Aiming for early diagnosis

Heightened awareness regarding child disorders has been accompanied by an increase in pharmaceutical treatment. The notion that drugs should be used to control behavior has gained ground. The Athens-based Spyros Doxiadis Unit hopes to raise awareness among pediatricians on the Aegean Islands so that kids with developmental disorders can be diagnosed early, but lack of funding hampers their mission. When children are taken for vaccinations, doctors could examine them for developmental disorders. Once a disorder has been detected and assessed, assistance and guidance could be provided to the parents. A brain scan can detect disorders by showing which parts of the brain are under-functioning. Many brain cells produced at birth are not used until later. Environmental stimulus plays a key role in a child’s development as it determines how many brain cells die per minute, in accordance with the quantity and quality of stimuli the child is exposed to. Therapy is thus based on providing stimuli to the child’s brain. At one-and-a-half years of age, there is another large production of neurons in the brain when the speech centers also mature. At the age of 8-9 years, a second wave of non-specialized neurons is produced in the brain and their development depends on the extent to which they are used. If a cell is not used, it dies. This is why early diagnosis and rehabilitation are vital. A child’s doctor who is not aware of such issues might assume a child who does not speak by the age of 3 is lazy. By the time that child is 4 he or she might be autistic, whereas early intervention would have produced a different prognosis. The aim is to intervene before the age of 18 months. Genetic analysis Geneticist Constantinos Pangalos says a molecular karyotype (chromosome profile) can help identify the causes of mental retardation, autism and learning disorders. The new technique enables microanalysis of the human gene, showing up to 1,000 more details than a normal karyotype. As Pangalos explained, «the technique has revealed that hundreds of areas of the human gene differ from person to person as regards their number of copies; in other words, in some areas they are missing, while in others they are doubled. The finding reversed the belief that human genes are 99.9 percent the same. Generally the copy number variation is innocuous but in some it is linked to certain disorders, such as autism and mental retardation. The technique makes it possible to analyze valuable information regarding genetic damage and reach a prognosis on the chromosome tests carried out on over 20,000 pregnant mothers every year in Greece.» This article first appeared in Kathimerini’s supplement K on January 27, 2008.