Question

The nurse is assessing an infant with Down syndrome. The nurse can expect the infant to have: A. Micrognathia and short upturned nose B. Cardiac anomaly and intrauterine growth retardation C. Hypotonia and transpalmar creases D. Macrosomia and ruddy skin color

Short answer

A. Micrognathia and short upturned nose B. Cardiac anomaly and intrauterine growth retardation C. Hypotonia and transpalmar creases D. Macrosomia and ruddy skin color Answer: C. Hypotonia and transpalmar creases

Step-by-step solution

Understand Down syndrome features

Down syndrome is a genetic condition that causes developmental delays, intellectual disability, and physical abnormalities. Some common features include hypotonia (low muscle tone), distinct facial features such as flattened face, small and upturned nose, short neck, and ears with an unusual shape, and various health issues such as congenital heart defects and gastrointestinal problems. It is essential to know these characteristics to pick the correct answer.

Analyze the given options

Now that we have an understanding of the features of Down syndrome, we can analyze the given options: A. Micrognathia and short upturned nose: Micrognathia (small jaw) is not a common feature of Down syndrome; however, a short upturned nose is. B. Cardiac anomaly and intrauterine growth retardation: Cardiac anomalies are common, but intrauterine growth retardation is not specifically linked to Down syndrome. C. Hypotonia and transpalmar creases: Hypotonia is a characteristic feature, and transpalmar creases (also known as a single palmar crease or simian crease) are often present in individuals with Down syndrome. D. Macrosomia and ruddy skin color: Macrosomia (large body size) is not a feature of Down syndrome, and neither is ruddy skin color.

Select the correct answer

After analyzing the options and comparing them with the known features of Down syndrome, we can conclude that option C, "Hypotonia and transpalmar creases," is the correct answer as these are the most common features of an infant with Down syndrome.

Key concepts

Understanding Genetic Conditions

Genetic conditions are disorders caused by abnormalities in an individual's DNA, which can be inherited from parents or arise from spontaneous mutations. Down syndrome, for instance, is a genetic condition that results from the presence of all or part of a third copy of chromosome 21, known as trisomy 21. This extra genetic material alters the course of development and leads to the various characteristics associated with the syndrome.
Common genetic features of Down syndrome include distinct facial features such as a flattened face, small and upturned nose, and slanted almond-shaped eyes. People with Down syndrome may also have a single palmar crease, small ears, and a protruding tongue due to a small mouth and larger tongue. Cognitive and physical development in individuals with Down syndrome is usually slower, and they often exhibit a degree of intellectual disability.
Understanding these genetic traits is crucial for healthcare professionals to provide appropriate care and support. Genetic conditions like Down syndrome often require a multidisciplinary approach for management, involving healthcare providers, therapists, and educational support to help individuals lead productive lives.

Developmental Delays and Down Syndrome

Developmental delays are significant lags in a child's physical, cognitive, behavioral, emotional, or social development, relative to established norms. With Down syndrome, developmental delays are commonly observed and impact various aspects of growth and development. For example, children with Down syndrome may take longer to reach milestones such as sitting up, walking, or talking.
In terms of cognition, individuals with Down syndrome often have mild to moderate intellectual disabilities, which may affect their learning and problem-solving abilities. However, it's important to note that each individual with Down syndrome is unique, and their capacities and talents vary widely.

Social and Emotional Development

Children with Down syndrome are often very social and affectionate, but they might still experience delays in social and emotional development. Developing personalized learning strategies and support plans, including speech therapy, occupational therapy, and physical therapy, can greatly help in managing these developmental delays and enhancing quality of life.

Congenital Heart Defects in Down Syndrome

A congenital heart defect is an anomaly or malformation in the heart's structure that is present at birth. Approximately half of all individuals with Down syndrome have congenital heart defects, making it a critical aspect of their medical care. The most common types of heart defects seen in Down syndrome include atrioventricular septal defects (AVSD), ventricular septal defects (VSD), and atrial septal defects (ASD).

Healthcare Management

Early detection and treatment of congenital heart defects are crucial to improve the health outcomes for individuals with Down syndrome. This can involve surgical interventions, medication management, and ongoing monitoring by a cardiologist. These heart conditions can affect an individual's lifestyle, necessitating specific adaptations to activities or routines to manage their health effectively. Regular check-ups and care from a multidisciplinary team can help ensure that individuals with Down syndrome, who have congenital heart defects, lead full and active lives.