Recent Advances in the Identification of Early Signs of Autism in First Year of Life Clinical Aspects Research

Background:  Most recent research findings indicate that genetic and neurological factors associated with environmental aspects influence the phenomenon onset of autism. One of the assumptions is that as the population grows, new mutations emerge in the human genome, adhering to the polymorphs of the chromosomes A or B and contributing to the development of the autistic syndrome. It is still not possible to isolate and distinguish genetic, environmental and neuro-developmental factors. Many parents report; "Until the age of one year old my child developed properly and then there was a regression." What happens at that significant cutoff point between the first and second years of life? Does the clinical picture really change?

Objectives:  In most western cultures children are diagnosed at a relatively early age (2-3) but even this age may be too late. It is advantageous to diagnose and treat early signs of autism during infancy because the brain develops dynamically at this early stage. The most accelerated neuron growth occurs in the first 18 months of life, creating a complex texture of cells that control the baby's sensory-emotional-cognitive regulation. A study conducted over the last decade examined 110 babies diagnosed with autism at the age of 2-3 years, using retrospective analysis of parents’ video-recordings of their first year of life, (filmed before any suspicion concerning defective development arose).

Methods:  The videotapes had recorded the babies from birth, from the age of several days or weeks at a high frequency that naturally differed from family to family worldwide.  In addition to the videos collection, questionnaires were distributed to the parents. Variables investigated were: passivity, activity, eye contact, reaction to parents' presence, eating, reaction to touch, motor development and head circumference. All variables were measured blindly according to a validated evaluation form.

Results:  Four categories emerged from analysis of the parents’ responses : Group A: in 29.9% of the cases parents had suspected that something was inappropriate in their child’s development. Group B: in 22.4% of the cases, extended family members said that they felt something was wrong but did not tell the parents. Group C: in 8.4% of the cases family members had suggested the baby should be examined, but the suggestion was rejected by the parents. Group D: in 39.3% of the cases parents had not noticed any unusual signs. In the video-records analysis it was possible to identify early signs associated with autism characteristics in 98 of the 110 babies. Findings for 6 of the babies also showed pathological indices.

Conclusions:  Findings from this study indicate that 89% of the studied babies originating from different cultures, already exhibited suspicious signs during the first 15 months of life.  These findings (a) affirm the assumption that symptoms frequently appear in first year of life (b) indicate the urgent need to develop tools to identify risk for autism in first year of life. Such screening scale has been recently developed.