Please enable JavaScript.
Coggle requires JavaScript to display documents.
Fragile X Syndrome (behavioural characteristics (ID (EF, STM, visual…
Fragile X Syndrome
behavioural characteristics
ID
EF
STM
visual memory
visuo-spatial skills
language delays and articulation difficulties
outcomes weakly associated w/ FMRP variation
aggression: tantrums
psychiatric problems
mood instabiltiy
ADHD co-morbidity
obsessive-type symptoms: hand flapping/biting, perseveration
hypersensitivity to visual, auditory, tactile, and olfactory stimuli
social anxiety
shyness
poor eye contact/gaze aversion
slow to initiate interaction
still interested in social interaction and have great empathy
30% have ASD symptoms
greater language difficuly
lower IQ
individuals carrying the permutation
milder form of same symptoms
later tremor/ataxia
20% premature menopause
likely to pass on full mutation
beneficial genetic counselling
genetics/prevalence
inherited
moms also have some symptoms
when mom carries the FraX chromosome each child has 50% of inheritance
1/4k boys
1/6 girls
less severe bc 2 X chromosmes
genes
carrier has 55-200 CGG repeats -- 200+ in child = mutation
FMR1 gene is silenced = doesn't produce FMRP protein
dose effect--physical pheontype related to extent of FMRP deficit
too much or too little protein has adverse effects
improper develoment of neuronal circuts @ synapse
physical and psych development
effects are experience and context dependent
quality of home environment
cultur/arts
parenting approaches
space for play
can affect cog + behaviour regardless of FMRP deficit, SES, and parent psych status
if mothers also have social difficulty then child doesn't get successful reciprocal interactions
child behaviours also impede reciprocal interactions = poorer linguistic outcomes
symptoms
physical features
large protruding ears
long face
high arched palate
double jointed fingers
flat feet
soft skin
lg testes after puberty
hypotonia