Prognosis of Autism(s)

On June 16, 2009, Qsac held its annual workshop for parent and professionals at the Sheraton La Guardia Hotel. A group of experts on autism discussed the complexity of social behavior in autism, screening, diagnosis and treatment strategies, applied behavior analysis and discrete trial training. During a panel, one of the participants asked a question about the prognosis of autism. This is a very challenging question because of the heterogeneity within the autism diagnosis, which affect our ability to develop an effective treatment and prognosis. Autism is a neurodevelopmental disorder that has been defined exclusively on behaviorally based symptom domains of impairments in social interactions and communication, and repetitive or stereotypical behaviors (DSM-IV-TR, APA, 2000). The neuropsychiatric component of autism is not part of the DSM-IV-TR classification and criteria.

From a clinical point of view, the diagnosis have shown a range of variability in the core symptom domains, including a low to above normal IQ, and low to high functioning in school (Bailey et al., 1998; Spence, 2001; Silverman et al., 2002; Folstein et al., 1998; Spiker, 1999; Beglinger and Smith, 2001; Spiker et al., 2002)

In terms of the research studies, we can observe a lack of consistency and uniformity. Although autism disorder is under the “pervasive developmental disorder” (PDD) classification in the DSM-IV-TR, due to the variability in the autism phenotypes, severity, associated symptoms and causality, some researchers prefer to talk about autism spectrum disorder instead of PDD.

According to Miles and colleagues (2005), some genetic studies have focused on the correlation of genetic indicators with behavioral symptoms, cognition, and core symptom domains such as language impairment.

Miles and colleague (2003, 2005), defined autism spectrum disorder from a genetic etiological point of view into two subgroups, (1) Idiopathic, in which no cause can be identified and represents 90-95% of the cases with autism; and (2) Secondary, in which chromosome abnormality, single-gene disorder or environmental agents can be identified and represents 5-10%.

Idiopathic autism can be divided in (a) complex autism and (b) essential autism. The complex autism is characterized by the presence of a significant number of physical anomalies, lower male to female ratio and / or microcephaly in 5-15% of cases; they scored with lower IQ, experience more seizure and /or abnormal EEG's and more abnormal findings, and represent 20-30% of the autistic population. The essential autism is characterized by no evidence of abnormal structure during development [morphogenesis] and represents70% of the autistic population.

The essential and complex groups are relatively easy to identify clinically, and appear to differ in their outcomes, recurrence risks, sex ratios, and family histories (Miles et al., 2000, 2003, 2005.) For instance, the ratio of males vs. females in essential autism is greater than in individuals with complex autism (6.5:1). This classification of autism between complex and essential autism helps to clarify the etiologic heterogeneity within the autism spectrum disorders. However, until we separate the genetic indicators of the behavioral autism, it would be very difficult to understand the prognosis of autism spectrum disorder.

The prognosis will vary depending of the phenotype features of the autistic disorder [e.g. the observable physical or biochemical characteristics of an individual, as determined by both genetic makeup and environmental influences.] For instance, the prognosis of an autistic individual with idiopathic autism may be better than an individual with secondary autism; an individual with idiopathic autism-complex may have a worse prognosis than an individual with idiopathic essential-autism. This classification between idiopathic and secondary opens a debate about the heterogeneity and clinical variability of autism, which has prompted some researchers to use the term Autisms instead of autism (Pardo & Eberhart, 2007; Miles & Hillman, 2003; Herbert, 2003, 2005.)

To talk about the prognosis of autism becomes more complex since some research evidences have pointing out the genetics alone do not determine the entire Autism Spectrum Disorder, it is only a risk, and non-genetic factors are playing an important role as modifiers of processes determined by genetic susceptibility (e.g. environmental and epigenetic factors) (Pardo & Eberhart, 2007; Hebert, 2004, 2005.)

The prognosis of autism(s) would be better understood when researchers are able to determine the different variations in autism(s) and their genetic-environmental-timing influences.

Autism Genes Implicated in Early Neural Development Discovered

Two recently published studies – the results of collaborative efforts of researchers from more than a dozen institutions, and led by Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia – have identified genes with important contributions to autism. One study pinpoints a gene region that may account for as many as 15 percent of autism cases, while another study identifies missing or duplicated stretches of DNA along two crucial gene pathways. In total, they analyzed DNA from 12,834 subjects. Significantly, both studies detected genes implicated in the development of brain circuitry in early childhood.

Because other autism researchers have made intriguing suggestions that autism arises from abnormal connections among brain cells during early development, it is very compelling to find evidence that mutations in genes involved in brain interconnections increase a child's risk of autism,” said study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics at The Children's Hospital of Philadelphia. By using highly automated genotyping tools that scan the entire genome of thousands of individuals, the researchers found that children with ASDs were more likely than healthy controls to have gene variants on a particular region of chromosome 5. Neuronal cell-adhesion molecules are important because they affect how nerve cells communicate with each other, thought to be an underlying problem in ASDs.

“Although we cannot immediately apply this research to clinical treatments, these findings increase our understanding of how autism spectrum disorders arise, and may in time foster the development of strategies for prevention and early treatment,” said developmental pediatrician Susan E. Levy, M.D., a co-author of both studies who is the medical director of the Regional Autism Center and a member of the Center for Autism Research (CAR), both at Children's Hospital.

Geri Dawson, Ph.D., chief science officer for Autism Speaks, appeared on the CBS Evening News and ABC World News on Tuesday, April 28, to discuss the studies. View the CBS story here and the ABC story here.

Inclusion Program for Students with Autism: A Controversy

Inclusion is a term coined to describe the notion that students with disabilities including individuals with autism can or should be educated in the general education classrooms (mainstream of public education) despite of the severity of disabilities.

The debate about the inclusion of students with disabilities in general education settings started 1975 when the US Congress passed the Individuals with Disabilities Education Act (IDEA – Public Law 94-142, 1975 formerly: Education of All Handicapped Children Act). This law established that all children with disabilities would receive a free appropriate public education designed to meet each student’s special needs. In 1986 the Regular Education Initiative (REI) called for placing students with disabilities into regular education classrooms. Rapidly, a division emerged among REI supporters, one group considered that REI should be for students with mild disabilities and alternative settings outside of the general education classroom should remain for individuals with severe and profound disabilities. On the other hand, another group felt that all students with disabilities should be included in general education classrooms regardless of disability type or severity level (Reynolds, et al., 1987; Lipsky and Gartner, 1989; Buell et al., 1999; Pivik at al., 2002).

The controversy has continued among both general and special educators despite the 2004 version of the Individuals with Disabilities Education Improvement Act, which has made the general education classroom the primary placement for students with disabilities including students with Autism Spectrum Disorders. In order to resolve this debate, Dr. de Boer & Simpson (2009) exhort that general and special educators should develop an integrated system of inclusion as a continuum of placement and service options that meet the needs of students with disabilities.

Dr. de Boer & Simpson (2009) commend that to design an appropriate and successful inclusion program for students with Autism Spectrum Disorders represents a challenge for the educational system.

An inclusion program is not simply to place students in the general education classrooms. For instance, students with autism are very complex in their disabilities. Some are non-verbal or with verbal delays or echolalic speech with severe cognitive or learning impairments; others function at a level of students in the general education classrooms. Students within the spectrum present deficit in adaptive behavior skills, self-care or self-help skills (e.g. toileting, sleeping, eating bathing dressing) and challenging and stressful problem behaviors (e.g. aggressive behaviors toward others, self-injurious behaviors, hyperactivity or psychomotor agitation, non-compliance behaviors with instructions, property destruction, stereotypic behaviors, inattention, obsessive-compulsive behaviors with objects, activities or routines). Moreover, individuals with Autism Spectrum Disorders have motor and physical challenges (e.g. difficulties with gross and fine motor skills) and sensory sensitivities (e.g. hyper or hyposensitivity to some stimuli: sight, sound, smell, touch, body position and movement) (Simpson, de Boer, Smith-Myles, 2003; Mesibov and Shea, 1996; de Boer & Simpson, 2009).

Educate students with Autism Spectrum Disorders requires thorough knowledge and understanding of the challenging conditions such as cognitive, social, sensory, communicative and behavioral deficits. Without an appropriate training in autism and a clear educational model by administrators, educators, school personnel and parents, the implementation of inclusive educational program for students with autism will not achieve the ultimate goal of developing their full potential (ASA, 1994).

The inclusive education programs have become more prevalent within the public school system and we have made some progress in the tri-state area [NY, NJ, and CT] preparing teachers to work with students with autism. But unfortunately, it seems that our educational system is not ready yet to implement a successful inclusion program for students with Autism Spectrum Disorders due to the lack of teachers’ training and knowledge, limited research and resources and negative attitude toward teaching students within the Autism Spectrum Disorders (Simpson, de Boer, Smith-Myles, 2003; de Boer & Simpson, 2009).

A successful inclusive education program for students with Autism Spectrum Disorders is a challenging and demanding process which should require special training and collaborative efforts for general and special educators, paraprofessionals, administrators and parents (Zager, 1999). Despite of the controversy, a full-time inclusion for all students with Autism Spectrum Disorders, which means that “students with special needs can and should be educated in the same settings as their normally developing peers with appropriate support services”, does not seem to be appropriate for all autistic children. Mesibov and Shea (2005) suggest that we do not have the enough empirical evidence for this approach. In addition, parents’ perceptions toward inclusion for their children with autism are divided (Kasari et al. 2004). It seems that a continuum model of placement and service options should be the answer (de Boer & Simpson, 2009). For more than two decades, TEACCH program has been offering appropriate educational solutions for students with Autism Spectrum Disorders in the public schools (TEACCH program).

A good resource to inform yourself of this topic is the book, Successful Inclusion for Students with Autism: Creating a Complete, Effective ASD Inclusion Program by Dr. Sonja R. de Boer & Richard L. Simpson (2009). It offers practical solutions and “a wealth of helpful forms, checklists, and handouts that will assist with implementing the inclusion program and ensure that all involved have the information necessary to make the program successful”.

Learning Websites for Children with Autism

The following websites are wonderful resources for your children, especially the ZACbrowser, the first web browser developed specifically for children with autism.
Special thanks to Suzanne Prestigiacomo, a parent who helped me put list this together.


www.zacbrowser.com - ZAC is the first web browser developed specifically for children with autism, and autism spectrum disorders such as Asperger syndrome, pervasive developmental disorders (PDD), and PDD-NOS. We have made this browser for the children - for their enjoyment, enrichment, and freedom. Children touch it, use it, play it, interact with it, and experience independence through ZAC.
www.sensoryworld.org – Interactive place learning that is fun, stimulating, relevant, appropriate and responsive.
www.videoplaylist.org - Perfect for parents and caregivers of autistic children as it allows you to create your own playlist from available youtube videos that launches from your own webpage supplied by them - adfree webpage! Then you can simply click on the link on the left and the video plays.
www.babybumblebee.com/company/freebies.cfm - Many free printables including number and alphabet posters and cards. Handwriting sheets, color flash cards, vocabulary builder flash cards, printable books.
www.do2learn.com – Games, songs, communication cards, print visuals, Make a schedule, activities and more resources.
www.avenscorner.com – Games for children with special needs, but can be enjoyed for children of all ages.
www.starfall.com – Where children have fun learing to read. ABC, picture stories, fun reading learning games.
www.treehousetv.com – Games and video.
www.funbrain.com – Games, math, reading, playground, web books, comics, videos.
www.usevisualstrategies.com/pictures - visual pictures.
www.pecsplace.com - PECS PLACE is a game, it is meant to be fun and rewarding, and yet at the same time… can be used by parents, habilitators, and therapists alike, to be another tool to help teach your child!
www.trainland.tripod.com/pecs - Beyond Autism Pecs Pictures,
www.mousetrial.com - Fun animated online exercises to help kids with autism.
www.earobics.com/gamegoo/gooeyhome - Fun educaltional games that help develop
early reading skills.
www.visualaidsforlearning.com - Visual Aids for Learning has created downloadable visuals to help people learn everyday activities. The images are ideal for children, particularly those with learning difficulties. Where appropriate, the images are gender specific.
www.pics4learning.com - Pics4Learning collection consists of thousands of images that have been donated by students, teachers, and amateur photographers.
www.elearning.autism.net/visuals - Visual images and visual boards for everyday. Demonstration videos to explain how to use the images with the boards.
www.abclearningtime.com – ABC, tell time, learning numbers and more.
www.kinderwebgames.com – Educational childrens games.
www.gamequarium.com – The site that swims with learning fun.
www.learninggamesforkids.com -These learning games and songs are fun, teach important skills for preschool and elementary school kids and they're free. Want educational games that help build skills? You've come to the right place!
Schooltimegames.com
Photobucket.com

Functional Analysis of Problem Behavior

Doug, 10, is enrolled at the QSAC Day School. He has a variety of independent skills. Doug used to engage in frequent and repetitive object-tapping (banging two items together). Due to his persistence tapping, it was difficult to return him to classroom activities and ongoing instruction. He seemed to engage in this behavior to escape or delay academic instruction. Some instructors felt the reason was to get attention because he typically laughed or struggled with them when they attempted to take the items away. Also, because tapping occurred so frequently, some felt that he engaged in this behavior because of the sensory stimulation that it provided.

It was decided to conduct a functional analysis (FA). As described in our previous newsletter, a functional analysis involves the systematic exposure of the behavior to different “tests” to see how the behavior is affected.


The results showed that tapping behavior was highest during the attention and alone conditions, demonstrating that tapping served to gain attention from others and was automatically reinforced. Additionally, the results showed that tapping did not function to escape or avoid tasks, or to gain other types of tangibles in the environment. Tapping, because of the multiple functions that it served, was considered a multiply-maintained behavior for Doug. Multiply-maintained behavior can be particularly difficult to address because an intervention would have to be effective in addressing both reasons or be comprised of different components that could address each one separately. Treatment conducted at the QSAC Day School will follow in a future newsletter.

by Ronald Lee, Ph.D., BCBA, Director of QSAC Day School

Single-Dose Measles, Mumps Rubella Vaccines May Be Discontinued by Merck

Merck & Co. has been producing monovalent (independent, single-dose) measles and rubella vaccines and was scheduled to make an individual mumps vaccine available this spring.

Last December, Merck notified the CDC that it is no longer producing or taking orders for monovalent measles, mumps and rubella vaccines. The company has not announced whether or not it will make the single-dose versions available for sale again in the future. Since there is great concern by many parents and professionals in the autism community regarding the safety of the trivalent measles, mumps and rubella (MMR) vaccine, there is much support for the availability of monovalent vaccines until there is adequate unbiased research to properly evaluate the safety and efficacy of the trivalent MMR vaccine.

Merck & Co. is the only provider of monovalent versions of these vaccines. Parents, caregivers and providers are encouraged to contact a Merck representative at (800)672-6372 to voice their opinions on this important issue.

The Challenge of Changing Self-Injurious Behaviors in Autism

Self-injurious behaviors (SIB) and aggression are the two major destructive and devastating behaviors in individuals with developmental disabilities. The U.S. National Institutes of Health (1989) considers that self-injurious behavior (SIB) is a serious and chronic disorder that may result in significant physical, social, and educational risks. Although the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV: TR) does not indicate self-injurious behaviors as specific to autism, probably due to the limited research data available on SIB in autism, there is extensive literature on SIB in individuals with developmental disability (American Psychological Association, 1994; Hendren, et al., 2007).

According to Tate & Baroff (1966), self-injurious behaviors could be defined as multiple or heterogeneous responses directed toward one’s own body that result in tissue damage (Simon and Hollander, 2001; Schroeder, et al. 2002). In autism, self-injurious behaviors are one of the most concerning forms of lower-level repetitive stereotypic behaviors (RSB) (Bishop and Kleinke, 2007).

Self-injurious behaviors in autism have multiple topographies with different biochemical and social environment causes and effects. The most common topographies of these behaviors include, but are not limited to head-banging, head-hitting, face-punching/slapping, hand-biting and excessive self-rubbing and scratching (Edelson, 1999; Schroeder, et al. 2002).

Although there are not too many high-quality epidemiological studies, the prevalence rates of self-injurious behaviors in individuals with developmental disabilities (e.g. Lesch Nyhan syndrome and autism) ranges from 5-16% in several studies (Hammock, Schroeder, Levine, 1995; Rojahn & Esbensen, 2002). The prevalence of self-injurious behaviors in people with disabilities living in non-residential setting has been estimated to be 1.7% (Rojahn, 1986), while for people with disabilities living in a residential setting has been estimated to be 11.1% (Hill and Bruininks, 1984). Prevalence of self-injurious behaviors varies with intellectual ability.It has been observed that self-injurious behaviors is more often in people with severe disabilities than individuals classified with mild and moderate disabilities (Borthwick, Meyers, & Eyman, 1981; Rojahn, 1986). Self-injurious behaviors are most commonly reported as a serious behavior challenge in people diagnosed with autism, schizophrenia, mentally retardation or brain damage (Hammock et al., 1995).

Self-injurious behaviors (with restricted pattern of behaviors), movement disorders and cognitive deficits have been associated with developmental, neurological, psychiatric and genetic disorders (Bodfish & Lewis, 2002).

Disorders associated with self-injurious behaviors

Developmental disorders	Neurological disorders	Psychiatric disorders	Genetic disorders
Mental retardation	Tourette’s syndrome	personality disorders	Lesch-Nyhan syndrome
Autism	neuroacanthocytosis	eating disorders	Prader-Willi syndrome
	frontal-lobe epilepsy	schizophrenia	Rett syndrome
		trichotillomania	Cornelia de Lange syndrome
		onychophagia	Smith-magenis syndrome
			Fragile X syndrome
(Bodfish & Lewis, 2002)

Individuals with developmental disabilities injure themselves for different reasons, which require diffrerent treatments. Self-injurious behaviors may be a result of over-arousal (e.g. frustration) and self-stimulatory or stereotypic behaviors. They engage in this type of behavior to obtain attention from other people (Iwata et al., 1993), and escape or avoid a task. Furthermore, it may be due to hypersensitivity to certain sounds in the environment, communication deficits; seizure activity in the frontal and temporal lobes (Gedye, 1989; Gedye, 1992); congenital brain disorder, neurochemical dysregulation (e.g. dopaminergic mechanisms, serotonergic transmission, GABA, and imbalance in the engogenous opiod system), and health conditions (e.g. otitis media, sleep deprevation, menses, gastroensophageal reflux disease), and anxiety-provoking events, which may resemble processes in people with panic attack disorder (e.g. hyperventilation, tachycardia, perspiration) (Stein & Neihaus, 2001; Thompson & Caruso, 2002).

Unfortunately, there is not a single treatment for self-abusive behaviors. The most effective treatments for both self-abusive behaviors and aggressive behavior have been based on a multi-model approach that includes applied behavior analysis (ABA) in conjunction with pharmacological therapy (Favell et al., 1982; Johnson & Baumeister, 1978; Pelios, et al,, 1999; Sandman & Touchette, 2002; Deleon, et al, 2002). According to the National Institutes of Health (NIH, 1989), applied behavior analysis (ABA) appears to be effective in some individuals in suppressing self-injurious behaviors. Differencial reinforcement of other behavior (DRO) and differential reinforcement of incompatible behavior (DRI) interventions seem to be effective in treating some individuals with self-injurious behaviors (SIB) (Tarpley & Schroeder, 1979).

The psychopharmacologic agents used to treat self-abusive behaviors include neuroleptics, sedative-hypnotics (barbiturates), stimulants (d-amphetamine, methylphenidate), antianxiety drugs, antidepressants and mood stabilizers, anticonvulsants, antihypertensives and opiate antagonists.

There is some evidence that neuroleptic agents are beneficial in treating some individuals with developmental disabilities and aggressive behaviors, but there is no solid evidence of the efficacy of neuroleptic agents in self-injurious behaviors. However, the second-generation antipsychotics, which have effects on both the serotonin (5-HT2) and dopamine (D2) systems, have been used in controlling autistic symptoms (Rojahn & Esbensen, 2002). On October 6, 2006, the U.S. Food and Drug Administration (FDA) approved Risperdal (Risperidone) to treat maladaptive behaviors associated with autism, such as irritability, aggression, and deliberate self-injury and temper tantrums.

Other medications used to treat symptoms associated with autism including stereotypic and or impulsive self-abusive behaviors are selective serotonin reuptake inhibitors (SSRIs) such as are Fluoxetine (Prozac) and sertraline (Zoloft). Although the SSRI are relatively safe and popular, some studies have suggested that they may have undesirable effects on some people with autism (hypomania) and they have not been proven effective in autism associated with stereotypic self-injurious behaviors (Stein & Niehaus, 2001; Grossman & Siever, 2001).

In a few studies, Lithium Carbonate has been suggested to be beneficial in treating individuals who have autism with mood dysregulation disorder and display self-injurious behaviors or aggressive behaviors. Anticonvulsant such as Depakote, Trileptal, Lamictal and Tegretol have also been widely used in controlling autistic symptoms including assaultive or self-injurious behavior. Beta-adrenergic blocking agents such as Propranolol, Nadolol and Pindolol have been reported in a few studies to reduce rage-related reactions, aggression and self-abusive behaviors (Tsiouris & Brown, 2004); however, there is no clinical trials reported in individuals with autism. Other studies suggest that alpha-adrenergic agonists, such as Clonidine and Guanfacine, may be useful for symptoms such as irritability and hyperactivity, but not for restricted stereotypic behaviors (RSBs) with self-abusive behaviors. Opiate antagonists theory has shown promise in treating self-abusive behaviors; however, clinical studies of opiate antagonists such as Naloxone and Naltrexone, which block the effects of endogenous opiates, have yielded conflicting results (Thompson & Caruso, 2002; Sandman & Touchette, 2002).

Multi-drug therapy for self-injurious behaviors and autism depends on associated comorbid conditions and the neurochemical phenotypes of autistic individual. Although there are some pharmacological treatment options for individuals with autism with associated symptoms of stereotypic or impulsive self-injurious, more therapeutic alternatives are being explored. The National Institutes of Health is evaluating self-injurious behaviors in mental retardation and autism. They are testing the effectiveness of new treatments with transcutaneous electric nerve stimulation (TENS), NeuroModulation Technique (NMT), Naltrexone, Abilify (Aripiprazole) and D-Cycloserine. The purpose of these studies is to determine whether they are effective in reducing maladaptive behaviors.