Information for You
21.01.06: When is it necessary to refer to a geneticist?
Parents ask their questions to the doctor-geneticist.
Q. My child has a speech delay. We are already observed by neuropathologist and other specialists. We were recommended to get consultation of a geneticist as well. Why? We don’t have hereditary diseases in the family.
A. Speech (as well as psychomotor and growth) delay may be connected with a hereditary disease or congenital metabolic derangement. Such diseases may arise in every family. Geneticist’s consultation will enable to find out the reason for the child’s development delay and prescribe correct treatment.
Q. My child has development delay, congenital heart and kidney disease. Genetic investigation was performed in the maternity hospital, and the results were normal. Isn’t it a hereditary disease?
A. They take blood samples of every child on the 4th-5th day of his birth in the maternity hospital to exclude the most frequent congenital metabolic derangements – in our country it is phenylketonuria and hypothyroidism.
These diseases are treated successfully in case of well-timed diagnostics. They could perform additional investigation of your child’s karyotype (hromosomes). This investigation reveals only alteration in chromosomes quantity or severe chromosomal rearrangement. Normal karyotype doesn’t exclude a hereditary disease. The most part of congenital genetic pathology is connected with the defect of only one gene, not of the whole chromosome. By investigating karyotype it’s impossible to see the single gene, however there are special clinical criteria of diagnostics in every such genetic syndrome. In such cases a geneticist makes diagnosis depending on clinical presentations. Doctors-geneticists are familiar with these peculiarities, sometimes an experienced doctor may diagnose genetic syndrome according to the child’s appearance. In some cases more complicated molecular-genetic investigation can confirm clinical diagnosis.
Q. My son is 10 years old. He has had four fractures for 2 years. Can it be a hereditary disease?
A. The geneticist will be able to answer this question after the child’s examination, analysis of genealogy and getting results of additional investigations. It is very important to ascertain if your child has osteoporosis (decrease of bone density). X-ray doesn’t always give complete information. Sometimes it’s necessary to perform more complete investigation of the child’s bone system – densitometry. This investigation enables to reveal a hereditary disease - osteogenesis imperfecta (congenital osteopsathyrosis). The geneticist will not only set a diagnosis, but also prescribe treatment and give information if there is risk for other members of the family to be taken ill with the disease.
Q. Is it possible to cure hereditary diseases?
A. In spite of the fact that it’s still impossible to remove causes of hereditary diseases (e.g. to replace the “sick” gene or a part of chromosome) there are effective methods of treating most of them. In some cases special diets are effective (e.g. in case of phenylketonuria and other aminoacids metabolism disturbances). Medical treatment aimed at eliminating the symptoms of hereditary diseases is also widely used. For instance, nowadays medications, strengthening the bone tissue, are widely used all around the world to treat patients with inborn bone fragility. Other medications are also used quite successfully: for instance, children, having growth delay, connected with hereditary pathology, are treated with the help of growth hormone; rachitis-like diseases are treated with the help of special forms of vitamin D, phosphates, etc. So, although modern treatment does not influence upon the gene effect helps to eliminate the external manifestation of it, which is, possibly, even more important.
Q. Can a hereditary disease first manifest itself when a child is 10 years old ?
A. Yes, it can. Not all hereditary diseases manifest themselves when a baby is born. The changed “gene” may be “sleeping” for several years, or even decades.
Q. There are no tall people in our family. Our daughter is the shortest in her class. I do not see any problem in it, but our pediatrician recommended to see geneticist. Should we do it?
A. Most likely, you are right, and there is nothing to worry about. But in case your daughter is shorter than the third percentile (that means that only 3% of healthy children her age are the same height or shorter) you should refer to a specialist (geneticist - endocrinologist) in order to dissipate all doubts. The growth delay may be connected not only with family peculiarities, but with other reasons – growth hormone lack, chromosome diseases.
Q. What investigations should one have in order to find out the causes of growth delay?
A. To find out the cause of growth delay it is necessary to investigate the bone age of the child. The doctor makes an X-ray of child’s hand. The next stage of the investigation is to define the level of the thyroid hormones, 
the markers of protein and mineral profiles, in case of necessity, the child should have an pelvic ultrasound check, thyroid gland, karyotype (chromosomes). If the doctor suspects a growth hormone shortage, an additional examination with special stimulation may be necessary.
Q. Why does a child need additional examination? Is not the “basal level of growth hormone” enough?
A. The matter is that growth hormone is produces by impulses. That is why the basal level of growth hormone may be “0” even in case the child is absolutely healthy. In order to see the real level of growth hormone various medications, intensifying its production, are used. Such investigation may be carried out only in the in-patient department.
Q. How long does it take to examine a child with growth or development delay?
A. The investigation may be carried out within one day in the AMC Day In-patient department.
Professor Belova Natalia Alexandrovna will gladly answer your questions (nbelova@amcenter.ru).
Other useful information
All articles
