A nurse is reinforcing teaching to the parent of a terminally ill child about end-of-life care. Which of the following statements by the parents indicates an understanding of the teaching?

Down Syndrome

• Prenatal diagnosis common
• Intellectual disability (mild to moderate)
• Joint laxity (hypotonia, loose joints)
• Gastrointestinal issues (GERD, duodenal atresia, feeding difficulties)
• Cardiac defects (AVSD, VSD, ASD)

Fragile X Syndrome

• Intellectual disability (most common inherited cause)
• Increased likelihood of seizures
• Joint laxity (connective tissue abnormalities)

Autism Spectrum Disorder (ASD)

• Intellectual disability (varies, not always present)
• Increased likelihood of seizures

Rationale:

Prenatal diagnosis common: Down syndrome is often diagnosed prenatally via noninvasive prenatal testing (NIPT), chorionic villus sampling (CVS), or amniocentesis. Fragile X and ASD do not have standard prenatal screening tests. Fragile X is typically diagnosed after developmental delays emerge, and ASD is diagnosed based on behavioral assessments.

Intellectual disability: Most individuals with Down syndrome experience mild to moderate intellectual disability. Fragile X is the most common inherited cause of intellectual disability, especially in males. While ASD does not always involve intellectual disability, some individuals with severe ASD may have cognitive impairments.

Increased likelihood of seizures: While seizures can occur, they are not a hallmark of Down syndrome. Individuals with Fragile X have a higher risk of epilepsy, particularly in childhood. ASD is associated with higher seizure rates, especially in those with intellectual disability.

Joint laxity (loose joints, hypermobility): Hypotonia (low muscle tone) and joint laxity are common in Down syndrome, affecting movement and motor skills. Fragile X also causes connective tissue abnormalities, leading to joint hypermobility. ASD does not typically cause joint laxity.

Gastrointestinal issues: Individuals with Down syndrome often have GERD, feeding difficulties, and congenital GI anomalies like duodenal atresia and Hirschsprung disease. While some individuals with Fragile X Syndrome & Autism Spectrum Disorder may have GI issues, they are not primary features.

Cardiac defects: Congenital heart defects (e.g., atrioventricular septal defect, ASD, VSD) are very common in Down syndrome. Fragile X Syndrome & Autism Spectrum Disorder do not have a strong association with congenital heart disease.

A. Intrauterine device (IUD). While IUDs are highly effective, they require a pelvic exam for insertion and periodic monitoring, which may be challenging for an adolescent with motor difficulties and decreased memory. Additionally, IUDs do not protect against sexually transmitted infections (STIs).

B. Depot medroxyprogesterone acetate injection. This is the best option because the injection is given every 3 months, making it easier for an adolescent with memory and motor impairments to maintain consistent contraceptive use. It also does not require daily adherence like oral contraceptives.

C. Contraceptive patches. The patch requires weekly changes, which may be difficult for someone with decreased memory and coordination issues, leading to potential gaps in contraceptive coverage.

D. Combined oral contraceptives. Oral contraceptives require daily adherence, which may not be reliable for an adolescent with memory impairments. Missing doses can reduce effectiveness, making them a less suitable option.