Community Flashcards
Abnormal development
Significant lag in a child’s physical, cognitive, behavioural, emotional or social development, relative to established growth milestones
Abnormal development aetiology
Genetic disorders
Prenatal exposure to toxins/drugs/alcohol
Premature birth
Nutritional deficiencies
Environmental factors
Abnormal development example issues
Referral points
- doesn’t smile at 10 weeks
- cannot sit unsupported at 12 months
- cannot walk at 18 months
Final motor skill problems - hand preference before 12 months is abnormal → cerebral palsy
Gross motor problems - variant of normal, cerebral palsy, NMD
Speech and language problems - check hearing, environmental deprivation & general development delay
Abnormal development ddx
ASD
Cerebral palsy
Fragile X syndrome - genetic condition causing ID, behavioural challenges & various physical characteristics
Down syndrome
FASDs
Abnormal development initial management
Clinical examination
Ix - genetic testing, metabolic screening, neuroimaging studies, hearing/vision assessments
Referral for specialist assessment
Early intervention services - OT, SALT, PT & educational support
Factors which point towards child abuse
Children may disclose abuse themselves
Story inconsistent with injuries
Repeated attendances at A&E departments
Delayed presentation
Child with frightened, withdrawn appearance
Physical presentations of child abuse
Bruising
Fractures - at different stage of healing
Torn frenulum
Burns/scalds
Failures to thrive
STIs
Turner’s syndrome
Chromosomal disorder affecting females
Presence of only one sex chromosome or a deletion of the short arm of one of the X chromosomes
Turner’s syndrome features
Short stature
Shield chest, widely spaced nipples
Webbed neck
Bicuspid aortic valve, coarctation of the aorta
Primary amenorrhea
Noonan syndrome
‘Male Turner’s’
Autosomal dominant condition associated with a normal karyotype
Thought to be caused by a defect in a gene on chromosome 12
Noonan syndrome features
Similar to Turner’s - webbed neck, widely-spaced nipples, short stature, pectus carinatum & excavatum
Pulmonary valve stenosis
Ptosis
Triangular-shaped face
Low-set ears
Coagulation problems - factor XI deficiency
CP
Permanent neurological problems resulting from damage to the brain around the time of birth
CP causes
- antenatal
- maternal infections
- trauma during pregnancy
- perinatal
- birth asphyxia
- pre-term birth
- postnatal
- meningitis
- severe neonatal jaundice
- head injury
CP types
- spastic: hypertonia & reduced function resulting from damage to upper motor neurones
- dyskinetic: problems controlling muscle tone, with hypertonia & hypotonia → athetoid movements and oro-motor problems
- result of damage to the basal ganglia
- ataxic: problems with coordinated movement resulting from damage to the cerebellum
- mixed
CP clinical features
- failure to meet milestones
- increased/decreased tone, generally/in specific limbs
- hand preference below 18 months
- problems with coordination, speech or walking
- feeding/swallowing problems
- learning difficulties
- hemiplegic/diplegic gait
- caused by increased muscle tone and spasticity in the legs
- leg will be extended with plantar flexion of feet & toes
CP complications & associations
- learning disability
- epilepsy
- kyphoscoliosis
- muscle contractures
- hearing & visual imapirment
- GORD
CP mx
- multi-disciplinary team approach
- physiotherapy is used to stretch and strengthen muscles, maximise function & prevent muscle contractures
- OT
- SALT
- dieticians
- orthopaedic surgeons
- paediatricians - optimise medications
- muscle relaxants
- anti-epileptic drugs
- glycopyrronium bromide (for excessive drooling)
- social workers
- charities & support groups
Down syndrome
Caused by three copies of chromosome 21 (called trisomy 21)
- characteristic dysmorphic features & associated with a number of associated conditions
Down syndrome dysmorphic features
- hypotonia
- brachycephaly (small head with a flat back)
- short neck
- short stature
- flattened face & nose
- prominent epicanthic folds (folds of skin covering the medial portion of the eye & eyelid)
- upward sloping palpebral fissure (gaps between the lower and upper eyelid)
- single palmar crease
Down syndrome complications
- learning disability
- recurrent otitis media
- deafness (eustachian tube abnormalities)
- visual problems
- hypothyroidism
- cardiac defects affect 1 in 3
- atlantoaxial instability
- leukaemia
- dementia
Down syndrome antenatal screening
- all women offered screening for Down’s syndrome
- combined test - 1st line
- performed between 11 and 14 weeks gestation
- combining results from ultrasound & maternal blood tests
- ultrasound → nuchal translucency
- maternal blood tests → beta-hCG & pregnancy-associated plasma protein-A (PAPPA)
- triple test
- performed between 14 and 20 weeks gestation
- only involves maternal blood tests
- beta-hCG
- alpha-fetoprotein
- serum oestriol
- quadruple test
- performed between 14 and 20 weeks gestation
- identical to the triple tests but also includes maternal blood for inhibin-A
Down syndrome antenatal testing
- screening tests provide a risk score for the fetus having Down’s syndrome → when risk > 1/150 the woman is offered amniocentesis/chorionic villus sampling
- tests involve taking a sample of fetal cells, with then undergo karyotyping to give a definitive answer
- chorionic villus sampling - involves an ultrasound guided biopsy of the placental tissue
- testing is done earlier in pregnancy (< 15 weeks)
- amniocentesis - involves ultrasound guided aspiration of some amniotic fluid using a needle & syringe
- later in pregnancy once there is enough amniotic fluid to make it safer to take a sample
- chorionic villus sampling - involves an ultrasound guided biopsy of the placental tissue
Down syndrome non-invasive prenatal testing
- relatively new test for detecting abnormalities in fetus during pregnancy
- simple blood test from mother
- blood will contain fragments of DNA → some will come from placental tissue
- can be analysed & detect conditions such as Down’s
- not definitive test but gives a very good indication
Down syndrome mx
- supportive care from the multidisciplinary team
- OT
- PT
- SALT
- paediatrician
- health visitors
- GP
- dietician
- many more..
- routine follow up investigations
- regular thyroid checks (2 yearly)
- echocardiogram to diagnose cardiac defects
- regular audiometry
- regular eye checks
