Autosomal Disorders Overview
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Questions and Answers

What is a characteristic feature of Achondroplasia?

  • Abnormal bone growth resulting in short stature (correct)
  • Deficiency of phenylalanine
  • High risk of cancer
  • Variable expression with neurofibromas

What condition is primarily linked to a deficiency of the Hex-A enzyme?

  • Sickle cell disease
  • Beta-thalassemia
  • Cystic fibrosis
  • Tay-Sachs disease (correct)

Which disorder is associated with very high levels of cholesterol in the blood?

  • Huntington's disease
  • Neurofibromatosis
  • Familial hypercholesterolemia (correct)
  • Marfan syndrome

What is a key feature of Congenital heart defects?

<p>Considered to be multifactorial in origin (B)</p> Signup and view all the answers

Which autoimmune disorder is primarily characterized by abnormal hemoglobin?

<p>Sickle cell disease (D)</p> Signup and view all the answers

Which condition involves incomplete closure of the neural tube during fetal development?

<p>Neural tube defects (C)</p> Signup and view all the answers

Huntington's disease is primarily associated with degeneration in which part of the body?

<p>Brain (B)</p> Signup and view all the answers

Which condition is characterized by a mutation in the CFTR gene?

<p>Cystic fibrosis (B)</p> Signup and view all the answers

What is a common clinical feature of Neurofibromatosis?

<p>Café au lait spots (D)</p> Signup and view all the answers

Which disorder involves a cognitive development issue due to enzyme deficiency?

<p>Phenylketonuria (D)</p> Signup and view all the answers

Which condition involves a structural issue related to connective tissue affecting multiple systems in the body?

<p>Marfan syndrome (B)</p> Signup and view all the answers

What is a significant feature of Tay-Sachs disease?

<p>Enzyme deficiency leading to lipid accumulation (C)</p> Signup and view all the answers

Which autosomal dominant disorder can lead to facial spots and benign tumors on the skin?

<p>Neurofibromatosis (D)</p> Signup and view all the answers

Which of the following conditions is most directly associated with high cholesterol levels?

<p>Familial hypercholesterolemia (D)</p> Signup and view all the answers

Which condition typically presents with neural tube defects that manifest in various forms such as spina bifida?

<p>Neural tube defects (B)</p> Signup and view all the answers

What is a common characteristic of congenital heart defects?

<p>Multifactorial causes with genetic associations (B)</p> Signup and view all the answers

What condition is characterized by the presence of abnormal hemoglobin and results in vaso-occlusive events?

<p>Sickle cell disease (A)</p> Signup and view all the answers

Which disorder leads to progressive decline in nerve cells affecting cognitive function and movement?

<p>Huntington's disease (D)</p> Signup and view all the answers

Which disorder commonly leads to end-stage lung disease due to CFTR gene mutation?

<p>Cystic fibrosis (C)</p> Signup and view all the answers

Which condition is classified as multifactorial and may involve genetic and environmental influences?

<p>Autism spectrum disorder (A)</p> Signup and view all the answers

Which factor is NOT identified by Florence Nightingale as contributing to health?

<p>Social support (D)</p> Signup and view all the answers

How does Martha Rogers view the relationship between humans and the environment?

<p>Humans are interconnected with their environment (B)</p> Signup and view all the answers

What is a primary focus of Margaret Newman's theory?

<p>Process of awareness and connection (D)</p> Signup and view all the answers

Which of the following best defines the role of modeling in the Modeling and Role-Modeling theory?

<p>Understanding the client's uniqueness and surroundings (A)</p> Signup and view all the answers

According to Rosemarie Parse's Human Becoming Theory, what is a significant aspect of a person's reality?

<p>It is meaningful through lived experience (A)</p> Signup and view all the answers

What central idea is proposed in Dorothea Orem's Theory of Self-Care?

<p>Self-care is essential for maintaining health and functionality (C)</p> Signup and view all the answers

Which is NOT one of the five goals of nursing interventions in the Modeling and Role-Modeling theory?

<p>Restrict client control (A)</p> Signup and view all the answers

In which way does Helen Erickson's theory primarily involve the nurse-client relationship?

<p>As a partnership emphasizing mutual goals (C)</p> Signup and view all the answers

Which statement best captures the essence of health in Margaret Newman's perspective?

<p>Health expands with awareness and connection (A)</p> Signup and view all the answers

What role does the environment play in Dorothea Orem's theory?

<p>It influences self-care practices (D)</p> Signup and view all the answers

Flashcards

Achondroplasia

A genetic disorder causing short stature due to abnormal bone growth.

Neurofibromatosis (NF)

A genetic disorder characterized by benign tumors and unusual spots on skin.

Marfan syndrome

A genetic disorder affecting connective tissues that impact cardiovascular, ocular, and skeletal systems.

Huntington's disease

A progressive brain disorder that damages nerve cells, affecting movement and cognitive functions.

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Sickle cell

A genetic disease causing misshapen red blood cells, leading to anemia and painful episodes.

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Phenylketonuria (PKU)

A genetic disorder affecting brain development due to an inability to process the amino acid phenylalanine.

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Neural tube defects

Birth defects arising from incomplete closure of the neural tube during fetal development.

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Congenital heart defects

Birth defects of the heart, often multifactorial in cause.

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Cystic fibrosis

Genetic disorder causing thick mucus buildup, primarily in the lungs which can lead to lung damage.

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Multifactorial Conditions

Conditions arising from multiple factors (genes and environment).

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Autosomal Dominant

A pattern of inheritance where a single copy of a mutated gene is sufficient to cause a disorder. This means that an affected parent has a 50% chance of passing the mutated gene to their child.

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Autosomal Recessive

A pattern of inheritance where both parents must carry a copy of the mutated gene for their child to inherit the disorder.

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What is the key difference between autosomal dominant and autosomal recessive disorders?

Autosomal dominant disorders only require one copy of the mutated gene from a parent to be affected. In contrast, autosomal recessive disorders require two copies of the mutated gene, one from each parent, to be affected.

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Sickle Cell Anemia

A genetic disorder causing red blood cells to be misshapen and less efficient in carrying oxygen, leading to pain and fatigue.

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Florence Nightingale's Theory

This theory focuses on the importance of the environment in influencing a person's health. It emphasizes factors like fresh air, clean water, food, sunlight, cleanliness, and efficient drainage.

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Martha Rogers' Theory

Rogers' theory views humans as energy systems constantly interacting with their environment. It emphasizes the interconnectedness of humans and their surroundings and sees nursing as both a science and an art.

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Margaret Newman's Theory

This theory focuses on health as a process of expanding consciousness. It emphasizes awareness, finding meaning in life, connecting with the world, and recognizing the environment.

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Modeling and Role-Modeling

This theory emphasizes understanding the client, respecting their uniqueness, and assisting them in health promotion and maintenance. Nursing is seen as facilitating, nurturing, and providing unconditional acceptance.

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Human Becoming Theory

This theory focuses on the quality of life and views humans as continuously evolving and making choices. It emphasizes that reality is shaped by lived experiences and the power of human becoming.

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Self-Care Deficit Framework

This theory focuses on self-care as a vital process for maintaining life and physical and mental functioning abilities. It highlights the importance of self-care actions and the potential need for assistance in achieving health goals.

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What is the connection between environment and health?

Environmental factors like fresh air, clean water, sunshine, and hygiene play a crucial role in maintaining health. A healthy environment supports a person's wellbeing.

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What are the five goals of nursing interventions in Modeling and Role-Modeling Theory?

The five goals include building trust, promoting a positive orientation, enabling client control, affirming strengths, and establishing shared health goals.

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What is the 'science and art' aspect of nursing in Rogers' theory?

Science encompasses knowledge and understanding of human beings as energy fields. Art involves creative use of this knowledge to promote health and wellness.

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What does it mean for humans to be 'transcending' in Parse's Human Becoming Theory?

Transcendence refers to the human capacity to move beyond limitations, make choices, and create meaning in life. It emphasizes the active role individuals play in shaping their lives.

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Study Notes

Autosomal Dominant Disorders

  • Achondroplasia: Characterized by abnormal bone growth, causing short stature (dwarfism).
  • Neurofibromatosis (NF): Shows variable symptoms, including characteristic café au lait spots and benign tumors (neurofibromas) on skin and beneath.
  • Marfan Syndrome: A connective tissue disorder affecting the cardiovascular system, eyes, and skeletal structure.
  • Huntington's Disease: A progressive neurological disease causing nerve cell degeneration in the brain, affecting movement, thinking, and emotions.
  • Familial Hypercholesterolemia: A genetic condition leading to significantly elevated cholesterol levels in the blood.
  • Retinoblastoma: An eye cancer originating in the retina (back of the eye).

Autosomal Recessive Disorders

  • Sickle Cell Anemia: Abnormal hemoglobin causes episodes of blood vessel blockage (vaso-occlusion) and chronic anemia.
  • Phenylketonuria (PKU): An enzyme deficiency leads to phenylalanine accumulation, inhibiting brain and cognitive development.
  • Tay-Sachs Disease: A fatal neurodegenerative disorder resulting from lipid accumulation due to an enzyme deficiency (Hex-A).
  • Cystic Fibrosis: A multi-organ disease causing severe lung problems. Inherited through mutations in the CFTR gene.
  • Gaucher Disease: A type of lipid storage disorder caused by an enzyme deficiency (GBA). Multiple subtypes exist.
  • Beta-Thalassemia: Reduced hemoglobin A production, leading to anemia.

Multifactorial Conditions

  • Neural Tube Defects: Develop during early fetal development from incomplete neural tube closure. Varying severity depending on the affected section (e.g., spina bifida, anencephaly).
  • Congenital Heart Defects: Most congenital heart problems likely have multiple contributing factors. Specific genes are linked to certain defects (e.g., patent ductus arteriosus, septal defects).
  • Cleft Lip and Palate (CL/P): Result from incomplete bony fusion during fetal development. While some rare gene mutations can cause CL/P, most cases are attributed to multiple factors.
  • Autism Spectrum Disorder (ASD): The cause is not fully understood, but likely a combination of genetic and environmental influences (e.g., exposures, infections, maternal stress). Studies with twins show a significant genetic component.

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Description

Explore the key features of various autosomal disorders, both dominant and recessive. This quiz covers conditions such as Achondroplasia, Huntington's Disease, and Sickle Cell Anemia, providing insights into their symptoms and genetic implications. Test your knowledge and understanding of these important genetic disorders.

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