Bambini con Necessità Sanitarie Speciali

Children with Special Healthcare Needs (CYSHCN)

• CYSHCN are children and youth under 21 years who have or are at increased risk of developing a chronic physical, developmental, behavioral, or emotional condition.
• They require health and related services beyond what is typically needed by children.
• Disability is an umbrella term encompassing dysfunction at the body/body part, whole person, or social context levels.
• Environmental and personal factors influence disability.

Definitions of CYSHCN

• Chronic conditions: Diagnosed or not, with or without intellectual disability.
• Major malformations/medical complications: Require a multidisciplinary approach.
• Functional limitations: Limitations in daily activities.
• Need of assistance: Medical and social support.

Examples of CYSHCN

• Patients with congenital cerebral anomalies (e.g., genetic syndromes, inborn errors of metabolism).
• Patients with acquired conditions (e.g., neoplasms, ischemia, neonatal conditions).

CYSHCN Characteristics

• Require complex medical assistance.
• Have a higher risk of complications.
• Have a higher risk of suboptimal outcomes in emergency situations.
• Require functional diagnosis to identify specific and transversal medical needs.

Common Issues in CSHCN

• Nutritional problems
• Behavioral issues
• Neurological issues
• Hearing/visual impairment
• Respiratory issues
• Gastrointestinal issues

Prevalence and Economic Impact

• Prevalence of children needing high levels of assistance: 2.5% per 1,000 children.
• Prevalence of children needing low levels of assistance: 5-25% per 1,000 children
• 70% of health system costs (Newacheck et al., 2005).
• 4x hospitalization compared to healthy children;
• 3x risk hospitalization in ICU (Dosa et al., 2001).
• Longer hospitalizations.

Logistic and Social/Cultural Issues

• Mandatory multidisciplinary approach required to coordinate assistance of the child, family, and staff.
• Time spent on each patient/family: face-to-face evaluation (74 minutes), communication with family (74 minutes), and team coordination (30-60 minutes).
• Inclusion in schools, sports, and the workplace.
• Disability is not a choice; attitude towards disability is a choice.

Genetic Syndromes

• Almost 50% of CYSHCN are affected by a rare genetic syndrome.
• Rare diseases are individually rare but collectively common (7,000 rare diseases and disorders identified; 80% of rare diseases are genetic).
• 50% of rare diseases start in childhood.
• Examples of Genetic Syndromes discussed include Down Syndrome.

Down Syndrome (Trisomy 21)

• Most common genetic disorder in humans.
• 95% of cases are Trisomy 21 (nondisjunction), with three copies of chromosome 21 instead of the usual two.
• 4% are translocation, where part of chromosome 21 breaks off and attaches to another chromosome.
• 1% are mosaicism, a mixture of cells with the usual 46 chromosomes and some with 47.
• Dysmorphism: characteristics like upslanted palpebral fissures, flat nasal bridge, nuchal folds, single palmar flexion crease, clinodactyly of the fifth finger, hypotonia.
• Growth: Growth delay during the second year of life and during puberty; bone age delay (more in males).
• Obesit: Occurs mainly during female puberty; slower metabolism compared to unaffected children.
• Medical Problems: Congenital heart disease, gastrointestinal anomalies, neurodevelopmental disorders, hematological issues, autoimmune diseases. Further, issues with orthopedic evaluation, like flatfoot, genu valgum, scoliosis and atlas-axial joint instability.
• Diagnostics: Consider genetic counseling and follow-up with specialized care.

William Syndrome

• Genetic disorder due to a deletion on chromosome 7.
• Phenotype: Associated with intellectual disability and atypical social interactions.
• Other characteristics: developmental delay, hypotonia, specific craniofacial features, hearing loss, and cardiovascular abnormalities.

Case studies on patient presentations with relevant diagnoses

• Specific case studies, including examples of diagnosis, symptoms, and treatment.

Conclusions

• Children and youth with special healthcare needs require a multidisciplinary approach.

• 50% have genetic conditions, and these conditions are rare only when viewed individually.

• Patients with rare conditions often exhibit common and specific issues.

Questo quiz esplora il concetto di bambini e giovani con necessità sanitarie speciali (CYSHCN). Analizzeremo condizioni croniche, malformazioni, e le sfide uniche che questi individui affrontano. Il quiz è fondamentale per comprendere il supporto necessario per questi bambini.