| AUTISM SPECTRUM DISORDERS |
| Autism Spectrum Disorders (Pervasive Developmental Disorders) Not until the middle of the twentieth century was there a name for a disorder that now appears to affect an estimated one of every 110 children (boys 4 x more likely), a disorder that causes disruption in families and unfulfilled lives for many children. In 1943 Dr. Leo Kanner of the Johns Hopkins Hospital studied a group of 11 children and introduced the label early infantile autism into the English language. At the same time a German scientist, Dr. Hans Asperger, described a milder form of the disorder that became known as Asperger syndrome. Thus these two disorders were described and are today listed in the Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR (4th edition, text revision) as two of the five pervasive developmental disorders (PDD), more often referred to today as Autism Spectrum Disorders (ASD). All these disorders are characterized by varying degrees of impairment in communication skills, social interactions, and restricted, repetitive and stereotyped patterns of behavior. The Autism Spectrum Disorders can often be reliably detected by the age of 3 years, and in some cases as early as 18 months. Studies suggest that many children eventually may be accurately identified by the age of 1 year or even younger. The appearance of any of the warning signs of ASD is reason to have a child evaluated by a professional specializing in these disorders. Parents are usually the first to notice unusual behaviors in their child. In some cases, the baby seemed "different" from birth, unresponsive to people or focusing intently on one item for long periods of time. The first signs of an ASD can also appear in children who seem to have been developing normally. When an engaging, babbling toddler suddenly becomes silent, withdrawn, self-abusive, or indifferent to social overtures, something is wrong. Research has shown that parents are usually correct about noticing developmental problems, although they may not realize the specific nature or degree of the problem. The pervasive developmental disorders, or Autism Spectrum Disorders, range from a severe form, called Autistic disorder, to a milder form, Asperger syndrome. If a child has symptoms of either of these disorders, but does not meet the specific criteria for either, the diagnosis is called Pervasive Developmental Disorder Not Otherwise Specified (PDD-NOS). Other rare, very severe disorders that are included in the autism spectrum disorders are Rett syndrome and Childhood Disintegrative Disorder. The word on the street is that these other disorders will be removed from the DSM in the upcoming edition. We will see. |
| What are the Autism Spectrum Disorders? The Autism Spectrum Disorders are more common in the pediatric population than are some better known disorders such as diabetes, spina bifida, or Down syndrome. Prevalence studies have been done in several states and also in the United Kingdom, Europe, and Asia. Prevalence estimates range from 2 to 6 per 1,000 children (current accepted prevalence is 1 in 110, 2010). This wide range of prevalence points to a need for earlier and more accurate screening for the symptoms of ASD. The earlier the disorder is diagnosed, the sooner the child can be helped through treatment interventions. Pediatricians, family physicians, daycare providers, teachers, and parents may initially dismiss signs of ASD, optimistically thinking the child is just a little slow and will "catch up." Although early intervention has a dramatic impact on reducing symptoms and increasing a child's ability to grow and learn new skills, it is estimated that only 50 percent of children are diagnosed before kindergarten. Children with ASD demonstrate deficits in 1) social interaction, 2) verbal and nonverbal communication, and 3) repetitive behaviors or interests. In addition, they will often have unusual responses to sensory experiences, such as certain sounds or the way objects look. Each of these symptoms runs the gamut from mild to severe. They will present differently in each individual child. For instance, a child may have little trouble learning to read but exhibit extremely poor social interaction. Each child will display communication, social, and behavioral patterns that are individual but fit into the overall diagnosis of ASD. Children with ASD do not follow the typical patterns of child development. In some children, hints of future problems may be apparent from birth. In most cases, the problems in communication and social skills become more noticeable as the child lags further behind other children the same age. Some other children start off well enough. Oftentimes between 12 and 36 months old, the differences in the way they react to people and other unusual behaviors become apparent. Some parents report the change as being sudden, and that their children start to reject people, act strangely, and lose language and social skills they had previously acquired. In other cases, there is a plateau, or leveling, of progress so that the difference between the child with autism and other children the same age becomes more noticeable. ASD is defined by a certain set of behaviors that can range from the very mild to the severe. The following possible indicators of ASD were identified on the Public Health Training Network Webcast, Autism Among Us. |
| Possible Indicators of Autism Spectrum Disorders ~Does not babble, point, or make meaningful gestures by 1 year of age ~Does not speak one word by 16 months ~Does not combine two words by 2 years ~Does not respond to name ~Loses language or social skills Some Other Indicators ~Poor eye contact ~Doesn't seem to know how to play with toys ~Excessively lines up toys or other objects ~Is attached to one particular toy or object ~Doesn't smile ~At times seems to be hearing impaired |
| Social Symptoms From the start, typically developing infants are social beings. Early in life, they gaze at people, turn toward voices, grasp a finger, and even smile. In contrast, most children with ASD seem to have tremendous difficulty learning to engage in the give-and-take of everyday human interaction. Even in the first few months of life, many do not interact and they avoid eye contact. They seem indifferent to other people, and often seem to prefer being alone. They may resist attention or passively accept hugs and cuddling. Later, they seldom seek comfort or respond to parents' displays of anger or affection in a typical way. Research has suggested that although children with ASD are attached to their parents, their expression of this attachment is unusual and difficult to "read." To parents, it may seem as if their child is not attached at all. Parents who looked forward to the joys of cuddling, teaching, and playing with their child may feel crushed by this lack of the expected and typical attachment behavior. Children with ASD also are slower in learning to interpret what others are thinking and feeling. Subtle social cues—whether a smile, a wink, or a grimace—may have little meaning. To a child who misses these cues, "Come here" always means the same thing, whether the speaker is smiling and extending her arms for a hug or frowning and planting her fists on her hips. Without the ability to interpret gestures and facial expressions, the social world may seem bewildering. To compound the problem, people with ASD have difficulty seeing things from another person's perspective. Most 5-year-olds understand that other people have different information, feelings, and goals than they have. A person with ASD may lack such understanding. This inability leaves them unable to predict or understand other people's actions. Although not universal, it is common for people with ASD also to have difficulty regulating their emotions. This can take the form of "immature" behavior such as crying in class or verbal outbursts that seem inappropriate to those around them. The individual with ASD might also be disruptive and physically aggressive at times, making social relationships still more difficult. They have a tendency to "lose control," particularly when they're in a strange or overwhelming environment, or when angry and frustrated. They may at times break things, attack others, or hurt themselves. In their frustration, some bang their heads, pull their hair, or bite their arms. |
| Communication Difficulties By age 3, most children have passed predictable milestones on the path to learning language; one of the earliest is babbling. By the first birthday, a typical toddler says words, turns when he hears his name, points when he wants a toy, and when offered something distasteful, makes it clear that the answer is "no." Some children diagnosed with ASD remain mute throughout their lives. Some infants who later show signs of ASD coo and babble during the first few months of life, but they soon stop. Others may be delayed, developing language as late as age 5 to 9. Some children may learn to use communication systems such as pictures or sign language. Those who do speak often use language in unusual ways. They seem unable to combine words into meaningful sentences. Some speak only single words, while others repeat the same phrase over and over. Some children with ASD parrot what they hear, a condition called echolalia. Although many children with no ASD go through a stage where they repeat what they hear, it normally passes by the time they are 3. Some children only mildly affected may exhibit slight delays in language, or even seem to have precocious language and unusually large vocabularies, but have great difficulty in sustaining a conversation. The "give and take" of normal conversation is hard for them, although they often carry on a monologue on a favorite subject, giving no one else an opportunity to comment. Another difficulty is often the inability to understand body language, tone of voice, or phrases of speech. They might interpret a sarcastic expression such as "Oh, that's just great" as meaning it really IS great. While it can be hard to understand what children with ASD are saying, their body language is also difficult to understand. Facial expressions, movements, and gestures rarely match what they are saying. Also, their tone of voice fails to reflect their feelings. A high-pitched, sing-song, or flat, robot-like voice is common. Some children with relatively good language skills speak like little adults, failing to pick up on the kid-speak that is common in their peers. Without meaningful gestures or the language to ask for things, people with ASD are at a loss to let others know what they need. As a result, they may simply scream or grab what they want. Until they are taught better ways to express their needs, children with ASD do whatever they can to get through to others. As people with ASD grow up, they can become increasingly aware of their difficulties in understanding others and in being understood. As a result they may become anxious or depressed. |
| Repetitive Behaviors Although children with ASD usually appear physically normal and have good muscle control, odd repetitive motions may set them off from other children. These behaviors might be extreme and highly apparent or more subtle. Some children and older individuals spend a lot of time repeatedly flapping their arms or walking on their toes. Some suddenly freeze in position. As children, they might spend hours lining up their cars and trains in a certain way, rather than using them for pretend play. If someone accidentally moves one of the toys, the child may be tremendously upset. Children with ASD need, and may demand, absolute consistency in their environment. A slight change in any routine—in mealtimes, dressing, taking a bath, going to school at a certain time and by the same route—can be extremely disturbing. Perhaps order and sameness lend some stability in a world of confusion. Repetitive behavior sometimes takes the form of a persistent, intense preoccupation. For example, the child might be obsessed with learning all about vacuum cleaners, train schedules, or lighthouses. Often there is great interest in numbers, symbols, or science topics. |
| Problems That May Accompany ASD Sensory problems. When children's perceptions are accurate, they can learn from what they see, feel, or hear. On the other hand, if sensory information is faulty, the child's experiences of the world can be confusing. Many children with ASD are highly attuned or even painfully sensitive to certain sounds, textures, tastes, and smells. Some children find the feel of clothes touching their skin almost unbearable. Some sounds—a vacuum cleaner, a ringing telephone, a sudden storm, even the sound of waves lapping the shoreline—will cause these children to cover their ears and scream. In ASD, the brain seems unable to balance the senses appropriately. Some children with ASD are oblivious to extreme cold or pain. A child with ASD may fall and break an arm, yet never cry. Another may bash his head against a wall and not wince, but a light touch may make the child scream with alarm. Intellectual disability. Many children with ASD have some degree of intellectual disability. When tested, some areas of ability may be normal, while others may be especially weak. For example, a child with ASD may do well on the parts of the test that measure visual skills but earn low scores on the language subtests. Seizures. One in four children with ASD develops seizures, often starting either in early childhood or adolescence. Seizures, caused by abnormal electrical activity in the brain, can produce a temporary loss of consciousness (a blackout), a body convulsion, unusual movements, or staring spells. Sometimes a contributing factor is a lack of sleep or a high fever. An EEG (electroencephalogram—recording of the electric currents developed in the brain by means of electrodes applied to the scalp) can help confirm the presence of seizures. In most cases, seizures can be controlled by a number of medicines called anticonvulsants. The dosage of the medication is adjusted carefully so that the least possible amount of medication will be used to be effective. Fragile X syndrome. This disorder is the most common inherited form of intellectual disability. It was so named because one part of the X chromosome (FMR1 gene; XLR) has a defective piece that appears pinched and fragile when under a microscope. Fragile X syndrome affects about two to five percent of people with ASD. It is important to have a child with ASD checked for Fragile X, especially if the parents are considering having another child. For an unknown reason, if a child with ASD also has Fragile X, there is a one-in-two chance that boys born to the same parents will have the syndrome. Other members of the family who may be contemplating having a child may also wish to be checked for the syndrome. Tuberous Sclerosis. Tuberous sclerosis is a rare genetic disorder that causes benign tumors to grow in the brain as well as in other vital organs. It has a consistently strong association with ASD. One to 4 percent of people with ASD also have tuberous sclerosis. |
| Rare Autism Spectrum Disorders Rett Syndrome Rett syndrome is relatively rare, affecting almost exclusively females, one out of 10,000 to 15,000. After a period of normal development, sometime between 6 and 18 months, autism-like symptoms begin to appear. The little girl's mental and social development regresses—she no longer responds to her parents and pulls away from any social contact. If she has been talking, she stops; she cannot control her feet; she wrings her hands. Some of the problems associated with Rett syndrome can be treated. Physical, occupational, and speech therapy can help with problems of coordination, movement, and speech. Scientists sponsored by the National Institute of Child Health and Human Development have discovered that a mutation in the sequence of a single gene can cause Rett syndrome (MECP3 gene on the X chromosome; XLD). This discovery may help doctors slow or stop the progress of the syndrome. It may also lead to methods of screening for Rett syndrome, thus enabling doctors to start treating these children much sooner, and improving the quality of life these children experience.* Childhood Disintegrative Disorder Very few children who have an autism spectrum disorder (ASD) diagnosis meet the criteria for childhood disintegrative disorder (CDD). An estimate based on four surveys of ASD found fewer than two children per 100,000 with ASD could be classified as having CDD. This suggests that CDD is a very rare form of ASD. It has a strong male preponderance. Symptoms may appear by age 2, but the average age of onset is between 3 and 4 years. Until this time, the child has age-appropriate skills in communication and social relationships. The long period of normal development before regression helps differentiate CDD from Rett syndrome. The loss of such skills as vocabulary are more dramatic in CDD than they are in classic autism. The diagnosis requires extensive and pronounced losses involving motor, language, and social skills. CDD is also accompanied by loss of bowel and bladder control and oftentimes seizures and a very low IQ. |
| IDEA 2004 Definition of AUTISM: "A developmental disability significantly affecting verbal and nonverbal communication and social interaction, generally evident before age 3, that adversely affects a child’s educational performance. Other characteristics often associated with [this category] are engagement in repetitive activities and stereotyped movements, resistance to environmental change or change in daily routines, and unusual responses to sensory experiences. " |
| DSM diagnostic criteria for Rett Syndrome and Childhood Disintegrative Disorder can be found here. RETT SYNDROME is part of the Autism Spectrum Disorder that occurs almost exclusively in FEMALES (autism is found more often in boys). This next page gives you some more information about Rett Syndrome -- extremely interesting!! CHILDHOOD DISINTEGRATIVE DISORDER is also on this page, right after Rett Syndrome. |
| (1) Autistic Disorder. Autistic Disorder, sometimes referred to as early infantile autism or childhood autism, is four times more common in boys than in girls. Children with Autistic Disorder have a moderate to severe range of communication, socialization, and behavior problems. Many children with autism also have intellectual disability. The DSM-IV criteria by which Autistic Disorder is diagnosed are presented below. Diagnostic Criteria for Autistic Disorder A. A total of six (or more) items from (1), (2), and (3), with at least two from (1), and one each from (2) and (3): (1) qualitative impairment in social interaction, as manifested by at least two of the following: (a) marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction (b) failure to develop peer relationships appropriate to developmental level (c) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest) (d) lack of social or emotional reciprocity (2) qualitative impairments in communication as manifested by at least one of the following: (a) delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime) (b) in individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others (c) stereotyped and repetitive use of language or idiosyncratic language (d) lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level (3) restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: (a) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus (b) apparently inflexible adherence to specific, nonfunctional routines or rituals (c) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements) (d) persistent preoccupation with parts of objects B. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) social interaction, (2) language as used in social communication, or (3) symbolic or imaginative play. C. The disturbance is not better accounted for by Rett's Disorder or Childhood Disintegrative Disorder. (APA, 1994, pp. 70-71) (Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Copyright 1994 American Psychiatric Association.) __________________________________________________________________________________________________________ (4) Asperger's Disorder. Asperger's Disorder, also referred to as Asperger or Asperger Syndrome, is a developmental disorder characterized by a lack of social skills; difficulty with social relationships; poor coordination and poor concentration; and a restricted range of interests, but normal intelligence and adequate language skills in the areas of vocabulary and grammar. Asperger Syndrome appears to have a somewhat later onset than Autistic Disorder, or at least is recognized later. An individual with Asperger Syndrome does not possess a significant delay in language development; however, he or she may have difficulty understanding the subtleties used in conversation, such as irony and humor. Also, while many individuals with autism have mental retardation, a person with Asperger's possesses an average to above average intelligence (Autism Society of America, 1995). Asperger is sometimes incorrectly referred to as "high-functioning autism." The diagnostic criteria for Asperger's Disorder as set forth in the DSM-IV are presented below. Diagnostic Criteria for Asperger's Disorder A. Qualitative impairment in social interaction, as manifested by at least two of the following: (1) marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction (2) failure to develop peer relationships appropriate to developmental level (3) a lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by a lack of showing, bringing, or pointing out objects of interest) (4) lack of social or emotional reciprocity B. Restricted repetitive and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following: (1) encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus (2) apparently inflexible adherence to specific, nonfunctional routines or rituals (3) stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements) (4) persistent preoccupation with parts of objects C. The disturbance causes clinically significant impairment in social, occupational, or other important areas of functioning. D. There is no clinically significant general delay in language (e.g., single word used by age 2 years, communicative phrases used by age 3 years). E. There is no clinically significant delay in cognitive development or in the development of age-appropriate self-help skills, adaptive behavior (other than in social interaction), and curiosity about the environment in childhood. F. Criteria are not met for another specific Pervasive Developmental Disorder, or Schizophrenia. (APA, 1994, p. 77) (Reprinted with permission from the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. Copyright 1994 American Psychiatric Association.) ___________________________________________________________________________________________________ (5) Pervasive Developmental Disorder Not Otherwise Specified. Children with PDD-NOS either (a) do not fully meet the criteria of symptoms clinicians use to diagnose any of the four specific types of PDD above, and/or (b) do not have the degree of impairment described in any of the above four PDD specific types. According to the DSM-IV, this category should be used "when there is a severe and pervasive impairment in the development of social interaction or verbal and nonverbal communication skills, or when stereotyped behavior, interests, and activities are present, but the criteria are not met for a specific Pervasive Developmental Disorder, Schizophrenia, Schizotypal Personality Disorder, or Avoidant Personality Disorder" (American Psychiatric Association, 1994, pp. 77-78). Diagnosing PDD-NOS The DSM-IV suggests that the diagnostic label of PDD-NOS be used when there is a severe and pervasive impairment in the development of reciprocal social interaction, verbal and nonverbal communication skills, or the development of seemingly meaningless repetitive behavior, interests, and activities, but when the criteria are not completely met for a specific disorder within the category PDD (e.g., Autistic Disorder, Rett's Disorder, Asperger's Disorder). However, the DSM-IV framework has not offered specific techniques or criteria for diagnosing PDD-NOS. No Specific Test Available Currently, no objective biological test, such as a blood test or an X-ray examination, can confirm a child's PDD-NOS diagnosis. Diagnosing PDD-NOS is complicated and much like putting together a jigsaw puzzle that does not have a clear border and picture. Therefore, it is reasonable to say that, when a PDD-NOS diagnosis is made, it reflects the clinician's best guess. Obtaining an accurate diagnosis requires an assessment conducted by a well-trained professional who specializes in developmental disorders, usually a child psychiatrist, developmental pediatrician, pediatric neurologist, developmental pediatrician, child psychologist, developmental psychologist, or neuropsychologist. |
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