Forty to forty-five percent of children with Down syndrome have congenital heart disease. Thirty three percent of these are endocardial cushion defects, and the remainder are verntricular septal defects. Tetralogy of Fallot and atrial septal defects also occur. (Epstein, 58)
Malformations of the gastrointestinal tract, including intestinal atresia and iperforate anus, occur in about five to ten percent of patients, and there is a reported increased incidence of Hirschsprung’s disease, as well as a higher incidence of gastro-esophogeal reflux. (Epstein, 58)
Seizure activity is also a risk although if you look at the population of all children with mental retardation, there is a very large number (from 20 to 40%) that have epilepsy. The number is quite lower in DS, but it’s still a larger number than in the general population. Studies in the last two decades have estimated the number of people with DS who have seizures to be from 5 to 10%. (Epstein 56)
There appears to be two “peaks” in ages at which the onset of epilepsy is more common in DS. The first peak occurs in the first two years of life. The type of seizure most often seen in this age range is the “infantile spasm.” This type of seizure involves what looks like a spasm of the body, lasting a few seconds, and sometimes not affecting the infant’s state of consciousness. It can also look like a quick drop of the head and/or shoulders if the baby is sitting or standing up. Another type of seizure seen is the generalized “tonic-clonic” seizure (also called “grand mal”); this type of seizure involves the whole body, with stiffening of the trunk and jerking of the extremities, followed by a period of sleepiness. Other types of seizures have been described, including atonic (head-drop) seizures and reflex (myoclonic, “startle”) seizures.
When the second peak occurs is more debatable, with some researchers putting it at 15-25 years, and others putting it in the third decade of life. The most common seizure in this age range is the tonic-clonic seizure, but other types are also seen.
Other associated abnormalities include pulmonary hypertension, upper airway obstruction, obstructive sleep apnea, and an increased incidence of thyroid dysfunction, diabetes mellitus, cataracts, and leukemia.
Electroencephalography has not been shown to have any conclusive diagnostic value for Down syndrome, aside from the diagnosis of associated conditions such as seizure disorders and to some degree Alzheimer’s. However according to Ellingson et al (1970) EEG abnormalities occur in twenty to thirty percent of Down’s patients and are more common in childhood than in adulthood. Gibbs and Gibbs (1964) described bilateral “spike-like” activity over parietal areas in sleep records of DS children and also noted widespread monorhythmic 4/sec waves (chiefly frontal and parietal in the waking state. Prominent occipital high voltage 1-2/sec waves with a sharp component in the terminal phase were also reported (Gibbs and Gibbs, 1964). There are no correlations between EEG abnormalities and special clinical features.(Neidermeyer 373-374)
Currently there is no specific treatment for Down Syndrome, and therapy is focused on treating the associated conditions as well as early intervention for educational needs. Research on Down syndrome is making great strides in identifying the genes on chromosome 21 that cause the characteristics of Down syndrome. Scientists now feel strongly that it will be possible to improve, correct or prevent many of the problems associated with Down syndrome in the future.
In the past it was assumed that due to the nature of the developmental delay with Down syndrome patients, their emotional growth was somehow also stunted. This has been proved to be most untrue. In an emotional and psychological context the adult DS patient goes through the same developmental stages that a non-Down’s syndrome person might. They experience puberty at the same time, with the intimacy needs that are inclusive with that stage in development. Women with Down syndrome are capable of reproduction, however there is a thirty-five to fifty percent chance that their child will also have DS. Males with Down syndrome are generally accepted to be sterile, although there was one documented case in England of a male patient fathering a child. Today people with DS live at home with their families and are active participants in the educational, vocational, social and recreational activities of the community. They are integrated into the regular education system, and take part in sports, camping, music, art programs and all the other activities of their communities. In addition, they are socializing with people with and without disabilities, and as adults are obtaining employment and living in group homes and other independent housing arrangements.
In conclusion, while living with Down syndrome is difficult, and carries with it inherent challenges and unfortunately many health risks, it is possible for the DS patient to live a full and productive life. Social stigmas abound, and the ability to for many people with DS to fully realize their potential is often stunted by well meaning, but poorly educated parents, schools, and health care providers. However, it is only through the collective efforts of parents, professionals and concerned citizens that acceptance is becoming widespread. Individuals with Down syndrome are being employed in small and medium sized offices: by banks, corporations, nursing homes, hotels and restaurants. They work in the music and entertainment industry, in clerical positions and in the computer industry. Like any patient that we see, they should be treated with dignity and respect.
Bibliography
Bruce O. Berg. “Chromosomal Abnormalities and Neurocutaneous Disorders” Clinical
Neurology Ed, T.C. Horowitz Mass. Shlietz & Perriman publishing, 1997. 614-615
Charles J. Epstein “Down Syndrome” Pediatric Neurology. Ed. K.L. Briggs New York
Tellman & Geriwitz publishing, 1998. 49-58
Ernst Niedermeyer, Electroencephalography, Basic principles, Clinical Applications, and
Related Fields. Baltimore. Williams & Wilkins, 1998. 373-374
Rober J. Vosatka “Techniques of Molecular Diagnosis” Avery’s Diseases of the
Newborn. Ed. H William Taeusch. Philadelphia W.B. Saunders Company, 1995. 184-185, 210-213.
Len Leshin, M.D., F.A.A.P. “Trisomy 21: The Story of Down Syndrome” Down Syndrome: Health Issues. www.ds-health.com, 2000
Author Unknown, “National Down Syndrome Society- About DS” National Down
Syndrome Society. www.ndss.org, 2000