Development Flashcards
How is short stature defined
Height below the second centile
What is height velocity and why is it useful
Height velocity measures the rate of growth in cm/year, taken from 2 height measures at least 6 months apart preferably 1 year
Useful as even though a child may be in the normal centile for height or weight this can identify a growth delay
How is genetic target centile calculated
Average of parents height
Add 7cm for boy with 9th-91st centile calculated +-10cm
Subtract 7cm for girl 9th-91st centile calculated +-8.5cm
Causes of short stature
Familial normal variant
IUGR or extreme prematurity
Delayed puberty (normally familial)
Endocrine causes- cushings syndrome, IGF-1 or GH deficiency, hypothyroidism
Chronic illness
Nutritional deficit
- GI diseases
- insufficient food
Chronic disease
- crohns
- coeliac
- CF
- CKD from renal tubular acidosis
Psychosocial deprivation
How is bone aged assessed
X-ray of the wrist and hand looking at epiphyseal maturity
What does a delayed bone age suggest in short stature
If moderately delayed suggests puberty delay or nutritional/chronic illness cause
If severely suggests endocrine causes
What does weight centile greater than height centile suggest in short stature
Endocrine cause
What does height centile greater than weight centile suggest in short stature
Nutritional cause or chronic illness
In delayed puberty what is physical sign of this causing short stature
Legs long compared to the back
What can cause GH deficiency in a child
Can either be isolated defect or secondary to panhypopituitarism
Mid facial defects
Craniopharyngioma
Laron syndrome
Hypothalamus affected
- tumour
- trauma
- meningitis
What is laron syndrome and blood findings
Where insensitivity to GH
- high GH
- low IGF-1
What suggests craniopharynioma causing low GH in short stature
Papilloedema
Bitemporal hemianopia
Investigations for short stature
Bloods
- FBC
- U&Es
- calcium and phosphate
- TSH
- CRP
- coeliac hormones
- GH provocation, IGF-1, dexamethasone provocation test
If neuro symptoms MRI
X ray of wrist and hand
Chronic diseases leading to short stature
CF
CHD
Coeliac
IBD
SCD
Thalassaemia
When refer to developmental delay when does this apply
0-5 years
Causes of delayed motor development
CP
Congenital myopathy
Spinal chord lesions
Spina bifida
Part of global delay
Varied initial moving- commando crawl or bottom shuffling
How does method of initial movement affect motor development
Bottom shuffling and commando crawling delay walking
Expect by 27 months
How does prematurity affect developmental milestones
Calculate from expected date of delivery
After 2 years do not make exception
Causes of speech and language development delay
Hearing loss
Difficulty in production of of speech from anatomical deficit ie cleft lip
Oromotor incoordination - CP
Environmental lack of delay/understimulation
Normal variant/familial pattern
How are speech and language development issues managed
Hearing tests
Referral to SALT
Causes of abnormal social communication developmental delay
Autism spectrum disorders
Classify causes of global developmental delay
Prenatal
- genetic conditions- downs, fragile X
- metabolic (hypothyroidism, inborn errors of metabolism)
- congenital infections
Perinatal
- prematurity linked IVH
- HIE
- hypoglycaemia
- kernicterus
Postnatal
- meningitis/encephalitis
- anoxia
- trauma
Causes of learning difficulty/slow school progress
Common
Hearing impairment
Visual impairment
Low IQ
Rarer
Specific learning impairments
What are specific learning impairments and the examples
Skill described is more delayed than would be expected for the child’s
level of cognitive ability
ADHD
Dyslexia
Dysgraphia
Dyscalculia
What is dyslexia a disorder of
Reading disproportionate to IQ
What are dysgraphia and dyscalculia
These are disorders in the development of writing skills and calculation skills
How would you explain the management of specific learning disorders
Aimed at impriving skill acquisition with educational and IT support where necessary
Through variety of therapists
What is dyspraxia
Disorder of coordination, motor planning with no significant findings on standard neuro examination
How is obesity assessed in children
BMI adjusted for gender and sex
What is inheritance and mutation of achondroplasia
Autosomal dominant
Fibroblast growth factor receptor 3 which results in abnormal cartilage
Presentation of achondroplasia
Shortened limbs and fingers
Large head with frontal bossing
Midface hypoplasia
Flattened nasal bridge
Trident hands
Lordosis of lumbar region
Management of achondroplasia
Limb lengtening surgeries where are targeted bone fractures or apply frames
What is included in the national child health surveillance programme
As a newborn
- clinical examination
- oto-acoustic emissions test
First month
- Guthrie blood spot
- midwife visit
Following months
- health visitor input
- GP examination at 6-8 weeks
- immunisations
Pre school
- orthoptist led programme for pre school vision
Large head with out of proportion sized limbs
Achondroplasia
How often should children have their growth measured
0-1= 5x annually
1-2= 3x annually
2 onwards= annually
How should height centiles be assessed with regards to referrals
Under 2nd centile= seen by GP
Under 0.4th centile= seen by paediatrician in outpatient setting
If failure to thrive starts around 6 months what could be cause
Coeliac as start to wean off milk
Thalassaemia however would not survive much longer without it
Clinical features of GH deficiency
Normal growth until 6-12 months
Drastically reduced bone age
Associated with neonatal hypoglycaemia, doll like face( round face with short chin and nose) and jaundice
According to NICE what is first line investigation for global development delay
Karyoptyping
