PBL 6: Developmental Delay and Disability

Question 1

What is Down syndrome?

Answer 1

A genetic disorder due to a partial or full 3rd copy of chromosome 21.

Question 2

Define portage staff

Answer 2

Portage is a home visiting educational service for children aged 2-4 with additional support needs and their families.

Question 3

What are glue ears?

Answer 3

Otitis media with effusion; middle ear becomes filled with fluid.

Question 4

What is a non-disjunction trisomy?

Answer 4

• In non-disjunction meiosis, a gamete is formed with an extra copy of chromosome 21, giving it 24 chromosomes over all.
• There is failure of the sister chromatids to separate properly during cell division.
• When combined with a typical gamete from the other parent, the foetus will have 47 chromosomes.

Question 5

What will it present as? (non-disjunction trisomy)

Answer 5

47XY+21

Question 6

Does meiotic dysjunction typically occur in mother or father?

Answer 6

Mother

Question 7

What happens if mitotic non junction occurs?

Answer 7

Mosaic pattern as some cells will have trisomy 21 and some not

Question 8

What is the type of translation called that can cause down syndrome?

Answer 8

Robertsonian

Question 9

What is robertsonian translocation?

Answer 9

long arm (q) of chromosome 21 attaches to the long arm of chromosome 14.
Happens on acromatic chromosomes (which there are 5)

Question 10

What is the karyotype of a male with down syndrome?

Answer 10

46XYt(14;21)

Question 11

Where does translational Down syndrome occur usually?

Answer 11

Mother who have a balanced translocation

Question 12

Genetic chance for down syndrome for a translocation carrier having a child?

Answer 12

1/3

Question 13

S+S of down syndrome?

Answer 13

•	Physical abnormalities:
-	Slanted eyes.
-	Muscle tone.
-	Large tongue.
-	Short stature.
•	Mental impairment.
•	Irregular and slurred speech.
•	Epileptic seizures.

Question 14

What do you see in an ultrasound?

Answer 14

nuchal translucency detects the fluid collection in the neck

Question 15

What do you look for in blood when screening?

Answer 15

raised pregnancy associated plasma protein A (PAPP-A) and Alpha-fetoprotein levels.

Question 16

How to diagnose down syndrome specifically?

Answer 16

• Chorionic villous sampling is a prenatal test used to determine genetic disorders in the foetus.
• Amniocentesis

Question 17

What congenital heart defects?

Answer 17

• 60% babies with DS are born with congenital heart defects.
• AV septal defect is most common.
• Atrial septal defect.
• Ventricular septal defect.
• Tetralogy of Fallot.
• Transposition of great arteries.

Question 18

What complications can you get with the GI tract?

Answer 18

• Bowel atresia; most commonly in the duodenum.
• GORD.
• Hirschsprung’s disease (colonic dilation).
• Coeliac disease.

Question 19

What complications can you get with endocrine?

Answer 19

• Hypothyroidism.
• T1DM.
• Obesity.
• Short stature.

Question 20

What complications can you get with eyes?

Answer 20

• Neonatal cataracts.
• Nystagmus.
• Refractive errors.

Question 21

What complications can you get with bones?

Answer 21

• Atlanto-occipital (Atlasoccipital bone) instability.

Question 22

How can alzheimers disease be affected by down syndrome?

Answer 22

• 50% DS have dementia >50 years old.
• APP gene is also found on chromosome 21, so is linked to Down syndrome.
• All DS patients >35 have Beta plaques and neurofibrillary tangles.

Question 23

How is cancer affected by down syndrome?

Answer 23

• Increased risk of acute lymphoblastic leukaemia.
• Testicular cancer.
• Tumour suppressor genes are thought to be found on chromosome 21.

Question 24

How is choronic secretory otitis media affected by down syndrome?

Answer 24

• Due to persistence of sticky mucous in the middle ear.
• Causes deafness.
• Management is usually waiting and watching.
• Hearing aids may be fitted.

Question 25

What are the four main categories for assessing milestones?

Answer 25

• Fie motor.
• Gross motor.
• Social/cognitive skills.
• Speech and language.

Question 26

When should a infant be able to say a 2-3 word sentence?

Answer 26

2 yrs old

Question 27

What does nicholas have?

Answer 27

Global development delay and hearing loss

Question 28

What shows that there is an issue with speech delay?

Answer 28

Gesturing with his hands

Question 29

Who is in an MDT meeting?

Answer 29

• Paediatrician.
• Physiotherapist.
• OT.
• Speech and language therapist.
• Social worker.
• Child psychiatrist.
• Dietician.

Question 30

Roles of an MDT?

Answer 30

• Providing information to parents such as DS services.
• Developmental assessment using milestones.
• Providing non-medical therapy; physio, OT, speech and language. (sign language).
• Medical assessment and treatment.
• Advice on social support such as disability living allowance.

Question 31

What other support do parents have?

Answer 31

• The Down Syndrome Association (DSA) is a useful resource to parents.
• Counselling is useful for parents who need to come to terms with a disabled child.