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Paediatrics > Development > Flashcards

Development Flashcards

1
Q

How to define obesity in children?

A

BMI percentile charts are therefore needed to make an accurate assessment.

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2
Q

What test screens newborns for hearing problems?

A

otoacoustic emission test

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3
Q

At what age can most babies sit without support?

A

7-8 months

at 12m refer to paediatrician

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4
Q

At what age is it normal for febrile convulsions?

A

6m -5y

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5
Q

At what age can most infants run?

A

16m - 2y

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6
Q

At what age can infants ride a tricycle with pedals

A

3y

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7
Q

A baby is born with micrognathia, low-set ears, rocker bottom feet and overlapping of fingers - what condition is this?

A

Edward’s syndrome

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8
Q

At what age would the average child start to smile?

A

6 weeks

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9
Q

What is neonatal hypotonia associated with?

A

Prader-Willi
Neonatal sepsis
SMA
Hypothyroidism

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10
Q

A 2-week-old infant with a small chin, posterior displacement of the tongue and cleft palate

A

Pierre-Robin syndrome

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11
Q

Supravalvular aortic stenosis is found in a 3-year-old boy with learning difficulties

A

William’s Syndrome

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12
Q

upslanting palpebral fissures, epicanthic folds, small low-set ears and a round face

A

Down’s syndrome

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13
Q

Patients with Down’s syndrome are at an increased risk of?

A

Alzheimer’s

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14
Q

Where should babies who were born prior to 28 weeks gestation receive their first set of immunisations?

A

should receive their first set of immunisations at hospital due to risk of apnoea.

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15
Q

Hops on one leg?

A

3-4 years

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16
Q

Pulls to standing?

A

8-10 months

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17
Q

Squats to pick up ball?

A

18m

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18
Q

Little or no head lag on being pulled to sit

A

3m

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19
Q

Walks unsupported?

A

12-15m

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20
Q

Crawls?

A

8-10m

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21
Q

newborn baby has an abnormal hearing test at birth?

A

offer auditory brainstem response test

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22
Q

What can hand preference before 12 months be an indicator of?

A

Cerebral palsy

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23
Q

What is the Moro reflex?

A

the Moro reflex, or startle reflex, refers to an involuntary motor response that infants develop shortly after birth. A Moro reflex may involve the infant suddenly splaying their arms and moving their legs before bringing their arms in front of their body.

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24
Q

When does the Moro reflex disappear?

A

4 months

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25
Q

Autosomal recessive conditions are typically what?

A

Metabolic

exception - inherited ataxias

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26
Q

Autosomal dominant conditions are typically what?

A

Structural

exceptions - Gilbert’s, hyperlipidaemia type II

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27
Q

What would you expect to find on cardiac exam of girl with Turner syndrome?

A

systolic murmur in the left infraclavicular area and under the left scapula due to aortic coarctation

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28
Q

webbed neck, pectus excavatum and short stature, pulmonary stenosis?

A

Noonan syndrome

autosomal dominant

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29
Q

By what age is autism normally apparent?

A

3 years

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30
Q

X-linked recessive condition?

A

there is no male-to-male transmission. Affected males can only have unaffected sons and carrier daughters.

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31
Q

First sign of puberty in boys?

A

increase in testicular volume

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32
Q

When is neonatal blood spot screening test performed?

A

between fifth and ninth day of life

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33
Q

Child asks ‘what’ and ‘who’ questions

A

3 years

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34
Q

Child combines 2 words

A

2 years

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35
Q

Child asks why when and how questions

A

4 years

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36
Q

Next step for newborns with a positive heel prick for CF (i.e., raised immunoreactive trypsinogen)?

A

Sweat test

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37
Q

A baby is born with microcephaly, small eyes, low-set ears, cleft lip and polydactyly

A

Patau syndrome - trisomy 13

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38
Q

Infant says mama and dada

A

9 m

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39
Q

A boy with learning difficulties is noted to be extremely friendly and extroverted. He has short for his age and has supravalvular aortic stenosis

A

William’s syndrome

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40
Q

What is the most common cause of childhood hypothyroidism in the United Kingdom?

A

Autoimmune thyroiditis

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41
Q

Trident hands, short limbs (rhizomelia), lumbar lordosis and midface hypoplasia

A

Achondroplasia

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42
Q

What is fragile X associated with?

A

Autism

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43
Q

Child can talk in short sentences (e.g., 3-5 words)

A

2.5-3 years

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44
Q

Child is vocal of 2-6 words

A

12-18m

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45
Q

Child responds to their own name?

A

9-12m

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46
Q

Corrected age of a premature baby?

A

the age minus the number of weeks he/she was born early from 40 weeks

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47
Q

Features of androgen insensitivity syndrome?

A
  • ‘primary amenorrhoea’
  • undescended testes causing groin swellings
  • breast development may occur as a result of conversion of testosterone to oestradiol
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48
Q

elfin facies, strabismus, broad forehead and short stature

A

William’s syndrome

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49
Q

Most common cause of ambiguous genetalia in newborns?

A

congenital adrenal hyperplasia

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50
Q

What is gastroschisis?

A

refers to a defect lateral to the umbilicus

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51
Q

What is omphalocele?

A

refers to a defect in the umbilicus itself

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52
Q

What is gastroschisis associated with?

A

Gastroschisis is associated with socioeconomic deprivation (maternal age <20, maternal alcohol/tobacco use)

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53
Q

Palmar grasp

A

5-6m

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54
Q

Draws circle

A

3 years

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55
Q

Tower of 3-4 blocks

A

18m

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56
Q

What is the definition of precocious puberty?

A

‘development of secondary sexual characteristics before 8 years in females and 9 years in males’

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57
Q

What is anticipation?

A

Anticipation in trinucleotide repeat disorders = earlier onset in successive generations

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58
Q

An infant is found to have small eyes and polydactyly

A

Patau syndrome

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59
Q

A boy is noted to have a webbed neck and pectus excavatum

A

Noonan syndrome

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60
Q

Management of exomphalos?

A

gradual repair to prevent respiratory complications.

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61
Q

Management of gastroschisis?

A

Urgen correction

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62
Q

When is MMR vaccine first given?

A

12-13 months

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63
Q

Good pincer grip

A

12m

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64
Q

Preterm birth (<37 weeks) is a key risk factor for?

A

Neonatal hypoglycaemia

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65
Q

How to support people with Down syndrome who participate in sports that may carry an increased risk of neck dislocation (e.g. trampolining, gymnastics, boxing, diving, rugby and horse riding)

A

Screen for atlanto-axial instability

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66
Q

A baby is noted to have micrognathia and a cleft palate. He is placed prone due to upper airway obstruction. There is no family history of similar problems

A

Pierre-Robin syndrome

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67
Q

Squint in newborn persisting for > 8 weeks

A

Refer

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68
Q

What is Down’s syndrome?

A

trisomy 21

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69
Q

Features of Down’s syndrome?

A

Hypotonia (reduced muscle tone)

Brachycephaly (small head with a flat back)

Short neck

Short stature

Flattened face and nose

Prominent epicanthic folds

Upward sloping palpebral fissures

Single palmar crease

Brushfield spots in iris

Protruding tongue

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70
Q

Risk factors for Down’s?

A

↑age mother

prev child with DS

parental consanguinity

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71
Q

Complications of Down’s?

A

Learning disability

Recurrent otitis media

Deafness. Eustachian tube abnormalities lead to glue ear and conductive hearing loss.

Visual problems such myopia, strabismus and cataracts

Hypothyroidism occurs in 10 – 20%

Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot

Atlantoaxial instability

Short stature

Subfertility - males infertile due to impaired spermatogenesis, females are sub fertile but ^ problems with pregnancy and labour

Leukaemia (ALL) is more common in children with Down’s

Dementia (Alzheimer’s) is more common in adults with Down’s

Duodenal atresia

Hirschsprung’s disease

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72
Q

Testing for Down’s?

A

Combined test: 11 - 14 wks. USS nunchal translucency (thickened), maternal bloods: ↑βhCG, ↓PAPPA

If book later, triple/ quadruple test at 14-20 wks

Triple: ↑bHCG, ↓AFP, ↓oestriol

Quadruple: ↑inhibin A, ↑bhCG,↓AFP, ↓oestriol

If risk > 1 in 150, then amniocentesis (later in pregnancy) or CVS (before 15 wks) for karyotyping

Non-invasive prenatal testing: mothers blood for fragments of DNA from fetus.

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73
Q

Management of Down’s?

A

MDT approach: OT, SALT, physio, dietician, paeds, GP HV’s, ENT, audiologist, opticians, SS’s, educational support, charities

Routine follow up: TFTs 2 yrly, ECHO, audiometry, eye checks

74
Q

Prognosis of Down’s?

A

Depends on severity of associated complications

Average life expectancy is 60 yrs

75
Q

What is Turner’s syndrome?

A

Female, single X chromosome, deletion of short arm of 1X chromosome. 45XO, 45X

Affects 1 in 2500 females

76
Q

Features of Turner syndrome?

A

Short stature
Webbed neck
High arching palate
Short 4th metacarpal
Multiple pigmented naevi
Down sloping eyes, ptosis
Low hairline, low set ears
Broad/shield chest, widely spaced nipples
Spoon shaped nails
Cubitus valgus: arm extended down, palm face inwards, forearm of elbow exaggerated
Underdeveloped ovaries, ↓function, infertility, 1° amenorrhoea

77
Q

Complications of Turner syndrome?

A 
Recurrent OM/UTI
Coarctation of aorta 
Bicuspid aortic valve 
Hypothyroid 
Horseshoe kidneys
HTN, DM
Obesity 
Osteoporosis 
LD
Cystic hygroma
Lymphoedema in neonates
AI disease, AI thyroiditis, CD
78
Q

Diagnosis of Turner syndrome?

A

Hypergonadotropic hypogonadism

USS showing streak (fibrous gonads + small uterus)

79
Q

Management of Turner syndrome?

A

Help with Sx

GH: prevent short stature

Oestrogen + progesterone > establish 2° female characteristics, regulate menstrual cycle + prevent osteoporosis

Fertility Tx

Monitoring for associated condition and complications - HTN, hypothyroidism

80
Q

What is Klinefelter’s syndrome?

A

Extra copy of X, in males, sex chromosome nondisjunction during maternal/paternal meiotic dysfunction
47XXY

Can even have more X chromosomes - 48 XXXY or 49 XXXXY

81
Q

Features of Klinefelter’s syndrome?

A

Usually patients with Kleinfelter syndrome appear as normal males until puberty. At puberty can develop features suggestive of the condition:

Taller height, ↓upper to lower extremity ratio
Wider hips
Gynaecomastia
Weaker muscles
Small testicles
Reduced libido
Shyness
Infertility
↓facial/body hair 
Subtle learning difficulties (particularly affecting speech and language, delayed speech/language)
82
Q

Complications of Klinefelter’s syndrome?

A 
Psychiatric disorders
Autism 
Chronic bronchitis, emphysema 
Leg ulcers
DM
Germ cell tumour, breast Ca, NH lymphoma
83
Q

Diagnosis of Klinefelter’s syndrome?

A

↓testosterone
Hypergonadotropic hypogonadism

Karyotyping

84
Q

Management of Klinefelter’s syndrome?

A

Testosterone replacement

Breast tissue removal

Counselling

IVF

MDT - SALT, OT, PT, educational support

85
Q

Summary of DiGeorge syndrome?

A

22q11.2 deletion, failure to develop 3rd and 4th pharyngeal pouches

Common features include congenital heart disease (e.g. tetralogy of Fallot), learning difficulties, hypocalcaemia, recurrent viral/fungal diseases, cleft palate

↓PTH, ↓Ca
↓T cell no + function

CATCH-22 - Cardiac abnormalities, Abnormal face, Thymic aplasia, Clef palate, Hypocalcaemia/PTH (seizure, tetany, osteoporosis)

Management - MDT approach 
Immune system support: blood transfusion, vaccines, Abx for infection 
Thymus transplantation 
Cardiac surgery 
Vit D, ca supplements
86
Q

Summary of Patau’s syndrome?

A

Trisomy 13

Not genetically inherited, related to ^ maternal age

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions

Many don’t survive 1st few wks of life, die IU/ still born
LD
CHD, septal defects
Curtis aplasia = areas of missing skin

Amniocentesis/CVS: ↓PPA, serum B-hCG, uE3, AFP, quadruple screen

87
Q

What is Edward’s syndrome?

A

Trisomy 18

Linked to ↑maternal age. M>F.

Up to 50% die within 1st wk.

88
Q

Features of Edward’s syndrome?

A 
Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Undescended testes 
Hypotonia 
Ocular hypertelorism, abnormal retinal pigment

FTT/ IUGR
Severe LD
ASD, VSD, PDA
Omphalocele, intestinal malrotation Meckel’s

89
Q

Testing for Edward’s syndrome?

A

Combined test: Unchanged inhibin A. ↓PAPP-A, BhCG, uE3, AFP
USS: cardiac, choroid plexus cysts, NTD, abnormal hand + feet position, exomphalos, growth restriction, single umbilical a, polyhydramnios, small placenta

90
Q

What is Fragile X syndrome?

A

Anticipation phenomenon.

X-linked. AR

Defect in 5’ untranslated region of FMR1 (fragile mental retardation 1) > trinucleotide expansion > abnormal length > ↑methylation > promoter region methylation > ↓FMR protein synthesis

Mutation during oogenesis

91
Q

Features of Fragile X syndrome?

A 
delay in speech and language development
Intellectual disability
Long, narrow face
Large ears
Large testicles after puberty
Hypermobile joints (particularly in the hands)
Attention deficit hyperactivity disorder (ADHD)
Autism
Seizures

Males always affected > Macroorchidism

Females vary in degree they’re affected > ovarian insuff, early menopause

92
Q

Complications of Fragile X syndrome?

A

Mitral valve prolapse
Parkinsonism
STM loss
Seizures in childhood, resolves in adulthood
Carrier: aggregation of mRNA binding protein, toxic effects to cell function, neurodegen.

93
Q

Diagnosis of Fragile X syndrome?

A

CVS or amnio
Analysis of number of CGG repeats using restriction endonuclease digestion + Southern blot analysis
Male: IQ 20-60

94
Q

Management of Fragile X syndrome?

A 
ADHD Tx see MH
SSRIs
Anticonvulsants 
Oestrogen replacement therapy
Counselling, psychotherapy, SALT
95
Q

What is Noonan syndrome?

A

Majority AD

‘male Turner’s’

defect on Chr12, normal karyotype

96
Q

Features of Noonan syndrome?

A

Webbed neck

Widely spaced nipples

Ptosis, wide spaced, down-slanting eyes, vivid blue or blue-green

Inverted triangular face

Low set ears

Flat nasal bridge

Short stature

Cryptorchidism

Sparse eyebrows/ lashes.

97
Q

Complications of Noonan’s syndrome?

A

Cardiac - Pulmonary valve stenosis, hypertrophic cardiomyopathy, ASD

Infertility due to cryptorchidism. Fertility normal in women

LD

Lymphoedema

^ risk of leukaemia and neuroblastoma

Coagulation problems - factor XI deficiency

98
Q

Diagnosis of Noonan’s syndrome?

A

ECG

ECHO

FBC: anaemia, thrombocytopenia

PT, aPTT, bleeding time prolonged

Molecular genetic testing

Pigment abnormalities: café au lait, lentigines, nevi, keratosis

99
Q

Treatment of Noonan’s syndrome?

A

Surgery of undescended testes

GH Tx for short stature, somatropin

MDT

Often patient’s require corrective heart surgery

100
Q

Summary of Pierre-Robin syndrome?

A

SOX9 mutation

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate
Teeth present at birth

Recurrent ear infections
Heart murmur
Pul HTN

Management - Surgery
Airway support
MDT

101
Q

What is Prader-Willi syndrome?

A

Phenotype depends whether deletion on gene inherited from mother or father

Absence of PW gene on Chr15

deletion of this portion of the chromosome, or when both copies of chromosome 15 are inherited from the mother.

Prader-Willi syndrome if gene deleted from father
Angelman syndrome if gene deleted from mother

Imprinting

102
Q

Features of Prader-Willi syndrome?

A

hypotonia during infancy

short stature

Constant insatiable hunger that leads to obesity

hypogonadism and infertility

learning difficulties

behavioural problems in adolescence

Almond shaped eyes
Strabismus
Thin upper lip
Downturned mouth

103
Q

Management of Prader-Willi syndrome?

A

Dietician - limiting access to food under guidance to control weight - locking in cupboards, locks on fridge

Lower than normal calorie intake, due to lower activity levels from poor muscle strength and tone

Education of family, schools, carers

GH - improve muscle development and body composition

MDT - dieticians, education support, social workers, psychologists/psychiatrists, PT, OT

104
Q

What is Angelman syndrome?

A

caused by loss of function of the UBE3A gene, specifically the copy of the gene that is inherited from the mother

caused by a deletion on chromosome 15, a specific mutation in this gene or where two copies of chromosome 15 are contributed by the father, with no copy from the mother.

105
Q

Features of Angelman syndrome?

A

Happy demeanour

Fascination with water

Widely spaced teeth

Hand flapping 
Ataxia, toe-walking
Jerky-tremulous limbs 
Hypopigmentation
Microcephaly 
Maxillary hypoplasia 
Large mouth 
Protruding tongue 
Prominent nose
106
Q

Management of Angelman syndrome?

A

MDT - parental education, SS’s, educational support, PT, OT, psychology, CAHMS, AED’s

107
Q

What is William’s syndrome?

A

Microdeletion on Chr7

Result of random deletion, rather than inherited

108
Q

Features of William’s syndrome?

A 
elfin-like facies
Starburst eyes - star pattern on iris 
characteristic like affect - very friendly and social
Wide mouth, big smile 
learning difficulties
short stature
transient neonatal hypercalcaemia
supravalvular aortic stenosis
ADHD
109
Q

Diagnosis of William’s syndrome?

A

FISH studies (fluorescence in situ hybridization)

Echo: supravalvular aortic stenosis, hourglass aorta, LVH

USS: urinary tract abnormalities, eg bladder diverticular, renal aplasia

Transient neonatal ↑Ca, irritability, ↓appetite, constipation, hypotonia.

110
Q

Management of William’s syndrome?

A

Early intervention education: physical language, OT

Associated condition treatment: eg aortic stenosis repair, HTN

Low calcium diet, avoid calcium and Vit D supplements

111
Q

Summary of Cri du chat?

A

Chromosome 5p deletion syndrome

Characteristic cat cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism
Physical signs less prominent with age

FISH, molecular genetic tests

Early intervention, education, language, OT, heart defect repair

112
Q

Summary of fetal alcohol syndrome?

A

Prolonged alcohol ingestion in pregnancy

Baby may show symptoms of alcohol withdrawal at birth e.g. irritable, hypotonic, tremors

short ­palpebral fissure
thin vermillion border/hypoplastic upper lip
smooth/absent filtrum
learning difficulties
microcephaly
growth retardation
epicanthic folds
cardiac malformations
113
Q

Summary of short stature in children?

A

<2nd centile/3 below mid-parenteral ht, or growth decel

Boys (Dad cm + mum + 13) / 2
Girls (father + mothers – 13) / 2

Infants: IUGR, FTT

Adolescents: constitutional delay, abnormal delay

Endocrine (↑BW): hypothyroid, GH def, Cushing’s adrenal hyperplasia.

Nutritional: short + under-wt wt more sensitive than growth.

Emotional abuse suppress HPA

Chr: Turner’s, Prader-Willi, Noonan’s, Down’s

Disproportionate: scoliosis or skeletal dysplasia

GH def: milestones delay hypoglycaemia/poor muscle development, short stature with delayed bone age, often puberty normal

Hypothyroidism: prolonged neonatal jaundice, FTT, delayed MS, sleepy/quiet baby, large tongue, hypotonia

Familial: most short kids have short parents, fall in target range for mid-parental height, normal parameters + bone age for chronological age.

Use growth charts, assess puberty, bone age, delayed growth (look for GH def, hypothyroid, constitutional, chronic disease), advanced (precocious puberty, hyperthyroid, obesity), equivalent (IUGR, familial)

GH injection - deficiency, turner/noonan, Prader-Willi, CKD, IUGR,

114
Q

What is achondroplasia?

A

most common cause of disproportionate short stature (dwarfism). It is a type of skeletal dysplasia.

fibroblast growth factor receptor 3 (FGFR3), is on chromosome 4 > sporadic mutation or inheritance (AD)

homozygous - fatal in neonatal. so pt’s have one normal gene and one abnormal

causes abnormal function of epiphyseal plates, restricting bone growth in length

115
Q

Features of achondroplasia?

A

disproportionate short stature. The average height is around 4 feet

short limbs
spine less affected, normal trunk length
lumbar lordosis

short digits - trident hands
bow legs (genu varum)
disproportionate skull - flattened mid-face and nasal bridge
foramen magnum stenosis

Recurrent otitis media, due to cranial abnormalities
Kyphoscoliosis
Spinal stenosis
Obstructive sleep apnoea
Obesity
Foramen magnum stenosis can lead to cervical cord compression and hydrocephalus

116
Q

Management of achondroplasia?

A

MDT - paediatricians, specialist nurses, PT, OT, dieticians, orthopaedic surgeons, ENT surgeons, geneticists

leg lengthening surgery

117
Q

Summary of pituitary dwarfism?

A

GH def in childhood. Can be accompanied by ↓secretion of other pit hormones.
Caused by: pit or hypothalamic tumours, infections (meningitis, syphilis), pit infarction, vascular malformations, head trauma

Skeleton fails to grow, 120-130cm in height, with normal proportions

Recombinant GH therapy allows some to catch up

118
Q

What is Laron dwarfism?

A

Mimics GH def.
Mutation in GH receptor, unresponsive

Retardation of growth, same short stature + appearance as those who lack GH

GH ↑ + IGF-1 + IGF BindingProtein3 are ↓.

Treated with recombinant IGF-1

119
Q

Summary of tall stature in children?

A

Most common familial
Genetic: Klinefelter’s, Marfan’s
Endocrine: GH XS (gigantism), hyperthyroid, congen adrenal hyperplasia
Precocious puberty
Tall stature at birth, hyperinsulinism, Beckwith synd

Obesity advances puberty so ↓ final height

Calculate BMI

120
Q

Normal puberty?

A

Puberty starts age 8 – 14 in girls and 9 – 15 in boys. It takes about 4 years from start to finish. Girls have their pubertal growth spurt earlier in puberty than boys.

Girls - breast buds, then pubic hair, finally menstrual periods after 2 years from start of puberty

Boys - enlargement of testicles, then penis, gradual darkening of scrotum, development of pubic hair, deepening of voice

Tanner staging

121
Q

Causes of delayed puberty?

A

Hypogonadotropic hypogonadism - deficiency of LH and FSH

Hypergonadotrophic hypogonadism - lack of response to LH and FSH by gonads

Constitutional: temp, not pathologic, onset naturally late, genetic component

122
Q

What is hypogonadotrophic hypogonadism?

A

Deficiency of LH and FSH, leading to deficiency of testosterone and oestrogen

Caused by:
- abnormal functioning of hypothalamus or pituitary gland:
Previous damage to the hypothalamus or pituitary, for example by radiotherapy or surgery for previous cancer
Growth hormone deficiency
Hypothyroidism
Hyperprolactinaemia (high prolactin)
Serious chronic conditions can temporarily delay puberty (e.g. cystic fibrosis or inflammatory bowel disease)
Excessive exercise or dieting can delay the onset of menstruation in girls
Constitutional delay in growth and development is a temporary delay in growth and puberty without underlying physical pathology
Kallman syndrome

123
Q

What is hypergonadotrophic hypogonadism?

A

Gonads fail to respond to gonadotrophin, no negative feedback so AP produces ^ amounts of LH and FSH

Result of abnormal functioning. Due to:
Previous damage to the gonads (e.g. testicular torsion, cancer or infections, such as mumps)
Congenital absence of the testes or ovaries
Kleinfelter’s Syndrome (XXY)
Turner’s Syndrome (XO)

124
Q

Complications of delayed puberty?

A

Permanent infertility if puberty never begins/fails to complete, sexual maturity never reached

Delayed puberty short stature: Turner’s, Prader-Willi, Noonan’s

Delayed puberty normal stature: PCOS, androgen insensitivity, Kallman’s Klinefelter’s

125
Q

Investigations for delayed puberty?

A

Investigations begin at 13 in girl or 14 in boy, or some evidence of puberty but no progression over 2 years

underlying medical conditions > FBC (ferritin, anaemia), U&E for CKD, anti-TTG or anti-EMA for coeliac

↓test, oestrogen in ↓gonad activity,

early morning FSH and LH > ↓FSH, LH in supressed pit., high in hypergonadotrophic

TFTs, PRL.

GH testing > ILGF1

Karyotype. > Klinefelter’s (XXY) or Turners (XO)

Pelvic USS: presence of ovaries/ uterus

X-ray of wrist - bone age, constitutional delay

MRI brain - pituitary pathology, assess olfactory bulbs in Kallmans

Tanner scale

126
Q

Management of delayed puberty?

A

HRT
Infertility treatments

Constitutional delay - require reassurance and observation

127
Q

What is precocious puberty?

A

‘development of secondary sexual characteristics before 8 years in females and 9 years in males’

more common in females

( thelarche (the first stage of breast development)
adrenarche (the first stage of pubic hair development) )

Classified into:

  • gonadotrophin dependent (central, true) - due to premature activation of HPG axis, LH + FSH raised
  • gonadotrophin independent (pseudo, false) - due to excess sex hormones, FSH & LH low
128
Q

Causes of precocious puberty?

A

Central, gonadotropin dependent - Hypothal/ pit tumour, cyst, infection, radiation, brain damage (impairs neg feedback), idiopathic, familial, hyperthyroid, obesity

Peripheral, gonadotrophin independent - overproduction of sex hormones, FSH, LSH ↓. Ovarian/ testicular cyst/ tumour, genetic, thyroid/ adrenal gland, exogenous hormones from meds, creams

129
Q

Features of precocious puberty?

A

Progress through Tanner scale before 95% other children at same age

Early sexual maturation

Isolated pubarche > adrenarche usually cause

Isolated thelarche > often benign

Dissonance: seq pathological. Hirsutism/ Clitoromegaly in girls, enlarged penis in boys

Males - uncommon and usually has an organic cause
Bilat testicular enlargement: hypergonadotropic
Unilat testicular large: tumour in that testicle
Small testes = adrenal

Female: idiopathic or familial + follows normal sequence of puberty

Organic causes - rare, associated with rapid onset, neurological Sx, e.g., McCune Albright syndrome

130
Q

Investigations for precocious puberty?

A

MRI: structural abnormalities
USS: gonads
X-ray: estimates bone maturation
Lab results: gonadotropin hormone levels, Early morning testosterone. GnRH stimulation test to determine central vs peripheral > LH/FSH rise in central not peripheral.
Physical exam: assess growth compared to age, Tanner scale

131
Q

Tanner scale?

A

1 - No pubic hair, small testes + penis, flat chest

2 - Pubic hair, testes enlarge + breast buds

3 - Pubic hair coarser, penis enlarge, breast mounds

4 - Pubic hair cover pubic area, penis widens, breast enlargement

5 - Pubic hair extends to inner thigh, penis, testes enlarge to inner thigh + breasts take on adult contour

132
Q

Management of precocious puberty?

A

Hormone therapy: GnRH analogues > suppress HPA, ↓release of LH, FSH, slows puberty

Surgical removal of tumour/cyst from ovaries/testicles

133
Q

What is congenital adrenal hyperplasia?

A

congenital deficiency of the 21-hydroxylase enzyme. This causes underproduction of cortisol and aldosterone and overproduction of androgens from birth.

inherited in an autosomal recessive pattern.

In a small number of cases it is caused by a deficiency of 11-beta-hydroxylase rather than 21-hydroxylase.

134
Q

What is congenital adrenal hyperplasia?

A

a congenital deficiency of the 21-hydroxylase enzyme

causes underproduction of cortisol and aldosterone and overproduction of androgens from birth

autosomal recessive pattern

In a small number of cases it is caused by a deficiency of 11-beta-hydroxylase rather than 21-hydroxylase.

135
Q

Pathophysiology of congenital adrenal hyperplasia?

A

21-hydroxylase is the enzyme responsible for converting progesterone into aldosterone and cortisol.

Progesterone is also used to create testosterone, but this conversion does not rely on the 21-hydroxylase enzyme.

In CAH, there is a defect in the 21-hydroxylase enzyme. Therefore, because there is extra progesterone floating about that cannot be converted to aldosterone or cortisol, it gets converted to testosterone instead.

The result is a patient with low aldosterone, low cortisol and abnormally high testosterone.

136
Q

Presentation of severe cases of congenital adrenal hyperplasia?

A

Female patients with CAH usually presents at birth with virilised genitalia, known as “ambiguous genitalia” and an enlarged clitoris due to the high testosterone levels.

Patients with more severe CAH present shortly after birth with hyponatraemia, hyperkalaemia and hypoglycaemia. Causing S+S of: poor feeding, vomiting, dehydration and arrhythmias

Adrenal crisis if low aldosterone

Infertility

137
Q

Presentation of mild cases of congenital adrenal hyperplasia?

A

Present during childhood or after puberty. Sx relate to high androgen levels

Females: tall for age, facial hair, absent periods, deep voice, early puberty

Males: tall for age, deep voice, large penis, small testicles, early puberty

Skin hyperpigmentation - occurs because the AP gland responds to low levels of cortisol by producing increasing amounts of ACTH, causing adrenal hyperplasia. A byproduct of ACTH is melanocyte stimulating hormone, which stimulates melanin production.

138
Q

Management of congenital adrenal hyperplasia?

A

Specialist paediatric endocrinologists

Cortisol replacement - hydrocortisone

Aldosterone replacement - fludrocortisone

Female pt’s with ‘virilised’ genitals may require corrective surgery

139
Q

What is constitutional delay of growth and puberty?

A

Temp delay in skeletal growth, height + puberty in children. Eventual adult height normal

Often familial, normal variation

↓ GH > ↓ IGF-1/ somatomedin C (prevents cell death), ↓ cell metabolism, division, differentiation in body.

↓GnRH > ↓LH, FSH > ↓ oest, test > delayed development of sex organs + 2° sexual characteristics.

Normal size at birth
Short preadolescent stature, growth rate decline, may fall to 2nd percentile, growth picks up again, matches peers around 4. Growth spurt later than normal + can catch up with peers.

Investigations - ↓LH/FSH
Growth chart
Hand XR: delayed bone development. At least 1 yr < child’s age. Delayed Tanner scale staging
Normal TFT, 24 hr urine cortisol, stimulated GH test shows not a tumour.

Management - exclude pathology, can trigger puberty if pt. desires, provide reassurance regarding eventual normal growth + development

140
Q

What is Kallmann syndrome?

A

cause of delayed puberty secondary to hypogonadotropic hypogonadism

X-linked recessive trait

thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus, and defect in migration of neurons from olfactory placode to cribriform plate forming olfactory bulb

141
Q

Features of Kallmann syndrome?

A

‘delayed puberty’

hypogonadism, cryptorchidism

anosmia

sex hormone levels are low

LH, FSH levels are inappropriately low/normal

patients are typically of normal or above average height

Cleft lip/palate and visual/hearing defects are also seen in some patients

142
Q

Management of Kallmann syndrome?

A

Hormone therapy: stimulate puberty, development of 2° sex characteristics

Ca, vit D: osteopenia

Infertility treatments

143
Q

What is cleft lip/palate?

A

affect around 1 in every 1,000 babies

can be isolated lip/palate or combined

cleft lip results from failure of the fronto-nasal and maxillary processes to fuse

cleft palate results from failure of the palatine processes and the nasal septum to fuse

polygenic inheritance

maternal antiepileptic use increases risk, also IU hypoxia, pesticides, folate def.

neurodevelopment conditions - Patau, Edward, Pierre Robin

144
Q

Problems with cleft lip/palate?

A

Feeding - orthodontic devices may be helpful

Speech - dysphonia (hyper nasal, air leaks to nasal cavity), dysarthria (speech difficulty, distorted word structure)

^ risk of otitis media for cleft palate babies

nasal cavity infection as food trapped in nasal cavity

145
Q

Diagnosis of cleft lip/palate?

A

Prenatal USS: integrity of nares, upper lip, hard + soft palate.

MRI: evaluation of associated extra/ intracranial abnormalities

146
Q

Management of cleft lip/palate?

A

Cleft lip: repair 1st wk of life – 3mnths

Cleft palate: 6-12 mnth

Folate in pregnancy

MDT > plastic, maxillofacial and ENT surgeons, dentists, SALT/ dietician, psychologist, GP

147
Q

What is failure to thrive?

A

poor physical growth and development in a child

Sub optimal WG in infants/ toddlers

faltering growth in children as a fall in weight across:

One or more centile spaces if their birthweight was below the 9th centile
Two or more centile spaces if their birthweight was between the 9th and 91st centile
Three or more centile spaces if their birthweight was above the 91st centile

148
Q

Causes of failure to thrive?

A 
Inadequate nutritional intake - Maternal malabsorption if breastfeeding
Iron deficiency anaemia
Family or parental problems
Neglect
Availability of food (i.e. poverty)

Difficulty feeding - poor suck (e.g., CP), cleft lip or palate, genetic conditions with abnormal facial structure, pyloric stenosis

Malabsorption - CF, coeliac disease, cows milk intolerance, chronic diarrhoea, IBD

Increased energy requirements - hyperthyroidism, chronic disease (congenital heart disease and CF), malignancy, chronic infections (HIV/immunodeficiency)

Inability to process nutrition - inborn errors of metabolism, T1DM

149
Q

Assessment of failure to thrive?

A

Pregnancy, birth, developmental and social history
Feeding or eating history
Observe feeding
Mums physical and mental health
Parent-child interactions
Height, weight and BMI (if older than 2 years) and plotting these on a growth chart
Calculate the mid-parental height centile

150
Q

Investigations for failure to thrive?

A

Urine dipstick, for urinary tract infection

Coeliac screen (anti-TTG or anti-EMA antibodies). Think coeliac if starts when weaning.

Focused investigations if suspect underlying diagnosis, such as cystic fibrosis or pyloric stenosis.

151
Q

Management of failure to thrive?

A

depends on the cause

may involve input from the multidisciplinary team

regular reviews to monitor weight gain

support if difficulty breast feeding > midwives, health visitors, peers groups and “lactation consultants”, supplementing with formula milk

if inadequate nutrition > regular structured mealtimes and snacks, reduce milk consumption to improve appetite for other foods, review by a dietician, additional energy dense foods to boost calories, nutritional supplements drinks

if other measures fail > enteral tube feeding.

152
Q

What is cow’s milk protein allergy?

A

typically affecting infants and young children under 3 years.

It involves hypersensitivity to the protein in cow’s milk

may be IgE mediated, in which case there is a rapid reaction to cow’s milk, occurring within 2 hours of ingestion.

can also be non-IgE medicated, with reactions occurring slowly over several days.

more common in formula fed babies and those with a personal or family history of other atopic conditions.

153
Q

Presentation of cow’s milk protein allergy?

A

usually presents before 1 year of age

may become apparent when weaned from breast milk to formula milk or food containing milk

can present in breastfed babies when the mother is consuming dairy products.

Gastrointestinal symptoms: Bloating and wind, Abdominal pain, Diarrhoea, Vomiting

General allergic symptoms in response to the cow’s milk protein: Urticarial rash (hives), Angio-oedema (facial swelling), Cough or wheeze, Sneezing, Watery eyes, Eczema

Rarely in severe cases anaphylaxis can occur.

154
Q

Management of cow’s milk protein allergy?

A

Clinical diagnosis from Hx and O/E

Skin prick testing can help support diagnosis, not always necessary

Avoiding cow’s milk should resolve Sx > breast feeding mother’s avoiding dairy products, replace formula with specialised hydrolysed formulas designed for cow’s milk allergy

Hydrolysed formulas - contain cow’s milk but proteins been broken down so no longer trigger immune response. In severe cases infants may require elemental formulas made of basic amino acids (e.g., Neocate)

Most children will outgrow cow’s milk protein allergy by age 3, often earlier.

Every 6 months or so, infants can be tried on the first step of the milk ladder (e.g. malted milk biscuits) and then slowly progress up the ladder until they develop symptoms. Gradually be able to progress towards a normal diet containing milk.

155
Q

Cow’s Milk Intolerance versus Cow’s Milk Allergy?

A

Cow’s milk intolerance presents with the same gastrointestinal symptoms as cow’s milk allergy (bloating, wind, diarrhoea and vomiting), however it does not give the allergic features (rash, angio-oedema, sneezing and coughing).

Infants with cow’s milk intolerance will grow out of it by 2 – 3 years. They can be fed with breast milk, hydrolysed formulas and weaned to foods not containing cow’s milk. After one year of age they can be started on the milk ladder.

156
Q

What is intraventricular haemorrhage of newborn?

A

bleeding inside or around the ventricles in the brain

Preterm, unsupported BVs in germinal matrix (where neuronal cells originate), highly vascularised + unstable BP

Caused by: Birth trauma, cellular hypoxia, hypotension, hypercapnia, delicate neonatal CNS

4 grades - 4 being most severe and causing long-term brain injury

157
Q

Sx of intraventricular haemorrhage of newborn?

A

Majority 1st 72hrs after birth.

Bulging fontanelles

Cerebral instability

Altered consciousness

Hypotonia

Abnormal eye movement + position

Apnoea

Bradycardia

Weak suck

High-pitched cry

Anaemia

158
Q

Complications of intraventricular haemorrhage of newborn?

A 
Blood may clot + occlude CSF flow > hydrocephalus. 
Resp distress 
CP 
Low IQ
Seizures
159
Q

Diagnosis of intraventricular haemorrhage of newborn?

A

Hx and exam

USS

Low Hb

160
Q

Management of intraventricular haemorrhage of newborn?

A

Delayed cord clamping can ↓ risk

Preterm delivery (24-34 wks) - corticosteroids

Supportive - fluids and O2

↑ICP > shunting

Resp support

161
Q

What is periventricular leukomalacia?

A

a softening of white brain tissue near the ventricles due to lack of blood and oxygen

162
Q

Causes of periventricular leukomalacia?

A

Intraventricular haemorrhage

Uterine infections

PROM

Premature

LBW

163
Q

S+S of periventricular leukomalacia?

A

start to show at around one to two years old

degree depends on how much brain tissue damaged

most common symptom is cerebral palsy, a condition that affects coordination and movement

may have visual problems (nystagmus, cross eyes, strabismus, ROP) and/or LD

missed milestones

Spastic diplegia: muscles tight, unable to bend/flex

164
Q

Diagnosis and management of periventricular leukomalacia?

A

USS: echodense, may resolve or develop cystic lesions
CT/MRI
Gen IU, can occur after birth. Most 26-34 wks

Behav, speech, physical therapy, visual support

165
Q

What is SIDS?

A

Sudden infant death syndrome is the commonest cause of death in the first year of life. It is most common at 3 months of age.

166
Q

Risk factors for SIDS?

A

RFs additive

Major RF: sleeping prone, soft mattress, parental smoking, alcohol in preg, prem, LBW, bed sharing, head covering, hyperthermia (over-wrapping),

M>F, multiple births, social classes IV + V, maternal drug use, winter, viral infection, single parent, teen mother, little prenatal/ antenatal care

167
Q

Management of SIDS?

A

Careful evaluation of death to rule out other causes of death

Sibling screened for sepsis + inborn error of metabolism

Lullaby trust

Care of next infant (CONI) - extra support and home visits, resuscitation training and access to equipment such as movement monitors that alarm if the baby stops breathing for a prolonged period.

Preventative:
Protective: BF, room sharing, dummies, immunisation

Advice: don’t smoke in same room, avoid bed sharing, avoid sleeping with baby on sofa

Cot: don’t use pillow/ duvets, on back, alone in crib, tuck in blanket below shoulders to prevent covering head

168
Q

What is strabismus?

A

Squint: eyes look in different directions causing misalignment of visual axis

Normal variant until 3mnths

RF: prematurity

169
Q

Causes of strabismus?

A

1 eye: retinoblastoma, cataract retinopathy of prematurity

Concomitant: failure in developing binocular vision, due to refractive error in 1 or both eyes. Imbalance in extraocular muscles.
Divergent (eyes turn out), convergent (eyes turn in, most common. )

Paralytic: due to extra-ocular muscle paralysis

170
Q

Features of strabismus?

A

Diplopia: both eyes are open, may be absent in children with strabismus

Eye misalignment

Abnormal eye movements

171
Q

Complications of strabismus?

A

Uncorrected may lead to amblyopia (brain fails to fully process inputs from 1 eye + over time favours other eye)

172
Q

Investigations of strabismus?

A

Corneal light reflex: see if light reflects symmetrically

Cover eye test: child focus object, cover 1 eye, observe movement of uncovered eye, cover other eye + repeat. Strabismus if fellow eye makes re-fixation movement

Prism + cover test: if prism neutralises strabismus, no-fixation movement of deviating eye. Described according to quality e.g. esotropia or hypertropia + size. Used to measure angle of strabismus

173
Q

Management of strabismus?

A

Referral to ophthalmology if >3 mnths. May require eye patches to prevent amblyopia
Contact lenses or glasses

174
Q

What is 5 alpha reductase deficiency?

A

a condition that affects male sexual development before birth and during puberty. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads (testes)

AR sex-limited genetic mutation in SRD5A2 gene. Only affects males.

Defective 5αreductase, ↓testosterone to dihydrotestosterone, impaired 2° sexual characteristics development, internal male sex organs but external genitalia follow female path of development.

175
Q

Features of 5 alpha reductase deficiency?

A

Prepuberty: phallus doesn’t fully elongate, resembles something between clitoris + penis. Bifid scrotum (scrotum remains split), hypospadias, ambiguous genitalia.

Puberty: ↑testosterone, scrotum + phallus grow larger, male appearance, deepening of voice, muscle growth, facial, body hair.

Infertility
Inflammation
Infection of gonads due to malformation

176
Q

Investigations for 5 alpha reductase deficiency?

A

Genetic testing: karyotyping genetically male, confirm enzyme def

Normal serum testosterone level, ↓dihydrotestosterone ↑testosterone : to dihydrotestosterone ratio

177
Q

Treatment of 5 alpha reductase deficiency?

A

HRT: male/female sex hormones according to gender role adopted by individual

Surgical procedures to help restore external genitalia to nonambiguous

Assisted reproduction: internal genitalia don’t produce ova, may produce sperm.

178
Q

What is androgen insensitivity syndrome?

A

an X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype

testes produce androgens, can’t exert action because defect in androgen receptor

179
Q

Features of androgen insensitivity syndrome?

A

‘primary amennorhoea’

undescended testes causing groin swellings

breast development may occur as a result of conversion of testosterone to oestradiol

180
Q

Diagnosis of androgen insensitivity syndrome?

A

buccal smear or chromosomal analysis to reveal 46XY genotype

USS: absence of uterus, ovaries, cryptorchidism
↑testosterone, dihydrotestosterone
Genetic testing: genetically male

181
Q

Management of androgen insensitivity syndrome?

A

counselling - raise child as female

HRT: testosterone/ dihydrotestosterone if male role adopted, oestrogen if female.

Surgery: surgical removal of testes (esp in cryptorchidism) to ↓ cancer risk

External genitalia correction

Paediatrics (11 decks)

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