Prader-Willi syndrome
ICD-10 Q87.11 is a billable code used to indicate a diagnosis of prader-willi syndrome.
Prader-Willi syndrome (PWS) is a complex genetic disorder caused by the loss of function of specific genes on chromosome 15, typically due to paternal deletion or maternal uniparental disomy. Clinically, PWS is characterized by hypotonia, feeding difficulties in infancy, and later development of hyperphagia leading to obesity. Patients often exhibit developmental delays, behavioral problems, and endocrine abnormalities, including growth hormone deficiency and hypogonadism. Congenital malformations associated with PWS can include skin abnormalities such as hypopigmented skin, breast hypoplasia, and other rare malformations affecting the spleen and adrenal glands. The syndrome's multifaceted nature necessitates a multidisciplinary approach for management, including nutritional guidance, hormone therapy, and behavioral interventions. Accurate coding of PWS is crucial for appropriate healthcare planning and resource allocation.
Pediatric documentation must include growth charts, developmental assessments, and nutritional evaluations.
Common scenarios include management of obesity, monitoring growth hormone therapy, and addressing behavioral issues.
Consideration of age-related changes in symptoms and the need for ongoing assessments.
Genetic documentation should include results from chromosomal microarray analysis and parental genetic testing.
Genetic counseling sessions for families, diagnosis confirmation, and risk assessment for future pregnancies.
Importance of documenting family history and genetic counseling outcomes.
Used in conjunction with PWS management to assess developmental progress.
Document the screening results and any referrals made.
Pediatric specialists should ensure comprehensive developmental assessments.
Documentation should include genetic testing results, clinical evaluations, and any associated congenital malformations. It is essential to provide a comprehensive clinical narrative that outlines the patient's management plan.
