the individual has normal language development. Asperger syndrome occurs in all ethnic groups and affects every age group.8Additionally, it does not just affect the child during childhood; studies indicate that children who suffer from Asperger syndrome carry their problems with them into adulthood and some develop further psychiatric problems in adulthood.
Some of the common signs or symptoms of those with Asperger syndrome are having monotone speech or lack of rhythm in speaking. Additionally, an individual with Asperger syndrome may have problems modulating the volume in his or her voice and may need to be continually reminded to talk more softly. Individuals with Asperger’s are not generally isolated from the rest of the world as a result of their own withdrawal, but rather they are isolated because they have poor social skills or because their interests are narrow. For example, they may approach conversations by speaking only about their own very narrow interests, making a normal conversation difficult.
Current researchindicates that brain abnormalities may be to blame, as some research has indicated that those children who have Asperger syndrome have differences in structure and function than do those children who are not affected.8 Researchers posit that these differences could be caused by an abnormal migration of embryonic cells that in turn affects brain structure in early childhood. This then goes on to affect the brain circuitry that affects thought and behavior.
Scientists have also suspected that there is a strong genetic component to Asperger syndrome, although no specific gene for Asperger syndrome has ever been identified. Recent research has indicated that Asperger syndrome is most likely the result of a grouping of genes in which variations or deletions cause the individual to become vulnerable to the development of Asperger syndrome. When combined with environmental factors, this also determines the severity and the specific symptoms that each individual suffers.
Pervasive Developmental Disorder Not Otherwise Specified
Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS) is sometimes simply called pervasive developmental disorder, or may be used interchangeably with autism spectrum disorder.9There are some health professionals who refer to PDD-NOS as sub-threshold autism. PDD-NOS is a relatively new diagnosis, having been around for approximately20 years. PDD-NOS is the diagnosis that has come to be commonly applied to those who are on the autism spectrum but do not generally meet the criteria for some other autism spectrum disorder in full, such as Asperger Syndrome.
Defining features of PDD-NOS are challenges in language development and social functioning. Repetitive behaviors are frequently seen with PDD-NOS. Not all children with PDD-NOS have the same symptoms. Symptoms may sometimes be mild, where the individual exhibits only a few symptoms while at home or at school. Other individuals may exhibit severe symptoms in all areas of their lives but still may not qualify for a diagnosis of autistic disorder. The signs and symptoms of PDD-NOS are divided into several categories, as outlined in the section below.
Social Signs and Symptoms
Children with PDD-NOS have a desire to make and have friends, but they have no idea how to make that happen. If there are language delays this may hinder the ability to socialize with other people. There is frequently difficulty in understanding body language, tone of voice, and facial expression in others, as well as difficulty understanding emotions. Children with PDD-NOS often have trouble distinguishing between emotions such as sadness, happiness and anger.
Communication Signs and Symptoms
Those with PDD-NOS frequently have language or communication issues. Infants with PDD-NOS may not babble as normally occurs in babies. They also frequently take language literally and do not have an understanding of things such as sarcasm or joking language. It is easier to expand language skills in those children who have some language skills than it is in those children who are entirely nonverbal.
Behavioral Signs and Symptoms
Children with PDD-NOS may exhibit tantrums or emotional outbursts. These children may also have a great need for routine. Additionally, individuals with PDD-NOS can often misinterpret what is happening in a situation and in turn become easily frustrated. Tantrums are the result of fear and anxiety. Another common behavioral symptom is perseveration, which means the child will tend to dwell on certain events or subjects. Individuals with PDD-NOS may become fixated on one topic or play only with one toy that is associated with a particular area.
Given the newness of this diagnosis, there has been some disagreement on how to apply a diagnosis of PDD-NOS. Recently, some studieshave suggested that PDD-NOS may best be utilized by placing individuals into one of three subgroupings of diagnosis, as highlighted below.10,11
High function PDD-NOS
High functioning PDD-NOS involves approximately 25% of those with PDD-NOS; and, these individuals generally have symptoms that overlap Asperger’s, but they may differ slightly in that they have delays in language development or slight cognitive impairment.
Mid-function PDD-NOS
Mid-function PDD-NOS involves approximately 25% of those with PDD-NOS; and, these individuals generally have symptoms that resemble those with autistic disorder.
Low function PDD-NOS
Low-function PDD-NOS involves approximately 50% of those with PDD-NOS; and, these individuals meet all of the criteria for autistic disorder, however, some of their symptoms are noticeably mild.Another way to diagnose PDD-NOS may be by placing individuals into one of five subgroupings, which are listed as follows.
Atypical Autism
Atypical autism is a category relative to young children who may not have developed a full-blown autistic disorder yet; these are individuals who almost, but not quite, meet the criteria for autistic disorder.
Residual Autism
Residual autism is a category that includes individuals who have a history of having autistic disorder yet may not at present meet the criteria. These individuals still have some autistic features but as a result of interventions or development they do not meet the criteria for autistic disorder.
Atypical Asperger Syndrome
Atypical Asperger Syndrome includes young children who may not have developed full-blown Asperger syndrome as well as for individuals who are almost, but not quite, to the point of meeting the full criteria for Asperger syndrome.
Mixed Clinical Features of Atypical Asperger Syndrome
Mixed clinical features of atypical Asperger syndrome is a category for children with an atypical autistic disorder.
Comorbid Autism
Combined autism includes children who have a medical or neurological disorder, such as tuberous sclerosis, that is associated with some ASD-like features.
Those who have PDD-NOS respond best to combined therapies. Therapies that have been demonstrated to work well on PDD-NOS are applied behavioral analysis (ABA), sensory integration therapy, play therapy, and social skills training. It is important for the clinician to pay attention to the child who may not be as easily diagnosed.The Yale Developmental Disabilities Clinic has indicated that children who have PDD-NOS may not get the treatment they need as easily as do those diagnosed with autistic disorder. Additionally, many education systems in the U.S. do not have a special education category for those individuals who have PDD-NOS, leaving these individuals to be placed into programs designed for students with other problems, such as intellectual disabilities, emotional disturbances, or behavior disorders. This can lead to the individual getting lost in the crowd and not having their needs met. It is therefore essential that the clinician work closely with parents and caregivers to ensure that the individual with PDD-NOS is getting his or her needs met in all areas.11
Childhood Disintegrative Disorder
Childhood disintegrative disorder (CDD), also called Heller’s syndrome, is a condition wherein children develop normally until approximately age 3 or 4. They then lose all of the skills they have learned. This includes motor, language, social, and other skills. To be diagnosed with CDD the childmust lack or lose normal function in at least two developmental skillareas that include social interaction, communication, and repetitive or stereotyped patterns of interest and behavior or activities. CDD may be caught at developmental screenings performed at well-child check-ups; these screenings should always be performed, although parents should also be encouraged to voice concerns about their child’s development at other times as well. The cause of CDD is not known, but a link to the brain and nervous system has been made.12
Symptoms of CDD include a delay or lack of language, impaired nonverbal behavior, an inability to start or to maintain conversation, failure to play, loss of control of the bladder or bowels, loss of previously established language or communication skills, loss of motor skills; and, problems forming relationships with others have been identified. The loss of skills may occur abruptly or it may occur over a period of time that is extended. Parents should express concerns to a clinician when a child loses any developmental skill, whether it is gradual or sudden loss.