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Autism Spectrum Diseases - The Importance of Early Diagnosis - I

by Otumdi Omekara

posted in Health and Fitness

Autism Spectrum Diseases - The Importance of Early Diagnosis - I

Health and Fitness: Autism • Published: November 12, 2014

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.
(See Part II on Article List)
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Autism Spectrum Diseases - The Importance of Early Diagnosis - II
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When neutral proteins are produced, mild ASD will occur due to inadequate production of synaptic adhesion proteins (neuroligin, neurexin, MDGA1 and MDGA2) needed for normal mood, speech and behavior. When a toxic protein results it would destroy the target sites, and impair their functions.On rare occasions, a mutant synaptic adhesion protein may have an enhancing protein which may lead to a super-functioning ASD patient. Synaptic protein abnormalities have been associate with autism and schizophrenia. In order to easily recognize an abnormal pattern of child development, one needs to have a sense of what is normal.

After having two normal kids a mom might get a sense of what is normal in child development. But a new mom will need help knowing what to expect. She needs to know that at birth, a newborn baby will have a grabbing and reaching behavior or the startle reflex. The newborn is also able to initiate facial grimace, as well as cry and cling for attachment. As early as 1 week a newborn can distinguish mom's smell from dad's smell. A normal newborn, in the first couple of months is attracted to bright, colorful, moving objects, and can distinguish voice sound from ordinary noise.

Prior to the 8th week, the baby exhibits reflex (endogenous) smile. But by week 8, the baby responds to faces with a smile (exogenous or social smile). By week 12, the smile becomes selective for familiar faces only (preferential social smile). The newborn quickly learns to draw attention to personal needs by crying aloud. The loud cry usually builds up from unhappy face to grunting to sobbing to cry outburst with tear stream. As the child grows older he/she learns to kick off bed covers in protest and roll into ready to crawl position with head lifted up and eyes scanning for parents. In general the manifestations of autism are related to the child's tendency to be disinterested in the environment, to be inflexible with habits and mannerisms, and to be emotionally numb. Two early sign of inflexibility often overlooked in a newborn are the selective feeding on only one breast and selective sleeping in only one position.

The autistic newborn may also only fall asleep when the room is pitch dark or clutching a specific part of his/her body. Some may insist on having their thumb in their mouth before they can fall asleep. One of the earliest obvious suggestions that something may be wrong is the absence social smile between three to four months after birth.There may also be absence of eye contacts or tracking eye movements. It becomes more obvious that something is wrong between ages 6 and 12, when a child fails to develop normal emotional, speech and play patterns, and makes only repetitive sounds and hand movements.Synaptic failures between primary cortical sensory areas (visual, auditory, and somatosennsory) and association cortex, prevents learning and memory formation that occurs through the association of particular emotions with specific stimuli, place and objects.

Normally, the smiley face of a mom breastfeeding her baby stimulates increased dopamine release in the pleasure center (nucleus accumbens), and causes the baby to return a smile whenever a physiologic need is met. The pleasure of social interaction by itself may directly create a positive memory in a normal child through the hippocampus without nuerotransmitter surge in nucleus accombens. The script recorded in the hypocampus is played over and over by the autistic kid for every emotional situation, until there occurs a strong intrusive override by way of teaching. This accounts for the repetitive and non-interactive, domineering style of communication exhibited by autistic individuals. A negative emotion creates a diminished desire for the stimulus, by reducing the level of dopamine, which normally causes a craving for the stimulus.

This association of negative emotion with withdrawal occurs in the amygdala, the limbic nucleus for harm avoidance. Dopamine reduction is produced by a surge of serotonin into the synapses, which creates the feeling of satisfaction and switches off the stimulus. Two other neurotransmitters, mGluR2 and mGluR3, inhibit the opening of dopamine receptors, thereby further reducing its craving effect and increasing the harm avoidance response. The craving response and harm avoidance response are modulated by the ventromedial prefrontal cortical association area, which is the center for problem solving reward with a strong kink to the limbic system.

Author: Dr. O. Omekara

PO Box 91221, Portland OR, 97291


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