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.

The social work discipline in the management of Failure to thrive in infants and children: an integrated behavioral health approach to pediatric programming.

Failure to thrive (FTT) is a DSM-5/ICD-10 diagnosis which describes infants and children who fail to grow within expected norms. The causes for poor growth are multifactorial and often include psychosocial factors. Social workers are important players in an interdisciplinary team approach to this diagnosis. This research and manuscript focus on the use of an integrated infant mental health pediatric model of practice, and outcomes for one case study. The article will review the social worker's role in the treatment of FTT, effective social work services provided in an integrated behavioral health approach, and a review of a cost-benefit analysis of treatment of FTT in a Primary Care Facility verses a hospital setting.

Pediatric growth faltering: Evaluation and management in primary care.

ABSTRACT: Pediatric growth faltering (GF), previously known as failure to thrive and now also called pediatric malnutrition and weight faltering, is a common clinical finding in primary care. Most pediatric GF cases are caused by inadequate caloric intake, not organic disease states. Evaluation requires clinicians to obtain detailed nutritional, medical, psychosocial, and family histories; take accurate anthropometric measurements; and perform a careful physical examination. Evaluation findings should be analyzed to determine whether targeted diagnostic workup, specialty referral, or a trial of nutritional counseling is indicated. Management includes caregiver education about childhood nutrition and frequent monitoring of growth parameters. A multidisciplinary approach that includes nutritionist, developmental therapist, and other specialty team member involvement is desirable.

Biopsychosocial characteristics of children admitted with failure to thrive.

AIMS: The aim of this study was to characterise and compare the biopsychosocial characteristics of children admitted with failure to thrive (FTT), subdivided into those with underlying medical complexities (categorised as organic FTT - OFTT) and those with none (categorised as non-organic FTT - NOFTT), with a focus on the medical, nutritional, feeding skills and psychosocial domains. METHODS: A retrospective review of medical records was conducted in children admitted with FTT from January 2010 to December 2020. Descriptive statistics were used for data analysis. RESULTS: A total of 353 children were included, with the mean age of presentation 0.82 ± 2.05 years (OFTT 1.16 ± 2.50 years, NOFTT 0.49 ± 1.41 years, P = 0.002). Approximately, half of the children were classified as having OFTT. These children had lower birth weights, were more likely to have a history of intrauterine growth restriction and had longer hospital stays. The NOFTT group had significantly more abnormal feeding strategies identified in their caregivers, whereas the OFTT group had more delayed feeding skills and oral aversion. There was no significant difference in psychosocial domains, with both groups having a comparably high risk of abuse and neglect. CONCLUSIONS: The classification of FTT as non-organic or organic based purely on psychosocial parameters did not reflect the complex nature of FTT within our local population. These groups had different medical variables, and caregiver feeding strategies. A multidisciplinary team approach is recommended for the assessment and intervention for children with FTT to address these domains and the complex interactions between them.

Growth Faltering and Failure to Thrive in Children.

Growth faltering, previously known as failure to thrive, is a broad term describing children who do not reach their expected weight, length, or body mass index for age. Growth is assessed with standardized World Health Organization charts for children younger than two years and Centers for Disease Control and Prevention charts for children two years and older. Traditional criteria for growth faltering can be imprecise and difficult to track over time; therefore, use of anthropometric z scores are now recommended. These scores can be calculated with a single set of measurements to assess malnutrition severity. Inadequate caloric intake, the most common cause of growth faltering, is identified with a detailed feeding history and physical examination. Diagnostic testing is reserved for those who have severe malnutrition or symptoms concerning for high-risk conditions, or if initial treatment fails. In older children or those with comorbidities, it is important to screen for underlying eating disorders (e.g., avoidant/restrictive food intake disorder, anorexia nervosa, bulimia). Growth faltering can usually be managed by the primary care physician. If comorbid disease is identified, a multidisciplinary team (e.g., nutritionist, psychologist, pediatric subspecialists) may be beneficial. Failure to recognize and treat growth faltering in the first two years of life may result in decreased adult height and cognitive potential.

Valoración y seguimiento de pacientes con talla baja en Atención Primaria / Evaluation and follow up of patients with short stature in Primary Care

Introducción: entre las funciones del pediatra de Atención Primaria está la valoración antropométrica. Es importante incluirla en las revisiones del niño sano para detectar casos de talla baja, estudiarlos, derivarlos a Endocrinología si es preciso y realizar el tratamiento correspondiente. Objetivo: describir y analizar el manejo de niños con talla baja en un centro de salud de Atención Primaria. Material y métodos: estudio descriptivo retrospectivo sobre niños con talla baja de entre 2 y 16 años, cuyo centro de salud es el de Villaviciosa de Odón, del 1 de enero de 2020 al 1 de enero de 2022. Se seleccionaron las historias clínicas con la aplicación Consult@web y se revisaron en AP Madrid y Horus. Se realizó el análisis estadístico mediante SPSS. Resultados: se seleccionaron 62 pacientes, de los cuales 19 cumplían criterios de talla baja. Un 16% tenía antecedentes de talla baja familiar y un 16%, de retraso constitucional de crecimiento y desarrollo. La talla media al diagnóstico fue -2,36 ± 0,49 desviaciones estándar. Las pruebas complementarias más frecuentemente solicitadas fueron edad ósea (74%) y analítica de sangre (78%). El diagnóstico más frecuente fue talla baja idiopática (58%). Un 32% recibió tratamiento con hormona de crecimiento. El seguimiento se realizó exclusivamente en Atención Primaria en el 32%. Ante el pequeño tamaño muestral, no se ha obtenido significación estadística en las comparaciones. Conclusiones: la talla baja es un motivo frecuente de consulta en Atención Primaria, siendo importante realizar una valoración completa, reconociendo aquellos datos de alarma que hagan sospechar patología asociada (AU)

Introduction: anthropometric assessment is one of the functions of the Primary Care pediatrician. It is important to include it in healthy children check-ups in order to detect those cases of short stature, study them, refer them to Endocrinology if necessary and carry out the corresponding treatment.Objective: to describe and analyze the management of children with short stature in a primary care health center.Material and methods: retrospective descriptive study on children with short stature between 2 and 16 years of age, whose Health Center is Villaviciosa de Odón, from January 1, 2020 to January 1, 2022. The medical records were selected in the Consult@web application and reviewed in AP Madrid and Horus. Statistical analysis was performed using SPSS.Results: 62 patients were studied, of whom 19 met the criteria for short stature. 16% had a family history of short stature and 16% had a history of constitutional delay of growth. Mean height at diagnosis was -2,36 ± 0,49 SD. The most frequently requested complementary tests were bone age (74%) and blood tests (78%). The most frequent diagnosis was idiopathic short stature (58%). 32% received growth hormone treatment. Follow-up was carried out exclusively in primary care in 32%. Given the small sample size, no statistical significance was obtained in the comparisons.Conclusions: short stature is a frequent reason for consultation in Primary Care, being important to perform a complete evaluation recognizing those alarming data that lead to suspect associated pathology. (AU)

Infancy weight faltering and childhood neurodevelopmental disorders: a general population birth-cohort study.

While it is known that intrauterine growth restriction is associated with later mental disorders, it is still unclear whether similar associations exists for postnatal weight faltering, also known as 'failure to thrive' in infancy. This study examined the potential connection between infancy weight faltering and mental disorders diagnosed in childhood focusing specifically on neurodevelopmental disorders. The Copenhagen Child Cohort (CCC2000) was used to explore weight gain in infancy assessed by community health nurses. Data from the Danish national registries were used to quantify ICD-10 mental disorders diagnosed between birth and 12 years of age, as well as potential child and family confounders. Of 4.476 children with sufficient weight data, 339 (7.3%) children were diagnosed with a mental disorder in childhood. Both any (weight gain < -1SD) and severe infancy weight faltering (weight gain < -2SD) were associated with psychomotor delays, while severe infancy weight faltering was also associated with intellectual impairments. Notably, no significant associations were found between weight faltering and autism spectrum disorders or attention deficit hyperactivity disorders. Weight faltering in infancy may be an early marker of neurodevelopmental delays. This possibility should be considered when assessing infants with slow weight gain, to early identification and treatment of co-occurring neurodevelopmental disorders.

Underdevelopment of gut microbiota in failure to thrive infants of up to 12 months of age.

Laboratory and clinical studies have revealed the importance of gut microbiota in children with severe pediatric pathological conditions such as severe acute malnutrition (SAM); however, under relatively milder conditions such as, failure to thrive (FTT), the role of the gut microbiota remains poorly characterized. Here, we analyzed stool samples from 54 subjects with a clinical diagnosis of failure to thrive (FTT), 49 preterm subjects with corrected normal growth (NFTT-pre), and 49 healthy subjects (NFTT) between 3-12 months of age using 16S rRNA gene sequencing. We observed that the clinical condition of FTT, age, head circumference, intrauterine growth restriction (IUGR), and feeding methods significantly affected gut microbiota. The microbiota age of subjects was significantly correlated with their anthropomorphic features, and the FTT subjects exhibited underdeveloped gut microbiota characterized by a significantly decreased microbiota-for-age Z-score (MAZ). The FTT and NFTT-pre groups exhibited an obvious disrupted developmental trajectory of gut microbiota across age, and the development of their alpha diversities and the observed OTU and Shannon indices were inadequate, particularly in subjects with FTT. Moreover, sequential colonization and enrichment of bacteria such as Bacteroides, Bifidobacterium, Streptococcus and most age-discriminatory bacterial taxa and their microbial functions were disorganized in FTT compared to that in NFTT. Our results revealed an underdevelopment of the gut microbiota in infants with failure to thrive that possesses potential clinical and practical importance.

Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay.

We report the case of a boy with a prolonged diagnostic workup for global developmental delay alongside feeding difficulties, failure to thrive, pulmonary stenosis and macrocephaly. Following a series of diagnostic tests over the first 25 months of life, whole-exome sequencing was performed which diagnosed cardiofaciocutaenous syndrome type 3.Global developmental delay is a common presentation to general paediatric and community paediatric clinics. This prompts the search for an aetiology to describe the child's constellation of symptoms which often consists of a chromosomal microarray, neuroimaging and investigations for an inborn error of metabolism. With developments in genetic testing such as the reducing cost of clinical exome sequencing or whole-exome sequencing, could these testing strategies offer a more comprehensive first line test?This case not only demonstrates the features of cardiofaciocutaneous syndrome type 3 but the added value of modern genetic technologies in the diagnosis of children with global developmental delay.

The heart in RASopathies.

The cardiovascular phenotype associated with RASopathies has expanded far beyond the original descriptions of pulmonary valve stenosis by Dr Jaqueline Noonan in 1968 and hypertrophic cardiomyopathy by Hirsch et al. in 1975. Because of the common underlying RAS/MAPK pathway dysregulation, RASopathy syndromes usually present with a typical spectrum of overlapping cardiovascular anomalies, although less common cardiac defects can occur. The identification of the causative genetic variants has enabled the recognition of specific correlations between genotype and cardiac phenotype. Characterization and understanding of genotype-phenotype associations is not only important for counseling a family of an infant with a new diagnosis of a RASopathy condition but is also critical for their clinical prognosis with respect to cardiac disease, neurodevelopment and other organ system involvement over the lifetime of the patient. This review will focus on the cardiac manifestations of the most common RASopathy syndromes, the relationship between cardiac defects and causal genetic variation, the contribution of cardiovascular abnormalities to morbidity and mortality and the most relevant follow-up issues for patients affected by RAS/MAPK pathway diseases, with respect to cardiac clinical outcomes and management, in children and in the adult population.

Diencephalic syndrome in childhood, a challenging cause of failure to thrive: miniseries and literature review.

The aim of our study was to better define the clinical pattern of diencephalic syndrome, a rare but potentially lethal cause of failure to thrive in infancy. Poor weight gain or weight loss, the characteristic presenting feature, often firstly attributed to gastrointestinal or endocrinological or genetic diseases, is secondary to a malfunctioning hypothalamus, caused by a diencephalic tumor. Due to its unexpected clinical onset, diagnostic delay and misdiagnosis are common. We described a case series of 3 children with diencephalic syndrome admitted at our Hospital, over a 5-year period. Furthermore, a narrative review on all pediatric cases published in the last seventy years was performed. Clinical pattern, timing to diagnosis, neuroimaging, management, and outcome were analyzed. Our three cases are singularly described in all clinical and diagnostic findings. Overall, 100 children were selected; all these cases as well as our children presented with failure to thrive: 96% had body mass index or weight-length/height ratio lower than 5th percentile. Vomiting and hyperactivity are reported in 35 and 26% of cases, respectively. The neurological features, mainly nystagmus reported in 43%, may occur late in the disease course. In conclusion, the diagnostic delay is the hallmark of diencephalic syndrome, confirming the lack of knowledge by clinicians. The poor weight gain/loss despite adequate length growth and food intake, especially in children with hyperactivity and good psychomotor development, should alert pediatricians towards this condition, before neurological signs/symptoms occurrence.

EEF1A2 pathogenic variant presenting in an infant with failure to thrive and frequent apneas requiring respiratory support.

EEF1A2 is a gene whose protein product, eukaryotic translation elongation factor 1 alpha 2 (eEF1A2), plays an important role in neurodevelopment. Reports of individuals with pathogenic variants in EEF1A2 are rare, with less than 40 individuals reported world-wide, however a common feature is the association of the variant with developmental and epileptic encephalopathy. Thus far, there have been limited reports of other organ systems or body functions affected by variants in this gene. Here, we present a case of a child with EEF1A2-related disorder who presented at 3 months of age with hypotonia, microcephaly, failure to thrive, and respiratory insufficiency with central apneas requiring respiratory support. Our case highlights the notion that the respiratory system may be highly implicated in EEF1A2-related disorder, allowing for better phenotypic characterization of the disorder.

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.

BACKGROUND: Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. It is a rare syndrome, with about 300 patients reported. Main clinical manifestations include facial dysmorphisms, growth failure, heart defects, developmental delay, and ectodermal abnormalities. Mutations (mainly missense) of four genes (BRAF, MAP 2 K1, MAP 2 K2, and KRAS) have been associated to CFCS. However, whole gene deletions/duplications and chromosomal microdeletions have been also reported. Specifically, 19p13.3 deletion including MAP 2 K2 gene are responsible for cardio-facio-cutaneous microdeletion syndrome, whose affected subjects show more severe phenotype than CFCS general population. CASE PRESENTATION: Hereby, we report on a female newborn with prenatal diagnosis of omphalocele, leading to further genetic investigations through amniocentesis. Among these, array comparative genomic hybridization (a-CGH) identified a 19p13.3 microdeletion, spanning 1.27 Mb and including MAP 2 K2 gene. Clinical features at birth (coarse face with dysmorphic features, sparse and friable hair, cutaneous vascular malformations and hyperkeratotic lesions, interventricular septal defect, and omphalocele) were compatible with CFCS diagnosis, and further postnatal genetic investigations were not considered necessary. Soon after discharge, at around 1 month of life, she was readmitted to our Neonatal Intensive Care Unit due to repeated episodes of vomiting, subtending a hypertrophic pyloric stenosis (HPS) which was promptly identified and treated. CONCLUSIONS: Our report supports the 19p13.3 microdeletion as a contiguous gene syndrome, in which the involvement of the genes contiguous to MAP 2 K2 may modify the patients' phenotype. It highlights how CFCS affected subjects, including those with 19p13.3 deletions, may have associated gastrointestinal defects (e.g., omphalocele and HPS), providing further data on 19p13.3 microdeletion syndrome, and a better characterization of its genomic and phenotypic features. The complex clinical picture of such patients may be worsened by additional, and even precocious, life-threatening conditions like HPS. Clinicians must consider, anticipate and/or promptly treat possible medical and surgical complications, with the aim of reducing adverse outcomes. Extensive diagnostic work-up, and early, continuous, and multidisciplinary follow-up, as well as integrated care, are necessary for the longitudinal clinical evolution of any single patient.

Transaminase Elevation in Nutritional Infantile Failure to Thrive.

INTRODUCTION: Laboratory investigations pursued for infants with failure to thrive (FTT) often show mild transaminase elevations, the incidence and significance of which are unknown. METHODS: This retrospective chart review included infants diagnosed with simple nutritional FTT at a single academic tertiary care system. Comparisons of diagnostic studies and outcomes between children with and without transaminase elevation were performed using chi-square and Wilcoxon rank sum tests. RESULTS: None of the infants with abnormal transaminases required additional follow-up or developed alternative diagnoses in the following year. DISCUSSION: Transaminase elevation may be common in infants with FTT and may not warrant further investigation if the history indicates an isolated etiology of insufficient nutrition.