It is important for parents and physicians to know which chromosome or piece of chromosome is extra. Knowing the correct result will help with providing information on occurrence or recurrence, education about inheritance, and information on medical management and research opportunities.
Rebecca Okashah Littlejohn, MS, CGC
Certified Genetic Counselor
The Children’s Hospital of San Antonio
According to the March of Dimes, about one in 150 babies is born with a chromosome condition.¹ Chromosomes are structures in each of our cells made of tightly coiled DNA. Portions of DNA are called genes. Genes provide the specific instructions that tell our bodies how to grow and develop. Most people have 23 pairs of chromosomes in most of all of their cells for a total 46 chromosomes.
Some individuals have three copies of an entire extra chromosome (i.e. full trisomy) or part of an extra chromosome (i.e. partial trisomy or duplication). The “tri” in trisomy means three and “somy” in trisomy means chromosome. An extra chromosome or part of an extra chromosome can occur in some cells or all cells.
Having a partial or extra chromosome can cause variable health problems. A trisomy can occur with any chromosome, but the three most well-known trisomy conditions are Trisomy 21 (Down syndrome), Trisomy 18 (Edwards Syndrome), and Trisomy 13 (Patau syndrome). We often find that individuals with the same or similar extra copy of chromosome may have similar health or developmental problems. For example, individuals with Trisomy 21 or Down syndrome usually have mild-to-moderate intellectual disability and developmental delay, heart abnormalities, hearing and vision problems, thyroid problems and a number of other problems. Individuals with Trisomy 21 may have some or all of these health problems.
There are also other conditions where individuals have a partial extra chromosome like partial trisomy of chromosome 16p11.2 (i.e. duplication of chromosome 16p11.2). Individuals with this condition often have a low weight, a small head size (microcephaly), and developmental delays, especially in speech and language. Affected individuals also have an increased risk of behavioral problems.6 Individuals with duplication of chromosome 16p11.2 may have some or all of these health problems.
It is important for parents and physicians to know which chromosome or piece of chromosome is extra. Knowing the correct result will help with providing information on occurrence or recurrence, education about inheritance, and information on medical management and research opportunities. Families are also encouraged to find a support group. Support groups whether at the local, state, or national levels can offer resources on challenges that individuals with these conditions may face.
Please join The Children’s Hospital of San Antonio in supporting National Trisomy Awareness Month and celebrating all those individuals with trisomy.
The Genetics Clinic at The Children’s Hospital of San Antonio provides evaluation, diagnosis, genetic counseling, treatment, and management of pediatric and adult patients. Talk to your doctor about a referral to the Genetics Clinic.
Patricia A. Clarke, MSN, APRN, CPNP, CPHON
Pediatric Nurse Practitioner, Hematology Oncology
The Children’s Hospital of San Antonio
March is National Bleeding Disorders Month
Our bodies are designed to stop the bleeding when we are cut or injured. The job of the blood is to carry oxygen to our brain and other tissues, so our blood needs to stay inside our bodies. Our blood has many substances to be able to form clots and stop the bleeding. When a person is missing some of these substances or the substances do not work correctly, bleeding can continue for too long. This is called a bleeding disorder.
How do I know if my child has a bleeding disorder?
Some families know their children have a bleeding disorder because it is inherited. Inherited means the disorder is present in other family members (perhaps parents, grandparents, sisters or brothers). Other families may not know their child has a bleeding disorder until the child bleeds for too long after a cut, an injury, surgery or even dental work. Children often fall and get bruises when they play outside, this is normal. Some children bruise a lot and bruises appear in unusual places, or the child can’t remember hurting themselves. Unusual, unexplained bruising might be a reason to suspect a bleeding disorder. Sometimes medications that a child may be taking can cause abnormal bleeding. Illness may cause easy bleeding, but this should go away after the child gets well.
Who can care for my child with a bleeding disorder?
Always report unusual bruising or bleeding (like nosebleeds that do not stop easily) to your child’s pediatrician. The pediatrician may order tests in their office to find reasons for the bleeding or bruising. The pediatrician might refer the child to a specially trained doctor called a pediatric hematologist. A pediatric hematologist knows how to take care of people with bleeding disorders. Sometimes medications can be given for bleeding disorders, and other times medications are not necessary.
What do I need to know to keep my child safe if he or she is diagnosed with a bleeding disorder?
- Avoid giving your child certain medications (such as aspirin or ibuprofen) which can make bleeding more likely.
- Certain activities such as rough contact sports may be restricted.
- Enforce wearing of helmets when riding a bike and wearing seat belts while riding in the car.
- Keep all follow-up appointments with the pediatrician and pediatric hematologist; take all medications as prescribed.
- Inform the school nurse and teachers about your child’s condition and what to do in case of emergency, including administration of prescribed medications.
- Let friends and playmates know what to do in case the child gets cut or injured.
- All new doctors and dentists must be informed your child has a bleeding disorder, especially if the child needs surgery or major dental work.
- Have your child wear a medical alert bracelet/necklace. These are inexpensive and available for purchase online. Medical alert bracelets/necklaces identify a child with a bleeding disorder to people who may not know the child.
If you need help finding a pediatrician or a physician who specializes in pediatric hematology, visit www.chofsa.org/findadoc.
Samiya Ahmad, MD
Pediatric Neurologist and Sleep Medicine Physician
The Children’s Hospital of San Antonio
Diplomate of the American Boards of Sleep Medicine, Neurology and Psychiatry with Special Qualification in Child Neurology
March 15 is World Sleep Day
Spring is upon us and so is World Sleep Day on March 15 this year. World Sleep Day was established to promote the understanding that sleep is a privilege that is compromised all too often by the rigors of modern life demands.
Profound, huh? Not so mind boggling if you know exactly why sleep is so important for you and your family.
Why is sleep important?
We spend a third of our lives sleeping. Children under 2 years spend over half of their lives sleeping. It is the principle activity of the developing brain. Sleep is a basic human need, like eating and drinking.
Insufficient or inadequate sleep can negatively affect well-being by impairing memory, attention span, and learning capabilities. Chronic sleep deficits can lead to obesity, weakened immune system, high blood pressure, heart disease, and diabetes.
Do you know these sleep facts?
- Sleep-related accidents account for 71,000 injuries each year in the U.S.
- 1,550 people die of sleep-related accidents
- Sleep problems are reaching epidemic proportions and affect the quality of life for up to 45 percent of the world population
- Sleep disorders are almost always preventable and treatable, however only one-third of affected people seek medical help
How can I ensure good sleep?
- Maintain a consistent, age appropriate bedtime and wake-up time
- Bedtimes before 9 p.m. for children are associated with better quality sleep
- Establish dim light conditions one hour prior to bedtime; this is the most potent stimulant for the natural secretion of melatonin
- Avoid use of electronic entertainment 30 minutes prior to bedtime
- Establish and nurture a relaxing bedtime routine
- Schedule age appropriate naps (naps phase out after age 5)
- Exercise regularly, but not too close to bedtime
- Enjoy sunshine during the day
- Avoid caffeine after 4 p.m. and 6 hours prior to bedtime
- Create a comfortable sleep environment with appropriate bedding and ambient temperature, in a quiet, dark, and well-ventilated room
- Use bed only for sleeping and avoid eating, reading, and doing homework in it
How much sleep does my child need?
- 0-2 month: 12-18 hours
- 3-11 months: 14-15 hours
- 1-3 years: 12-14 hours
- 3-5 years: 11-13 hours
- 5-10 years: 10-11 hours
- 10-17 years: 8.5-9.25 hours
- Adults: 7-9 hours
If you child is experiencing sleep problems, talk to your pediatrician and ask for a referral to a pediatric sleep doctor at The Children’s Hospital of San Antonio.
If you need help finding a pediatrician, visit http://www.chofsa.org/pediatricians.
Ruchi Kaushik, MD, MPH, FAAP
Assistant Professor, Pediatrics
Baylor College of Medicine
Medical Director, ComP-CaN (Comprehensive Peds for Complex Needs)
Medical Director, Children’s Hospital of San Antonio Blog
The Children’s Hospital of San Antonio
National School Breakfast Week is March 4-8
Do your school-aged children get a healthy start to every morning? Is your teen sleeping past the alarm and dashing out the door with an empty belly? You have likely heard that breakfast is the most important meal of the day, but why? Children who chow down on the first meal of the day have been found to have:
- Better memory
- Better test scores
- Better attention span
- Decreased irritability
- Healthier body weights
- Improved overall nutrition
But, oh my word, rushed mornings are tough! So how can you set them up for caloric success and make sure they slide into their seats before the bell?
- Stick to a Routine Plan your morning minutes to include enough time to sit and eat as a family so children do not feel rushed. This may mean setting the alarm 10-15 minutes earlier.
- Dine and Dash Although ideally pediatricians recommend that families share meal time together, we also realize this is not always possible. If time is limited, plan quick or grab-n-go meals such as cold cereal with fat-free or low-fat milk, bagels with reduced fat cream cheese, homemade muffins, fruit and yogurt, or hard-boiled eggs. Cereal bars and granola bars are also good options, but be sure to read labels and avoid excessive sugars and corn syrup. If you have time the night before, consider making your own granola. Teens should not use coffee or energy drinks to replace meals.
- Sleep Older children and teens often do not stick to a scheduled bedtime and will wake up cranky or too nauseous to eat. Stick to a routine and be sure to encourage sufficient sleep time in your home. For more information, keep your eye out for our sleep blog on World Sleep Day, March 15.
- School Breakfast! March 4-8 is National School Breakfast Week and schools make it a point to craft healthy, nutrient-dense menus for your child. Plan for your child to have breakfast at school and they will always be on time!
If you need some quick and easy recipe ideas for breakfast, check out the CHEF program website. Find healthy recipes online by visiting www.chefsa.org/recipes-for-life.