Development Flashcards
What is silver russell syndrome
Affects chromosome 7 and 11
Prenatal and postnatal growth retardation
Characteristic facial appearance: small triangular face
Small incurved fifth fingers
What is Beckwith-Wiedemann syndrome
Dysregulation of imprinting control regions on chromosome 11 Overgrowth Cancer predisposition Macrosomia Macroglossia Acelerated bone age Enlargement of kidneys Increased incidence in IVF conceptions
What is ectrodactyly ecteroderam dysplasia
P63 - problem with formaiton of ectodermal dependent layers
What is Grieg syndrome
GLI3 - physical abnormalities affecting fingers and toes
What is Apert syndrome
FGFR2 - preamture fusion of certain bones
What are the signs for Down’s
Flat nasal bridge, up slanting palpebrral fissure, epicanthic folds, protruding tongue, single palmer crease
What are the signs of Edward
Micrognathia, prominet occiput, clenched overlapping fingers, prominent heel and rocker bottom feet
What are the signs of Patau
Cleft lip, holoprocencephaly, postaxial polydactyly
What is Williams Syndrome
Del17q11
Mild-moderate developmental disorder
heart and blood vessel problems
What is Noonan syndrome
Autosomal dominant - caused by mutations in the RAS/mitogen-activated protein kinase (MAPK) pathway
Short stature
Wide neck
Heart defect
What are examples of X linked recessive
1 in 2 risk for male
Haemophilia
Duchenne musuclar dystrophy
What is the risk for abnormality with nuchal translucency thickness over 5.5mm
80%
What is alpha foeto protein used for
Severity of neural tube defect
AFP reaches maternal serum across placenta
Levels change with gestation (lwoer in 2nd than 1st trimester)
What are the US signs of spina bifida
Lemon sign, banana sign
Difficult to visualise until 16-22 weeks
Describe amniocentesis
16 weeks gestation
10-20 mls of amntioic fluid transabdo udner USS
Cells from amnion, foetal skin, urinary tract
Cultured for 2 weeks
0.5% miscarriage
Describe chorionic villus sampling
After 11 weeks. chromosome analysis within 24 hours. 1-2 risk miscarriage
What are the two major processes of brain development
Process of addition: myelination and dendritic aborisation
Process of regression: elinmination of redudant elements
What are the four domains of child development
Gross motor
Fine motor and vision
Hearing and language
Social and emotional
What happens in infancy
Attachment, maturation of sensory, perceptual and motor functions and understand obejct through sense
What happens in early childhood
Locomotion, fantasy play, language development, sex role identification and group play
What happens in middle childhood
Friendship, skill learning, self-evaluation, team play, udnerstand cause and effect
What happens in adolescence
Physical maturation, emotional development, peer group and sexual relationships, understand abstract thinking
When are children learning about 3 new words a month
12-18 months
How many words do infants know at 18
22
How many words do children know at 6
10,000 - 5 new words a day
When do infants learn their first words
9-13 months
When do babies demonstrate a preferene for faces
4-5 months
When do children develop appropriate selective attention
6 years
What are the 4 concepts of the Piaget model
Scheme - an internal cognitive structure which provides the procedure to use in specific circumstances
Assimilation - a process of using a scheme to make sense of event or experience
Accommodation - changing scheme as result of new information
Equilibration - a process of balancing assimilation and accommodation to create scheme that fit environment
What happens in stage 1 of the Piaget model
Sensorimotor (0-2 years)
Inital reflexes via sensory motor schema
Child interacts with environment and manipulates objects
Understanding of object permanence
What happens in stage 2 of the Piaget model
Preoperational (2-7 years)
Internal represenation of concrete objects and situations
Ego centric
Reasoning dominated by perception
What happens in stage 3 of the Piaget model
Concrete oeprations (6-11)
Reasoning invovles more than one salient feature (conservation)
Logcal reasoning can only be applied to objects that are real or can be seen
What happens in stage 4 of the Piaget model
Formal operations (11+)
Can think logically about potential events or abstract ideas
Can test hypotheses about hyptohetcial events
When do children develop separation anxiety
8 months
When do children develop social referencing
10 months
When does the need for physical proximity lessen
2-4 years
When is mum’s availablity enough
6-7 years
When is the peak of attachment period
11-18 months
When can a child reach out for toys
4 months
When can a child use palmar grasp
6 months
When can a child use pincer grasp
10 months
When can a child do to and fro scribbles
15 months
When can a child draw a circle
3 years
When can a child draw a square
4 years
When can a child draw a triangle
5 years
When can a child share toys
3 years
