My 20- month- old son is in a special preschool and they have diagnosed him as having mild developmental delays in all areas but most particularly in speech and fine motor areas. His older cousin has similar delays and extreme behavioral problems. Our pediatrician has referred us to our local Regional Center. We would really like to know why he is delayed and what we can expect for him in the future.

Can you help us?

Answer:

You are asking a good question. Your child should be evaluated in attempt to find a reason for his delays. Your Regional Center physician, a developmental pediatrician or your own pediatrician should be able to help you get these tests or refer you to someone who will help you.

There are many different reasons why a child may be delayed. These include any trauma that may have occurred while he was in your uterus or those that may have occurred surrounding the time of delivery. There are also infections or chemical exposures that when contracted during pregnancy can cause an infant to be delayed. An infant can develop with nervous system abnormalities or brain malformations that might significantly effect his development. A complete physical examination and perhaps pictures of the brain would find some of these. Usually a young child with abnormalities on neurological exam, seizures or paralysis will raise the physician’s suspicions.

There are also abnormalities of chromosomes that may be inherited from either or both of his parents. Such chromosomal damage can cause the baby to have delays. Some of these have been grouped into known “Syndromes” that describe the group of physical and developmental abnormalities one might find when a baby has a specific chromosome abnormality. Chromosome abnormalities in cells may be easy or hard to identify requiring microscopic examination or growing the chromosomes with certain nutrients. This science has developed a great deal over the last few years and more and more new “syndromes” resulting from very small chromosome defects are being discovered. Scientists are also identifying chromosome abnormalities that go along with some of the “Syndromes” that were described a long time ago without knowing why they occur.

Metabolic (body chemistry) abnormalities or hormone deficiencies also occur. These are frequently inherited and can lead to a child reaching a certain point in development and then losing skills previously acquired. They can also be associated with liver, kidney, blood or brain (seizures) abnormalities. Some of these, if discovered early, can be treated by replacing the hormone (such as thyroid) or avoiding foods that the child cannot convert to useful molecules.

Your physician should start with a complete physical exam, including neurological exam, and a complete developmental and medical history of both your child and family, including the pregnancy and birth history. Often this is sufficient to lead to a diagnosis. If not then specific details in the history may lead the doctor to do further testing confirm a suspicion or to further narrow down the type of abnormality.

You might ask, “What is the value of persuing finding the cause”. There are many reasons:

• The problem may be a metabolic defect that can be improved by diet or hormone replacement.
• The problem may be inherited and you and other family members may need this information to make informed decisions about further pregnancies.
• The type of “syndrome” may have other physical abnormalities associated with it, such as seizures or liver disease, that might not be easily seen unless looked for in more detail.
• Sometimes finding a particular syndrome can explain behavioral disorders that were previously a mystery. There may be research on the treatment of the behavioral disorder for that particular syndrome.
• Often parents have a sense of closure and relief when the cause of the delays is found.
• Many of both common and less common Syndromes have local and internet support groups, and ongoing research to find the latest information and treatments
• Having a “diagnosis” might give one a better idea of what to expect with your child in the future.

I suspect that you can tell from my answer that there is no easy way to give you all the information that you might need. I intend this as an explanation of how a physician would go about evaluating a child with developmental delays. Different doctors go about this in slightly different ways but are always thinking of the same groups of causes that are discussed above.