Into the Penetrable Walls of Miggy: Oct 28, 2012

28 October 2012

Cousins, Both on the Spectrum

Miggy and his first cousin, both on the spectrum. Is autism hereditary? Is it genetic?

GENES, HEREDITY AND AUTISM

There has been, and continues to be, a lot of research in the area of genes and heredity in relationship to autism. We need to have an understanding of genes and heredity before we dig deeper into this subject. Basically, a gene is the basic biological unit of heredity. Heredity is the genetic transmission of characteristics from parent to offspring.

There are presently a number of ongoing studies to determine if there are specific genes that run in families who have a child with autism. In a recent study, Jonathan Sebat and Michael Wigler discovered that 10 percent of the 195 autistic patients they studied had evidence of tiny spontaneous chromosomal mutations, each with a different gene involved. The importance of this is the fact that a spontaneous mutation indicates it is not inherited.

In another study, Pat Levitt, the director of the Vanderbilt Kennedy Center in Tennessee, reported, "In autism, there are a certain number of individuals who have more variation in the number of copies of genes. In blood samples from the autistic patients and an equal number of unaffected siblings and parents, 10 percent of them had spontaneous genetic mutations compared with 1 percent of those in a control group.

According to Sebat, however, the mutations appeared at different places suggesting "that there are so many possible places where you can get a hit." Sebat suggests that scientists will eventually figure out what each of these genes do, "so a common theme might emerge to explain autism."

Autism, it is suggested, has been influenced by genetics according to a number of studies. The problem is few genes have been identified to be involved in the disorder. Researchers believe that in most cases they are thought to be influenced by dozens of defective genes, or by rare spontaneous mutations.

In 2002 a group of scientists pooled their resources and formed the Autism Genome Project.They used gene chip technology to look for genetic similarities in people with autism. Their study involved 1,200 families, with 120 scientists throughout 19 countries in more than 50 institutions. Their study basically revolved around a region of chromosome 11 and a specific gene called neurexin 1. As a result, experts say these findings will help with discovering new autism treatments. This goes along with the long-held theory that errors in a person's genetic blueprint play a part in autism. The group has started the next phrase of their work which is estimated to take three years to complete.

When researchers find the genetic factors that play a role in the development of autism this will one day lead to a more accurate measurement of the possible recurrence risks in families as well as provide for better treatments.

Dr. Lisa Croen explained that there are a multitude of genetic studies completed, beginning, or in progress, "but no single gene has been identified as an 'autism' gene. There are lots of hotspots, but the studies are not consistent." The studies of genes and heredity will continue, just like the studies in vaccinations continue. Eventually, hopefully sooner than later, some of the possible causes will be once and for all eliminated while other areas will be researched in more depth. This, however, does not offer the families with an autistic child much comfort - the not knowing, the uncertainty, and, as stated earlier, the frustration this creates is overwhelming. It's not good enough to say that "one day" we will know what causes autism - one day may be a year from now, ten years from now, or even longer.

Source: http://www.trcb.com/health-and-fitness/autism/genes-heredity-and-autism-500.htm

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May this documentation of my son's journey through autism inspire all of you. Here, you will see not only my struggles to enter his world, but you will also witness his greatest efforts to fit into mine.

Be inspired with my prayers, hopes, perseverance and endurance in trying to recover my child.
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Surprising Autism Information You Need to Know

By Lisa Jo Rudy, About.com Guide

What Do You Really Know About Autism?:

There are plenty of myths about autism spectrum disorders out there. Some folks still believe, for example, that people with autism are all geniuses or mentally challenged. Others believe that people with autism are the result of poor parenting choices. These myths have been soundly debunked, both here and in many other places. But even those of us who are well-grounded in autism basics may be surprised by some of these facts, which are emerging from recent research.

Autism Is a Plural Noun:

Autism is not a single disorder. In fact, mainstream researchers agree that the autism spectrum is probably a collection of multiple disorders with multiple causes, prognoses, and appropriate treatments. Quite a bit of recent research has uncovered a number of distinct genetic differences (some inherited, some spontaneously mutated) that seem to be associated with various types of autism.

We Know What Causes Autism (Sometimes):

We do know what causes autism -- but only in about 20% of cases. Causes include genetic mutations, heredity, pre- and post-natal trauma or exposures to alcohol or drugs, and, in some cases, injury. In addition, some research suggests older parents, environmental pollution, and even pesticides.

Some Kids "Outgrow" Their Autism Diagnoses:

Quite a few children who are diagnosed with autism at a very young age are no longer diagnosable with autism by the time they’re school-aged. The reasons for this are controversial, and range from the possibility of misdiagnosis to ordinary maturation to claims of a cure through behavioral, developmental and/or biomedical interventions. Whatever the reasons, many children who are diagnosed with autism as toddlers will not be diagnosable by the time they're in fifth grade.

There's No Window of Opportunity for Treating Autism:

Early intervention (diagnosis and treatment prior to age three) is very helpful indeed, but there is no “window of opportunity” that slams shut at a certain age. Thus, even children who are diagnosed later or receive less early intervention may do quite well in the long run. The "now or never" approach to autism treatment is a result of media hype -- not research findings. Early intervention does, however, provide a now-or-never opportunity to allow non-verbal children to develop some kind of useful tool for communication (picture cards, signs, or even spelling boards).

Even a Cure May Not Be a Cure:

There is no official “cure” for autism. In fact, researchers like Dr. Susan Levy at Children’s Hospital of Philadelphia argue that even when a young child is no longer diagnosable on the autism spectrum, he is probably still autistic. Issues that may not be of significance for a preschooler (e.g., executive functioning, picking up on complex social cues, etc.) may loom quite large as a child moves through the grades.

Late Talking is Not the End of the World:

Late talking is not an indication of a poor prognosis. Even if a child is not yet verbal at age three or four, she may still do very well in the long run.

Kids with Autism Aren't Always Visual Thinkers:

Children with autism may or may not be visual thinkers. Thus, school programs designed with visual thinking in mind may or may not be appropriate for any individual child with autism.

No One Knows Which Treatments Work for Which Kids:

After many years of research, we still don’t know which treatments are most effective for which children -- or whether one treatment is more effective than another. Behavioral interventions are the best-researched treatments for autism, but even top scientists acknowledge that developmental interventions may or may not be equally useful for any given child. Meanwhile, only two drugs -- Risperdal and Abilify -- have been approved for use with children on the autism spectrum, and neither addresses “core” issues of autism (social/communication deficits).

What Are the Different Names for Autism Spectrum Disorders?

By Lisa Jo Rudy, About.com Guide

Autism is a "spectrum disorder," meaning you can be a little autistic or very autistic. But the diagnoses within the autism spectrum aren't clearly named, nor are the symptoms always the same even within the same diagnosis. What's worse, terms like "severe autism," "mild autism" and "high functioning autism" aren't true diagnoses at all - they're just descriptive terms to help parents and teachers better understand a child's status on the autism spectrum.

What Is the Autism Spectrum?

The "autism spectrum" describes a set of developmental delays and disorders which affects social and communication skills and, to a greater or lesser degree, motor and language skills. It is such a broad diagnosis that it can include people with high IQ's and mental retardation - and people with autism can be chatty or silent, affectionate or cold, methodical or disorganized. "Autism Spectrum" is also another, less formal term to describe the Pervasive Developmental Disorders.

Official diagnoses within the autism spectrum are autistic disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), Asperger syndrome, Childhood Disintegrative Disorder and Rett Syndrome.

What Are Pervasive Developmental Disorders?

"Pervasive Developmental Disorder" is a formal term that means exactly the same thing as the less formal "autism spectrum disorder." As with the autism spectrum, the group of disorders described as pervasive developmental disorders includes autistic disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), Asperger syndrome, Childhood Disintegrative Disorder and Rett Syndrome.

What Is Asperger Syndrome?

Asperger syndrome describes individuals at the highest-functioning end of the autism spectrum. Unlike other autism spectrum disorders, Asperger syndrome is often diagnosed in teens and adults. People with Asperger syndrome generally develop spoken language in the same way as typically developing children, but have a tough time with social communication. These difficulties that become more obvious as they get older and social expectations rise. Because people with Asperger syndrome are often very intelligent - but "quirky" - the disorder is sometimes nicknamed "geek syndrome" or "little professor syndrome."

What Is Mild Autism?

The term "mild autism" is not an official diagnosis. It's simply a more descriptive term than "Asperger syndrome" or "autism." Generally speaking, when people use the term mild autism they are referring to individuals whose symptoms fit an autism spectrum diagnosis, but who has strong verbal skills and few behavioral issues. Those individuals may, however, have significant problems with social communication. They may also have problems coping with too much sensory input (loud noise, bright lights, etc.).

What Is High Functioning Autism?

Like "mild" autism, high functioning autism (sometimes shortened to HFA) is a made-up term that's become more and more commonly used. HFA is a tricky term, because it can be hard to distinguish a person with HFA from a person with Asperger syndrome. The official distinction is that people with HFA had or have speech delays, while people with Asperger Syndrome have normal speech development. But there may also be very real differences in terms of social awareness, personality characteristics, and other traits. The jury is still debating the fine distinctions.

What Is PDD-NOS?

"Pervasive Developmental Disorder Not Otherwise Specified" is a mouthful of words that are often applied to people on the autism spectrum. It describes individuals who don't fully fit the criteria for other specific diagnoses, but are nevertheless autistic. Unfortunately, there is no easy way to define the symptoms of PDD-NOS, which may range from very mild to very severe. As a result, the term is rarely used outside of practioners' offices. Most parents, therapists and teachers prefer to use more descriptive (though less official) terms to describe their children, students and patients with PDD-NOS.

What Is Severe Autism (Autistic Disorder)?

Severe autism is officially termed autistic disorder. It goes by many other names, though, including profound autism, low functioning autism, or classic autism. People with autistic disorder are often non-verbal and intellectually disabled, and may have very challenging behaviors.

What Is Rett Syndrome?

Rett syndrome is a genetic disorder that affects only girls. It is the only one of the autism spectrum disorders that can be diagnosed medically (so far). Girls with Rett syndrome develop severe symptoms including the hallmark social communication challenges of autism. In addition, Rett syndrome can profoundly impair girls' ability to use their hands usefully.

Top 10 Treatments for Autism

By Lisa Jo Rudy, About.com Guide

As you start to dig deeply into the literature on autism treatments, you'll find dozens of available options. Which are the "best" treatments? As the professionals will tell you over and over again, every child's needs are different. The treatments described in this article are among the best known, best researched, and most likely to produce positive results.

1. Applied Behavioral Analysis (ABA)

Applied Behavioral Analysis (ABA)is the oldest and most fully researched treatment specifically developed for autism. ABA is a very intensive system of reward-based training which focuses on teaching particular skills. If any autism-specific therapy is offered by your school and/or covered by your insurance, this will probably be the one.

2. Speech Therapy

Almost all people with autism have issues with speech and language. Sometimes these issues are obvious; many people with autism are non-verbal or use speech very poorly. Sometimes the issues relate not to articulation or grammar but to "speech pragmatics" (the use of speech to build social relationships). Across the board, though, speech and language therapy is likely to be helpful for people with autism.

3. Occupational Therapy

Occupational therapy focuses on building daily living skills. Since many people with autism have delays in fine motor skills, occupational therapy can be very important. Occupational therapists may also have training in sensory integration therapy - a technique which may help autistic people manage hypersensitivity to sound, light, and touch.

4. Social Skills Therapy

One of autism's "core deficits" is a lack of social and communication skills. Many children with autism need help in building the skills they need to hold a conversation, connect with a new friend, or even navigate the playground. Social skills therapists can help out setting up and facilitating peer-based social interaction.

5. Physical Therapy

Autism is a "pervasive developmental delay." Many autistic people have gross motor delays, and some have low muscle tone (they're unusually weak). Physical therapy can build up strength, coordination, and basic sports skills.

6. Play Therapy

Strange as it may sound, children with autism need help learning to play. And play can also serve as a tool for building speech, communication, and social skills. Play therapists may have training in particular therapeutic techniques such as Floortime or The Play Project - or they may incorporate play therapy into speech, occupational or physical therapy.

7. Behavior Therapy

Children with autism are often frustrated. They are misunderstood, have a tough time communicating their needs, suffer from hypersensitivities to sound, light and touch ... no wonder they sometimes act out! Behavior therapists are trained to figure out just what lies behind negative behaviors, and to recommend changes to the environment and routines to improve behavior.

8. Developmental Therapies

Floortime, Son-rise, and Relationship Development Intervention (RDI) are all considered to be "developmental treatments." This means that they build from a child's own interests, strengths and developmental level to increase emotional, social and intellectual abilities. Developmental therapies are often contrasted to behavioral therapies, which are best used to teach specific skills such as shoe tying, tooth brushing, etc.

9. Visually-Based Therapies

Many people with autism are visual thinkers. Some do very well with picture-based communication systems such as PECS (Picture Exchange Communication). Video modeling, video games and electronic communication systems also tap into autistic people's visual strength to build skills and communication.

10. Biomedical Therapies

Biomedical treatments may include pharmaceuticals, but most often biomedical treatments for autism are based on the Defeat Autism Now! (DAN!) approach to autism therapy. Doctors trained in the DAN! "protocol" prescribe special diets, supplements, and alternative treatments. None of these treatments have been approved by the FDA or CDC, but there are many anecdotal stories of positive outcomes.

28 October 2012

Cousins, Both on the Spectrum

Autistic Trait: Very good at puzzles

Ridgeview Moms

Special Daddies and Special Children