Down syndrome Flashcards

Terms

1
Q

Causes of down syndrome

A

trisomy 21, translocation, mosaicism

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2
Q

Chromosomal conditions

A

down syndrome, cri-du-chat syndrome, phenylketonuria

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3
Q

A rare disorder of the bowel (colon) which leads to constipation

A

Hirschsprung’s disease

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4
Q

Dry mouth

A

Xerostomia

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5
Q

Increased mobility of atlanto-axial joint

A

Atlanto-axial stability

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6
Q

A chart that allows health professionals to plot and measure a child’s height and weight from birth to young adulthood.

A

RCPCH Growth charts

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7
Q

The chart is mainly intended to assess the growth of children and young people which includes guidance on the onset and progression of puberty, BMI centile lookup, adult height predictor and a mid-parental height comparator.

A

RCPCH growth charts

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8
Q

Supports the young person and their family to plan for the future, by providing them with information about what they can expect.

A

Transition assessments

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