Transcript File - Sara Vincenzi Portfolio

Rett Syndrome in the Pediatric
Population
Sara Vincenzi
Sodexo Dietetic Intern
What is Rett Syndrome?
• “Rett syndrome is a rare genetic disorder that
affects the way the brain develops. It almost
exclusively occurs in girls”
• -the Mayo Clinic
Disease progression:
• Normal development from birth-6 months
• Rett syndrome (or RTT) is a progressive disease,
broken into 4 stages.
▫ Results in increased difficulty w/motor
development and related tasks.
Stage 1:
• Symptoms are vague
• Typically diagnose at 6 months of age
▫ When signs of slowed development appear.
• Stage 1 typically lasts from 6 months of age to
one year.
Stage 2:
• Generally from age 1-4.
• Onset lasts a mere weeks to months.
• Rapid destruction in motor function & loss of
muscle coordination.
▫ Classic hand movements seen in this stage.
Stage 3:
• Child plateau’s in terms of disease progression.
▫ Symptoms still present, but no further
progression.
• Behavioral symptoms may improve.
• Girls stay in this stage for most of their lives.
Stage 4:
• Remain in this stage for decades
• Further decreases in mobility.
▫ Spinal issues, muscle rigidity & weakness,
increased muscle tone, abnormal body posturing.
• Cognitive decline generally NOT seen.
How does RTT occur?
• Mutation in MECP2 –a gene
• Controls MeCP2 protein
▫ Vital to brain development.
▫ Biochemical ‘switch’.
• What happens in the MeCP2 mutation?
Girls w/RTT vs. Boys
XX chromosome
XY chromosome
• On in every 10,000-15,000
• MECP2 on X chromosome.
▫ Have a ‘back-up” X.
• Severity determined by
amount of expression.
▫ MECP2 turned off or on in
cells.
• No ‘back-up’ X chromosome.
• Disease will be more
destructive and severe as a
result.
• See signs immediately after
birth.
▫ No clinical symptoms.
• Often die shortly after.
▫ Only a small amount live
past birth.
Diagnosis:
• Three types of criteria needed
▫ Main, supportive, & exclusion.
• Diagnosis confirmed by a clinical geneticist, a
developmental pediatrician, or a pediatric
neurologist.
Focuses of treatment:
• Different focuses to lessen the symptoms.
• Antiepileptics
• Physical and speech therapy
• Nutrition support
Nutritional Impact:
• Important for normal growth
• Higher calorie requirements
• Nutrition support
▫ NG or OG tube
GI symptoms:
• Difficult to assess and seldom studied/reported on.
• GI dysmotility or other issues related to feeding.
▫ Chewing/swallowing diffculties, extended feeding
time.
• VBS and upper GI series tests most common
procedures for diagnosing.
• ¼ of the cohort had a gastrostomy placed.
GI symptoms:
• Similar to those reported by parents’ of children
w/autism spectrum disorder
• Good appetite otherwise
▫ Better w/modified texture & thickened liquids
• But increased feeding time
MNT: Justice et al.
• Found that neuron function can return if MeCP2
is reintroduced.
• Hemizygous male mice
▫ Mutation in gene coding for rate-limiting step in
cholesterol synthesis.
 Had altered brain and systemic cholesterol
metabolism as a result.
• Determined that dz progression and symptoms
caused by defect in lipid metabolism.
Justice et al. cont’d.:
• Role of cholesterol in brain function
▫ Too large to cross blood-brain barrier
• Atypical mitochondrial development
▫ Increased prevalence of metabolic syndrome
▫ Leading to buildup of ROS
• Tight regulation of cholesterol homeostasis
Justice et al. cont’d.:
• 84 pediatric girls w/RTT studied
▫ Looking at lipid panels
▫ Had consistently higher lipid levels, all other labs
WNL.
• 0-4.9 years: 52% had elevated lipids
• 5.0-9.9 years: 44% had at least one elevated lipid
marker
• 10-19 years: 30% had at least one elevated lipid
marker.
MNT: Felice et al.
• Possibility of treatment w/omega 3 fatty acids
• 20 children in stage 1
▫ Randomized into one of two groups.
• Looking at primary & secondary outcomes
Felice et al. cont’d.:
• Primary outcomes measured via a clinical
severity score
▫ Parent’s encouraged to videotape children to
examine any clinical changes
• Secondary outcomes measured via blood
sampling
▫ Nonprotein bound iron and various end products
Felice et al. cont’d.:
• Noticeable decrease in CSS criteria seen in
supplement group.
▫ Observed in videos provided by parents.
• No differences seen on secondary markers in
either group.
Presentation of the Pt.:
• C.D.
▫ 11 years old
▫ Admitted to LVCH March 2nd, 2015
• Admitting dx: ‘seizure disorder’
• Adopted
▫ Family hx unknown
• Birth/developmental hx
• 3-5 seizures per week
Recent diagnostic tests:
• MRI in April 2014
▫ Results normal relative to her current state.
• VBS in September 2014
▫ No further evidence of penetration or aspiration
w/thin or thick liquids.
Meds & labs:
• Medications:
▫ 100 mL D5 ½ NSS, Cerebyx, Vimpat, Carnitor,
Ativan, Dilantin, Xantac.
• Labs: WNL aside from the following
▫ BG: 107, creatinine: 0.25, Ca: 8.9, AST: 15,
Mg: 2.0
Complete lab panel:
H/H:
13.9/39.2
MCV: 104
MCH: 36.8
BG:
107
BUN:
13
Creat: 0.25
Na:
142
K:
3.9
Albumin: 4.0
Ca:
8.9
PRO total: 6.6
AST:
15
ALT:
30
Alk phos: 277
Mg:
2.0
Drawn March 3rd ,2015
Bolded values are
below normal limits
Italicized values are
above normal limits
Anthropometrics:
• Ht: 63 in/136 cm
• DBW: 66 lb/30 kg
▫ C.D. @ 93% DBW
• Wt: 51.4l b/23.4 kg
▫ 2 days later: 27.9 kg
• BMI: 15 kg/m2 k
• Wt-for-age: 5th percentile
• Ht-for-age: 10th percentile
• BMI: 10th percentile
▫ Validates dx of FTT
Home diet regimen:
• A soft food oral diet
▫ Variable intake each day
• 4 oz. PediaSure 1.5 Cal TID via PEG after meals
▫ 240 mL
▫ Another 4 oz. given at night
▫ 4 boluses total-16 oz. per day
PediaSure 1.5 Cal:
• Macronutrient breakdown: per 8oz. can
▫ CHO: 38g (43%)
▫ PRO: 14g (16)
▫ Lipid: 16g (41)
• Designed to meet 100% calcium and vit D DRI’s
for children ages 9-13 in 1500 mL of formula.
RDA’s:
• C.D. falls in the 11-14 yr age bracket
▫ 55 kcal/kg or 16 kg/cm of ht.
▫ Between 1600-2000 kcal/day
Estimated needs: Calories
• Estimated using the WHO equation:
▫ 12.2W(kg) + 746 (11) = 1031 kcals
▫ Activity/stress factor: 1.3-1.5
▫ Total kcal: 1340-1546 kcal/day
 58-67 kcal/kg
Estimated needs: Protein & fluid
• RDA ages 7-14 is 1.0 g/kg/day.
▫ At 23.4 kg, her protein needs are 23 g/day
• Fluid calculated using the Holiday-Seagar
method:
▫ If >/20 kg, 1500mL + 20mL/kg >20kg
▫ 1500mL + 20mL(3.4kg) = 1568mL/day
 67 mL/kg
Needs summary:
• Kcal: 1340-1546 (58-66 kcal/kg)
• Protein: 23 g/day (1.0 g/kg)
• Fluid: 1570 mL (67 mL/kg)
Nutrition diagnosis statement:
• “Inadequate oral intake (NI-2.1) related to
physiologic causes as evidenced by insufficient
intake to meet needs, need for EN/TF”.
Interventions:
• Pediatric diet: ages 4-14
• Meals and snacks when able & tolerated.
• EN similar to home regimen.
Comparing formulas:
PediaSure 1.5 Cal-
PediaSure w/fiber 1.0 Cal-
▫ Per 8 oz. can
• CHO: 38g (41%)
• PRO: 14g (16%)
• Fat: 16g (41%)
▫ Per 8 oz. can
• CHO: 34g (54%)
▫ 3g dietary fiber
▫ 1.5g scFOS
• PRO: 9g (34%)
• Fat: 7g (12%)
Nighttime feeds?
• Continuous @ night to stimulate daytime
appetite.
• 8pm-6am @55mL/hour
Summary:
Occurring in 1 in 10,000 to 1 in 15,000 girls
Brain cholesterol synthesis & RTT progression
Omega-3 fatty acids in stage I.
Enteral nutrition
No current treatment
Grace for Rett. The DSM 5 in plain English [is Rett syndrome autism?. Grace for Rett; February 2014. Available at:
http://www.graceforrett.com/rett-syndrome/r168x/the-dsm-5-in-plain-english-is-rett-syndrome-autism/. Accessed on: March 9, 2015.
Rett Syndrome Research Trust. Rett Syndrome. Rett Syndrome Research Trust; 2015. Available at: http://www.rsrt.org/rett-andmecp2-disorders/rett-syndrome/. Accessed on: March 9, 2015.
Mayo Clinic. Diseases and conditions: Rett syndrome. Mayo Clinic; October 2012. Available at: http://www.mayoclinic.org/diseasesconditions/rett-syndrome/basics/definition/con-20028086. Accessed March 9, 2015.
National Institute of Neurological Disorders and Stroke. Rett syndrome fact sheet. Nat’l Institutes of Health; February 2015. Available
at: http://www.ninds.nih.gov/disorders/rett/detail_rett.htm. Accessed on: March 9, 2015.
DeWeerdt S. Reclassification of Rett syndrome diagnosis stirs concern. Simons Foundation Autism Research Initiative; July 2011.
Available at: http://sfari.org/news-and-opinion/news/2011/reclassification-of-rett-syndrome-diagnosis-stirs-concerns. Accessed on:
March 10, 2015.
American Psychiatric Association. DSM. American Psychiatric Association; 2015. Available at:
http://www.psychiatry.org/practice/dsm. Accessed on: March 10, 2015.
Motil KJ, Caeg E, Barrish JO, Geerts S, Lane JB, et. al. Gastrointestinal and nutritional problems occur frequently throughout life in girls
and women with Rett Syndrome. J Pediatr Gastroenterol Nutr. 2012; 55(3): 292–298.
Justice MJ, Christie Buchovecky et al. A role for metabolism in Rett syndrome pathogenesis. Rare Diseases; 2013. Available at:
http://www.tandfonline.com/doi/abs/10.4161/rdis.27265#.VPh_-Wd0zIU. Accessed on: March 29, 2015.
Felice CD, Cinzia Signorini et al. Partial rescue of Rett syndrome by omega-3 polyunsaturated fatty acids (PUFAs) oil. Genes Nutr; 2012.
Available at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380188/. Accessed on: March 30, 2015.
Abbot Nutrition for Healthcare Professionals. PediaSure 1.5 Cal. Abbott Nutrition; 2015. Available at:
http://abbottnutrition.com/brands/products/pediasure-1_5-cal. Accessed on: March 26, 2015.
Pediatric Nutrition Quick References. ASPEN Peds Core Curriculum;2010. Pediatric Nutrition Handbook; 2004. Pocket Resources for
Nutrition Assessment; 2008. Accessed on: March 26, 2015.
Abbott Nutrition for Healthcare Professionals. PediaSure enteral formula 1.0 Cal w/fiber. Abbott Nutrition; 2015. Available at:
http://abbottnutrition.com/brands/products/pediasure-enteral-formula-1_0-cal-with-fiber. Accessed on: March 26, 2015.