Chelsea Rice KNH 413: MNT II Diet Instruction- Prader-Willi Syndrome. 1. Description of patient and diagnosis.
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1 Chelsea Rice KNH 413: MNT II Diet Instruction- Prader-Willi Syndrome 1. Description of patient and diagnosis. Sally is a 16 year old female who was diagnosed Prader-Willi Syndrome during infancy. Sally has gained 8 pounds over the past year. Her current height is 5 1 and her current weight is 195 lbs. Her normal food intake consists of cereal for breakfast, a sandwich for lunch, and a type of meat and potato for dinner. She really enjoys condiments including butter and mayonnaise. She consumes little vegetables. Sally does take a multivitamin and a calcium supplement every day. Sally rides her bike every day after school for 30 minutes for physical activity and sometimes will walk her dog. She is a member at the local fitness club, but reports not going that often. She was referred to a registered dietitian to be placed on a weight reduction diet. Developmental History: Sally was born at term, with an uncomplicated pregnancy. At birth, she appeared lethargic and hypoaroused, and had a weak cry. Throughout infancy she had a weak suck and poor oral intake which led to failure to thrive and lack of weight gain. Her neonatal history led to a clinical diagnosis of PWS when she was one month old. As Sally grew, she developed more physical characteristics of PWS including a narrow forehead, almond-shaped eyes, and narrow hands and feet. When Sally was 2 years old, developmental delays were evident including delayed gross and fine motor skills and receptive language. Past Medical History: At year 3 of age, Sally s appetite and oral intake changed dramatically. Between the ages of 2 and 3 she went from below the 5 th percentile in weight to above 50 th By age 7, she was close to the 90 th percentile. Her family worked together with a dietitian for the past 9 years to limit further weight gain and maintain her weight. Interventions included food logs, portion control, exercise schedule, and locking of food in kitchen. Even though Sally was delayed in development physically and mentally, her family reports that she has never had extreme behavioral problems. They believe that early detection and monitoring has helped with this. Sally has now begun to display pubertal changes, including breast development and mild facial acne, which could be connected to her recent weight gain. Anthropometrics: Temp: 96.7 Pulse: 80 Blood Pressure: 120/60 Height: 5 1 Current Weight: 195 lbs.
2 Usual Body Weight: 187 lbs. BMI: 36.9 kg/m 2 2. Discussion of the disease. Prader-Willi syndrome (PWS) is a complex genetic condition which is the most common known genetic cause of life-threatening obesity in children. It affects many parts of the body which changes throughout different ages in life. Infants with this condition have weak muscle tone, feeding difficulties, poor growth, and delayed development. Insatiable appetite leads to chronic overeating and obesity, which usually begins in childhood. Those that suffer from this condition typically have intellectual impairment, learning disability, behavioral problems, and sleep abnormalities. Physical abnormalities resulting from this condition include a narrow forehead, almond-shaped eyes, triangular mouth, short stature, small hands and feet, incomplete sexual development, fair skin, and light-colored hair. a. Etiology PWS results from an abnormality of the 15 th chromosome. It occurs in both males and females and is found in all races. Most cases are not inherited, these genetic changes occur during the formation of eggs and sperm or in early embryonic development randomly. Many affected people do not have any family history of the disorder. Prader-Willi syndrome affects approximately 1 in 10,000 to 30,000 people all over the world. b. Diagnostic Measures To diagnose Prader-Willi syndrome, a blood test is taken. To prompt a blood test, health care providers look for poor muscle tone, weak cries, poor sucking, almond-shaped eyes, and problems with growth and development in infants. In older children, excessive eating and weight gain, underdeveloped sex organs, short height and small hands and feet, intellectual disability, and thick and sticky saliva are just some of the signs and symptoms that may prompt a blood test. A definitive diagnosis is then made with special genetic blood tests which identify abnormalities in the chromosomes of the child. The preferred method of testing is a methylation analysis, which detects >99% of cases. A FISH (fluorescent in-situ hybridization) test identifies patients with PWS due to a deletion, but it will not identify those who have the condition by an imprinting error. c. Treatment i. Medical, Surgical, and/or Psychological Treatment Early diagnosis and treatment are most important in improving quality of life for a person with Prader-Willi syndrome. The following are needed in caring and treating children for PWS. High calorie formulas or special feeding methods to help an infant with this syndrome gain weight.
3 Human growth hormone to stimulate growth and influence the body s conversion of food into energy. Sex hormone treatment to replenish low levels of sex hormones. This usually begins when the child reaches the normal age for puberty. Healthy diet to keep child s weight under control as they get older. Treatment of sleep disturbances by having a sleep evaluation completed. Mental health care such as a psychologist or psychiatrist as the child grows to help address problems such as OCD or a mood disorder. ii. Medical Nutrition Therapy Prader-Willi syndrome is a condition where the nutrition concerns vary dramatically over the lifespan. The main concern during MNT is providing adequate dietary fat for brain growth and development while also preventing excessive weight gain. The appropriate medical nutrition therapy that should be provided for each lifetime period is described below. Newborn: Many newborns that are diagnosed with PWS are marked hypotonia, or decreased muscle tone. This decreased muscle tone leads to poor arousal, poor interest in eating, decreased swallowing, decreased sucking reflexes, and failure to thrive. Newborns may need to be fed with special soft nipples or through a nasogastric or gastrostomy tube up to six months of age. Weight should also be monitored to assess proper weight gain through this time period. Infancy-Preschool: Feedings normally start to improve around six months of age. An insatiable appetite may start being seen as early as twelve months of age; this appetite may lead to rapid weight can and life-threatening obesity. During this time it is important to continuing to monitor hypotonia, lethargy, weak suck, and failure to thrive. Weight and height should be assessed using the growth charts. An appropriate well balanced diet should then be adjusted to maintain appropriate weight for height. Many times, supplemental vitamins and calcium should be given to prevent vitamin deficiencies and osteoporosis. School Age: As children enter school, behavioral and social problems may begin to occur including intellectual disabilities, speech problems, temper tantrums,
4 obsessive-compulsive behaviors, skin picking, etc. To monitor weight and uncontrolled eating, intervention during this time may include locking up food, packing lunches, communicate with school about diet restrictions (during parties, using non-food rewards, etc.). Many children during this time are restricted to an 800-1,000 kcal/day diet. The children should be taking a vitamin and calcium supplement still and may need to be on a fluid restriction to prevent fluid overload. Another intervention may include developing physical activity plans for the family and with the school to maintain child s weight and increase child s good behavior. Adolescence: This is an important time for individuals and can be difficult for someone who has Prader-Willi syndrome. Stealing food may increase during this time due to the frustration that may come with food sharing and having increased activities where food is present; therefore one-on-one supervision may be needed in the cafeteria. During this time, an adolescent should be on a 1,000-1,000 kcal/day diet, but should be appropriately adjusted to the individual s height. Multivitamins and calcium supplements should still be given. Adolescents should now be getting at least 30 minutes of exercise every day. It is important to suggest outside activities such as a sport or active club. Adult: Many individuals with PWS live in group homes or still with their parents. During this time, these individuals want more independence, therefore may begin using things such as public transportations. This independence may lead to more buying or stealing food. These individuals should remain on a 1,000-1,200 kcal/day diet. Weight should always be monitored and assessed as well as BMI should be less than 30. Further osteoporosis can be prevented by giving a calcium supplement and multivitamin. Calorie Recommendations: Sally s REE = (W) (H) 4.68 (A) Sally s REE = (88.6 kg) ( cm) 4.68 (16 years) Sally s REE = 1710 kcal/day Sally s TEE = REE x activity factory Sally s TEE = 1710 kcal x 1.3 Sally s TEE = 2224 kcal/day
5 To lose 1-2 pounds per week, Sally should be consuming 500 kcal less per day than her recommended calories. Therefore Sally should be consuming approximately kcal/day to lose 1-2 pounds per week. Protein Recommendations: 1724 kcal/day (10%) = 172 kcal/day protein / 4 g/kcal = 43 g protein/day 1724 kcal/day (35%) = 603 kcal/day protein / 4 g/kcal = 150 g protein/day g protein/day Carbohydrate Recommendations: 1724 kcal/day (45%) =776 kcal/day CHO / 4 g/kcal = 194 g CHO/day 1724 kcal/day (65%) =1120 kcal/day CHO / 4 g/kcal = 280 g CHO/day g CHO/day Fat Recommendations: 1724 kcal/day (20%) =345 kcal/day fat / 9 g/kcal = 38 g fat/day 1724 kcal/day (35%) =603 kcal/day fat / 9 g/kcal = 67 g fat/day g day/day iii. Prognosis Life expectancy for individuals with PWS is near-normal. If diagnosed early and a treatment plan is appropriately put in place, many can live healthy lives. The main concern is complications of uncontrolled obesity. Other possible complications include type 2 diabetes, right-sided heart failure, and bone (orthopedic) problems. Essential to a good outcome include the right nutrition education to caregivers of a controlled environment, speech, physical, and occupational therapy.
6 Client 24-Hour Recall: Breakfast 2 cups frosted flakes Calories 300 Servings 2 bread AM Snack 1 cup whole milk 1 medium banana milk 1 fruit Lunch 2 T. Peanut Butter 1 Ham and Cheese Sandwich: meat 4 oz. ham meat 2 oz. cheese milk 2 slices white bread bread 1 T. Mayonnaise fat 1 medium apple 75 1 fruit PM Snack 1 cup vanilla ice cream milk + 1 fat Dinner 3 oz. steak meat 1 medium baked potato 1 T. butter ½ cup green beans bread 3 fat 1 vegetable 1 cup strawberries 60 2 fruit Total 2,315 1 vegetable 5 bread 4 fruit 2 dairy 4.5 meat 6 fat
7 Client Disease Instruction Materials: Nutrition: In 2011, the USDA replaced the Food Pyramid with My Plate. My Plate is a guide consisting of a diagram of a plate and glass which is divided into five food groups. It represents the relative portions of foods to eat each day to maintain a healthy weight and body for adults. Before the Food Pyramid was replaced, the USDA created a Food Pyramid usable for individuals with Prader-Willi syndrome. Even though this pyramid has not been updated, it is still appropriate and can be used for individuals with this condition. PWS Food Pyramid: Decreased number of daily servings for each food group to reduce the total calorie count for weight loss or maintenance. Vegetable group o Base of pyramid o 6-8 servings/day o Low in calories and fat to allow a large volume of food to be eaten without additional calories. Bread group o Cereal, pasta, rice starchy vegetables o 3-5 servings/day Fruit group o Fresh fruit, canned fruit, and dried fruits o 4 servings/day (1 at each meal and 1 for snack) o Good source of fiber and vitamins Milk group o Yogurt, milk, and cheese
8 o 2 servings/day o Nonfat or low in fat Meat group o Meat, fish, poultry, eggs, peanut butter, and cooked dried beans o Nuts should be avoided due to high fat o 1-2 servings/day (2 oz./serving) Fats, Oils, and Sweets o Butter, margarine, regular dressing, candy, sugars, sweets, fatty desserts, gravy, fried foods, etc. o Should be limited to once a week for a 1,200 calorie plan Serving Sizes: The serving sizes on the PWS Pyramid are unchanged from the USDA Food Pyramid with the exception of the meat group. Vegetable: 1/2 cup cooked or 1 cup raw Bread: 1 slice bread; 1/2 cup rice, pasta, or starchy vegetable; 1 oz. cereal Fruit: 1/2 cup canned, 1/2 cup or 1 piece fresh, 1/4 cup dried; 1/2 cup juice Milk: 1 cup skim milk or lite yogurt, 1 oz. cheese, 1/2 cup frozen fat-free sugar-free yogurt Meat: 2 oz. cooked lean meat, fish, or poultry; 1 egg, 1/2 cup cooked dried beans; 1 tablespoon peanut butter Sample Menu (Recommendations after assessing 24 hour recall): Breakfast 3/4 cup oatmeal Calories 150 Servings 1 bread 1 cup skim milk 80 1 milk AM Snack ½ cup peaches 1 medium banana fruit 1 fruit Lunch 2 rice cakes 1 Ham and Cheese Sandwich: bread 2 oz. ham meat 1 oz. low-fat cheese 60 1 milk 2 slices white bread bread 1 cup carrots 25 1 vegetable
9 1 medium apple 75 1 fruit PM Snack 1 cup celery 25 1 vegetable Dinner 2 oz. steak meat 1 medium baked sweet potato 1 t. cinnamon 2 cups side salad 1 T. fat free dressing ½ cup green beans bread -- 2 vegetable -- 1 vegetable 1 cup strawberries 60 2 fruit Total 1440 kcal 5 vegetable 5 bread 5 fruit 2 milk 2 meat Exercise: Increase physical activity to 45min./day, 5 days/week Join some type of club or team that revolves around physical activity such as a sports team. Switch up physical activity to vary muscle groups that are involved. Sample exercise regimen: Monday Tuesday Wednesday Thursday Friday Bike ride outside Swimming at the fitness club Tennis at the fitness club Walk dog outside Fitness class at the fitness club (ex. yoga, spinning, etc.) Other recommendations: Continue taking multivitamin and calcium supplements
10 References A reduced energy intake, well balanced diet improves weight control in children with Prader Willi syndrome - Miller Journal of Human Nutrition and Dietetics - Wiley Online Library. (n.d.). Retrieved from se The Changing Purpose of Prader-Willi Syndrome Clinical Diagnostic Criteria and Proposed Revised Criteria. (1996). Retrieved from Growth Standards of Infants With Prader-Willi Syndrome. (2011). Retrieved from Medical Home Portal - Nutrition and diet in Prader-Willi syndrome. (n.d.). Retrieved from Nutritional phases in Prader Willi syndrome - Miller American Journal of Medical Genetics Part A - Wiley Online Library. (n.d.). Retrieved from Population prevalence and estimated birth incidence and mortality rate for people with Prader- Willi syndrome in one UK Health Region -- Whittington et al. 38 (11): Journal of Medical Genetics. (2001). Retrieved from Prader-Willi Association (USA). (n.d.). Retrieved from Prader-Willi Food Pyramid. (n.d.). Retrieved from
11 Prader-Willi syndrome - Genetics Home Reference. (n.d.). Retrieved from Prader-Willi syndrome Treatment at Mayo Clinic - Diseases and Conditions - Mayo Clinic. (n.d.). Retrieved from
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