Terminology of Autism Spectrum Disorders (ASDs)

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For many years when people spoke about autism they talked about a group of disorders called Pervasive Developmental Disorders.  This category of disorders included Autism, Asperger Syndrome, Childhood Disintegrative Disorder, Rett Syndrome and Pervasive Developmental Disorders (Not Otherwise Specified). These are the categories discussed in the Diagnostic Statistical Manual of Mental Disorders,  Fourth Edition (Text Revision) DSM-IV-TR.  This manual is presently being rewritten and a Fifth Edition is to be published in the near future. Categories and names are certain to change, but, the underlying disorders will not. A new emphasis on the spectrum of presentation will likely be the focus. Underlying disorders that have autistic like features will be excluded and a new attention will be placed on children with social communication disorders.

The purpose of any diagnostic categorization is to facilitate treatment and understanding. Those writing and formulating the new edition are pursuing this goal.  The intent is to allow each child with a spectrum disorder to be better understood and enhance our understanding of their developmental trajectory.

No matter what the new categories are underlying patterns seen in children with autism spectrum disorders (ASDs) will not change. These patterns fall into three basic categories. The first concerns social reciprocity and their ability to recognize, perceive and decipher the intent, purpose and meaning of others. The second issue concerns central coherence. Children with ASDs frequently are overfocused and fixated on various patterns of behaviors or responses. They lack the volume of qualitative responses that most children express when they are put in a new situation. They tend to see the “forest and not the trees”.  They often miss the “big picture” and have difficulty with concept generalization where they are unable to abstract their responses from one situation to another. the third and final area concerns executive function and a pattern of special interests, behaviors or activities. Many issues including auditory processing difficulty and unmodulated or over modulated selective, shifting and sustained attention abnormalities are seen.

Children with ASDs are no different than any other child. Certainly, our challenge to understand and respond to their feelings, thoughts words and actions is much higher; but, with new understanding generated by recent neuroscience and genomic discoveries we are continuing to open the door to the best treatments of children with ASDs. As a parent or someone who knows or loves a child with an ASD the future is resoundingly bright as the drapes that previously obscured our view and understanding are released and collapse to the floor.

The First Signs

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Many new parents ask what are the first signs to look for to determine if their
child could have an Autism Spectrum Disorder (ASD)?  There is no one answer to
this question since presentations vary.  A close relationship with your
pediatrician and participation in appropriate developmental surveillance are the
most important ways to assure an early diagnosis is made. You and your
pediatrician are in the perfect vantage point to collaborate in the early
diagnosis. There have been numerous published reports about the early signs of
autism. The key is for both of you to take the time to look for the signs of
autism, know what these signs are and have a strategy to systematically evaluate
the developmental trajectory of your child. This, however, is the easy part. The
hard part is being aware of available regional community, educational and
medical resources and then collaborating with your pediatrician to pursue and
obtaining the services you and your child require.

Key signs relate to atypical language development and social deficits that include delayed or absent joint attention (JA). These children appear to lack connectedness. They are often content being alone and show decreased eye contact. They initiate and
maintain social contact with gestures, vocalization and eye contact less than
expected for age and have difficulty sharing emotional contact with others in
play or group activities. Joint attention delays are frequently seen in infants
less than one year of age who do not show enjoyment from looking back and forth
in a sharing fashion between a person and a joint object of interest. By age one
year most children with prompts will look in the direction that their parent
points and will then look back to the parent with a shared expression. By 15
months most children will point to request a desired object and soon thereafter
will point to share a joint object of interest. While pointing the child will
look back and forth between the object of interest and the parent showing a
shared social experience. This sharing is often absent in children with ASD. The
absence of joint attention effects language development and the “showing” of
positive affect  and social connectedness.

Orienting to one’s name being called is often deficient in children with ASDs as well as children with decreased hearing. Hearing assessment is essential in any child felt to have an ASD. As a child with ASD enters the preschool years he is less likely to develop age appropriate peer interactions and any shared interests usually center on a
limited set of interests that revolve about his own special interests. They
often have difficulty understanding the perspective of others and  difficulty
understanding the context of situations and events. This inability to understand
the big picture makes social interactions difficult. The ability to recognize
the mental state of others by late preschool years is also lacking and leads to
difficulty with empathy, sharing and comforting.

Helpful Facts About ASDs

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Parents all ask how common are Autism Spectrum Disorders (ASDs) and why are they
being diagnosed so often. Frequency information about prevalence is difficult to
discuss due to changing criteria and diagnostic categories. The most recent
numbers from the Center for Disease Control states a prevalence of 1:140 for
girls and 1/70 for boys. Prevalence rates have increased as subthreshold
criteria for inclusion have been promoted. The inclusion of milder cases has
been criticized for being too inclusive and leading to over diagnosis. Although
this is clearly important, there are other numerous factors including general
public awareness and diagnostic substitution where a child with a prior
diagnosis is rediagnosed as having an ASD.

The term idiopathic ASD is used for children who meet criteria for an ASD but do not have an associated medical condition known to cause ASD’s. The term secondary ASD refers to cases with an identifiable syndrome or medical disorder. Some of these conditions include the following: Fragile X syndrome, Neurocutaneous disorders,
Phenylketonuria (PKU), Fetal alcohol syndrome, Angelman syndrome and Rett
syndrome.

ASDs are biologically based and highly heritable. It has been very difficult to determine causation due to genetic complexity and the large variability of presentation. It is likely that multiple genes are involved and it is unclear whether other genetic and environmental influences play a role. Such environmental factors may represent an intrauterine stressor that effects fetal brain development.

Numerous factors have been determined that effect prevalence. these include a prior sib having been diagnosed as having an ASD and advanced parental age. It is clear the etiology is multifactorial with a variety of genetic and environmental factors playing a role.

ASDs are much more common in boys than girls. Male to female ratios ranging from 2:1 to 6:1 have been cited. The ratios are even higher if only cases of high
functioning autism and Asperger Syndrome are included. The reason for this male
predominance is not known.

The risk of postnatal factors including immunizations have been the focus of many public discussions. Studies have consistently supported the lack of association between thimerosal containing vaccines and ASDs. Yet, due to publicity and fear many parents continue to feel their child’s ASD was caused by vaccine exposure and many parents continue to avoid and refuse vaccines due to fear of their child developing an ASD.

Brain changes found in those with autism suggest pathology arising
during the pregnancy. Studies have also shown brain volume changes as well as
brain structure variability.  Functional MRI studies suggest processing
differences including differences in gaze fixation, facial recognition and
variable deficits in imitation, empathy and language.

Communication Patterns

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Speech delay is often the presenting complaint for children who are diagnosed as
having an autism spectrum disorder (ASD). Babbling may be late in developing as
are pre-speech gestures including waving, pointing and showing.

The lack of a desire to communicate and the lack of non-verbal communication strategies including gestures usually accompany the speech delay. These children frequently do not show frustration due to their speech delay. In addition, the quality of
speech may be concrete, rigid and even scripted. They may memorize dialog from
movies or television shows and the repetition of another’s words, called
echolalia, is often seen.

Children with ASDs may appear independent due to their lack of communication interest. They often seek out an object of interest rather than using language to acquire the object. Some children may also show advanced skills in specific language areas including the labeling of colors, shapes, numbers and even letters of the alphabet. Associated with this advanced skill is a relative lack of the incorporation of these same skills into functional language.

Some children with ASDs may also use pop up words that are said without a clear provocation. They may be said frequently for a period of time and then stop as suddenly as they started only to return in the future. They are said out of context and often occur during stressful situations.

Children with ASDs often lack warm expressions during communication  and lack an alternating communication pattern that is usually seen between mother and child by 6 months of age. Infants with ASDs will often vocalize without regard to a parents gaze or speech and may not preferentially recognize a parent’s voice. They often disregard vocalizations but appear to be extremely aware of environmental sounds that other children miss. Other patterns include a lack of expressive language and deficits in higher level semantic and pragmatic language skills that indicate a social use of language. Children with ASDs may have difficulty differentiating between the various ways specific phrases can be said to indicate different emotional meanings.

Regression is a common language pattern Children with ASDs often say a few words and then stop speaking. This is often seen between 18 and 24 months of age.  This
communication regression also may include a loss of gestural communication
including pointing and waving and  social skills such as eye contact and
response to praise. This regression may be sudden or gradual and may be confused
with other environmental or developmental factors. The presence of language
regression is a key hallmark of ASDs.

Children with Asperger Syndrome may have limited or minimal speech delay. This makes  diagnosis difficult and often delays the diagnosis. Although the quantity of speech may be near normal the quality is abnormal.  They may show an interest in discussing specific topics of personal interest yet have difficulty expressing simple feelings or recognizing the feelings and viewpoints of others. Speech patterns may be overly formal and lack a reciprocal quality. Conversations are difficult to sustain and the
language often is odd, self centered, off topic and monotone. Unique patterns of
speech  in terms of intonation, volume, rhythm and pitch are often heard. While
communicating there is often a disregard for personal space and a disregard for
the listeners needs.

A discussion of the feelings, thoughts, words and opinions of others is also deficient. An inability to determine and measure the conversational intent of others is universal.  Words and phrases of ambiguous meaning are difficult to understand. this makes the understanding of humor, idioms, jokes and irony difficult.

Children with ASD show various trajectories for the above communication deficits. As a child with an ASD ages he may acquire communication skills that were lacking in his youth. Every child and adult with an ASD is unique and may show all or some of the above patterns.

Play in Children with Autism Spectrum Disorders

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Children with Autism Spectrum Disorders (ASDs) have delayed pretend play skills.
They also have two unique patterns of play. These are called sensory-motor and
ritualistic play. sensory-motor play involves a combination of sensory and motor
based activities. Examples include mouthing or twirling objects, tapping or
banging objects or manipulating and touching objects in repetitive,
ritualistic and stereotypical fashions. Children with more severe forms of ASDs
who are nonverbal may have more of these patterns and behaviors then children
who are high functioning (HF).

The overall play pattern of children with ASDs is repetitive and lacks the creativity and imagination seen in age appropriate play. Children with ASDs often line up toys, cars or other characters and recognize and become upset if the objects are moved. They may
stack blocks in a sorted fashion by shape or color and may look at the
constructions from various angles including out of the corner of their eyes.
Often they are fascinated and fixated by movement patterns including the
spinning of wheels or fans. They may repetitively open and close doors or
cabinets and become upset if a door is left ajar. Rather than coloring with
pencils or crayons they may repetitively line them up or spin and flick them
back and forth.

Children with ASDs often prefer to play with common objects they find around the house rather than age appropriate toys and are able to spend expended periods playing with simple objects their age peers are bored with. Their play can be described as constructive involving blocks, computer games or puzzles or ritualistic where objects are sorted, matched or lined up. They often mix either of the above play patterns with sensory-motor play consisting of spinning, flicking, mouthing or banging a hand held object while performing another play activity. Their motor skill to accomplish this dual play is often quite amazing. While playing they often interrupt play to jump, run or
spin while making repetitive vocalizations. Games of chase or roughhousing
including wrestling or playing lap games are often preferred but the social
aspects of these activities are of less importance and interest. The body
movement during these activities appears to be the fascination as are other
sensory-motor aspects of play.

Visual play includes watching certain videos, video games or television shows over and over and often reveals a high skill level when completing puzzles or mastering video game levels. Certain topics are common aspects of fascination. These include trains, trucks and shape matching puzzles. Water and water play are often a fascination. Parents often report an advanced visual memory for car directions and recognition of any changes in the house layout including furniture or toys being reorganized.

The above play activities can persist for extended periods or change suddenly and be replaced by new patterns. Past patterns can suddenly return only to be lost again. Group activities where cooperation and the following of group rules are required are of little interest. Play activities where change is integral to the activity are confusing and often cause unease and discomfort. Frequently children with ASDs separate themselves from others and wander or elope to a more comfortable location. Children with high functioning ASDs of the Asperger Syndrome type may become frustrated by this inability to integrate with others during play and are at risk for being bullied
or victimized by peers.  High functioning children with autism generally show
minimal unease about this separation and are not concerned or frustrated with
being ignored.

Common Patterns in Children with ASDs

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Children with ASDs have excessive, unusual, unique, peculiar or repetitive
behaviors interests and activities. These include attachment and fascination to
objects and various stereotypies that are repetitive, nonfunctional and
atypical. These include finger and hand movements, hand posing positions, self
injurious behaviors and rocking or twirling movements.

The above described activities and patterns are at times disruptive but rarely cause harm to the child. Repetitive mouthing and biting of fingers or hands can cause
chronic skin changes but infections are rare. The frequency of the activity or
behavior, however, can cause the child to be off task and miss educational and
learning opportunities.

Children with disorders other than ASDs also have stereotypies. These include children with profound mental retardation and hearing or vision sensory deficits. Neurotypical (NT) children may also briefly express such behaviors but they are transient and usually they can easily be distracted from the interests and behaviors. Stereotypies are often not seen until preschool age. Earlier patterns include toe walking that may persist into
school age. Sensory tics including sniffing and licking of non food items are
also common.

Another common pattern concerns food interests and disinterests. The food menu of children with ASDs is often very limited and generally is not associated with food allergy or adverse reactions. There is a subset of of children with ASD who have gluten or milk protein sensitivity but this is not the primary reason for limited food preferences.

Transitional support objects are often unusual. Most children have various “loveys” including blankets or stuffed animals during certain developmental stages. Children with
ASDs usually prefer common household items including keys, pens, action figures
or animal models including dinosaurs or animals. They often show an extended
attachment to these “carry objects” throughout an entire day or over many weeks
or months.  If they are forced to release this object they usually become upset
and a temper tantrum is a common result. Some children with ASDs allow one carry
object to be substituted for another with little concern. This attachment can
migrate to a new object only to return again in the future.   Although these
objects are carried almost everywhere the child does not use them to engage in
typical play activities.

Children with Asperger Syndrome (AS) often show an interest in various topics and fact gathering. Rather than carrying a toy care they may show detailed knowledge about specific car types and car specifications. AS children may have a knowledge of geography, paleontology or historical details that is not unusual for age in terms of topic but is excessive due to the quantity, quality, depth and level of interest. If forced
to change topics they usually return to the topic and may become upset and
rapidly escalate into a prolonged temper tantrum with associated aggressive or
self injurious behavior (SIB).

Children with ASDs who have associated severe intellectual disabilities are more prone to self injurious behaviors that can be precipitated by frustration due to difficulty coping and adjusting to transitions, change anxiety or communication difficulty. Additionally body states in terms of fatigue, illness pain and sleep deprivation will also
accelerate stereotypies and self injurious behavior (SIB). These types of
behaviors make it difficult to integrate these children into mainstream
educational activities.

Uneven Skills in Children with ASDs

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Approximately 50% of children with ASDs have associated cognitive disabilities.
This may include intellectual disability, learning disabilities, learning style
weaknesses or splinter or savant skills. The prevalence of cognitive
disabilities has been decreasing. this is presumably due to a larger number of
children with high functioning ASDs being diagnosed as well as successful
learning strategies that are improving the learning and intellectual trajectory
for these children. Additionally, most educators believe early intervention and
an earlier diagnosis are also reasons for improved intellectual outcome and
decreased additional coexisting intellectual conditions.

A profile of uneven skills is a hallmark of the psycho educational profile of children with
ASDs. They frequently are delayed in some areas yet advanced in others.
Exceptional skills are often seen in the areas of music, memory, calculations or
art. Many of these skills are considered splinter skills and serve no purpose in
terms of day to day activities. With support and training, however, these
interests and skills can provide long term job opportunities if they are
fostered and managed.

In terms of attention children with ASDs show a functional deficiency yet they often have exceptional focusing ability. They may also have remarkable abilities to focus and mine down to specific targets yet overall frequent executive function deficiencies are seen in the areas of selective, shifting and sustained attention.

Children with ASDs often reveal a sensitivity to sound called hyperacusis;but, this is not unique to children with ASDs and is also seen in children with other developmental
disabilities. What is unique, however, is a pattern of over and under reactivity
to stimuli in the same sensory modality. They may be very aware of the sound of
a washing machine yet they show little interest in  a person’s voice.  They may
be very aware of small pieces of lint on a carpet but not notice people entering
or leaving a room. Other examples include a heightened sensitivity to the smooth
tactile sensation of satin on the side of a blanket but an aversion to being
held or hugged. From an opposite direction they may be soother by a firm hug but
agitated when the back or arm are stroked. Similarly oral sensations and
textures that are tolerated, enjoyed or disliked are highly variable. Clothing
is another often described variable sensory response. Some fabrics are more
tolerated than others as is the tightness and tactile character of various
fabrics. The seams on socks and the waistband on pants as well as sleeve length,
pant length and the tightness of shoe laces are all prone to hypersensitivity
and hypo sensitivity.

Lastly, motor patterns are also atypical, uneven and unusual. Delays in motor planning are typical as are poor coordination and deficits in motor planning, motor execution and motor sequencing. These children tend to also have attention profiles that meet the criteria of an associated attention deficit disorder even tough the present DSM-IV-R criteria exclude the diagnosis of ADHD in children with and ASD.

Screening Tools

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Pediatricians have many screening tools to detect ASDs in young children. Most
of these tools rely on associated language, cognitive and social delays as well as specific behavior patterns. These screens often do not differentiate children with ASDs from those with other developmental disabilities especially in children younger than 18 months of age. In addition, screening tools are good at screening but tend to be over inclusive. They do not separate out children who have developmental and behavioral disorders from those with ASDs.

Another concern is parent observation. Most of the screening tools rely on parent reporting based on parent observations. Such parent report based tools are brief, practical, inexpensive and are easily administered in the office setting. They do rely on parent observation but this has the benefit of those who have spent the greatest amount of time with the child reporting on the skills and patterns they have observed over an extended period of time.

Screening tools are a fundamental component of a medical home office practice. In a medical home developmental surveillance is provided over an extended period and screening tools are administered to supplement physician observation and developmental history. Such tools are designed to identify children who are at risk of an ASD from the general population. If issues are identified then the child is referred to an Early Intervention Program, a child neurologist, a developmental pediatrician, a psychiatrist, a child psychologist or a developmental clinic for more concise developmental assessments that require more time and training to administer. No matter who evaluates the child the examiner must have appropriate training and expertise. Additional evaluations from an audiologist, a speech-language pathologist and a school psychologist can aid in the evaluation and diagnosis.

Depending on the findings of the developmental assessment specialized screening may be pursued to evaluate genetic or structural central nervous system abnormalities if concerns about an underlying genetic or neurological disorder are present. The greater the intellectual disability the more likely an underlying genetic or neurological disorder will be identified. High resolution genetic testing including high-resolution chromosome analysis by G-banding and molecular testing for fragile X syndrome may be pursued. An EEG should be obtained if their are concerns about episodes of altered level of consciousness, staring spells, seizures or documented language regression in a child over 12 to 24 months of age. For children 12-24 months of age in whom language regression is often seen EEG testing is rarely helpful.

Prognosis in ASDs

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Children with autism spectrum disorders (ASDs) have a wide trajectory of developmental outcome. It is especially difficult to determine long term outcome in children under 3 years of age. For children over age 3 years the absence of expressive language, global cognitive delays and a disinterest in social interaction are highly suggestive of long term problems. As a general rule early identification and service provision  associated with educational and community inclusion are the most important factors effecting long term adaptive behavior.

Many children with mild forms of ASDs including those in the past diagnosed as having Pervasive Developmental Disorders not otherwise specified (NOS) and high functioning (HF) Asperger Syndrome (AS) have positive outcomes and develop abilities that allow integrated functioning in school and workplace settings.  The majority of these children, however, continue to display residual signs of social awkwardness, restricted interests and repetitive behaviors and activities.

More impaired outcomes are seen for children with more extensive or severe intellectual disabilities, seizures, associated psychiatric or medical disorders and more severe signs and symptoms of ASD. These children have more difficulty adapting to their surroundings and learning. Those with normal intelligence and minimal autistic symptoms have the greatest chance of transitioning successfully into the adult years.

Genetic prognostic information is difficult to provide due to the wide spectrum of diagnosis. When a broad inclusion is used for children with a diagnosis of an idiopathic ASD there may be a 20-30% risk of having a second child after the first child is diagnosed. If a second child is diagnosed then the risk may increase to 40-50% for the third child.

Intervention

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The focus on intervention for children with Autism Spectrum Disorders (ASDs) is
on the developmental transitions from childhood to adulthood and the ability to
initiate, maintain and enhance interpersonal relationships. Although skill sets
and interests change over time the primary goal throughout this life cycle is
the pursuit of a healthy lifestyle in terms of independent living, employment,
social relationships and positive mental health outcomes.

Children with ASDs rarely grow out of the diagnosis. In some situations their functional
improvement and skill acquisition is so successful that general observation
would not raise the concern of an ASD as they reach adulthood. This capability
to “become invisible” is quite rare although with mild cases of ASDs being
identified these positive trajectories may become increasingly common.

The aim of all accommodations and skill set enhancements are to minimize
the core features and associated deficits while at the same time optimizing
functional independence and enhancing overall quality of life. Throughout this
process educational and social opportunities are sought and techniques and
services are utilized to acquire the necessary independence to achieve success
in both the workplace and home settings.

Stress within the family of a child diagnosed as having an ASD is ever present. The focus is on alleviating distress in the family by promoting social and educational development while minimizing maladaptive behaviors that preclude social interaction and workplace success. As always success in job placement will hinge on the ability to provide a match of skill set and interest for a specific job while having a behavioral
profile that does not prevent successful job performance.

The educational service cornerstones are educational interventions with appropriate
accommodations matched with behavioral strategies to instill and accelerate age
and situation appropriate behaviors.These services address academic achievement,
language and communication skills, social reciprocity, daily living skills
including leisure skills and hobbies or play activities and the elimination of
problematic behaviors.

Children with ASDs also must receive appropriate medical care for both health maintenance and ongoing illnesses. They are prone to various disturbances including dietary and gastrointestinal problems as well as sleep disturbances. If associated medical conditions such as seizures or mental health disorders are present then these also must be dealt with in a proactive fashion. Due to inherent language, communication and behavioral difficulties many individuals with ASDs can be easily “missed” in terms of one of the above described problems not being recognized and dealt with by their health care provider. Due to this risk a medical home model should be pursued where the family and the medical provider collaborate in the pursuit and choice of medical services.

Medications can be very helpful to deal with various symptoms but do not cure the core deficits of those with ASDs. Attentional difficulties, mood related disorders, anxiety, sleep disturbances, aggressive or self injurious behaviors (SIB) and oppositional or repetitive behaviors are many of the reasons specific medications are chosen. Medication management must be done in consultation with a health provider experienced in the care of children and adults with ASD.