VCU DPT - Lifespan 1 (Genetic Syndromes - Trisomy and Monosomy)

down syndrome has a(n) __________ chromosome at the _____ pair

trisomy or monosomy?

extra, 21

trisomy

does down syndrome have a relationship with maternal age?

yes

older mother is, more likely to have a child with down syndrome

down syndrome development occurs at the ___________ division

1st or 2nd meiotic

is down syndrome a common type of trisomy?

most common type

with down syndrome, the neurological system is impacted in the following ways....

a) how is brain size/structure changed?

b) change in size to cerebellum and brainstem?

c) structural differences in the dendtritic spines of _____________

a) smaller, less convolutions (esp frontal lobe)

b) both smaller

c) pyramidal neurons

what lobe is affected most with down syndrome? impacts of this?

frontal lobe- fewer convolutions than typical

may lack some motor planning and executive function

with down syndrome, the neurological system is impacted in the following ways....

d) __________ neurons in hippocampus

e) _________ myelination of neurons in cortex and cerebellum

d) decr

e) decr

what is the impact of cerebellum changes with people with down syndrome

cerebellum is smaller

less coordination, balance due to a not as powerful 'mechanic of movement'

with down syndrome, the neurological system is impacted in the following ways....

f) relationship with Alzheimer neurofibrillary tangles with age

g) t/f: may experience intellectual delays?

h) adaptive behavior _________

i) ___(hypo/hyper)_____tonia

f) increased

- higher prevalence of Alz, with earlier onset

g) t - wide range of presentations though

h) delays

i) hypo

explain relationship of Alzheimer neurofibrillary tangles with age AND people with down syndrome

increased prevalence of these tangles at an age compared with a typical person

leads to higher rates of Alzheimer diagnosis

t/f: people with down syndrome at higher risk of Alzheimer's

if TRUE: why

if FALSE: why

T

increased Alzheimer neurofibrillary tangles with age

name some MSK implications of down syndrome (4)

joint laxity

- esp atlanto-axial

muscle weakness

coordiation challenges

compensation with increased co-contraction to stabilize

the following are ____________________ with down syndrome:

joint laxity

- esp atlanto-axial

muscle weakness

coordiation challenges

compensation with increased co-contraction to stabilize

MSK implications

with down syndrome, some MSK implications are:

a) joint _________ (esp which one)

b) muscle ____________

c) coordination __________

d) compensation of balance troubles with WHAT

a) laxity; atllanto axial

b) weakness

c) challenges

d) increased con-contraction to stabilize

in children with down syndrome, they have joint laxity. is there one joint in particular that is worrying that gets unstable?

YEs

atlanto-axial

children with down syndrome have muscle weakness, resulting from _____________

- can PT help with this?

low tone

yes- do not grow up strong and challenged like other kids so have the weakness, but PT can help make a difference here

what is a compensation children with down syndrome have for balance challenges?

implication of this?

they have increased co-contraction

fatigued! muscles always working really hard

what are two common conditions a child with down syndrome might have impacting their cardiovascular system

ASD (i think atrial septal defect) - 60%!!! thats a lot

PDA (patent ductus arteriosus)

how might the common conditions a child with down syndrome might have on their cardiovascular system (ex: ASD, PDA) impact their response to exercise

their heart rate increases faster

their heart rate increases to a lower max

so get to their max at a faster rate, which is already lower than a normal child

- have to work really hard, and at higher intensities sooner!

compared to a typical child, in response to exercise a child with down syndrome's heart rate may...

DO WHAT TWO THINGS

what does this mean

increase faster

increase to a lower max

it means they get to max/near max HR a lot quicker and earlier, so they work really hard and can limit the amount of exercise they are able to perform

these are complications of the ________ system with children who have down syndrome:

chronic URI and sinusitis

prone to pneumonia

sleep apnea

tone, size of adenoids and tonsils

respiratory

children with down syndrome ____(are/are not)____ at higher risk for chronic upper respiratory and sinus infections

if ARE, why

if ARE NOT, what else are at higher risk for instead

ARE

due to the alignment of drainage ducts in ears not fully changing to allow drainage

what are impacts of chronic upper respiratory infections and sinus infections on balance/vestibular

these are chronic ear infections which impact the entire labrinyth

chronic infections in the ear will impact the child as they learn balance!

are ears impacted with down syndrome?

name some examples if yes

say why, chromosomally, it is not if no

YES

external ear stenosis

angle of eustachian tubes

chronic ear infections

hearing loss

vestibular problems

explain how angle of eustachian tubes is impacted with down syndrome

it does not change as much as a typical child's does, leading to less drainage and a higher risk of ear infections

hearing loss for children with down syndrome...

is it congenital? in response to infections?

yes, BOTH

are children with down syndrome's eyes impacted?

YES

may need corrective glasses

t/f: children with down syndromes eye's might...

a) need corrective glasses

b) cataracts

c) blocked tear ducts

d) strabismus

T

what is a huge way the endocrine system is impacted with down syndrome

hypothyroidism

t/f: _____________ is most common endocrine disorder present in individuals with down syndrome

- 40-60%

hypothyroidism

what are some symptoms of hyporthyroidism (4)

tiredness

irritability

slow thinking

weight fluctuation

these are the symptoms of ____________:

tiredness

irritability

slow thinking

weight fluctuation

hypothyroidism

name some presentation indications of hypothyroidism (3)

enlarged tongue

constipation

poor circulation

these are _________ of hypothyroidism:

enlarged tongue

constipation

poor circulation

indications

when do you test a child with down syndrome for hypothyroidism

at birth, every 2 years after

what are some common GI system complications in individuals with down syndrome (5)

reflux

constipation

feeding challenges

celiac disease

obesity

t/f: 60% of children with down syndrome have obesity

T

t/f: if a child has down syndrome, at higher risk for:

imperforated anus

hirschsprung disease

duodenal obstruction

tracheoesophageal fistula

T

these are rare though

in terms of neuromuscular system, children with down syndrome show:

a) _____tonia

b) ______ muscle force production

c) ____ postural reactions

d) __________ reaction time

e) motor delays _______ with age

a) hyper

b) low

c) slow

d) slow

e) increasing

in terms of musculoskeletal system, children with down syndrome show:

a) joint ________

b) ligamentous _________

c) foot __________

d) scoliosis?

e) what joint especially is troublesome

a) hyperflexibility

b) ligamentous laxity

c) foot deformities

d) scoliosis

e) atlanto-axial joint

in terms of cardiopulm system, children with down syndrome show:

a) _______ heart disease

b) _____ hypoplasia and pulmonary hypoplasia

c) ___ cardiopulm fitness

d) _________ lung volumes

a) congenital

b) lung

c) low

d) decreased

trisomy 18 is _______________

edwards syndrome

is edwards syndrome common

no it is rare

second most common trisomy behind down syndrome, but still really rare

in edwards syndrome, who has higher prevelance? males or females

who has greater fetal loss

females (3:2)

males die greater in fetal

is there high survival rate past the first year for edwards syndrome?

only 5-10%

with edwards syndrome:

impact on neuro system? (1)

severe malformation/underdeveloped regions

with edwards syndrome:

describe the craniofacial features (3)

microcephaly (small head)

small jaw structure (impact on feeding)

asymmetric facial features

with edwards syndrome:

significant skeletal impacts (4)

growth retardation

short neck

sternum

hip dislocation

with edwards syndrome:

cardiovascular impacts (4)

Atrial Septal Defect

Ventricular septal defect

Patent Ductus arteriosus

Tetralogy of Fallot

with edwards syndrome:

pulmonary impacts (3)

hypoplasia

apnea

HTN

with edwards syndrome:

GI impacts (1)

significant structural abnormalities/stenosis/underdevelopment

with edwards syndrome:

impacts to the genitourinary system

misshapen kidney (horsehoe)

small genital development

with edwards syndrome, do all of the systems interplay?

YES

- the risk of hospital admission is high as result

describe the chromosomal pattern that leads to klinefelter syndrome

XXY (vs either XX or XY)

you have 47 chromosomes

what system is LARGELY affected with klinefelter syndrome

endocrine

what are some hormonal/characteristic features of klinefelter syndrome

low testosterone

smaller testes/penis

breast growth

less facial hair

a person with _____________ syndrome would result in an underdeveloped male system, and show puberty aspects of females

klinefelter

adults with ______________ are infertile, have shrinking testes, and have less sexual interest

klinefelter

t/f for each system:

klinefelters has impairments with...

a) mild neuro cog deficit

b) mild hypotonia and developmental delay

c) muscle weakness

TRUE TO ALL

a patient has only 'X' chromosome instead of "XY" or "XX"

what do they have

turner syndrome

number of chromsomes a patient with Turner syndrome has?

45

only have an "x" instead of "xy" or "xx"

endocrine impacts of turner syndrome

delayed puberty and skeletal maturity

neuro impacts of turner syndrome

usually normal intellect

cardio impacts of turner syndrome

aortic arch aneurysm, ASD

name some physical features of turner syndrome

broad, short, webbed neck

short sternum

low set ears

do people with turner syndrome have hearing impairments?

yes

these are MSK issues of _________ syndrome

genu valgum, distal femoral epiphysis enlargement, irregular proximal tibial epiphysis, small mandible, 4th and 5th carpals small

turner

DELAYED SKELETAL MATURITY

name the syndrome associated with the symptoms from this system: endocrine

a) delayed puberty and skeletal maturation

b) low testosterone, smaller testes and penis, breast growth, less facial hair

c) hypothyroidism (tired, irritable, weight fluctuation)

a) turner

b) klinefelter

c) down syndrome

EDWARDS NOT LISTED

name the syndrome associated with the symptoms from this system: neurological

a) smaller brain size, cerebellum, brainstem. intellectual delays, more Alz tangles, lack motor planning and coordination

b) severe malformations and underdeveloped regions

c) usually normal intellect (maybe ADHD)

d) mild neurocog deficits, developemental delays

a) down syndrome

b) edwards syndrome

c) turner syndrome

d) klinefelter syndrome

name the syndrome associated with the symptoms from this system: MSK

a) severe growth retardation, small jaw, microcephaly, asymm facial features, hip dislocation/arthrogryposis

b) genu valgum, changes to proximal tibial and distal femoral epiphysis, small mandible/4th and 5th carpals

c) joint laxity (AA), muscle weakness (hypotonia), scolisosis

d) muscle weakness

a) edwards

b) turner

c) down syndrome

d) klinefelter

name the syndrome associated with the symptoms from this system: physical presentation

a) breast growth, less facial hair

b) broad/short/webbed neck, short sternum, low set ears

c) flatter and wider face, almond shaped eyes wider set apart

d) microcephaly, small jaw

a) klinefelter

b) turner

c) down syndrome

d) edwards

name the syndrome associated with the symptoms from this system: respiratory

a) hypoplasia, apnea, HTN

b) chronic infections, low fitness, lung hypoplasia, decreased lung volume

a) edwards

b) down syndrome

NOTHING ON TURNER OR KLINEFELTER

name the syndrome associated with the symptoms from this system: GI

a) significant strucutral abnormalities

b) reflux, constipation, feeding challenges, celiac disease, obesity

a) edwards

b) down syndrome

NOTHING ON TURNER OR KLINEFELTER

name the syndrome associated with the symptoms from this system: cardiovasc

a) congenital heart disease (ASD, PDA), decreased response to exercise (lower HR max, faster rise of HR)

b) aortic arch aneurysm, ASD

c) ASD, VSD, PDA, ToF, HLHS

a) down syndrome

b) turner syndrome

c) edwards syndrome

NOTHING ON KLINEFELTER

name the syndrome associated with the symptoms from this system: other sx

a) horseshoe shaped kidney, high risk of hospital admission

b) infertile, shrinking testes, less sexual interest

c) hearing impairments

d) chronic ear infections and changed angle of eustachain tubes, needs corrective glasses often, extremely social

A) edwards

b) klinefelter

c) turner

d) down syndrome