Always hungry? Prader-Willi syndrome (PWS)

By SWA

Prader-Willi syndrome (PWS) is a rare genetic disorder that results from the deletion or inactivation of genes on the paternal chromosome 15. It is characterized by a number of physical, mental, and behavioral symptoms. These findings suggest that HERC2 is an important gene encoding a GEF involved in protein trafficking and degradation pathways in the cell (, ).

Here's a brief overview of the effects of PWS:

  1. Physical Symptoms:

    • Hypotonia: Infants with PWS often have weak muscle tone (hypotonia) and struggle with sucking, leading to difficulty in feeding.
    • Failure to Thrive: Despite having a normal appetite as infants, children with PWS may gain weight slowly and remain much smaller than their peers.
    • Altered Growth: As they grow older, individuals with PWS can have short stature and small hands and feet.
    • Distinct Facial Features: Children may have almond-shaped eyes, a narrow forehead, a down-turned mouth, and a thin upper lip.

  2. Behavioral and Mental Symptoms:

    • Excessive Hunger: One of the most well-known symptoms of PWS is an insatiable appetite. This can lead to obesity if not carefully managed.
    • Developmental Delays: Children with PWS often reach developmental milestones later than their peers.
    • Intellectual Disability: Most individuals with PWS have some level of intellectual disability or learning disability.
    • Behavioral Issues: Including temper outbursts, stubbornness, and compulsive behaviors.

  3. Endocrine Symptoms:

    • Hormonal Imbalances: Many individuals with PWS experience hormone imbalances which can lead to reduced growth hormone levels, early or incomplete puberty, and fertility problems. 
    •  
    •  Here are the key hormones involved:

    • Growth Hormone (GH): Many individuals with PWS have a deficiency in growth hormone. This leads to short stature, low muscle mass, and increased body fat. Growth hormone replacement therapy is often prescribed to children with PWS to promote growth and improve body composition.

    • Thyroid Hormones: Hypothyroidism, or an underactive thyroid, can occur in individuals with PWS. This condition is characterized by low levels of thyroid hormones, particularly thyroxine (T4) and triiodothyronine (T3).

    • Sex Hormones:

      • Gonadotropins: Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) are often affected in PWS. These hormones control sexual development and reproductive function.
      • Estrogen and Testosterone: Due to the dysfunction of the gonadotropins, individuals with PWS often have low levels of sex hormones, leading to incomplete or delayed puberty and infertility.

    • Adrenocorticotropic Hormone (ACTH): There can be disturbances in the secretion of ACTH, which stimulates the adrenal glands to produce cortisol, a hormone involved in the body's response to stress.

    • Oxytocin: Some studies suggest that individuals with PWS may have abnormalities in the oxytocin system, which could be linked to some of the behavioral symptoms of the disorder.

    • Insulin: Though not directly a result of PWS, individuals with the syndrome are at risk for developing type 2 diabetes due to obesity and insulin resistance.

    • Ghrelin: Some studies have shown elevated levels of ghrelin in individuals with PWS. Ghrelin is often referred to as the "hunger hormone" because it stimulates appetite. Elevated levels could contribute to the insatiable appetite seen in PWS.

    It's important to recognize that while hormonal imbalances are common in PWS, not every individual will experience all of these imbalances.

  4. Other Health Challenges:

    • Sleep Disturbances: Sleep apnea and other sleep disorders are common.
    • Scoliosis: Some people with PWS develop a curvature of the spine.
    • Skin Picking: Compulsive skin picking can be an issue.
    • Vision Problems: Including nearsightedness and strabismus.

  5. Social and Emotional Challenges:

    • Due to the combination of intellectual and behavioral symptoms, individuals with PWS often face challenges in social situations. They may have difficulty understanding social cues and forming relationships.
    • Emotional symptoms such as anxiety and mood fluctuations can also be present.

    Adult individuals diagnosed with PWS have it for their entire lives. 

    The term "adult Prader-Willi syndrome" isn't a separate or distinct condition from PWS, but rather refers to the manifestation of PWS symptoms and challenges in adult individuals.

    While many of the symptoms of PWS are first recognized in infancy or childhood, such as poor muscle tone and feeding difficulties in infancy or insatiable appetite in early childhood, these symptoms evolve and change as the individual grows older. Here's how PWS can manifest in adulthood:

  6. Appetite and Obesity: The insatiable appetite often continues into adulthood, making individuals with PWS prone to obesity if not carefully managed. This can lead to related health issues, such as type 2 diabetes, heart disease, and sleep apnea.

  7. Behavioral Challenges: Some adults with PWS may continue to exhibit behavioral challenges such as temper outbursts, compulsive behaviors, and mood fluctuations.

  8. Endocrine Issues: Hormonal imbalances, such as growth hormone deficiency and sex hormone imbalances, can persist or become apparent in adulthood. This can lead to osteoporosis, reduced muscle mass, and other related issues.

  9. Social and Emotional Challenges: Adults with PWS often face challenges in social situations due to intellectual and behavioral symptoms. Forming and maintaining relationships can be difficult. Additionally, they may have a higher risk of mental health issues like anxiety and depression.

  10. Reproductive Health: Due to hormonal imbalances, most adults with PWS do not fully develop secondary sexual characteristics, and many are infertile.

  11. Cognitive Function: While adults with PWS often have intellectual impairments, their cognitive abilities can span a wide range. Some may live semi-independently with support, while others may require more structured environments.

It's essential to recognize that the severity and combination of these symptoms can vary widely among adults with PWS. As with any genetic disorder, early intervention, ongoing support, and comprehensive medical care can help manage the symptoms and improve the quality of life for those affected.

In addition note that while the above are common symptoms of PWS, the severity and combination of these symptoms can vary widely among individuals. Early diagnosis and intervention can help manage the symptoms of PWS and improve the quality of life for those affected.

Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology

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