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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

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2
Q

How can Down syndrome be diagnosed antenatally?

A

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

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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
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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
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5
Q

What are the genetics of Turner syndrome?

A

45X

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6
Q

What features in a newborn may point towards Turner syndrome?

A

Lymphoedema of hands and feet

Excessive skin at nape of neck

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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

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8
Q

What pharmacological therapy is given in Turner syndrome?

A

Growth hormone given before fusion of epiphyseal plates

Oestrogen therapy given in adolescence

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9
Q

What is the inheritance pattern of DMD?

A

X-linked recessive = only males

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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

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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
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12
Q

Which muscles are affected first by DMD?

A

Proximal limb then distal limb then cardio-respiratory

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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

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14
Q

How is DMD managed?

A

Prednisolone can prolong ambulation for 2 years

  • walking aids
  • orthotics
  • wheelchair
  • Chest physio and tracheostomy
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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

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16
Q

What is achondroplasia?

A

AD inherited condition leading to abnormal cartilage

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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
Q

What are the features of Noonan syndrome?

A
  • short
  • webbed neck
  • wide spaced eyes and nipple

!!PULMONARY STENOSIS!!

26
Q

What are the genetics and characteristics of Patau syndrome?

A

Trisomy 13

  • small head and eyes
  • cleft lip/palate
  • polydactyly
27
Q

What are the genetics and characteristics of Edward syndrome?

A

Trisomy 18

  • low ears
  • small chin
  • rocker bottom feet
  • overlapping fingers
28
Q

What are the 3 core features of autism? Describe some classic features within these

A

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
Q

What are some differentials for autism?

A

ADHD
OCD
Conduct disorder
Learning disability

30
Q

What conditions can autism be associated with?

A 
Epilepsy 
Hearing and vision problems 
ADHD, depression and anxiety 
Pica 
Constipation
31
Q

How is autism managed?

A

Early Start Denver Model of behavioural therapy
Special schooling
SSRIs for repetitive stereotypes behaviour
Modified environment (lights and noise)
Family psychoeducation

32
Q

How is Aspreger’s different from autism?

A

No impairment to language

IQ is average or above

33
Q

Define the diagnostic criteria for ADHD

A 
Inattentive/ hyperactive behaviours 
\+ 
Persistent in more than 1 setting 
\+
Behaviours considered more severe than comparable individuals
34
Q

State some ADHD behaviours

A

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
Q

How is ADHD managed pharmacologically?

A

Methylphenidate

36
Q

Methylphenidate:

a) baseline investigation
b) Monitoring
c) ADRs

A

a) ECG
b) height and weight, BP, HR, appetite
c) insomnia, HTN, reduced appetite, anxiety

37
Q

Define a learning disability

A

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
Q

Describe mild, moderate, severe and profound learning disabilities

A

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
Q

What are some causes of learning disabilities?

A 
Hypoxia
Meningitis
Teratogenic drugs 
Autism 
Cerebral palsy
Fragile X
Prader-Wili
40
Q

What is conduct disorder? State some behaviours seen in children with conduct disorder

A

A severe pattern of anti-social behaviour

  • Aggression
  • Run away and skip school
  • Damage property
  • Steal

Paediatrics for Finals (11 decks)

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