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TODDLER WITH WILLIAM’S SYNDROME OUTPATIENT GENERAL NUTRITION CHILDREN’S NATIONAL MEDICAL CENTER ANGELA SBODIO DIETETIC INTERNSHIP UNIVERSITY OF MARYLAND COLLEGE PARK


OBJECTIVES • Overview of Condition • Meet Toddler Girl • Nutrition Assessment • Home Plan • Summary


OVERVIEW OF CONDITION


WHAT IS WILLIAM’S SYNDROME? • Definition: Williams Syndrome (WS) is a developmental disorder that affects different parts of the body. It is characterized by mild to moderate intellectual disability or learning problems, distinctive facial features, and heart and blood vessels (cardiovascular) problems. • William’s Syndrome is inherited in an autosomal dominant manner.


WHAT IS WILLIAM’S SYNDROME? • GENETICS: People with WS have one copy of chromosome 7 normal and the other copy of chromosome 7 is missing a piece of genetic material of the long arm. WS is caused by the missing piece of chromosome 7q11.23.

• Testing: via chromosomal microarray, which identifies the deletion of chromosome 7q11.23


WILLIAM’S SYNDROME • Facial Features: • • • • •

Broad forehead Short flat nose Full cheeks Wide mouth with full lips Dental problems such as small teeth.


WILLIAM’S SYNDROME • Cardiovascular Diseases: • Supravalvular aortic Stenosis: left untreated will cause left heart failure.

• Pulmonary artery branch Stenosis: left untreated will cause right heart faiure.


MEET A.R.


BACKGROUND • Born: August 1st, 2015 via C-section due to fetal distress at 39 weeks gestational age at WHC. • Birth Weight: 5 lb 11 oz (1st percentile) • Birth Length: 18 inches (<2nd percentile) • At one month old, AR arrived at CNMC with breathing difficulty. • Cardiology • ECHO: supravalvular aortic and pulmonary stenosis • Suspect Williams Syndrome and sent to Genetics • Chromosomal microarray showing Williams syndrome on 9/2015 (A deletion of chromosome 7q11.23 was identified)


NUTRITION ASSESSMENT


INITIAL NUTRITION ASSESSMENT PLAN • Continue to offer three meals plus snacks per day • Offer high fat foods and add extra oil/butter to foods • Offer 16 oz Pediasure plus additional whole milk • Follow up 3 months.


3-MONTH FOLLOW-UP


ANTHROPOMETRICS • • • • • • •

Age: 17 months Weight: 7.825 kg, 1%ile Height: 72.4 cm, <1%ile Weight for Length: 13%ile IBW: 8.7 kg, 90%IBW Goal rate of weight gain: +6-7 g/day Head Circumference: 45 cm, 10th percentile


GROWTH CHARTS


GROWTH CHARTS


MEDICATIONS • Poly-Vi-Sol Drops: Multivitamin supplement: 1 ml daily • Ranitidine (Zantac): gastroesophageal reflux disease; 15 mg/ml oral syrup, 1ml, PO, BID, 2 refills


24-HOUR RECALL • • • • • • • • • • • •

9:00 am 1 cup cereal (cheerios), ½ c fruit 10:00 am 4 oz. Pediasure 11:00 am 4 oz. milk, 2 oz. Pediasure 12:00 pm 1 small bowl chicken vegetable soup 12:45 pm 2 oz. Pediasure 1:30 pm ¼ c Jell-O 2:30 pm ½ cup fruit 3:00 pm 4 oz. Pediasure 6:00 pm beans, bread, broccoli, water 8:00 pm Pediasure 4 oz. 10 pm Pediasure 4 oz. 1:00 am Pediasure 2 oz.


PES STATEMENT


PES STATEMENT â&#x20AC;˘ (NC-3.1) Underweight related to Williams Syndrome as evidence by patientâ&#x20AC;&#x2122;s weight at the 1st percentile on the weight-for age growth chart.


ENERGY REQUIREMENT • Kcals/g: 102 kcal/kg ( based on RDA for 1-3 years female)= 798 kcals/day • Grams of Protein/kg: 1.6 g protein/kg (based on DRI for age)= 12.52 g protein/day • Fluid: 783 ml/day (Holliday-Segar Method)


ASSESSMENT OF GROWTH â&#x20AC;˘ Based on the growth rate chart, toddler girls aged 12-18 months, the daily catch up weight gain should be: 6 grams/day. â&#x20AC;˘ Since last assessment patient has gained an average of 7 g/day which is appropriate for age. The patient is within normal growth rate for her age, still underweight at 1%ile.


RECOMMENDATIONS


RECOMMENDATIONS • Continue to offer three meals plus snacks per day. • Offer high fat foods and add extra butter oil/butter. • Continue 16 oz. Pediasure daily to provide 61 kcal/kg, 1.8 g protein/kg, and 61 ml/kg (480 Kcals, 14 g protein, and 440 ml). The patient is getting ~60% of her Estimated Energy needs from Pedisaure only. • Follow-up in 3 months


GOALS


GOAL â&#x20AC;˘ The main goal for this patient is to continue gaining proportional growth via supplemental feeds, because her height could be impacted by the Williamâ&#x20AC;&#x2122;s Syndrome.


SUMMARY


SUMMARY • Mom reports stenosis condition is improving. A.R. seen by dentist, per mom, patient’s dental health is in good condition. • Since last assessment patient has gained an average of 7 g/day which is appropriate for age, weight for length improved from 6%ile to 13%ile. A.R. appears small for age but well nourished. • Recommended mom to continue with same meal plan. • To Successfully manage Williams Syndrome and to avoid health implications, it may require collaboration between providers (interdisciplinary health team: Neuropsychology, Occupational Therapy, Endocrinology, Cardiology, and Dietitian)


THANK YOU Special Thanks to Colleen, Laura, Sara, Angela and Kayla who taught me so much during this rotation.

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