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Autism Spectrum Diseases - The Importance of Early Diagnosis - I

Drotumdi O


Otumdi Omekara, MD., MPAHA - Member of Society of Physician Entrepreneurs

The ability of parents to suspect that their baby may have autism is very critical to early diagnosis and intervention. This article is aimed at getting parents to the point where they are able to ask: Is this autism or what? How early this question is answered in a child's life, goes a long way to determine whether he/she will live a dependent or independent life. A high index of suspicion is so important because having had previous normal children does not exclude the possibility of having an autistic baby.

The risk of having autism is highest (90%) for a concordant twin of a known autistic kid. Other siblings have only 35% risk of being diagnosed with autism. Autism usually presents enough symptoms and signs for accurate diagnosis by the age of two. As such many federal and state government programs for supporting autistic children require that it is diagnosed before his/her second birth day for them to qualify.

In response to the growth of autism as a source of disability in the US, Congress passed the Children's Health Act in 2000, mandating several activities that included the establishment of a new autism research network. This legislation led to the birth of five NIH institutes charged with the responsibility of researching into the causes, diagnosis, early detection, prevention and treatment of autism.

Yet a CDC autism survey in 2009 showed that 1 in 110 US kids was at risk of developing autism, with boys being four to five times more likely to be affected than girls. A significant number of high-functioning autistic kids diagnosed in 2000 are now in their early twenties and need vocational employments as people with liability. There are many federal, state and county programs currently available to assist higher functioning autistic adults with independent living, job procurement, community inclusion, speech therapy and mental health care.

Since 2000 a lot has been learned about autism neurobiology, diagnosis, intervention genetics, and services. The number of autism support resources have also grown dramatically. One key knowledge that has emerged from the various research efforts is that autism is a broad spectrum disorder including several members of a group of disorder known as pervasive developmental disorders (PDDs).

Autism is therefore presently classified in the Diagnostic and Statistical Manual of Mental Disorders, 4th Edition. (DSMV--IV-TR) as Autism Spectrum Disorder (ASD). The DSMV-IV describes ASD as a group of five pervasive brain. disorders (AD, AS, PDD-NOS, RD, and PCDD) which variably impair a child's ability to communicate, socialize, behave normally. and reason at age-appropriate levels. AD is the classic autism disorder. AS is Asperger's Syndrome. PDD-NOS is Pervasive Developmental disorders Not Otherwise Specified. RS IS Rett Syndrome while CDD is Childhood Disintegrative Disorder.

The classic ASD is a neuro-psychiatric developmental disorder affecting the brain in such a way that an individual's communication, socialization, behavioral, cognitive (reasoning) abilities are compromised to various extents. It is the extent to which these adaptive skills are compromised that differentiates one PDD from the other. It also accounts for the spectral nature of autism. In severe ASD the IQ is substantially reduced adding the fourth component, cognitive (reasoning) impairment to the picture.

This same compromise accounts for the highly variable levels of disability observed among individuals diagnosed with ASD. Some autism patients are so minimally affected as in Rett disorder that they live independently without supervision. Others are so severely affected, as in classic ASD, that they need 24/7 residential care, as well as assistance with activities of daily living (ADL).

The rest of the PDDs then fit in at various levels between these two extremes. How ASD selectively targets and alters the areas of the brain responsible for emotions, speech, behavior and reasoning is still being actively researched. These target areas include the limbic system (amygdala and nucleus accombens), and the ventromedial prefrontal cortex and the frontal lobe.

The understanding of how these areas have been genetically altered by other disorders affecting them, coupled with observations in traumatic or surgical lobotomy, have both provided some insight into the possible risk factors for autism. What is known so far is that ASD is triggered by multiple and random gene alterations (frame shift mutation or gene duplication, or deletion), on chromosomes 15 and 16. Gene deletion or duplication leads to a frame shift mutation, which in turn leads to the production of a neutral protein, a destructive protein, or an enhancing protein in the target areas of the brain


Dr. Otumdi Omekara is a preventive/business medicine specialist and medical publisher with over two decades of clinical practice experience and over a decade of provider management experience. His passion for patient education drives his medical content article writing and publishing. He was a health educator at Oregon DHS Center for Disease Control from 2001 to 2002. Prior to that he volunteered at NE Portland Neighborhood Clinic as a health educator from 1997 to 2002. Since 2002 he has been the Medical Publisher at Drotumdio Health Publications (dHp). He can be reached at PO Box 91221 Portland Oregon 97291, or 9712085909