1. A new mother and father find out that their child is diagnosed with phenylketonuria (PKU). You are asked to counsel them regarding the treatment of their child’s disease. What would you say?
She would first need to know that PKU is treatable. Treatment of PKU consists of restriction of phenylalanine from the diet in order to maintain toxic levels and some common foods are milk and eggs (Newborn Screening, 2013). Supplementation with other amino acids is essential. Treatment is lifelong and patient must adhere to treatment plan to prevent complications especially individuals who are pregnant. Noncompliance in pregnant women can cause damage prenatally. Supplementation of energy, protein and nutrients is important for growth and development of the brain. Tyrosine may be …show more content…
What is the difference between the structural malformations of anencephaly and encephalocele?
Anencephaly- Soft, bony part of the skull with most of the brain missing (McCance & Huether, 2014). Neural tube defect that failed to close and born without the forebrain and cerebellum. Brain tissue is usually exposed and infants are usually blind, deaf, and unable to feel (Hydrocephalus Fact Sheet, 2015).
Encephalocele- protrusion of the brain that is sac like and membranes cover it through the opening of the skull. Result of failure of the neural tube to close. Cranifacial abnormalities are usually seen with this disorder (Hydrocephalus Fact Sheet, 2015).
5. What is cerebral palsy and what are the clinical manifestations?
Cerebral palsy is a condition that affects movement, tone, and posture caused by injury or atypical development of the brain. It can occur before, during, or after birth up to 1 year of age. Most common disorder that affects the motor system (Centers of Disease Control and Prevention, 2015). Damage can occur from impaired implantation, trauma, radiation, toxic substances, and chromosomal abnormalities maternal diabetes, or nutrition deficiency (McCance & Huether,
She would first need to know that PKU is treatable. Treatment of PKU consists of restriction of phenylalanine from the diet in order to maintain toxic levels and some common foods are milk and eggs (Newborn Screening, 2013). Supplementation with other amino acids is essential. Treatment is lifelong and patient must adhere to treatment plan to prevent complications especially individuals who are pregnant. Noncompliance in pregnant women can cause damage prenatally. Supplementation of energy, protein and nutrients is important for growth and development of the brain. Tyrosine may be …show more content…
What is the difference between the structural malformations of anencephaly and encephalocele?
Anencephaly- Soft, bony part of the skull with most of the brain missing (McCance & Huether, 2014). Neural tube defect that failed to close and born without the forebrain and cerebellum. Brain tissue is usually exposed and infants are usually blind, deaf, and unable to feel (Hydrocephalus Fact Sheet, 2015).
Encephalocele- protrusion of the brain that is sac like and membranes cover it through the opening of the skull. Result of failure of the neural tube to close. Cranifacial abnormalities are usually seen with this disorder (Hydrocephalus Fact Sheet, 2015).
5. What is cerebral palsy and what are the clinical manifestations?
Cerebral palsy is a condition that affects movement, tone, and posture caused by injury or atypical development of the brain. It can occur before, during, or after birth up to 1 year of age. Most common disorder that affects the motor system (Centers of Disease Control and Prevention, 2015). Damage can occur from impaired implantation, trauma, radiation, toxic substances, and chromosomal abnormalities maternal diabetes, or nutrition deficiency (McCance & Huether,