Lecture 13

Question 1

What is Hemophilia?

Answer 1

X-Linked Recessive
DisorderImpaired clotting capability
Pain
Reduced ROM and Strength in affected joints (bleeding occurs)Hinge joints (knee, elbow, ankle) most typically affected

Question 2

What is the prevalence of joint contracture in patients with severe form of hemophilia?

Answer 2

Between 50% and 95%

Question 3

What are contractures a result of (in reference to Hemophilia?

Answer 3

Recurrent hemarthroses and intramuscular bleeding episodes

Most frequently involve knee flexion, elbow flexion, ankle plantar flexion.

Question 4

Are recurrent intramuscular hemorrhages common?

Answer 4

No, they are rare. A single, large hematoma can cause permanent joint contractue because the large volume of blood will cause localized necrosis.As blood as reabsorbed, dead muscle fibers are replaced by fibrous tissue in a shortened position. This occurs in about 10% of all muscle hemorrhages and is most common in the plantar flexor and forearm muscles (multiple hemorrages with frequent immobilition can also result in muscle shortening around a joint)

Question 5

As hemarthroses recur, what else might occur in the body?

Answer 5

Synovial hypertrophy and eventual articular cartilage destruction

Bony changes (such as genu valgus)

Posterior subluxation of the tibia

Osteophytes

Changes may restrict ROM permanently

Muscle weakness is usually found around affected joints.

See Campbell Ch E-3

Question 6

How is Hemophilia treated?

Answer 6

Minimizing joint trauma and hemorrhages
Proactive muscle strengthening
Promote cardiovascular fitness in recreational activities
Elastic pressure bandages and ice for muscle hemorrhages
Immobilization, gentle ROM for joint hemorrhages
Adapt normal developmental tasks and challenges
Medications
Frequent hospitalizations
Alterations in family relationshipsPhysiological aspects of the disease itself, medications and other forms of treatment, frequent hospitalizations, disruptions in daily activities alterations in family relationships are some of the potential factors that may restrict the normal development in chronically ill children!!

Question 7

What is sickle cell anemia? Symptoms

Answer 7

Body makes sickle-shaped red blood cells. “Sickle-shaped” means that the red blood cells are shaped like a “C.” Clumps of sickle cells block blood flow in the blood vessels that lead to the limbs and organs.

Pain
Serious infections
Organ damage
Sickle cells are destroyed rapidly in the body of people with the disease causing anemia, jaundice and the formation of gallstones.
acute chest syndrome
stroke
Priapism (painful prolonged erection).
Damage to most organs including the spleen, kidneys and liver.
Damage to the spleen makes sickle cell disease patients, especially young children, easily overwhelmed by certain bacterial infections i.e. they get very sick more easily; infection control measures are even more important

Question 8

How is Sickle Cell Anemia treated?

Answer 8

Health maintenance
Early diagnosis, preferably in the newborn period Penicillin prophylaxis
Vaccination against pneumococcus bacteria
Folic acid supplementation

Treatment of complications:
Antibiotics
Pain management
Intravenous fluids
Blood transfusion
Surgery
Eliminate iron overload

Question 9

What kind of cancer makes up one third of childhood cancers?

Answer 9

Leukemia

Question 10

What is the most common type of Leukemia?

Answer 10

ALL - Acute Lymphoblastic Leukemia

Question 11

Children with this diagnosis are at an increased risk for Leukemia.

Answer 11

What is Down Syndrome?

Question 12

What accounts for half of childhood cancers? What are the causes?

Answer 12

Leukemias and cancer of the brain and CNS account for half of childhood cancers
Causes are generally unknown

Question 13

How was childhood cancers treated?

Answer 13

IMMUNOTOXINS THAT TARGET CANCER CELL WALLS!

Also, surgery, radiation, chemotherapy, and Immunotherapy to improve immune system

Question 14

What are common symptoms of Gastroesophageal Reflux (GERD)?

Answer 14

Constant or sudden crying – or colic-like symptom Irritability and pain
Poor sleep habits typically with frequent waking Arching their necks and back during or after eating. Spitting-up or vomiting
Wet burp or frequent hiccups
Frequent ear infections or sinus congestion

Question 15

What are the key symptoms indicative of GERD?

Answer 15

Refusing food or accepting only a few bites despite being hungry
Food/oral aversions
Swallowing problems
Gagging
Choking
Apena
Respiratory problems - pneumonia, bronchitis, wheeing, asthma, night-time cough, aspiration
Poor weight gain
Weight loss,
Failure to thrive
Neck aching (Sandifer’s Syndrome)See PPT for all symptoms

Question 16

What is Tracheosophageal fistula (TEF)?

Answer 16

An embryological malformation - a congenital or acquired communication between the trachea and esophagus.

TEFs often lead to severe and fatal pulmonary complications.

Question 17

What is the incidence rate of TEF?

Answer 17

incidence of 1 case in 2000-4000 live births(bolded in the PPT. Good to know)

Question 18

When are patients with TEF diagnosed?

Answer 18

Immediately following birth or infancy, usually in the neonatal period.

TEFs are often associated with life-threatening complications.

Infants in 3rd world countries die without the surgery—Survival rates of 100% can be achieved in infants who do not have severe associated congenital anomalies.

Question 19

What is an Omphalocele?

Answer 19

Birth defect in which the infant’s intestine or other abdominal organs stick out of the belly button (navel).

It is a type of hernia

Intestines are covered only by a thin layer of tissue and can be easily seen.

An omphalocele can be clearly seen, because the abdominal contents stick out (protrude) through the belly button area. Sizes vary - different organs may stick out as a result

Question 20

How are Omphaloceles treated?

Answer 20

Omphaloceles are repaired with surgery, although not always immediately!!! A sac protects the abdominal contents and allows time for other more serious problems (such as heart defects) to be dealt with first, if necessary.

To fix an omphalocele, the sac is covered with a special man-made material, which is then stitched in place.

Slowly, over time, the abdominal contents are pushed into the abdomen.When the omphalocele can comfortably fit within the abdominal cavity, the man-made material is removed and the abdomen is closed.

Question 21

What is the cause of an Omphalocele?

Answer 21

An omphalocele develops as a baby grows inside the mother’s womb. The muscles in the abdominal wall (umbilical ring) do not close properly. As a result, the intestine remains outside the umbilical cord.

Question 22

What % of babies with Omphalocele also have other birth defects?

Answer 22

Approximately 25 - 40% of infants with an omphalocele have other birth defects.

Question 23

How is Omphalocele diagnosed?

Answer 23

Prenatal ultrasounds often identify infants with an omphalocele before birth. Otherwise, a physical examination of the infant is enough for your health care provider to diagnose this condition. Testing is usually not necessary.

Question 24

What is the prognosis for the baby after surgery for Omphalocele?

Answer 24

Complete recovery, unless other birth defects exist.

Question 25

What is Juvenile Idiopathic Arthritis (JIA)?

Answer 25

Chronic joint inflammation thought to be an autoimmune disorder in response to infection or trauma – A GROUP OF DISEASES common hindfoot (calcaneal) eversion with pronation

Question 26

What are the 3 types of JIA ?

Answer 26

Systemic

Polyarticular

Oligoarticular.

Question 27

What is systemic JIA?

Answer 27

multisystem involvement in addition to multiple joint pain and inflammation.
May include pericarditis, myocarditis, hepatosplenomegaly

Question 28

What is polyarticular JIA?

Answer 28

5 or more joints affected

Usually symmetrical distribution.

Knees and ankles frequently involved; (elbows, wrists, and fingers less often and rarely cervical spine).

More prevalent in girls.

Question 29

What is Oligoarticular JIA?

Answer 29

4 or fewer joints affected

Question 30

What is the most frequent JIA seen?

Answer 30

Oligoarticular

Question 31

How is JIA treated?

Answer 31

Functional limitations dependent on pain and joint mobility limitations

Organ system involvement

Endurance : self-range of motion and positioning programs

Rest inflamed joints while reducing the risk of contracture or increasing deformity

Gait is usually affected through diminished velocity and stride length with antalgic characteristics.

Question 32

What is the rate of childhood obesity?

Answer 32

16% of children 6-19 years old are overweight or obese (over 9 million

Has more than doubled for preschool children aged 2-5 years and adolescents aged 12-19 years (BOLDED)2.

More than tripled for children aged 6-11 years

Overweight adolescents 70 percent chance of becoming overweight or obese adults.

80% if one or more parent is overweight or obese

Question 33

When does the arch of the foor develop?

Answer 33

Age 6