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WorksheetsGenetic Disorders and Birth Defects
Total questions: 50
Worksheet time: 25mins
One of the main indicators of severe autism is.......
Child is non-verbal
Child has severe aversions to sound
Child has severe aversions to foods and smells.
All of these.
________________is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves.
Cerebral Palsy
Muscular Dystrophy
Neurofibromatosis
Downs Syndrome
__________________ is a group of diseases that cause progressive weakness and loss of muscle mass. Abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle. There are many types of this condition.
Neurofibromatosis
Muscular Dystrophy
Cerebral Palsy
Achondroplasia
______________ is a bone growth disorder that causes disproportionate dwarfism.
Tay-sachs
Downs Syndrome
Seizures
Achondroplasia
Which tests are used to confirm Achondroplasia?
DNA testing combined with fetal ultrasound
Blood Tests & urine samples
There are no prenatal test to confirm Achondroplasia
Genetic testing of parents before pregnancy
Defective blood vessels, leaky valves, shortness of breath and abnormal heart rhythms in children are all signs of______________________.
Marfan Syndrome
Congenital Heart Defects
Achondroplasia
Tay-Sachs Disease
_______________ is caused by the absence of an enzyme that breaks down fatty substances causing a loss of motor skills during infancy.
Achondroplasia
Marfan Syndrome
Huntington's Disease
Tay-Sachs Disease
Children with Tay-Sachs rarely live beyond 4 years of age.
True
False
Which of the following is NOT a symptom of Achondroplasia?
Skeletal dysplasia in bones
Short fingers
Enlarged head
Hearing loss
Which of these is the most common fatal genetic disease in North America?
Cystic Fibrosis
Turner Syndrome
Cerebral Palsy
Huntington's Disease
______________are a category of neurological disorders related to malformations of the spinal cord, such as spina bifida, anencephaly, meningocele, myelomeningocele and tethered spinal cord syndrome.
Neural Tube Defects
Cleft Lip / Pallet
Marfan Syndrome
Achondroplasia
Which of these IS NOT a method of diagnosing Neural Tube Defects in infants?
During the 12 week ultrasound
During the 18-20 week "anomaly ultrasound'
During a blood test that scans for elevated AFP in the mother's blood.
During urinalysis carried out at the regular 4 week prenatal visit.
This nutrient helps prevent Neural Tube defects.
Folic Acid
(B vitamin)
Vitamin C
Vitamin D
Vitamin A in leafy green vegetables
The majority of babies with Neural Tube Defects do not survive.
True
False
_________________ is a condition in which a female infant is born with one missing or incomplete sex chromosome.
Turner Syndrome
Tay-Sachs Disease
Cerebral Palsy
Huntington's Disease
Turner Syndrome causes all of the following except.......
Short stature
Infertility
Heart defects
Blindness
Specific genetic testing can detect Turner Syndrome and is usually given to all infants born in a hospital setting.
True
False
Which of the following IS NOT true of clubfoot diagnosis?
10% diagnosed by 1o weeks of pregnancy
80% diagnosed by 24 weeks of pregnancy
Usually diagnosed visually by ultrasound or immediately after birth
Often diagnosed when the child begins trying to walk at 10 -14 months of age.
Most cases of ______________ are successfully treated with nonsurgical methods that may include a combination of stretching, casting, and bracing.
Muscular Dystrophy
Clubfoot
Cerebral Palsy
Achondroplasia
The only cures for _______________ are stem cell and bone marrow transplants.
Hemophilia
Cystic Fibrosis
Sickle Cell Anemia
Turner Syndrome
There is currently no cure for ___________. Effective treatments do exist, but they are expensive and involve lifelong injections several times per week to prevent bleeding.
Hemophilia
Turner Syndrome
Sickle Cell Anemia
Cystic Fibrosis
Though caused by an inherited genetic mutation, _________________ is not usually diagnosed until age 30-40.
Marfan Syndrome
Cystic Fibrosis
Turner Syndrome
Huntington's Disease
__________________________ is a rare, inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain.
Down Syndrome
Neural Tube Defects
Huntington's Disease
Marfan Syndrome
About 95 percent of the time, ___________________ is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells.
Huntington's Disease
Down Syndrome
Neural Tube Defects
Cystic Fibrosis
______________ caused by abnormal cell division during the development of the sperm cell or the egg cell and thus linked to parental age at conception.
Down Syndrome
Sickle Cell Anemia
Turner Syndrome
Hemophilia
When someone is having a seizure do all but which of the following?
Get people out of the way.
Make sure they’re out of the way of sharp objects.
Don’t try to stop their movements.
Make sure they don't swallow their tongue.
Should you turn a person having a seizure on their side?
Yes
No
Confusion, staring, incontrollable movement, & loss of consciousness or awareness are all signs of ______________.
Tay-sachs Disease
A Seizure
Severe Autism
Marfan Syndrome
Seizures occur along a wide spectrum and only SOME indicate Epilepsy.
True
False
Some heart defects are simple and don’t need treatment.
True
False
_____________ may require spine decompression to free the compressed spinal cord or nerve roots.
Achondroplasia
Cleft Lip/ Palette
Neural Tube Defects
Huntington's Disease
Cleft LIp/Paette is associated with hearing loss.
True
False
Flap Surgery is used to correct__________.
Sickle Cell Anemia
Clubfoot
Cleft Lip/ Palette
Neural Tube Defects
Clubfoot is always treatable with braces and casts and never needs surgery for correction.
True
False
Sickle Cell Anemia often speeds up the arrival of puberty.
True
False
A shortened Achilles tendon can cause ___________________.
Pain
Hemophilia
Clubfoot
Cystic Fibrosis
Spastic, Diskinetic , Ataxic, and Mixed are all types of __________________.
Muscular Dystrophy
Cerebral Palsy
Sickle Cell Anemia
Turner Syndrome
A lack of B vitamins during pregnancy can lead to blindness, lack of consciousness, or possibly death in the infant.
True
False
Life expectancy after diagnosis of Huntington's Disease is ___________.
15-20 Months
15-20 years
2-4 years
normal
___________occurs when the tissue of the baby's face doesn't fuse properly during pregnancy.
Clubfoot
Cleft Lip/ Palette
Seizures
Down Sydrome
Tiny white spots on the iris, a single line across the palm, flattened bridge of the nose, and almond shaped eyes (slanted up) are indicators of ___________________.
Down Syndrome
Huntington's Disease
Marfan Syndrome
Achondroplasia
Osteotomy (cutting bone) to correct uneven growth or abnormal rotation of the bones is a common treatment for _______________.
Sickle Cell Anemia
Down Syndrome
Tay -Sachs Disease
Achondroplasia
The symptoms of Tay-Sachs Disease (loss of motor skills, exaggerated reactions to noise, seizures, vision & hearing loss, & muscle weakness) usually appear around the age of ____________
10 years
6 years
1 year
6 months
What percentage of Epileptic Seizures are facial only?
20%
30%
60%
80%
The average lifespan for a person with Down Syndrome is ________________.
60 years
25 years
5 years
10 years
One treatment for children with Down Syndrome is ____________.
Medication
Diet
Surgery
Speech Therapy
People with Muscular Dystrophy often live to ____________ now.
15-20
20-25
30-40
40-50
Muscle biopsy is one method of diagnosing _____________.
Muscular Dystrophy
Cerebral Palsy
Down Syndrome
Cystic Fibrosis
__________________is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves.
Cystic Fibrosis
Cerebral Palsy
Huntington's Disease
Neurofibromatosis
A common treatment for Neurofibromatosis is _____________.
Braces/ Casts
Surgery / Chemotherapy
Seizure Medications
