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Paediatrics > Development and growth in childhood > Flashcards

Development and growth in childhood Flashcards

1
Q

What is development?

A

Biological, psychological and emotional changes that occur between birth and adolescence as the individual progresses from dependency to increasing autonomy
It is a continuous process with a predictable sequence however unique course for each child
Development determined by interplay between genetic and environmental factors

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2
Q

What can influence a child’s development?

A 
Education
Genetics
Maternal nutrition
Mums health in pregnancy
Domestic violence
Healthy attachment
Exposure to substances
Parenting style
Prematurity
Nutrition
Medical conditions
Hearing and vision
Stimulating environment
Abuse and neglect
Parental mental health
Healthy peer relationships
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3
Q

What are the normal child development domains assess for 0-5 year olds?

A

Gross motor
Fine motor and vision
Speech, language, and hearing
Social interaction and self care skills

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4
Q

What should a newborn be able to do in terms of gross motor?

A

Flexed arms and legs, equal movements

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5
Q

What should a 3 month year old do in terms of gross motor development?

A

Lift head on tummy

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6
Q

What should a 6 month year old do in terms of gross motor development?

A

Lift chest up with arm support
Roll
Sit unsupported

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7
Q

What should a 9 month year old do in terms of gross motor development?

A

Pulls to stand up

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8
Q

What should a 1 year old do in terms of gross motor development?

A

Walk

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9
Q

What should a 2 year old do in terms of gross motor development?

A

Walk up stairs

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10
Q

What should a 3 year old do in terms of gross motor development?

A

Jump with both feet off floor

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11
Q

What should a 4 year old do in terms of gross motor development?

A

Hop

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12
Q

What should a 5 year old do in terms of gross motor development?

A

Ride a bike

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13
Q

What should a 4 month old do in terms of fine motor and vision development?

A

Grab an object

Use both hands

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14
Q

What should a 8 month old do in terms of fine motor and vision development?

A

Take a cube in each hand

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15
Q

What should a 12 month old do in terms of fine motor and vision development?

A

Scribble with crayon

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16
Q

What should a 18 month old do in terms of fine motor and vision development?

A

Build tower of 2 cubes

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17
Q

What should a 3 year old do in terms of fine motor and vision development?

A

Build a tower of 8 cubes (should get higher as get older from 18 months)

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18
Q

What should a 3 month old be able to do in terms of speech, language and hearing development?

A

Laugh and squeal

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19
Q

What should a 9 month old be able to do in terms of speech, language and hearing development?

A

Dada/mama

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20
Q

What should a 12 month old be able to do in terms of speech, language and hearing development?

A

1 word

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21
Q

What should a 2 year old be able to do in terms of speech, language and hearing development?

A

2 words, sentences, names, body parts

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22
Q

What should a 3 year old be able to do in terms of speech, language and hearing development?

A

Speech mainly understandable

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23
Q

What should a 4 year old be able to do in terms of speech, language and hearing development?

A

Knows colours

Count 5 objects

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24
Q

What should a 5 year old be able to do in terms of speech, language and hearing development?

A

Knows meaning of words

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25
Q

What should a 6 week old baby be able to do in terms of social/self-care development?

A

Smile spontaneously

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26
Q

What should a 6 month old be able to do in terms of social/self care development?

A

Finger feed

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27
Q

What should a 9 month old be able to do in terms of social/self care development?

A

Wave bye-bye

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28
Q

What should a 12 month old be able to do in terms of social/self care development?

A

Use spoon/fork

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29
Q

What should a 2 year old be able to do in terms of social/self care development?

A

Take some clothes off

Feed a doll

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30
Q

What should a 3 year old be able to do in terms of social/self care development?

A

Play with others
Name a friend
Put on a t-shirt

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31
Q

What should a 4 year old be able to do in terms of social/self care development?

A

Dress with no help

Play a board game

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32
Q

What are normal variants in gross motor development?

A

Bum shuffling
Commando crawling
Often run in families

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33
Q

What are the aims of healthy child programme?

A

Encourage care that keeps children healthy and safe
Protect children from serious diseases, through screening and immunisation
Promoting healthy eating and physical activity
Identify problems in children’s health and development
Make sure children are prepared for school
Identifies at risk families for more intensive support

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34
Q

What happens in the healthy child programme and when?

A 
Neonatal examination
New baby review around 14 days
Baby's 6-8 week examination - growth/feeding
By the time child is 1 - developmental
Between 2 and 2 1/2 - developmental
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35
Q

What happens a visits in the healthy child programme?

A

Growth and development checks
Discussion of parental concerns
At risk families identified

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36
Q

Why are the health visitor assessments in the healthy child programme?

A

See child in own environment
Use developmental screening tools to assess developmental level
Ask if parents have concerns with development
Health and developmental promotion advice
Monitor growth
Refer to paeds if abnormalities detected on screening

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37
Q

What is concerning in gross motor development?

A

Not sitting by 1

Not walking at 18 months - especially in boys ?muscular dystrophy

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38
Q

What is concerning in fine motor development?

A

Hand preference by 18 months - ?cerebral palsy/other neurological problem

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39
Q

What is concerning for speech and language development?

A

Not smiling by 3 months

No clear words by 18 months - ?hearing problems, ?learning disability, ?isolated speech and language problem

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40
Q

What is concerning for social development?

A

Not smiling by 3 months - ?visual impairment
No response to carers interaction by 8 weeks - ?autism
Not interested in playing with peers by 3 years - ?autism

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41
Q

What are red flags in a child’s development?

A 
Regression
Poor health/growth
Significant family history
Findings on examination eg microcephaly, dysmorphic features
Safeguarding indicators
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42
Q

What are the main questions to answer in a developmental assessment?

A

What is the developmental concern? Disordered or delayed?
Cause?
Support for child to reach developmental potential?

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43
Q

What does a developmental assessment do?

A

Compares a child’s abilities to age expectations

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44
Q

What is important to remember with child development?

A

Spectrum of normal

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45
Q

What screening tools may be used?

A

Schedule of growing skills, griffiths, Bailey’s

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46
Q

What is a developmental profile?

A

Build up a picture of childs skills and deficits

Developmental profile will give clues to diagnosis and tell you where support required

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47
Q

What questions should you ask in a detailed clinical history for development?

A

Results of antenatal screening
Hx of parental substance abuse/domestic violence during pregnancy
Prematurity and neonatal concerns
FHx, consanguinuity
Early developmental history - develop timelines
Current concerns
Information from nursery or school

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48
Q

What should you look for in a physical examination for development?

A

Dysmorphic features - macro/microcephaly (head circumference), birth marks
Growth
Neurological examination
Full examination
Be alert to signs of neglect - bruises/unkempt

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49
Q

What can cause developmental delay?

A 
Genetics
Factors in pregnancy
Factors around birth
Factors in childhood
Environmental factors
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50
Q

What genetic factors can cause developmental delay?

A 
Chromosomal disorders eg Down syndrome
Microdeletions
Microduplications
Single gene disorders eg Rett syndrome, Duchennes
Polygenic - autism, ADHD
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51
Q

What factors in pregnancy can lead to developmental delay?

A

Congenital infections eg CMV, HIV
Exposure to drugs and alcohol
MCA infarct - cerebral palsy

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52
Q

What factors around birth can lead to developmental delay?

A

Prematurity

Birth asphyxia

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53
Q

What factors in childhood can lead to developmental delay?

A

Infections eg meningitis, encephalitis
Chronic ill health
Metabolic conditions eg storage disorders
Acquired brain injury - accidental or non-accidental
Hearing impairment
Vision impairment

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54
Q

What environmental factors can lead to developmental delay?

A

Abuse and neglect

Low stimulation

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55
Q

What investigations might you do in someone with developmental delay?

A

Detailed Hx and thorough examination and developmental assessment -> developmental profile -> tailored investigations
For example…
- If boys not walking by 18 months check CK
- Focal neurological signs consider MRI brain
- Dysmorphic features, family history - genetic investigations
- Unwell child, FTT - metabolic investigations
- If featureless global developmental delay low yield but generally accepted to do CGH microarray

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56
Q

What is featureless global developmental impairment?

A

Global developmental impairment = delay in more than 2 domains

  • Mild if functional < 33% below chronological age eg 6.5 year old with functional age of 4
  • Moderate if functional age < 34%-66% chronological age eg 10 year old with functional age of 5
  • Severe if functional age < 66% chronological age eg 8 year old with functional age of 2.5 year old
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57
Q

What investigations can you do in someone with featureless global developmental delay?

A

Genetic microarray with fragile X in selected areas

Biochemical investigations - U&E, creatinine kinase, TFTs, FBC, ferritin, lead, basic metabolic screen

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58
Q

Why do we do investigations in featureless global developmental impairment?

A

In many children no cause
Not usually cure if do find cause
May find condition associated with physical health problems where surveillance indicated
Condition specific support groups for families
Parents tell us they like to have explanations
Diagnosis can help plans for future

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59
Q

What is disability?

A

Perception of who is disabled varies between individuals/carers/societies
Someone who has a physical or mental impairment that results in a marked, pervasive limitation of activity

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60
Q

What is an impairment?

A

An abnormality or loss of function

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61
Q

What are the different types of impairment?

A

Physical - cerebral palsy, acquired brain injury, neuromuscular disorders, MSK conditions
Sensory impairments - hearing and visual impairments
Learning - low IQ
Neurodevelopmental disorders - ADHD, autism
Emotional/behavioural - depression conduct disorder, attachment disorder D

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62
Q

How common is disability?

A

In UK 7.3% children experience disability
Impact of impairments changes over the ages
Varies between individuals and will change over an individuals life course
Child’s support needs to be responsive to this

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63
Q

What is the biopsychosocial model?

A

Model thinking about the different factors associated with disability

  • Biological - physical health, disability, genetic vulnerabilities, drug effects, temperament, IQ, mental health
  • Social - peers, family circumstances, school, drug effects, family relationships, trauma, mental health
  • Psychological - self-esteem, coping skills, social skills, family relationships, trauma, temperament, IQ, mental health
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64
Q

What determines disability?

A

Best considered using biopsychosocial model
2 people with same impairment may experience different levels of disability
Social background and environment along with impairment itself determine disability
A medical diagnosis doesn’t give information about a child’s level of functioning, activity, and their ability to participate
Level of care and social circumstances surrounding child can determine how well disability is coped with and how disabled the child is

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65
Q

How is disability assessed?

A

WHODAS

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66
Q

What is WHODAS?

A

Generic assessment for health and disability
Used across all diseases including mental, neurological, and addictive disorders
Short, simple and easy to administer 5-20 mins
Applicable both in clinical and general population settings
Tool produced standardised disability levels and profiles
Applicable across cultures in all adult populations
Directly linked at level
of concepts to in International classification of functioning, disability, and health

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67
Q

What are the 6 domains of functioning?

A

Cognition - understanding and communicating
Mobility - moving and getting around
Self-care - hygiene, dressing, eating, and staying alone
Social - interacting with other people
Life activities - domestic responsibilities, leisure, work, alcohol
Participation - joining in community activities

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68
Q

How are children with impairments supported?

A

Holisitc assessments
Address medical, social, environmental, and psychological factors for the best outcomes
Child focused
Involves work with MDT

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69
Q

What are the important factors to remember about disability?

A

Disabled children more likely to live in poverty
Parents more likely to be unemployed
Higher rates of mental health needs
Poorer physical health and lower life expectancy

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70
Q

What are the treatment goals with disability?

A

Quality of life - the degree to which a person enjoys the important possibilities of his/her life
Being - who one is
Belonging - how one fits into the environment
Becoming - how to have purposeful activities in order to achieve ones goals

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71
Q

How are the treatment goals for disability achieved?

A 
Listening
Medical support
Educational support
Social - financial support - disability living allowance
Emotional support
Voluntary sector
Co-ordination of support
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72
Q

How common is faltering growth?

A

Concerns about faltering growth arising in 5% infants and pre-school children
Concerns raised by primary care/parents/health visitors/GP

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73
Q

What is faltering growth?

A

Failure to gain adequate weight or achieve adequate growth during infancy or early childhood
Significant interruption in expected rate of growth compared with other children of a similar age and sex during early childhood
It’s a descriptive term and underlying cause needs to be considered

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74
Q

What are the thresholds for concern in faltering growth?

A

A fall across 1 or more weight centile spaces if birth weight < 9th centile
A fall across 2 or more weight centile spaces if birth weight between 9th and 91st centile
A fall across 3 or more weight centile spaces if birth weight was > 91st centile
When current weight < 2nd centile whatever birth weight

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75
Q

What are the first investigations in a child with suspected faltering growth?

A

Weight
Measure length from birth to 2 years old or height if > 2 years
Plot to measurements on growth chart to assess change and linear growth over time

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76
Q

How often do you monitor weight in those with faltering growth?

A 
Measure weight at appropriate intervals taking into account factors such as age and level of concern if concerns
Daily if < 1 month
Weekly between 1 to 6 months
Fortnightly between 6-12 months
Monthly from 1 year
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77
Q

What about weight loss is common in neonates?

A

Common for neonates to lose some weight during early days of life
Weight loss usually stops after 3-4 days of life
Most infants return to birth weight by 3 weeks

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78
Q

When should you be worried with neonates and weight loss in the first day of life and what should you do?

A

If infant loses more than 10% of birth weight
Perform clinical assessment
Detailed Hx to assess feeding
Consider direct observation of feeding
Perform further investigations only if indicated
Provide feeding support by person with relevant experience and training

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79
Q

How do you monitor length or height?

A

Obtain biological parents heights and work out mid-parental height centile
If more than 2 centile spaces below then could suggest undernutrition or primary growth disorder

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80
Q

If you have concerns about linear growth in a child > 2 what should you do?

A

Determine BMI centile

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81
Q

What relevance do BMI centiles have in terms of faltering growth?

A

BMI < 2nd centile - undernutrition or small build

BMI < 0.4th centile - probable undernutrition that needs assessment and intervention

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82
Q

When should you make allowances in terms of faltering growth?

A

Preterm birth
Neurodevelopmental concerns
Maternal postnatal depression/anxiety

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83
Q

What medical risk factors can cause faltering growth?

A 
Congenital abnormalities - cerebral palsy, autism, trisomy 21
Developmental delay
GOR
Low birth weight < 2,5000g
Poor oral health, dental caries
Prematurity < 37 wks
Tongue-tie (controversial)
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84
Q

What psychosocial risk factors can cause faltering growth?

A 
Disordered feeding techniques
Family stressors
Parental or family history of abuse/violence
Poor parenting skills
Postpartum depression
Poverty
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85
Q

What are the treatment options for faltering growth?

A

Hospital admission for nutritional rehabilitation
Parenteral nutrition and gut rest
Nutritional bloods
Enteral tube feeds - if serious concerns, other interventions tried w/o improvement, appropriate MDT assessment for possible causes and factors completed

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86
Q

What assessment can you do if you are worried about faltering growth?

A

Perform clinical, developmental, and social assessment
Take detailed feeding or eating history
Consider direct observation of feeding or meal times

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87
Q

When should you refer a child with faltering growth?

A

If S&S indicating an underlying disorder
Failure to respond to interventions delivered in primary care
Slow linear growth or unexplained short stature
Rapid weight loss or severe undernutrition
Features causing safeguarding concerns

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88
Q

What are the potential underlying causes of a dysmorphic appearance?

A

Genetic abnormality, undiagnosed syndrome

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89
Q

What are the potential underlying causes of oedema?

A

Renal, liver disease

90
Q

What are the potential underlying causes of hair colour/texture change?

A

Zinc deficiency

91
Q

What are the potential underlying causes of heart murmur?

A

Anatomical cardiac defect

92
Q

What are the potential underlying causes of hepatomegaly?

A

Infection, chronic illness, malnutriton

93
Q

What are the potential underlying causes of a mental status change?

A

Cerebral palsy, poor social bonding

94
Q

What are the potential underlying causes of poor parent-child interaction?

A

Depression

Social stress

95
Q

What are the potential underlying causes of rash, skin changes, or bruising?

A

HIV infection
CMA
Abuse

96
Q

What are the potential underlying causes of respiratory compromise?

A

Cystic fibrosis

97
Q

What are the potential underlying causes of wasting?

A

Cerebral palsy, cancer

98
Q

What are the 4 main areas relating to energy and faltering growth?

A

Not enough in
Not absorbed
Too much used up/increased metabolism
Abnormal central control of growth/appetite

99
Q

What can be a cause of not enough energy in?

A 
Ineffective suckling in breast fed/ineffective bottle feeding
Feeding patterns or routines being used
Feeding environment
Feeding aversion
Parent/carer-infant interactions
Physical disorders affecting feeding
GORD - common in first year of life
Feed refusal
ARFID
100
Q

What are the potential causes of energy not being absorbed?

A 
Anaemia (iron deficiency)
Biliary atresia
Coeliac - very common, 'coeliac iceberg'
Chronic GI condition - infections, IBS, IBD
CF
Inborn errors of metabolism
Milk protein allergy
Pancreatic cholestatic conditions
101
Q

What infections cause cause chronic upper GI conditions?

A

Enteroviruses - rotavirus, adenovirus, picornavirus
Bacterial - toxins (C difficile, staphylococcal), cholera, inflammatory (salmonella, campylobacter)
Parasitic - giardia, entamoeba
Other - TB

102
Q

What can cause too much used up/increased metabolism?

A 
Chronic infections (HIV, TB)
Chronic lung disease of prematurity
Congenital heart disease
Hyperthyroidism
Inflammatory conditions - asthma, IBD
Malignancy
Renal failure
103
Q

What are the initial interventions for a child with faltering growth?

A

Strategies to increase energy intake and advice on managing feeding and eating behaviour
Food diary

104
Q

When might you give enteral tube feeding?

A

If serious concerns about weight gain
Needs appropriate specialist MDT assessment for possibly causes of contributory factors has been completed
Other interventions need to have been tried without improvement
Need to have goals of treatment set - usually specific weight target
Need a strategy for withdrawal once goal is reach eg progressive reduction together with strategies to promote oral intake

105
Q

Who in the MDT is involved in faltering growth treatment?

A 
Infant feeding specialist
Consultant paed
Paediatric dietician
SLT with expertise in feeding and eating difficulties
Clinical psychologist
OT
106
Q

What are the challenges with management of faltering growth?

A

Complex and often multifactorial and specific underlying cause may not be identified
Children may also undergo excessively frequent monitoring or unnecessary investigations
Parents may feel blamed
Remain alert to safeguarding concern but sensitive to emotional impact

107
Q

What is ARFID?

A 
Significant weight loss or failure to meet expectant weight and height trajectories in children and adolescents
Nutritional deficiencies (such as iron deficiency anaemia)
Dependence on nutritional supplements to meet energy requirements without and underling condition necessitating this
Significant interference with day-today functioning due to inability to eat appropriately
Can present with sensory sensitivity, avoidance of certain foods and food altogether after choking or vomiting, restriction or avoidance of food due to low appetite or general disinterest in eating
108
Q

Why should we measure children?

A

Provides sensitive indication of health in childhood
Growth rates narrowly defined in healthy children with adequate nutrition and an emotionally supportive environment
Changes in growth rates can provide an early and sensitive pointer to health problems in children

109
Q

Name 3 important determinants of growth

A 
Parental phenotype and genotype
Quality and duration of pregnancy
Nutrition
Specific system and organ integrity
Psycho-social environment
Growth promoting hormones and factors
110
Q

What is it called when cartilage is formed?

A

Chondrogenesis

111
Q

Where do growth disorders originate from or affect?

A

The growth plate

112
Q

Name 2 things that regulate growth

A

Nutrition
Inflammatory cytokines
Endocrine signals
Extracellular fluid

113
Q

Why do we need to do multiple measurements for growth?

A

Dynamic process

Single measurements of limited value

114
Q

How do you assess growth?

A

Initial measurement - routine screening/on basis of concern
Recording
Interpretation
Action - if no concern continue routine check, if possible concern specific planning follow-up to aid evaluation, if great concern referral for fuller assessment

115
Q

What measurements should you do to assess growth?

A

Height/length
Sitting height
Body proportions
Head circumference

116
Q

What body proportions do newborns have?

A

Larger head, smaller mandible, short neck, rounded chest, prominent abdomen, short limbs

117
Q

What body proportions do adults have?

A

Relative growth of limbs compared to trunk

118
Q

How do you interpret head circumference?

A

Centile position
Adherence to or deviation from centile position with serial measurements
Relation to body size - degree of correlation with length/height and weight centile positions
Features of sutures and fontanelles and evidence of abnormal intracranial pressure
Familial factors

119
Q

Why might you get unreliable growth measurements?

A

Inaccuracy - faulty technique (measuring clothed), untrained staff, faulty equipment wrongly positions or calibrated
Uncooperative child
Different observers
Different times of day

120
Q

What is achondroplasia?

A

Dwarfism
Cartilage not proliferating properly
Large head, relatively short arms and legs

121
Q

What is hypochondroplasia?

A

Short limbs

122
Q

What do short back and long legs suggest?

A

Delayed puberty

123
Q

How do you diagnose achondroplasia?

A

Proportion of limbs to body

124
Q

How do you work out a boys predicted height?

A

Fathers height + (mothers height + 12.5cm)/2

(FH + MH)/2 + 7 range +/- 10cm

125
Q

How do you work out a girls predicted height?

A

Mothers height + (fathers height - 12.5cm)/2

(MH + FH)/2 + 7 range +/- 8cm

126
Q

What is another calculation you can use to work out a child’s height?

A

95% CI = mid-parental height +/- 8.5cm

Less concerning if parents also small

127
Q

What do you need to look at when measuring growth?

A

Rate of growth
Rhythm of growth
Height velocity

128
Q

How does growth and height velocity change over time?

A 
Fastest growth rate in utero and infancy
Gradually decreasing rate in puberty
Pubertal growth spurt
Growth ends with fusion of epiphyses (oestrogen effect)
Huge inter-individual variability
129
Q

What is Tanner stage 1 in body?

A

Prepubertal

  • No pubic hair
  • Testicular length < 2.5cm
  • Testicular volume < 3.0mL
130
Q

What is Tanner stage 2 in body?

A

Sparse growth of slightly curly pubic hair, mainly base of penis
Testes > 3mL (> 2.5cm in longest diameter)
Scrotum thinning and reddening

131
Q

What is Tanner stage 3 in body?

A

Thicker curlier hair spread more to pubis

Growth of penis in width and length, further growth of testes

132
Q

What is Tanner stage 4 in body?

A

Adult type hair, not yet spread to medial surface of thighs

Penis further enlarged, testes larger, darker scrotal skin colour

133
Q

What is Tanner stage 5 in body?

A

Adult type hair spread to medial surface of thighs

Genitalia adult size and shape

134
Q

What measures testicular volume in mL?

A

Orchidometer

135
Q

How common is Kleinefleter syndrome?

A

Affects approx 1 in 1000 males

136
Q

What is Kleinefleter syndrome and what are the features of it?

A 
47XXY
Primary hypogonadism (hypergonadotrophic hypogonadism)
Azoospermia, gynaecomastia
Reduced secondary sexual hair
Testes < 5mL
Osteoporosis
Tall stature
Reduced IQ in 40%
20-fold increased risk of breast cancer
137
Q

Which is more concerning with late puberty - boys or girls?

A

Boys

138
Q

What is hypogonadotrophic hypogonadism?

A

Secondary/tertiary hypogonadism

139
Q

What can cause hypogonadotrophic hypogonadism?

A 
CNS disorders
Inherited conditions
Idiopathic
Genetic forms of multiple pituitary hormone deficiencies
Others
140
Q

What is the average difference in height between boys and girls?

A

12.5cm

141
Q

Which sex has a smaller growth spurt during puberty?

A

Girls

142
Q

What CNS disorder can cause hypogonadotrophic hypogonadism?

A 
Tumours - craniophyngiomas, germinomas, other germ cell tumours, hypothalamic and optic gliomas, astrocytomas, pituitary tumours
Langerhan's histiocytosis
Post-infectious lesions of CNS
Vascular abnormalities
Radiation therapy
Congenital malformations especially associated with craniofacial abnormalities
Head trauma
Lymphocyte hypophyitis
143
Q

What is the most likely cause of penile growth with pubic hair and small testes?

A

Androgen excess of adrenal origin

144
Q

What is the most likely cause of large testes and no pubic hair?

A

True precocious puberty

145
Q

What size testes are pre-pubertal?

A

1-3mL

146
Q

What inherited causes can cause hypogonadotrophic hypogonadism?

A 
Kallmann's syndrome
LMRH receptor mutation
Congenital adrenal hypoplasia
Isolated LH/FSH deficiency
Prohormone convertase 1 deficiency
147
Q

What other disorders can cause hypogonadotrophic hypogonadism?

A 
Prader-Willi
Laurence-Moon and Bardet-Biedl syndromes
Functional gonadotrophin deficiency
Chronic systemic disease and malnutriton
Sickle cell disease
CF
AIDS
EDs
Psychogenic amenorrhoea
Impaired puberty and delayed menarche in female athletes and ballet dancers
Hypothyroidism
DM
Cushing's
Hyperprolactinaemia
Marijuana use
Gaucher's disease
148
Q

What is Tanner stage 1 in girls?

A

Prepubertal

  • No pubic hair
  • Elevation of papilla only
149
Q

What is Tanner stage 2 in girls?

A

Sparse growth of long, straight or slightly curly, minimally pigmented hair mainly on labia
Breast bud noted/palpable, enlargement of areola

150
Q

What is Tanner stage 3 in girls?

A

Darker, coarser hair spreading over mons pubis

Further enlargement of breast and areola, with no separation of contours

151
Q

What is Tanner stage 4 in girls?

A

Thick adult type hair, not yet spread to medial surface of thighs
Projection of areola and papilla to form secondary mount above level of breast

152
Q

What is Tanner stage 5 in girls?

A

Hair adult-type and distributed in classic inverse triangle

Adult contour breast with projection of papilla only

153
Q

What is Turner’s syndrome?

A

45 X0

154
Q

What are the features of Turner’s syndrome?

A

At birth - oedema of dorsa of hands, feet, and loose skinfolds at nape of neck
Webbing of neck, low posterior hairline, small mandible, prominent ears, epicanthal folds, high arched palate, broad chest, cubitus valgus, hyperconvex fingernails
Hypergonadotrophic hypogonadism, streak gonads
CVS malformations
Renal malformation - horseshoe kidney
Recurrent otitis media
Short stature

155
Q

What can cause hypergonadotrophic hypogonadism in males?

A 
Klinefelter's
Other forms of primary testicular failure
Chemotherapy
Radiation therapy
Testicular steroid biosynthesis defects
Sertoli-only syndrome
LH receptor mutation
Anorchia and cryptochidism
Trauma
Surgery
156
Q

What can cause hypergonadotrophic hypogonadism in females?

A 
Turner's syndrome and variants
XX and XY gonadal dysgenesis
Familial and sporadic XX gonadal dysgenesis and its variants
Familial and sporadic XY gonadal dysgenesis and its variants
Aromatase deficiency
Other forms of primary ovarian failure
Premature menopause
Radiation/chemotherapy
Autoimmune oophoritis
Galactosemia
Glycoprotein syndrome type 1
Resistant ovary
FSH receptor mutation
LH/hCG resistance
Polycystic ovary disease
Trauma/surgery
Noonan's or pseudo-Turner's syndrome
Ovarian steroid biosynthesis defects
157
Q

What should you rule out in girls with short stature?

A

Turner’s syndrome

158
Q

What is the first sign of puberty in girls?

A

Breast buds

159
Q

What is the first sign of puberty in boys?

A

Testicular enlargement

160
Q

What age is considered pubertal delay in girls?

A

> 13

161
Q

What age is considered pubertal delay in boys?

A

> 14

162
Q

Is delayed puberty more likely related to an underlying cause in boys or girls?

A

Girls

163
Q

What age is considered early puberty in girls?

A

< 8

164
Q

What age is considered early puberty in boys?

A

< 9

165
Q

Is early puberty more likely to have an underlying cause in boys or in girls?

A

Boys

166
Q

What is the relationship between growth and pubertal changes?

A

Growth spurt happens during peak of puberty

167
Q

How common is true precocious puberty?

A

Incidence 1 in 5000 to 10,000

90% female

168
Q

How common is idiopathic CPP?

A

Up to 80% female

Only 30% males

169
Q

What happens in true precocious puberty?

A

GnRH activation - activation of HPG axis

170
Q

What should you worry about with a boy in true precocious puberty?

A

Hypothalamic/pituitary tumour

171
Q

How do you differentiate between true precocious puberty and precocious pseudopuberty?

A

Bloods before and after GnRH injection
True - stimulation pubertal range, stimulated LH:FSH > 1
Pseudo - stimulation pre-pubertal range or suppression, stimulated LH:FSH < 1

172
Q

What is precocious pseudo puberty?

A

Secondary sexual characteristic development without activation of HPG axis

173
Q

What can cause precocious pseudopuberty?

A

Secreting tumours of gonads, brain, liver, retroperitoneum, mediastinum
Often produce hCG

174
Q

What problems might a paediatric endocrinologist see?

A

Poor growth - failure to thrive
Psychosocial deprivation
Stretch marks and overweight

175
Q

What can skeletal maturity show you?

A

L hand XR
Bone age
Delayed bone age in GH deficiency
Advanced bone age in precocious puberty

176
Q

What factors can affect birth weight?

A 
Maternal size and weight
Parity
Gestation diabetes
Smoking
Paternal size
177
Q

What happens with growth after birth?

A

Often only weight measured
1/3 show catch-up growth
1/3 maintain birth weight centile
1/3 show catch down growth

178
Q

What is commonly associated with poor growth and what should you ask in a poor growth history?

A 
Vomiting
Dysmorphic features
Diarrhoea
Poor social circumstances
Actual weight loss
Weight > 2 major centiles below height
179
Q

What are most endocrine problems associated with?

A

Overweight

180
Q

What are some common causes of short stature?

A 
Constitutional, slow maturation (genetic), delayed puberty
Idiopathic
Environmental/psychosocial
Nutrition - pre/post-natal
Physical disease
Skeletal disease
Turner's syndrome
Endocrine
Chronic diseases
181
Q

What do children with environmental problems often look like?

A 
Usually > 3
Emotional rejection key factor
Physical/sexual abuse
50% reversible GH deficiency
Poor response to GH treatment
182
Q

What chronic diseases can cause short stature?

A 
GI - coeliac, IBD
CVS - congenital health disease
Renal disease
Haematologic - chronic severe anaemia
Pulmonary - CF, bronchopulmonary dysplasia
Chronic inflammation and infection
183
Q

What can cause overgrowth with impaired final height?

A

Precocious puberty
Congenital adrenal hyperplasia
McAlbright syndrome
Hyperthyroidism

184
Q

What can cause overgrowth with increased final height?

A

Androgen/oestrogen deficiency/resistance
GH excess (v rare)
Klinefelter’s
Marfan’s

185
Q

What does someone with nutritional obesity look like?

A

Tall and fat

186
Q

What does someone with endocrine obesity look like?

A

Short and fat

187
Q

What do we worry about - high levels of unconjugated or conjugated bilirubin and why?

A

Unconjugated bilirubin

Cannot attach to albumin and so can cross BBB and can be deposited in basal ganglia causing motor defects

188
Q

What do we worry about with high levels of conjugated bilirubin?

A

Biliary atresia

189
Q

What is the condition called where you get deposition of unconjugated bilirubin in the basal ganglia?

A

Kernicterus

190
Q

What are the symptoms of kernicterus?

A 
Poor feeding
Irritability
High-pitched cry
Lethargy
Apnoeas
Floppy
191
Q

Is kernicterus reversible?

A

No

192
Q

What are the risk factors for sepsis in neonates?

A 
Prolonged rupture of membranes
Maternal temps during labour or overt infection
Any signs of chorioamnionitis
Baby clinically unwell
Maternal positive for GBS
Foetal distress
Preterm delivery
History of previous GBS infection in pregnancy
193
Q

What do we count as prolonged rupture of membranes in term babies?

A

> 24 hours

194
Q

What do we count as prolonged rupture of membranes in preterm babies?

A

> 18 hours

195
Q

What symptoms suggest sepsis in a neonate?

A 
Pallor, lethargy, jaundice
Fever, hypothermia, temperature instability
Poor tolerance of handling
Hypo/hyperglycaemia
Blood gas derangements
Increased RR
Apnoea
Grunting
Cyanosis
Tachycardia
Brady episodes
Poor perfusion
Hypotension
Petechiae
Bruising
Bleeding from puncture sites
Poor feeding
Vomiting
Abdominal distension
Feed intolerance
Bilious aspirates/vomits
Loose stools
Lethargy
Irritability
Seizures
196
Q

What investigations should you do for neonatal sepsis?

A 
Blood gases
Serum electrolytes
True blood glucose
CRP
WCC as part of FBC
Blood cultures
LP if CRP > 40
197
Q

How do you treat early-onset sepsis in a newborn?

A

Ben pen and gentamicin IV
Ben pen 60mg/kg 12hly
Gent 5mg/kg

198
Q

How is meningitis treated?

A

Cefotaxime and amoxicillin

199
Q

How do you treat late onset sepsis in a newborn?

A

Depends on organism

200
Q

What is a chronic illness?

A

Long term condition, that is present for, or is expected to last a lengthy duration
Disabilities
Life-threathening

201
Q

Name 3 types of chronic illness

A 
Asthma
Allergies
Cancer
CF
Diabetes
Epilepsy
IBD
JIA
202
Q

Name a lifelong chronic illness

A

Deafness

203
Q

Name a relapsing remitting chronic illness

A

Asthma

204
Q

Name a progressive chronic illness

A

JIA

205
Q

Name a slowly deteriorating chronic illness

A

Muscular dystrophy

206
Q

Name a potentially curable chronic illness

A

Cancer

207
Q

Name a variable course chronic illness

A

CF

208
Q

How can you classify the causes of faltering growth?

A

Prenatal

Post-natal

209
Q

What are the potential causes of faltering growth in prenatal period?

A 
Prematurity with complications
Maternal malnutrition
Toxic exposure in utero - alcohol, smoking, medications, infections
Intrauterine growth restriction
Chromosomal abnormalities
210
Q

How can you classify post-natal causes of faltering growth?

A 
Lack of adequate nutrition
Physical problems with feeding
Poor absorption of nutrients
Increased metabolic demand
Functional causes
211
Q

Name 3 causes of lack of adequate nutrition

A

Lack of appetite - iron deficiency anaemia, CNS pathology, chronic infection
Inability to suck/swallow - CNS/muscular disorders
Vomiting - CNS/metabolic disease, obstruction, renal disorders
GORD and oesophagitis

212
Q

Name 3 causes of physical problems with feeding

A

Cleft palate
Hypotonia
Micrognathia
Prader-Willi syndrome

213
Q

Name 3 causes of absorption of nutrients

A

GI disorders - CF, coeliac, chronic diarrhoea
CKD or renal tubular acidosis
Endocrine abnormalities - hypothyroidism, DM, hypopituitarism
Inborn errors of metabolism
Chronic infection - congenital HIV, TB, parasites

214
Q

Name 3 causes of increased metabolic demand

A

Hyperthyroidism
Chronic heart/respiratory disease - heart failure, asthma, bronchopulmonary dysplasia
CKD
Malignancy

215
Q

Name 3 causes of functional causes

A 
Feeding difficulties
Lack of preparation for parenting
Family dysfunction
Difficult child
Neglect
Emotional deprivation syndrome
Fabricated or induced illness by carers
216
Q

What is worrying about a child who was growing normally and then stops growing normally?

A

Something more insidious causing it

217
Q

What investigations would you do for a child with faltering growth?

A 
FBC
Urinalysis
Urine culture
U&E, creatinine
LFTs - protein and albumin
Coeliac screen
TFTs
Stool sample
- Reducing substances
- pH
- Occult blood
- Ova and parasites
Blood gas
Bone profile
Coeliac screen
Immunoglobulins
Sweat test
Infections - TB, HIV
218
Q

What do prolonged primitive reflexes mean?

A

Sign of CNS dysfunction
First part of brain to develop and should only remain active for the first few months of life
Replaced by postural reflexes
Leads to developmental delays related to disorders like ADHD, sensory processing disorder, autism, and learning difficulties

219
Q

What issues does prolonged primitive reflexes relate to?

A

Co-ordination, balance, sensory perception, fine motor skills, sleep, immunity, energy levels, impulse control, concentration, all levels of social, emotional and academic learning

220
Q

What are the causes of prolonged primitive reflexes?

A 
Traumatic birth experience of c-section
Falls
Trauma
Head trauma
Vertebral subluxations
Lack of tummy time
Delayed or skipped creeping and crawling
Chronic ear infections

Paediatrics (21 decks)

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