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Human Development > PBL 6: Developmental Delay and Disability > Flashcards

PBL 6: Developmental Delay and Disability Flashcards

1
Q

What is Down syndrome?

A

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

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2
Q

Define portage staff

A

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

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3
Q

What are glue ears?

A

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

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4
Q

What is a non-disjunction trisomy?

A
  • 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.
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5
Q

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

A

47XY+21

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6
Q

Does meiotic dysjunction typically occur in mother or father?

A

Mother

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7
Q

What happens if mitotic non junction occurs?

A

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

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8
Q

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

A

Robertsonian

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9
Q

What is robertsonian translocation?

A 
long arm (q) of chromosome 21 attaches to the long arm of chromosome 14.
Happens on acromatic chromosomes (which there are 5)
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10
Q

What is the karyotype of a male with down syndrome?

A

46XYt(14;21)

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11
Q

Where does translational Down syndrome occur usually?

A

Mother who have a balanced translocation

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12
Q

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

A

1/3

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13
Q

S+S of down syndrome?

A 
•	Physical abnormalities:
-	Slanted eyes.
-	Muscle tone.
-	Large tongue.
-	Short stature.
•	Mental impairment.
•	Irregular and slurred speech.
•	Epileptic seizures.
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14
Q

What do you see in an ultrasound?

A

nuchal translucency detects the fluid collection in the neck

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15
Q

What do you look for in blood when screening?

A

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

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16
Q

How to diagnose down syndrome specifically?

A
  • Chorionic villous sampling is a prenatal test used to determine genetic disorders in the foetus.
  • Amniocentesis
17
Q

What congenital heart defects?

A
  • 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.
18
Q

What complications can you get with the GI tract?

A
  • Bowel atresia; most commonly in the duodenum.
  • GORD.
  • Hirschsprung’s disease (colonic dilation).
  • Coeliac disease.
19
Q

What complications can you get with endocrine?

A
  • Hypothyroidism.
  • T1DM.
  • Obesity.
  • Short stature.
20
Q

What complications can you get with eyes?

A
  • Neonatal cataracts.
  • Nystagmus.
  • Refractive errors.
21
Q

What complications can you get with bones?

A

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

22
Q

How can alzheimers disease be affected by down syndrome?

A
  • 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.
23
Q

How is cancer affected by down syndrome?

A
  • Increased risk of acute lymphoblastic leukaemia.
  • Testicular cancer.
  • Tumour suppressor genes are thought to be found on chromosome 21.
24
Q

How is choronic secretory otitis media affected by down syndrome?

A
  • Due to persistence of sticky mucous in the middle ear.
  • Causes deafness.
  • Management is usually waiting and watching.
  • Hearing aids may be fitted.
25
Q

What are the four main categories for assessing milestones?

A
  • Fie motor.
  • Gross motor.
  • Social/cognitive skills.
  • Speech and language.
26
Q

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

A

2 yrs old

27
Q

What does nicholas have?

A

Global development delay and hearing loss

28
Q

What shows that there is an issue with speech delay?

A

Gesturing with his hands

29
Q

Who is in an MDT meeting?

A
  • Paediatrician.
  • Physiotherapist.
  • OT.
  • Speech and language therapist.
  • Social worker.
  • Child psychiatrist.
  • Dietician.
30
Q

Roles of an MDT?

A
  • 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.
31
Q

What other support do parents have?

A
  • 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.

Human Development (8 decks)

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