downs Syndrome

Question 1

what is the Baground information about Downs Syndrome?

Answer 1

Most common cause of developmental disability
Occurs in 1 of 800-1000 live births
First described by John Langdon Down in 1866

Question 2

what is the Cause of Downs Syndrome?

Answer 2

Caused by trisomy of the 21st chromosome
85% caused from maternal errors in meiosis
Risk increases with maternal age

Question 3

how do we diagnos Downs Syndrome?

Answer 3

During pregnancy
Fetal ultrasound analysis
Amniocentesis
After birth
Karyotyping 
Suspicions based on physical features

Question 4

what are some of the physical features of Downs Syndrome?

Answer 4

Brachycephaly (Short, broad head)
hands 
Bradydactyly (short fingers)
Broad hands
5th finger clinodactyly (curving in of the little finger)
Single palm creased

Question 5

what is Duodenal Atresia?

Answer 5

Complete obliteration of the duodenal lumen

Treated with surgery

Question 6

what are some of the facial features of Downs Syndrome?

Answer 6

Epicanthal folds of the eyes
Almond shaped eyes
Flat nasal bridge
Small, open mouth
Protruding tongue
Short widened neck
Small, low-set ears

Question 7

what are some of the features of the feet with downs syndrome?

Answer 7

AKA sandal toe gap

Between big toe and second toe

Question 8

what are the body features?

Answer 8

Hypotonia
Ligament flexibility
Short stature
Delayed growth
Shorter life expectancy

Question 9

what are some of the medical concerns associated with the heart and Gastrointestinal issues?

Answer 9

Congenital heart disease (in 40-50%)
Gastrointestinal abnormalities
E.g. Celiac disease

Question 10

what are some of the medical concerns associated with ear, nose and throat?

Answer 10

Ear infections

Hearing loss

Question 11

what are some of the oral health issues?

Answer 11

Misaligned bite

Gum disease

Question 12

what are some of the Skin conditions?

Answer 12

Bald spots
Eczema
Chapped lips
Dry skin
Wrinkled tongue

Question 13

what are some of the eye conditions?

Answer 13

Brushfield spots
Cataracts
Strabismus (lazy eye)
Nystagmus (eye movements)
Require glasses

Question 14

what are some reproductive health issues?

Answer 14

Fertility
Males infertile
Females 50% chance of child also having Down syndrome
Early menopause
Menstrual problems

Question 15

what are some other related health conditions?

Answer 15

Thyroid abnormalities
Diabetes
Hematological (blood) abnormalities
Leukemia and testicular cancer
Obesity
Arthritis
Atlantoaxial instability
Seizures
Alzheimer’s Disease 
Sleep disorders

Question 16

what are some intellectual functioning concerns?

Answer 16

Most have mild to moderate intellectual disability
Slower development in language, non-verbal problem-solving skills, and short-term memory
Most can read to some extent

Question 17

what are some speach and language concerns?

Answer 17

Poor speech intelligibility caused by:
Dysarthria- difficulty with the strength and precision of muscle movements
Apraxia- inability to plan muscle movements
Abnormalities in the mouth and tongue
Expressive language delays
Stronger receptive language

Question 18

what are some learning considerations?

Answer 18

Stronger receptive than expressive language
Stronger visual than auditory memory
Friendly, but some lacks in social skills

Question 19

what are some behavior concerns?

Answer 19

Friendly and outgoing
Stubborn
Challenging behaviour

Question 20

what are some interventions?

Answer 20

Speech and language therapy
Physiotherapy
Occupational therapy
Training in adaptive skill development