Development and growth in childhood Flashcards
(220 cards)
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
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
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
4
Q
What should a newborn be able to do in terms of gross motor?
A
Flexed arms and legs, equal movements
5
Q
What should a 3 month year old do in terms of gross motor development?
A
Lift head on tummy
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
7
Q
What should a 9 month year old do in terms of gross motor development?
A
Pulls to stand up
8
Q
What should a 1 year old do in terms of gross motor development?
A
Walk
9
Q
What should a 2 year old do in terms of gross motor development?
A
Walk up stairs
10
Q
What should a 3 year old do in terms of gross motor development?
A
Jump with both feet off floor
11
Q
What should a 4 year old do in terms of gross motor development?
A
Hop
12
Q
What should a 5 year old do in terms of gross motor development?
A
Ride a bike
13
Q
What should a 4 month old do in terms of fine motor and vision development?
A
Grab an object
Use both hands
14
Q
What should a 8 month old do in terms of fine motor and vision development?
A
Take a cube in each hand
15
Q
What should a 12 month old do in terms of fine motor and vision development?
A
Scribble with crayon
16
Q
What should a 18 month old do in terms of fine motor and vision development?
A
Build tower of 2 cubes
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)
18
Q
What should a 3 month old be able to do in terms of speech, language and hearing development?
A
Laugh and squeal
19
Q
What should a 9 month old be able to do in terms of speech, language and hearing development?
A
Dada/mama
20
Q
What should a 12 month old be able to do in terms of speech, language and hearing development?
A
1 word
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
22
Q
What should a 3 year old be able to do in terms of speech, language and hearing development?
A
Speech mainly understandable
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
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
25
What should a 6 week old baby be able to do in terms of social/self-care development?
Smile spontaneously
26
What should a 6 month old be able to do in terms of social/self care development?
Finger feed
27
What should a 9 month old be able to do in terms of social/self care development?
Wave bye-bye
28
What should a 12 month old be able to do in terms of social/self care development?
Use spoon/fork
29
What should a 2 year old be able to do in terms of social/self care development?
Take some clothes off
| Feed a doll
30
What should a 3 year old be able to do in terms of social/self care development?
Play with others
Name a friend
Put on a t-shirt
31
What should a 4 year old be able to do in terms of social/self care development?
Dress with no help
| Play a board game
32
What are normal variants in gross motor development?
Bum shuffling
Commando crawling
Often run in families
33
What are the aims of healthy child programme?
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
34
What happens in the healthy child programme and when?
```
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
```
35
What happens a visits in the healthy child programme?
Growth and development checks
Discussion of parental concerns
At risk families identified
36
Why are the health visitor assessments in the healthy child programme?
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
37
What is concerning in gross motor development?
Not sitting by 1
| Not walking at 18 months - especially in boys ?muscular dystrophy
38
What is concerning in fine motor development?
Hand preference by 18 months - ?cerebral palsy/other neurological problem
39
What is concerning for speech and language development?
Not smiling by 3 months
| No clear words by 18 months - ?hearing problems, ?learning disability, ?isolated speech and language problem
40
What is concerning for social development?
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
41
What are red flags in a child's development?
```
Regression
Poor health/growth
Significant family history
Findings on examination eg microcephaly, dysmorphic features
Safeguarding indicators
```
42
What are the main questions to answer in a developmental assessment?
What is the developmental concern? Disordered or delayed?
Cause?
Support for child to reach developmental potential?
43
What does a developmental assessment do?
Compares a child's abilities to age expectations
44
What is important to remember with child development?
Spectrum of normal
45
What screening tools may be used?
Schedule of growing skills, griffiths, Bailey's
46
What is a developmental profile?
Build up a picture of childs skills and deficits
| Developmental profile will give clues to diagnosis and tell you where support required
47
What questions should you ask in a detailed clinical history for development?
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
48
What should you look for in a physical examination for development?
Dysmorphic features - macro/microcephaly (head circumference), birth marks
Growth
Neurological examination
Full examination
Be alert to signs of neglect - bruises/unkempt
49
What can cause developmental delay?
```
Genetics
Factors in pregnancy
Factors around birth
Factors in childhood
Environmental factors
```
50
What genetic factors can cause developmental delay?
```
Chromosomal disorders eg Down syndrome
Microdeletions
Microduplications
Single gene disorders eg Rett syndrome, Duchennes
Polygenic - autism, ADHD
```
51
What factors in pregnancy can lead to developmental delay?
Congenital infections eg CMV, HIV
Exposure to drugs and alcohol
MCA infarct - cerebral palsy
52
What factors around birth can lead to developmental delay?
Prematurity
| Birth asphyxia
53
What factors in childhood can lead to developmental delay?
Infections eg meningitis, encephalitis
Chronic ill health
Metabolic conditions eg storage disorders
Acquired brain injury - accidental or non-accidental
Hearing impairment
Vision impairment
54
What environmental factors can lead to developmental delay?
Abuse and neglect
| Low stimulation
55
What investigations might you do in someone with developmental delay?
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
56
What is featureless global developmental impairment?
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
57
What investigations can you do in someone with featureless global developmental delay?
Genetic microarray with fragile X in selected areas
| Biochemical investigations - U&E, creatinine kinase, TFTs, FBC, ferritin, lead, basic metabolic screen
58
Why do we do investigations in featureless global developmental impairment?
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
59
What is disability?
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
60
What is an impairment?
An abnormality or loss of function
61
What are the different types of impairment?
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
62
How common is disability?
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
63
What is the biopsychosocial model?
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
64
What determines disability?
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
65
How is disability assessed?
WHODAS
66
What is WHODAS?
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
67
What are the 6 domains of functioning?
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
68
How are children with impairments supported?
Holisitc assessments
Address medical, social, environmental, and psychological factors for the best outcomes
Child focused
Involves work with MDT
69
What are the important factors to remember about disability?
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
70
What are the treatment goals with disability?
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
71
How are the treatment goals for disability achieved?
```
Listening
Medical support
Educational support
Social - financial support - disability living allowance
Emotional support
Voluntary sector
Co-ordination of support
```
72
How common is faltering growth?
Concerns about faltering growth arising in 5% infants and pre-school children
Concerns raised by primary care/parents/health visitors/GP
73
What is faltering growth?
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
74
What are the thresholds for concern in faltering growth?
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
75
What are the first investigations in a child with suspected faltering growth?
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
76
How often do you monitor weight in those with faltering growth?
```
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
```
77
What about weight loss is common in neonates?
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
78
When should you be worried with neonates and weight loss in the first day of life and what should you do?
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
79
How do you monitor length or height?
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
80
If you have concerns about linear growth in a child > 2 what should you do?
Determine BMI centile
81
What relevance do BMI centiles have in terms of faltering growth?
BMI < 2nd centile - undernutrition or small build
| BMI < 0.4th centile - probable undernutrition that needs assessment and intervention
82
When should you make allowances in terms of faltering growth?
Preterm birth
Neurodevelopmental concerns
Maternal postnatal depression/anxiety
83
What medical risk factors can cause faltering growth?
```
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)
```
84
What psychosocial risk factors can cause faltering growth?
```
Disordered feeding techniques
Family stressors
Parental or family history of abuse/violence
Poor parenting skills
Postpartum depression
Poverty
```
85
What are the treatment options for faltering growth?
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
86
What assessment can you do if you are worried about faltering growth?
Perform clinical, developmental, and social assessment
Take detailed feeding or eating history
Consider direct observation of feeding or meal times
87
When should you refer a child with faltering growth?
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
88
What are the potential underlying causes of a dysmorphic appearance?
Genetic abnormality, undiagnosed syndrome
89
What are the potential underlying causes of oedema?
Renal, liver disease
90
What are the potential underlying causes of hair colour/texture change?
Zinc deficiency
91
What are the potential underlying causes of heart murmur?
Anatomical cardiac defect
92
What are the potential underlying causes of hepatomegaly?
Infection, chronic illness, malnutriton
93
What are the potential underlying causes of a mental status change?
Cerebral palsy, poor social bonding
94
What are the potential underlying causes of poor parent-child interaction?
Depression
| Social stress
95
What are the potential underlying causes of rash, skin changes, or bruising?
HIV infection
CMA
Abuse
96
What are the potential underlying causes of respiratory compromise?
Cystic fibrosis
97
What are the potential underlying causes of wasting?
Cerebral palsy, cancer
98
What are the 4 main areas relating to energy and faltering growth?
Not enough in
Not absorbed
Too much used up/increased metabolism
Abnormal central control of growth/appetite
99
What can be a cause of not enough energy in?
```
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
What are the potential causes of energy not being absorbed?
```
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
What infections cause cause chronic upper GI conditions?
Enteroviruses - rotavirus, adenovirus, picornavirus
Bacterial - toxins (C difficile, staphylococcal), cholera, inflammatory (salmonella, campylobacter)
Parasitic - giardia, entamoeba
Other - TB
102
What can cause too much used up/increased metabolism?
```
Chronic infections (HIV, TB)
Chronic lung disease of prematurity
Congenital heart disease
Hyperthyroidism
Inflammatory conditions - asthma, IBD
Malignancy
Renal failure
```
103
What are the initial interventions for a child with faltering growth?
Strategies to increase energy intake and advice on managing feeding and eating behaviour
Food diary
104
When might you give enteral tube feeding?
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
Who in the MDT is involved in faltering growth treatment?
```
Infant feeding specialist
Consultant paed
Paediatric dietician
SLT with expertise in feeding and eating difficulties
Clinical psychologist
OT
```
106
What are the challenges with management of faltering growth?
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
What is ARFID?
```
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
Why should we measure children?
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
Name 3 important determinants of growth
```
Parental phenotype and genotype
Quality and duration of pregnancy
Nutrition
Specific system and organ integrity
Psycho-social environment
Growth promoting hormones and factors
```
110
What is it called when cartilage is formed?
Chondrogenesis
111
Where do growth disorders originate from or affect?
The growth plate
112
Name 2 things that regulate growth
Nutrition
Inflammatory cytokines
Endocrine signals
Extracellular fluid
113
Why do we need to do multiple measurements for growth?
Dynamic process
| Single measurements of limited value
114
How do you assess growth?
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
What measurements should you do to assess growth?
Height/length
Sitting height
Body proportions
Head circumference
116
What body proportions do newborns have?
Larger head, smaller mandible, short neck, rounded chest, prominent abdomen, short limbs
117
What body proportions do adults have?
Relative growth of limbs compared to trunk
118
How do you interpret head circumference?
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
Why might you get unreliable growth measurements?
Inaccuracy - faulty technique (measuring clothed), untrained staff, faulty equipment wrongly positions or calibrated
Uncooperative child
Different observers
Different times of day
120
What is achondroplasia?
Dwarfism
Cartilage not proliferating properly
Large head, relatively short arms and legs
121
What is hypochondroplasia?
Short limbs
122
What do short back and long legs suggest?
Delayed puberty
123
How do you diagnose achondroplasia?
Proportion of limbs to body
124
How do you work out a boys predicted height?
Fathers height + (mothers height + 12.5cm)/2
| (FH + MH)/2 + 7 range +/- 10cm
125
How do you work out a girls predicted height?
Mothers height + (fathers height - 12.5cm)/2
| (MH + FH)/2 + 7 range +/- 8cm
126
What is another calculation you can use to work out a child's height?
95% CI = mid-parental height +/- 8.5cm
| Less concerning if parents also small
127
What do you need to look at when measuring growth?
Rate of growth
Rhythm of growth
Height velocity
128
How does growth and height velocity change over time?
```
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
What is Tanner stage 1 in body?
Prepubertal
- No pubic hair
- Testicular length < 2.5cm
- Testicular volume < 3.0mL
130
What is Tanner stage 2 in body?
Sparse growth of slightly curly pubic hair, mainly base of penis
Testes > 3mL (> 2.5cm in longest diameter)
Scrotum thinning and reddening
131
What is Tanner stage 3 in body?
Thicker curlier hair spread more to pubis
| Growth of penis in width and length, further growth of testes
132
What is Tanner stage 4 in body?
Adult type hair, not yet spread to medial surface of thighs
| Penis further enlarged, testes larger, darker scrotal skin colour
133
What is Tanner stage 5 in body?
Adult type hair spread to medial surface of thighs
| Genitalia adult size and shape
134
What measures testicular volume in mL?
Orchidometer
135
How common is Kleinefleter syndrome?
Affects approx 1 in 1000 males
136
What is Kleinefleter syndrome and what are the features of it?
```
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
Which is more concerning with late puberty - boys or girls?
Boys
138
What is hypogonadotrophic hypogonadism?
Secondary/tertiary hypogonadism
139
What can cause hypogonadotrophic hypogonadism?
```
CNS disorders
Inherited conditions
Idiopathic
Genetic forms of multiple pituitary hormone deficiencies
Others
```
140
What is the average difference in height between boys and girls?
12.5cm
141
Which sex has a smaller growth spurt during puberty?
Girls
142
What CNS disorder can cause hypogonadotrophic hypogonadism?
```
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
What is the most likely cause of penile growth with pubic hair and small testes?
Androgen excess of adrenal origin
144
What is the most likely cause of large testes and no pubic hair?
True precocious puberty
145
What size testes are pre-pubertal?
1-3mL
146
What inherited causes can cause hypogonadotrophic hypogonadism?
```
Kallmann's syndrome
LMRH receptor mutation
Congenital adrenal hypoplasia
Isolated LH/FSH deficiency
Prohormone convertase 1 deficiency
```
147
What other disorders can cause hypogonadotrophic hypogonadism?
```
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
What is Tanner stage 1 in girls?
Prepubertal
- No pubic hair
- Elevation of papilla only
149
What is Tanner stage 2 in girls?
Sparse growth of long, straight or slightly curly, minimally pigmented hair mainly on labia
Breast bud noted/palpable, enlargement of areola
150
What is Tanner stage 3 in girls?
Darker, coarser hair spreading over mons pubis
| Further enlargement of breast and areola, with no separation of contours
151
What is Tanner stage 4 in girls?
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
What is Tanner stage 5 in girls?
Hair adult-type and distributed in classic inverse triangle
| Adult contour breast with projection of papilla only
153
What is Turner's syndrome?
45 X0
154
What are the features of Turner's syndrome?
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
What can cause hypergonadotrophic hypogonadism in males?
```
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
What can cause hypergonadotrophic hypogonadism in females?
```
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
What should you rule out in girls with short stature?
Turner's syndrome
158
What is the first sign of puberty in girls?
Breast buds
159
What is the first sign of puberty in boys?
Testicular enlargement
160
What age is considered pubertal delay in girls?
> 13
161
What age is considered pubertal delay in boys?
> 14
162
Is delayed puberty more likely related to an underlying cause in boys or girls?
Girls
163
What age is considered early puberty in girls?
< 8
164
What age is considered early puberty in boys?
< 9
165
Is early puberty more likely to have an underlying cause in boys or in girls?
Boys
166
What is the relationship between growth and pubertal changes?
Growth spurt happens during peak of puberty
167
How common is true precocious puberty?
Incidence 1 in 5000 to 10,000
| 90% female
168
How common is idiopathic CPP?
Up to 80% female
| Only 30% males
169
What happens in true precocious puberty?
GnRH activation - activation of HPG axis
170
What should you worry about with a boy in true precocious puberty?
Hypothalamic/pituitary tumour
171
How do you differentiate between true precocious puberty and precocious pseudopuberty?
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
What is precocious pseudo puberty?
Secondary sexual characteristic development without activation of HPG axis
173
What can cause precocious pseudopuberty?
Secreting tumours of gonads, brain, liver, retroperitoneum, mediastinum
Often produce hCG
174
What problems might a paediatric endocrinologist see?
Poor growth - failure to thrive
Psychosocial deprivation
Stretch marks and overweight
175
What can skeletal maturity show you?
L hand XR
Bone age
Delayed bone age in GH deficiency
Advanced bone age in precocious puberty
176
What factors can affect birth weight?
```
Maternal size and weight
Parity
Gestation diabetes
Smoking
Paternal size
```
177
What happens with growth after birth?
Often only weight measured
1/3 show catch-up growth
1/3 maintain birth weight centile
1/3 show catch down growth
178
What is commonly associated with poor growth and what should you ask in a poor growth history?
```
Vomiting
Dysmorphic features
Diarrhoea
Poor social circumstances
Actual weight loss
Weight > 2 major centiles below height
```
179
What are most endocrine problems associated with?
Overweight
180
What are some common causes of short stature?
```
Constitutional, slow maturation (genetic), delayed puberty
Idiopathic
Environmental/psychosocial
Nutrition - pre/post-natal
Physical disease
Skeletal disease
Turner's syndrome
Endocrine
Chronic diseases
```
181
What do children with environmental problems often look like?
```
Usually > 3
Emotional rejection key factor
Physical/sexual abuse
50% reversible GH deficiency
Poor response to GH treatment
```
182
What chronic diseases can cause short stature?
```
GI - coeliac, IBD
CVS - congenital health disease
Renal disease
Haematologic - chronic severe anaemia
Pulmonary - CF, bronchopulmonary dysplasia
Chronic inflammation and infection
```
183
What can cause overgrowth with impaired final height?
Precocious puberty
Congenital adrenal hyperplasia
McAlbright syndrome
Hyperthyroidism
184
What can cause overgrowth with increased final height?
Androgen/oestrogen deficiency/resistance
GH excess (v rare)
Klinefelter's
Marfan's
185
What does someone with nutritional obesity look like?
Tall and fat
186
What does someone with endocrine obesity look like?
Short and fat
187
What do we worry about - high levels of unconjugated or conjugated bilirubin and why?
Unconjugated bilirubin
| Cannot attach to albumin and so can cross BBB and can be deposited in basal ganglia causing motor defects
188
What do we worry about with high levels of conjugated bilirubin?
Biliary atresia
189
What is the condition called where you get deposition of unconjugated bilirubin in the basal ganglia?
Kernicterus
190
What are the symptoms of kernicterus?
```
Poor feeding
Irritability
High-pitched cry
Lethargy
Apnoeas
Floppy
```
191
Is kernicterus reversible?
No
192
What are the risk factors for sepsis in neonates?
```
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
What do we count as prolonged rupture of membranes in term babies?
> 24 hours
194
What do we count as prolonged rupture of membranes in preterm babies?
> 18 hours
195
What symptoms suggest sepsis in a neonate?
```
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
What investigations should you do for neonatal sepsis?
```
Blood gases
Serum electrolytes
True blood glucose
CRP
WCC as part of FBC
Blood cultures
LP if CRP > 40
```
197
How do you treat early-onset sepsis in a newborn?
Ben pen and gentamicin IV
Ben pen 60mg/kg 12hly
Gent 5mg/kg
198
How is meningitis treated?
Cefotaxime and amoxicillin
199
How do you treat late onset sepsis in a newborn?
Depends on organism
200
What is a chronic illness?
Long term condition, that is present for, or is expected to last a lengthy duration
Disabilities
Life-threathening
201
Name 3 types of chronic illness
```
Asthma
Allergies
Cancer
CF
Diabetes
Epilepsy
IBD
JIA
```
202
Name a lifelong chronic illness
Deafness
203
Name a relapsing remitting chronic illness
Asthma
204
Name a progressive chronic illness
JIA
205
Name a slowly deteriorating chronic illness
Muscular dystrophy
206
Name a potentially curable chronic illness
Cancer
207
Name a variable course chronic illness
CF
208
How can you classify the causes of faltering growth?
Prenatal
| Post-natal
209
What are the potential causes of faltering growth in prenatal period?
```
Prematurity with complications
Maternal malnutrition
Toxic exposure in utero - alcohol, smoking, medications, infections
Intrauterine growth restriction
Chromosomal abnormalities
```
210
How can you classify post-natal causes of faltering growth?
```
Lack of adequate nutrition
Physical problems with feeding
Poor absorption of nutrients
Increased metabolic demand
Functional causes
```
211
Name 3 causes of lack of adequate nutrition
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
Name 3 causes of physical problems with feeding
Cleft palate
Hypotonia
Micrognathia
Prader-Willi syndrome
213
Name 3 causes of absorption of nutrients
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
Name 3 causes of increased metabolic demand
Hyperthyroidism
Chronic heart/respiratory disease - heart failure, asthma, bronchopulmonary dysplasia
CKD
Malignancy
215
Name 3 causes of functional causes
```
Feeding difficulties
Lack of preparation for parenting
Family dysfunction
Difficult child
Neglect
Emotional deprivation syndrome
Fabricated or induced illness by carers
```
216
What is worrying about a child who was growing normally and then stops growing normally?
Something more insidious causing it
217
What investigations would you do for a child with faltering growth?
```
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
What do prolonged primitive reflexes mean?
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
What issues does prolonged primitive reflexes relate to?
Co-ordination, balance, sensory perception, fine motor skills, sleep, immunity, energy levels, impulse control, concentration, all levels of social, emotional and academic learning
220
What are the causes of prolonged primitive reflexes?
```
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
```
