Developmental Differences Flashcards

1
Q

Rett syndrome

A

mutation of MECP2 gene on x chromes
4 stages of motor decline
Stage 2 is when skills start going away

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2
Q

Symptoms of rest syndrome

A

hand stereotypes
emotional dysregulation
hypotonia that may fluctuate

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3
Q

Rett syndrome strengths

A

cognition is often not impaired

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4
Q

Fragile X syndrome

A

genetic x-linked dominant genetic disorder
More common In males

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5
Q

Fragile X symptoms

A

low tone
hypermobile joints
prominent ears
long narrow face
hyperarousal
tactile defensiveness
decreased executive function

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6
Q

Fragile X strengths

A

empathetic
visual spatial
vocabulary

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7
Q

Down syndrome

A

chromosome 21
three types: trisomy, translocation and mosaic

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8
Q

Down syndrome symptoms

A

low tone
short
decreased cognition
delayed motor skills
often low sensory registration

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9
Q

Down syndrome strengths

A

strong emotional skills
charming
string visual memory skills

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10
Q

Williams syndrome

A

genetic disorder
7th chromosome

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11
Q

Williams syndrome symptoms

A

cardiovascular difficulties
hypersensitive to sound
decreased cognition
impulsive
joint abnormality
Comorbidities: ADHD , GAD

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12
Q

Williams syndrome strengths

A

long term memory

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13
Q

Nuerofibromatosis

A

mutations in the gene that controls the production of neurofibromin
on chromosome 17

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14
Q

Neurofibrotosis symptoms

A

neurofibromas throughout the body
bone deformities
macrocephaly
cardiovascular and neurological concerns
cognition
pain

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15
Q

Prader Willi

A

genetic- chromosome 15

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16
Q

Prader Willi Symptoms

A

reward seeking- food hoarding
hypotonia
short
small hands
low regiatrtaion-interoception
decreased motor skills
comorbidities AD and OCD

17
Q

Prader Willi strengths

A

visual spatial
long term memory

18
Q

FASD

A

spectrum disorder based on alcohol consumption during pregnancy

19
Q

FASD symptoms

A

Neurobehavioral- poor self and emotional regulation
Decreased cognition
poor sleep
impulsive
often ADHD

20
Q

FASD Strengths

A

creative
musical
artistic

21
Q

Developmental coordination disorder

A

neurodevelopment diagnosis
dyspraxia/ motor planning

22
Q

DCD symptoms

A

difficulty motor planning in all occupations
messy eaters
often fatugues
Lower tone and increased effort for motor planning
possibly occurring with ADHD and ASD

23
Q

Angelmans syndrome

A

Genetically caused by deficiency of ubiquitin-protein ligase 3A gene (UBE3A) in the CNS

24
Q

Angelmans symptoms

A

distinctive gait- marionette like toe out gait
attraction to water
motor and cognitive delays within first year
sleep, feeding, ADL’s and IADL challengesAn

25
Q

Angelman strengths

A

long-term memory