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AUTISM SPECTRUM DISORDERS
group of developmental disabilities
3 years old
ASD is presumably present at birth with symptoms apparent before age—
Preschooler with ASD
are sensitive to all types of sensory information ,sensitivity often results in a rigid, self-restricted range of food choices, parent and caregivers concerns about their nutritional adequacy
Glutein amd casein
Some families will restrict foods and beverages containing ———, in an attempt to improve behavior or gastrointestinal symptoms (but not recommended)
Spastic quadriplegia
form of cerebral palsy in which brain damage interferes with voluntary muscle control in both arms and legs)
Cerebral palsy
With muscle coordination problems combined with other developmental delays
Psychostimulant
ADHD medication that has side effects that decrease appetite, resulting in weight loss or slow weight gain and gr
Newborn screening
blood test taken from a baby to identify those that are born with metabolic/inherited problems; usually taken after a diet high in protein after 24 hours and before 7 days
RA 9288
Law for implementing mew born screening
PKU
Results from the deficiency of phenylalanine hydroxylase, which coverts phenylalanine to tyrosine
phenylalanine hydroxylase (PAH)
Phenylketonuria (PKU) is a genetic metabolic disorder in which a baby is born without an important enzyme known as
Tyrosine
A person with PKU cannot convert phenylalanine to ——-, Phe will accumulate , resulting in injury to nervous system
◦Mental retardation
◦Lack of pigmentation
◦Apathy
◦Poor physical development
◦Death
Symptoms of PKU
BH4 THERAPY
This medication can increase the activity of the enzyme (phenylalanine-hydroxylase) that does not work in people with PKU. Some people with PKU, especially those with milder forms, can lower their blood Phe levels with this medicine, and can sometimes eat more protein. BH4 is known commercially as Kuvan.
Large neutral amino acid therapy
◦This medication may help keep Phe from entering your brain. However, this medication cannot replace diet during pregnancy.
Galactosemia
Results from lack of enzyme uridyl transferase, which catalyzes formation of glucose from galactose. This disease may result in increased concentration of galactose in blood.
Cataract
Galactose in blood is reduced in the eye to galacticol, which accumulates and causes a
galactose-1-phosphate uridyl transferase
galactosemia is failure to metabolize galactose into glucose because of the absence of