HHS 12: Child Studies Unit

Diseases & Birth DefectsDiseases & Birth Defects

What Are Birth Defects?

•Birth defects: an abnormality of the baby’s bodily structure, function or metabolism that is present at birth.

•These abnormalities may be fatal or lead to mental or physical disabilities.

•150,000 babies are born each year with birth defects (1 out of 28 babies)

Common Causes:

1. Chromosomal Abnormalities An error occurs when an egg or sperm cell develops. It is not known why these errors occur.Example: Down Syndrome

2. Genetic Information is passed down through generations from parents to children.Examples: Cystic Fibrosis, Muscular Dystrophy

3. Environmental Factors:Such as: pregnant mother consuming alcohol, cigarettes, illegal drugs, prescription/over the counter medications, etc.

Example: Fetal Alcohol Syndrome (FAS)

1. Down Syndrome(Genetic in nature, but not (Genetic in nature, but not hereditary) hereditary)

Cause-Cause- The child gets an extra chromosome 21 — for a total of 47 chromosomes instead of 46. This extra genetic material causes the physical features and developmental delays.

Description:Description: Intellectual Disability Poor muscle tone & heart

defects Physical similarities (facial

& body)

http://www.youtube.com/watch?v=OdDEi2EaqHM

Life Expectancy:

Age 60 Many physical complications are

associated with DS, such as: heart disease, Alzheimer’s and an increased likelihood of leukemia

http://video.about.com/pediatrics/Down-Syndrome.htm

Amniocentesis:Amniocentesis:

About 90-93% of Down Syndrome fetus' are aborted

a test performed between 16 -18 weeks of a woman's pregnancy.

The doctor inserts a hollow needle into the woman's abdomen and tests fluid for genetic problems.

May cause harm to the fetus; optional!

Group Work:

1. Make a list of challenges that would come with being a PARENT of a DS child

2. Make a list of challenges that would come with being a DS CHILD

3. You are at 16 weeks of pregnancy and the doctor determines through amniocentesis that your child will have DS. What do you do?

2) Cystic Fibrosis (CF)

Is genetic/hereditary: passed down through families

A defective gene causes thick, sticky mucus to build up in the lungs, digestive tract, and reproductive systems.

It is life-threatening!

Millions of people carry the defective CF Millions of people carry the defective CF gene, but gene, but do not have any symptomsdo not have any symptoms (a (a person with CF must inherit two person with CF must inherit two defective CF genes -- one from each defective CF genes -- one from each parent)parent)

It is the most common, fatal, genetic It is the most common, fatal, genetic disease in Canada!disease in Canada!

Parents can get tested to see if they Parents can get tested to see if they carry the gene and the fetus can be carry the gene and the fetus can be checked via amniocentesischecked via amniocentesis

http://video.about.com/cysticfibrosis/Cystic-Fibrosis.htm

http://www.youtube.com/watch?v=kCSjfxm1jgY

Symptoms of CF in newborns may include:

•Delayed growth

•Failure to gain weight normally during childhood

•No bowel movements in first 24 - 48 hours of life

•Salty-tasting skin

•Belly pain from severe constipation

•Increased gas, bloating, or a belly that appears swollen

•Nausea and loss of appetite

Kirstie Mills Tancock- Britain

TLC: “A Breathless Bride; Dying to Live”

http://www.youtube.com/watch?v=Ru1CWjfix54&feature=relmfu http://www.youtube.com/watch?v=-fQAycSB9fw&feature=chann

el http://www.youtube.com/watch?v=8ZJyVXfko1I&feature=relmfu

Last Class…

What happens? A defective gene causes thick, sticky mucus to build up in the lungs, digestive tract, and reproductive systems.

Is it hereditary?

YES! YES!

A person with CF A person with CF must must inherit two inherit two

defective CF genes defective CF genes -- one from each -- one from each

parent. parent.

You decide…

The average life expectancy for someone with CF is 36-38 years of age.

Sufferers may face a lifetime of illness, medication use, hospital visits, waiting on a transplant list, etc.

Given the option at 18 weeks of Given the option at 18 weeks of pregnancy to terminate, what pregnancy to terminate, what

would you do?would you do?

Infertility & Cystic Fibrosis:

Some men diagnosed with CF will not be able to reproduce children naturally- his sperm will not be able to reach the ejaculatory duct (still has the option of IVF- In Vitro Fertilization).

Muscular Dystrophy

Inherited disorders that involve muscle weakness & loss of muscle tissue, which get worse over time.

May occur in childhood or adulthood and most common in BOYS

There are many different types of MD.

All or some of the muscles may be affected.

Genetic counseling is advised when there is a family history of muscular dystrophy.

Women may have no symptoms but Women may have no symptoms but still carry the gene for the disorder. still carry the gene for the disorder.

Living with Muscular Dystrophy

http://www.youtube.com/watch?v=6wLnR7GJakY&feature=relmfu

Bryan Arnold Bryan Arnold Ankorage, Alaska http://www.youtube.com/watch?v=ZrPnmgs4rHM

Fetal Alcohol Syndrome

CauseCause - exposure to alcohol before birth SeveritySeverity depends on when, how much, and

how often exposed. 100% preventable100% preventable (by NOT drinking while

pregnant!)FAS children have the following physical

characteristics: Small birth weight Small birth weight

Small head circumference Small head circumference Small eye openings Small eye openings

Smooth, wide philtrum Smooth, wide philtrum Thin upper lipThin upper lip

Common Physical Characteristics of Fetal

Alcohol Syndrome (FAS)

Prenatal exposure to alcohol Prenatal exposure to alcohol maymay cause cause the following the following physiological effectsphysiological effects::

Attention deficits (ADD/ADHD)Attention deficits (ADD/ADHD)Memory deficits Memory deficits

Hyperactivity Hyperactivity Poor problem solving skillsPoor problem solving skillsImmature social behavior Immature social behavior

Lack of control over emotions Lack of control over emotions Poor impulse control Poor impulse control

Poor judgment Poor judgment

http://www.youtube.com/watch?v=QuBBLEf2u7I

Facial characteristics may Facial characteristics may notnot be as be as apparent immediately after birth or during apparent immediately after birth or during adolescence or adulthood as they are adolescence or adulthood as they are between the ages of 2-10between the ages of 2-10.

Facial characteristics may not be present at Facial characteristics may not be present at all if the mother did not drink alcohol during all if the mother did not drink alcohol during the brief period that the mid-face was the brief period that the mid-face was formingforming - around the 20th day of pregnancy.

http://www.youtube.com/watch?v=dTGWdcWjuZ8

Each year in Canada, between 123 - Each year in Canada, between 123 - 740 babies are born with FAS!740 babies are born with FAS!

http://www.youtube.com/watch?v=4QOobVCbz2A

SmokingSmoking During Pregnancy May During Pregnancy May Cause:Cause:

Increase risk of pregnancy complications-Increase risk of pregnancy complications-ex: ex: premature deliverypremature delivery

Low birth weightLow birth weight Increase in Increase in respiratory problems- respiratory problems- ex: ex:

asthma asthma Increase in Increase in ectopic pregnancyectopic pregnancy Heart defects, missing/deformed limbs, Heart defects, missing/deformed limbs,

clubfoot, gastrointestinal disorders, and clubfoot, gastrointestinal disorders, and facial disorders facial disorders (for example, of the eyes (for example, of the eyes and cleft lip/palate).and cleft lip/palate).

What Is an Ectopic Pregnancy?

Ectopic means "out of place." In an ectopic pregnancy, a fertilized egg has implanted outside the uterus.

The egg settles in the fallopian tubes, often called "tubal pregnancies."

As the fetus grows, it will eventually burst the organ that contains it. This can cause severe bleeding and endanger the mother's life.

A classic ectopic pregnancy never develops into a live birth.

http://www.youtube.com/watch?v=HsYHtczWiWI&feature=related

Other Birth Defects:

1. Cerebral Palsy1. Cerebral Palsy

2. Spina Bifida2. Spina Bifida

Cerebral PalsyCerebral Palsy

is caused by an injury injury to the brain to the brain before, before, during, or shortly after during, or shortly after birthbirth.

In many cases, no one knows for sure what caused the brain injury or what may have been done to prevent the injury. 

Alex Bilodeau & his brother

Canada’s First Gold Medal at the Vancouver 2010 Olympics!

http://www.youtube.com/watch?v=yxxmUq8Howghttp://www.youtube.com/watch?v=IVWkDvv-npQ&feature=related

What is Cerebral Palsy?What is Cerebral Palsy?

• Unable to fully control motor function (body movements), particularly muscle control and coordination.

• Depending on which areas of the brain have been damaged, people with cerebral palsy may experience one or more of the following:

Muscle tightness or spasm, involuntary movement, poor mobility, impairment of sight, hearing, or speech, seizures, etc.

Rick and Dick HoytRick and Dick Hoyt

Http://www.youtube.com/watch?v=64A_AJjj8M4

http://www.youtube.com/watch?v=CoIA36CSTXk

http://www.teamhoyt.com/index.html

Spina BifidaSpina Bifida

The development of the brain, spinal cord, and/or meninges (the protective covering around the brain and spinal cord) is UNDEVELOPEDUNDEVELOPED.   

Spina BifidaSpina Bifida

http://www.iifar.org/Spina_Bifida_Symptoms_Causes_Treatment.html

The exact cause of spina bifida exact cause of spina bifida remains a mysteryremains a mystery.

No one knows what disrupts complete disrupts complete closure of the neural tube, causing a closure of the neural tube, causing a malformation to developmalformation to develop.

Scientists suspect that the cause is multi-factoral: genetic, nutritional, genetic, nutritional, and environmental factors play a role.and environmental factors play a role.

In most cases, spina bifida is diagnosed prenatallydiagnosed prenatally, or before , or before birth; birth; however, some mild cases some mild cases may go unnoticed until after birth may go unnoticed until after birth (postnatal).

There is no cureno cure. The spinal opening can be surgically repaired surgically repaired shortly after birth, shortly after birth, but the nerve but the nerve damage is damage is permanentpermanent, resulting in , resulting in varying degrees of paralysis of the varying degrees of paralysis of the lower limbs.lower limbs.

Living With Spina BifidaLiving With Spina Bifida

http://www.youtube.com/watch?v=PqUDdxm-qSA

http://www.youtube.com/watch?v=4Fi-miRqjHs