Prader-Willi syndrome due to paternal 15q11q13 deletion

Prader-Willi syndrome due to paternal 15q11q13 deletion is a complex neurodevelopmental condition that affects multiple organ systems, including the endocrine, neurological, and behavioral domains. It is characterized by early feeding difficulties in infancy, evolving into a constellation of features such as obesity and cognitive or behavioral changes in childhood. This condition is caused by an abnormal imprinting process, wherein the paternal contribution of the affected chromosome region is absent. Although precise prevalence data is not available, the syndrome is recognized for its distinctive clinical presentation and variability among affected individuals.

Children with this syndrome typically present with feeding difficulties during infancy and hypotonia, which later give way to excessive weight gain and obesity. In addition, neurological and behavioral features such as speech articulation challenges, abnormal temper tantrums, autistic behavior, and atypical conduct are commonly observed. Endocrine abnormalities may include central hypothyroidism, premature pubarche, central adrenal insufficiency, delayed puberty, and diabetes mellitus. Other systemic issues, such as cryptorchidism in males, ventriculomegaly, parietal cortical atrophy, and vision abnormalities, further contribute to the complex clinical picture. Not all individuals experience all features, and severity varies considerably.

This condition involves genomic imprinting, a phenomenon where gene expression depends on whether the genetic material is inherited from the mother or the father. In the case of Prader-Willi syndrome due to paternal 15q11q13 deletion, a deletion on the paternal chromosome leads to a loss of expression of genes that are normally active only when inherited from the father. The precise genetic basis is not detailed beyond this deletion, and recurrence risk depends on the underlying molecular mechanism. Families are strongly advised to seek genetic counseling to better understand the complex factors involved in inheritance.

Currently, management focuses on supportive care and symptom management. Treatment is tailored to the individual and typically involves a multidisciplinary team that may include endocrinologists, developmental pediatricians, nutritional experts, and mental health professionals. Regular surveillance is an essential part of long-term care, helping to identify potential complications such as endocrine imbalances, metabolic issues, or neurocognitive challenges before they become serious. Genetic counseling is an important component of care, providing families with guidance on treatment options and future family planning.

With current standards of care, individuals with this syndrome may experience a lifelong neurodevelopmental condition that is marked by early feeding challenges, later onset of hyperphagia and obesity, and variable cognitive and behavioral outcomes. Outcomes vary depending on symptom severity, age at diagnosis, and access to specialized care. That outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists who are experienced with this condition, including genetic counselors and developmental experts, to review ongoing management strategies.