A nurse is assisting in the care of an infant in a pediatric clinic Exhibits For each potential finding, click to specify if the finding is common with the diagnosis. There must be at least 1 selection in every row. There does not need to be a selection in every column.

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.