1: Neurology + Development - Down's Syndrome, Cerebral Palsy, Status Epilepticus, Febrile Convlusions, Seizures, Seizure Disorders Flashcards
What is downs syndrome
Where there are three copies of chromosome 21 (Trisomy 21)
What is the most common chromosomal aberration
Downs Syndrome
What is the main risk factor for Down’s syndrome
Maternal Age
What is the risk of DS at maternal age 20y
1:1500
What is the risk of DS at maternal age 30y
1:800
What is the risk of DS at maternal age 40y
1:100
What is the risk of DS at maternal age 45y
1:50
What is the risk of DS at maternal age 50y
1:6
What is the most common cause of trisomy 21
Meiosis Non-Dysfunction
What is non-dysfunction
Failure of homologous chromosomes to separate during meiosis
Where does the majority of non-dysfunction occur
During meiosis I
What is the risk of recurrence in future pregnancies if DS is due to non-dysjunction
<1:100 if <35
What is a balanced robertsonian translocation
- Where the long arm of chromosome 14 combines with long arm of chromosome 21. And, short-arm is deleted
- Individuals possess only 45 chromosomes but have all the genetic material to give a normal phenotype
What is an unbalanced translocation
- Where individuals inherited one ‘balanced translocated’ chromosome and one normal chromosome
- This gives three copies of chromosome 46XY ± 21 ± t(21:14)
What % of DS is due to unbalanced translocation
5
What is mosaicism
Where there are two cell lines present. In DS, will be one normal cell line and one DS cell line. Phenotype depends on balance.
What are two risk factors for DS
- Maternal age
- First-degree relative with DS
How will a foetus with DS present on 10-13+6W scan
Raised nuchal translucency
What are the 4 heart structural abnormalities seen in DS and their frequency
- AVSD (40%)
- VSD (30%)
- TOF (5%)
- Patent ductus arteriosus (5%)
What are the 2 GI tract abnormalities seen on anomaly scan in foetus with DS
- Hyperechogenic bowel
- Duodenal atresia
What are the craniofacial dysmorphic features of a child with DS
Eyes:
Upward slanting
Large epicanthic folds
Brushfield spots
Nose:
Broad nose
Ears: Small round low-set ears
Mouth: small oral cavity, high arched palate
What are brushfield spots
aggregation of connective tissue in the peripheral iris
In the extremities, what are 5 features of DS
- Single palmar crease
- Sandal gap
- Increase risk inguinal hernia
- Increase risk umbilical hernia
- Atlanto-axial instability
What is the sandal gap
Increased gap between big toe and second toe
What are two GI tract features seen in neonates with DS
Hirschsprungs
Imperforate anus
What is the GU features seen in neonates with DS
Cryptochidism
What are the aesthetic features of an older child with DS
Short stature
Obese
What are cognitive features of a child with DS
Lower IQ
What are the haematological symptoms of a child with DS
ALL
What are the endocrine features in DS
Hypothyroidism
What are the GU features in an adult with DS
Subfertility in females
Infertility in males
What are the respiratory features of someone with DS
- Recurrent infections and hearing impairment: glue ear
- OSA
What are the long-term neurological symptoms of someone with DS
Increased risk of pre-mature Alzheimer’s disease
What are the neonatal developmental features of a baby with DS
- Hypotonia
- Developmental delay
What are the two main types of screening test used for DS
- Combined Test
2. Quadruple test
When is the combined test performed
10-13W+6
When is the quadruple test performed
15-20W
What are the four components of the combined test
- PAPP-A
- Nuchal Translucency
- serum bHCG
- Maternal Age
What do low levels of PAPP-A reflect
Poor Placentation
What is a low level of PAPP-A
<0.4
If a monochorionic multiple pregnancy how is the risk of DS calculated
Per pregnancy
If a dichorionic multiple pregnancy how is the risk of DS calculate
Per foetus
Explain what will happen at the end of screening
Mum is given a score of ‘high risk >1:150’ or low risk ‘<1:150’.
What are the two non-invasive pre-natal testing methods for DS
- Amniocentesis
- Chorionic Villus Sampling
What is SAFE
Checking karyotype of foetal blood cells in maternal blood
If SAFE test is positive what does this mean
It is still a screening test and would indicate need for diagnostic test
Who is the IONA test offered to for free
If high-risk of DS. More than 1:150.
If IONA test is positive what does this mean
It is still a screening test and would indicate need for diagnostic test
What are the two methods of diagnostic testing for DS
- Chorionic Villus Sampling
2. Amniocentesis
What gestation can chorionic villus sampling be performed
First trimester.
10-13W
Explain the procedure of CVS
Needle placed trans-abdominally to take trans-placental sample
What is performed on sample from CVS
- Karyotype (2d)
- FISH (3W)
What is the advantage of CVS
Within termination limits
What is the disadvantage of CVS
- 2%. miscarriage risk
- Infection risk
- Placental mosaicism
When can amniocentesis be performed
Second trimster 15-20W
Explain the procedure for amniocentesis
Needle placed through abdomen to take sample from baby.
What is performed on amniocentesis
- Karyotype (3W)
- FISH and PCR (3d)
What is the advantage of amniocentesis
Miscarriage rate 1% - lower than CVS
What is the disadvantage of amniocentesis
Miscarriage rate (1%)
What 4 post-natal tests re recommended for DS baby
- Karyotype
- ECHO
- Hip US
- Audiology
What is the average prognosis of DS
55y
What do the majority of people with DS develop
early-onset Alzhiemer’s disease
What is the aim of treatment for DS
Supportive. No curative treatment.
What should be offered to DS for management
- Paediatrician follow-up
- Physio to improve tone
What follow-up is recommended in DS patients
- Annual TFTs
- Audiology and Ophthalmology every 1-2Y
What is cerebral palsy
Chronic neurodevelopment disorder that presents with abnormalities in movement and posture that start early and continue through life
How can the aetiology of cerebral palsy be divided
Cerebral palsy is caused by repeated brain insult prior to 2-years. Its aetiology can be divided into antenatal, perinatal and postnatal.
What percentage of cerebral palsy is antenatal in origin
80%
What are three causes of antenatal cerebral palsy
- TORCH Infections
- Cerebral malformation
- Placental Insufficiency
What are the TORCH infections
Toxoplasmosis 'Other' Rubella CMV Herpes
What percentage of cerebral palsy is peri-natal in origin
10%
What causes peri-natal cerebral palsy
Birth asphyxia - resulting in hypoxic-ischaemic injury and encephalopathy
What percentage of cerebral palsy is post-natal in origin
10%
What causes post-natal cerebral palsy
- IV haemorrhage
- Trauma
- Kernicterus
- Meningitis
What are two risk factors for cerebral palsy
Low birth weight
Premature!
In which population is the incidence of cerebral palsy higher
Those born 22-27W
How is cerebral palsy categorised
It is categorised by the type of movements present into two main categories:
- Spastic CP
- Non-Spastic CP
What are the two categories of cerebral palsy
- Spastic Cerebral Palsy
2. Non-Spastic Cerebral Palsy
What percentage of cerebral palsy is spastic
70%
What percentage of cerebral palsy is non-spastic
30%
What are the two-types of non-spastic cerebral palsy
- Ataxic
2. Dyskinetic
What is dyskinetic non-spastic cerebral palsy
Presence of involuntary movements. Including choreoarthroid movements and dystonia
How does ataxic cerebral palsy present
Intention tremor
Poor balance
Poor co-ordination
How will individuals with spastic cerebral palsy present in general
- Hypotonic at birth until 6-12 months when they become spastic
what reflexes may remain in spastic cerebral palsy
Primitive reflexes remain
Upgoing Plantar Reflex
what type of gait may be present in cerebral palsy
- Tip toe walking
- Scissoring gait due to weakness in abductors
What are three complications of spastic cerebral palsy
- Hip dislocation
- Scoliosis
- Hearing and visual impairment
What are the three types of spastic cerebral palsy
- Hemiplegic
- Quadriplegic
- Diplegic
What is hemiplegic CP
Weakness in arm and leg on the same side
Are the arms of legs affected more in hemiplegic CP
Arms
How will the arms appear in hemiplegic spastic CP
- Hands in fists
- Pronated
- Hand preference before 12m
What is a classic indictor of hemiplegic CP and why
Hand preference before 12m. In hemiplegic CP, one side will be weak causing the infant to use the other side giving hand preference
How will legs present in hemiplegic CP
Tip toe walk
What is diplegic CP
When all four limbs are affected
Are legs or arms affected more in diplegic CP
Legs
What is quadriplegic CP
When arms and legs are affected
How will quadriplegic CP present early-on
Poor head control!!
What conditions is quadriplegic CP associated with
- Microcephaly
- Intellectual impairment
- Epilepsy
Explain abnormal involuntary movements in non-spastic CP
Worsen with stress and improve with sleep
What percentage of CP is dyskinetic
10%
How will tone present in dyskinetic CP
fluctuating tone leading to abnormal movements
What are three types of movement in dyskinetic CP
- Dystonia
- Chorea
- Athetosis
What is chorea
Non-Repetitive, sudden movements
What is dystonia
Contraction of agonist and antagonist muscles of the proximal limb
What is athetosis
Contraction of agonist and antagonist muscles of the distal limb
What percentage of CP is ataxic hypotonic
10%
How does ataxic hypotonic CP present
Ataxia Intention tremor Hypotonia Poor balance Un co-ordination
What are 7 problems associated with CP
- Epilepsy
- Intellectual disability
- Developmental motor delay
- ADHD
- Squint
- Feeding difficultly
- Joint contractures