Sietske N. Heyn is a medical writer with a PhD in neuroscience. Dr. Heyn's education includes a BS with honors from the University of Oregon, and a doctoral degree in neuroscience from the University of California at Davis. After completing postdoctoral training at the University of California, San Francisco, and many years of working as a medical writer at the Stanford University Center for Down Syndrome Research, Dr. Heyn now runs her own medical writing business.
Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.
Although the genetic cause of Down syndrome is known, there is currently no
cure. Due to advances in technology, scientists are slowly beginning to
understand which genes when present in three copies are responsible for which
Down syndrome characteristics, but it will take many years to fully grasp the
complex interplay between the different genes. Much research to date is focused
on understanding the causes of impaired cognition in Down syndrome and on
finding potential therapies that might improve learning. Most of these studies
are carried out using animal models of Down syndrome, but some human clinical
trials involving potential therapies are also being conducted.
Corrective surgery for heart defects, gastrointestinal irregularities, and
other health issues is necessary for some individuals. Regular health checkups
should be scheduled to screen for other conditions such as visual impairments,
ear infections, hearing loss, hypothyroidism, obesity, and other medical
conditions.
Individuals with Down syndrome should be fully included in family and
community life.
What about early intervention and education for Down syndrome?
It is very important to stimulate, encourage, and educate children with Down
syndrome from infancy. Programs for young children with special needs are
offered in many communities. Early intervention programs, including physical
therapy, occupational therapy, and speech therapy can be very helpful.
What are the needs of infants and preschool children with Down syndrome?
Like all children, children with Down syndrome greatly benefit from being
able to learn and explore in a safe and supportive environment. Being included
in family, community, and preschool life will help a child with Down syndrome
develop to his or her full potential.
While social development and social learning are often quite good,
development in other areas such as motor skills, speech, and language are
usually delayed. Many children with Down syndrome eventually reach most
developmental milestones, but mild to severe learning difficulties will persist
throughout life.
In general, children with Down syndrome are more prone to illnesses, and
vision and hearing impairments, which can contribute to the child's learning
difficulties. Regular health checkups are very important. Some children may have
more severe developmental delays. This could be due to coexisting medical or
psychiatric conditions such as seizures, autism, or ADHD.
Leukemia is a type of cancer of the blood cells in which the growth and development of the blood cells are abnormal. Strictly speaking, leukemia should refer only to cancer of the white blood cells (the leukocytes) but in practice it can apply to malignancy of any cellular element in the blood or bone marrow, as in red cell leukemia (erythroleukemia).
Dementia is a significant loss of intellectual abilities such as memory capacity, severe enough to interfere with social or occupational functioning. There are different criteria classification schemes for dementias such as cortical, subcortical, progressive, primary, and secondary dementias. Other conditions and medication reactions can also cause dementia. Dementia is diagnosed based on a certain set of criteria. Treatment for dementia is generally focused on the symptoms of the disease.
The Eustachian tube is a membrane lined tube that connects the middle ear space to the back of the nose. Problems include partial or complete blockage which can cause popping, clicking, and ear fullness. Allergies, sinus and ear infections, or the common cold can cause this blockage, while altitude changes can cause symptoms in those persons with Eustachian tube problems. Treatment includes several maneuvers (swallowing, chewing gum, yawning etc.), which can be done to improve Eustachian tube function.
Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function, and features of the syndrome include webbed neck, lymphedema of the hands and feet, heart defects, kidney problems, and skeletal abnormalities. The X chromosome is related to Turner syndrome. Treatment focuses on the symptoms of the syndrome.
Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People with Fragile X syndrome suffer from physical, social, emotional, speech, language, sensory, intelligence, and learning impairments. There is no definitive treatment for Fragile X, though there are ways to minimize the symptoms.
Klinefelter syndrome, also referred to as XXY condition, is a genetic disease. Klinefelter syndrome affects mostly males. Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Some men with Klinefelter syndrome have no symptoms. Treatment includes educational, therapeutic, and medical therapy.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Hirschsprung's disease (Hirschsprung), is a disease of the nerve cells of of the large intestine. The primary symptom of Hirschsprung's disease is constipation. Hirschsprung's disease is diagnosed through barium enema, and treatment is surgery.
Pregnancy planning is important to help prevent exposure of the mother and fetus to potentially harmful medications and substances during the early days, and throughout the pregnancy. Nutritional planning, prevention of birth defects, conditions such as high blood pressure, heart disease, diabetes, and kidney disease need careful monitoring. Gestational diabetes, preeclampsia, and pregnancy induced hypertension are conditions that may arise during pregnancy. Immunizations, inherited disorders, exercise, air travel, intercourse, and birth control are important factors to consider when planning a pregnancy.
Spina bifida is the most common neural tube defect in the United States. There are four types of spina bifida; 1) occulta, 2) closed neural tube defects, 3) meningocele, and 4) myelomeningocele. The cause of spina bifida is not known. Theories include genetic, nutritional, and environmental factors. Lack of folic acid during pregnancy is highly suspected. Symptoms of spina bifida vary from individual to individual. Treatment depends on the type of spina bifida the person suffers.
Microcephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain. Microcephaly is caused by genetic abnormalities, or from abuse of alcohol, drugs, infection (for example, German measles or chickenpox), exposure to toxins, or PKU while the mother is pregnant. Symptoms of microcephaly depend upon the severity of the accompanying syndrome. There is not treatment for microcephaly.
Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in chestbone, webbing of the neck as well as heart and blood vessel defects. Named after Dr. Jacqueline A. Noonan it is inherited as an autosomal dominant disorder. The Noonan gene (NS1) is on a nonsex (autosomal) chromosome (number 12) and is transmitted from a parent with a 50% probability to boy or girl. Treatment for Noonan syndrome is directed toward the problems that may occur in a given affected individual. The heart defects may require surgical treatment. The expected outcome (prognosis) depends on the extent and severity of the features that are present.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
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