Abstract
Background Prader-Willi syndrome (PWS) is a genetic disorder that occurs in approximately one out of every 15,000 births. PWS affects males and females with equal frequency and affects all races and ethnicities. PWS is recognized as the most common genetic cause of life-threatening childhood obesity. The common symptoms included small hands and feet, abnormal growth and body composition (small stature, very low lean body mass, and early-onset childhood obesity), hypotonia (weak muscles) at birth, insatiable hunger, extreme obesity, and intellectual disability.
Symptoms of PSW like poor feeding and lack of appetite in infancy reverse to an uncontrolled appetite and lack of satiety that lead to weight gain, mostly after the age of 2–3 years. They are frequently unable to sense when they are full after eating. This reverse in appetite and weight status is also noted in other conditions such as Trisomy 21.
In the absence of rigorous supervision of food intake, many PWS patients weigh more than twice their ideal body weight. Most PWS research has been targeted towards treating specific symptoms such as insatiable hunger and extreme obesity.
Improvement in weight loss continues to be the most important goal of any treatment of PWS patients but the management of obesity and hyperphagia which includes excessive eating behaviors in these patients are not easy. Previous pharmacotherapy options aimed at achieving weight loss in PWS by targeting appetite suppression has also, been shown to be extremely difficult.
The 2013 Obesity Guidelines recommends a moderate weight loss of 5–10% as the goal for medically supervised weight loss. Furthermore, a 5% weight loss from baseline is considered a clinically significant amount within a period of one month. A multidisciplinary clinical management approach during childhood can help to change the history of PWS and achieve favorable outcomes including significant weight loss in the first 6 months of its initiation.
Objective To objective of this case report was to focus on nutritional outcomes as part of a multidisciplinary clinical management approach in a child with severe morbid obesity and Type 2 diabetes mellitus (T2D) with PWS.
Method A 9.5-year-old girl with PWS was referred to our hospital for the management of severe obesity with multiple co-morbidities. She had been to multiple centers around the world for the same. She was the 3rd child of non-consanguineous parents who was diagnosed with at the age of 2 years. The onset of polyphagia and rapid weight gain started at the age of 4 years. Additionally, there were several associated co-morbidities.
The child has T2DM since the age of 7 years requiring basal-bolus insulin regimen and metformin. The management of her morbid obesity at the other centers till the consultation at our hospital included lifestyle modification, various forms of low-calorie diets and laparoscopic sleeve gastrectomy at the age of 7 years of age. However, there was less than 5 kg reduction. On presentation to our center, the child had weight of 149 kg (100th centile, 4.4 SDS), height 139.6cm (75th centile, MPH between 90- 95th centile), BMI 76.8kg/m2 (99th centile). At this age and height the ideal body weight is 31 Kg (50th centile) for girls.
A healthy well-balanced controlled diet was initiated on hospital admission with close weekly sessions with the diabetes dietitian with the mum who was the main care giver at the time was continued to ensure the individual received the balanced nutrients while restricting excess calorie intake.
Some of the challenges observed in following the controlled healthy diet were mum bringing in and stocking high calorie and high sugar foods and snacks, the individual exchanging meals or eating food from care giver or mom in addition to the diet, eating large amounts of high calorie snacks while out to watch movies on day pass with family. Mum initially reported that the individual would become upset at her if she did not provide the high calorie and sugar snacks requested.
Weekly sessions with the diabetes dietitian included review of healthy eating interventions with mum if family opted to bring food from home or when the child went out on hospital pass. This included raising healthy eating awareness with mum such as teaching food label reading for high fibre food choices, providing low sugar fluid options and counselling mum and care giver to avoid exchanging their meals with the child. Some physical activity visiting the gym and swimming for up to 3 hours a day with family a couple of times a week also helped in distraction away from frequent grazing of food. Additionally, swimming was much enjoyed and indulged during this time, as per family.
This excess eating behaviors and appetite for constant snacking of high calorie and sugar snacks and food were noted to decrease with time during the duration of the hospital stay. With continued motivational interview with mum, she also, started bringing in high fibre snacks which were enjoyed by the individual one to two times a day.
Pharmacological management initiated at our hospital included Semaglutide and Methylphenidate, known medications for appetite suppressants once weekly gradually titrated up over the next 3 months. Her previous insulin regimen before being admitted to our hospital was basal insulin and fixed bolus insulin at meals only
Her insulin regimen was changed to a basal bolus regimen with bolus for carbohydrate calculated using carbohydrate counting method for a tighter blood glucose control. Mum received 4 sessions with the diabetes dietitian for carbohydrate counting and insulin calculations. She felt comfortable and confident to apply even when out of the hospital with the child on day pass.
Results By the end of 3 months of a structured nutritional approach with some physical activity and a combination of pharmacological interventions, a weight loss of 5% in a period of 1 month, a weight loss of 6.5% at two months and a total weight loss of 8.4% in 3 months, during her duration of treatment, all of which are significant was achieved. A decrease in appetite was observed by both mum and staff with decreased requests for frequent consumption of high calorie foods at meals and snacks.
Conclusion(s) It was observed that within a period of 3 months, a combination of lifestyle changes, structured nutritional approach with some physical activity and a combination of pharmacological interventions, can achieve control of appetite and significant weight loss in Prader-Willi Syndrome.
