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Child Health > Genetic Conditions > Flashcards

Genetic Conditions Flashcards

1
Q

Down syndrome

A

Trisomy 21

Dysmorphic features and mild-to-severe cognitive impairment

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2
Q

Combined test for Down’s syndrome

A

11-14 weeks gestation
USS: Nuchal thickness over 6mm
Beta-HCG: high result
Pregnancy-associated plasma protein: lower result

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3
Q

Triple test Down’s syndrome

A

14-20weeks gestation
Beta-HCG: higher result indicates a greater risk
AFP: lower result indicates a greater risk
Serum oestriol: lower result indicates a greater risk

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4
Q

Quadruple test for Down’s syndrome

A

Beta-HCG: higher
AFP: lower
Serum oestriol: lower
Inhibin-A: higher

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5
Q

Antenatal screening for Down’s syndrome

A

Combined test
Triple test
Quadruple tests

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6
Q

Antenatal testing for Down’s syndrome

A

If risk score from screening is greater than 1 in 150
Amniocentesis if >15weeks
Chorionic villus sampling if <13weeks

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7
Q

Dysmorphic features of Down syndrome

A 
Hypotonia (reduced muscle tone)
Brachycephaly (small head with flat back)
Short neck 
Short stature
Flattened face and nose
Prominent epicanthic folds
Upwards sloping palpable fissures
Single palmar crease 
Small mouth, with relative macroglossia
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8
Q

Complications of Down syndrome

A

Visual problems: congenital cataract, infantile glaucoma, strabismus and nystagmus
Hearing difficulties- predominantly conductive hearing loss
ENT: OSA, increased risk of infections
Cardiac abnormalities: AVSD
GI: oesophageal atresia, tracheo-oesophageal fistula, duodenal atresia, imperforate anus, Hirschprung’s
MSK: hypotonia, risk of Atlanto-axial dislocation,
Growth and development: poor growth and short status are common
Endocrine: hypothyroidism
Haematological: transient myeloproliferative disorder, acute myeloid leukaemia

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9
Q

OSA complications

A 
Day-time
Somnolence
Obesity
HTN
Eventual risk or cor pulmonale
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10
Q

Differential diagnosis of Down’s syndrome

A

Trisomy 13, Patau
Trisomy 18, Edwards
Trisomy 21 Down

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11
Q

Early management of Down’s syndrome

A

Senior paediatrician and midwife to attend to the family
Tell it Right, Start it right
Early counselling
Blood tests: QF-PCR, followed by G-banded analysis to identify trisomy 21, FBC and blood film (DSA neonatal)
Newborn eye assessment
Universal newborn hearing screen
Guthrie test- new born blood spot on day 5 to screen for congenital hypothyroidism
ECG and ECHO

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12
Q

Down syndrome checks birth-6 weeks

A

TFTs: newborn routine heel prick- blood spot test
Eye checks: congenital cardiac check
Hearing checks: universal newborn hearing screen
Growth monitoring: length, weight and head circumference
Heart checks, ECHO
Breathing checks: enquire at every review for uneven breathing during sleep and poor quality intake, low threshold for further testing using sleep studies
Blood checks: newborn blood test to check for abnormal blood film

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13
Q

Down syndrome special checks under 2 years

A

Annual fingerprick TSH test
2 yearly thyroid blood tests, including thyroid antibodies
Eye and vision exam: check for squint, refraction for long or short sight
Visual behavior to be monitored every year
Full audiologial review by 10 months including hearing test and impedance check
Length, weight and head circumference
Heart checks
B reaching checks
Blood checks until age of 5

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14
Q

Complications of Down’s syndrome

A

Life expectancy reduced to 60 years

Increased incidence of Alzheimer’s dementia

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15
Q

Non-invasive prenatal testing

A

Tests mother’s blood for fragments of DNA

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16
Q

Routine follow-up investigations for children with Down’s syndrome

A

Regular thyroid checks
Echocardiogram to diagnose cardiac defects
Regular audiometry for hearing impairment
Regular eye checks

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17
Q

Causes of cerebral palsy

A

Antenatal: maternal infections, trauma during pregnancy
Perinatal: birth asphyxia, pre-term birth
Postnatal: meningitis, severe neonatal jaundice, head injury

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18
Q

Types of cerebral palsy

A

Spastic
Dyskinetic
Ataxic
Mixed

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19
Q

Spastic cerebral palsy

A

Hypertonia
Pyramidal CP
Reduced function resulting from damage to UMN

20
Q

Dyskinetic cerebral palsy

A

Problems controlling muscle tone
Hypertonia and hypotonia
Causing athetoid (slow) movements an oro-motor problems
This is a result of damage to the basal ganglia
Athetoid CP and extrapyramidal CP

21
Q

Ataxic cerebral palsy

A

Problems with uncoordinated movement resulting from damage to the cerebellum
Shaky movements
Affects balance nad sense of position in space

22
Q

Patterns of spastic cerebral palsy

A

Monoplegia: one limb affected
Hemiplegia: one side of the body affected
Diplegia: four limbs are affected, but mostly the legs
Quadriplegia: four limbs are affected more severely, often with seizures, speech disturbance and other impairments

23
Q

Which children are at risk of developing cerebral palsy?

A

Those with hypoxic-ischaemic encephalopathy

24
Q

Signs and symptoms of cerebral palsy

A

Failure to meet milestones
Increased or decreased tone, generally or in specific limbs
Hand preferences below 18months
Problems with coordination, speech or walking
Feeding or swallowing problems
Learning difficulties

25
Q 
Hemiplegic/ diplegic gait:
Broad based gait/ ataxic gait:
High stepping gait:
Waddling gait:
Antalgic gait
A

Hemiplegic/ diplegic gait: indicates UMN
Broad based gait/ ataxic gait: indicates cerebellar lesion
High stepping gait: indicates foot drop or a LMN
Waddling gait: indicates pelvic muscle weakness due to myopathy
Antalgic gait: limp, indicates localised pain

26
Q

Cerebral palsy gait

A

Hemiplegic or diplegic gait
Leg extended and plantar flexed
Circumduction
Good muscle bulk, increased tone, brisk reflexes, slightly reduced power
Athetoid movements: extrapyramidal involvement
Test for coordination to look for cerebellar involvement

27
Q

Complications and associated conditions in cerebral palsy

A 
Learning disability
Epilepsy
Kyphoscoliosis 
Muscle contracture
Hearing and visual impairment
GORD
28
Q

Physiotherapy role in cerebral palsy

A

Physiotherapy: stretch and strengthen muscles, maximise function and reduce contracture

29
Q

Occupational therapy role in cerebral palsy

A

Help patients manage everyday activities
Techniques to perform tasks despite disability
Can make adaptations and supply equipment

30
Q

Speech and language therapy role in cerebral palsy

A

Can help with speech and swallowing

May require an NG tube or PEG tube to be fitted

31
Q

Orthopaedic surgeons role in cerebral palsy

A

Can perform procedures to release contracture or lengthen tendons
Tenotomy

32
Q

Medications to treat cerebral palsy

A

Muscle relaxants, e.g. bac Loren for muscle spasticity and contractures
Anti-epileptic drugs for seizures
Glycopyrronium bromide for excessive drooling

33
Q

Aetiology of cerebral palsy

A 
TORCH infections and cerebral malformation
Dysgenesis
Periventricular leucomalacia
Intraventricular haemorrhage
HIE
Post-natal: infections, toxin, trauma
34
Q

Batten’ disease

A

NCL

Abnormal waste material in cells

35
Q

Retts syndrome

A

Normal until 6 months

36
Q

Commando crawl

A

Is a variant of normal

However, if never do 4 point crawling could indicate low core or poor shoulder stability

37
Q

Tip-toe walk

A

Normal- review FH
Sensory issues (increased likelihood in child with ASD)
Tight TA due to position of child (kept in seat)
DMD
Cerebral palsy, especially if unilateral

38
Q

Cerebral palsy

A

Persistent disorder of movement and posture caused by non progressive defects or lesions of the immature brain

39
Q

Cerebral ischaemia
<20th week
26-34th week
34-40th week

A

<20th week neuronal migration deficit
26-34th week periventricular leukomalacia
34-40th week focal or multifocal cerebral injury

40
Q

Diplegia

A

Both legs affected

Arms may be affected but to lesser extent

41
Q

Quadriplegia

A

Both arms and legs affected

Trunk, face and mouth often affected

42
Q

Hemiplegia

A

One side of the body affected

43
Q

Obesity

A

Seen in muscular dystrophy
Spina bifida
Prader William
Puberty, menstruated, sexuality

44
Q

DMD and wetting

A

History: input, bowels, urine frequent, urgency, wetting
Examination: constipation
Bladder USS

45
Q

Prader-Willi syndrome

A 
Hypotonia during infancy
Dysmorphic features
Short stature
Hypogonadism and infertility
Learning difficulties
Childhood obesity
Behavioural problems in adolescence

Child Health (20 decks)

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