the recognition and treatment of growth disorders – a 50-year retrospective

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REVIEW ARTICLE The recognition and treatment of growth disorders Á A 50-year retrospective BABETTE ZEMEL Division of Gastroenterology, Hepatology and Nutrition, The Children’s Hospital of Philadelphia, Department of Pediatrics, The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA (Received 23 March 2009; accepted 26 March 2009) Abstract The past 50 years have seen great progress in the understanding and treatment of classic growth disorders. Advances such as the recognition of hormone receptor defects, the development of recombinant growth hormone, and the expanding awareness of epigenetic phenomena affecting growth are among these great achievements. Yet growth failure remains a pervasive problem among children with complex health conditions, such as survivors of childhood cancers, premature infants, organ transplant recipients, and children with cystic fibrosis. The significant increases in life expectancy among these groups underscores the potential consequences of poor growth, whether due to the underlying conditions or medical treatments, as they may have long-lasting effects into adulthood. The ongoing contributions of human biologists to the study of human growth remain essential in the recognition and treatment of growth disorders, by defining normal patterns of growth and body composition, the interplay of growth and maturation, the role of environmental, behavioral and genetic factors, and the long-term consequences of growth patterns. Examples will be given based on two common genetic disorders, cystic fibrosis and sickle-cell anemia, to highlight the relationships between growth failure, survival, and malnutrition. Also, a study of bone mineral accretion in children with cystic fibrosis will illustrate the importance of understanding patterns of growth in healthy children, and their application in the diagnosis and management of children with chronic disease. These examples accentuate the need for continued participation of human biologists in the study of growth and development and the care of children. Keywords: Growth, children, sickle-cell disease, cystic fibrosis Introduction In the past 50 years there has been phenomenal progress in the basic and clinical science of growth and its disorders. Witness the expansion and refinement in understanding the Correspondence: Babette Zemel, Division of Gastroenterology, Hepatology and Nutrition, The Children’s Hospital of Philadelphia, Department of Pediatrics, The University of Pennsylvania School of Medicine, 3535 Market Street, Room 1560, Philadelphia, PA 19104, USA. E-mail: [email protected] ISSN 0301-4460 print/ISSN 1464-5033 online # 2009 Informa UK Ltd. DOI: 10.1080/03014460902980303 Annals of Human Biology, SeptemberÁOctober 2009; 36(5): 496Á510 Ann Hum Biol Downloaded from informahealthcare.com by University of Nebraska on 10/28/14 For personal use only.

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Page 1: The recognition and treatment of growth disorders – A 50-year retrospective

REVIEW ARTICLE

The recognition and treatment of growth disorders � A50-year retrospective

BABETTE ZEMEL

Division of Gastroenterology, Hepatology and Nutrition, The Children’s Hospital of

Philadelphia, Department of Pediatrics, The University of Pennsylvania School of

Medicine, Philadelphia, PA 19104, USA

(Received 23 March 2009; accepted 26 March 2009)

AbstractThe past 50 years have seen great progress in the understanding and treatment of classic growthdisorders. Advances such as the recognition of hormone receptor defects, the development ofrecombinant growth hormone, and the expanding awareness of epigenetic phenomena affectinggrowth are among these great achievements. Yet growth failure remains a pervasive problem amongchildren with complex health conditions, such as survivors of childhood cancers, premature infants,organ transplant recipients, and children with cystic fibrosis. The significant increases in lifeexpectancy among these groups underscores the potential consequences of poor growth, whetherdue to the underlying conditions or medical treatments, as they may have long-lasting effects intoadulthood. The ongoing contributions of human biologists to the study of human growth remainessential in the recognition and treatment of growth disorders, by defining normal patterns of growthand body composition, the interplay of growth and maturation, the role of environmental, behavioraland genetic factors, and the long-term consequences of growth patterns. Examples will be given basedon two common genetic disorders, cystic fibrosis and sickle-cell anemia, to highlight the relationshipsbetween growth failure, survival, and malnutrition. Also, a study of bone mineral accretion in childrenwith cystic fibrosis will illustrate the importance of understanding patterns of growth in healthychildren, and their application in the diagnosis and management of children with chronic disease.These examples accentuate the need for continued participation of human biologists in the study ofgrowth and development and the care of children.

Keywords: Growth, children, sickle-cell disease, cystic fibrosis

Introduction

In the past 50 years there has been phenomenal progress in the basic and clinical science of

growth and its disorders. Witness the expansion and refinement in understanding the

Correspondence: Babette Zemel, Division of Gastroenterology, Hepatology and Nutrition, The Children’s Hospital of

Philadelphia, Department of Pediatrics, The University of Pennsylvania School of Medicine, 3535 Market Street, Room 1560,

Philadelphia, PA 19104, USA. E-mail: [email protected]

ISSN 0301-4460 print/ISSN 1464-5033 online # 2009 Informa UK Ltd.

DOI: 10.1080/03014460902980303

Annals of Human Biology, September�October 2009; 36(5): 496�510

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Page 2: The recognition and treatment of growth disorders – A 50-year retrospective

mechanisms of growth, particularly with respect to the growth hormone axis and insulin-

like growth factors, the role of receptors, carrier proteins and transcription factors (Le Roith

et al. 2001; Mullis 2005; Daughaday 2006), and the treatment of growth disturbances

through innovations such as recombinant growth hormone (Zucchini 2008) and insulin-like

growth factor-I (IGF-I) (Rosenbloom 2008).

In parallel, the human biology of growth has flourished. Most notably, there has been

extensive documentation of worldwide variation in human growth (Eveleth and Tanner

1991) and the factors that influence growth including nutrition (e.g. see Norgan 1995;

Panter-Brick 1997; Shoff 2006; Stein et al. 2003; Zemel et al. 2002), ethnicity/population

ancestry (racial differences) (Rona and Chinn 1986; Denham et al. 2001; Komlos and

Breitfelder 2008), social and economic forces (Norgan 1995; Laska-Mierzejewska

and Olszewska 2007), the physical environment (Cameron et al. 1992; Panter-Brick

1997), and pre-natal (Adair 2007), perinatal (Luke et al. 2004) and intergenerational effects

(Alberman et al. 1991; Stein et al. 2003). In addition, the assessment of growth has

advanced significantly, particularly with respect to large, well-designed surveys to establish

reference data for growth and nutritional assessment (Cole et al. 1995; Leung et al. 1998;

Ogden et al. 2002; de Onis et al. 2007), new statistical techniques for creating growth

curves (Cole and Green 1992) and interpreting growth (such as mid-parental height

adjustment (Himes et al. 1985) and malnutrition screening (Cole et al. 2007)), and the

assessment of skeletal (Tanner et al. 2001) and sexual maturation (Tanner 1962; Morris and

Udry 1980; Schall et al. 2002; Sun et al. 2002).

Other advances include the new techniques for the assessment of growth and body

composition, such as the knemometer (Hermanussen 1988; Michaelsen 1994) and knee

height measuring device (Cronk et al. 1989), total body electrical conductivity (Van Loan

and Koehler 1990; Bell et al. 1994; de Bruin et al. 1995) and bioelectrical impedance

analysis (Fuller et al. 2002; Wells et al. 2007), air displacement plethysmography (Wells

et al. 2003; Fields et al. 2004a,b; Ittenbach et al. 2006), dual energy X-ray

absorptiometry (Koo et al. 2004; Margulies et al. 2005; Buison et al. 2006; Wosje

et al. 2006), magnetic resonance imaging (Pietrobelli et al. 2007), infrared interactance

(Brooke-Wavell et al. 1995), and ultrasound techniques for assessment of prenatal growth

(Salomon et al. 2006; Verburg et al. 2008), bone density (Lappe et al. 2000; Magkos et

al. 2005; Micklesfield et al. 2006; Jones and Boon 2008) and body composition

(Guagnano et al. 1997).

While growth assessment has undergone major improvements, the improvements in

medical care have increased survival of children with health conditions that challenge

overall well-being and survival, such as premature birth, childhood cancer, genetic disorders

and congenital anomalies, and organ transplantation. For many of these groups of children,

survival to adulthood is now common albeit with long-term consequences of their disease or

its treatment. Childhood growth and body composition are general indicators of well-being

and disease effects in childhood; poor growth and compromised body composition

represent threats to well-being in adulthood.

To illustrate this partnership between human biology and clinical care of children with

growth disorders, two case studies are presented; one of children with sickle-cell disease

(SCD) and the other of children with cystic fibrosis (CF). While both these diseases are

common potentially lethal genetic disorders, one is common among children of African

ancestry while the other is common among children of European ancestry.

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Case study: Sickle-cell disease

SCD occurs in one of every 500 African-American births (1 in 12 African Americans carries

the SCD trait) and one in every 1000�1400 Hispanic�American births (Ashley-Koch et al.

2000). The symptoms of SCD include severe chronic anemia, acute chest syndrome,

stroke, splenic sequestration, renal dysfunction, pain crises, bacterial infections and

pulmonary hypertension, but the severity of these symptoms is highly variable (Yanni

et al. 2009). The disease is caused by a point mutation whereby glutamic acid is replaced by

valine in the b-globin chain located on the short arm of chromosome 11 (Mehanna 2001).

Altered hemoglobin polymerizes under altered conditions, and the red blood cells become

sickled in shape and fragile. Sickled cells cause vasoocclusion, microvascular damage and

tissue necrosis (Serjeant and Serjeant 2001). People who are heterozygotes for SCD are

protected from the harmful effects of malaria infection, whereas those who are homozygotic

for normal hemoglobin or sickled hemoglobin have an increased risk of mortality from

malaria when living in malaria endemic zones (Serjeant 1989; Nagel and Fleming 1992).

Over the past 50 years, the treatment of SCD has been transformed. In 1956, Ingram and

Hunt sequenced hemoglobin and discovered the single amino acid change in the protein

sequence that caused SCD (Hunt and Ingram 1958, 1960, 1961). Five years later, the first

major report of growth failure in children with SCD was published by Whitten (1961), yet

the cause of the growth failure was not discovered. Up until 1970, death in childhood was

not uncommon, often of overwhelming infection, and approximately 10% of children

suffered fatal or debilitating strokes (Sarnaik et al. 1979; Sarnaik and Lusher 1982). In 1986

profound changes in treatment of children with SCD were instituted as a result of a clinical

trial of oral penicillin therapy (Gaston et al. 1986). Within 8 months, this trial demonstrated

an 84% reduction in the incidence of infection, and the trial was terminated early because of

its success. In 1995, a clinical trial of hydroxyurea therapy in adults was stopped early due to

significant reduction in hospitalizations for painful crises (Charache et al. 1995). Today,

newborn screening programs for SCD are operating in most states, and all children with

SCD are prescribed daily penicillin to prevent fatal infections. In addition, the transcranial

doppler ultrasound technique has proven to be a successful screening measure to identify

those who might be at-risk of stroke so that they can be given regular blood transfusions for

stroke prevention (Adams 2000). Hydroxyurea therapy is another treatment innovation that

has increased life expectancy and reduced emergency department visits and hospitalizations

in adults and children, 5�15 years of age (Brawley et al. 2008; Mehanna 2001; Wang et al.

2002). The combined effect of these changes in the treatment of SCD is evident in the

significantly reduced mortality of children with SCD over the past two decades, as

illustrated in Figure 1 (Yanni et al. 2009).

Although growth failure was recognized over 40 years ago, and documented by numerous

reports in the following decades (Whitten 1961; Kramer et al. 1980; Platt et al. 1984),

growth failure remains a significant problem and its causes and consequences remain

elusive. We conducted a longitudinal growth study of children with SS-type SCD (Zemel

et al. 2007) receiving care at the Comprehensive Sickle Cell Center at The Children’s

Hospital of Philadelphia. Figure 2a compares the growth of children (males and females

combined) from this recent study with the children described by Whitten in the 1960s

(Whitten 1961). Although height status was significantly greater in the children evaluated in

the 1990s, there was still considerable overlap in height status. An important feature in

growth data from both time periods was that height status declined with age. This feature of

growth status of children with SCD was further demonstrated using the longitudinal results

illustrated in Figure 2b (Zemel et al. 2007). Nearly all children (�80%), including those

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Page 4: The recognition and treatment of growth disorders – A 50-year retrospective

whose initial growth status was excellent, declined in their height z-score over time. Girls

demonstrated some recovery of growth status with the onset and progression through

puberty, but for boys, height status declined through age 19�20. Growth failure defined as a

height, weight or body mass index (BMI) value below the 5th percentile at any time during

the 4-year observation period occurred in 28% of girls and 49% of boys (Zemel et al. 2007).

Hemoglobin concentrations were significant predictors of height status for girls, but acute

SCD-related illnesses were not related to growth failure in girls or boys. These findings

suggest that growth failure is more strongly associated with the chronic anemia associated

with SCD, rather than acute effects of the disease.

Sexual maturation was delayed among children with SCD. Figure 3 illustrates the older

ages at entry into each Tanner stage of pubertal development for boy and girls with SCD

compared to US national survey results for healthy African�American children. Compar-

ison to data published in the 1980s on the timing of puberty in children with SCD (Platt

et al. 1984) suggested that there was no improvement in the timing of puberty over that

time period (Zemel et al. 2007).

The degree to which growth failure and delayed maturation is inherent in SCD is still a

matter of much debate. The presence of nutrient deficiencies and poor dietary intake,

suggests that nutritional factors likely contribute to the growth failure of children with SCD.

As part of the longitudinal growth survey of children with SCD, dietary intake and

nutritional biochemistry data were collected. The biochemical indices indicated a high

prevalence of nutritional insufficiency for folate (Kennedy et al. 2001), iron (Stettler et al.

2001), zinc (Leonard et al. 1998; Zemel et al. 2002), and vitamins A (Schall et al. 2004), B6

(Nelson et al. 2002), and D (Buison et al. 2004; Rovner et al. 2008). The dietary data were

in good agreement with this, showing suboptimal intake of energy and vitamins D and E,

folate, calcium, magnesium, zinc, and fiber (Kawchak et al. 2007). A zinc supplementation

study demonstrated improved linear growth in children receiving the zinc supplement

compared to a placebo (Zemel et al. 2002). The nutritional factors contributing to growth

failure are multifactorial and likely include increased energy requirements. Using stable

isotopes (doubly labeled water method) to measure total energy expenditure, and indirect

calorimetry to measure resting energy expenditure, we observed significantly increased

resting energy requirements and reduced total energy expenditure in children with SCD

1983-1986 1991-1994 1999-2002

4 to 9 yrs

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1983-1986 1991-1994 1999-2002

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SCD related deaths per 100,000 black children 1983 to 2002

Age Group

Figure 1. Decline in age-specific mortality rates in children with sickle-cell disease (SCD) from 1983to 2002. Adapted from Yanni et al. (2009).

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Page 5: The recognition and treatment of growth disorders – A 50-year retrospective

(Barden et al. 2000). Reduced lean and fat mass stores accompanied these patterns of

energy expenditure (Barden et al. 2002), suggesting that improved nutritional intake might

alleviate some of the growth failure and delayed maturation of children with SCD. Increased

protein turnover may also impact nutrient requirements and body composition (Borel et al.

1998a,b).

To some degree, the growth failure of children with SCD may be due to their chronic

hemolytic anemia and its direct and indirect effects on growth. Longitudinal analyses

showed that Hgb was significantly associated with growth status over time in children with

SCD (Zemel et al. 2007). Moreover, children who began hydroxyurea therapy had an

increase in fetal hemoglobin production and a decline in their resting energy requirements

over a 3-month period as shown in Figure 4 (Fung et al. 2001). These findings bring

promise that the growth failure and delayed maturation of children with SCD are not

disease characteristics, but are secondary effects of the severe anemia that may improve with

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Figure 2. Growth status of children with sickle-cell disease. (a) illustrates the growth status of childrenreported by Whitten et al. (1961) compared to children measured in the 1990s. The growth status ofchildren measured in the 1960s was significantly worse than the more recent cohort, although for bothgroups, growth status was worse in older children. (b) illustrates the longitudinal growth of childrenwith SCD from 1993 to 1998, showing the decline with age. Even among children who are tall for ageinitially, their growth declines as shown by the circled points of an individuals growth measurements.Girls have some recovery with the onset and progression through puberty, but boys do not. Adaptedfrom Zemel et al. (2007).

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Page 6: The recognition and treatment of growth disorders – A 50-year retrospective

advances in clinical care. The role of nutrition in promoting improved overall health

remains to be determined.

In sum, despite decades of advances in the understanding of SCD and its treatment,

growth failure and malnutrition are common. Sickle cell ‘crises’, or acute, life-threatening

episodes of sickle cell related symptoms have virtually no relationship to growth failure, yet

a measure like hemoglobin level, representing the usual state of chronic anemia, was

associated with growth status of children with SCD. In the context of the multiple

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Females

Breast Stage2 3 4 5

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Genital Stage

SCD 1990's* SCD 1980's NHANESIII**

Figure 3. Delayed sexual maturation in children with sickle-cell disease. Children evaluated in 1993�1998 were compared to earlier published data on children with SCD (Platt et al. 1984), and to USNational Reference data (Sun et al. 2002). The comparison illustrates the delay in breast developmentin girls and genital development in boys. * refers to the reference Platt et al. 1984 and ** refers to Sunet al. 2002.

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Figure 4. Resting energy expenditure (REE) of children with sickle-cell disease on hydroxyureatherapy. Resting energy expenditure was measured by indirect calorimetry in children prior to therapyand at 3 months after initiating therapy. Fetal hemoglobin increased, and resting energy decreased innearly all children. Hydroxyurea therapy may improve energy balance in children with sickle-celldisease, and ultimately results in improved growth status. Figure reproduced with permission fromFung et al. (2001).

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nutritional deficits, it is likely that nutritional factors contribute significantly to the growth

failure of children with SCD. However, the SCD patient, advocate and clinical care

communities have not yet galvanized to address these problems.

Case study: Cystic fibrosis

CF is an autosomal recessive disorder affecting mucus and sweat glands. It is caused by a

defect in the cystic fibrosis trans-membrane conductance regulator (CFTR) gene which

functions as a chloride channel and controls the regulation of other transport pathways

(Davies et al. 2007). CF is most common in people of European ancestry; the incidence is

one in every 2500 births. It is less common in South Asian and African�American children

for whom the incidence is one in 10 000 (Mei-Zahav et al. 2005) and 15 000 births

(Friedman et al. 1998), respectively, and quite rare among East Asians. Given these

incidence rates, about one in every 31 Americans are carriers and approximately 30 000

people in the United States have CF and 70 000 people worldwide (Cystic Fibrosis

Foundation 2008a). Clinical symptoms include progressive lung disease, and adverse

effects in the pancreas, liver, intestines, sinuses, and sex organs. Approximately 90% of

people with CF are pancreatic insufficient and have significant fat malabsorption, so

maintaining good growth and adequate nutritional status is a challenge (Littlewood et al.

2006).

Like SCD, there have been dramatic changes in the understanding and treatment of CF

in the past 50 years. In 1962, the estimated median survival of children with CF increased

to about 10 years of age (Cystic Fibrosis Foundation 2008b). In 1989, the gene defect that

caused the CF gene and its protein product were identified (Kerem et al. 1989). Since then,

about 1300 variants of the CFTR gene have been identified (Kammesheidt et al. 2006). By

1993, the first gene therapy trial began for people with CF (Wilson 1993). Gene therapy is

still very much at an experimental stage, but other changes in treatment and prevention of

Figure 5. Median predicted survival age for people with cystic fibrosis has been increasing over thepast four decades. Reproduced with permission from the Cystic Fibrosis Foundation Registry Report(Cystic Fibrosis Foundation 2006).

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lung infections, earlier diagnosis and aggressive nutritional care have produced dramatic

improvements in life expectancy (see Figure 5), with especially rapid improvements in the

last decade. In 2005, the predicted median age of survival increased to nearly 37 years

(Cystic Fibrosis Foundation 2006). Corresponding changes are evident in the slower

progression of lung disease (see Figure 6a), and improved nutritional status relative to age

(see Figure 6b). Typically, low weight status recovers in early childhood once the CF

diagnosis is made and aggressive nutritional and medical therapy is instituted (Shoff et al.

2006). Thus from birth to about age 5 years, there is an increase in relative weight status.

Subsequent declines in weight status are due, in part to delayed puberty, and also due to

declining health status. Based on the relationship between nutritional status (BMI) and lung

function, one of the major goals of CF care is to maintain BMI at the 50th percentile

throughout life to optimize lung function and survival (Stallings et al. 2008).

Now that patients with CF are surviving to adulthood, long term complications of CF are

increasingly common (Cystic Fibrosis Foundation 2006) as shown in Figure 7. Among the

frequently reported complications of CF in adulthood is bone disease, primarily

osteoporosis or bone fragility. Osteoporosis is affected by many of the complications of

CF, such as physical inactivity, inflammation, malabsorption, and gonadal insufficiency. It

is widely believed that osteoporosis is a disease that begins in childhood, and that

Figure 6. Improvements in pulmonary function and nutritional status in children with cystic fibrosis.(a) shows the improvements age-related pulmonary function as indicated by forced expiratory volumeat 1 s (FEV1) between the 1990 cohort and 2004 cohort. (b) shows the corresponding improvementsin the median age-specific BMI percentile. Reproduced with permission from the Cystic FibrosisFoundation Registry Report (Cystic Fibrosis Foundation 2006).

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inadequate bone accretion during the growing years is a risk factor for osteoporosis later in

life (Bachrach 2001).

To address this problem, we conducted a study of children with CF in order to determine

whether bone deficits are widespread in childhood and adolescence (Kelly et al. 2008).

Assessment of bone health in a population with poor growth and delayed maturation is a

classic problem for human biologists, since growth and maturation are major determinants

of bone density. Bone density measures by dual energy X-ray absorptiometry (DXA) were

obtained. DXA measures are based on a two-dimensional image of a three-dimensional

object. Because the third dimension is not measured, DXA bone density measurements are

influenced by bone size, such that smaller individuals appear to have lower bone density

(Leonard and Zemel 2002). Accordingly, assessment of bone deficits in CF requires that

their smaller body size be considered. The CF subjects were enrolled in an IRB approved

study (with written informed consent) to measure bone density and related factors. A group

of healthy volunteers from the same institution were used for comparison so the effects of

short stature and altered body composition could be assessed. The CF sample had low

weight-for-age, height-for-age and BMI-for-age z-scores compared to the healthy group.

Bone density was also significantly lower (see Figure 8). However, when we adjusted for

their short stature and/or lean body mass deficits, the deficits in bone density were no longer

clinically or statistically significant. These findings are important because they demonstrate

that small body size is the primary determinant of the bone deficits in children and

adolescents with CF.

In summary, in the past 50 years, there have been profound improvements in the care of

children with CF resulting in significant improvements in life expectancy, pulmonary

function, growth and nutritional status. These gains have increased the need in this patient

population to attend to diseases of adulthood that may have antecedents in childhood.

Osteoporosis is one such concern, but our recent study in children demonstrated that the

low bone density in children with CF is related to their mild growth failure. Thus there is an

ongoing need for improved growth status as it may have long-term benefits for the

complications of osteoporosis in adulthood.

Figure 7. Changing profile of health complications in patients with cystic fibrosis. Now that manypeople with cystic fibrosis survive well into adulthood, the rate of other related health complications,such as bone disease, diabetes and depression, increases sharply with age. Reproduced withpermission from the Cystic Fibrosis Foundation Registry Report (Cystic Fibrosis Foundation 2006).

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Discussion

The study of growth and its disorders is a trans-disciplinary effort to which the field of

human biology has made a significant contribution over the past 50 years. It is a challenging

and engaging area of study encompassing central themes of human biology, such as the

unique characteristics of human growth, the responses of the human organism to the stress

of adverse conditions (including disease), the consequences of early exposures and

developmental adaptations to function and well-being later in life, and the relevance of

body size differences to overall health and survival.

The case studies presented on the growth of children with SCD and CF illustrate many of

these important themes. Growth failure is recognized as a common complication of these

genetic disorders, and was originally thought to be a primary disease characteristic. The

improvements in growth over the past five decades, and the studies demonstrating the role

of nutrition, improved medical therapies and other modifiable factors that contribute to

growth have two important implications. First, growth is still a very basic indicator of a

child’s overall health status. Although growth has improved for children with chronic

diseases such as SCD and CF, in parallel with improvements in treatments and survival, the

growth of these children still lags behind that of their peers. Secondly, growth failure is not

encoded in these genetic defects but is a consequence of disease stresses on the organism.

The goal of normal growth in children with chronic diseases represents an achievement of

well-being that will someday be attained for the majority of these children. Meanwhile,

growth studies of children with chronic diseases provide insights into developmental

plasticity, nutrient requirements, and the relationship between growth and other physio-

logical processes in the human body.

There are still important areas where the expertise of human biologists and other growth

experts is desperately needed to impact the clinical care of children with chronic diseases

and growth disorders. The advances in the collection of national and international reference

data on height, weight and BMI, and construction of growth curves provide essential tools

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BMI Z Ht Z Spine BMC Z WB BMC ZCF Control CF Control CF Control CF Control

Figure 8. Growth and bone mineral status of children with cystic fibrosis (CF) compared to healthycontrols. Children and adolescents with cystic fibrosis were short-for-age, had lower BMI and lowerbone mineral content (BMC) of the spine and whole body (WB). However, when bone measures wereadjusted for stature and/or lean body mass, the differences were no longer statistical significant.Adapted from Kelly et al. (2008).

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for growth assessment. But there is still a paucity of reference data for other aspects of

growth which are needed for clinical care, such as growth velocity and sexual maturity

indicators (e.g. Tanner stages).

Population differences in growth, maturation and body composition have been identified

primarily by human biologists, but the relevance of these differences in clinical care is

uncertain. For example, there are known differences in bone density such that people of

African ancestry have higher bone mass and density than those of European ancestry. For

adults, it is recommended that reference data for Caucasians should be used, since there is

an established association between bone density status (i.e. the Z-score from the bone

density distribution) and hip fracture (Leib et al. 2004). For children, ethnic-specific

reference curves are recommended to assist in the determination of whether the genetic

potential for bone density during the growth period is being attained when evaluating a

child (Gordon et al. 2008). The clinical implications in the choice of population-specific

curves needs to be carefully considered in each case, along with a consideration of ‘optimal’

vs ‘normal’ patterns of growth and development.

The timing of physical maturation is another area that brings the contributions of human

biologists to the front of clinical growth assessment. The continual improvements to the

reference data for skeletal maturation using the Tanner�Whitehouse system provide robust

estimates of biological maturation and the magnitude of bone age delay or advancement for

an individual child as well as groups of patients. There has been considerably less progress

in characterizing normal patterns of sexual maturation; presently there is no adequate way

to define delayed (or advanced) sexual maturation or the magnitude of delay either for an

individual or a population unless it is quite pronounced. Similarly, the nature of ‘catch-up’

growth in the context of delayed sexual and skeletal maturation requires further study.

As a final point, the perspective and experience of human biologists in examining

environmental, cultural and behavioral influences on human health are highly relevant in

understanding growth disorders associated with chronic diseases. Identifying the modifiable

and non-modifiable influences on growth provides a basis for intervention strategies to

improve growth and prevent the long-term sequelae of altered growth, maturation and body

composition.

Declaration of interest: The author reports no conflicts of interest. The author alone is

responsible for the content and writing of the paper.

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