C H A P T E R
40
Nutrition in Osteogenesis Imperfecta
Elisabeth Enagonia
Kennedy Krieger Institute, Baltimore, MD, USA
INTRODUCTION: COMMON NUTRITION
RELATED PROBLEMS IN OI
Specific nutrient needs of individuals with osteogen-
esis imperfecta (OI) are not well researched.1 Obesity
may be a problem for individuals with OI (Figure 40.1).
Limited physical activity, small body size and/or
short stature, and intake of excess kcalories can cause
excess weight gain. Overweight and obesity increase
the risk for chronic diseases such as cardiovascular dis-
ease (CVD) and type 2 diabetes. Excess bodyweight can
limit mobility, increase stress on joints and bones, cause
skin breakdown and pressure ulcers, and impair quality
of life.
Gastrointestinal problems may occur in some per-
sons with OI. Scoliosis and other truncal or pelvic
abnormalities may cause gastroesophageal reflux (GER)
or constipation. Persons with OI may have lactose intol-
erance. Although medical management may be needed,
avoiding foods that exacerbate GER may be helpful,
and adequate fluid and a diet high in fiber may help
alleviate constipation.
Poor nutrition can occur in both adults and children
with OI. Causes may include poor dietary choices, low
kcaloric intake in an effort to manage bodyweight, dif-
ficulties with eating solid food, and decreased appetite
secondary to medication, bone pain, surgeries, or other
physical and mental health concerns.
KCALORIE AND
MACRONUTRIENT NEEDS
The nutrition goals for individuals with OI are the
same as for any individual: to achieve optimal health
by taking in adequate kcalories to achieve and main-
tain a healthy weight, eating a diet with an appropriate
Osteogenesis Imperfecta.
DOI: http://dx.doi.org/10.1016/B978-0-12-397165-4.00040-X
balance of proteins, carbohydrates and fats, meeting
the Dietary Reference Intakes (DRIs) for vitamins and
minerals, taking in the recommended amount of fiber
and taking in enough fluid to meet hydration needs. In
addition, infants, children and adolescents with OI need
to meet their nutrient needs for appropriate growth.
Depending on the severity of OI, mobility and activ-
ity level, and body size and height, individuals with
OI may need to reduce their energy intake by decreas-
ing portion sizes and choosing lower fat, lower kcalorie
foods. If energy needs are unusually low, care must be
taken to ensure adequate intake of protein and micro-
nutrients. Suggestions are included in this chapter.
Kcalories
Energy requirements are defined as the amount of
energy intake from food that balances energy expendi-
ture, while also providing the energy needs for tissue
maintenance, growth, and supporting higher demand
states such as pregnancy, lactation or recovery from ill-
ness or injury.2
Estimates for energy needs of healthy persons are
included in the DRIs published by the Institute of
Medicine.3 The estimated energy requirement (EER)
is the average kcaloric intake that is estimated to meet
the needs of a healthy person to maintain health and
participate in physical activity consistent with health.
The EER takes into account age, gender, weight and
height. In addition, there are calculations that factor in
physical activity at a sedentary, moderate and active
level. The EER, stratified by age, gender and activity
level, is available in print3 or online at http://fnic.nal.
usda.gov/dietary-guidance/dietary-reference-intakes/
dri-tables.4
Energy balance is achieved when an individual’s
intake balances energy expenditure. Energy intake that
371 2014 Elsevier Inc. All rights reserved.
© 2012
372 40.  Nutrition in Osteogenesis Imperfecta

(A) Height and weight: Male Ol type I

110
100
90
80
70
60
(Kg)
50
40
30
20
10
0
40 60 80 100 120 140 160 180 200
(cm)

(B) Height and weight: Female Ol type 3

110
100
90
80
70
60
(Kg)

50
40
30
20
10
0
40 60 80 100 120 140 160 180 200
(cm)

FIGURE 40.1  Height vs. weight charts for (A) males with type I OI and (B) females with type III OI. The data show the significant increase
in weight for individuals to age 20 (multicolored) and adults >age 20 years (black). Of interest is the relative correspondence for height and
weight for type I and III until age approximate 20 years, when a significant increase in weight is apparent for both genders and both OI types.

N(Females/Males)

OI Type Pediatric (<20) Adult (>20 years)

I 96(48/48) 128(84/44)
III 34(22/12) 36(20/16)

Pediatric data (age <20): multicolored.

Adult data (age ≥20): black.

is consistently less than energy expenditure leads to
weight loss, while intake in excess of expenditure results
in weight gain. It should be noted that for individuals
with OI who have smaller body size or limited mobility,
the EER is likely to overestimate their kcaloric needs.
The goal for adults with OI is the same as for all
adults: to meet their energy needs to support physical
activity and health, while achieving and maintaining a
healthy bodyweight. Children with OI also must meet
their needs for adequate growth and development.
No research has investigated whether the total
energy expenditure (TEE) of individuals with OI is
similar to that of individuals without OI. For a person
with mild type I OI, it is likely that the TEE is similar to
that of a matched individual without OI, and therefore
the EER is a reasonable place to start when estimating
energy needs. For an individual with more severe OI
that affects height, mobility and/or places limitations
on physical activity, EER estimates may not be accurate.
In general, decreased mobility and curtailed physical

VIII.  ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA

 Kcalorie and Macronutrient Needs
activity lead to decreased energy needs. Individuals
with limited mobility or physical activity will need
to be careful to meet their total nutrient needs while
preventing unwanted weight gain. For persons on a
reduced kcalorie diet to treat overweight or obesity, the
assistance of a registered dietitian (RD) may be help-
ful to ensure adequate intake of protein, vitamins and
minerals.
Weight management strategies for individuals with
OI are the same as those for persons without OI. Some
suggestions include:
● Choose low-fat, high-nutrient foods
● Choose foods without added sugar
● Avoid high-kcaloric drinks; choose non-kcaloric
drinks such as water, unsweetened tea and plain
coffee; use non-kcaloric sweeteners; add non-fat milk
to coffee, tea or hot chocolate
● Choose low-fat or non-fat dairy foods
● Consult with an RD about food choices that manage
kcalories while providing adequate nutrition
● If kcaloric needs are low, a complete vitamin–mineral
supplement may be beneficial to ensure adequate
intake of micronutrients
● Be as physically active as safely possible
● Consult with a physician or physical therapist
regarding safe, appropriate ways to increase
physical activity.
Protein
The primary roles of dietary protein in the body
of a healthy human are growth and maintenance
of body tissues including enzymes, hormones and
antibodies, to assist in maintaining fluid and elec-
trolyte balance and acid–base balance, and to pro-
mote blood clotting. Although it is not primarily an
energy source, protein in a typical mixed diet may
provide about 15% of daily energy use.5 The Institute
of Medicine has set DRIs for protein that meet the
protein needs of healthy people. The DRIs vary based
on age, gender and life-cycle stages where needs
are higher. Protein needs are increased during preg-
nancy and lactation, and with illness, after surgery or
with metabolic stress. Whether protein needs increase
with major fractures has not been established. The
DRI for protein for all life stage groups is available in
print3 or online at http://fnic.nal.usda.gov/dietary-
guidance/dietary-reference-intakes/dri-tables4 or at the
National Academy Press website at http://www.nap.
edu/topics.php/topic=380.6
The role of protein in bone health has been contro-
versial. Increased protein intake results in increased uri-
nary calcium excretion, and one school of thought has
been that calciuria associated with high protein intake
VIII.  ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA
373
is due to osteoclast-activated bone resorption.7 More
recently, isotope studies in humans have shown greater
calcium retention and absorption in individuals who
consume a high-protein diet. Many epidemiological
studies show a significant positive relationship between
bone mass and dietary protein intake; however, no
studies have found a positive relationship between pro-
tein intake and decreased incidence of fractures.7 No
studies examining the role of protein intake on bone
mass specifically for persons with OI were found.
For a healthy person with OI, the DRI for protein is
likely to be adequate. A balanced diet that includes ani-
mal and/or plant proteins is likely to meet the DRI for
protein; in fact, the typical westernized diet provides
several times the DRI for protein.
Fats
Fat is an essential nutrient, used by the body as a
concentrated energy source to maintain and repair cell
membranes, as a component of organs including the
brain and as a building block for several hormones.
Dietary fat is the most energy dense of the macronu-
trients, providing approximately 9 kcalories/gram. In
general, foods of animal origin, such as meat, fish, eggs
and dairy, include a higher proportion of saturated fats,
while most plant oils are comprised of a greater per-
centage of unsaturated fats. As is well known, a higher
intake of saturated fat is associated with an increased
risk of several chronic diseases, included hypertension
and CVD.
The IOM has set acceptable macronutrient distri-
bution ranges (AMDR) for protein, carbohydrate and
fat.3 For healthy adults, the AMDR for total dietary
fat is estimated to be 20–35% of kcalories. The Dietary
Guidelines for Americans 2010 (Chapter 3)8 recommend
that no more than 10% of kcalories come from saturated
fat, with the remaining fat kcalories coming from poly-
unsaturated and monounsaturated fatty acids, found in
fish, nuts and vegetable oils. Other recommendations
are to keep trans fat intake as low as possible, and to
consume less than 300 mg of cholesterol daily.
Adults with OI face the same risks for coronary
heart disease, type 2 diabetes and other chronic dis-
ease as do all adults; therefore, it is prudent to follow
the same guidelines. There is clinical evidence that
individuals with OI severe enough to compromise
mobility may experience excess weight gain.9 In that
context, it seems prudent to follow a diet low in total
fat and especially in saturated fat. The DASH (Dietary
Approaches to Stop Hypertension) diet10 has been
shown to be effective in reducing blood pressure. It pro-
vides effective guidelines in a user-friendly format.
Information and diet plans can be found at http://
dashdiet.org/.11
374 40.  Nutrition in Osteogenesis Imperfecta
Carbohydrate
Carbohydrate (sugars and starches) is primarily
used by the body as an energy source, especially for the
brain, which is carbohydrate dependent. The IOM sets
the RDA for carbohydrate at 130 grams/day; however,
when protein and fat meet the AMDR, the intake of car-
bohydrate will typically be higher in order to meet total
energy needs.3
The AMDR for carbohydrate in healthy adults is
45–65% of kcalories.3 For an otherwise healthy adult
with OI, the AMDR should provide an acceptable
amount of carbohydrate. If co-morbidities of carbohy-
drate metabolism such as diabetes are present, guidelines
specific to those disease states would be recommended.
The Dietary Guidelines for Americans 2010
(Chapter 4)12 recommends consuming half of all grains
in the form of whole grains, which are sources of
dietary fiber, minerals including iron and magnesium,
and B vitamins. Moderate evidence suggests that intake
of whole grains may decrease the risk of CVD, obesity
and type 2 diabetes.
Fiber
Dietary fiber is a non-digestible form of carbohy-
drate. Soluble fiber helps reduce serum cholesterol,
slow glucose absorption, slow gastrointestinal tran-
sit time, which promotes satiety, and hold moisture in
feces, helping to prevent constipation. Insoluble fiber
increases fecal weight and speeds fecal passage through
the colon. Sources of insoluble fiber include grains,
fruits, vegetables, legumes, nuts and seeds. Individuals
with OI may be prone to constipation;13 therefore
sources of both soluble and insoluble fiber should be
included in the diet.
There are no studies that look specifically at whether
persons with OI have significantly different require-
ments for individual macronutrients or whether oth-
erwise healthy individuals with OI would require a
different proportion of macronutrients. It seems pru-
dent, therefore, for healthy individuals with OI to fol-
low the AMDRs set out by the IOM.
MICRONUTRIENTS AND OI
Although the collagen defects that cause OI are
not resolved by dietary intervention, adequate intake
of micronutrients, especially those involved in bone
health, is important to promote and maintain optimal
bone health. The micronutrients most commonly asso-
ciated with bone formation and maintenance are cal-
cium and vitamin D. Other micronutrients that play
a role in healthy bone are magnesium, phosphorus,
VIII.  ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA
and vitamins A and C. Fluoride is important to assist
in maintaining the integrity of teeth and bone. Some
studies suggest that serum concentrations of calcium,
vitamin D and phosphorus are typically normal or
comparable to values found in persons without OI;14
therefore, as a starting point, persons with OI are rec-
ommended to strive to meet the DRIs for micronutri-
ents by eating a balanced, varied diet. If more specific
guidance is needed, consultation with an RD may be
helpful.
Calcium and Bone Health
Calcium does not repair the collagen defects that
cause OI; however, persons with OI should be sure to
take in adequate calcium to maximize their bone mass
and prevent bone loss.15 Ingesting excessive amounts
of calcium through diet plus supplements is not
recommended.
As a starting point, persons with OI are rec-
ommended to meet the DRI for calcium.
Recommendations are based on age and stage of bone
development, with the highest recommended intake
during the years of peak bone development. Especially
for persons with OI, adequate intake (AI) of calcium is
important throughout the life cycle (Table 40.1).
In their 2010 summary of current and emerging treat-
ments for the management of OI, Monti et  al. recom-
mend 800–1000 mg of calcium per day during infancy.16
The American Academy of Pediatrics (AAP), however,
notes that retention of dietary calcium is low in younger
children and gradually increases as the individual
approaches puberty.17 AAP finds no evidence to sug-
gest that exceeding the amount of calcium retained by a
breastfed infant promotes higher retention of calcium or
results in long-term increase in bone mineralization.17
Human milk averages 200–340 mg/liter.18,19 The DRI is
set at 200–270 mg/day.
Dairy foods are an excellent source of dietary cal-
cium. A serving typically meets about 30% of the AI
TABLE 40.1  Adequate Intake for Calcium
Adequate Intake for
Population Group Calcium, mg/day
Children age 0–6 months  210
Children age 7–12 months  270
Children ages 1–3 years  500
Children ages 4–8 years  800
Preteens/adolescents ages 9–18 years 1300
Adults ages 19–50 years 1000
Adults 51 years and older 1200
 Micronutrients and OI
for adults aged 19–50 years. Low-fat dairy foods con-
tain the same amount of calcium as full fat dairy, but
kcalories are lower. Other dietary sources of calcium
include broccoli, bok choy, kale, some nuts and dried
beans, and fortified dairy substitutes such as soy or
rice beverages. Increasingly, common foods such as
orange juice, cereals and breads are fortified with
calcium. There is no evidence suggesting that tak-
ing in more calcium than the AI results in improved
bone health; however, bisphosphonate therapy, often
used for persons with OI, requires adequate calcium
(and vitamin D, discussed below) to promote bone
formation.1
On the other hand, persons with certain medical
conditions, such as a history of kidney stones, may
require less calcium than the AI. There is also a school
of thought that suggests that persons with small stature
may require less calcium and/or vitamin D than the AI
for adults.20 Such individuals are recommended to con-
sult with their physician and/or RD for individualized
calcium recommendations.
Vitamin D and Bone Health (see Chapter 56)
Vitamin D is necessary to promote absorption of cal-
cium and mineralization of the bone. It also mediates
the release of calcium and phosphorus from bone to
maintain circulating levels of these minerals. Vitamin D
deficiency is associated with an increase in bone remod-
eling leading to increased porosity in the bone matrix.
Severe vitamin D deficiency results in rickets in chil-
dren and osteomalacia in adults.21
Vitamin D is available through dietary intake and
through skin synthesis in response to exposure to UV
light. Food sources of vitamin D include fatty fish such
as salmon, egg yolks and foods fortified with vitamin D,
such as milk, margarine and soy beverages. Because
dietary sources are limited, many individuals do not
meet a significant portion of their vitamin D needs
through diet.22
Exposure to UV sunlight may assist with adequate
vitamin D status; however, factors such as little sun
exposure, latitude above 42°N, use of sunscreen and
darker skin tone may inhibit vitamin D formation.
A higher prevalence of vitamin D deficiency, or its
milder form, vitamin D insufficiency, has been noted in
persons who meet the above characteristics.
The IOM has set adequate intake levels of vitamin D
for healthy people based on age (Table 40.2).22
Dr. Jay Shapiro has conducted research specifically
on vitamin D needs in persons with OI, and has created
a set of intakes based on bodyweight for individuals
with OI (Table 40.3).23 The full text of the proposal can
be found at http://www.osteogenesisimperfecta.org/
under the heading “OI News.”
VIII.  ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA
375
In a review of current management and treatment
of OI, Monti et  al.16 recommend an adequate intake of
vitamin D, suggesting between 400 and 800 interna-
tional units/day.
Although the optimal amount of vitamin D for indi-
viduals with OI is not clear at this time, the recommen-
dations all support the need for adequate intake, equal
to or greater than the AI established for the general
population.
There is concern for potential negative health con-
sequences associated with excess intake of vitamin D,
a fat soluble vitamin that is stored for long periods in
the fatty tissues of the body. Excessive vitamin D intake
may lead to hypercalcemia and hypercalcuria. For this
reason the IOM has set an upper limit (UL) of 2000 IU
per day.22 Before taking supplements providing more
that the UL, individuals should consult a physician.
Other Micronutrients
Vitamin K is involved in promoting bone mineral-
ization and maturation. Some studies show a correla-
tion between low serum vitamin K and increased risk
of fractures; however, there are no studies that examine
the role of vitamin K and fractures due to OI.
Vitamin A appears to play a role in bone remodel-
ing. A lack of vitamin A causes bones to weaken and
thicken. Again, there is no research on the role of vita-
min A in relation to OI.
Vitamin C assists in the formation of collagen and in
the healing of wounds and fractures. Although vitamin C
cannot reverse the collagen defects of OI, adequate
vitamin C is recommended to encourage healing.
TABLE 40.2  Adequate Intake for Vitamin D
Adequate Intake
Age (micrograms/day)
Infants, children, and adolescents  5
Adults up to 50 years of age  5
Pregnancy and lactation  5
Adults ages 51–70 years 10
Adults age 70 and older 15
TABLE 40.3 Suggested Vitamin D3 Intake for People with OI23
Bodyweight International Units (IU) per day
50 lb (20 kg) 600–800
90 lb (40 kg) 1100–1600
110 lb (50 kg) 1200–2000
150 lb (70 kg) and above 2000–2800
376 40.  Nutrition in Osteogenesis Imperfecta
A balanced, varied diet rich in fruits and vegetables
is likely to provide adequate amounts of vitamins A, C
and K.
Treatment of OI with therapeutic doses of vitamin C,
sodium fluoride, magnesium and calcitonin has been
found to be ineffective and is no longer prescribed.24
FLUID
Adequate intake of fluid is essential for all humans.
Recommendations for how much fluid to drink vary.
The AI for water is 3.7 liters per day for men and 2.7
liters per day for women.25 Needs are increased during
pregnancy and lactation, with increased physical activ-
ity and with exposure to hot weather. Water, other bev-
erages and foods contribute to fluid intake.
Among its many other functions, water helps soften
stools, which may alleviate constipation. Persons with
OI who experience constipation are recommended to
ensure adequate intake of fluid.
Beverages other than water may contribute an unex-
pected number of kcalories to daily intake without pro-
viding substantial nutrients. Especially for individuals
whose kcalorie needs are lower because of small body
size and/or limited mobility, the focus should be on
low-fat or skim milk, lower-fat milk substitutes such as
lite soy milk, and water. Fruit juice should be limited to
8 oz per day for adults and 4–8 oz per day for children.
Whole fruit should be selected more frequently, as it
provides some fluid as well as fiber and phytonutrients
that are lacking in juice. Care should be taken with cof-
fee beverages, energy drinks, sports drinks, soda and
sweetened tea, as they can provide as many kcalories as
a full meal, without the nutritional benefits.
SPECIAL NEEDS OF INFANTS,
CHILDREN AND ADOLESCENTS
WITH OI
Especially with more severe forms of OI, the growth
and nutrition of infants, children and adolescents with
OI may be strongly impacted. Some of the nutrition-
related concerns include poor growth and failure to
thrive (e.g., weight/height or BMI below the 10th per-
centile or decrease across one or more major growth
centiles), difficulty feeding, food sensitivities, intoler-
ances and allergies, gastroesophageal reflux (GER) and
constipation, delayed eruption of teeth and delayed fine
or gross motor skills that impact feeding.
Additionally, assessing appropriate growth may be
complicated for individuals with more severe forms
of OI. At this time, there are no growth charts spe-
cifically for children with OI. For children with small
VIII.  ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA
length/stature, the National Center for Health Statistics
(NCHS) growth charts and typical rate of recom-
mended weight gain are not appropriate to assess ade-
quate growth, as these charts will overestimate weight/
height and body mass index in a person with unusually
short stature. In our practice we look for weight/height
or BMI that is proportional (between the 10th and 85th
percentile for weight/height or BMI). Another strategy
is to observe whether the child is tracking along his/
her own percentiles, but our observations for children
with more severe OI are that the proportion of weight
to height varies between infancy, toddlerhood and
adolescence.
Infants and Toddlers
Because of low muscle tone and weak or lax oro-
facial joints, some infants with OI have difficultly latch-
ing onto and suckling at breast or from a bottle. Infants
with truncal skeletal anomalies such as scoliosis may
have difficulty with the suck–swallow–breathe pattern
necessary for safe and efficient nursing. Infants with
these difficulties may fatigue easily, leading to inad-
equate intake of breast milk or formula. Discomfort or
pain from fractures and casting may lead to decreased
appetite.
Infants with hypotonia, truncal skeletal anomalies or
short length may be prone to GER. These infants may
have frequent spitting up or vomiting, pain and arching
with feeding, and poor tolerance of an adequate vol-
ume of intake to meet their nutrition and fluid needs.
Some infants with OI appear to have intolerance to
milk-based formulas, and perhaps to soy formulas. It is
unclear whether this is related to GER, poor tolerance to
volume or other factors. These infants may require spe-
cialty formulas, including medical formulas made from
hydrolyzed proteins.
Strategies that may help infants with difficulty feed-
ing are:
● Specialty nipples that decrease the effort of sucking
● Positioning that promotes safe and efficient feeding
and swallowing, and minimizes GER
● Frequent small feedings to maximize intake while
avoiding or decreasing emesis
● Consultation with a lactation consultant to optimize
breast and bottle feeding
● Consultation with a speech therapist or occupational
therapist familiar with oral-motor and feeding
therapy
● If the child is unable to meet his/her nutrition needs
orally, placement of a feeding tube may be indicated.
As children with OI progress through the first year
of life, some may have difficulty when complementary
solid foods are introduced. The same concerns that
 Pregnancy and Lactation
impact infant feeding may come into play with spoon
feeding. Jaw weakness, tongue weakness, delays in oral
motor coordination, as well as dentinogenesis imper-
fecta and/or late eruption of teeth may slow the child’s
acceptance of and ability to process texture. Some chil-
dren may prefer to drink rather than eat solids because
they find drinking less effortful. A behavioral compo-
nent may come into play as caregivers and child strug-
gle with feeding difficulties.
Children with oral-motor difficulties may benefit
from:
● A slower progression to higher textures while
providing a higher volume of purées and lower
textures to meet nutritional needs
● Support with higher kcaloric density formula when
kcaloric intake of solids lags
● Oral-motor therapy with a speech-language
pathologist or occupational therapist to improve
feeding skills
● Behavioral recommendations to help with
introducing a greater variety of foods and improving
acceptance of feeding
Children with GER may experience pain or discom-
fort. Even after the GER is treated, the child may have
food refusal because of a history of pain with feeding.
This may manifest as extreme pickiness about variety
and/or inadequate volume of food intake. Treatment
of the underlying medical issue is essential. Behavioral
recommendations from a feeding therapist may assist
caregivers in increasing the child’s acceptance of variety
and volume.
Constipation is an issue for some infants and chil-
dren with OI, especially individuals with pelvic asym-
metry.13 Constipation can create a feeling of fullness
and discomfort that leads to poor intake and food
refusal. Increasing the intake of fluid and fiber, as well
as increasing physical activity, may help alleviate con-
stipation. Medical management may be needed for
severe constipation.
As children with OI reach their toddler and older
childhood years, their nutrition needs parallel those of
all children. They need adequate kcalories for optimal
growth and brain development, and to support physi-
cal activity. They need a varied diet that provides ade-
quate protein, vitamins and minerals. Children with OI
who have shorter stature likely need fewer kcalories to
achieve adequate growth without becoming overweight
or obese.
If overweight or obesity is a concern, care should
be taken to control portion sizes and minimize high-
kcalorie, low-nutrient foods, both in and between
meals. Kcaloric drinks such as soda and sports drinks
should be given infrequently. Fruit juice should be lim-
ited to 4–8 oz/day, as it is higher in kcalories and lower
VIII.  ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA
377
in fiber than whole fruit. The American Academy of
Pediatrics suggests that lower-fat milk may be provided
once the child is 2 years or older.26 Low-fat milk con-
tains the same nutrients as whole milk, but the fat con-
tent is lower.
Helpful guidance about appropriate portion sizes
and meal composition for children is available online
at www.myplate.gov.27 The site offers meal and snack
plans that meet the nutrition needs for children of dif-
ferent ages.
If the child’s energy needs are exceptionally low, care
must be taken to meet the child’s protein and micronu-
trient needs. Lean protein foods such as lean meat, fish
and three servings/day of low-fat dairy foods should
be emphasized. A complete pediatric multivitamin/
mineral supplement may be beneficial.
Above all, families and clinicians are encouraged to
help children with OI develop optimal nutrition habits
to prepare them to make prudent dietary choices when
they reach adolescence and adulthood. Families can
help by modeling healthy eating, providing healthy
food choices, limiting the presence of unhealthier foods
in the home and involving children in food preparation
and serving.
Pre-Puberty and Adolescence
The DRIs for many nutrients, including protein and
calcium, increase during pre-puberty and adolescence
to support physical and sexual maturation, includ-
ing optimal linear growth, peak bone mass develop-
ment, the increase in lean body mass for males, and the
increase in adequate adipose tissue for the maturing
female to support menarche, childbirth and lactation.
However, excess intake of total kcalories and nutri-
ents such as total fat and saturated fat increases the risk
for obesity and chronic diseases such as cardiovascular
disease and type 2 diabetes. Overweight and obesity
also impair mobility.
At the same time, adolescents are becoming more
independent in their choices of foods and beverages,
and they may eat more meals away from home. As with
younger children, families can continue to model and
encourage healthy eating patterns. If nutrition becomes
a concern, a consultation with an RD may be helpful.
PREGNANCY AND LACTATION
There are no studies examining nutrition for preg-
nant or lactating women with OI. The goals are the
same as for any pregnant or lactating woman: to sup-
port the health and nutrient needs of mother and baby.
Women who plan to become pregnant are advised
to achieve a healthy pre-pregnancy bodyweight.
378 40.  Nutrition in Osteogenesis Imperfecta
Underweight mothers have an increased risk for a low-
birthweight baby, while overweight or obese mothers
have increased risk for gestational diabetes and hyper-
tension. Infants of overweight women are often larger
than normal, even if born prematurely.
In the first trimester, energy needs are not increased,
but do increase in the second and third trimesters. For
an overweight or obese woman, the goals of avoiding
excess weight gain while eating adequate kcalories may
require a specialized nutrition plan.
A pregnant woman needs to take in adequate car-
bohydrate to support fetal brain growth and spare the
protein needed to promote fetal growth. Protein needs
are increased as well; however, most women do not
need to increase their intake of protein from their pre-
pregnancy intake, as a typical western diet exceeds the
DRI for protein several-fold.
The essential fatty acids (omega 3 and omega 6 fatty
acids) are necessary for fetal brain development. Foods
rich in omega 6 fatty acids include leafy greens, seeds,
nuts, grains and vegetable oils. Foods rich in omega 3
fatty acids include canola and flax oil, walnuts, wheat
germ, soybeans and soy oil, and fatty cold water fishes
such as salmon, sardines and tuna. Women who are
pregnant or breastfeeding are recommended to avoid
eating fish that may be contaminated with mercury.
The highest levels are found in king mackerel, sword-
fish, tilefish and shark. Lists of fish that are likely to
contain low, moderate and high levels of mercury are
available.28
Adequate intake of folate both before and during
pregnancy has been shown to decrease the risk of neu-
ral tube defects.29 The need for iron is greatly increased
during pregnancy.30 Meeting the increased need is dif-
ficult through food alone, so supplemental iron is gen-
erally needed. Most pregnant women benefit from
prenatal vitamins, but vitamins do not replace the need
to eat a nutritious diet.
Adequate intake of calcium is crucial, as the baby’s
need for calcium during pregnancy and breastfeeding
may deplete the mother’s bone density if her calcium
intake is insufficient.31 A woman should discuss with
her doctor whether calcium supplementation is needed.
PHYSICAL ACTIVITY
Exercise and physical activity are essential compo-
nents of energy balance and overall health. Persons
with OI are recommended to participate in physi-
cal activity as much as is safely possible. The benefits
of physical activity are numerous, including cardio-
vascular fitness, increased muscle tone and strength,
increased bone density, assistance achieving and main-
taining a healthy weight, and improving flexibility and
VIII.  ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA
mobility. Van Brussel et al. found that a physical train-
ing program for children with type I or IV OI signifi-
cantly improved the intervention group’s peak oxygen
consumption; maximal workout capacity and muscle
force were improved after the 12-week program.32
Individuals with OI may have significant barriers to
adequate physical activity. Muscle strength and exer-
cise tolerance may be reduced.33 Bone pain may make
physical activity difficult. It is difficult for persons with
limited mobility and/or skeletal problems to participate
in aerobic or weight bearing activities. Accessibility
to gyms and pools may be difficult for persons using
assistive mobility devices. Overweight and obesity
can further limit mobility, and provide a psychological
deterrent to beginning an exercise program.
The OI Foundation has a fact sheet that addresses
exercise and activity34 across the lifespan for individu-
als with OI. The key recommendations include physical
therapy starting in infancy to promote optimal align-
ment and positioning, as well as to improve delayed
motor skills and build strength and endurance.
Children and adults with OI benefit from swimming
and water play. Persons who are unable to walk on land
may be able to waterwalk, which provides resistance
and aerobic conditioning.
For persons with limited mobility, getting out of the
wheelchair and changing positions every 2 hours is
recommended to decrease stiffness and prevent skin
breakdown. High impact activities such as jumping or
contact sports should be avoided.34 Persons with OI
may benefit from assistance from a physical therapist,
rehabilitation specialist or exercise specialist who is
familiar with adaptive exercise.
CONCLUSION
Although nutrition needs for persons with OI
have not been well studied, persons with OI will ben-
efit from eating an adequate, balanced and varied diet
based on nutrition recommendations for individuals
across the lifespan. As for all individuals, the nutrition
goals for persons with OI are to achieve optimal health
and participate fully in a physically and emotionally
satisfying life.
References
[1] Chagas CA, et  al. Do patients with osteogenesis imperfecta
need individualized nutrition support? Nutrition 2012;28(2):
138–42.
[2] Shils ME, Shike M, Ross AC, Caballero B, Cousins RJ, editors.
Modern nutrition in health and disease (10th ed.). Baltimore
MD: Lippincott, Williams and Wilkins; 2006.
[3] Institute of Medicine of the National Academies. Dietary ref-
erence intakes for energy, carbohydrate, fiber, fat, fatty acids,
 REFERENCES
cholesterol, protein, and amino acids. Washington, DC: The
National Academies Press; 2005.
[4] Dietary Reference Intakes, <http://fnic.nal.usda.gov/dietary-
guidance/dietary-reference-intakes/dri-tables> [accessed 03.07.13].
[5] Sizer F, Whitney E. Nutrition: Concepts and Controversies. 10th ed.
Belmont, CA: Thomson Wadsworth
[6] National Academy Press website, <http://www.nap.edu/top-
ics.php/topic=380> [accessed 03.07.12].
[7] Kerstetter JE, Kenny AM, Insogna KL. Dietary protein and
skeletal health: a review of recent human research. Curr Opin
Lipidol 2011;22:16–20.
[8] Dietary Guidelines for Americans, <http://www.cnpp.usda.
gov/Publications/DietaryGuidelines/2010/PolicyDoc/
Chapter3.pdf> [accessed 03.07.12].
[9] Shapiro JR, Germaine-Lee EL. Effecting the transition from ado-
lescent to adult medical care. J Musculoskelet Neuronal Interact
2012;12(1):24–7.
[10] DASH diet, <http://www.nhlbi.nih.gov/health/public/heart/
hbp/dash/new_dash.pdf> [accessed 03.07.12].
[11] <http://dashdiet.org/> [accessed 03.07.12].
[12] Dietary Guidelines for Americans 2010, <http://www.cnpp.
usda.gov/Publications/DietaryGuidelines/2010/PolicyDoc/
Chapter4.pdf> [accessed 03.07.12].
[13] Osteogenesis Imperfecta Foundation. OI Issues: Constipation,
<www.oif.org> [accessed 03.07.12].
[14] Steiner RD, Pepin MG, Byers PH. Osteogenesis Imperfecta.
NCBI Bookshelf.
[15] OI Foundation: calcium, <www.oif.org>.
[16] Monti E, Mottes M, Fraschini P, et  al. Current and emerging
treatments for the management of osteogenesis imperfecta. Ther
Clin Risk Manag 2010;6:367–81.
[17] Greer FR, Krebs NF, and the committee on nutrition. Optimizing
bone health and calcium intakes of infants, children, and
adolescents. American Academy of Pediatrics Clinical Report,
<www.pediatrics.org/cgi/doi/10.1542/peds.2005-2822>
[accessed 03.07.12].
[18] Hamosh M. Creamatocrit and pH measurements of human
milk. J Pediatr Gastroenterol Nutr 1991;13(4):430–1.
[19] Riordan J, Auerbach K. Breastfeeding and Human Lactation,
edition 2. Jones & Bartlett Learning, LLC, 1999.
[20] Osteogenesis Imperfecta Foundation. OI Issues: Nutrition,
<www.oif.org> [accessed 03.07.12].
VIII.  ORGAN INVOLVEMENT IN OSTEOGENESIS IMPERFECTA
379
[21] Cranney A, Horsley T, O’Donnell S, et  al. Effectiveness and
safety of vitamin D in relation to bone health. Rockville (MD):
Agency for Healthcare Research and Quality (US); 2007. Aug.
Evidence Reports/Technology Assessments, No. 158.
[22] Institute of Medicine of the National Academies Dietary Reference
Intakes for calcium, phosphorus, magnesium, vitamin D and fluo-
ride Institute of medicine of the national academies. Washington,
DC: The National Academies Press; 2005.
[23] Shapiro, J. <http://www.osteogenesisimperfecta.org/> under
the heading “OI News.”
[24] Osteogenesis Imperfecta Foundation. Guide to Osteogenesis
Imperfecta for Pediatricians and Family Practice Physicians,
<www.oif.org> [accessed 03.07.12].
[25] Institute of Medicine of the National Academies Dietary refer-
ence intakes for water, potassium, sodium, chloride, and sulfate.
Washington, DC: The National Academies Press; 2005.
[26] Scott FW. AAP recommendations on cow milk, soy, and early
infant feeding. Pediatrics 1995;96:515–7.
[27] Children (6–11 years) and Preschoolers (2–5 years), <www.
myplate.gov> [accessed 03.07.12].
[28] < h t t p : / / w w w. f d a . g o v / F o o d / F o o d S a f e t y / P r o d u c t -
SpecificInformation/Seafood/FoodbornePathogensContaminants/
Methylmercury/ucm115644.htm> [accessed 03.07.12].
[29] Institute of Medicine of the National Academies Dietary refer-
ence Intakes for thiamin, riboflavin, niacin, vitamin B6, folate,
vitamin B12, pantothenic acid, biotin and choline. Washington,
DC: The National Academies Press; 2005.
[30] Institute of Medicine of the National Academies. Dietary
Reference intakes for vitamin a, vitamin K, arsenic, boron, chro-
mium, copper, iodine, iron, manganese, molybdenum, nickel,
silicon, vanadium, and zinc. Washington, DC: The National
Academies Press; 2001.
[31] Osteogenesis Imperfecta Foundation. Pregnancy: Women Who
Have OI, <www.oif.org> [accessed 03.07.12].
[32] Van Brussel M, Takken T, Uiterwaal CS, et al. Physical training
in children with osteogenesis imperfect. J Pediatr 2008;152:111–6.
[33] Plotkin H. Growth in osteogenesis imperfecta. Growth Genet
Horm 2007;23(2):17–23.
[34] Osteogenesis Imperfecta Foundation. Exercise and Activity: Key
Elements in the Management of OI, <www.oif.org> [accessed
03.07.12].