IDENTIFYING AUTISTIC SPECTRUM DISORDERS (ASDs):



WHAT DO WE MEAN BY AUTISTIC SPECTRUM DISORDERS (ASDs)? 

ASDs are disorders of relating and communicating that may be accompanied by atypical behaviors. They are caused by some dysfunction in brain wiring and it is believed that genetics play a role. The onset of symptoms occurs during the first 3 years of life, and the diagnosis is made based on behaviors that meet criteria set out in the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) published by the American Psychiatric Association. Currently, there is not yet any blood test, brain scan, or consistent early developmental sign to make the diagnosis, and research is underway to find an early ‘marker' of the disorder.

The DSM-IV Criteria refers to Pervasive Developmental Disorders (PDDs), which is a term first used in the 1980's to describe a class of disorders with common characteristics. There are 5 subcategories of PDDs given in the DSM-IV: Autism, Rett's Disorder, Childhood Disintegrative Disorder, Asperger's Syndrome, PDD-Not Otherwise Specified (NOS) . There is some confusion regarding the diagnostic terms; while PDD-NOS is an Autistic Spectrum Disorder (ASD), it is not ‘Autism.'

According to the DSM-IV criteria for Pervasive Developmental Disorders (PDDs),

the whole spectrum of PDDs include, to some degree, the following triad of clinical findings:

•  Qualitative impairments in social interactions

•  Qualitative impairments in communication

•  Atypical behaviors and interests: restricted, repetitive stereotypical patterns

In order to meet the DSM-IV criteria for autism, a child must demonstrate the following:

 

•  At least 2 signs of impaired social interaction:

•  Marked impairment in nonverbal behaviors (eye contact, gestures, facial expression)

•  Failure to establish developmentally appropriate peer relationships

•  Unable to share enjoyable times with others

•  Lack of social or emotional exchanges

 

•  At least 1 sign of impairment in communication

•  Delayed or absent speech without compensatory gesture

•  If speech present, inability to initiate or sustain conversation

•  Stereotyped or repetitive language, echolalia or idiosyncratic language

•  Lack of age appropriate play skills

 

•  At least 1 sign of restricted behavior and interests

•  Learning numerous facts about some narrow interest (e.g. dinosaurs)

•  Rigid adherence to routines or rituals (e.g. must take the same route to school)

•  Inappropriate, repetitive motor movements (e.g. hand flapping or body rocking)

•  Preoccupation with parts of objects (e.g. wheels on cars)

In order to receive a diagnosis, the child must exhibit a total of 6 signs from the 3 categories and the onset must occur before 3 years old.

WHAT IS PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED (PDD-NOS)?

The diagnosis of PDD-NOS is made when a child exhibits atypical behaviors in social interactions and communication (verbal/nonverbal) that do not meet the full criteria for autism. There is clinical evidence that autism and PDD-NOS are on a continuum, and in fact, a child initially diagnosed with autism can improve and be re-diagnosed as having PDD-NOS.

PDD-NOS is ‘a spectrum disorder,' and this is reflected in the wide range of diversity among children with this diagnosis. PDD-NOS can range from ‘mild' with a few symptoms in school or community, to more ‘severe' forms that can pervade all aspects of life. A single child seldom shows all features at one time, and these can include the following:

Social behavior

•  May lack eye contact but enjoy a tickle

•  May not develop typical attachment behavior

•  May ignore peers or watch them from the sidelines

Understanding Language

•  Impaired to varying degrees

•  Some may have MR and continue to have limited understanding of speech

•  If mild impairment, may miss subtle or abstract meanings, humor, sarcasm

Speech Development

•  Absent or delayed babbling; early speech development then regression

•  Echolalia

•  Monotonous, flat delivery or chanting singsong w/ question-like intonation

•  Odd breathing rhythms -->staccato speech

•  When develop functional speech, may have difficulty talking out of immediate context

•  May talk excessively about own interests

•  May talk at someone rather that with someone

Nonverbal communication

•  May pull parent by the hand to a desired object but not point

•  May not nod “yes” or “no”

•  May not participate in games that involve imitation

•  May show extremes of emotion (joy, fear, anger) but unable to show subtle emotion

 

Unusual Patterns of Behavior

•  Resistance to change or transitions (even a minor change in routine can cause a tantrum)

•  Ritualistic or compulsive behaviors (repetitive hand mvts, adherence to limited variety of foods, strange preoccupations (memorizing planets and planetary trivia)

•  Hyperlexia

•  Intense attachments to certain objects

•  DSI w/ under- or overresponsiveness to sensory stimuli

•  Unaware of danger, but might be frightened of harmless object (certain stuffed animal)

 

Disturbance of Movement

•  May have delayed motor milestones

•  Exhibit dyspraxia = “clumsy child syndrome”

•  Difficulty w/ motor imitation

 

Intelligence and Cognition (generally)

•  Relative strengths in tests requiring manipulation, visual skill, immediate memory

•  Weak in abstract thought and logic

•  Some have difficulty with language processing, gesture comprehension

•  Impaired learning in capacity for imitation, flexibility, creativity, learning/applying rules, generalizing what they have learned

•  Some show excellent rote memory w/ special talents (music, math, mechanics, reading)

•  Need experienced, qualified professionals to perform testing--use of non-verbal measures when indicated


WHAT ARE OTHER PERVASIVE DEVELOPMENTAL DISORDERS?

Asperger's Syndrome involves an impairment in social interactions (socially awkward, difficulty making friends), repetitive, stereotyped patterns of behavior (may have rituals, “little professor” w/ intense interest in specific topics), and a difficulty responding to and interpreting social cues/facial expressions. People with Asperger's syndrome can be very intelligent and successful in their careers. While the diagnosis of Asperger's syndrome requires no siginificant delay in language development, there is a difficulty with pragmatic – or social – language skills. For example, someone with Asperger's syndrome may not understand clichés or jokes and interpret another's speech very literally. Often, an individual with Asperger's syndrome sees details, but not the big picture. Generally, they are referred for a social skills group during school age.

Rett Syndrome occurs primarily in girls, and is characterized by normal development until 5 months of age. Between 5-30 months, there is a decline in head circumference, a loss of hand skills, as well as a loss of language and social engagement. In 80% of cases, Rett Syndrome is a result of a mutation in the MECP2 gene.

Childhood Disintegrative Disorder is a regression in development after 2 yearrs of age with the onset of autistic signs and has a rare rate of occurrence.

WHAT ARE THE CLINICAL CLUES FOR THE POSSIBLE DIAGNOSIS OF PDD/AUTISM?

•  Delay or absence of spoken language

•  Looks through people, not aware of others

•  Not responsive to other people's facial expressions or feelings

•  Does not show typical interest in playing with peers

•  Lack of pretend play

•  Does not point to an object to direct another person to look at it

•  Lack of gaze monitoring

•  Unusual or repetitive hand and finger mannerisms

•  Unusual reactions to sensory stimuli

WHAT IF YOU HAVE CONCERNS? WHERE TO START?

Your pediatrician is in a key position to identify young children with developmental delays and disorders. While it is difficult for a pediatrician to find time to evaluate development in a busy pediatric challenge, there are screening instruments the pediatrician can use to determine what children would benefit from a full developmental assessment. If you have concerns about your child's development, bring them to the attention of your pediatrician, and he/she can refer you to a developmental specialist, such as developmental pediatrician , pediatric neurologist, child psychiatrist, or child psychologist for further evaluation.

In order to monitor your child's development, routine developmental surveillance should be occurring at every well-child visit. Hearing/vision screenings should be part of these exams, and referral to an audiologist for a more accurate hearing assessment may be needed. Practice guidelines for pediatricians ( Neurology, 8/2000 ) indicate that a child should be referred for immediate evaluation if there is no babbling, pointing, or gesturing by 12 months, no single words by 16 months, no 2-word phrases by 24 months, or a regression in language and/or social skills at any time. 

WHAT HAPPENS IN A DEVELOPMENTAL ASSESSMENT WITH A DEVELOPMENTAL PEDIATRICIAN?

There are many components to a developmental assessment. The first part is the medical assessment , which involves the following:

•  Medical/developmental history, including birth history, neurologic insults, ear infections, seizures, family history

•  Physical exam/neurological exam, including head circumference, congenital anomalies, skin markings

 

The developmental assessment generally includes the following:

•  Assessment of cognition, communication, motor skills, adaptive skills, social/emotional/behavioral functioning, sensory processing

•  Observation of play and parent-child interactions

•  The use of an autism assessment tool, such as

•  Childhood Autism Rating Scale (CARS)

•  Gilliam Autism Rating Scale (GARS)

•  Autism Diagnostic Interview-Revised (ADI-R)

•  Autism Diagnostic Observation Schedule (ADOS)

The actual diagnosis of ASD should be made by experienced physicians (neurodevelopmental specialists) or licensed psychologists.

WHY IS A COMPLETE AUDIOLOGICAL AND SPEECH AND LANGUAGE PATHOLOGY EVALUATION IMPORTANT?

A speech language pathologist (SLP) assesses speech/language/oral-motor functioning. A significant number of children with ASDs also have oral/verbal apraxia, which can be contributing to a child's difficulty with communication. A child with apraxia will have difficulty with motor planning, and generally, comprehension skills will be stronger than expressive skills. These children have difficulty sequencing sounds, syllables, and words and moving the articulators (tongue, lips, jaw). They may be clumsy, have a history of feeding problems and advancing to textured foods. As well, a thorough evaluation of language pragmatics will be performed, assessing the child's use of language for communicative purposes and social use of language when interacting with others.

An audiological assessment, which is performed by an audiologist, is essential in ruling out hearing loss as possible etiology (cause) for a speech/language delay or atypical behaviors. Some children may be identified as having Auditory Processing Dysfunction (APD), that is, having difficulty recognizing the source of sounds and discriminating between sounds, have difficulty paying attention, and are easily distracted by background noise. They are often sensitive to loud sounds. With regards to language, these children often have difficulty understanding language, especially when an utterance is lengthy or someone speaks rapidly. They will often say ‘huh' or ‘what' frequently. Formal diagnosis for APD is usually not made until a child is 7 years old.

WHY IS AN OCCUPATIONAL THERAPY AND PHYSICAL THERAPY EVALUATION IMPORTANT?

An occupational therapy (OT) evaluation addresses upper body muscle tone and strength as well as motor planning skills. The occupational therapist will also assess fine motor skills and self-help skills. An assessment of sensory integration skills will also be included in an evaluation.

A physical therapy (PT) evaluation addresses gross motor abilities, gait, toe walking, and the need for orthotics.

WHY IS A PSYCHOLOGICAL EVALUATION IMPORTANT?

A psychologist will perform testing to determine a child's cognitive abilities. Non-verbal assessment tools, (such as the Leiter, CTONI) rather than traditional tests, like the Stanford-Binet or WPPSI. Adaptive and behavioral testing will also be performed and is often based on parent report tools, such as Vineland Adaptive Behavior Scales or the Achenbach Child Behavior Checklist. Finally, educational testing, including both formal (standardized tests) and informal (observation, interview) will also be a component of the assessment. A school age child evaluation includes pre-academic (readiness) skills, academic skills (reading, arithmetic), activities of daily living, as well as learning style and problem solving approaches.

WHAT GUIDELINES ARE USED BY PROFESSIONALS FOR ESTABLISHING THE DIAGNOSIS OF AN ASD?

First and foremost, no single autism assessment instrument should be used as the sole basis for giving a diagnosis of autism. Making a diagnosis of an ASD is complex, and no single method is perfect. The diagnosis should include direct observation of the child, as well as interviews with parents, teachers, and therapists if necessary. The child may need to be seen in multiple domains (home, school), and not just the doctor's office. The evaluation summary, diagnosis, and recommendations should reflect all of the information collected on behalf of the child, and prior evaluations may be reviewed. A conference to discuss the conclusions and plan should be held with the parents in an unhurried manner. As the parents, if the information does not accurately describe your child, let the evaluator know. Even though the diagnosis may be devastating, make sure the report is a true representation of your child. If you are not satisfied with the diagnosis and/or outcome of a school evaluation, get an independent assessment.

IT'S NOT ALWAYS ASD

It is important to differentiate from disorders that present in a similar manner. These can include the following:

•  Sensory impairment (DSI)

•  Speech/language/hearing impairments

•  Other neurologic disorders (progressive or degenerative)

•  Fragile X

•  Landau-Kleffner Syndrome (LKS)*

•  ADHD

•  Reactive Attachment Disorder, elective mutism or other psychiatric disorders

MEDICAL TESTING: WHO NEEDS FURTHER WORKUPS?

Children with major anomalies compatible with known syndromes should have genetic testing performed, and a referral to a geneticist should be considered. In boys with mental retardation and autism, Fragile X testing should occur; it is the most common inherited disorder resulting in mental retardation.

The use of EEG's is indicated when there is a clinical history suggestive of seizures, a history of regression, an associated neurological abnormality, or a suspected *Landau-Kleffner Syndrome (possible history of seizure activity, language regression, or if a child is non-verbal). Results of an EEG do not make the diagnosis of autism.

Other brain imaging studies are not routinely indicated, but may provide clues if there are focal neural findings, enlarging head circumference, or neurocutaneous disorders. Newer imaging techniques (fMRI, PET, SPECT) may shed light on autism.

WHAT MEDICAL, DEVELOPMENTAL, AND BEHAVIORAL PROBLEMS CAN BE ASSOCIATED WITH ASD?

Children with ASD can have Mental Retardation (MR), Cerebral Palsy (CP), as well as hearing and vision impairments. Approximately 33% have seizures, with onset in adolescence while 33% have abnormal EEGs but no seizures. Behavior problems commonly seen include hyperactivity, inattention, aggression, tantrums, noncompliance, and sleep disorders. The diagnosis of ADHD is not appropriate in early childhood, though hyperactivity and inattention are significant problems for this population.

SPECIAL EDUCATION: WHAT YOU NEED TO KNOW

The Individuals with Disabilities Education Act (IDEA) became a federal standard in 1976, and was most recently amended in 2004. IDEA consists of two major components: 1) Part C – Early Intervention (EI) services for children ages birth to 3 years and 2) Part B – Special Education services for preschool children, ages 3 to 5 years, with special education services through the local school district.

WHAT ARE SOME OF THE EDUCATIONAL AND BEHAVIORAL APPROACHES THAT ARE RECOMMENDED FOR A CHILD WITH AN ASD?

EARLY INTENSIVE BEHAVIORAL INTERVENTION (EIBI) using principles of APPLIED BEHAVIORAL ANALYSIS (ABA) have become gold standard for educational treatment for children with ASDs. The use of discrete trial training (DTT) focuses on increasing attention, eye contact, imitation, matching, and language development. VERBAL BEHAVIOR (VB) is a related approach that is becoming more popular, with an emphasis on “natural environment training” and the child's interests guide language instruction.

Ideally children should begin programs as early as possible (2 years old) to take advantage of the window of brain plasticity. The risks of misdiagnosing or over-diagnosing a child with ASD are outweighed by a missed opportunity for appropriate interventions. Research has shown that intensive programs, including more than 20 hours per week of instruction, are effective. Within these programs, regular supervision from a qualified professional should be included, as well as parent training in behavioral techniques and inclusion as part of the team, and regular monitoring of progress through data analysis.

TEACCH Program is another educational method designed to educate children diagnosed with an ASD. Within the TEACCH program, there are structured classrooms with transition area and workstations and structured tasks are performed that build on strengths, including visual skills and rote learning abilities. Tasks are completed at workstations and children follow visually clear schedules of the day's activities. Structured teaching can be implemented in the home as well as in the classroom. (Dawson & Osterling, 1997)

DIR MODEL-FLOOR TIME (GREENSPAN APPROACH) may be particularly useful in facilitating circles of communication once a child has learned to imitate and is more responsive to social cues.

SENSORY INTEGRATION THERAPY is based on the theory that processing sensory messages (sight, hearing, touch, sense of position, movement, etc.) is absent or malfunctioning in children with autism and other disorders. This technique provides individualized sensory experiences using controlled movement, touch, brushing programs, and balance, that are designed to normalize the sensory system.

COMPLEMENTARY AND ALTERNATIVE MEDICINE (CAM) TREATMENTS including the DAN! Approach, are often sought out by parents as an adjunct to conventional educational and behavioral programs.