Peds - 19 - Genetic Syndromes and Intellectual Disabilities

• request desires

• be offered choices

• be given affection

• have communication acknowledged

• have access to communication devices

• to be informed

• to be communicated with in ways that are meaningful and appropriate

basic communication rights for all persons:

genetic

(genetic/congenital) disorders are caused by errors that occur in meiotic stages of cell division

chromosomal

with genetic disorders, the infant is created with ___________ differences

typical

with congenital disorders, chromosomes are (typical/atypical)

atypical

with genetic disorders, chromosomes are (typical/atypical)

congenital

(genetic/congenital) disorders are caused by errors that occur in the embryonic phase of fetal development

congenital

(genetic/congenital) disorders are when something happens along the way, but cells are normal

genetic

(genetic/congenital) disorders are when every cell in the body has this difference

do not

most pregnancies that have chromosomal abnormalities (do/do not) make it to term

numerical, structural

chromosomal abnormalities can be either _________ or __________

numerical

_________ chromosomal abnormalities are caused by a meiotic error and are not hereditary

structural

__________ chromosomal abnormalities can be hereditary or can happen spontaneously

• trisomy

• monosomy

• triploid

three examples of numerical chromosomal abnormalities:

trisomy

________ is when one pair of chromosomes is actually 3 chromosomes instead of just 2

monosomy

_________ is when one pair of chromosomes is actually 1 chromosome instead of 2

triploid

_________ is when all pairs of chromosomes have 3 chromosomes

46

humans have ______ chromosomes typically

21

down syndrome is a trisomy of chromosome ___

18

edwards syndrome is a trisomy of chromosome ____

klinefelter

an extra X chromosome (XXY) is called __________ syndrome

turner’s

a missing s*x chromosome (X) is called ____________ syndrome

trisomy

the most common type of numerical chromosomal abnormalities is (triploid/trisomy/monosomy)

MANY

there are (many/few) types of structural chromosomal abnormalities

• deletion

• translocation

• inversion

• rearrangement

• mosaicism

types of structural chromosomal abnormalities: (5)

mosaicism

_________ tends to be a more mild presentation, when some cells are affected and some cells aren’t with varying genetic makeup of cells

• autosomal dominant

• autosomal recessive

• X linked

the three types of single gene disorders are:

achondroplasia

_____________ is an autosomal dominant disorder causing short stature; sometimes a more typical trunk and short extremities

one

autosomal dominant disorders require that (one/both) parent/s have the abnormal gene

both

autosomal recessive disorders require that (one/both) parent/s have the abnormal gene

males

X linked gene disorders more commonly affect ______

learning, intellectual

x linked gene disorders can cause ________ and ________ disabilities

• VERY SOCIAL

• more time for developmental milestones

• communication depends on co-occurrence of autism

common traits of people with down syndrome: (3)

3yrs

the average age to start walking for children with down syndrome is _______

• very flexible / low tone

• short stature

• flatter face

• wide set almond eyes

common phenotypes of people with down syndrome: (4)

maternal age

increased __________ increases the chance of down syndrome

• smaller brain/frontal lobe

  • decr executive function and motor planning

• smaller cerebellum & brainstem

  • decr coordination and balance

• wide range and variety of intellectual impairment

• hypotonia

affects on the neurologic system with down syndrome: (4-6)

is not

independent living (is/is not) common for individuals with down syndrome

atlantoaxial instability

children with down syndrome need an x-ray by 18 months to check for _______

eccentric

________ control is hard for individuals with down syndrome, and they have a harder time recruiting muscles

atrial septal defects, patent ductus arteriosus

CV complication that are concurrent with down syndrome are __________ and ___________

decreased

children with down syndrome have a (increased/decreased) response to exercise

adenoids, tonsils

individuals with down syndrome have increased size of ________ and ________ which can cause sinusitis, sleep apnea, and risk for pneumonia

eustachian tubes

the angle of the __________ is different in individuals with down syndrome, leading to hearing issues, chronic ear infections, and vestibular problems

eye muscles

tone doesn’t exclude __________ so individuals with down syndrome often end up needing corrective glasses

hypothyroidism

endocrine effects of down syndrome can cause ____________, presenting with tiredness, irritability, slower thinking, and weight fluctuation

thinner

related to the GI system, swallowing (thinner/thicker) liquids is harder for individuals with down syndrome

females

edwards syndrome has a higher occurrence in (females/males)

microcephaly

edwards syndrome causes craniofacial affects such as ___________, small jaw structure, and asymmetrical facial features

complicated

kids with edwards syndrome are ______ kiddos with a lot of abnormalities

endocrine

with klinefelter syndrome, the ________ system is affected the most

TRUE

T/F: individuals with klinefelter syndrome are infertile

FALSE XXY

T/F: the chromosomal makeup for klinefelter syndrome is XYY

dominant

williams syndrome is autosomal ___________

williams

_________ syndrome causes elf-like characteristics, hypersocial tendencies, growth retardation, and cardiopulmonary complications

• supravalvular aortic stenosis

• mitral valve prolapse

• pulmonary artery stenosis

• pulmonary HTN

some of the CV complications of williams syndrome:

elastin, narrowing

williams syndrome causes the loss of ________ gene affecting CT and the ________ of major blood vessels

williams

individuals with ________ syndrome can see all the different parts but can’t integrate those into a whole picture understanding; causes different style of interaction

paternal

prader willi syndrome is a structural abnormality with part of the 15th chromosome missing (maternal/paternal) information

maternal

angelman syndrome is a structural abnormality with part of the 15th chromosome missing (maternal/paternal) information

prader willis

__________ syndrome has a short lifespan because of extreme food consumption due to never feeling satiated

failure to thrive, constant hunger

prader willis syndrome causes __________ in infant feeding, but then __________ in childhood

hypotonia, intellectual delays, language impairments

angelman syndrome causes ________, ________, and _______ that has severe psychosocial impacts on families

do not (mute)

kids with angelman syndrome usually (do/do not) talk

contractures

due to low tone, kids with angelman syndrome can develop _________ in late adolescence

fragile x

__________ syndrome more commonly affects males and leads to autism-like behavior and cognitive development

• long narrow face

• low set and large ears

• flat feet

physical presentations of fragile x syndrome: (3)

TRUE

T/F: prader willi syndrome and angelman syndrome affect both males and females

rett

_________ syndrome presents with typical development until toddlerhood, and then regression/degeneration to severe neurological impairments and the inability to speak, walk, eat, and breath

FALSE - ONLY FEMALES (males incompatible with life)

T/F: rett syndrome affects males

developmental disabilities

_____________ are a broad group of conditions with impairments in physical, learning, language, or behavior and have impact through child devleopment and persist for a lifetime

shaken baby

_________ can cause mild tbi in babies

go over the ASD and DCD fact sheets

go over the ASD and DCD fact sheets