PBL6 - Developmental Delay And Diability Flashcards
Physical developments at 2 years:(3)
Climbs onto chair
Kicks and throws a ball
Feeds themselves
Physical developments at 3 years: (3)
Holds crayons with finger
Gets dressed with help
Jumps over low objects
Social Developments at 1 year: (2)
Wary of strangers
Explores when parent is near
Social developments 2 years: (2)
Begins to share and cooperate when playing
Seeks comfort when upset
Social developments when 3 years: (2)
Plays simple make believe games
Doesn’t like sharing toys
Cognitive developments at 1 year: (3)
Bangs two objects together
Responds to own name
Shows interest in picture books
Cognitive developments at 2 years: (3)
Recognises self in mirror
Point to objects when names
Selects games and puts them away
Cognitive developments at 3 years: (3)
Begins to count with numbers
Recognises similarities and differences
Can follow two or more simple directions
Language development at 1 year: (3)
Says words like mama, dada
Waves goodbye
Imitates hand clapping
Language development for 2 year olds: (3)
Follows simple commands
Says first name
Begins to use two word sentences
Language development for 3 year olds: (3)
Asks lots of questions
Copies words and actions
Sings songs
Down syndrome types &% (2)
Translocation trisomy - 5% (boy in scenario has)
Non-disjunction trisomy - 95%
Mother is translocation carrier, the recurrence risk is…
Father is translocation carrier, the recurrence risk is…
Mother 10%
Father 1-5%
Mother = balanced translocation (3)
One normal 14
One normal 21
One 14/21 taking the place of 2 separate 14 and 21 chromosomes
(Therefore only 45 chromosomes)
Meiosis options from mother: (gamete) (3)
21 and 14
14/21 translocation alone
14/21 + 21
Chromosome 21 is very
Small
Foetus options: (4)
2 X 21 and 14 (normal)
21, 14 and 14/21 (translocation)
2 X 21, 14/21 (trisomy 21)
Monosomy 21 - non-viable
Risk of Down syndrome if father is the carrier?
Risk of Down syndrome if mother is the carrier?
Father - 3-5%
Mother - 10-15%
% children born with congenital heart failure with downs?
60%
Congenital association with downs: (17) APBDO HHHAAIII CEVOO
AV canal defect, Pulmonary hypertension Bowel atresia Duodenal atresia Oesophageal atresia Hirschsprung's disease Hypotonia Hypothyroidism Acute leukaemia - myeloblastic Atlanto-occipital instability Increased incidence of infections Increased mortality IgG2 deficiency Chest infections Early onset Alzhiemers Visual problems - cataracts, nystagmus, refractive errors Otitis media Obesity prone
Mortality are of downs in 1st year of life:
1%
Downs have an increased risk of developing Alzhiemers by:
50-60years old
50% develop Alzheimer’s
Otitis media =
Sticky Mucous in the middle ear - leads to conductive deafness
Management of glue ear: (2)
Watchful waiting
Drainage using grommets
Multi disciplinary team provide information to: (6)
Provide information to parents Developmental assessed Non medical therapies (e.g. Physiotherapist, occupational therapist) Medical assessment and treatment Liaison with local education authority Advise on assessing social support
Sign language =
Makaton
Down’s syndrome association -
Parent group for children with downs or other disabilities
Physical developments at 1 year: (3)
Sits without support
Hold biscuit
Crawls