Prader Willi Syndrome
Prader-Willi syndrome is defined as a congenital (present from birth) disease characterized by obesity, low muscle tone, limited mental capacity and hypogonadism.
PWS is a complex genetic disorder affecting appetite, growth, metabolism, cognitive function and behavior. It is typically characterized by low muscle tone, short stature (when not treated with growth hormone), incomplete sexual development, cognitive disabilities, behavioral problems, and the hallmark characteristics – chronic feelings of insatiable hunger and a slowed metabolism that can lead to excessive eating and life-threatening obesity. Those who have PWS need intervention and strict external controls, sometimes including padlocking access to food, to maintain normal weight and to help save their lives
But what is Prader-Willi Syndrome?
Prader-Willi is caused by the deletion of a gene on chromosome 15. For unknown reasons, in normal development, only the father’s copy of this gene is active. The maternal copy of this gene is turned off in all people. When there is a deletion of this gene on that one paternal copy received, the disease occurs. This is because the child is left with only the maternal copy, which is inactive in all people.
Signs of Prader-Willi can be seen at birth. New infants with the condition are often small and very floppy (hypotonic). Baby boys may have undescended testicles. The growing child often exhibits slow mental and delayed motor development, increasing obesity and small hands and feet.
During the first few years of life, a child with Prader-Willi feels ravenously hungry. This leads to uncontrollable eating and subsequent obesity. Respiratory failure with hypoxia (low blood oxygen levels) and corpulmonale (right-sided heart failure) are also common. The child has slow mental development, and the IQ seldom exceeds 80.
Signs of Prader-Willi Syndrome
- Floppy new born infant (hypotonic)
- Small for gestational age
- Undescended testicles in baby boys
- Slow mental development
- Very small hands and feet in comparison to the body
- Delayed motor development
- Rapid weight gain with marked obesity
- Insatiable appetite, food craving
- Almond shaped eyes
- Narrow skull
Behavioral
Prader–Willi syndrome is frequently associated with a constant, extreme, ravenous insatiable appetite which persists no matter how much the patient eats, often resulting in morbid obesity. Caregivers need to strictly limit the patients’ access to food, usually by installing locks on refrigerators and on all closets and cabinets where food is stored. It is the most common genetic cause of morbid obesity in children. There is currently no consensus as to the cause for this symptom, although genetic abnormalities in chromosome 15 disrupt the normal functioning of the hypothalamus. Given that the hypothalamus arcuate nucleus regulates many basic processes, including appetite, there may well be a link. In the hypothalamus of people with PWS, nerve cells that produce oxytocin, a hormone thought to contribute to satiety, have been found to be abnormal.
People with Prader–Willi syndrome have high ghrelin levels, which are thought to directly contribute to the increased appetite, hyperphagia, and obesity seen in this syndrome. Cassidy states the need for a clear delineation of behavioral expectations, the reinforcement of Behavioural limits and the establishment of regular routines.
The main mental health difficulties experienced by people with PWS include compulsive behaviour (usually manifested in skin picking) and anxiety. Psychiatric symptoms, for example, hallucinations, paranoia and depression, have been described in some cases and affect approximately 5–10% of young adults.[14] Patients are also often extremely stubborn and prone to anger. Psychiatric and behavioural problems are the most common cause of hospitalization.
It is typical for 70–90% of affected individuals to develop behavioral patterns in early childhood. Aspects of these patterns can include stubbornness, temper tantrums, controlling and manipulative behavior, difficulty with change in routine, and compulsive-like behaviors.
Management
Positive behavioral support is an essential tool for all caregivers of a person with Prader-Wili syndrome. It is best to implement positive behavioral strategies early in a child’s life – even before behavioral challenges emerge. It is an important proactive and preventative step to become familiar with and implement positive behavioral strategies.
A positive behavioral strategy can help:
- Decrease tantrums.
- Diminish perseverative and OCD like behaviors.
- Increase cooperation and effective transitions through activities and portion of the day.
A positive behavioral support strategy uses a person’s strengths and interests to help motivate them to achieve non-preferred goals and activities. It is a way to do some behavioral problem solving in a fun, creative, and effective way.
It is also important to pay attention to the link behind good behavior and appropriate food management at home and in other settings.
Here are some great behavioral resources for you: