A baby with trisomy 21 is admitted to the newborn nursery. The baby should be assessed for which of
the following features?
Simian crease
Polydactyly
Harlequin sign
Mongolian spots
The Correct Answer is A
Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21, which is why it's also called trisomy 2A. This additional genetic material affects how the body and brain develop, leading to a range of physical, cognitive, and developmental differences.
Rationale for correct answer:
A. A single transverse palmar crease is a common finding in infants with Down syndrome. While it can also appear in healthy infants, its presence along with other physical characteristics supports the diagnosis of trisomy 2A.
Rationale for incorrect answers:
B. The presence of extra digits is associated more with trisomy 13 (Patau syndrome), not trisomy 2A.
C. A transient skin color change (half red, half pale) due to immature blood vessel regulation in newborns. It is a benign and temporary finding, not specific to Down syndrome.
D. Benign bluish pigmentation commonly found on the sacral area of infants with darker skin tones. These are unrelated to chromosomal abnormalities.
Take home points
- Simian crease is a key physical finding in Down syndrome, though not diagnostic on its own.
- Other common Down syndrome features: hypotonia, upslanting palpebral fissures, epicanthal folds, flat nasal bridge, and small ears.
- Distinguish Down syndrome features from findings related to other syndromes (e.g., polydactyly in trisomy 13).
- Early recognition allows prompt evaluation for associated conditions (e.g., congenital heart disease, GI anomalies).
Nursing Test Bank
Naxlex Comprehensive Predictor Exams
Related Questions
Correct Answer is ["A","B","E"]
Explanation
Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that affects how a person communicates, interacts socially, and processes sensory information. The term “spectrum” reflects the wide range of symptoms, abilities, and challenges that individuals with autism may experience.
Rationale for correct answers:
A. Has yet to learn his colors or the names of animals: Language and developmental delays are common in children with autism spectrum disorder (ASD). Difficulty with basic learning tasks is often an early sign.
B. Becomes upset each time the teacher asks the child to stop what he is doing: Children with ASD often show resistance to change or transitions, and may have difficulty stopping repetitive or preferred activities.
E. Covers his ears whenever the school principal makes an announcement on the loud speaker: Many children with ASD have sensory sensitivities such as hypersensitivity to sounds, lights, or textures.
Rationale for incorrect answers:
C. Is the first in line when it is time to go out to play in the playground: This behavior is normal enthusiasm for play, not an indicator of autism.
D. Runs to the teacher to get a kiss whenever he gets hurt while playing: Children with ASD often have difficulty with social reciprocity and seeking comfort from others. Running for a kiss when hurt indicates appropriate social/emotional response, not autism.
Take home points
- Key features of autism spectrum disorder include:
- Communication difficulties (speech delay, trouble naming objects, poor eye contact).
- Repetitive or restrictive behaviors (rigid routines, upset with change).
- Sensory sensitivities (covering ears, avoiding textures).
- Impairment in social reciprocity (not usually seeking comfort, trouble forming peer relationships).
Correct Answer is ["B"]
Explanation
Fragile X Syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, which normally produces a protein (FMRP) essential for brain development. In FXS, this gene is either silenced or doesn’t produce enough of the protein, leading to developmental challenges.
Rationale for correct answer:
B. Aggressive behavior is common in fragile X syndrome. Children may exhibit aggression toward themselves or others, often triggered by stress, overstimulation, or difficulty with communication. This is a key behavioral manifestation educators and nurses should anticipate.
Rationale for incorrect answers:
A. Lordotic posturing is not a typical finding. Lordosis is more associated with musculoskeletal or spinal conditions.
C. Two different eye colors is called heterochromia, which is unrelated to fragile X syndrome.
D. Asynchronous breathing is not associated with fragile X. Breathing irregularities are not part of the syndrome’s typical manifestations.
Take home points
- Fragile X syndrome is the most common inherited cause of intellectual disability.
- Key features include: intellectual disability, speech and developmental delays, social anxiety, hyperactivity, and behavioral issues including aggression.
- Physical features may include a long face, large ears, and macroorchidism (after puberty).
- Nurses and teachers should be prepared to implement behavioral support strategies and foster structured, low-stress environments.
Whether you are a student looking to ace your exams or a practicing nurse seeking to enhance your expertise , our nursing education contents will empower you with the confidence and competence to make a difference in the lives of patients and become a respected leader in the healthcare field.
Visit Naxlex, invest in your future and unlock endless possibilities with our unparalleled nursing education contents today
Report Wrong Answer on the Current Question
Do you disagree with the answer? If yes, what is your expected answer? Explain.
Kindly be descriptive with the issue you are facing.
