Growth, Development, and Endocrinology Flashcards
Why is birth history important to consider when assessing development?
Milestones should be corrected for age eg. 2 months preterm - expect milestones 2 months later
Complications at birth can affect development eg. HIE and CP
What milestones should a child reach by 6 weeks?
Gross motor: Head control (eg. lying on tummy with head up at 45˚)
Fine motor/vision: fixes and follows
Hearing + language: stills to sound
Social: smiles
What milestones should a child reach by 6 months?
Gross motor: sitting unsupported
Fine motor/vision: full hand grip, transference
Hearing + language: turns to sound, babbling
Social: laughs
What milestones should a child reach by 12 months?
Gross motor: pulling to stand, cruising, first steps
Fine motor/vision: mature pincer grip, pointing
Hearing + language: first words, responds to name
Social: plays peek-a-boo, waves, drinks from cup
What milestones should a child reach by 18 months?
Gross motor: walking, running
Fine motor/vision: scribbles, builds small tower, hand preference
Hearing + language: 6-12 word vocabulary, follows instructions
Social: symbolic play, spoon feeding
What milestones should a child reach by 24 months?
Gross motor: runs, climbs stairs 1 at a time, kicks ball
Fine motor/vision: builds bigger tower, circular scribble
Hearing + language: 2 word sentences
Social: toilet training, removes clothes
What milestones should a child reach by 3 years?
Gross motor: climbs stairs well, stand on one leg
Fine motor/vision: draws a circle, copies a bridge
Hearing + language: 3 word sentences
Social: parallel play, shares, interacts
What are the red flags in development and limit ages for different milestones?
Red flags: regression, parents worried
- Hand preference before 1 year
- No smile or head control by 10 weeks
- Not sitting or pincer grip by 12 months
- Not walking, <5 words by 18 months
- No interaction at 3 years
What are some of the primitive reflexes? When do you expect them to regress?
Grasp, rooting + sucking, Moro, stepping, asymmetric tonic neck reflex
Should regress by 6 months or so
What is the grouping approach to screening development?
Based on the fact that certain domains are more actively developing at different ages.
<18 months: gross motor -> hearing + fine motor (hand)
18 mos -2.5 years: fine motor, speech and language
2.5 years +: speech -> social and emotional
What can be included in a developmental assessment?
MDT approach to assessing development
- Assess all 4 domains
- May include paeds, psych, OT, SALT, etc
- May include standardised testing eg. Griffiths and Bailey (global scales) or specific eg. Autism diagnostic interview
- Often play-focussed
What is the healthy child programme?
The HCP is the early intervention and prevention public health programme for children and adolescents. Includes:
- Screening: NIPE, Guthrie, vision + hearing (OAE), growth
- Immunisations
- Developmental reviews (led by health visitor) at 1 year, 2.5 years
- Health promotion
Define: developmental delay, learning disability and learning difficulty
- Developmental delay: slow acquisition of skills, seen as failure to reach developmental milestones by the normal age
- Learning disability: reduced intellectual ability affecting all areas of life
- Learning difficulty: a condition that creates an obstacle to a specific type of learning, without impacting intelligence eg. dyslexia
What is a global developmental delay? What are some causes? What investigations should you consider?
Delay affecting 2+ domains. -Chromosomal: Down's -Metabolic: PKU, hypothyroid -Infectious: congenital rubella syndrome, toxo -Birth asphyxia, kernicterus -Trauma -Abuse/neglect Ix: karyotype, FBC, U+Es, LFTs, TFTs, viral PCR, cranial USS, EEG
What are some causes of motor delay? How does it present?
- CP, myopathy, spinal cord lesions
- In the first 3 mos-2 years. Delay in walking, gait abnormality, poor balance and coordination
Define cerebral palsy
Any permanent disorder of movement +/or posture and motor function due to a non-progressive brain abnormality (that occured <2 years)
What are the causes of cerebral palsy?
- Antenatal: genetic syndrome, infection, vascular
- Hypoxic birth injury
- Postnatal infection, trauma, metabolic
How can CP present?
Gross/fine motor delay
- No head control
- Poor feeding eg. choking, poor suck
- Abnormal posture + tone
- Abnormal gait
- Hand preference <1 years
- May have microcephaly, seizures, low IQ
What are the types of CP? Briefly describe them
- Spastic: unilateral or bilateral UMN lesion. Spastic tone (velocity dependant eg. dynamic catch), brisk reflexes, tiptoe walking, scissoring.
- Dyskinetic: BG and extra-pyramidal damage, kernicterus + HIE. Involuntary movements: chorea (quick jerks), athetosis (slow writhing), dystonia (twisting)
- Ataxic/hypotonic: usually genetic. Poor balance + tone, incoordinate movements, ataxic gait
What is the management of CP?
MDT approach! At child development service bc of wide physical, social and psych needs.
- Paediatrician
- Physio: massage
- OT: aid with various activites eg. dressing, eating, washing, moving about
- SALT: feeding assessment, speech
- Psychologist
- Specialist nurses
What are some causes of speech and language delays and disorders? How are they managed?
Delay:
- Structural: cleft palate
- Hearing loss
- Global delay
- Neglect
Disorders: autism, stammer, dysarthria
Mx: SALT assessment, hearing tests. School support.
Describe the characteristic features of autism
- Speech and language abnormalities:
- Delay, echo, poor comprehension of abstract language, poor nonverbal communication - Repetitive and ritualistic behaviours and restricted interests:
- Disruption causes tantrums, favourite toys/objects, routines - Difficulties with social interaction:
- Likes own company, doesn’t seek out comfort from friends/parents, gaze avoidance, no empathy
Describe the diagnosis and management of autism
Dx: made by specialist neurodevelopmental paeds. Autism diagnostic interview
Mx: MDT approach. Paeds, SALT, psychologist
-Behaviour modification therapy.
-Social skills training
-Educational assessment w/ school involvement
-Family support eg. support groups
Describe the classification of learning disability. What is the management/ability in each?
- Mild: 70-80. May need extra school support.
- Moderate: 50-70. May need special school. Can live independently
- Severe: 35-50. Special school, may do minimal self care, need lots of support.
- Profound: <35. Special school, no independence.
Name some specific learning difficulties
- Development coordination disorder/dyspraxia: poor handwriting, hard to dress, messy eater
- Dyslexia: poor reading skills
- Dyscalculia
Describe the characteristics of ADHD and basis of diagnosis
Need impaired attention + hyperactivity, present since <6 years, in several domains and causing impairment
-Impaired attention: hard time sitting still and focusing on one task, easily distractable
-Hyperactivity: running around, doesn’t sit down for long, fidgety
Also disorganised, interrupt conversations, difficulty in sharing, etc.
Describe the management of ADHD
**If presenting to GP: watchful waiting + parent support groups for 10 weeks / refer straight away if significant impairment
Diagnosis must be made by specialist
Mx: MDT approach (paeds, CAMHS, psychologist)
-Conservative: diet + exercise
1st: ADHD-focused group parenting/support groups
-Parenting strategies, school involvement, education
2nd: medication- methylphenidate (6 week trial), lisdexamphetamine, atomoxetine. Baseline ECG, monitor growth, HR + BP, tics etc
Consider CBT
Explain the diagnosis of ADHD and the management as if to a parent (in a GP setting)
- From what you have described, I think your child may have a condition called ADHD
- Have you heard of this before? What do you think?
- ADHD is a common condition, and means that your child has difficulty with maintaining attention as well as being over-energetic, which is causing problems at home + school
- While this may be the case, there may be other explanations for their behaviour. The first thing we do when we think a child might have ADHD is to watch and wait for 10 weeks. I’ll also refer you to an ADHD support group for parents, which can help you to talk to others going through similar things and get more info, as well as learn some parenting techniques
- In 10 weeks, we’ll review how things have gone and if there are still problems, we’ll refer you to a specialist who will be able to make a diagnosis and advise on how to manage
What are some causes of hearing impairment in children? What is the management?
-Sensorineural: infection, preterm, HIE
-Conductive: otitis media with effusion, Eustachian tube dysfunction (Downs, cleft palate)
Mx: treat conductive eg. grommet, antibiotics
-Early detection and hearing aids, cochlear implant
-MDT with SALT, audiometry
What are some causes of visual impairment? What is the management?
- Malformations
- Cataracts (rubella)
- Retinoblastoma
- Squint/strabismus: due to refractive errors, cataracts etc. Cover test.
- Myopia/hypermetropia: myopia (near-sight, give concave lenses), hypermetropia (far-sight, give convex lenses)
- Nystagmus
What are the main factors controlling growth during different phases?
- Fetal: maternal size, placental supply
- Infancy: T3/T4, nutrition
- Childhood: GH, T3/4, nutrition
- Adolescence: sex steroids
Describe the process of pubertal development. How is puberty assessed?
-Breast budding (thelarche)
-Pubic and axillary hair growth (pubarche, adrenarche)
-Menarche
Clinical by history + examination (Tanner stages, testicular volume), bone age
Define short stature and tall stature. What are some causes of each?
Short stature: <2nd centile. Constitutional (genetic), chromosomal abnormality, chronic illness, malnutrition, endocrine disorders
Tall stature: >98th centile. Constitutional (genetic), Klinefelter’s, Marfan’s, gigantism
The parents of an 11 year old girl have brought her to the GP because they are worried that she is small compared to her peers. Describe your approach.
History:
-How much shorter? Has she always been this way eg. birth weight/size? How was growth early? Parental height? Weight? Puberty?
-Any PMH eg. chronic illness, anything picked up on NIPE
-Nutrition
-FHx
Examination: height + weight, general exam looking for signs of illness/nutrition/chromosomal abnormality, signs of puberty (breasts, hair growth). Review notes + red book
Can consider bloods (TFTs, cortisol, IGF1, FBC, CRP, U+E, LFTs, anti-TTG, karyotype). Xray for bone age
When do fontanelles close?
Posterior: 8 weeks
Anterior: 12-18 months
Name some causes of microcephaly and macrocephaly
Microcephaly: chromosomal abnormality, congenital infections, fetal alcohol syndrome, brain injury
-Focus on antenatal history, birth history, development
Macrocephaly: raised ICP eg. hydrocephalus, tumour
What is craniosynostosis? Plagiocephaly? How can you differentiate between the two? How are they managed?
Craniosynostosis: premature fusion of the cranial sutures
Plagiocephaly: flattening of the skull. RFs: prematurity, spending time on the back, plagiocephaly
Dx: examination. Plagiocephaly will have opposite sides with frontal + occipital protuberance (parallelogram), while one side with have protuberances in craniosynostosis. There is a bony ridge along the suture line in synotosis. CT scan.
Mx:
-Plagiocephaly: reassure and advise tummy time, change positions, helmet at 4-6 months old if no improvement
-Craniosynostosis: surgery to relieve pressure
Define precocious puberty. Name some causes.
Onset of puberty before 8 years in girls, 9 years in boys
- Central/idiopathic PP: constitutional, common in F
- Pseudo/false PP: CAH, sex hormone producing tumours (sex cord stromal)
What is the management of precocious puberty?
Treat cause eg. surgery for tumours
Delay skeletal maturation: GnRH analogues (leuprolide)
Psychological support
Define delayed puberty. Name some causes
Onset of puberty >14 years F, >15 years M
- Hypogonadotrophic: Kallmans, HH (anorexia, chronic illness), constitutional
- Hypergonadotrophic: Turners, gonadal damage
Describe the management of delayed puberty
M: reassure.
F: investigate. Weight gain, HRT.
Stimulate puberty with short course of T/E2.
What are the recommendations for feeding in infancy?
- WHO recommends exclusive breast-feeding for 6 months
- Donor milk > formula
- Weaning around 6 months, continue breast until 2 years. No salt, sugar, honey.
What are the different types of formula?
- Normal formula: cows milk based
- Extensively hydrolysed formula: better for CMPA
- Amino acid formula: for severe intolerance/allergy
Which vitamins and minerals are low in cows milk?
Iron, Vit A, C, D -> anaemia, Ricket’s, scurvy
Define faltering growth
- Drop in weight down 2 centile lines in normal child
- Drop down 1 centile line in small child (<9th centile)
- Current weight <2nd centile
Name some causes of faltering growth
- Poor feeding: neuro, cleft palate, tongue tie
- Infection
- Malabsorption: coeliac, CF, CMPA, lactose intolerance
- Under nutrition: neglect, picky eater
- Chronic illness
- Endocrine disorders
- IMDs
How would you approach a case of suspected faltering growth?
History:
- Onset (birth weight + centiles), progression. Parent height
- Feeding history: type, quantity, feeding difficulties, choking/coughing during feeds
- Other symptoms: vomiting, bowels, lethargy, fever
- Development screen
- PMH (birth, illness), immunisations, FHx
- Social: coping + home support, maternal stress
Examination: weight + height, general for signs of chronic illness, vitamin deficiency, infection, neuro. Red book.
Ix: consider as appro: food diary, breastfeeding observation, bloods (FBC, CRP, ESR, U+E, LFTs, TFTs, anti-TTG)
What amount of weight loss is normal in infancy?
Weight loss common in the first week of life due to water loss
- Should stop by 3-4 days
- Should be <10% of body weight
- Should regain by 3 weeks of age
Name some causes of Rickets
- Exclusive breastfeeding/cows milk feeding
- Lack of sun
- Malabsorption: CF, coeliac
- Liver/kidney disease
Who might be involved in cases of faltering growth? (eg MDT)
- Paediatrician
- GP
- Specialist nurses
- Dietician
- Psychologist
- CAMHS
- SALT
- Midwives
- Health visitor, social worker
Name several physical features of Down’s syndrome
- Short stature
- Flat nasal bridge
- Almond shaped slanted eyes
- Epicanthic folds
- Brushfield spots
- Macroglossia
- Low set ears
- Nuchal skin
- Single palmar crease
- Sandal gap
- Hypotonia
What are some complications of Down syndrome?
Hirschprung's Cardiac abnormalities eg. ASD, VSD TOF and oesophageal atresia Cataracts, squint Otitis media with effusion Leukemias Dementia
What are the 3 common trisomies?
Downs: 21
Edward: 18
Patau: 13
What are some features of Turner syndrome in children?
Lymphoedema Cystic hygroma Short stature Webbed neck Barrel chest + widely spaced nipples Wide carrying angle Coarctation of the aorta
What are some features of DiGeorge syndrome? What is the cause?
22q11 deletion CHD: Tetralogy, VSD Thymic hypoplasia Low Ca Palate defects Small jaw, flat midface
What are some features of Fragile X syndrome?
Tall stature Macrocephaly Macroorchidism Large ears Prominent jaw Autism, ADHD
Name some causes and risk factors of diabetes in children
- T1DM: autoimmune
- T2DM: obesity
- CF
- Down’s
- Cushing’s
Describe the presentation of T1DM
- Weeks of polyuria, polydipsia + weight loss, nocturnal enuresis, infections
- DKA: abdo pain, N+V, dehydration, confusion and drowsiness
How is T1DM diagnosed?
- Symptoms + plasma glucose >11.1 random or >7.0 fasting
- HbA1c may be raised
- Raised plasma ketones
- Antibodies: anti-glutamic acid decarboxylase, anti-Islet cell, anti-insulin
How is DKA diagnosed?
Metabolic acidosis: pH <7.3
Hyperglycaemia: >11.1
Ketosis: >3
Describe the management of suspected DKA
A-E approach
Urine dip, MC+S
Bloods: VBG, FBC, CRP, U+E, glucose, ketones, HbA1c, cultures
1. IV fluids: bolus if shocked, correct deficit and give maintenance. With potassium 40mmol/L
2. Start insulin after 1 hour. 0.05 units/kg infusion
4. 5% glucose. Once plasma glucose 14 mmol/L
5. Treat any underlying cause eg. antibiotics
Monitor: cardiac monitor
-Hourly: obs, fluid balance, cap glucose
-After 2 hours, then 4 hourly: plasma glucose and ketones, U+Es, VBG
Start SC insulin after normal ketones, alert and drinking. Stop infusion after 1 hour.
What are some complications of DKA?
- Cerebral oedema
- Hypokalaemia
- VTE
A 7 year old child has been brought to the GP by his mother because she is worried about his weight loss. She says he is also urinating more. Describe your approach .
History:
-Onset, progression
-Degree of weight loss, ideas, nutrition
-Polyuria and polydipsia, day/nocturnal enuresis
-Infection: fever, urine changes, dysuria
-N+V, abdo pain, drowsiness
-PMH, DHx, allergies, immunisations, development
-FHx autoimmune
Examination: general including dehydration, weight + height, obs, urine dip
Immediate urgent referral to paediatrics if possible DM
Describe the management of T1DM from the time of diagnosis
Explain diagnosis and MDT approach
Education on diet + management: dietician, specialist nurse
Insulin: daily SC injections of insulin, starting with basal-bolus regime.
Glucose monitoring: measure at least 5x/day: eg. on waking, before 3 meals, before bed. Aim 4-7 before meals, 5-9 after meals.
How to recognise hypos and what to do
How to manage illness (measure ketones)
Long term management:
-Monitoring HbA1c 4x/year
-Monitoring complications annually: eyes, BP, ACR, TFT
-Psychological support + family support
What are the different types of insulin regimes, which is preferred?
- Basal-bolus: basal long-acting insulin + rapid-acting before meals. First line.
- Continuous SC/insulin pump. Second line.
- 1/2/3 injections per day: mixed preparations
What are the types of insulin available?
- Rapid-acting: lispro (Humalog), aspar (Novorapid)
- Intermediate-acting
- Long-acting: Levemir, Lantus
What do you do at an annual diabetes review?
- Review control: diary and HbA1c, any hypos/DKA/hospital? Hypo awareness? Any problems? Address compliance
- Check growth
- Annual TFTs, ACR, BP, eye check, feet, flu shot
What are some causes of congenital hypothyroidism? How does it present?
Maldescent/athyrosis, dyshormonogenesis, I2 deficiency
Usually detected on Guthrie test (tests TSH).
Poor growth, jaundice, feeding problems, coarse facies, hoarse cry, developmental delay
What is the management of congenital hypothyroidism?
Levothyroxine by 2-3 weeks of age to prevent developmental issues
What is the management of hyperthyroidism in children?
Carbimazole/PTU for 2 years
-Safety net about sore throat/fever (neutropenia)
2nd line: surgery
What is the management of hypocalcaemia?
Acute: IV Ca gluconate
Chronic: Ca and Vit D supplements
Describe the pathophysiology of CAH
Deficiency in the enzymes that produce cortisol/aldosterone -> increased sex hormone production
- Classical CAH (21 OHlase deficiency): ambiguous genitalia in F/large penis in M, salt losing crisis due to lack of cortisol + aldo
- Non-classical CAH: later in life with precocious puberty
How is CAH diagnosed?
Clinical suspicion: ambiguous genitalia, shocked neonate
- Cortisol (low), aldosterone (low), ACTH (high)
- 17 OH progesterone levels (high)
- Salt losers: Na low, K high, metabolic acidosis, hypoglycaemia, hypotension
What is the management of CAH?
Crisis: IV fluids, glucose, IV hydrocortisone
Long term:
-Lifelong replacement of hydrocort +/- fludrocort
-Genital surgery
-Monitor growth, puberty, hormone levels
What should you do if a newborn has ambiguous genitalia?
Do not assign gender
- Karyotype
- USS for gonads
- Hormone levels: adrenal + sex hormones eg. 17OH progesterone, cortisol, ACTH, aldosterone, androgens
