Family physicians should be aware of Down's-related health problems In 1965 Dr. Siegfried Pueschel was a young resident in pediatrics at the Montreal Children's Hospital. He was doing research into the genetic disorder called Down's syndrome (DS) when his wife gave birth to their second child, a Down's baby. Today, Pueschel is a professor of pediatrics at Brown's University in Providence, Rhode Island, and director of the Child Development Center at Rhode Island Hospital, and he has used the personal experience he gained with his son to help others. He is outspoken about the role physicians play in the lives of these children and their families. Pueschel, who spoke at a recent Canadian Down Syndrome Society national conference in Toronto, says doctors must be aware that their first words to the parents of a Down's baby, and even the body language they use when informing parents that their baby has the genetic defect, are extremely influential. A negative attitude or expressions of sympathy or dismay will only add to the parents' feelings of shock and concern. On the other hand, a positive, tactful and supportive tone will help the family adjust and accept the news. This doesn't mean the physician should be less than truthful and downplay the seriousness of the condition, says Pueschel, but parents should be told that much more is available today to help such infants, everything from improved medical care to earlyintervention programs and parent-support groups. "Doctors
should also stress the critical role the parents will play in their child's life", he says. Although many families might have access to a clinic or pediatrician skilled in managing DS, Pueschel says many do not and this means that the family physicians who do provide care should be aware of the latest information about DS. He says preventive medicine is extremely important, since many problems can be minimized if diagnosed early. Doctors are generally aware of the major health problems faced by babies and children with DS; for example, 40% to 50% have some kind of congenital heart condition and 12% have abnormalities of the gastrointestinal tract. But Pueschel says other problems are less well known. For instance, a recent US study found that about 8% of babies with DS develop a seizure disorder in the first year of life, usually between the 5th and 7th month. Although the disorder, infantile spasm, is more benign in children with DS, it must be diagnosed and treated early to prevent brain damage. Seizures can also occur in young DS adults. Children with DS are also more prone to vision problems that, if uncorrected, will hinder their ability to learn. For example, more than 50% of children with DS have refractive errors and 3% have congenital cataracts. As well, children with DS are also more susceptible to infections, including ear, skin and upper respiratory infections, perhaps because of an immune system defect, and up to 80% will have some kind of
hearing impairment, often caused by fluid buildup in the middle ear. The resulting hearing loss can seriously affect the child's ability to learn and speak and must be diagnosed before too much damage has occurred.
Hypothyroidism is more common among Down's children. Children should be checked annually because it can occur
spontaneously as they
age. About 15% of Down's children show signs of a skeletal abnormality called atlantoaxial instability, which causes certain bones in the cervical spine to slip out of place. They may press on nerves, causing damage. Surgery can correct the
problem. Although physicians and parents should be aware that children with DS are more vulnerable to certain health problems, Pueschel points out that not every Down's child will have many, or even any, of the conditions.
"Family physicians can easily provide general health care for these children", he says. Specific problems can be referred to specialists, including developmental pediatricians, who can help Down's children reach their physical and mental potential. There are no exact figures about life expectancy for people with DS, but some Down's adults are older than 50. Because of advances in surgery and treatment and more positive attitudes among physicians and parents, Pueschel says there is no reason why a Down's infant born in 1990 should not live a happy and healthy life. CAN MED ASSOC J 1990; 143 (6)
547
should also stress the critical role the parents will play in their child's life", he says. Although many families might have access to a clinic or pediatrician skilled in managing DS, Pueschel says many do not and this means that the family physicians who do provide care should be aware of the latest information about DS. He says preventive medicine is extremely important, since many problems can be minimized if diagnosed early. Doctors are generally aware of the major health problems faced by babies and children with DS; for example, 40% to 50% have some kind of congenital heart condition and 12% have abnormalities of the gastrointestinal tract. But Pueschel says other problems are less well known. For instance, a recent US study found that about 8% of babies with DS develop a seizure disorder in the first year of life, usually between the 5th and 7th month. Although the disorder, infantile spasm, is more benign in children with DS, it must be diagnosed and treated early to prevent brain damage. Seizures can also occur in young DS adults. Children with DS are also more prone to vision problems that, if uncorrected, will hinder their ability to learn. For example, more than 50% of children with DS have refractive errors and 3% have congenital cataracts. As well, children with DS are also more susceptible to infections, including ear, skin and upper respiratory infections, perhaps because of an immune system defect, and up to 80% will have some kind of
hearing impairment, often caused by fluid buildup in the middle ear. The resulting hearing loss can seriously affect the child's ability to learn and speak and must be diagnosed before too much damage has occurred.
Hypothyroidism is more common among Down's children. Children should be checked annually because it can occur
spontaneously as they
age. About 15% of Down's children show signs of a skeletal abnormality called atlantoaxial instability, which causes certain bones in the cervical spine to slip out of place. They may press on nerves, causing damage. Surgery can correct the
problem. Although physicians and parents should be aware that children with DS are more vulnerable to certain health problems, Pueschel points out that not every Down's child will have many, or even any, of the conditions.
"Family physicians can easily provide general health care for these children", he says. Specific problems can be referred to specialists, including developmental pediatricians, who can help Down's children reach their physical and mental potential. There are no exact figures about life expectancy for people with DS, but some Down's adults are older than 50. Because of advances in surgery and treatment and more positive attitudes among physicians and parents, Pueschel says there is no reason why a Down's infant born in 1990 should not live a happy and healthy life. CAN MED ASSOC J 1990; 143 (6)
547
