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Year 4 Paeds Conditions > Nutrition and Genetics > Flashcards

Nutrition and Genetics Flashcards

1
Q

what are the 2 most commonly seen conditions in malnutrition

A

o Kwashiorkor  severe deficiency of proteins/essential amino acids
o Marasmus  severe energy (calorie) deficiency

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2
Q

aetiology of malnutrition

A
  • diet dec in protein, energy or specific nutrients
  • strict vegetarian diets
  • disease causing malabsorption  coeliac disease, CF, IBD, severe GORD, immunodeficiency, chronic infection
  • eating disorder  anorexia nervosa
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3
Q

clinical features of malnutrition

A
  • Kwashiorkor – growth retardation, diarrhoea, apathy, anorexia, oedema, skin/hair depigmentation, abdo distension + fatty liver
  • Marasmus – height preserved compared to weight, wasting, muscle atrophy, lethargy, diarrhoea + constipation
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4
Q

Ix for malnutrition

A

• diet assessment – parents are asked to record the food the children eat
• Anthropometry – skinfold thickness of triceps/mid-upper arm circumference  reflect subcutaneous fat stores and skeletal muscle mass respectively
• History
• refer to paediatric dietician for nutritional status
o upper mid-arm circumference < 115mm = severe malnutrition
o recent weight loss > 10% over 3 m = impaired nutritional status
o weight for height  > -3 standard deviations below median on growth chart = severe malnutrition
o BMI
o serum albumin, FBC, U&Es, BM
• Kwashiorkor  hypoalbuminemia, normo- and microcytic anaemia, dec Ca/Mg/Phos/glucose
• Marasmus  hypoalbuminaemia, dec Hb, dec U&es, dec Ca/Mg/Phso/glucose, stool MC+S for intestinal oca, cysts + parasites

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5
Q

mx for malnutrition

A
  • correct Dehydration and electrolyte imbalance (IV if need)
  • treat underlying infection, concurrent/causative disease
  • treat nutritional deficiency  can be done either enterally or parenterally
  • orally re-feed slowly  refeeding syndrome (metabolic disturbances)
  • if not treated – morbidity and death
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6
Q

what is rickets

A
  • Signifies a failure in mineralisation of the growing bone or osteoid tissues
  • failure of mature bone to mineralise = osteomalacia
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7
Q

aetiology of rickets

A
  • Malnutrition and dec Ca

* vit D deficiency – rare in developed countries

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8
Q

clinical features of rickets

A

• ping-pong ball sensation of the skull  craniotabes
o press firmly Over the occipital or posterior parietal bones
• growth delay/arrest
• bone pain + fracture
• muscle weakness
• skeletal deformities  bowing of long bones, swelling of costochondral junctions (bone-cartilage junction ricket rosary), frontal cranial bossing
• hypocalcaemia seizures

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9
Q

investigation for rickets

A
  • X-ray of long bones (mostly wrist) – widening of the epiphyseal plate
  • serum calcium – maybe dec/inc
  • serum inorganic phosphorus – maybe dec/inc
  • serum parathyroid hormone level – can be high / low depending on hypocalcaemia or hypophosphatemia rickets
  • 25-hydroxyvitamine D levels (calcidiol) – low
  • ALP + LFT – elevated
  • serum creatine and urea – elevated
  • urinary calcium and phosphorus
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10
Q

mx of rickets

A
  • if systemic  admission

* calcium and vitamine D supplement  calcium + ergocalciferol/colecalciferol

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11
Q

what is the genetic makeup of Klinfelter’s syndrome

A

extra X materials

47 XXY, 48 XXYY, 46 XY polysomy or mosaic

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12
Q

clinical features of Klinfelter’s syndrome

A

tall - 6 feet

small testes, hypogonadism, narrow shoulder, wide hips, subfertility

unable to produce sperm

thin and spaced body and facial hair

gynaecomastia

delayed speech and learning difficulties

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13
Q

investigation for Klinfelter’s syndrome

A
  • genetic testing/chromosomal analysis/karotyping  XXY males maybe diagnosed before birth  amniocentesis or CVS
  • serum testosterone  low or low normal
  • FSH and LH  elevated (FSH > LH)
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14
Q

management of Klinefelter’s syndrome

A
  • MDT follow up for any long-term problems  aim to reduce risk of long term problems
  • regular schedule of testosterone  inc strength and muscle size and promote growth of facial and body hair & improve psychological health
  • fertility treatment  intra-cytoplasmic injection of sperm
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15
Q

what is the genetic make up of Tuner’s Syndrome

A

• complete or partial absence of 2nd sex chromosome in female  mostly sporadic

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16
Q

clinical features of Turner’s syndrome

A 
low setting ears 
hooded eyes 
delayed/absent pubertal development 
webbed neck 
upper limb hypertension
wide carrying angle > 30 degree 
aorta coarctation and bicuspid aortic valve --> systolic murmur + click sound 
scoliosis 
primary amenorrhea 
•	peripheral lymphadenopathy 
•	multiple melanocytic naevi 
•	recurrent/severe otitis media
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17
Q

investigation for Turner’s syndrome

A
  • karyotype
  • audiology testing
  • ECG
  • bone age
  • cardiac MRI  aorta coarctation and bicuspid aortic valves
  • FSH and anti-Mullerian hormone  FSH high and AMH low (reduced AMH predicts complete ovarian failure)
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18
Q

management for Turner’s syndrome

A
  • poor growth  growth hormone (somatropin) +/- oxandrolone (oral androgen, only use as adjunct and for short period of time)
  • low dose oestrogen  to induce pubertal development
  • cyclic progesterone  to induce menstruation
  • after fully established oestrogen and progesterone doses  ovarian HRT to ensure good bone health
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19
Q

what is cerebral palsy?

A

• An umbrella term referring to a non-progressive disease of the brain originating during the antenatal, neonatal, or post-natal period when brain neural connections are still evolving

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20
Q

what are the 3 brain areas that are affected in Cerebral palsy

A

Cortex - spastic & voluntary

Basal Ganglia - dyskinesia & involuntary

cerebellum - ataxic

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21
Q

what are some antenatal causes of CP

A

o Prematurity, multiple birth, maternal illness (thyroid disease), iodine deficiency, TORCH syndrome, thrombotic disorder eg Factor V Leiden mutations, teratogen exposure,

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22
Q

what are some prenatal causes of CP

A

o birth asphyxia, Instrumental delivery, birth trauma, placenta abruption, rupture of the uterus, prolonged/obstructed Labour and post maturity

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23
Q

what are some post-natal causes of CP

A

o Hyperbilirubinemia, nearly to sepsis, respiratory distress, early on to meningitis, intraventricular haemorrhage and head injury prior to 3 years (incl shaken baby syndrome)

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24
Q

what are the different subtypes of spastic CP

A

i. monoplegia  single limb involvement
ii. hemiplegia  ipsilateral upper and lower extremity
iii. diplegia  both lower limbs
iv. Quadriplegia  all 4 limbs + neck, phonation and swallowing problems

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25
Q

what are the different subtypes of dyskinetic CP

A

i. Dystonia involuntary, sustained contraction resulting and twisting an abnormal posture
ii. Chorea  rapid, involuntary, jerky and fragmented motions, dec tone but can fluctuate
iii. Athetosis  slower, constant changing, writhing or contorting movement

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26
Q

what are some neonatal clinical presetnation of CP

A

poor feeding, convulsions, prolonged primitive reflex, hypotonia

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27
Q

what are some early childhood clinical presetnation of CP

A

tone abnor (initially reduced, spasticity later), delayed motor development, delayed speech development, delay in cognitive development

movement disorder

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28
Q

what are some clinical features of quadriplegic spastic CP

A

all 4 limbs + • Seizures, microcephaly, mod/severe intellectual impairment
o Swallowing problems, GORD  aspiration pneumonia
o Speech, visual problems

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29
Q

what are some clinical features of ataxic CP

A

problems with gait and trunk ataxia, poor balance, past pointing, terminal intention tremor, scanning speech, nystagmus, abnor eye movement and hypotonia

30
Q

what are some clinical features of dyskinetic CP

A

 Dystonia involuntary, sustained contraction resulting and twisting an abnormal posture
 Chorea  rapid, involuntary, jerky and fragmented motions, dec tone but can fluctuate
 Athetosis  slower, constant changing, writhing or contorting movement

31
Q

what is the single most important test to do for CP

A

brain MRI –> periventricular leukomalacia

32
Q

which score to use to assess the severity of CP

A

Gross Motor Function Classification System

33
Q

Mx for CP?

A

MDT approach to aid speech, swallowing problems, walking problems and to provide equipment

o Anticonvulsants for epilepsy
o Spasticity: baclofen for spasm, Botox to reduce spasm
o Dsykineasia – carbidopa/levodopa, Botox to reduce spasm
o All – clonazepam to help with sleep
o Nutrition: Energy-rich supplements, reflux Rx. ?gastrostomy

34
Q

what is the genetic make-up for Down’s Syndrome

A

• Trisomy 21 (47, XX/XY, +21)

35
Q

aetiology and RF for Down’s syndrome

A

trisomy 21 - error in meiosis

inc maternal age
previous sibling who has Down’s Syndrome

36
Q

Clinical Features of Down’s Syndrome

A

ROSEOLA

Round face 
Occiputal + nosal brdige
Squint + sprinked spot in iris (Brushfield's spot)
Epicanthic fold 
Open mouth + protruding tongue 
Low setting ears 
Alomand (oval) upward slanting eyes

other findings
- short fingers, single palmar crease, large sandal gap
o congenital heart defect (AVSD most common)
o congenital GI malformation (duodenal atresia  double bubble X-ray)
o motor & cognitive delay development (learning disability, autisms spectrum disorder)
o early onset dementia
o secretory Otitis media (Squint)
o hypothyroidism
o atlantoaxial instability
o leukaemia more common

37
Q

investigation for Down’s Snydrome

A

• chromosomal karyotype
• Echocardiogram  to detect any congenital heart defect  AVSD
• AXR  duodenal atresia
• hearing test  secretory OM  mild to profound hearing loss
• TFT – hypothyroidism
• FBC – haemoglobin
• Antenatal screening
o combined test @ 10-14 weeks for nuchal translucency + blood test
o 15-20 wks for quadruple test
o confirmation  amniocentesis, CVS
• developmental evaluation  global delayed development

38
Q

management of Down’s Syndrome

A
  • Routine cardiac evaluation at birth.
  • Routine audiological and thyroid tests in childhood, ophthalmological assessment if squint.
  • Growth plotted on special Down’s growth charts.
  • Family requires genetic counselling
  • MDT approach – parental education, support, genetic counselling, IQ test
  • Support to stay in mainstream school
  • Medical  Abx (recurrent resp infections), thyroxine (hypothyroidism)
  • Surgical  congenital heart defects, oesophageal/duodenal atresia
  • Children and adults needs regular reviews  feeding, bowel/bladder function, behavior, vision, hearing etc
39
Q

what is strabismus

A

• misalignment of the eyes

40
Q

what are the different types of strabismus

A

the direction of deviation - horizontal, vertical, torisonal

frequency of deviation - latent, intermittent, constant

variation with positiion of gaze - comitant, incomitant

41
Q

clinical features of starbismus

A
  • diplopia – binocular
  • eye misalignment – can be manifest
  • amblyopia (lazy eye) – where one eye fails to achieve full vision acuity if strabismus is not corrected in time
  • visual confusion – phenomenon where images of 2 different objects are seen superimposed
  • asthenopia – eye strain or headache
42
Q

investigaton of strabismus

A
  • cover test  +ve
  • Hirschberg test light symmetrically centred at each eye, no manifest strabismus
  • Krimsky test  follow the Hirschberg test to measure the angel of misalignment
43
Q

mx for strabismus

A
  • correct any refractive errors  with glasses
  • if amblyopia +/- diplopia  occlusion of the good eye with a patch
  • extraocular muscle surgery
  • Botox can be used instead
  • secondary  treat underlying and follow the above management
44
Q

what is an autism spectrum disease

A

Symptoms relate to impairment in social interaction, communication, and restricted interests, and repetitive behavior.

45
Q

what is the diagnostic criteria for autism spectrum disease

A

DSM 4 and ICD -10

onset before age of 3

1) communication deficit
2) social interaction
3) restricted, repetitive behaviors + interests

46
Q

clinical features of an autism spectrum disease

A
  • Failure to develop social relationships.
  • Very little communication, verbal and non-verbal, eye contact is avoided.
  • Ritualistic, repetitive + obsessional behavior.

special characteristics of speech include:
o Pronoun reversal e.g. refers to self as ‘you’.
o Echolalia.
o Neologisms.

• Restricted & repetitive interests and behaviours
• Love of routines
• Sensory sensitivity
learning disabilities

47
Q

investigation for ASD

A
  • parental questionnaire + Hx
  • Childhood autism Rating Scale (CARS)
  • Childhood Autism Screening Test (CAST)
  • fragile X and chromosome/microarray testing  may show abnormality
  • EEG  to exclude other diagnosis
48
Q

mx for ASD

A

• Children at severe end of spectrum have very difficult behaviour and can only attend special school.
• normal intelligence cope educationally in mainstream school but have problems socially.
• Input by both speech therapist and psychologist.
• Medical
o Treatment of medical conditions e.g. Fragile X, PKU, tuberous sclerosis, neurofibromatosis.
o Correction of hearing/visual defects.
o Genetic counselling.
o Medication (limited role): Antipsychotics to manage challenging behaviour , Anticonvulsants for epilepsy SSRI for mood disorder. Methylphenidate for children with hyperactivity
• Psychosocial
o Education. Speech Therapy. Family Support. Behavioural methods. Counselling. Respite.
o Applied Behaviour Analysis (also known as Early Intensive Behavioural Intervention)
o Picture Exchange Communication System
• Social
o social skills training for older/teenager
o CBT for OCD behaviour
• Strategies
o Use simple language and short sentences
o Support with alternative means of communication
o Use visual timetables to help make future predictable
o Unwritten social rules may need explaining
o Consider sensory problems

49
Q

what is the definition of blindness?

A

if requires education by methods which cannot involve sight (e.g., Braille)

50
Q

what is the definition of partial blindness?

A

if special education, but can use methods that depend on sight (large-print books).

51
Q

aetiology of blindness

A

optic atrophy
congenital cataracts
choroidoretinal degeneration

50% cases - genetically determined, 1/3 - perinatal (retinopathy of prematurity)

52
Q

clinical features of blindness

A

eyes - nystagmus or roving, purposeless eye movement

babies have an altered pattern of development - smiling at usual age, but less consistent, as develop, response to sound unaccompanied by turning toward source

motor skills - delayed, hard regard poor, development of fine pincer grip slow

early language development maybe normal - vocabulary + complex language maybe delayed

hearing deficits or severe learning difficulties.

53
Q

presentation and diagnosis of blindness

A

neonatal period (cataracts, nystagmus or roving, purposeless eye movement)

parental concern about falling to elicit eye contact

examination by an ophthalmologist, young child, visual evoked response testing - electrophysiological method of evaluating response to light + special visual stimuli

54
Q

management of blindness

A

• Early intervention to promote developmental progress.
• Family support, appropriate educational resources. Peripatetic teacher provided by local authority or RNIB to advise parents in preschool years.
• Child with partial sight may cope in mainstream school (optical aids, illumination, reading material in very large type).
• Braille remains essential method of reading if severe visual deficit, providing learning disabilities are not present.
• Mobility training. Travel outside of school, initially under supervision and then independently.
• Issues for family
o Parents taught to stimulate infant using non-visual means, (touch and speech). Home adaptation for safety.
• Issues for school
o Mainstream nursery often appropriate, if peripatetic teacher support. Child’s intellect and ability to make use of residual vision, wishes of family and long-term prognosis determine whether mainstream school, partially sighted unit or school for the blind.

55
Q

what is the most common form of deafness

A

secretory otitis media

56
Q

how common is deafness

A

4% of school children have hearing loss
most mild
2/1000 moderate, will need hearing aids
1/1000 severe, will need hearing air + special education

57
Q

risk factors for deafness

A 
severe prematurity 
Hx of meningitis 
Hx of recurrent OM 
significantly delayed or unclear speech 
Fhx of deafness
parental suspicion of deafness 
children with CP 
children with cleft palate 
children with absent or deformed ears
58
Q

aetiology of deafness

A

Genetics - can be part of a syndrome eg Turner, Klinefelter’s syndrome

Intrauterine - TORCH, HIV, maternal drug/toxins eg alcohol, cocaine, streptomycin

Perinatal - prematurity, low birth weight, birth asphyxia, severe hyperbilirubinemia and sepsis

postnatal - meningitis, encephalitis, head injury.

unknown aetiology - 20-30%

59
Q

what is the most common cause of conductive hearing loss

A

glue ear

60
Q

what are the ref flags for deafness

A

sudden onset
unilateral sensorinerual deafness

could indicate a brain problem

61
Q

presentation for deafness

A

• Neurosensory deafness identified in newborn hearing screening.
• Parents concerned not responding to sound, or speech + language development delayed.
• If secretory OM, tympanic membranes look dull, retracted.
• Hearing deficit confirmed by audiological testing.
o If child cannot cooperate, brain stem evoked responses (BSER), electrophysiological measure used

62
Q

clinical features for deafness

A

• Vary with severity of hearing deficit and presenting age.
o Congenital: delayed in talking.
o Later onset: behavioural difficulties.
• Assoc medical conditions e.g., cerebral palsy.
• Chronic secretory OM: fluctuating hearing loss, middle ear fluid may resolve but return with each URTI.
• Frequent in learning disabilities, visual deficits and neuro disorders

63
Q

investigations for deafness

A
  • auditory brainstem response
  • otoacoustic emissions
  • audiometry
  • tympanometry
  • RINNES and WEBERs TEST
  • MRI or CT scan
  • Karyotyping
64
Q

treatment for conductive deafness

A

grommets +/- adenoidectomy

65
Q

treatment for sensorineural deafness

A

sing language that is tough in conjunction with oral speech

lip reading

hearing aid - amplifies sounds

cochlear implant - in very profound severe deafness

66
Q

what is the genetic makeup of fragile x syndrome

A
  • fragile site at the end of one of the long arms of X chromosome
  • 1 in 5000 males
67
Q

what is the most common cause of learning disabilities amongst boys

A

Fragile X Syndrome

68
Q

clinical features of fragile x syndrome

A 
normal structure 
broad forehead 
elongated face 
large prominent ears 
strabismus 
highly arched palates 
hyperextensible joints 
hand calluses (from self-abuse) 
pectus exavatum - indentiation of chest 
mitral valve prolapse 
enlarged testicles 
hypotonia 
soft, fleshy skin 
flat feet 
seizures 
learning difficulties (IQ <70) 
developmental delays 
30% have autism
69
Q

investigation for fragile X syndrome

A

diagnosis should be sought in any boy who has unexplained moderate or severe learning disabilities
antenatal testing - CVS or amniocentesis

70
Q

mx for fragile X syndrome

A

SALT
special needs education and behavioural therapy
ADHD - dextroamfetamien and methylphenidate
aripiprazole for mood stabilisation and anticonvulsants for seizures

Year 4 Paeds Conditions (10 decks)

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