Assessment of Nutritional Status in the Diagnostic Evaluation of the Child with Growth Failure.

Current clinical guidelines provide information about the diagnostic workup of children with growth failure. This mini-review focuses on the nutritional assessment, which has received relatively little attention in such guidelines. The past medical history, in particular a low birth size and early feeding problems, can provide information that can increase the likelihood of nutritional deficits or several genetic causes. The current medical history should include a dietary history and can thereby reveal a poorly planned or severely restricted diet, which can be associated with nutritional deficiencies. Children on a vegan diet should receive various nutritional supplements, but insufficient compliance has been reported in one-third of cases. While proper use of nutritional supplements in children consuming a vegan diet appears to be associated with normal growth and development, insufficient intake of supplements may impede growth and bone formation. Physical examination and analysis of height and weight over time can help differentiating between endocrine causes, gastrointestinal disorders, psychosocial problems, or underlying genetic conditions that prevent adequate nutritional intake. Laboratory screening should be part of the workup in every child with short stature, and further laboratory tests can be indicated if warranted by the dietary history, especially in children on a poorly planned vegan diet.

Megaloblastic anaemia in a 9-weeks old infant: A case report.

Megaloblastic anaemia due to vitamin B12 and folic acid deficiency is uncommon in infancy and rarely reported in infants below 3 months of age. We hereby report a case of megaloblastic anaemia in a 9-weeks old infant having fever from 7th week of life. Blood picture showed pancytopenia and diagnosis was confirmed on bone marrow biopsy and serum level of vitamins. Patient positively responded to vitamin B12 and folic acid supplementation. Infants with pancytopenia even younger than 2 months, should also be investigated for vitamin B12 and folate deficiency. Mother of the baby was not antenatally investigated for anaemia. Prompt antenatal diagnosis and treatment of mothers can reduce the incidence in the infants.

An illustrative case for addressing infant mental health referrals.

PROBLEM: Despite knowing the importance of the early detection of adverse experiences, mental health disorders beginning or occurring during early childhood can be difficult to recognize. To address this gap, this manuscript describes the care of a parent-child dyad utilizing the nursing process in an illustrative case. METHODS: This illustrative case provides a scenario that includes the early detection of infant mental health (IMH) in primary care with referral to a psychiatric mental health advanced practice nurse (PMHNP) and highlights how integrative care with PMHNP can facilitate the use of the nursing process to promote optimal early childhood growth and development and prevent long-term mental health problems. FINDINGS: The collaboration between the primary care provider and PMHNP in addressing a common diagnosis observed in IMH (i.e., feeding disorder) where a 6-month-old infant presented with poor weight gain due to detached parenting, secondary to maternal depression, resulted in early infant-parent intervention that reduced maternal depression and normalized infant growth. CONCLUSIONS: The screening of IMH in pediatric primary care promotes early referral and collaboration with the PMHNP to address IMH problems to promote optimal growth and social-emotional development in early childhood.

Growth-and Documentation-Deficits: Where To Start in Helping Families.

CASE: Pedro is a 2-year 7-month-old boy who was presented for the first time after a visit to a local emergency room (ER) for diarrhea. At the time of his birth, his undocumented mother, Clara, was 20 years old, uninsured, and with limited English proficiency living approximately 400 miles south of our practice in a different state. Although she had been brought to the United States as a child, she had never finished high school. Pedro was born what mother thought was full-term at his parent's home, where a lay midwife assisted during the delivery. Pedro was not brought to a medical facility at birth; therefore, neither medical nor legal documentation of his birth in the United States, or elsewhere, existed.After enduring 4 years of ongoing verbal and physical abuse, Clara fled to her maternal aunt in our community. The child's initial exposure to medical care was during the emergency visit, which ended up in referral to us. The ED physician suggested that the child visit a primary care physician, but establishment of pediatric care was not made until months later. The child received his first vaccines and immediately was referred to the Growth and Nutrition clinic due to mild wasting and stunting based on Waterlow criteria.Pedro speaks both English and Spanish and has no 2-word combinations and a 50-word combined vocabulary in English and Spanish. In addition, a complete blood count was consistent with iron deficiency anemia, but both sickle cell and G6PD screening are negative.The nutritionist from the specialty clinic obtained a detailed history including overall appetite, feeding skills, meal plans, and eating environment noting that the child was a competent finger feeder. The family's meals were distributed throughout the day as a meal at home and a shared fast food meal while accompanying mother, as she worked as a hair stylist 6 days per week. In addition, the diet is supplemented by ricewater mixed with sugar and ground carrots throughout the day.Where would you head next?REFERENCE1. Waterlow JC. Classification and definition of protein-calorie malnutrition. Br Med J. 1972;3:566-569.

Environmental Enteric Dysfunction and Growth Failure/Stunting in Global Child Health.

Approximately 25% of the world's children aged <5 years have stunted growth, which is associated with increased mortality, cognitive dysfunction, and loss of productivity. Reducing by 40% the number of stunted children is a global target for 2030. The pathogenesis of stunting is poorly understood. Prenatal and postnatal nutritional deficits and enteric and systemic infections clearly contribute, but recent findings implicate a central role for environmental enteric dysfunction (EED), a generalized disturbance of small intestinal structure and function found at a high prevalence in children living under unsanitary conditions. Mechanisms contributing to growth failure in EED include intestinal leakiness and heightened permeability, gut inflammation, dysbiosis and bacterial translocation, systemic inflammation, and nutrient malabsorption. Because EED has multiple causal pathways, approaches to manage it need to be multifaceted. Potential interventions to tackle EED include: (1) reduction of exposure to feces and contact with animals through programs such as improved water, sanitation, and hygiene; (2) breastfeeding and enhanced dietary diversity; (3) probiotics and prebiotics; (4) nutrient supplements, including zinc, polyunsaturated fatty acids, and amino acids; (5) antiinflammatory agents such as 5-aminosalicyclic acid; and (6) antibiotics in the context of acute malnutrition and infection. Better understanding of the underlying causes of EED and development of noninvasive, practical, simple, and affordable point-of-care diagnostic tools remain key gaps. "Omics" technologies (genomics, epigenomics, transcriptomics, proteomics, and metabolomics) and stable isotope techniques (eg, 13C breath tests) targeted at children and their intestinal microbiota will enhance our ability to successfully identify, manage, and prevent this disorder.

The clinical and biochemical presentation of vitamin D deficiency and insufficiency in children and adolescents.

AIM: To evaluate the clinical and biochemical findings of the children and adolescents with vitamin D deficiency and insufficiency in order to determine the clinical and biochemical presentation differences between age groups. METHODS: This retrospective study included a review of medical reports of 543 patients (aged between 1-17 years) who were referred to our hospital between October 2011 and May 2012 with symptoms related to vitamin D deficiency or insufficiency. The patients were divided into four groups by age: 1-3 years (Group 1), 4-6 years (Group 2), 7-11 years (Group 3) and 12-17 years (Group 4). Patients diagnosed with vitamin D deficiency or insufficiency were evaluated as to their clinical and biochemical findings. RESULTS: Gender distribution were not statistically different between the four groups. The mean ages of Groups 1-4 were 1.9±0.7, 5.1±0.9, 8.9±1.3, 13.1±1.1, respectively. Major complaints on admission were muscle weakness (91%), low weight gain (failure to thrive) (89%), head deformity (frontal bossing) (35.6%), bone deformity (enlargement of wrist and ankles) (29.7%) for Group 1. Muscle weakness (76%) and low weight gain (failure to thrive) (68%) for Group 2. Leg and chest pain were the major symptoms in Group 3 (57% and 28%, respectively) and in Group 4 (26% and 55%, respectively) as well as high rates of obesity (31% and 63%). The biochemical findings of vitamin D deficiency mostly appeared in the first group who developed vitamin D deficiency due to the lack of vitamin D supplementation. However, in older children, the majority of the patients had low 25 hydroxyvitamin D (25 OHD) values without evidence of biochemical findings of osteomalacia. CONCLUSION: Depending on the degree of deficiency and insufficiency, and the age of the patients, the clinical and biochemical findings varied widely. Children under the age of 3 who either never received vitamin D supplementation or who had been receiving supplementation that was stopped too early were at a greater risk for developing clinically and biochemically proved vitamin D deficiency. In older children, low vitamin D levels mostly resulted in subtle complaints without abnormal biochemical findings.

Growth--and documentation-deficits: where to start in helping families.

REFERENCE: Pedro is a 2-year 7-month-old boy who was presented for the first time after a visit to a local emergency room (ER) for diarrhea. At the time of his birth, his undocumented mother, Clara, was 20 years old, uninsured, and with limited English proficiency living approximately 400 miles south of our practice in a different state. Although she had been brought to the United States as a child, she had never finished high school. Pedro was born what mother thought was full-term at his parent's home, where a lay midwife assisted during the delivery. Pedro was not brought to a medical facility at birth; therefore, neither medical nor legal documentation of his birth in the United States, or elsewhere, existed.After enduring 4 years of ongoing verbal and physical abuse, Clara fled to her maternal aunt in our community. The child's initial exposure to medical care was during the emergency visit, which ended up in referral to us. The ED physician suggested that the child visit a primary care physician, but establishment of pediatric care was not made until months later. The child received his first vaccines and immediately was referred to the Growth and Nutrition clinic due to mild wasting and stunting based on Waterlow criteria.Pedro speaks both English and Spanish and has no 2-word combinations and a 50-word combined vocabulary in English and Spanish. In addition, a complete blood count was consistent with iron deficiency anemia, but both sickle cell and G6PD screening are negative.The nutritionist from the specialty clinic obtained a detailed history including overall appetite, feeding skills, meal plans, and eating environment noting that the child was a competent finger feeder. The family's meals were distributed throughout the day as a meal at home and a shared fast food meal while accompanying mother, as she worked as a hair stylist 6 days per week. In addition, the diet is supplemented by rice water mixed with sugar and ground carrots throughout the day.Where would you head next?

Nutritional and metabolic findings in patients with Prader-Willi syndrome diagnosed in early infancy.

OBJECTIVE: Early treatment (growth hormone and nutritional support) improves development in infants with Prader-Willi syndrome. This study aimed to evaluate the nutritional and metabolic condition of nine patients who were diagnosed and treated in early infancy. METHODS: Nine patients were hospitalized at the age of \xe2\u20ac\xa810 days to 11 months because of severe feeding difficulties, failure to thrive, or developmental delay. The diagnosis of Prader-Willi syndrome was confirmed by fluorescence in situ hybridization or other molecular genetic techniques. Nutritional and metabolic investigations including urinary organic acid analysis, blood amino acid, and acylcarnitine profiles were performed. RESULTS: The diagnosis was made at the mean age of 6.3 months. A deletion of the paternal gene in the 15q11-13 region was detected in all patients. Eight patients had ketosis, seven had malnutrition, five had hyperammonemia, three had liver dysfunction, three had low blood cholesterol level, and two had hypoglycemia. All patients had reduction of serum multiple amino acids and free carnitine. Significant arginine deficiency was found in all patients. Six patients had mildly elevated blood long-chain and very long-chain acylcarnitine. After supplementation with l-arginine, medium-chain fatty acids, l-carnitine, and vitamins, all patients responded with improvement of motor development and nutritional conditions. Four patients were almost caught up on physical and psychomotor development. CONCLUSIONS: Patients with Prader-Willi syndrome are in bad metabolic condition in the early period. Early diagnosis and individual nutritional interventions may improve the nutritional and developmental progress and decrease death rate in infancy.

Chylomicron retention disease: report of two cases from a Greek Island.

Chylomicron retention disease (CRD), or Anderson disease, is a rare, hereditary cause of fat malabsorption. It is one of the familial hypocholesterolaemia syndromes, along with homozygous hypobetalipoproteinaemia (HBL) and abetalipoproteinaemia (ABL). We report clinical, laboratory and histological data as well as molecular DNA analysis in the case of a 4-month-old boy with failure to thrive and steatorrhea who was diagnosed with CRD. His mother's first cousin, who was diagnosed as hypobetalipoproteinaemia 30 years ago, was also reviewed and his diagnosis was revised to CRD. Both patients were treated with a low fat diet and supplementation with fat-soluble vitamins resulting in significant improvement. In conclusion, CRD is a well-defined cause of fat malabsorption and can be distinguished from other forms of familial hypocholesterolaemia because of its specific lipid profile.

Novel SLC39A4 mutation in acrodermatitis enteropathica.

Acrodermatitis enteropathica (AE) is a rare autosomal-recessive disorder characterized by dermatitis, alopecia, diarrhea, and retardation of growth and development. AE maps to 8q24.3 and is associated with mutations in the intestinal zinc transporter ZIP4 encoded by the gene SLC39A4. We describe a novel homozygous mutation, 1191insC, in SLC39A4 in a patient from Sierra Leone and suggest that AE should be considered within the differential diagnosis for acrodermatitis in children from Sierra Leone. Genetic testing for this founder mutation can be easily performed for this treatable disorder.

Failure to thrive in childhood.

BACKGROUND: Failure to thrive impairs children's weight gain and growth, their defenses against infection, and their psychomotor and intellectual development. METHODS: This paper is a review of pertinent articles that were published from 1995 to October 2010 and contained the terms "failure to thrive", "underweight", "malnutrition", "malabsorption", "maldigestion" and "refeeding syndrome". The articles were retrieved by a search in the PubMed and Cochrane Library databases. RESULTS: In developed countries, failure to thrive is usually due to an underlying disease. The degree of malnutrition is assessed with anthropometric techniques. For each patient, the underlying disease must be identified and the mechanism of failure to thrive understood, so that proper medical and nutritional treatment can be provided. Nutritional treatment involves either giving more food, or else raising the caloric density of the patient's food. Liquid formulas can be given as a supplement to normal meals or as balanced or unbalanced tube feeds; they can be given orally, through a nasogastric tube, or through a gastrostomy tube. Severely malnourished children with poor oral intake should be treated with parenteral nutrition. To avoid refeeding syndrome in severely malnourished children, food intake should be increased slowly at first, and phosphate, magnesium, and potassium supplements should be given. CONCLUSION: The proper treatment of failure to thrive in childhood consists of treatment of the underlying illness, combined with nutritional treatment that addresses the mechanism of the accompanying failure to thrive.

A clinical study of the intergenerational transmission of eating disorders from mothers to daughters.

Clinicians and researchers have long recognized the existence of eating disorders in very young children, including infants whose mothers have eating disorders. This paper combines reviews of the literature relevant to the study of eating disorders from the perspectives of both research and psychoanalytic theory in order to explore the psychodynamics of the intergenerational transmission of eating-disordered pathology from mother to child. A developmental pathway as well as several mechanisms that illuminate the pathogenesis of the intergenerational transmission of eating disorders are proposed and described. Clinical-observational data from a therapeutic play nursery for mothers with eating disorders and their children are presented, and this material is examined in relation to the proposed psychodynamic pathways of transmission.

Disease severity at time of referral for pediatric failure to thrive and obesity: time for a paradigm shift?

The percent of ideal body weight at first visit to pediatric referral clinics was compared by chart review between patients with failure to thrive and obese patients. Results indicated that underweight children were mildly underweight, whereas the overweight children were severely so. In primary care settings, underweight children may be referred more aggressively than overweight children.

Clinical health problem: failure to thrive.

Families in which NOFTT is present need interventions that target behaviors and identify stressors that contribute to decreased caloric intake. A holistic approach to the situation is required, to deal with considering the problem which may stem from multiple sources. Maternal perceptions of health and diet can be influenced by the practitioner in a sensitive manner, encouraging balance. Infant feeding difficulties can be identified by the practitioner and appropriate referrals can be made to FTT clinics that are experienced in working with these infants and their caregivers. Public health nurses can be utilized to further assess families, follow up on health teaching, and provide referrals to community resources to alleviate stressors. Management of NOFTT by a practitioner in the primary care setting is feasible and cost-effective.

Pseudohypoaldosteronism: report of a case presenting as failure to thrive.

We report a 2 month-old infant referred for failure to thrive. At birth, weight was 3820 g and length 52 cm. After physiologic weight loss, the patient showed no further weight gain for the next two months. On admittance (age 2 mo), weight was 3340 g and length 53 cm; the infant had severe dystrophy, generalized hypotonia and dehydration; blood chemistry showed hyponatremia, hyperkalemia and hypochloremia. A salt losing syndrome of adrenal origin was hypothesized. However, rehydration and hydrocortisone administration failed to correct hyponatremia and hyperkalemia. Endocrine assessment showed high levels of aldosterone and plasma renin activity, suggesting pseudohypoaldosteronism. Oral sodium chloride supplementation normalized electrolyte balance and the patient showed progressive weight gain and catch-up growth, confirming the diagnosis.