ASD or autism spectrum disorder is a behavioral disorder of speech, communication, social interaction, and repetitive type compulsive behavior. There are three levels of ASD recognized by the DSMV (Diagnostic and Statistical Manual, 5th edition). The three levels of severity for ASD include:
The diagnosis of ASD is clinical, meaning “what you see is what you’ve got.” One needs to meet specific diagnostic criteria for ASD, but the general requirements are that one must have symptoms that belong to the three main areas of impairments:
These symptoms coupled with a severe impairment in speech, social skills, or repetitive stereotyped behavior qualifies one for ASD. The three levels of severity depend on how much support each individual requires.
At times, especially when diagnosed early, it may be difficult to predict what the final outcome will be. Even though ASD is a lifelong disorder, some children will do better than others and a small proportion may “outgrow” some of the difficulties. Subtle changes, however, persist universally, even in the best of situations throughout life, and involve mostly social interaction skills and some obsessive-compulsive behaviors.
A simplified way of understanding the diagnosis of ASD is looking at the ASD assessment scale questionnaire. In order to qualify for an ASD diagnosis, one needs to have some behavioral features from each one of the three subgroups listed. This, of course, must be associated with a severe speech, social, or repetitive behavior impairment. A more comprehensive understanding of the condition and its diagnostic levels is provided by the DSM V criteria for ASD.
The full diagnostic criteria for the pervasive developmental disorders are outlined below. As mentioned above, the diagnostic criteria for the autistic (ASD) disorders are defined by the DSM IV criteria.
Note: Individuals with well-established DSM IV criteria or Pervasive Developmental Disorder (PDD) should be given the diagnosis of ASD. Individuals with marked deficits in social communication who do not meet criteria for ASD should be evaluated for social (pragmatic) communication disorder.
There are no subtypes of ASD. The distinction is based on the severity of presentation and the degree of support required by each individual with ASD. *Level 1: requiring support, *level 2: substantial support, *level 3: very substation support
PDD and Asperger’s disorder are old terms, belonging to the previous diagnostic (DSM IV) criteria. There are a total of five different PDDs, explained below.
These terms are no longer in use, as they belong to the previous (DMS IV) criteria, but you may still hear some professionals use these when talking about a child diagnosed with Autistic disorder prior to 2013.
Always presents before 36 months of age, these children may have some speech developmental and social interactive regression, usually around 18 months of age. The diagnosis of childhood autism must meet the specific DMS IV criteria and will therefore present with poor eye contact, pervasive ignoring, language delay, and other features. Per definition, these children will have a severe impairment in speech, communication, or social interaction. Many of them will be completely non-verbal and “in their own world,” with lifelong, severe impairment.
These are kids with a form of autism that affects language less, yet there are difficulties with appropriate speech and communicative development. Mostly, however, these children have social interaction difficulties and impairments related to a restricted, repetitive, stereotype behavior. These kids may have very high IQ’s, may do very well academically, have a superior memory for “unimportant” details, such as the birth dates of all baseball players, some historical or geographical trivia, yet they lack the skills to care for themselves and live independently. These individuals may talk repetitively about a certain topic without understanding that it may be boring to others. The “amount” of memory of these individuals is incredible and one may expect different degrees of impairments with Asperger’s syndrome. This may involve more or less memory and more or less social communicative impairment with regards to being able to live independently. As long as a child or individual seems “different” or “odd” and has a thought process that doesn’t fit the way everyone else thinks, yet shows some of the required autistic characteristics, Asperger’s syndrome should be considered. Many people with this condition remain undiagnosed because of their ability to compensate with their memory or excellent academic abilities, yet they are considered by others to be “socially inept,” “weird,” “nerds,” “bizarre,” “eccentric,” etc.
A typical example of a child with Asperger’s syndrome would be that of a child who has some odd behaviors, poor eye contact, “sluggish” social interaction abilities, and an extreme interest in a central topic such as a washing machine. The child likes to sit and watch the washing machine door rotate, knows everything about it including its operative and professional manual and may spend hours perseverating about it. Such a child when he has a play date, may try to involve his “friend” in his most exciting interest (the washing machine) without realizing how boring it is to others and that will be the end of the play dates forever. This pattern may present itself in different degrees and circumstances, but the prinicipal is the same: the lack of the ability to understand how other people perceive what you do, say, or express with body language and facial expressions.
These are kids who develop normally for the first 3 years of life. Later they seem to regress and develop some autistic features associated with a severe functional impairment. These children must be thoroughly evaluated for the possibility of the development of seizures, affecting the speech areas of the brain, or Landau Kleffner syndrome (acquired epileptiform aphrasia), where seizure activity “robs” the brain from previously acquired speech.
This affects only girls. These are girls who develop normally until 6 months of age and regress. Their regression is associated with microcephaly (small head). The head size seems to stop growing from 6 months and on, from the time of the observed regression. Recently a specific chromosomal marker (MEC-P-2) has been associated with this disorder and is now commercially available in some laboratories.
PDD NOS will present similarly to the kids who have autism, but will have a lesser degree of a severe impairment. These kids are more likely to be verbal and have some degree of verbal or non-verbal effective communication, yet they must have the autistic features (as per the DSM IV criteria) and a severe impairment in social interaction, communication, or repetitive stereotype behavior. This term is reserved for children with a severe impairment who do not fully qualify for any other autistic diagnosis, due to age of onset or combination of autistic features.
Most kids with ASD simply present with a language delay. Some never acquire language, but most will have a slight regression, losing the ability to say a few words that they’ve already learned. This may occur at around 18 months of age. Most parents will report no difficulties prior to this period, but some may observe a “different interactive,” eye contact or socialization impairment, lack of pleasure with regard to being touched, or other unusual behavior from as early as 1 to 3 months of age, in extreme situations.
Typically, kids with ASD will not get diagnosed initially. The statistics indicate that only about 10% of kids with autistic disorders get diagnosed following the initial complaint of the parents that “something is wrong” with their child.
At the onset of symptoms, when the child regresses, several difficulties may appear. There is loss of eye contact, the child drifts into his own world, may sit quietly for prolonged periods of time, and develops pervasive ignoring of other people. This means that he may be called several times, even very loudly, and ignore the calling as if he is deaf, yet when he hears even the slightest sound of something he likes, such as song from a favorite video, he runs to it immediately. Some of the kids develop hand flapping, toe walking, and severe temper tantrums, especially when required to change from a favorite activity to some other activity. Arranging toys in rows, spinning themselves or objects, or showing fascination in spinning objects, straight lines, or trains is a common behavior.
Language delay or lack of language may be expected. Language may be replaced by some unusual, infantile squeals or shrieking, and repetitive, unintelligible gibberish may occur. Once language has developed, repeating heard words is common. For instance, instead of answering the question “What’s your name?” a child will repeat the question and say, “What’s your name?” Other unusual use of language may be present including perseveration into a certain sentence or television commercial that is repetitively said out of context and without having any communicative purpose. Some children are becoming interested in numbers or letters and some may even read fluently from a very young age of 2-4 without being able to talk communicatively or understand what they read. A savant ability or restricted skill, superior to age group, such as math, reading, or drawing skills in a toddler, may develop.
Many of the children who have ASD may be also hyperactive. Some may be very difficult to control due to their hyperactivity and temper tantrums, and some are “very easy” because they may sit for hours without requiring special attention or stimulation from their caregivers.
Some children in ASD may be so hyperactive that their hyperactivity overwhelms the clinical picture therefore resulting in a misdiagnosis as AD/HD, overlooking some significant difficulties related to the ASD aspect of the condition. In a situation where there is a coexistence of ASD and AD/HD symptoms, the combined ASD and AD/HD diagnosis may be considered. Unlike the DSM IV, the DSM V permits the coexistence of both conditions in the same individual.
At an early point, many parents deny the problem and since they are told that language will develop later, that “some kids are late bloomers,” the initial concerns become suppressed. A typical problem that develops at this point is that parents give in to temper tantrums. This in turn develops a “pathologic” situation, where instead of the parents teaching their abnormal children normal socially accepted behavior, the entire family “learns” the abnormal behavior from their affected children. This causes the child to lose his chance of being appropriately directed into socially accepted behavior from early on, as should be done.
As a rule, parents who change their normal behavior in order to accommodate their children’s abnormal behavior are doing a severe disservice to their children and to themselves. The correct approach must include a firm, strict discipline to correct all their child’s abnormal autistic behavior (see behavior modification). Typical mistakes in this regard include letting the kids run around with food because they refuse to sit by the table, allowing their children to carry an exaggerated variety of objects or toys everywhere they go in order to pacify them, letting their kids get away with holding their bottles or pacifiers, or refusal to eat certain consistencies of foods in order to keep the peace and prevent temper tantrums.
In the long run, however, tantrums are unavoidable because there is a point where the parents cannot keep up with their children’s unreasonable requirements, and if the response of the parents to the unreasonable request is not fast enough or not complete enough, the tantrum will occur. The best way to stop the tantrums right from the onset is to help the child adjust to the requirements of society. In the long and short run, it is wiser and more effective to “change the child” in order for him/her to “fit the world,” rather than “change the world” (or home environment) to fit the child’s abnormal behaviors. The wrong approach will lead to immediate, extreme clashes between the child and school once he/she leaves the home.
The presentation of children with ASD, as described above, may be variable and may include different types of unusual behavior as listed on the ASD assessment scale questionnaire. Most commonly, the diagnosis will be a mild form of ASD. Children with a more severe form may, however, present earlier.
The questionnaire available below is an experimental screening tool based on the DSM-V criteria for ASD.
To take the ASD questionnaire, use the link below and open the separate page for the questionnaire. There are links on the page that define the grading and scoring to help you decide on the correct answers. After answering all questions, you click on “Score” at the end to reveal your score.
Once you have answered all questions and the score appears, you should print the page and bring the results to the physician appointment as one tool for discussing symptoms. The score is NOT indicative of a definitive diagnosis by itself.
Children with social dfiulties as well as verbal and on verbal communication problems, who may have previously qualified for the diagnosis of PDD, NOS or Asperger’s disorder, yet do not meet the DSM V criteria for ASD.
Social or communication disorder causing a significant impairment in function, but criteria for social pragmatic communication disorder are not met.
In every child who has any type of speech delay, the question of ASD must arise. Recent recommendations by the American Academy of Neurology (AAN) specify some general early guidelines in that regard. These include:
Several speech developmental screening and rating scales are suggested by the AAN but the above guidelines cover the vast majority of children that require a more specific evaluation.
The causes for ASD are most likely genetic. In most kids who present with a mild form of ASD, despite a very extensive workup that may include blood test, urine tests, imaging studies, and other tests, everything comes back normal. The general consensus is that ASD is a genetic disorder that sometimes can’t be identified in current genetic testing. This may never become specifically identified because ASD may represent a variety of genetic abnormalities.
Identified causes for ASD include several chromosomal abnormalities involving different “genetic sites.” Fragile-x syndrome involves the x chromosome, Angelman’s syndrome involves chromosome 15, and many other chromosomal abnormalities may present with “ASD.” Other disorders such as Touberouse sclerosis, a disorder causing skin and brain abnormalities and frequent severe epileptic seizures (chromosome 9 and 16) may present with “ASD” also. Some “metabolic disorders” such as PKU (phenylketonuria), where a substance (phenylalanine) accumulates in the brain, and other disorders of metabolism may present with ASD.
Another important condition that may cause ASD is a form of a seizure disorder or Laundau Kleffner syndrome. This disorder, also known as acquired epileptiform aphasia, is a disorder in which non convulsive seizures, which occur mainly at night, may “rob” a child from previously acquired speech. This is an important diagnosis, because some treatments may effectively help it.
According to the recent recommendation of the American Academy of Neurology, almost no tests at all are required for most children with mild ASD. Specific testing should be considered according to the specific finding on history or examination.
A hearing test is indicated for all children with any type of speech delay or evoked potential testing (brainstem auditory evoked responses, BAER) for hearing evaluation. Specific developmental testing should also be performed, including an IQ test if indicated.
Lead level should be checked mostly in children who have PICA, where “everything goes to the mouth.”
A high-resolution chromosomal analysis is suggested in these children where indicated, mostly to detect Fragile-x, the Prader Willi, or Angelman’s syndromes. This is mostly performed when the child looks dysmorphic (unusual), or the head size is small (microcephally).
Not routinely suggested and should be considered when a regressive pattern is suspected or other clinical evidence leads one to suspect such a disorder.
An EEG is a brain wave analysis. It is suggested in those who have a regressive pattern to rule out Laundau Kleffner syndrome or other forms of seizures.
Not routinely suggested, imaging should be considered if Touberouse sclerosis is suspected or other structural brain abnormalities are considered.
The following tests are not suggested on a routine basis: hair analysis, celiac antibodies, allergy testing and fungal immunologic, neurochemical micronutrients, and vitamin testing. Also stool, urine analysis, thyroid, lactic acid, or other sophisticated specific metabolic testing maybe be avoided.
The best treatment for ASD must combine several disciplines – behavioral, developmental, academic, and medications. The treatment must be customized to each individual child’s requirements and must follow the general principle of trying to achieve the best possible functional ability using the available resources as needed.
Behavioral modification may be very helpful. Children with ASD may assume a wild behavior that if not corrected may lead to severe, life threatening behaviors that may require extreme measures. Early strict behavioral modifications may prevent future use of medications and institutionalization.
Parents must remember! If the family changes their normal behavior and assumes abnormal routines (in order to accommodate to the child’s abnormal behaviors and prevent his temper tantrum), instead of the family teaching the child normal behavior, the entire family becomes behaviorally disrupted and the child with ASD loses his chance to learn normal, socially accepted behavior.
Behavioral modification is effective if strictly applied and should be directed at correcting everything that is abnormal in the child’s behavior, and that is potentially correctable. (See next section on behavioral modification.) Other behavioral and developmental treatment disciplines include ABA, speech therapy, occupational therapy, and special education.
Occasionally, physical therapy may be helpful in some kids with ASD who also suffer from hypotonia (low muscle tone) or other physical impairments.
Medications for ASD are utilized as required, directed at specific treatment goals. One must take into consideration the fact that children with ASD may react unexpectedly and differently than expected to any medications used. Kids who also suffer from hyperactivity (a common combination) may benefit from stimulants (Adderall, Ritalin, Dexedrine) as indicated in our AD/HD section of the site. These may reduce hyperactivity and improve the attention span in children with ASD as well.
Children who have a lot of obsessive-compulsive symptoms (OCD) may benefit from SSRI (selective serotonin reuptake inhibitors). Available in the US in liquid form are Prozac, Paxil, and Celexa. Others include Lurox and Zoloft. These are antidepressants that also have a benefit in treating OCD by increasing serotonin concentration in the brain. These medications were studied and have shown a statistically significant improvement in some autistic symptoms compared to placebo. Some children, however, become more restless when exposed to the SSRI’s. Still, these may be considered some of the safest, most beneficial medications to try.
Major tranquilizers are used in children that have very erratic, disruptive, dangerous behaviors. If prescribed at night, this may help with sleeping difficulties. These medications include Risperidal (liquid form), Zyprexa, Abilify, Melleril, Haldol, and Seroquel. One must use these with caution and look out for some side effects. Weight gain is a very common side effect. Somnolence or drowsiness may also occur. Rare long-term side effects include tardive dyskinesia, a movement disorder involving the oral muscles, tongue, and extremities. This may be irreversible. Changes in liver enzyme counts have also been reported.
Other medications, including some traditional antidepressants, anti-anxiety medications, and combinations of some anticonvulsants have also been used for ASD but less commonly.
Other different treatments such as auditory integration training, vitamin and mineral treatments, and secretin injections have been anecdotally reported to be helpful, yet were never proven to make a difference and are not recommended by the American Academy of Neurology; therefore their use is controversial, and not recommended. One must remember that some kids with ASD improve “spontaneously” without any apparent treatment. This makes it difficult to decide whether the improvement was related to a treatment or occurred spontaneously, unless studies are done in a controlled fashion and compared to placebo. Unfortunately, none of the controversial treatments wer ever proven effective in a scientific fashion.
Behavioral modification program for a child with ASD:
This behavioral modification program is based on training the child to behave in a more appropriate and socially accepted manner. This should consist of an immediate correction of any aberrant behavior, utilizing a special holding technique to overcome temper tantrums. Many of the most difficult behaviors, if dealt with early, may become controlled, or if neglected, may lead to a wild, impulsive, uncontrollable behavior that may require institutionalization. In many families of children with ASD, instead of the children being taught normal, socially accepted behavior, the entire family learns abnormal behaviors from the kids in the process of trying to accommodate them to prevent the temper tantrums. This is why controlling the tantrums is so important. Accommodating these kids by giving in to the abnormal behaviors only delays the tantrums and makes the abnormal behaviors the accepted standard for those children with ASD.
A structured daily routine is important. The child will perform best under familiar conditions, including location and activities. Later, as the situation improves, the rigid routine may be gradually modified, as tolerated.
Controlling temper tantrums is of extreme importance. The holding technique, as demonstrated during the office visit, requires a gentle, yet firm hold of the child, with the back to the parent’s chest; the child’s legs should be held between the parent’s legs. During the holding time, the parent must try to communicate with the child, calm him/her, yet not give in to the behavior that led to the tantrum. This procedure is not a form of punishment. It is devised to protect the child and others from the erratic behaviors. It must be done gently, not to hurt the child, yet firmly to get a clear unequivocal message through. It definitely is not meant to be “fun” time and a firm approach is required. Communication must be short, clear, and firm, expressing the parent’s appropriate emotional reaction to the behaviors that led to the tantrum. The reaction (firmness of communication) must be proportionate to the severity of the behavior. This will also teach a child whose ability to understand emotional responses are impaired, how one must react under different circumstances. The main objective of the holding and the behavioral modification program is to correct inappropriate behaviors, thus trying to normalize the child’s routines and behavior, including all social interactions as much as possible.
There are three priorities, when it comes to “insisting” with a child over behavioral issues.
The holding technique is very important and constitutes the frame structure for the behavioral modification program. The holding should be done with compassion, not trying to hurt the child, but helping him/her to adjust to a difficult situation. This is not a form of punishment. Only one parent should communicate with a child while being held. One parent holding, while the other is smiling and trying to console the child, will cause confusion and the wrong message to come through.
The behavioral modification teaches the child to acquire a more socially acceptable behavior, thus giving him/her a better starting point, to enter life’s social requirements, compared to a child who still remains with all the attended social, behavioral difficulties associated with ASD.
Communication must be short, clear, loud (not yelling). Many children with ASD have auditory integration difficulties. Talking to them excessively will not be registered and may sound to them like gibberish. Therefore, communication must be very simple and to the point, leaving time between words to integrate the information. Eye contact must be worked on. As the child improves, communication may become more fluent and elaborate.
Never smile or regard inappropriate behavior as cute or funny. Some behaviors as pulling a parent to different locations must be discouraged. Facial expressions by the parents must be appropriate and sometimes exaggerated to teach the socially appropriate way of expressing emotions. Proper attempts by the child to communicate must be encouraged and pursued.
The behaviors of individuals with ASD may differ in many aspects. Each child has his own strengths and weaknesses. A good behavioral modification must be customized to each child’s specific needs. The principle of correcting inappropriate behavior, however, applies to all.
The most regular, highest functioning environment, including a regular educational system, should be attempted whenever possible. This, with independent supplementation of all the other needs, including speech therapy, occupational therapy, and physical therapy, if needed, will result in the most favorable outcome. When a regular educational system is unrealistic, each community may offer different options. The parents should individually and personally check these options. Once in the program, I do encourage parents to come in and observe first hand the quality of services provided, and how the child fits in. You have to give it some time, but remember, be a strong advocate for your child. There is no program that fits exactly the individual needs of every child with ASD, therefore sometimes you may have to use your creativity, based on the knowledge of your child, to obtain the best solution. Rarely, you may have to actively pull your child out of a program if he/she does not fit and seems to regress, and find a better alternative. Parents must, however, be realistic about the child’s potential.
No one can clearly determine the final outcome of a child with ASD. Do not give in. Have realistic expectations yet try to push him/her as much as possible. Try to demand from your child to behave like any other regular child and regard them as such. Do not let the child “get away with things” because he/she is autistic. If your expectations are set too low, it may impair the final outcome. On the other hand, when it is clear that a child cannot perform a certain task, know where to stop. The right balance may be sometimes difficult to determine.
The “A” word and the social stigma: The public and some professionals, unfortunately, lack education when it comes to ASD. Do not deny the problem, try to educate yourself and deal with the specific difficulties. On the other hand, keep the diagnosis private, if possible, to prevent expectations from educators and the public in a way that may eventually affect your attitude and opinion as well. This applies to mild cases of ASD.
Different modalities are available. Some are controversial, some clearly ineffective. There are no studies that unequivocally demonstrate beneficial results from vitamin or diet therapy, but there are some anecdotal reports falsely supporting many modalities. Contrary to this, there are reports of improvement without any “therapeutic” intervention.
Modalities that can be considered should be free of side effects. Auditory and sensory integration training, when done properly, benefits certain children with ASD. Other modalities are discussed in the ASD package. To receive a package, you may call 1.800.3AUTISM or link to the Autism Society of America website.
Medications should be directed at specific goals. Stimulants (Ritalin, Dexedrine, Adderall ). SSRI’s (Prozac, Zoloft Paxil and Luvox). At times, neuroleptics are used (Mellaril, Risperidal, Zyprexa) or tricyclics (Tofranil) may be helpful. Other medication options can be discussed with an experienced physician as new treatments may become available.
The long-term outcome for ASD is variable. It is difficult to determine during the first visit of a 1 to 2-year-old child what his future ability will be. It is however clear that this is a life long disorder that will leave its impact one way or another on the individual’s life. The most important prognostic factor is the I.Q. ability of the child. Also, the degree of social interaction impairment and lack of appropriate communication early on correlates with the severity of the outcome. Early intervention that includes behavioral modification and speech therapy may also change the outcome positively. The most accurate predictor of outcome, however, is the progression over a period of about 1 year from early diagnosis. Those with mild ASD and few autistic features may do remarkably well. Some other factors, such as associated comorbid disorders like depression, anxiety, and severe OCD may have a significant impact on outcome.
Some conditions may be confusingly similar to ASD and one must be careful when making a final determination about a child’s disorder and its management. Any condition that may be associated with language delay, especially those that are treatable, must be considered.
Every child with a language delay must have a hearing test. A child with a hearing impairment will not have the autistic features as mentioned by the DSM V criteria, but may present with “pervasive ignoring,” production of unusual sounds, “poor eye contact” because he can’t coordinate his eyes to the direction of the sound, some temper tantrums due to the frustration caused by the lack of the ability to express his needs, and some other features. These kids however, will never fully qualify for the full diagnostic criteria of the ASD and this is a reason why a diagnosis can’t be based on only a part of the diagnostic requirements. A patient with deafness who is appropriately treated will make a rapid recovery of his lost language if treated early. For this reason, a hearing test is always important to obtain in a child with a speech delay (even if the parents think he can hear) because the hearing loss may be partial or selective to different frequencies. Many children with ASD will have some pervasive ignoring of other people that may render a conventional hearing test ineffective. These children will benefit from having a BAER (Brainstem Auditory Evoked Response) where electrodes register the brain’s response to sound delivered by earphones to the child. In most situations, this test will have to be performed under sedation.
This is a rare condition in which children, mostly older than 3 years of age but occasionally younger, develop seizure activity that includes seizures involving the left hemisphere (the speech areas) and nocturnal status epileptics. These kids commonly, but not always, present with convulsive seizures and have associated autistic regression and loss of acquired speech. Because of that, it is recommended to obtain an EEG (sleep deprived or 24 hour recording) on those autistic children who have a history of loss of acquired speech and behavioral regression. This condition can be successfully treated with anti-epileptic drugs and ACTH.
Another condition that may mimic ASD is mental retardation. It may present with speech delay and if severe enough, self-stimulatory behaviors and other “autistic characteristics” may be associated.
This is rare and may mimic ASD. This condition usually develops after 5 years of age is associated with a higher I.Q. score (more than 70) than what is found with ASD.
The school system is not always geared to deal with the special needs and apply the special modalities required in the management of an autistic child or children with ASD. That includes lack of specific experience, the unavailability of ABA or proper behavioral modification programs.
In many circumstances, children with ASD are placed with a bulk of kids who have a speech delay for other reasons including mental retardation or hearing loss. Services may be unavailable in some areas. In our area, however, more and more institutions are specifically geared to deal with ASD and parents must educate themselves with regards to where a child may be placed. In some circumstances, improvements may be observed due to an excellent interaction between a child and a therapist regardless of the specialization of the school. My general guideline is to try to find the highest functioning environment into which the child may fit and enhance his abilities with extra speech therapy and, of course, behavior modification. In the future, as more awareness, resources, and knowledge are directed toward ASD, more choices and management modalities will become available.