Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

Paediatrics for Finals > Genetics and Behaviour > Flashcards

Genetics and Behaviour Flashcards

1
Q

Describe the genetics of Down syndrome

A

Trisomy 21

Maternally derived from non-disjunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

How can Down syndrome be diagnosed antenatally?

A

Thickened nuchal translucency
High serum bHCG
Low PAPP-A
Low unconjugated oestriol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the features of Down syndrome? (appearance and organ dysfunction)

A
  • down slanting palpebral fissures
  • epicanthic folds
  • low set ears
  • protruding tongue (not big)
  • single palmar crease
  • incurving little finger
  • sandal gap deformity
  • VSD, ASD, TOF, PDA
  • duodenal atresia
  • Hirschsprung
  • respiratory infections
  • thyroid dysfunction
  • atlanto-axial instability
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What tests need to be done on a neonate with Down syndrome?

A 
Red reflex (high risk cataract)
Hearing
TFTs
Ensure feeding ok (hypotonia and duodenal atresia) 
Echo
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the genetics of Turner syndrome?

A

45X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What features in a newborn may point towards Turner syndrome?

A

Lymphoedema of hands and feet

Excessive skin at nape of neck

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What are the features of Turner syndrome? (appearance and organ dysfunction)

A 
SHORT + AMMENORRHOEA 
\+ webbed neck
\+ wide spaced nipples
\+ down slanting palpebral fissure
\+ low set ears

Coarctation of the aorta and bicuspid aortic valve

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What pharmacological therapy is given in Turner syndrome?

A

Growth hormone given before fusion of epiphyseal plates

Oestrogen therapy given in adolescence

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the inheritance pattern of DMD?

A

X-linked recessive = only males

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What investigations can aid a DMD diagnosis?

A

Creatinine kinase will be raised
Muscle biopsy
Genetic testing
Electromyography shows low frequency and amplitude

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What are the signs and symptoms of DMD?

A
  • Delayed gross motor development
  • Pseudohypertrophy of the calf and tongue
  • Gowers sign (walks hands up legs to stand)
  • Waddling or tiptoe gait
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Which muscles are affected first by DMD?

A

Proximal limb then distal limb then cardio-respiratory

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

How does DMD affect the respiratory, cardiac and GI systems?

A

Respiratory:

  • hypoventilation in sleep
  • inability to cough/ clear infections

Cardiac:
- cardiomyopathy

GI:
- pseudo obstruction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

How is DMD managed?

A

Prednisolone can prolong ambulation for 2 years

  • walking aids
  • orthotics
  • wheelchair
  • Chest physio and tracheostomy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What does the term “manifesting carriers” describe?

A

Females that are carriers of an X-linked disorder may get mild symptoms due to inactivation of their other X

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is achondroplasia?

A

AD inherited condition leading to abnormal cartilage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Describe the appearance of someone with achonodroplasia

A
  • Short limbs
  • Macrocephaly
  • Lumbar lordosis
  • Large gap between middle and ring finger
18
Q

What are the genetics of Klinefelter syndrome?

How is it treated?

A

47XXY

Testosterone injections

19
Q

What are the features of Klinefelter syndrome?

A

At puberty:

  • wide hips
  • gynaecomastia
  • small testis
  • weaker muscles
20
Q

What are the genetics of William syndrome?

A

Deleted genetic material on chromosome 7

21
Q

What are the characteristics of William syndrome?

A
  • friendly, trusting personality
  • star shaped pattern on iris
  • small chin
  • wide mouth and spaced teeth

!! SUPRAVALVULAR AORTIC STENOSIS!!
!! HYPERCALCAEMIA!!

22
Q

What are the genetics of Prader-Willi syndrome?

A

Loss of genetic material on the proximal arm of chromosome 15

23
Q

What are the characteristics of Prader-Willi syndrome?

How is it managed?

A
  • constant insatiable hunger = obesity
  • hypotonia
  • hypogonadism

Growth hormone to help with the muscle development

24
Q

What is the inheritance pattern and features of Fragile-X?

A

X-linked

  • delayed speech and language
  • long face
  • large ears
  • large testis
25
What are the features of Noonan syndrome?
- short - webbed neck - wide spaced eyes and nipple !!PULMONARY STENOSIS!!
26
What are the genetics and characteristics of Patau syndrome?
Trisomy 13 - small head and eyes - cleft lip/palate - polydactyly
27
What are the genetics and characteristics of Edward syndrome?
Trisomy 18 - low ears - small chin - rocker bottom feet - overlapping fingers
28
What are the 3 core features of autism? Describe some classic features within these
Repetitive stereotyped behaviours - fixation on an interest - rocking and twisting - unable to cope with change in routine Problems with social interaction - avoid eye contact - unaware of social rules - no emotional expression Problems with communication - echolalia - delayed speech
29
What are some differentials for autism?
ADHD OCD Conduct disorder Learning disability
30
What conditions can autism be associated with?
``` Epilepsy Hearing and vision problems ADHD, depression and anxiety Pica Constipation ```
31
How is autism managed?
Early Start Denver Model of behavioural therapy Special schooling SSRIs for repetitive stereotypes behaviour Modified environment (lights and noise) Family psychoeducation
32
How is Aspreger's different from autism?
No impairment to language | IQ is average or above
33
Define the diagnostic criteria for ADHD
``` Inattentive/ hyperactive behaviours + Persistent in more than 1 setting + Behaviours considered more severe than comparable individuals ```
34
State some ADHD behaviours
Inattentive: - Doesn't finish tasks - Poor concentration - Poor organisation - Forget things Hyperactive: - Speak over other people - Fidgets - Doesn't wait their turn - Temper tantrums and aggression
35
How is ADHD managed pharmacologically?
Methylphenidate
36
Methylphenidate: a) baseline investigation b) Monitoring c) ADRs
a) ECG b) height and weight, BP, HR, appetite c) insomnia, HTN, reduced appetite, anxiety
37
Define a learning disability
Development of the mind arrests meaning things normally learned in the developmental period are not. This leads to impairment of skills and overall intelligence
38
Describe mild, moderate, severe and profound learning disabilities
Mild: academic difficulties but adequate language and social skills Moderate: Communicates with limited language Severe: Very simple communication with some motor impairment too Profound: Severe motor and communication difficulties meaning they need help with self care
39
What are some causes of learning disabilities?
``` Hypoxia Meningitis Teratogenic drugs Autism Cerebral palsy Fragile X Prader-Wili ```
40
What is conduct disorder? State some behaviours seen in children with conduct disorder
A severe pattern of anti-social behaviour - Aggression - Run away and skip school - Damage property - Steal

Paediatrics for Finals (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions