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Maternal & Child Nutrition May 2016Childhood stunting is the best overall indicator of children's well-being and an accurate reflection of social inequalities. Stunting is the most prevalent form of child... (Review)
Review
Childhood stunting is the best overall indicator of children's well-being and an accurate reflection of social inequalities. Stunting is the most prevalent form of child malnutrition with an estimated 161 million children worldwide in 2013 falling below -2 SD from the length-for-age/height-for-age World Health Organization Child Growth Standards median. Many more millions suffer from some degree of growth faltering as the entire length-for-age/height-for-age z-score distribution is shifted to the left indicating that all children, and not only those falling below a specific cutoff, are affected. Despite global consensus on how to define and measure it, stunting often goes unrecognized in communities where short stature is the norm as linear growth is not routinely assessed in primary health care settings and it is difficult to visually recognize it. Growth faltering often begins in utero and continues for at least the first 2 years of post-natal life. Linear growth failure serves as a marker of multiple pathological disorders associated with increased morbidity and mortality, loss of physical growth potential, reduced neurodevelopmental and cognitive function and an elevated risk of chronic disease in adulthood. The severe irreversible physical and neurocognitive damage that accompanies stunted growth poses a major threat to human development. Increased awareness of stunting's magnitude and devastating consequences has resulted in its being identified as a major global health priority and the focus of international attention at the highest levels with global targets set for 2025 and beyond. The challenge is to prevent linear growth failure while keeping child overweight and obesity at bay.
Topics: Body Height; Child, Preschool; Cognition Disorders; Growth Disorders; Humans; Infant; Infant, Newborn; Neurodevelopmental Disorders; Reference Values; Risk Factors; World Health Organization
PubMed: 27187907
DOI: 10.1111/mcn.12231 -
Hormone Research in Paediatrics 2019The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six international... (Review)
Review
The Growth Hormone Research Society (GRS) convened a Workshop in March 2019 to evaluate the diagnosis and therapy of short stature in children. Forty-six international experts participated at the invitation of GRS including clinicians, basic scientists, and representatives from regulatory agencies and the pharmaceutical industry. Following plenary presentations addressing the current diagnosis and therapy of short stature in children, breakout groups discussed questions produced in advance by the planning committee and reconvened to share the group reports. A writing team assembled one document that was subsequently discussed and revised by participants. Participants from regulatory agencies and pharmaceutical companies were not part of the writing process. Short stature is the most common reason for referral to the pediatric endocrinologist. History, physical examination, and auxology remain the most important methods for understanding the reasons for the short stature. While some long-standing topics of controversy continue to generate debate, including in whom, and how, to perform and interpret growth hormone stimulation tests, new research areas are changing the clinical landscape, such as the genetics of short stature, selection of patients for genetic testing, and interpretation of genetic tests in the clinical setting. What dose of growth hormone to start, how to adjust the dose, and how to identify and manage a suboptimal response are still topics to debate. Additional areas that are expected to transform the growth field include the development of long-acting growth hormone preparations and other new therapeutics and diagnostics that may increase adult height or aid in the diagnosis of growth hormone deficiency.
Topics: Child; Growth Disorders; Human Growth Hormone; Humans
PubMed: 31514194
DOI: 10.1159/000502231 -
Internal Medicine (Tokyo, Japan) Jan 2002Growth hormone (GH) secretion from anterior pituitary is regulated by the hypothalamus and the mediators of GH actions. Major regulatory factors include GH releasing... (Review)
Review
Growth hormone (GH) secretion from anterior pituitary is regulated by the hypothalamus and the mediators of GH actions. Major regulatory factors include GH releasing hormone (GHRH), somatostatin (SRIF), GH releasing peptide (ghrerin) and insulin-like growth factor (IGF-I). The principal physiological regulation mechanisms of GH secretion are neural endogenous rhythm, sleep, stress, exercise, and nutritional and metabolic signals. GH deficiency results from various hereditary or acquired causes, which may be isolated or combined with other pituitary hormone deficiencies. GH deficiency can be treated with recombinant human GH, which results in accelerating growth in children and normalization of intermediary metabolism in adults. GH hypersecretion mostly results from a pituitary tumor and causes acromegaly or gigantism. Hypersecretion of GH can be treated by transshenoidal surgery. Medical treatment with octreotide and analogs is also effective to reduce GH secretion in combination with or without the surgery.
Topics: Growth Disorders; Growth Hormone; Growth Hormone-Releasing Hormone; Humans; Insulin-Like Growth Factor I
PubMed: 11838603
DOI: 10.2169/internalmedicine.41.7 -
Nature Reviews. Nephrology Sep 2019Achieving normal growth is one of the most challenging problems in the management of children with chronic kidney disease (CKD). Treatment with recombinant human growth... (Review)
Review
Achieving normal growth is one of the most challenging problems in the management of children with chronic kidney disease (CKD). Treatment with recombinant human growth hormone (GH) promotes longitudinal growth and likely enables children with CKD and short stature to reach normal adult height. Here, members of the European Society for Paediatric Nephrology (ESPN) CKD-Mineral and Bone Disorder (MBD), Dialysis and Transplantation working groups present clinical practice recommendations for the use of GH in children with CKD on dialysis and after renal transplantation. These recommendations have been developed with input from an external advisory group of paediatric endocrinologists, paediatric nephrologists and patient representatives. We recommend that children with stage 3-5 CKD or on dialysis should be candidates for GH therapy if they have persistent growth failure, defined as a height below the third percentile for age and sex and a height velocity below the twenty-fifth percentile, once other potentially treatable risk factors for growth failure have been adequately addressed and provided the child has growth potential. In children who have received a kidney transplant and fulfil the above growth criteria, we recommend initiation of GH therapy 1 year after transplantation if spontaneous catch-up growth does not occur and steroid-free immunosuppression is not a feasible option. GH should be given at dosages of 0.045-0.05 mg/kg per day by daily subcutaneous injections until the patient has reached their final height or until renal transplantation. In addition to providing treatment recommendations, a cost-effectiveness analysis is provided that might help guide decision-making.
Topics: Child; Child, Preschool; Growth Disorders; Human Growth Hormone; Humans; Kidney Transplantation; Renal Dialysis; Renal Insufficiency, Chronic
PubMed: 31197263
DOI: 10.1038/s41581-019-0161-4 -
Current Opinion in Pediatrics Aug 2018Genome-wide approaches including genome-wide association studies as well as exome and genome sequencing represent powerful new approaches that have improved our ability... (Review)
Review
PURPOSE OF REVIEW
Genome-wide approaches including genome-wide association studies as well as exome and genome sequencing represent powerful new approaches that have improved our ability to identify genetic causes of human disorders. The purpose of this review is to describe recent advances in the genetic causes of short stature.
RECENT FINDINGS
In addition to SHOX deficiency which is one of the most common causes of isolated short stature, PAPPA2, ACAN, NPPC, NPR2, PTPN11 (and other rasopathies), FBN1, IHH and BMP2 have been identified in isolated growth disorders with or without other mild skeletal findings. In addition, novel genetic causes of syndromic short stature have been discovered, including pathogenic variants in BRCA1, DONSON, AMMECR1, NFIX, SLC25A24, and FN1.
SUMMARY
Isolated growth disorders are often monogenic. Specific genetic causes typically have specific biochemical and/or phenotype characteristics which are diagnostically helpful. Identification of additional subjects with a specific genetic cause of short stature often leads to a broadening of the known clinical spectrum for that condition. The identification of novel genetic causes of short stature has provided important insights into the underlying molecular mechanisms of growth failure.
Topics: Child; Dwarfism; Genetic Markers; Genetic Predisposition to Disease; Genetic Testing; Genome-Wide Association Study; Growth Disorders; Humans; Exome Sequencing; Whole Genome Sequencing
PubMed: 29787394
DOI: 10.1097/MOP.0000000000000653 -
TheScientificWorldJournal 2021OSA pediatric subjects suffer from episodes of upper airway obstruction that can be partial or complete, with atypical sleep patterns and blood-gas level alteration. If... (Review)
Review
OSA pediatric subjects suffer from episodes of upper airway obstruction that can be partial or complete, with atypical sleep patterns and blood-gas level alteration. If poor treated and/or diagnosed, it can cause cardiovascular disease, learning difficulties, behavioural issues, and retardation of growth. In the literature, there are conflicting evidence about OSA assessment and treatment in pediatric age, so the aim of this paper is to highlight the multidisciplinary approach in the management of sleep disorders, stressing the role of the pediatric dentist in both diagnosing and treating the OSAS in children, according to the current evidence of the treatment options effectiveness of the syndrome itself. . Scientific evidence shows that OSAS management requires a multidisciplinary approach in order to make an early diagnosis and a correct treatment plan. The orthodontic treatment approach includes orthopedic maxillary expansion and mandibular advancement using intraoral appliances. Hence, the orthodontist and the pediatric dentist play an important role not only in early diagnosis but also in the treatment of pediatric OSAS.
Topics: Airway Obstruction; Cardiovascular Diseases; Child; Dentists; Early Diagnosis; Growth Disorders; Humans; Mandibular Advancement; Orthodontics, Corrective; Orthodontists; Sleep Apnea, Obstructive
PubMed: 33981185
DOI: 10.1155/2021/5591251 -
Clinical Genetics Jan 2022Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These... (Review)
Review
Growth promoting variants in PIK3CA cause a spectrum of developmental disorders, depending on the developmental timing of the mutation and tissues involved. These phenotypically heterogeneous entities have been grouped as PIK3CA-Related Overgrowth Spectrum disorders (PROS). Deep sequencing technologies have facilitated detection of low-level mosaic, often necessitating testing of tissues other than blood. Since clinical management practices vary considerably among healthcare professionals and services across different countries, a consensus on management guidelines is needed. Clinical heterogeneity within this spectrum leads to challenges in establishing management recommendations, which must be based on patient-specific considerations. Moreover, as most of these conditions are rare, affected families may lack access to the medical expertise that is needed to help address the multi-system and often complex medical issues seen with PROS. In March 2019, macrocephaly-capillary malformation (M-CM) patient organizations hosted an expert meeting in Manchester, United Kingdom, to help address these challenges with regards to M-CM syndrome. We have expanded the scope of this project to cover PROS and developed this consensus statement on the preferred approach for managing affected individuals based on our current knowledge.
Topics: Class I Phosphatidylinositol 3-Kinases; Consensus Development Conferences as Topic; Diagnosis, Differential; Disease Management; Genetic Association Studies; Genetic Predisposition to Disease; Genetic Testing; Growth Disorders; Humans; Phenotype; Prenatal Diagnosis; Standard of Care
PubMed: 34240408
DOI: 10.1111/cge.14027 -
Ethiopian Journal of Health Sciences May 2022Stunting occurs due to chronic malnutrition and is a major problem for children in developing countries. It is important to evaluate the impact of stunting on the...
BACKGROUND
Stunting occurs due to chronic malnutrition and is a major problem for children in developing countries. It is important to evaluate the impact of stunting on the development of children. This study aimed to investigate the impact of stunting on the development of children between 1-3 years of age.
METHODS
This cross-sectional study was conducted from July 2020 to March 2021 in Surabaya, Indonesia. A questionnaire and growth assessment were done, following the development measurement to stunted and non-stunted children who met the inclusion and exclusion criteria. Development was measured by the Denver Developmental Screening Test II (DDST-II), and Cognitive Adaptive Test/Clinical Linguistic & Auditory Milestone (CAT/CLAMS) scales.
RESULTS
Three hundred children are included in this study, consisting of 150 stunted and 150 non-stunted children. Stunted children had a higher risk to be suspected of delayed development compared to non-stunted children. The Crude Odd Ratio was 2.98, 4.24, 4.75 with the p-value 0.006, 0.001. and 0.001 respectively. The Adjusted Odd Ratio was 0.34, 0.24, 0.21 with p-value of 0.008, 0.001, and 0.001 respectively.
CONCLUSION
Stunting is associated with suspected development delay among children 1-3 years of age. Initiatives related to prevention need to be established and nutrition advice needs to be provided.
Topics: Cross-Sectional Studies; Growth Disorders; Humans; Indonesia; Infant; Nutritional Status; Odds Ratio; Prevalence
PubMed: 35813667
DOI: 10.4314/ejhs.v32i3.13 -
Orphanet Journal of Rare Diseases Sep 2015Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate... (Review)
Review
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia. During ageing, a narrow, convex nose becomes more prominent. The diagnosis MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. In patients with short stature and/or microtia, the patellae should be assessed with care by ultrasonography before age 6 or radiography thereafter. Mutations in one of five genes (ORC1, ORC4, ORC6, CDT1, and CDC6) of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78% of patients with MGS. Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly. Management should be directed towards in-depth investigation, treatment and prevention of associated problems, such as growth retardation, feeding problems, hearing loss, luxating patellae, knee pain, gonarthrosis, and possible pulmonary complications due to congenital pulmonary emphysema with or without broncho- or laryngomalacia. Growth hormone treatment is ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life (usually growth velocity normalizes after the first year) and with low levels of IGF1. At present, few data is available about reproduction of females with MGS, but the risk of premature labor might be increased. Here, we propose experience-based guidelines for the regular care and treatment of MGS patients.
Topics: Abnormalities, Multiple; Congenital Microtia; Female; Growth Disorders; Humans; Male; Micrognathism; Patella; Urogenital Abnormalities
PubMed: 26381604
DOI: 10.1186/s13023-015-0322-x -
The American Journal of Clinical... Sep 2020Progress has been made worldwide in reducing chronic undernutrition and rates of linear growth stunting in children under 5 y of age, although rates still remain high in... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Progress has been made worldwide in reducing chronic undernutrition and rates of linear growth stunting in children under 5 y of age, although rates still remain high in many regions. Policies, programs, and interventions supporting maternal and child health and nutrition have the potential to improve child growth and development.
OBJECTIVE
This article synthesizes the available global evidence on the drivers of national declines in stunting prevalence and compares the relative effect of major drivers of stunting decline between countries.
METHODS
We conducted a systematic review of published peer-reviewed and gray literature analyzing the relation between changes in key determinants of child linear growth and contemporaneous changes in linear growth outcomes over time.
RESULTS
Among the basic determinants of stunting assessed within regression-decomposition analyses, improvement in asset index score was a consistent and strong driver of improved linear growth outcomes. Increased parental education was also a strong predictor of improved child growth. Of the underlying determinants of stunting, reduced rates of open defecation, improved sanitation infrastructure, and improved access to key maternal health services, including optimal antenatal care and delivery in a health facility or with a skilled birth attendant, all accounted for substantially improved child growth, although the magnitude of variation explained by each differed substantially between countries. At the immediate level, changes in several maternal characteristics predicted modest stunting reductions, including parity, interpregnancy interval, and maternal height.
CONCLUSIONS
Unique sets of stunting determinants predicted stunting reduction within countries that have reduced stunting. Several common drivers emerge at the basic, underlying, and immediate levels, including improvements in maternal and paternal education, household socioeconomic status, sanitation conditions, maternal health services access, and family planning. Further data collection and in-depth mixed-methods research are required to strengthen recommendations for those countries where the stunting burden remains unacceptably high.
Topics: Adolescent; Child; Child Development; Child Health; Child, Preschool; Female; Growth Disorders; Humans; Male; Nutritional Status
PubMed: 32860401
DOI: 10.1093/ajcn/nqaa159