Milestones upto 5
What are the main functional areas of developmental milestones? (4)
- Gross motor
- Vision and fine motor
- Hearing, speech and language
- Social, emotional and behavioural
What is newborn blood spots used to check for?
Sickle cell
Cystic fibrosis
Hypothyroidism
Inherited metabolic diseases
What does DMD and BMD stand for?
Duchenne muscular dystrophy
Becker muscular dystrophy
What is the most common genetic disease?
Cystic Fibrosis
name of the enzyme that builds new DNA strands during PCR
TAQ polymerase
Give examples of neonatal surveillance
6 – 8-week check by GP
1 – year old check by HV (health visitor)
2 – 2.5-year-old check by HV
What is required for prenatal screening to be ethically valid?
Informed consent, where the patient fully understands the purpose, risks, and limitations of the test
What is the age of onset and the average life expectancy of DMD?
2-5 years
30 year life expectancy
What is the effect of sickel cell in newborns?
Often asymptomatic at birth; at risk of anemia, infections, and pain crises later
Name 4 things which can cause developmental problems
o Genetic syndromes (i.e. trisomy 21)
o Cerebral malformations +/- hydrocephalus
o Congenital infections
o Antenatal insults
o Perinatal hypoxia/hypoglycaemia
o Postnatal meningitis/trauma/metabolic insults
o Deprivation and/or abuse
How does the Abortion Act relate to prenatal screening outcomes?
It allows termination of pregnancy for serious fetal abnormalities, guiding ethical decision-making after positive results
Mutations to what gene causes BMD and DMD? Name the type of mutation and where the gene is it found?
dystrophin gene on the short (p)arm of the X chromosome.
DMD = frame shift mutation
BMD = in-frame deletion
What ultra-sensitive PCR technique can amplify DNA from a single embryonic cell during IVF to test for genetic diseases before implantation?
preimplantation genetic testing (PGT) PCR
Name at least 7 developmental red flags
▪ Regression: Loss of skills that a child previously had
▪ Not fixing and following
▪ Not responding to noise
▪ Abnormal tone
▪ Persistent toe walking
▪ Early hand preference: Using one hand more than the other before around 18 months
▪ No smile at 8wks
▪ Not holding objects at 5 months
▪ Not sitting at 12 months
▪ Not walking at 18 months
▪ Not pointing at objects at 2yrs
How would doctors test a new born baby's intelligence back in the 1800's right after birth?
- They would burn parts of the placenta and interpret the smoke patterns
- Use the baby's shadow against a wall
What are the treatments for DMD? Name 4 of them
Glucocorticoids
Physiotherapy
wheelchairs/walkers
psychological support
ventilation support
Surgery
What is MSUD?
Maple Syrup Urine Disease
Defect in branched-chain amino acid metabolism.
Sweet-smelling urine, poor feeding, lethargy, neurological deterioration if untreated
What is FTT and name all of the causes of FTT
FTT = failure to thrive
▪ Inadequate intake: Poor technique, wrong milk, social issues
▪ Inadequate resorption: Vomiting, gastroesophageal reflux disorder (GORD)
▪ Malabsorption: Cow’s milk protein intolerance (CMPI), CF, short gut
▪ Failure to utilise nutrients: Renal/liver disease, inborn errors of metabolism (IEMs)
▪ Increased requirements: Thyrotoxicosis, CF, chronic infections, malignancy, heart disease
What are all the NSC managed antenatal and newborn screening programmes?
▪ Down's Syndrome Screening (now incorporated into the Foetal Anomaly Screening Programme)
▪ Foetal Anomaly Screening Programme
▪ NHS Screening Programme for Sickle Cell and Thalassaemia Screening Programme
▪ Screening for Infectious Diseases in Pregnancy
▪ Newborn Blood Spot Screening Programme
▪ Newborn Hearing Screening Programme
▪ Newborn and 6-8-week Infant Examination
List 6 symptoms and effects of DMD
clumsiness
inability to keep up with peers due to muscle weakness
Enlargement of calves
weak reflexes
waddling gait
Gower manoeuvre
scoliosis
Cognitive impairment
nocturnal hypoventilation
dysphagia
vomiting
diarrhoea and constipation