This is the final segment of four weekly features being presented by The Newtown Bee during April, Autism Awareness Month, and was produced by autism researcher Margaret Bauman, MD, a long-time supporter of the Jones family and Families United in Newtown (FUN). Each year, a segment of funds raised in Newtown and donated through FUN continues to support Bauman’s research.

It is now generally agreed that Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder believed to begin before birth. At the present time, the diagnosis is typically determined based on a triad of core clinical features including impaired social interaction, delayed and disordered language and isolated areas of interest. Additional features may include poor eye contact, stereotypic and repetitive behaviors, sensory processing dysfunction and insistence on sameness.

Infantile Autism was initially described by Dr Leo Kanner in 1943 and for many years was considered to be a psychiatric disorder, often attributed to poor maternal-child relationships, leading to the term “refrigerator mother” coined by Dr Bruno Bettelheim. Up to 75 percent were considered to be mentally retarded and many were institutionalized. Even as late as the early 1980s, ASD was considered a rare disorder, occurring in one in 20,000 children, more often in boys than girls by a ratio of 1:4.

In the 1960s and ‘70s, “hints” began emerging that suggested autism might have a neurobiological origin. During this time, electroencephalograms (EEGs) were reported to be abnormal in some cases. Genetic factors began to be considered as possible causative factors as well as perinatal trauma and prenatal viral infections such as rubella (Measles).

In the early ‘80s, studies began to appear using CAT (computerized tomography) scans, and Positron Emission Tomography (PET) scans suggesting the presence of brain abnormalities. In addition, there was the emergence of data related to abnormalities in serotonin levels in the blood of autistic children. However, definitive findings remained elusive.

In the mid 1980s, based on a study of postmortem brain tissue obtained from an individual with autism, microscopic abnormalities were reported in a number of brain regions, known to be related to the clinical features of the disorder. Additional studies followed, including those using neuropathology, magnetic resonance imaging, PET scans, and biochemical analysis, all of which continued to confirm and expand on significant findings in the brain, confirming that autism was a neurodevelopmental disorder.

Associated Disorders Discovered

Within the past 20 years, along with continued scientific investigations, clinical studies began to provide evidence of associated medical disorders that significantly impacted on the function and behavior of an individual with ASD. Many were found to have seizure disorders, gastrointestinal dysfunction, sleep disorders, sensory processing challenges, low muscle tone, and metabolic and genetic disorders to name a few.

It became apparent that when these medical conditions were identified and treated, many disruptive behaviors improved and those affected appeared to make more positive progress.

Over the years, increased awareness of ASD has become apparent, largely due to parent advocacy, parent support groups, and through private, state-wide and national agencies. As a result, more children are being identified earlier in life and support for them is being provided through early intervention services — specialized clinical sites and educational programs.

While there appears to be no “cure” in sight at this time, many ASD children, adolescents and adults are benefiting from the services provided.

Currently, data from the CDC (Centers for Disease Control) indicates a prevalence rate of one in 44 children in the United States, with some data reporting a rate as high as 1:36. Questions have been raised as to whether this dramatic increase in prevalence rate over the years relates to increased awareness, a broadening of the definition of the disorder, or a true increase in the numbers of those affected.

Currently, ASD is now perceived to be a heterogeneous disorder, clinically, biologically and etiologically. No one cause has been identified as being responsible for the disorder as a whole. Although genetic and environmental factors are believed to play a role in many cases, there is evidence that maternal immune disorders, medications taken during pregnancy, and older paternal age can be contributing factors.

There is now a focus on efforts to identify “biomarkers” that can reliably confirm a diagnosis, as well as efforts to determine and define “subgroups” of ASD individuals in order to provide more accurate identification, effective interventions and treatments.

One of the more significant advances over recent years has been the increased availability of technology as it relates to communication. Many non-verbal ASD individuals have been found to have at least average cognitive abilities and many can and do become effective independent communicators using one of now many available devices and systems, thus giving them a “voice.”

Advancements Continuing

Science continues to advance our knowledge of the disorder as have clinical observations and studies.

With improved technology, more scientific studies have been able to take advantage of advanced techniques for investigation in the fields of genetics, biochemical analysis, imaging studies, and neuroanatomic analysis as well as other areas. It is anticipated that, as these and other advances continue to become available, results will lead to more accurate diagnosis and more effective interventions.

Challenging areas going forward include the need to identify females more accurately on the spectrum who, it is believed, have been under-diagnosed, largely because many present symptomatically differently from males.

In addition, for many years, ASD has been seen as largely a childhood disorder; however, there is now a growing and much-needed interest in services for the increasing number of identified ASD adults, including secondary educations, social connections, living arrangements, and meaningful employment as well as needed community support services and medical care.

Aging among the ASD population is also rapidly becoming an important area of concern as many ASD adults are entering their senior years.

Our understanding of ASD has changed dramatically since its original description in 1943. However, we still have a long way to go.

Happily, new advances and insights continue to appear and science continues to provide insight into the nature of the disorder and its complexities. Many ASD persons are living better lives and are having more opportunities for independence and personal satisfaction.

But many, along with their families and support networks, continue to struggle. Hopefully, the answers will lie with advancing clinical and bench-science research and improved community-based services and opportunities.

Dr Margaret L. Bauman is a distinguished pediatric neurologist and research investigator who has been a pioneer in the study and treatment of autism for the past 25 years. One of the world’s foremost physicians in this field, she is highly respected for the outstanding clinical care she provides, as well as for her research and teachings in the domain of developmental disorders.