Paediatric Genetics Flashcards
Definition of developmental delay?
Functional delay in one or more developmental domains
2SD below mean of age appropriate norm
What is global developmental delay?
Delay in 2 or more domains
What are the causes of motor delay?
Cerebral palsy
Delayed maturation
Co-ordination disorder
Sensory causes of delay?
Specific language impairment
What are the major red flags of developmental delay?
FLOPPY
No speech by 18 months
Toe walking
Can’t sit unsupported by 1 yr
Not walking by 18m
No running by 30m
Unable to hold objects by 5m
Aetiology of autism?
Idiopathic
Sibs and parents with OCd, anxiety, depression
What conditions are associated with autism spectrum disorder?
Rubella
Downs
Fragile X
Tuberous sclerosis
3 (triad) main symptoms of autism?
- Qualitative impairment of reciprocation of social interaction (can’t respond to things normally)
- Repetitive stereotypical behaviours (unusual hobbies)
- Poor communication
Management of autism?
Recognise and accept condition
Advice and education
Establish needs
What are the three main causes of cerebral palsy (CP) on the whole?
Pre-natal
Perinatal
Post-natal
What are the pre-natal causes of CP?
ToRCH
- Toxoplasmosis
- Other
- Rubella
- CMV
- Herpes/HIV
What are the perinatal causes of CP?
Anoxic injury
Prematurity
Kernicterus
What is kernicterus?
Bilirubin toxicity in the brain
What are the post natal causes of CP?
CMV
Rubella
Head trauma
Typical presentation of CP?
” 18 m/o presents failing to meet developmental milestones. He sat independantly at 1 y/o but does not pull to stand or attempt to walk. He has hyperreflexic lower limbs and bilateral ankle clonus. “
What are the 4 types of CP?
Spastic
Ataxic
Athetoid
Rigid
What is affected in spastic CP?
Pyramids
What is affected in ataxic CP?
Cerebellum
What is affected in athetoid CP?
Extrapyramidal
What is affected in Rigid CP?
Basal ganglia
How else is CP categorizeD?
Anatonical number of limbs affected
- Bi
- Hemi
- Mono
etc
What score can be used in CP?
Gross Motor Classification Score (GMCS)
What is the GMCS?
1: Can walk without limitation
2: Can walk with some limitation
3: Can walk with handheld aid
4: Can’t walk but can use EWC
5: Can’t walk or use EWC used MWC and is pushed
Investigation CP?
Examination
- Functional problems
MRI
Hip XR
Treatment of CP?
MDT involvement
Pharma
- Baclofen
- Diazepam
Surgery
- Scoliosis
- Hamstring/adductor release
How is hamstring/adductor relaxation done?
Botox injections
What are the characteristics of Down’s Syndrome?
AVSD
- Singular AV valve
- Ostium primum
- High VSD
Duodenal atresia
Single palmar crease
Specific facies
What are the facies of Downs?
Flat occiput Upward slanting eyes Epicanthal folds Low set ears Small mouth Protruding tongue
What is Turners Syndrome?
45XO
Missing X chromosome
What cardiac condition is most associated with Turners?
Aortic Coarctation
What are the signs of aortic coarctation before subclavian split?
RR delay
What are the signs of aortic coarctation after subclavian split?
RF delay
Treatment of aortic coarctation?
Give prostaglandins to reopen the ductus arteriosus
Then surgery
What are the characteristics of turners?
Short Lymphoedema Increased carrying angle Facies Neck fold Underdeveloped genitalia Brown nevi
What treatment can be done for turners?
Some hormonal therapy exists
What is DiGeorge syndrome?
22q11 deletion syndrome
What heart defect is associated with DiGeorge syndrome?
Tetralogy of fallot
What is the tetralogy of fallot?
Pulmonary stenosis
VSD
Overriding aorta
Right ventricular hypertrophy
What is the acronym of symptoms of DiGeorge?
CATCH 22
What is CATCH 22?
C - cleft palate A - abnormal facies T - thymic dysplasia C - calcium (renal problems) H - heart defect 22 - 22q11 deletion
What does the cleft palate of CATCH 22 cause?
Speech problems
What are the abnormal facies in CATCH 22?
Hooded eye
Tubular nose
Small mouth
Broad nose
What does the thymic dysplasia cause in CATCH 22?
T cells non production
What mental health condition is commonly seen in DiGeorge?
Schizophrenia
What is done for Tetralogy of Fallot?
Corrected at 6 months
What gene is affected in Marfans?
Fibrillin 1
What criteria can be used in Marfans/
Ghent criteria 2+ positive findings
What is the Ghent Criteria split into?
CV
EYES
SKELETAL
RESP
CV symptoms of Ghent criteria?
Aortic dilatation/dissection
Mitral valve prolapse
Eye symptoms of Ghent criteria?
Dislocated lens
Skeletal findings of Ghent criteria?
Tall Scoliosis/kyphosis Pectus cavus/excavatum Hand + wrist signs Valgus hindfoot
Resp findings of Ghent criteria?
Pneumothorax
Investigations of Marfans?
Echo
Genetic
MRI spine
Xray - foot
Management of marfans?
Annual echocardiogram
Drugs
- Slow dilatation
- > Lower BP
Surgery
- Prophylactic replacement of aorta
What are the indications for surgery in marfans?
Dilatation >5.5cm or 5% growth per year
What is Williams Syndrome?
Elastin deletion
Where is the elastin gene?
Chromosome 7
What heart condition is affected in Williams Syndrome?
Supra-valvular aortic stenosis
What are other symptoms/signs of williams?
Hypercalcaemia
5th finger cyclodactyly
Abnormal facies
What are the abnormal facies of williams?
Small widespaced teeth
Epicanthal folds
BLUE STARRY EYES!!!!!
What is the Gene affected in Noonan’s syndrome?
PTPN11 gene
What is the inheritence of noonans?
Autosomal dominant
What heart condition is found in noonans?
Pulmonary stenosis
What murmur is caused by a pulmonary stenosis?
Ejection systolic doesn’t radiate to carotids
