A nurse in the pediatric clinic is collecting data from a 15-year-old child who has a history of epilepsy. The child's pediatric collaborative healthcare team includes the pediatrician, neurologist, life specialist, case manager, and nurse. Which of the following scenario(s) are examples of collaborative goal setting? (Select All that Apply.)

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. The child's parents express concerns about seizure management during sleep, and the neurologist works to adjust the child's medication to decrease the incidence of nighttime seizures. This is an example of collaborative goal setting because the healthcare team listens to parental concerns and works together to modify treatment to improve the child’s seizure management. The neurologist, parents, and possibly the pediatrician are involved in decision-making, ensuring a team-based approach to care.

B. The child remains seizure-free after six months of taking a lower dosage of medication after a dose change by the provider. This is not collaborative goal setting because it describes an outcome rather than a team-based decision-making process. The provider adjusted the medication, but there is no mention of discussion or input from multiple members of the healthcare team or the child and parents.

C. The child expresses a desire to participate in a team sport at school, and the team determines which sports are safe and any necessary safety precautions with the child and parents. This is collaborative goal setting because it involves the child, parents, and healthcare team working together to find safe and appropriate activities. The discussion ensures that the child’s personal goals are supported while prioritizing their safety.

D. The nurse checks the child at each visit for mental health concerns and relays their assessment findings to the parents, child life specialist, and pediatrician. This is an example of collaborative care because the nurse shares important assessment findings with the interdisciplinary team. By involving the pediatrician and child life specialist, the team can address the child’s mental health in addition to their physical condition.

E. The child's parents receive suggestions about complementary therapies from a family member and begin using them for their own child. This is not an example of collaborative goal setting because the healthcare team was not involved in the decision-making process. Effective collaboration requires input from qualified professionals, ensuring that treatments are safe and evidence-based.