Nutrition Focus Vol. 23 #6 November/December 20081

FOCUSVolume 23, No. 6 November/December 2008

N u t r i t i o nfor children with special health care needs

ceNter oN humaN DeVelopmeNt aND Disability, uNiVersity oF washiNgtoN, seattle, washiNgtoN

Nutrition Management of Children with Rett Syndrome: An Update

INTRODUCTIONWith the identification of the “Rett gene”

in 1999, much has been learned in the last decade about the etiology and diagnosis of Rett Syndrome (RTT). RTT, first described in 1966 by Andreas Rett, is now considered a neurodevelopmental disorder, rather than a degenerative disorder. It is the result of a spontaneous genetic mutation which has a prevalence of 1:10,000 to 1:20,000 in females.1 RTT is an X-linked dominant dis-order, found predominantly in females, and occurs equally in all ethnic groups.

The “Rett gene” is actually a variety of mutations of the gene encoding Methyl-CpG-binding protein 2 (MECP2), a protein that affects neurons in the brain.2 A small but growing number of males have been diagnosed with “Rett Mutations”; how-ever, the clinical presentation differs from that of classic RTT.3,4 Some males present early in life with failure to thrive, profound developmental delay and respiratory failure requiring home ventilator support. Other male phenotypes include x-linked mental retardation, spasticity, and frequent respira-tory infections or Klinefelter Syndrome.

Historically, RTT was often misdiag-nosed as autism or cerebral palsy and could take years to diagnose. The International Rett Syndrome Foundation (IRSF) has made an effort to increase awareness of the disorder and improve the time to diagnosis and intervention (RESOURCE 1). An ongo-ing natural history study, supported by the

Office of Rare Disease and the National Institutes of Health, is currently being con-ducted through Baylor College of Medicine, Houston, Texas; Greenwood Genetic Center, Greenwood, South Carolina; and the Univer-sity of Alabama, Birmingham, Alabama. The goal is to study 1000 individuals with RTT for approximately 8 to10 years in order to gain valuable knowledge about the disorder and effective interventions. Over 700 partici-pants, both females and males ranging in age from 8 months to 67 years, have enrolled in the study. The research endeavor focuses on characteristics of the disorder, therapeutic interventions, and quality of life. Nutrition screening and intervention are essential to support the physical and emotional wellness of a growing patient population. RTT is a lifelong disorder, currently without a cure. There are many research efforts underway

worldwide to find a cure for RTT and pro-vide supportive therapeutic interventions and family adaptation.

Diagnosis of Rett SyndromeThe frequency of the diagnosis of RTT

has increased because of the increased atten-tion to autism spectrum disorders. Because MECP2 mutations may be associated with disorders such as autism and schizophrenia, the diagnosis of Rett syndrome is based on meeting consensus criteria in the presence or absence of the MECP2 mutation.5 See Tables 1 and 2. Ninety-five percent of individuals who meet the criteria for RTT will have a known MECP2 mutation. Although over 250 MECP2 mutations have been identified, as few as eight common mutations account for more than 60% of girls with classic RTT.6 MECP2 is a large and complex gene.

Gail Seche, MMSc, RD, CSPDevelopmental and Behavioral PediatricsChildren’s Hospital and Research Center OaklandOakland, California

Suzanne Geerts, MS, RDCivitan-Sparks ClinicsUniversity of Alabama at BirminghamBirmingham, Alabama

the listing of commercial products is only for informational purposes and does not indicate endorsement. also, be aware that products change frequently.

Table 1: Rett Syndrome Consensus Criteria (must be present for the diagnosis)• normal perinatal history

• psychomotor development largely normal through the first six months (may be delayed from birth)

• postnatal deceleration of head growth• loss of achieved purposeful hand skill between ages six months and 2.5 years • stereotypic hand movements such as hand wringing, squeezing, clapping, tapping,

mouthing, washing, and rubbing • emerging social withdrawal, communication dysfunction, loss of learned words, and

cognitive impairment • impaired (dyspraxic) or failing locomotionFrom hagberg b, et al. an update on clinically applicable diagnostic criteria in rett syndrome: european Journal of paediatric Neurology. 2002; 6:293-297.

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Specialty testing centers perform labora-tory analysis to identify MECP2 mutations by sequencing, deletion, and duplication analyses.

Results of research comparing the phe-notypic expression of different MECP2 mutations are now available.7 Understand-ing the genotype-phenotype relationship allows individualized therapies that more effectively treat the clinical features of RTT. Table 3 illustrates the characteristics of dif-ferent mutations that predict an individual’s ability to walk independently, have hand use, and spoken language. For example, R168X appears to be associated with a more pro-nounced disease state with less likelihood to achieve certain functions.

Growth and development appear normal in girls with RTT until 6 to 18 months of age when regression or loss of developmental milestones occur. The earliest signs of pre-regression may be seen at three months and may include hypotonia, decelerated head growth and poor weight gain. The stereo-typic hand movements (including hand wringing, tapping, and mouthing) emerge once regression occurs (age 1-4 years). Typi-cal speech development usually is absent, but girls often communicate with eye gaze or the use of augmentative communication devices. Cognitive impairment is variable and hard to classify because typical IQ test-ing cannot be administered in the absence of speech and hand movement. The post regression period from childhood to adult-hood is characterized by fewer seizures and increased engagement with people and the environment. Symptoms stabilize between ages 15-20 years at which time individuals with RTT are described as being happier and having a more pleasant demeanor.

Frequent medical issues and Nutrition Diagnoses in rtt

Percy and Lane offer a general over-view of medical issues that are common in RTT.8 Three additional references provide a detailed look into medical issues, impact on feeding skills, and therapeutic interven-tions.9,10,11 Table 4 summarizes the medical conditions commonly seen in RTT that are nutrition related. The widely used Rett Syn-drome Handbook (RESOURCE 2) provides practical information on many of these is-sues as well as care techniques.12

Because of the frequency of medical complications, most individuals with RTT are cared for in a pediatric hospital setting by a number of pediatric specialists includ-ing neurology, gastroenterology, surgery, physical medicine and rehabilitation, and orthopedic surgery. Many individuals are also referred to early intervention programs. Some individuals are referred to a registered

dietitian (RD) for nutrition care. Many individuals are eligible for assistance via Special Supplemental Nutrition Program for Women, Infants and Children (WIC) or state medical programs. A family centered team approach provides coordinated care.

With early diagnosis and supportive medical care, many individuals with RTT survive into adulthood. Nutrition care principles of adults with RTT are similar to those of adults with other developmental disabilities. Nutrition care suggestions for adults with RTT have been described in the recently released DVD: The Adult with In-tellectual and Developmental Disabilities-a Resource Tool for Nutrition Professionals (RESOURCE 3).

Nutrition Screening and Assessment

Many individuals with RTT are consid-ered to be at high nutrition risk because of the medical issues described in Table 4. Risk can be identified using standard hospital and clinic protocols that include medical history, growth assessment, laboratory tests, detailed diet records and social history. Following the assessment the nutrition care plan/process can be developed and implemented with input from the medical team and family.

table 3: percentage of individuals with specific MECP2 mutations that retain Functional ability

Differences between all mutation groups were observed for ambulation, hand use, and language. Pair-wise testing between specific mutation groups revealed differences (p<0.05) shown by the asterisk (*) or the number sign (#).

genotype n walks alone (%)

uses hands (%)

uses words (%)

R106W 9 33 56 33R133C 12 75 92* 50 *T158M 30 60 50 27R168X 29 28 * 38* 3 *R255X 32 38 59 28R270X 18 44 67 22R294X 14 86 * 86 50 *R306C 21 67 52 10 #

c-terminal truncations 17 82 * 88* 71 *#

large deletion 17 41 53 12 #

other mutations 37 43 78* 41 *no mutation 9 33 78 33

Neul Jl, Fang p, barrish J, et al, 2008

table 2: rett syndrome supportive criteria (not necessary for the diagnosis)

• disturbances of breathing (hyperventi-

lation, breath-holding, forced expulsion of air or saliva, air swallowing) when awake

• teeth grinding (bruxism) • impaired sleep pattern from early infancy • abnormal muscle tone successively

associated with muscle wasting and dystonia

• peripheral vasomotor disturbances (cold, blue hands and feet)

• scoliosis/kyphosis • growth retardation • small feet; small, thin handsFrom hagberg b, et al. an update on clinically applicable diagnostic criteria in rett syndrome: european Journal of paediatric Neurology. 2002; 6:293-297

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Nutrition goals include:• A well balanced, texture-modified diet

with adequate energy, protein, calcium and vitamin D

• Maintenance of an acceptable weight for height or body mass index

• Identify and initiate appropriate feeding methods

• Management of co-morbid conditions such as growth failure, low bone mineral density, GERD, dysphagia, constipation, or dehydration.

The energy needs of children with RTT are not yet well defined; at a minimum, the Dietary Reference Intake (DRI) for energy is used. Motil, et al studied total daily en-ergy expenditure and the metabolic effect of repetitive involuntary movement in girls with RTT. Total daily energy expenditure

was 42% lower in girls with RTT than in unaffected girls because of their lower lean body mass.18 The intensity of repetitive mo-tor movement is not sufficient enough to increase total daily energy expenditure to the extent that normal play activity does in unaffected girls. Increasing dietary energy to promote weight gain may result in increased linear growth, body fat, and lean body mass19. More research on nutrition needs and outcome is currently underway. Rate of sexual maturation and onset of menses is commonly age appropriate despite the fact that many girls remain small for age.

A videofluoscopy swallow study may be necessary for those individuals with difficulty chewing and swallowing. The placement of a gastrostomy feeding tube may be needed for those with swallowing difficulties and/or who are unable to maintain a healthy weight or hydration. A recent survey of 983 individu-als with RTT indicated that 28% had feeding tubes.20 A combination of oral and gastrostomy feedings may be the best approach for many with feeding problems, allowing for better nu-trition and hydration during illnesses, seizures and the period of regression. Safety and quality of life are both important factors to consider when educating families on alternative meth-ods of feeding.

rett syndrome growth charts The CDC Growth Charts: United States

currently are used to evaluate and track growth on typical curves as well as inter-preting “small for age” clients “on their own growth curve”. Data collected through the Rare Diseases Clinical Research Network natural history study has allowed for the development of specialty growth charts, birth to 18 years, for the RTT population.21 The RTT growth charts will include height/age, weight/age, head circumference/age and BMI/age and are intended to be used in conjunction with CDC growth charts. The growth charts should be available for clinic use in 2009. Anthropometric measurements should be monitored routinely every six months or more often if the medical condi-tion dictates.

Nutrition interventionsIndividualized care plans need to be es-

tablished as each child is unique. It may also be necessary to refer to a gastroenterologist or feeding team if medical or feeding prob-lems are complex. Feeding strategies are listed in Table 5.

table 5: possible interventions for persons with rtt and complex feeding

problems• Provide proper body positioning and a

calming feeding environment • Encourage breathing, give visual cues

to prepare for spoonfuls• Alternate feeding assistants when

possible to avoid feeding refusals due to caregiver illness/teacher medical leave, etc

• Increase calories and protein in diet when indicated to promote growth by using fortified foods, frequent feedings and/or nutrition supplements

• Modify textures as indicated (mashed, chopped, pureed, etc)

• Ensure adequate intake of calcium and vitamin D

• Thicken liquids in presence of aspiration or choking on thin liquids

• Give product selection advice on vitamin/mineral supplements when indicated

• Increase fluid and fiber intake if constipation is present. Medication is often necessary to establish adequate stooling patterns

• CPR training is highly recommended for all caregivers for choking episodes

• Be on alert for food allergies/intolerances/aversions

• Use behavior modification strategies for picky eaters or food aversions

• Clear diet instructions/orders need to be in place at home, daycare and schools

• Plan diet modifications if co-morbid conditions exist (i.e. celiac disease, diabetes, obesity, etc.)

• Adjust diet for all phases of puberty and reevaluate when adult status has been attained

• Stimulate oral/motor function on a routine basis with feeding/OT exercises

• Use adaptive feeding equipment as appropriate

• Encourage self-feeding if possible. May allow 10–15 minutes to self-feed and then offer feeding assistance to finish the meal

• Feeding tube placement may be indicated for feeding and/or hydration

• Offer suggestions for preoperative feeding if scoliosis surgery is anticipated

table 4: common medical issues with Nutrition implications in rett syndrome • Growth failure• Upper gastrointestinal complica-

tions: gastroesophageal reflux disease (GERD), gastroparesis, aspiration

• Dysphagia: orophayngeal incoordi-nation (may require gastrostomy) or sensory/behavioral issues

• Inadequate hydration due to dys-phagia or lack of feeding ability

• Lower gastrointestinal complications: constipation, obstipation, bloating, air swallowing

• Irregular breathing patterns, air swal-lowing, anorexia

• Lack of purposeful hand use for self-feeding and hygiene

• Seizures, anticonvulsant use may result in altered appetite, lethargy13

• Anxiety/depression14 • Cardiac abnormalities: prolonged QT

syndrome15

• Hypotonia, dystonia, contractures• Altered body mass index: undernu-

trition or overnutrition relative to height

• Low bone mineral density, increased fratures16, inadequate calcium and vitamin D intake17

• Scoliosis: corrective surgery and preoperative nutrition support

• Poor dental health

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Treatment ResourcesThere are few dedicated Rett Syndrome

clinics in the country that provide ongoing evaluation and care to families and girls with RTT. (RESOURCE 4). One model is “Katie’s Clinic for Rett Syndrome” at Children’s Hospital and Research Center, Oakland. A multidisciplinary team meets monthly to review practices and evaluate girls with RTT from the entire state. Core team members include the neurologist, pediatrician, occupational therapist (OT), physical therapist (PT), speech pathologist, parent liaison and the RD.

The Ketogenic Diet (KD) has been used to treat seizure disorders in some individuals with RTT that are no longer responsive to antiepileptic drugs (AEDs). The goal of the KD is to induce a state of ketosis in order to improve seizure control. An example of the diet would be a 2:1 or 3:1 ratio (3 grams fat compared to 1 gram of protein and carbohydrate combined). See RESOURCE 5. The major risks of this therapy are poor growth, renal stones and decreased bone mineral density (BMD). There is also the issue of acceptance, compliance and the need for close monitoring. The KD can be a difficult diet to implement for those without a gastrostomy.

Vagal Nerve Stimulation (VNS) is a new-er therapy used to reduce the amount and/or severity of seizures. The treatment requires minor surgery to implant a pacemaker-like device that sends impulses to the brain via the vagus nerve. A magnet then activates the device before or at the onset of seizure activity to help stop the seizure.

VitalStim, a device that administers elec-trical stimulation to the musculature of the neck, is another therapy being considered for use in the treatment of swallowing dysfunc-tion in children with RTT. VitalStim has not yet been documented to improve feeding efficiency in children22.

A variety of medications and nutrition supplements may be used to treat the medi-cal and nutrition problems associated with RTT. Close attention should be paid to drug/nutrient interactions of AEDs. Parents who use the internet to find information on RTT often learn of herbal treatments or special diets that claim to aid in the treatment of RTT. Clinicians must be aware of this and

advise parents on the appropriate use of this information. Laboratory tests including free and total carnitine, vitamin D OH-25, CBC, and possibly zinc and folate may be neces-sary to monitor nutrition status. Dual-energy X-ray absorptiometry (DXA) is a useful tool to assess bone density and monitor the progression of bone demineralization.

SUMMARYThe complex nutrition issues in RTT

are ongoing and change over time. Indi-vidualized, multidisciplinary approaches to therapy should be implemented early in childhood and monitoring programs should be continued throughout adolescence and adulthood. The RD is an essential part of the multidisciplinary team, providing as-sessment of nutritional status and feeding issues. Therapeutic nutrition interventions, developed in a family centered manner, can maximize compliance and positive outcomes.

The natural history study, which will

continue through 2009 pending funding, has already begun to provide useful infor-mation to further the care of children with RTT. Genotype-phenotype relationships and Rett specific growth charts are just a few examples of how new information is applied to improve therapeutic interventions. Medical researchers dedicated to improv-ing our understanding of RTT continue to produce pertinent and practical work to answer the many questions about RTT that still remain.

Case study #1: Impact of seizures on nutrition status

Katie, a term baby weighed 3.5 kg at birth and had no perinatal problems. Her parents became concerned at four months of age when Katie appeared to be behind on motor development. She was described as a very easy baby, reaching for objects at 3-4 months, sitting independently at 6 months, though unable to push up to her hands or knees and unable to roll over until 14 months. She babbled with consonants and had some words by 8-10 months. Her weight during the first 8 months of life was consis-tent at the 50%. She breastfed until switched to soy formula at about 8 months, at which time she experienced some constipation. (See Katie’s growth chart –Figure 1).

She was first seen by a RD when admitted to the hospital at 15 months of age for fever, cough and vomiting. Her working diagnosis at that time was congenital hypotonia and developmental delay. Her anthropometrics revealed weight/age <3%, weight for height ~3% and microcephaly. Her diet history was significant for a limited variety of pureed foods due to milk and egg allergies (ecze-ma). The mainstay of her diet was 20-24 oz/d of calcium and vitamin D fortified soymilk, oatmeal, fruit, pasta, chicken and vegetables (125 calories/kg/d, 7 g protein/kg/d, 22% fat, adequate calcium, vitamin D, zinc, low intake of folate). She was attempting spoon feeding, holding her own bottle and learn-ing to drink from a cup. An occupational therapy evaluation revealed she had not yet developed her pincer grasp but was using her palmer grasp. There were significant delays in fine motor skills assessed at 7-9 months of age.

At 18 months of age a diagnosis of RTT was confirmed with a MECP2 mutation of R168x (see Table 3 for phenotypes). Katie’s weight had steadily increased, and she was taking a liquid multivitamin supplement with folate (Schiff brand). She had some choking and gagging with breads and cere-als, though no difficulty with thin liquids. She had been on Prevacid for two weeks with improved symptoms and intake. She had gained an average of 12g/day over the past 3 months (4-10g/day is normal for a healthy 1-3 years old) and was appearing chubby despite weight for length ~3%. At this time, nutrition goals were to maintain normal rate of weight gain and challenge with small amounts of milk products and egg. DEXA results indicate bone mineraliza-tion within normal limits for age. At Katie’s initial Rett Clinic visit at 2½ years of age she had no constipation. Her BMI plotted at the tenth percentile.

Just before Katie’s third birthday, the first signs of seizures occurred. Depakote and L-carnitine were started to provide seizure control. After six months, her parents were concerned about medication side effects resulting in increased sleepiness, decreased appetite and poor weight gain. A trial without medication lasted 6 weeks when seizure activity reoccurred and Lamictal was prescribed.

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At Katie’s visit to the Rett Clinic at 3 years 9 months of age, her parent’s main concerns were seizure control and limited tolerance of a variety of foods. She had experienced recent weight loss of one pound over two weeks due to seizures. AEDs now included both Lamictal and Keppra. Other medications and supplements included Prevacid, Carnitor and two teaspoons of Schiff’s liquid vitamins daily. Katie’s diet history was significant for loss of independent feeding skills, drooling while eating, drinking from a bottle, pureed table foods and persistent milk and egg allergies. Her usual intake was unchanged since 18 months of age. Fluid intake was about 31 oz/day. Mealtime averaged 30 minutes per meal. She used a wheelchair and did not walk. She received speech/augmented communication, occupational and physical therapy weekly.

A follow up visit to Rett Clinic when Katie was 4 years 8 months of age reveals a chubby, happy girl. However her BMI had decreased from the 25th to the 10th percentile. Interim events included a >50% decrease in fluid intake, constipation and refusal of chicken and veg-etables. She was also sleepier due to increased seizure activity, limiting her mealtimes. Katie’s

Figure 1: Katie’s anthropometrics

(g-tube placed)(ketogenic diet started)

(off keto diet x 3 months)

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parents worked with the RD who made recommendations for fluids and foods to promote variety and maintain/gain weight. High calorie liquid supplements were not recommended due to her diminished intake of fluids. Her parents also worked closely with the gastroenterologist and together decided it was time to explore a gastrostomy feeding tube (G-tube).

A multi-day cluster of seizures landed Katie in the emergency room for dehy-dration, and inability to take medication and nutrition. Shortly after, a G-tube was placed. A casein free children’s elemental formula was started but it was poorly toler-ated (emesis and abdominal pain). Soymilk, with a vitamin supplement, was begun. Oral feedings of pureed table foods continued, but now with less pressure for both Katie and her family. Miralax was discontinued now that her fluid intake was adequate and constipation was no longer an issue.

Six months later, Katie’s BMI had re-turned to >25% and her parents were now

preparing to begin a trial of the Ketogenic Diet. Katie was hospitalized four days to initiate the diet. The initial diet prescription: 3:1 ratio given as three meals and three G-tube feedings per day.

The formula recipe for the G-tube feed-ings included Ross Carbohydrate free for-mula, apple juice, safflower oil, water, and Nanovits, providing 1250 kcals, 20 gms protein with a minimum of 1000 ml/day.

After 6 months, Katie’s seizure response to diet was minimal, though she seemed more alert. Tolerance to the diet was poor, causing reflux, vomiting, and diarrhea. Her parents decided to slowly wean her from the ketogenic diet. Labs drawn nine months after beginning the diet revealed low-normal selenium, vitamin D and zinc.

Katie now consumes about ½ cup pureed food per meal. Mealtimes last 10-20 minutes and she is working with her OT to improve chewing skills. Feeding is fully assisted as she has not regained any fine motor skills to pick up, hold, or move objects to her mouth. She can take sips of water from a water bottle. Her daily intake includes plain soymilk, Neocate Jr powder, soy yogurt, oatmeal, pureed chicken, broccoli, carrots, red bell pepper, olive oil, salt, and water. No vitamin supplement. This intake provides 72 calories/kg/day (100% DRI/EER), 9 calories/cm (100% energy needs using equa-tion for moderately active children with very low energy needs), 100% DRI for protein, >200% DRI for calcium, 70% DRI for Vit D, 76% DRI Selenium, and 160% DRI zinc.

VNS surgery was planned a few months after her sixth birthday due to limited re-sponse to both anticonvulsant therapy and the ketogenic diet. Katie was demonstrating tonic-clonic seizures, staring spells, and drop attacks, occurring 3-5 times per day, 3-5 days per week. She occasionally became cyanotic with her spells. AEDs included Depakote and Trileptal. The VNS device was placed and activated with about 90% reduction in seizure activity.

Case Summary: This case illustrates mul-tiple interventions with a highly motivated and capable family. With seizures under better control, parents can now give more attention to bone health. Katie has been us-ing a stander, weight bearing for an average

of 45 minutes per day for over four years. Nutrition plans are to schedule a follow-up DEXA, recheck serum selenium, vitamin D and zinc and then restart vitamin supple-ment as needed. See Figure 2 for Katie’s picture.

Case Study #2: Use of Medical Formulas and Modular Component

Rachel is a 7-year-old female with Rett syndrome enrolled in the ongoing natural history study that requires clients to be seen every six months by the research RD. She is also followed by a local community RD from the state children’s rehabilitation ser-vice in clinic and at school. The school set-ting also has a nurse and assistants who care for her. She has a very attentive family.

General diet history:• Reported food allergies/intolerances:

citrus, blueberries, and Splenda • Oral/motor status – able to bite and

chew soft foods (school had tendency to overprocess her foods which she then would refuse)

• Feeding preferences – a favorite closed cup at home

• Meal times – ~20 – 30 minutes per meal with assistance

• Ambulation – unable to stand or walk without assistance or walking devices

• Therapies – occupational, physical and speech

• Communication – eye gaze

At age 6 years, seven months, Rachel was consuming a soft diet with frequent feedings. School lunches were selected by her parents and included fortified foods with added fats and 8 ounces of a nutrition supplement with fiber (1.5 kcal per ml). The study data re-vealed that Rachel showed very poor growth despite parent’s/schools efforts to fortify her foods. Please see Figure 3 for Rachel’s BMI growth chart and select anthropometric measurements.

Rachel had moved to a new school. Overall, status at school was reported as “declining awareness and weight loss” as a result of two illnesses in the past six months. Rachel’s constipation was treated with “natural applesauce”. The family, reported

Figure 2: Katie, age 6, and her dad.

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Selected References

1. percy aK, lane Jb, childers J, et al. rett syndrome: North american database. J child Neurol. 2007;22:1338-1341.

2. percy aK, lane Jb. rett syndrome: model of neurodevelopmental disorders. J child Neurol. 2005;20:718-721.

3. meloni i, et al. a mutation in the rett syndrome gene, mecp2, causes X-linked mental retarda-tion and progressive spasticity in males. amer Journal of human genetics. 2000; 67:982-985.

4. schanen Nc, et al. Neonatal encephalopathy in two boys in families with recurrent rett syn-drome. J child Neurol. 1998;13:229-231.

5. hagberg b, et al. an update on clinically ap-plicable diagnostic criteria in rett syndrome. european Journal of paediatric Neurology. 2002; 6:293-297.

6. percy aK. rett syndrome: recent research progress. J child Neurology. 2008;23:543-9.

7. NeulJL,FangP,BarrishJ,etal.Specificmuta-tions in methyl-cpg-binding protein 2 confer different severity in rett syndrome. Neurology. 2008; 70:1313-21.

8. percy aw, lane J. rett syndrome: clinical and molecular update. current opinion in pediatrics. 2004; 16:670-677.

9. motil K, et al. oropharyngeal dysfunctions and gastroesophageal dysmotility are present in girls and women with rett syndrome. J pediatr gastroenterol Nutr. 1999;29:31- 37.

10. morton re, et al. respiration patterns during feeding in rett syndrome. Developmental medi-cine & child Neurology. 1997;39:607-613.

11. oddy wh, et al. Feeding experiences and growth status in a rett syndrome population. J pediatr gastroenterol Nutr. 2007;45 (5):582-590.

12. hunter K. rett syndrome handbook, second ed. irsa publishing, 2007.

13. glaze D. Neurophysiology of rett syndrome. J child Neurol. 2005;20:740 - 746.

14. mcgill be, et al. enhanced anxiety and stress-induced corticosterone release are associated with increased crh expression in a mouse model of rett syndrome. pNas. 2006; 103 (48):18267-18272.

15.SekulEA,etal.Electrocardiographicfindingsin rett syndrome: an explanation for sudden death? J pediatr. 1994;125:80-82.

16. motil KJ, et al. bone mineral content and bone mineral density are lower in older than in younger females with rett syndrome. pediatr res 2008; 64:435-439

17. haas rh, et al. osteopenia in rett syndrome. J pediatr. 1997;131:771-774.

18. motil KJ, et al. increased energy expenditure associated with repetitive involuntary movement does not contribute to growth failure in girls with rett syndrome. J pediatr 1998; 132(2): 228-233.

19. motil KJ, et al. gastrostomy placement improves height and weight in girls with rett syndrome. J pediatr gastroenterol Nutr 2009 (in press).

Anthropometric measurements:Age Weight Height BMI Triceps skinfold Subscapular(years) (kg) (cm) (kg/m2) (mm) skinfold (mm)

6 7/12 16.6 (<3%) 109.2 (<3%) 13.99(10–25%) 11.2 (75%) 5.4

7 7/12 18.6 (3%) 113.4 (3%) 14.5 (25%) 13.2 (75%) 5.0

Figure 3: rachel’s bmi growth chart and select anthropometric measurements

possible reflux each morning. Some drooling occurs which the family manages with bibs. Rachel receives the medication Keppra for seizure control.

Rachel’s healthcare providers decided it was time to introduce the concept of G-tube placement to her family. The research study RD noted that the family showed little interest in this option. The decision was made to continue to work with the lo-cal RD, to encourage nutrition supplements and to find financial assistance for supplies. The MD felt Rachel’s scoliosis was start-ing to progress so the family was referred to orthopedics for monitoring. Rachel was also referred to a GI physician to evaluate her for reflux.

Age: 7 7/12 yearsRachel’s family had made significant ef-

forts to add nutrition supplements to her diet under the supervision of her local RD. She was still consuming a texture modified diet

with frequent feedings. Foods were fortified with extra fat. The nutrition supplement was increased to 16 ounces at school and 8 ounces at home, In addition, several scoops of a carbohydrate/fat modular were used daily, Rachel’s fluid intake improved when her favorite closed cup was duplicated at school. The gastroenterologist had instructed “less juice and more water.” Her medications included Keppra and Prevacid.

Summary of nutrition visit: Rachel’s physical appearance and “reserves” were much improved over the past year so there was less discussion of a G-tube placement. Rachel’s family was “anxious” for the re-search RD to evaluate her to see if her weight continued to show improvement. The local RD will use the clinic and the school setting to continue to monitor Rachel’s intake and weight gain. Rachel will also remain under the medical supervision of the neurologist, orthopedist, and gastroenterologist.

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20. motil KJ, et al. Nutritional and gastrointestinal problems frequently complicate the clinical course of girls and women with rett syndrome. J pediatr gastroenterol Nutr 2007;45:e17-e18

21. tarquinio D, et al. growth charts for rett syndrome: birth to 18 years of age: poster, child Neurology society meeting, November 2008; email:Daniel.tarquinio@bmc.org.

22. chetney r, waro K. a new home health approach to swallowing disorders. home healthc Nurse 2004;22:703-707.

RESOURCES

1. international rett syndrome Foundation (irsF) www.rettsyndrome.org

2 . the rett syndrome handbook, 2nd ed. Kathy hunter.

3. DVD the adult with intellectual and Developmental Disabilities-a resource tool for Nutrition professional by aDa behavioral health Nutrition, Dietetic practice group of the american Dietetic association available summer 2008. www.bhndpg.org/publica-tions/index.asp

4. rett syndrome clinics: http://www.rettsyn-drome.org/ research/ clinical trails & studies

5. amorde-spalding, K. today’s Ketogenic Diet revisited. NutritioN Focus Newsletter. 2006;21(6):1-7. (see back page of this issue to order this article).

Featured in future issue of NutritioN Focus

•Nutrition assessment and management of the child with cancer