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Considerable confusion exists regarding nomenclature, classification, and management of pediatric diffuse lung diseases due to the relative rarity and differences in the spectrum of disease between adults and young children. A multidisciplinary working group was formed to: (1) apply consensus terminology and diagnostic criteria for disorders presenting with diffuse lung disease in infancy; and (2) describe the distribution of disease entities, clinical features, and outcome in young children who currently undergo lung biopsy in North America. Eleven centers provided pathologic material, clinical data, and imaging from all children less than 2 years of age who underwent lung biopsy for diffuse lung disease from 1999 to 2004. Multidisciplinary review categorized 88% of 187 cases. Disorders more prevalent in infancy, including primary developmental and lung growth abnormalities, neuroendocrine cell hyperplasia of infancy, and surfactant-dysfunction disorders, constituted the majority of cases (60%). Lung growth disorders were often unsuspected clinically and under-recognized histologically. Cases with known surfactant mutations had characteristic pathologic features. Age at biopsy and clinical presentation varied among categories. Pulmonary hypertension, presence of a primary developmental abnormality, or ABCA3 mutation was associated with high mortality, while no deaths occurred in cases of pulmonary interstitial glycogenosis, or neuroendocrine cell hyperplasia of infancy. This retrospective cohort study identifies a diverse spectrum of lung disorders, largely unique to young children. Application of a classification scheme grouped clinically distinct patients with variable age of biopsy and mortality. Standardized terminology and classification will enhance accurate description and diagnosis of these disorders.

Chronic malnutrition during infancy, marked by stunting, has been associated with poor cognitive function. We assessed the effect of stunting, diarrhoeal disease, and parasitic infections during infancy on cognitive function in late childhood. We followed up from birth to 2 years, a cohort of 239 Peruvian children for anthropometrics, stool samples, and diarrhoeal status. At 9 years of age, we assessed cognitive function in 143 (69%) with the full-scale intelligence quotient of the Wechsler intelligence scale for children-revised (WISC-R). All findings were adjusted for socioeconomic status and schooling; in addition, findings related to diarrhoea prevalence, Giardia lamblia, and Cryptosporidium parvum were adjusted for severe stunting. During the first 2 years of life, 46 (32%) of 143 children were stunted. Children with severe stunting in the second year of life scored 10 points lower on the WISC-R test (95% Cl 2·4–17·5) than children without severe stunting. Children with more than one episode of G lamblia per year scored 4·1 points (0·2–8·0) lower than children with one episode or fewer per year. Neither diarrhoea prevalence nor C parvum infection was associated with WISC-R scores. Malnutrition in early childhood, indexed by stunting, and potentially G lamblia, are associated with poor cognitive function at age 9 years. If the observed associations are causal, then intervention programmes designed to prevent malnutrition and G lamblia early in life could lead to significant improvement in cognitive function of children in similar lower-income communities throughout the less-developed world.

For early detection of pathological causes of growth failure proper referral criteria are needed, as well as a thorough clinical, radiological and laboratory assessment. In this minireview we first discuss the two consensus-based and one evidence-based guidelines for referral that have been published. The evidence-based guidelines result in a sensitivity of approximately 80% at a false-positive rate of 2%. Then, relevant clues from the medical history and physical examination are reviewed, and specific investigations based on clinical suspicion listed. In the absence of abnormal clinical findings, an X-ray of the hand/wrist and a laboratory screen are usually performed. Scientific evidence for the various components of laboratory screening is scarce, but accumulated experience and theoretical considerations have led to a list of investigations that may be considered until more evidence is available.

Background: At present, whether to use the World Health Organization’s (WHO) growth standards or native growth standards to assess the nutritional status in a given population is unclear. This study aimed to compare the differences between the WHO’s growth standards and China’s growth standards in assessing the nutritional status of children aged 0~36 months. Methods: We used z-scores to evaluate the nutritional status of children. The weight-for-age z-scores (WAZs), length/height-for-age z-scores (LAZ/HAZs), and weight-for-length/height z-scores (WLZ/WHZs) were calculated using the WHO’s growth standards and China’s growth standards. MeNemar’s test was used to compare the nutritional status of children. Results: The results in this study showed that there were differences between the WHO’s standards and China’s standards in assessing children’s nutritional status except for stunting and obesity. The prevalence of underweight assessed using China’s standards was higher than when using the WHO’s standards (except when 3 and 36 months old). The prevalence of wasting was significantly higher when assessed using China’s standards than when using the WHO’s standards from 12 to 36 months. The prevalence of overweight was higher when assessed using the WHO’s standards from 3 to 8 months. Conclusions: Both the WHO’s and China’s growth standards are useful measures in assessing children’s nutritional status but with key significant differences. Therefore, caution should be taken in selecting appropriate measures in a given population.

No evidence-based guideline has been published about optimal referral criteria and diagnostic work-up for tall stature in children. The aim of our study was to describe auxological and clinical characteristics of a cohort of children referred for tall stature, to identify potential candidates for adult height reduction, and to use these observations for developing a simple algorithm for diagnostic work-up and follow-up in clinical practice. Data regarding family and medical history, auxological measurements, bone age development, physical examination, additional diagnostic work-up, and final diagnosis were collected from all children referred for tall stature, irrespective of their actual height standard deviation score (HSDS). Predicted adult height (PAH) was calculated in children above 10 years. Characteristics of patients with an indication for adult height reduction were determined. Hundred thirty-two children (43 boys) with a mean ± SD age of 10.9±3.2 (range 0.5-16.9) years were included in the study. Fifty percent of the referred children had an HSDS ≤2.0 (n=66). Two pathological cases (1.5%) were found (HSDS 2.3 and 0.9). Tall children without pathology were diagnosed as idiopathic tall, further classified as familial tall stature (80%), constitutional advancement of growth (5%), or unexplained non-familial tall stature (15%). Of the 74 children in whom PAH was calculated, epiphysiodesis was considered in six (8%) and performed in four (5%) patients. The incidence of pathology was very low in children referred for tall stature, and few children were potential candidates for adult height reduction. We propose a simple diagnostic algorithm for clinical practice.

No abstract available Copyright © 2010 S. Karger AG, Basel [PUBLICATION ABSTRACT]

We determined whether subclassification of short small for gestational age (SGA) children according to birth anthropometrics could delineate different patterns in gestation, delivery, postnatal growth, response to growth hormone (GH) treatment and parental height. 201 short SGA children were divided into three groups, SGA(L), SGA(L+W) and SGA(L+W+HC), according to birth length (L), weight (W) and head circumference (HC) < or =-2.00 standard deviation score (SDS). SGA(L+W+HC) children were born after the shortest gestational age and more often by caesarean section than SGA(L) children (36.3 vs. 38.1 weeks, 68.4 vs. 24.4%). SGA(L+W) children had an intermediate pattern and experienced most gestational hypertension (p = 0.01). At birth, SGA(L+W+HC) children were shorter than SGA(L) or SGA(L+W) (-4.12 vs. -2.67 and -3.72 SDS, p < or = 0.001). During the first 3 years of life, SGA(L+W+HC) children exhibited an increased growth in height (0.98 SDS) and HC (1.28 SDS) than SGA(L) (height, -0.06 SDS; HC, -0.30 SDS) and SGA(L+W) (height, 0.62 SDS; HC, -0.31 SDS). However, HC SDS remained smaller for SGA(L+W+HC) than the other groups at age 3. The groups did not differ in growth response during GH treatment. SGA(L) children tended to have shorter parents and target height than SGA(L+W+HC) children. Our study shows that subclassification of short SGA children might be a useful method for investigating SGA children as the subgroups revealed a different gestation, delivery and postnatal growth pattern. Response to GH treatment was not different between the groups.

Classical growth hormone insensitivity syndrome (GHIS) comprises a dysmorphic phenotype, extreme short stature (height SDS < 3), normal GH and low IGF-I and IGFBP-3. Wide clinical variation is recognised with classical and atypical forms. We aimed to delineate features of the milder \"atypical\" GHIS phenotype, and to determine whether this correlates with milder auxological and biochemical features. Fifty-nine patients from a European series of 82 patients with GHIS, with strict diagnostic criteria of GHIS, were studied and assigned to classical or atypical GHIS groups according to facial phenotype, i.e. \"classical\" required 2 of 3 recognized GHIS features (frontal bossing, mid-facial hypoplasia and depressed nasal bridge), \"atypical\" required 0 or 1 of these facial features. Classical and atypical GHIS groups were compared in terms of (1) phenotypic features, including high-pitched voice, sparse hair, blue sclera, hypoglycaemia, microphallus, (2) birth length, height SDS, and (3) basal IGF-I, IGF-II, IGFBP-1, IGFBP-3, GHBP and increase in IGF-I on IGF-I generation testing. Fifty patients [24 males, 26 females, aged 8.6 +/- 4.6 years (mean +/- SD)] had \"classical GHIS\", 9 patients (7 males, 2 females, aged 7.8 +/- 4.1 years) had \"atypical GHIS\", 7 with normal facies. Atypical GHIS patients had lesser height deficit (Ht SDS -4.0 +/- 1.4) compared to classical GHIS (-6.7 +/- 1.4), less reduction in IGFBP-3 SDS (atypical -5.5 +/- 3.3; classical -8.6 +/- 2.4), and more had normal GHBP (>10% binding). Other variables were also less frequent in atypical GHIS patients: high-pitched voice 11% (70% classical), sparse hair 11% (42% classical), blue sclera 0% (38% classical), hypoglycaemia 11% (42% classical), and microphallus 14% (1 of 7 males), compared to 79% of classical (19 of 24 males). Atypical GHIS patients, with relatively normal facial appearance, demonstrate less height defect and biochemical abnormalities compared to classical patients. GH insensitivity may be present in children with short stature and an otherwise normal appearance.

Idiopathic extremely short stature probably has several causes. To evaluate the influence of each parent's height on clinical-biological features. 57 patients without intrauterine growth retardation seen at 7.9 +/- 0.4 years for height < or = -3 SD were classified according to the difference between their target height and actual height: < 2 SD in familial short stature (FSS, n = 28) and >2 SD in non-FSS (n = 29). Height decreased from -0.5 +/- 0.1 SD at birth to -2 +/- 0.2 SD at 1 year and -2.7 +/- 0.1 SD at 3 years, but the changes in the two groups were similar. FSS children were shorter than non-FSS children both at birth (p = 0.03) and as adults after growth hormone (GH) treatment (p < 0.05), but their plasma insulin-like growth factor I concentrations and GH peaks were similar. The FSS children fathers' heights were more frequently below -2 SD (64%) than the mothers' heights (35%) and were correlated with height at first evaluation (p < 0.05). For the whole population, the mothers' heights were correlated with birth weight (p < 0.05) and with height at first evaluation (p < 0.03). This study confirms the influence of the mother's height on birth weight and shows how of the father's height influences idiopathic extremely short stature.

Epidemiologic and auxologic characteristics of patients treated with GH during childhood and adolescence and entered in a national registry in Catalonia were studied between 1988 and 1997. At the end of 1997, prevalence was 53.2 treatments/100,000 inhabitants aged 0-14 years. Maximum annual incidence rates were observed in 1990 and 1991 (34.0-35.6 cases/100,000 inhabitants aged 0-14 years). Analysis of treatments terminated in 1993 (n = 548) revealed, for the three principal reasons for cessation of treatment ('near-final height', 'adequate height but further growth potential', and 'poor growth response'), that males began and ended treatment at older ages with a better auxologic situation in SDS than girls at the beginning and end of therapy in the first two subgroups, with a similar duration of therapy. Severe GH deficiency (GHD) [both multiple pituitary hormone deficiency (MPHD) and the most severe isolated GHD (IGHD-A)] was more frequent in the group ending treatment at 'near-final height', whereas cessation of therapy because of 'poor growth response' was more frequent in the group with 'other causes of short stature' and no demonstrable GHD by routine tests. In the near-final height group, after excluding Turner's syndrome, MPHD and GHD cases secondary to brain tumors and GH deficiencies associated with malformative syndromes, positive linear correlations were observed between HSDS at the end of treatment and HSDS at the beginning, predicted adult height SDS (PAHSDS) and target height SDS (THSDS). Multiple regression analysis showed that in this group of patients, 41.4% of the variability in HSDS increment can be explained by the equation: HSDS increment = -0.33 + 0.29 THSDS - 0.68 HSDS at the beginning of treatment. The outcome showed a reasonable use of GH, since good-response cases generally continued treatment until final height whereas therapy was suspended in doubtful cases.