LABHART-WILLI SYNDROME

LABHART-WILLI SYNDROME

Overview and Facts

Labhart-Willi syndrome or Prader-Willi syndrome is a multisystem genetic condition that affects multiple parts of the body. Weak muscle tone or hypotonia, feeding difficulties in newborns, hormone deficiency, and delayed growth are all common symptoms of this disorder.

Affected individuals develop eating disorders as early as childhood, such as not feeling satisfied after eating, which leads to frequent overeating (hyperphagia) and obesity. These can even progress to other major health problems.

Furthermore, people with this disorder frequently suffer from cognitive impairment, mental retardation, and learning difficulties. Aside from those, certain behavioral issues, like temper tantrums, stubbornness, and compulsive behavior like skin picking, and delayed language development may also arise.

Types and Symptoms

SYMPTOMS

The severity and symptoms of Labhart-Willi syndrome vary from a person to another. Moreover, many aspects of this disease can be vague, while others may emerge gradually or be subtle.

Symptoms for Labhart-Willi syndrome include:

  • Weak muscle tone or hypotonia
  • Distinctive facial features for infants that may develop after birth or over time
  • Insatiable appetite or overeating
  • Distinct behavioral problems
  • Cognitive impairment (mild to moderate)
  • Hypogonadism
  • Growth hormone deficiency

It’s important to emphasize that people who are affected may or may not experience all of the symptoms listed above. Also, when symptoms arise, it would be best to consult a physician immediately.

Diagnosis & Medications

DIAGNOSIS

A detailed patient history, a complete clinical exam, and the identification of distinctive symptoms are all used to make a diagnosis of Labhart-Willi syndrome. Furthermore, genetic testing may also be required in order to identify the precise genetic subtype of the condition.

Aside from those, the following procedures may also be administered:

  • DNA methylation lab tests
  • Fluorescence in situ hybridization

TREATMENT

The treatment for PWS is designed to the individual’s specific symptoms. Early intervention and strict adherence to treatment can significantly improve the overall health and quality of life of those who are affected and their families.

Moreover, the treatment may need a collaboration between various medical professionals with different specializations. Nevertheless, children suffering from this syndrome will need the following:

  • Human growth hormone treatment
  • Sex hormone treatment
  • Good nutrition and weight management
  • Treatment for sleep problems, like sleep apnea
  • Behavioral management
  • Physical, developmental, and speech therapies
  • Mental health care

Furthermore, other treatments that address specific symptoms may also be required.

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