Development and growth in childhood Flashcards
What is development?
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
What can influence a child’s development?
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
What are the normal child development domains assess for 0-5 year olds?
Gross motor
Fine motor and vision
Speech, language, and hearing
Social interaction and self care skills
What should a newborn be able to do in terms of gross motor?
Flexed arms and legs, equal movements
What should a 3 month year old do in terms of gross motor development?
Lift head on tummy
What should a 6 month year old do in terms of gross motor development?
Lift chest up with arm support
Roll
Sit unsupported
What should a 9 month year old do in terms of gross motor development?
Pulls to stand up
What should a 1 year old do in terms of gross motor development?
Walk
What should a 2 year old do in terms of gross motor development?
Walk up stairs
What should a 3 year old do in terms of gross motor development?
Jump with both feet off floor
What should a 4 year old do in terms of gross motor development?
Hop
What should a 5 year old do in terms of gross motor development?
Ride a bike
What should a 4 month old do in terms of fine motor and vision development?
Grab an object
Use both hands
What should a 8 month old do in terms of fine motor and vision development?
Take a cube in each hand
What should a 12 month old do in terms of fine motor and vision development?
Scribble with crayon
What should a 18 month old do in terms of fine motor and vision development?
Build tower of 2 cubes
What should a 3 year old do in terms of fine motor and vision development?
Build a tower of 8 cubes (should get higher as get older from 18 months)
What should a 3 month old be able to do in terms of speech, language and hearing development?
Laugh and squeal
What should a 9 month old be able to do in terms of speech, language and hearing development?
Dada/mama
What should a 12 month old be able to do in terms of speech, language and hearing development?
1 word
What should a 2 year old be able to do in terms of speech, language and hearing development?
2 words, sentences, names, body parts
What should a 3 year old be able to do in terms of speech, language and hearing development?
Speech mainly understandable
What should a 4 year old be able to do in terms of speech, language and hearing development?
Knows colours
Count 5 objects
What should a 5 year old be able to do in terms of speech, language and hearing development?
Knows meaning of words
What should a 6 week old baby be able to do in terms of social/self-care development?
Smile spontaneously
What should a 6 month old be able to do in terms of social/self care development?
Finger feed
What should a 9 month old be able to do in terms of social/self care development?
Wave bye-bye
What should a 12 month old be able to do in terms of social/self care development?
Use spoon/fork
What should a 2 year old be able to do in terms of social/self care development?
Take some clothes off
Feed a doll
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
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
What are normal variants in gross motor development?
Bum shuffling
Commando crawling
Often run in families
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
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
What happens a visits in the healthy child programme?
Growth and development checks
Discussion of parental concerns
At risk families identified
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
What is concerning in gross motor development?
Not sitting by 1
Not walking at 18 months - especially in boys ?muscular dystrophy
What is concerning in fine motor development?
Hand preference by 18 months - ?cerebral palsy/other neurological problem
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
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
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
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?
What does a developmental assessment do?
Compares a child’s abilities to age expectations
What is important to remember with child development?
Spectrum of normal
What screening tools may be used?
Schedule of growing skills, griffiths, Bailey’s
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
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
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
What can cause developmental delay?
Genetics Factors in pregnancy Factors around birth Factors in childhood Environmental factors
What genetic factors can cause developmental delay?
Chromosomal disorders eg Down syndrome Microdeletions Microduplications Single gene disorders eg Rett syndrome, Duchennes Polygenic - autism, ADHD
What factors in pregnancy can lead to developmental delay?
Congenital infections eg CMV, HIV
Exposure to drugs and alcohol
MCA infarct - cerebral palsy
What factors around birth can lead to developmental delay?
Prematurity
Birth asphyxia
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
What environmental factors can lead to developmental delay?
Abuse and neglect
Low stimulation
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
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
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
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
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
What is an impairment?
An abnormality or loss of function
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
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
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
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
How is disability assessed?
WHODAS
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
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
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
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
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
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
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
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
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
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
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
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
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
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
If you have concerns about linear growth in a child > 2 what should you do?
Determine BMI centile
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
When should you make allowances in terms of faltering growth?
Preterm birth
Neurodevelopmental concerns
Maternal postnatal depression/anxiety
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)
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
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
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
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
What are the potential underlying causes of a dysmorphic appearance?
Genetic abnormality, undiagnosed syndrome
What are the potential underlying causes of oedema?
Renal, liver disease
What are the potential underlying causes of hair colour/texture change?
Zinc deficiency
What are the potential underlying causes of heart murmur?
Anatomical cardiac defect
What are the potential underlying causes of hepatomegaly?
Infection, chronic illness, malnutriton
What are the potential underlying causes of a mental status change?
Cerebral palsy, poor social bonding
What are the potential underlying causes of poor parent-child interaction?
Depression
Social stress
What are the potential underlying causes of rash, skin changes, or bruising?
HIV infection
CMA
Abuse
What are the potential underlying causes of respiratory compromise?
Cystic fibrosis
What are the potential underlying causes of wasting?
Cerebral palsy, cancer
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
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
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
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
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
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
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
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
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
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
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
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
What is it called when cartilage is formed?
Chondrogenesis
Where do growth disorders originate from or affect?
The growth plate
Name 2 things that regulate growth
Nutrition
Inflammatory cytokines
Endocrine signals
Extracellular fluid
Why do we need to do multiple measurements for growth?
Dynamic process
Single measurements of limited value
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
What measurements should you do to assess growth?
Height/length
Sitting height
Body proportions
Head circumference
What body proportions do newborns have?
Larger head, smaller mandible, short neck, rounded chest, prominent abdomen, short limbs
What body proportions do adults have?
Relative growth of limbs compared to trunk
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
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
What is achondroplasia?
Dwarfism
Cartilage not proliferating properly
Large head, relatively short arms and legs
What is hypochondroplasia?
Short limbs
What do short back and long legs suggest?
Delayed puberty
How do you diagnose achondroplasia?
Proportion of limbs to body
How do you work out a boys predicted height?
Fathers height + (mothers height + 12.5cm)/2
(FH + MH)/2 + 7 range +/- 10cm
How do you work out a girls predicted height?
Mothers height + (fathers height - 12.5cm)/2
(MH + FH)/2 + 7 range +/- 8cm
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
What do you need to look at when measuring growth?
Rate of growth
Rhythm of growth
Height velocity
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
What is Tanner stage 1 in body?
Prepubertal
- No pubic hair
- Testicular length < 2.5cm
- Testicular volume < 3.0mL
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
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
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
What is Tanner stage 5 in body?
Adult type hair spread to medial surface of thighs
Genitalia adult size and shape
What measures testicular volume in mL?
Orchidometer
How common is Kleinefleter syndrome?
Affects approx 1 in 1000 males
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
Which is more concerning with late puberty - boys or girls?
Boys
What is hypogonadotrophic hypogonadism?
Secondary/tertiary hypogonadism
What can cause hypogonadotrophic hypogonadism?
CNS disorders Inherited conditions Idiopathic Genetic forms of multiple pituitary hormone deficiencies Others
What is the average difference in height between boys and girls?
12.5cm
Which sex has a smaller growth spurt during puberty?
Girls
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
What is the most likely cause of penile growth with pubic hair and small testes?
Androgen excess of adrenal origin
What is the most likely cause of large testes and no pubic hair?
True precocious puberty
What size testes are pre-pubertal?
1-3mL
What inherited causes can cause hypogonadotrophic hypogonadism?
Kallmann's syndrome LMRH receptor mutation Congenital adrenal hypoplasia Isolated LH/FSH deficiency Prohormone convertase 1 deficiency
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
What is Tanner stage 1 in girls?
Prepubertal
- No pubic hair
- Elevation of papilla only
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
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
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
What is Tanner stage 5 in girls?
Hair adult-type and distributed in classic inverse triangle
Adult contour breast with projection of papilla only
What is Turner’s syndrome?
45 X0
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
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
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
What should you rule out in girls with short stature?
Turner’s syndrome
What is the first sign of puberty in girls?
Breast buds
What is the first sign of puberty in boys?
Testicular enlargement
What age is considered pubertal delay in girls?
> 13
What age is considered pubertal delay in boys?
> 14
Is delayed puberty more likely related to an underlying cause in boys or girls?
Girls
What age is considered early puberty in girls?
< 8
What age is considered early puberty in boys?
< 9
Is early puberty more likely to have an underlying cause in boys or in girls?
Boys
What is the relationship between growth and pubertal changes?
Growth spurt happens during peak of puberty
How common is true precocious puberty?
Incidence 1 in 5000 to 10,000
90% female
How common is idiopathic CPP?
Up to 80% female
Only 30% males
What happens in true precocious puberty?
GnRH activation - activation of HPG axis
What should you worry about with a boy in true precocious puberty?
Hypothalamic/pituitary tumour
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
What is precocious pseudo puberty?
Secondary sexual characteristic development without activation of HPG axis
What can cause precocious pseudopuberty?
Secreting tumours of gonads, brain, liver, retroperitoneum, mediastinum
Often produce hCG
What problems might a paediatric endocrinologist see?
Poor growth - failure to thrive
Psychosocial deprivation
Stretch marks and overweight
What can skeletal maturity show you?
L hand XR
Bone age
Delayed bone age in GH deficiency
Advanced bone age in precocious puberty
What factors can affect birth weight?
Maternal size and weight Parity Gestation diabetes Smoking Paternal size
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
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
What are most endocrine problems associated with?
Overweight
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
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
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
What can cause overgrowth with impaired final height?
Precocious puberty
Congenital adrenal hyperplasia
McAlbright syndrome
Hyperthyroidism
What can cause overgrowth with increased final height?
Androgen/oestrogen deficiency/resistance
GH excess (v rare)
Klinefelter’s
Marfan’s
What does someone with nutritional obesity look like?
Tall and fat
What does someone with endocrine obesity look like?
Short and fat
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
What do we worry about with high levels of conjugated bilirubin?
Biliary atresia
What is the condition called where you get deposition of unconjugated bilirubin in the basal ganglia?
Kernicterus
What are the symptoms of kernicterus?
Poor feeding Irritability High-pitched cry Lethargy Apnoeas Floppy
Is kernicterus reversible?
No
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
What do we count as prolonged rupture of membranes in term babies?
> 24 hours
What do we count as prolonged rupture of membranes in preterm babies?
> 18 hours
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
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
How do you treat early-onset sepsis in a newborn?
Ben pen and gentamicin IV
Ben pen 60mg/kg 12hly
Gent 5mg/kg
How is meningitis treated?
Cefotaxime and amoxicillin
How do you treat late onset sepsis in a newborn?
Depends on organism
What is a chronic illness?
Long term condition, that is present for, or is expected to last a lengthy duration
Disabilities
Life-threathening
Name 3 types of chronic illness
Asthma Allergies Cancer CF Diabetes Epilepsy IBD JIA
Name a lifelong chronic illness
Deafness
Name a relapsing remitting chronic illness
Asthma
Name a progressive chronic illness
JIA
Name a slowly deteriorating chronic illness
Muscular dystrophy
Name a potentially curable chronic illness
Cancer
Name a variable course chronic illness
CF
How can you classify the causes of faltering growth?
Prenatal
Post-natal
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
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
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
Name 3 causes of physical problems with feeding
Cleft palate
Hypotonia
Micrognathia
Prader-Willi syndrome
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
Name 3 causes of increased metabolic demand
Hyperthyroidism
Chronic heart/respiratory disease - heart failure, asthma, bronchopulmonary dysplasia
CKD
Malignancy
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
What is worrying about a child who was growing normally and then stops growing normally?
Something more insidious causing it
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
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
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
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
