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Batshaw Ch 18: Down Syndrome
Terms in this set (41)
In what year did researchers identified the underlying chromosomal abnormality (chromosome 21) that causes DS?
From 1979 to 2003, the prevalence of DS births increased from ___ to ____ per 10,000 births in the US?
9.3 to 11.8
What is the chance of having a child with DS at age 20?
1 in 1600
What is is the chance of having a child with DS at age of 45?
1 in 50
What are the three types of chromosomal abnormalities that can lead to DS?
1. Trisomony 21
Which type of DS is the highest (95%)?
Which type of DS is the least common (1%)?
Translocation DS involves the attachment to which chromosomes?
14, 21, or 22
Which type of children with DS score higher on IQ tests?
Integrated screening that includes a combination of first and second trimester screening has a detection rate of....?
What are some common characteristics of DS at birth?
-Brushfield spots (colored speckles in the iris of the eyes)
-Short ear length
-Increased neck skinfold
-Congenital heart disease
-Widely spaced first toes
What percentage of DS infants have congenital heart disease?
What is the most common congenital heart disease for infants with DS?
Ventricular septal defect
Deficits in visual acuity occur ___% to ____% of DS cases.
What are common eye problems in DS?
-Amblyopia ("lazy eye")
-Strabismus (crossed eyes)
-Blepharitis (inflammation of the eyelids)
-Tear duct obstruction
-Ptosis (droopy eyelids)
What is the occurrence of hearing loss in children with DS?
as many as 2/3
Hearing loss in children with DS can be?
conductive, sensorineural, or combined
What type of endocrine abnormality can be found newborns with DS?
T/F: Children with DS are at great risk for becoming overweight?
What is the average height in males with DS? In females?
Males: 5 feet
Females: 4.5 feet
What kind of orthopedic problems do children with DS have?
-Antlantoaxial subluxation (partial dislocation of the upper spine)
-Pes planus (flat feet)
What is the most common orthopedic problem in children with DS? What is the percentage?
Antlantoaxial sublixation; 15%
What is the most common dental problems in children with DS?
Peridontal disease (disease of tissue surrounding teeth)
T/F: Cavities occur less often in children with DS?
What type of gastrointestinal malformations are found in children with DS?
-stenosis or atresia of the duodenum
-imperforate (closed) anus
-Hirschsprung disease (enlarged colon)
Gastrointestinal malformations present with what kind of symptoms in the newborn period?
Poor feeding, vomiting, or aspiration pneumonia
Epilepsy occurs in ____% of indviduals with DS.
What is the most common malignancy in individuals with DS?
Leukemias account for ____% in children with DS under the age of 15.
What is the most common type of Leukemia for children with DS?
Acute lymphoblastic leukemia (ALL)
By puberty, half or more of children with DS will experience what kind of skin conditions?
-Cheilitis (inflammation of the lips)
-Ichthyosis (dry and scaly skin)
-Onychomycosis (fungal infection of the nails)
-Seborrheic dermatitis (dandruff)
-Xerosis (dryness of eyes)
Most children with DS do not sit up until ____ months.
Most children with DS do not walk until ____ months.
Children with DS often do not speak their first word until ___ months.
T/F: Individuals with DS are at increased risk for experiencing behavioral, emotional, and psychiatric problems but compared with other children with intellectual disabilities, children with DS are at decreased risk.
What percentage of children with DS are diagnosed with ADHD?
What percentage of children with DS are diagnosed with Autism?
T/F: 75% of individuals with DS who live beyond 65 years of age meet the criteria for dementia.
At least ____% of 3-year-olds with DS have evidence of obstructive sleep apnea when evaluated by polysomnograms (sleep study)
T/F: Most frequently, children with DS have strengths in visual motor skills and weakness in verbal short-term memory?
What is the life expectancy estimate for individuals with DS?
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