PDD/ Autismo
Un Acercamiento Claro y Práctico para los Padres.
PDD/ Autismo
Un Acercamiento Claro y Práctico para los Padres.
El Doctor Grossmann ha proporcionado esta sección PDD/Autismo de nuestro sitio Web como un recurso claro y práctico para pacientes y sus familias quiénes viven con una de las varias formas de PDD:
Por favor use los eslabones de abajo para tener acceso a varias páginas de la guÃa de PDD escrita por doctor Rami Grossmann.
PDD or pervasive developmental disorder is a behavioral disorder of speech, communication, social interaction, and repetitive type compulsive behavior. Autism is a form of PDD. There are five types of PDD's. The most commonly encountered are PDD NOS (pervasive developmental disorder not otherwise specified), childhood autism, and Asperger's syndrome. All these "different" conditions have common diagnostic and physiologic features but differ slightly by the specific diagnostic criteria. (See The DSMV IV criteria for autistic disorders).
2. How is PDD or autism diagnosed?
The diagnosis of PDD is clinical, meaning "what you see is what you've got." One needs to meet specific diagnostic criteria for the different conditions, 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 PDD NOS in the milder situations and for the other autistic conditions in the more severe presentations.
At times, especially when diagnosed early, it may be difficult to predict what the final outcome will be. Even though PDD's are life long disorders, 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 autism is looking at the PDD assessment scale questionnaire. In order to qualify for an autism 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 differentiation to the five different subgroups is provided by the DSM IV criteria for the autistic disorders.
3. The DSM IV criteria for the autistic disorders
The full diagnostic criteria for the pervasive developmental disorders are outlined below. As mentioned above, the diagnostic criteria for the autistic (PDD) disorders are defined by the DSM IV criteria.
4. A short review of the different PDD's
There are five types of PDD's.
This section will give general guidelines, providing a superficial understanding of the differences between these above-mentioned disorders. A better, more specific understanding of these disorders is given by the specific DSM IV criteria for each disorder.
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 DSM 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."
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.
C. Childhood disintegrative disorder
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 (some people argue that these conditions should be combined as one), 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.
5. How does a typical child with autism present?
Most kids with PDD's 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 PDD's 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 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 is common. 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 without being able to talk communicatively. 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 PDD may be also hyperactive. Some are very difficult due to their hyperactivity and temper tantrums and some are "very easy" because they sit for hours without requiring special attention or stimulation from their caregivers.
Some children in PDD NOS 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 PDD aspect of the condition. In a situation where there is a coexistence of PDD and AD/HD symptoms, the PDD diagnosis prevails. Per definition (see DSM IV criteria for AD/HD), the existence of PDD rules out the diagnosis of AD/HD. This is not to indicate that children with PDD will not respond to the same medications used for AD/HD to manage their hyperactivity.
At an early point, most parents deny the problem and since they are told that language will develop later and "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 will be easier to change the child's behavior rather than "change the world" and society to adjust to the child's abnormal requirements.
The presentation of children with pervasive developmental disorders, as described above, may be variable and may include different types of unusual behavior as listed on the PDD assessment scale questionnaire. Most commonly, the diagnosis will be PDD NOS or a mild form of autism. Children who are more severe may present with childhood autism as described above and by the DSM IV criteria.
Asperger's syndrome will present with better language skills and the presence of a restricted interest and "savant ability," where the child has genius abilities in a restricted field yet is impaired from the social aspect and seems odd or "socially inept." As they grow up, these kids have frequent social difficulties, mostly related to their inability to clearly understand how other people perceive their behavior, facial expression, tone of voice, and communication in general. They also have difficulties expressing their own emotions in a correct way. This causes them to be considered "strange" and may result in their inability to benefit from their talent because of this social impairment.
6. The PDD assessment scale/screening questionnaire
The questionnaire available below is an experimental screening tool based on the DSM-IV criteria for autism which states that to be diagnosed as autistic, one must meet the following criteria:
To take the PDD 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.
7. Who should be evaluated for autism or PDD?
In every child who has any type of speech delay, the question of autism or PDD NOS must arise. Recent recommendations by the American Academy of Neurology (AAN) specify some general early guidelines in that regard. These include:
8. What are the causes of autism?
The causes for autism are most likely genetic. In most kids who present with a mild form of autism, such as in PDD NOS, 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 autism and PDD NOS are genetic disorders that can't be identified in current genetic testing. This may never become specifically identified in the future because "autism" is a general term of a behavioral pattern that may be caused by several different genetic abnormalities. This means that different genes or different combinations of defective genes may result in the same presentation of PDD NOS or autism.
Identified causes for autism 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 "autism." 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 "autism" also. Some "metabolic disorders" such as PKU (phenylketonuria), where a substance (phenylalanine) accumulates in the brain, and other disorders of metabolism may present with autism.
Another important condition that may cause "autism" is a form of a seizure disorder or Laundau Kleffner syndrome. This disorder, also known as acquired epileptiform aphasia, is a disorder in which seizures develop from the area responsible for speech (in the left hemisphere), "robbing" the child from acquiring language and is associated with an autistic regression.
9. Laboratory testing, medical consensus guidelines
According to the recent recommendation of the American Academy of Neurology, almost no tests at all are required for most children with mild autism or PDD NOS. Specific testing should be considered according to the specific finding on history or examination.
Hearing Test
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 Test
Lead level should be checked mostly in children who have PICA, where "everything goes to the mouth."
Genetic Testing
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).
Blood Metabolic Testing
Not routinely suggested and should be considered when a regressive pattern is suspected or other clinical evidence leads one to suspect such a disorder.
EEG
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.
Imaging (Head CT or MRI)
Not routinely suggested, imaging should be considered if Touberouse sclerosis is suspected or other structural brain abnormalities are considered.
Tests Specifically Not Suggested on a Routine Basis
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.
10. What is the best treatment for autism?
The best treatment for autism 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 autism 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 autism 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, 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 PDD's who also suffer from hypotonia (low muscle tone) or other physical impairments.
Medications for autism are utilized as required, directed at specific treatment goals. One must take into consideration the fact that children with autism 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 PDD's 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 on treating OCD's by increasing serotonin concentration in the brain. These medications were studied and have shown a statistically significant improvement in some autistic symptoms compared to placebos (fake medicine). Some children, however, become more restless when exposed to the SSRI's. Still, these may be considered some of the safest 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, 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. Liver dysfunction has also been reported.
Other medications, including some traditional antidepressants, anti-anxiety medications, and combinations of some anticonvulsants have also been used for autism 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. One must remember that some kids with autism 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 PDD:
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 PDD, 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 PDD.
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 trains the child to acquire more 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 PDD.
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.
Modalities that can be considered should be free of side effects. Auditory and sensory integration training, when done properly, benefits certain children with PDD. Other modalities are discussed in the PDD package. To receive a package, you may call 1.800.3AUTISM or link to the Autism Society of America website.
12. Prognosis (long term outcome) of autism
The long-term outcome for autism 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 PDD and few autistic features may do remarkably well.
13. Differential diagnosis for autism
Some conditions may be confusingly similar to autism 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.
Secretin is not medically approved for the treatment of autism. The medical literature currently contains a single standardized study by Dr. Sandler (New England Journal of Medicine, Dec. 1999) that has shown no benefit following a single dose of secretin injected to children with autism or pervasive developmental disorders. This is in complete contrast from another study by Dr. Horvath, a gastroenterologist, who gave secretin to three patients and described a "dramatic" improvement in the behavior of all his injected patients (Journal of Associated Academic Minor Phys. 1998).
So what is the truth? The truth, as in many circumstances, is probably somewhere in the middle.
My experience is based on injecting about 70 children affected by PDD with secretin according to the protocol suggested for pancreatic testing by the PDR (Physician's Desk Reference). My patients were closely followed with the autism rating scale and according to their parents' observation.
The results indicated that although about 75% of parents reported some initial good results to the injection, only about 10% of the children have shown "dramatic" and "difficult to argue with" results. The duration of the effect is also variable in those who are very good responders. Some continue to gradually improve. An example is "patient B" who was a 4 * year old with PDD NOS and no language at all, extremely restless and hyperactive, who one month following the injection was able to sit and communicate in short sentences, was much calmer and had an improved eye contact following two more injections. He did very well and now does well in the regular education system.
Others such as "patient J" have a good response lasting for about 1 * to 4 months following the injections, after which the autistic feature starts reappearing. In the case of "patient J," he becomes restless, compulsive, and regresses into his own world and loses communication skills about 2 months following each injection. After receiving his secretin, he calms down, interacts better, and has less compulsive, ritualistic behavior. The changes are clearly noticeable including by the school personnel that are not informed about the injection schedule. "Patient J" received a total of 6 injections and is tolerating secretin without any side effects. Except for some occasional transient 5 to 10 minute rashes, no significant side effects were reported.
The issue of secretin must be explored further, with larger scale studies and specifically in those children who are "claimed responders," trying to inject them with placebo versus secretin to determine "true response." If true response is determined, further investigation of the mechanism of action of secretin in these particular children should be studied.
At this time secretin should not be recommended for the treatment of autism and parents shouldn't be given false hopes that this will cure the children from a devastating condition; however, the anecdotal experience is such that one may understand the desire and show compassion to those who want to try this treatment for their children. Long-term safety studies are also important. All these implications must be considered by those (physicians and parents) who want "to try" secretin or any other unusual treatment modality.
15. PDD and the educational (school) system
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 PDD NOS. That includes lack of specific experience, the unavailability of ABA or proper behavioral modification programs.
In many circumstances, children with PDD 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 PDD 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 PDD's, more choices and management modalities will become available.
16. Associations related to PDD/ Autism (Links)
Home | Contact Us | Neurology Glossary
146-01 45th Avenue
Suite 401
Flushing, NY 11355
[map]
Content Copyright © 2000-2004 Rami Grossmann, M.D. - All rights reserved.