Disorders In Infants Research Articles

Outpatient clinical care for bronchopulmonary dysplasia: A survey of the BPD collaborative.

Bronchopulmonary dysplasia, a sequela of preterm birth, is the most common chronic respiratory disorder in infancy, and the second most common in children. Despite this, clinical care remains highly variable with guidelines supported by limited evidence, and do not provide specific guidance for timing of clinical follow-up, echocardiography, modalities of pulmonary function testing, etc. OBJECTIVE/METHODS: To further our understanding of care delivery for BPD, we sought to describe outpatient care patterns at tertiary care centers through survey data from 27 well-established BPD programs. We observed variability in referral patterns to outpatient BPD clinics, ancillary services provided, indications for follow-up echocardiograms, availability of lung function testing, and criteria for discharge from care. More comprehensive and detailed clinical guidelines similar to other pulmonary diseases such as asthma and cystic fibrosis should be developed to help standardize care and may improve long term outcomes.

Невротические состояния женщин и особенности отношения к новорожденному в ситуации «отягощенного» материнства

<p style="text-align: justify;"><strong>Objectives. </strong>The growing number of children with mental health needs leads to an increase in the need for research on this issue. The subjective phenomenon of "burdened" motherhood is considered as an environmental risk factor for child mental health disorders. The article presents the results that allow us to consider the attitude to the newborn and the pronounced neurotic states of the mother among the unfavorable factors in the formation of the "mother-child" dyad.</p> <p style="text-align: justify;"><strong>Methods</strong>. A total of 228 women participated in the study. Comparison groups of 173 respondents were formed. The unifying criterion of the groups is the special conditions for the formation of the "mother-child" system in the situation of "burdened" motherhood. 55 women with preserved reproductive function, whose pregnancy ended with the birth of a healthy child, are classified as "conditional norm". The Pregnant Woman's Attitude Test by I.V. Dobryakov, the Clinical Questionnaire of Neurotic States by K.K. Yakhin and D.M. Mendelevich, the method of semi-structured interview, the methods of statistical processing of empirical data Mann-Whitney U-test and Spearman's rank correlation coefficient were used.</p> <p style="text-align: justify;"><strong>Results. </strong>Women in a situation of "burdened" motherhood are more likely to transmit an anxious attitude towards the newborn (U = 210.0; p = 0.004235). Positive correlations between anxious and depressive attitudes towards the newborn and indicators on the asthenia scale of the Neurotic States Questionnaire (r = 0.39; <0.05) are described. Empirical data have confirmed the presence of pronounced neurotic states in women in the situation of "burdened" motherhood on the following scales: "anxiety", "hysterical type of reaction", "obsessive-phobic disorders" and "vegetative disorders".</p> <p style="text-align: justify;"><strong>Conclusions. </strong>The obtained data indicate that the features of the attitude towards the newborn and the level of severity of neurotic states in women in the situation of "burdened" motherhood, can be considered among the risk factors for mental health disorders in infancy and young age.</p>

Regulatory problems and developmental psychopathology within the first 2 years of living—a nested in cohort population-based study

BackgroundInfancy regulatory problems (RP) of sleep, feeding and eating, and excessive crying are thought to play a key role in the development of psychopathology in childhood, but knowledge of the early trajectories is limited.ObjectiveTo explore RP at ages 8–11 months and the associations with mental health problems at 1½ years, and assess the influences of maternal mental health problems and relationship problems.MethodsRP was explored in a nested in-cohort sample (N = 416) drawn from a community-based cohort (N = 2,973). Cohort children were examined by community health nurses, using a mental health screening, which included seven items of RP. Follow-up at 1½ years included diagnostic assessment according to the International Classification of Diseases, ICD-10, and the Diagnostic Classification of Mental Health and Developmental Disorders in Infancy and Early Childhood: Revised edition, DC:0-3R. Data analyses included logistic regression models and analyses of the mediation effect of maternal mental health and relationship problems.ResultsRP of sleep were associated with a 2-fold increased risk of child mental disorder specifically sleep disorders, adjusted odds ratio (OR) 9.3 [95% confidence interval (CI): 2.0–42.9], disorders of behavior and emotions, adjusted OR 2.9 (95% CI: 1.0–8.4), and DC:0-3R regulatory disorders, adjusted OR 2.7 (95% CI: 1.0–7.5). Children with RP of feeding and eating showed an increased risk of overall mental disorder, adjusted OR 1.4 (95% CI: 0.7–2.4), and specifically, feeding and eating disorders, adjusted OR 6.0 (95% CI: 1.6–21.7), disorders of behavior and emotions, adjusted OR 2.2 (95% CI: 0.9–5.8), as well as DC:0-3R regulatory disorders, adjusted OR 1.6 (1.0–7.5). RP of emotional regulation were associated with increased risk of any mental disorder, adjusted OR 1.5 (1.0–2.4), and specifically behavioral and emotional disorders, adjusted OR 2.2 (95% CI: 0.9–5.9) and DC:0-3R relationship disorders, adjusted OR 1.8 (95% CI: 0.9–3.8). The mediation effect of maternal mental health problems and relationship problems ranged between 0% and 48%.ConclusionRP at ages 8–11 months is associated with increased risk of ICD-10 and DC:0-3R disorders at 1½ years. Study findings highlight a group of vulnerable infants in need of preventive intervention to break the early trajectories of psychopathology.

An Overview of the Management of Functional Gastrointestinal Disorders in Infancy

This review article will address the frequently encountered functional gastrointestinal disorders (FGIDs) occurring in infancy. The clinical features and management of infant regurgitation, infant colic, infant dyschezia, and functional constipation are discussed with reference to the most recent literature and evidence. Management should be focused on ruling out organic causes with careful history and examination, and then reassurance for the caregiver in this often very stressful period of parenting. There is often no or minimal pharmacological treatment necessary for FGIDs and treatment should be individualised for each patient and family.

The Beneficial Role of Probiotics in the Maintenance of Immunologic Equilibrium for Functional Gastrointestinal Disorders in Infancy

The Beneficial Role of Probiotics in the Maintenance of Immunologic Equilibrium for Functional Gastrointestinal Disorders in Infancy

Impact of Functional Gastrointestinal Disorders in Infancy and the Role of Nutrition

Functional gastrointestinal disorders (FGIDs) such as infantile colic, constipation and colic occur in almost half of the infants. Functional gastrointestinal disorders (FGID) are common among children and may cause a significant symptom burden. The Rome criteria are symptom-based guidelines for the assessment of FGID among children and adults. The most common FGID for children aged 0–12 months was infant regurgitation, the most common FGID for those aged 13–48 months were functional constipation and cyclic vomiting, and, for those aged over four years, functional constipation, functional dyspepsia, and irritable bowel syndrome. This reported overall incidence of FGID may be used as a benchmark of normative data among the general population and comparative data for those with comorbid disease. The aim of this mini review article is to provide a critical and updated review on the management of FGIDs and their impact on the health of the infant and family to health care physicians. Guidelines and expert recommendations were reviewed. FGIDs are a frequent cause of parental concern, impairment in quality of life of infants and relatives, and impose a financial burden to families, health care, and insurance. Therefore, primary management of the FGIDs should be focused on improving the infants’ symptoms and quality of life of the family. If more than parental reassurance is needed, available evidence recommends nutritional advice as it is an effective strategy and most of the time devoid of adverse effects. The role of healthcare providers in reassuring parents and proposing the correct behavior and nutritional intervention by avoiding inappropriate use of medication, is essential in the management of FGIDs.

Prematurity and functional gastrointestinal disorders in infancy: a cross-sectional study.

ABSTRACTBACKGROUND: Functional gastrointestinal disorders (FGIDs) are defined as a variable combination of chronic or recurrent gastrointestinal symptoms that are not explained by structural or biochemical abnormalities. Their relationship with prematurity has been increasingly studied.OBJECTIVE: To compare the frequency of FGIDs in preterm and term infants and to evaluate whether invasive procedures during the neonatal period in preterm infants are associated with greater likelihood of FGIDs in the first two years of life.DESIGN AND SETTING: Controlled nested cross-sectional study conducted in a Brazilian university hospital.METHODS: This was a controlled nested cross-sectional study on a retrospective cohort of infants born preterm who were compared with infants born at term regarding the presence of FGIDs. Medical consultations were conducted by a single pediatric gastroenterologist to obtain information on the gestational and neonatal periods and on clinical manifestations of the digestive tract. The Rome IV criteria for the diagnosis of FGIDs were used.RESULTS: A total of 197 infants (< 24 months), including 99 preterm and 98 term infants, were studied. Infant regurgitation was more prevalent in term infants (35.1% and 15.6%; P < 0.001). The frequencies of other FGIDs (infant colic, functional constipation, functional diarrhea and infant dyschezia) in preterm infants did not differ from those of term infants (P > 0.05). No relationship was found between invasive procedures during the neonatal period and development of FGIDs in preterm infants.CONCLUSION: Infants born preterm did not have higher frequency of FGIDs in the first two years of life.

Emerging signs of autism spectrum disorder in infancy: Putative neural substrate.

Autism spectrum disorder (ASD) is characterized by altered development of the social brain with prominent atypical features in the fronto-temporo-parietal cortex and cerebellum. Early signs of ASD emerge between 6 and 12 months: reduced social communication, slightly less advanced motor development, and repetitive behaviour. The fronto-temporo-parietal cortex and cerebellum play a prominent role in the development of social communication, whereas fronto-parietal-cerebellar networks are involved in the planning of movements, that is, movement selection. Atypical sensory responsivity, a core feature of ASD, may result in impaired development of social communication and motor skills and/or selection of atypical repetitive behaviour. In the first postnatal year, the brain areas involved are characterized by gradual dissolution of temporary structures: the fronto-temporo-parietal cortical subplate and cerebellar external granular layer. It is hypothesized that altered dissolution of the transient structures opens the window for the expression of early signs of ASD arising in the impaired developing permanent networks. WHAT THIS PAPER ADDS: The early social and motor signs of autism spectrum disorder emerge between the ages of 6 and 12 months. Altered dissolution of transient brain structures in the fronto-temporo-parietal cortex and cerebellum may underlie the emergence of these early signs.

Congenital Cystic Adenomatoid Malformation in an Adolescent: An Unusual Presentation with Pleural Effusion and Pneumatocele

Congenital cystic adenomatoid malformation (CCAM) encompasses a continuum of hamartomatous cystic lung lesions characterised by the presence of abnormal bronchiolar structures of varying sizes or distribution. The CCAM is a disorder of infancy with majority of the cases being diagnosed within the first two years of life. We describe CCAM in a 13-year-old girl complaining of recurrent lower respiratory tract infections since infancy who presented with post-infectious pneumatocele with loculated pleural effusion, and suspected abscess formation and had undergone resection.

The Relevance of the Bacterial Microbiome, Archaeome and Mycobiome in Pediatric Asthma and Respiratory Disorders.

Bacteria, as well as eukaryotes, principally fungi, of the upper respiratory tract play key roles in the etiopathogenesis of respiratory diseases, whereas the potential role of archaea remains poorly understood. In this review, we discuss the contribution of all three domains of cellular life to human naso- and oropharyngeal microbiomes, i.e., bacterial microbiota, eukaryotes (mostly fungi), as well as the archaeome and their relation to respiratory and atopic disorders in infancy and adolescence. With this review, we aim to summarize state-of-the-art contributions to the field published in the last decade. In particular, we intend to build bridges between basic and clinical science.

Early screening tools for Autism Spectrum Disorder in infancy and toddlers

Early screening tools for Autism Spectrum Disorder in infancy and toddlers

Perinatal Depression

Key Points Perinatal mood and anxiety disorders affect 15% to 20% of mothers from conception to 1 year postpartum and 4% to 25% of fathers.Infants of affected mothers are at risk for impaired social interaction, delays in language and cognitive development, failure to thrive, reactive attachment disorder of infancy, early discontinuation of breastfeeding, and neglect and abuse; longer-term adverse effects can be seen in the child’s learning, memory, behavioral, and emotional adaptation.Formal screening for perinatal depression at infant preventive visits, consistent with the peaks of occurrence, is recommended by Bright Futures, 4th Edition; US Preventive Services Taskforce (2016); and Centers for Medicare &amp; Medicaid Services (2016).Caregivers with a positive screen result and/or symptoms of depression should be triaged for a psychiatric or social emergency and their infants should be screened and followed for potential social-emotional problems.Management is 2-generational.For the parents, demystification, brief interventions to promote the mother-infant relationship and encourage social connections, and referral for evidence-based therapy (individual or couple), emergency medical services, or hospitalizationFor the child, regular monitoring of social-emotional development and Early Intervention Part C servicesFor the mother-infant dyad, evidence-based therapy by a pediatric mental health specialist with expertise in treating infants and young children (0–5 years of age).

Relationship between macrocephaly and autism spectrum disorder in infancy

An arab four years old boy presented with macrocephaly and autism spectrum disorder (ASD). His father’s head circumference was 64 cm (&gt; 97°C) without any significant behavioral problems. Skin lesions suspected of trichilemmomas was visible on the father’s face. His mother and two brothers had no macrocephaly or other dysmorphisms. The child was born at full term and all the auxological parameters were higher than the 97°C (weight 4365 g, height 55 cm, head circumference 38 cm) but during the boy’s growing up the skull’s circumference showed an increasing trend, going well above the 97°C. The child started to walk alone at 18 months and at 14 months he pronounced only a few words in arabic with a successive progressive language regression. At the age of 3 years and 6 months, a diagnosis of autism spectrum syndrome (ASD) was made. At physical examination, macrocephaly was confirmed (CC 57.5 cm, &gt;97°C) while the other auxological parameters where in a lower range and he showed a characteristic habitus with elongated face shape, rounded forehead, downslanting palpebral fissures with hypertelorism, thin upper lip, pointed chin, angled, rotated auricles, no macroglossia, no skin spots and no other pathologic sign. Ophtalmological examination showed pseudopapilledema from papillary drusen. Brain MRI confirmed macrocephaly and excluded intracranial anomalies. A genetic analysis showed a nonsense variant in the PTEN gene in heterozygosity diagnosis of Cowden Syndrome (CS). The same variant was subsequently performed in the child’s parents showing the same mutation in the father. The child continued the neurodevelopmental and clinical-dermatological follow-up. The baby’s father instead began the oncological follow-up for the risk of developing colon cancer, renal cell carcinoma, papillary and follicular thyroid cancer.

Transient benign paroxysmal movement disorders in infancy.

Transient benign paroxysmal movement disorders in infancy encompass a group of disorders that appear during the neonatal period and in the first years of life, and that spontaneously disappear without leaving consequences. This article aimed to review the main transient benign paroxysmal movement disorders in infancy, focusing on recognition and diagnostic approach. Overall, it includes entities such as: jitteriness, benign neonatal sleep myoclonus, shuddering, benign myoclonus of early infancy, transient idiopathic dystonia in infancy, spasmus nutans, paroxysmal tonic upgaze of infancy, and benign paroxysmal torticollis. Transient benign paroxysmal movement disorders are non-epileptic paroxysmal episodes, and their diagnosis is eminently clinical. The correct recognition of these entities is crucial to avoid anxiety, unnecessary complementary exams, and treatments.

Cardiometabolic outcomes in children and adolescents with West syndrome

BackgroundWest syndrome is a convulsive disorder of infancy with unique seizures and a characteristic background electroencephalograph pattern. Adrenocorticotropic hormone (ACTH) is effective in spasm cessation, yet metabolic consequences of this therapeutic agent in childhood have not been published.MethodsIn this observational study we explored the cardiometabolic outcomes of 117 children with West syndrome (78 ACTH-treated and 39 non-ACTH-treated) monitored at a single medical center from 1995 to 2019 (median follow-up 7.2 years). Outcomes included the prevalence of cardiometabolic derangements (obesity, hypertension, and dyslipidemia) during infancy (< 2 years), early childhood (2–6 years), and childhood/adolescence (6–18 years).ResultsThe rates of metabolic derangements during infancy in the West syndrome cohort were high compared to childhood/adolescence (obesity 27.3 % vs. 3.3 %, [p = 0.010], diastolic hypertension 48.8 % vs. 5.1 % [p < 0.001], hypertriglyceridemia 71 % vs. 40 % [p = 0.008], low high-density lipoprotein cholesterol [HDL-c] 54.2 % vs. 12.9 % [p = 0.001], and elevated triglycerides/HDL-c ratios 62.5 % vs. 12.9 % [p < 0.001]). The proportion of systolic and/or diastolic blood pressure levels categorized as hypertensive was 58.5 % during infancy, 48.1 % during early childhood, and 26.3 % during childhood/adolescence. ACTH-treated patients had higher weight and weight-to-length z-scores and higher triglyceride levels during infancy compared to non-ACTH-treated patients (p = 0.008, p = 0.001, and p = 0.037, respectively), and higher triglyceride levels during early childhood (p = 0.050), with no significant group differences during childhood/adolescence.ConclusionsChildren with West syndrome apparently have an increased prevalence of cardiometabolic derangements more pronounced in infants and in ACTH-treated patients. These findings highlight the need to monitor these children for cardiometabolic derangements, even though these cardiometabolic abnormalities are transitory and tend to decrease with time. The health implications of cardiometabolic derangements during critical windows of growth and development warrant further investigation.

Hydrolysed Formulas in the Management of Cow's Milk Allergy: New Insights, Pitfalls and Tips.

An allergy to cow’s milk requires the avoidance of cow’s milk proteins and, in some infants, the use of a hypoallergenic formula. This review aims to summarize the current evidence concerning different types of hydrolysed formulas (HF), and recommendations for the treatment of IgE- and non-IgE-mediated cow’s milk allergy and functional gastrointestinal disorders in infancy, for which some dietary intervention and HF may be of benefit to both immune and motor mechanisms. Current guidelines recommend cow’s milk protein (i.e., whey or casein) extensively hydrolysed formula (eHF) as the first choice for cow’s milk allergy treatment, and amino acid formulas for more severe cases or those with reactions to eHF. Rice hydrolysed formulas (rHF) have also become available in recent years. Both eHF and rHF are well tolerated by the majority of children allergic to cow’s milk, with no concerns regarding body growth or adverse effects. Some hydrolysates may have a pro-active effect in modulating the immune system due to the presence of small peptides and additional components, like biotics. Despite encouraging results on tolerance acquisition, evidence is still not conclusive, thus hampering our ability to draw firm conclusions. In clinical practice, the choice of hypoallergenic formula should be based on the infant’s age, the severity, frequency and persistence of symptoms, immune phenotype, growth pattern, formula cost, and in vivo proof of tolerance and efficacy.

Maternal Parenting Stress in the Face of Early Regulatory Disorders in Infancy: A Machine Learning Approach to Identify What Matters Most.

Objective: Early regulatory disorders (ERD) in infancy are typically associated with high parenting stress (PS). Theoretical and empirical literature suggests a wide range of factors that may contribute to PS related to ERD. The aim of this study was to identify key predictors of maternal PS within a large predictor data set in a sample of N = 135 mothers of infants diagnosed with ERD.Methods: We used machine learning to identify relevant predictors. Maternal PS was assessed with the Parenting Stress Index. The multivariate dataset assessed cross-sectionally consisted of 464 self-reported and clinically rated variables covering mother-reported psychological distress, maternal self-efficacy, parental reflective functioning, socio-demographics, each parent's history of illness, recent significant life events, former miscarriage/abortion, pregnancy, obstetric history, infants' medical history, development, and social environment. Variables were drawn from behavioral diaries on regulatory symptoms and parental co-regulative behavior as well as a clinical interview which was utilized to diagnose ERD and to assess clinically rated regulatory symptoms, quality of parent–infant relationship, organic/biological and psychosocial risks, and social–emotional functioning.Results: The final prediction model identified 11 important variables summing up to the areas maternal self-efficacy, psychological distress (particularly depression and anger-hostility), infant regulatory symptoms (particularly duration of fussing/crying), and age-appropriate physical development. The RMSE (i.e., prediction accuracy) of the final model applied to the test set was 21.72 (R2 = 0.58).Conclusions: This study suggests that among behavioral, environmental, developmental, parent–infant relationship, and mental health variables, a mother's higher self-efficacy, psychological distress symptoms particularly depression and anger symptoms, symptoms in the child particularly fussing/crying symptoms, and age-inappropriate physical development are associated with higher maternal PS. With these factors identified, clinicians may more efficiently assess a mother's PS related to ERD in a low-risk help-seeking sample.

Plasma and Urinary Amino Acid Profile in Children with Infantile Tremor Syndrome.

Infantile Tremor Syndrome (ITS) is a disorder of infancy, and characterized by developmental delay and/or regression, pallor, skin hyperpigmentation and hypopigmented hair. It is commonly seen in infants in whom exclusive breastfeeding is given inappropriately for longer durations than recommended. ITS is predominantly reported from the Indian subcontinent and in children from a lower socioeconomic background. It is a clinical diagnosis and vitamin B12 deficiency is the most commonly accepted etiology of this entity. The primary objectives of study were to compare the plasma and urine amino acid levels among children with ITS spectrum with those of healthy children. The secondary objectives were to compare the plasma and urine amino acid levels among children with ITS and Pre-ITS. This cross-sectional, observational study was carried out at a tertiary care hospital in North India. A total of 50 children aged < 36 months with ITS/Pre-ITS were enrolled. Children with Pre-ITS and ITS were compared with healthy age-matched study subjects. Thirty-nine (78%) cases and twelve (24%) healthy children had low serum vitamin B12 levels. Folate levels were normal in all the controls, while only one case had folate deficiency. There were significant differences (p < 0.05) in the values of 32 amino acids in plasma. Among 44 urinary amino acids, levels of 30 amino acids were significantly different in the cases compared with the controls (p < 0.05). Several changes in amino acids in the children suffering from ITS were observed. These changes may be a reflection of the metabolic derangements in ITS.

The Unrecognized Mortality Burden of Genetic Disorders in Infancy.

Objectives. To determine how deaths of infants with genetic diagnoses are described in national mortality statistics. Methods. We present a retrospective cohort study of mortality data, obtained from the National Death Index (NDI), and clinical data for 517 infants born from 2011 to 2017 who died before 1 year of age in the United States. Results. Although 115 of 517 deceased infants (22%) had a confirmed diagnosis of a genetic disorder, only 61 of 115 deaths (53%) were attributed to International Classification of Diseases, 10th Revision codes representing congenital anomalies or genetic disorders (Q00-Q99) as the underlying cause of death because of inconsistencies in death reporting. Infants with genetic diagnoses whose underlying causes of death were coded as Q00-Q99 were more likely to have chromosomal disorders than monogenic conditions (43/61 [70%] vs 18/61 [30%]; P < .001), which reflects the need for improved accounting for monogenic disorders in mortality statistics. Conclusions. Genetic disorders, although a leading cause of infant mortality, are not accurately captured by vital statistics. Public Health Implications. Expanded access to genetic testing and further clarity in death reporting are needed to describe properly the contribution of genetic disorders to infant mortality.

Upregulation of neuropeptides and obstructive airway disorder in infancy: A review with focus on post-RSV wheezing and NEHI.

Obstructive airway disorders, common in infancy and early childhood, include some entities that are recognized to have neuro immune mediators as their underlying pathogenetic mechanisms. The best characterized example amongst post-viral wheezing phenotypes is the disorder that follows respiratory syncytial virus (RSV) infection and leads to intermittent, long-term wheezing. The underlying mechanisms of the airway reactivity related to RSV infection have been extensively studies and are associated with dysregulation of the nonadrenergic-noncholinergic (NANC) system, via upregulation of neurotransmitters, typically Substance P. Neuroendocrine hyperplasia of infancy (NEHI), while a less common entity, is a disorder characterized by more severe and long-term obstructive airway disease. NEHI is pathophysiologically characterized by abundance of neuroendocrine cells in the airways containing the neuroimmune mediator bombesin, the release of which is presumed to be the driver of the persistent small airway obstruction and functional air-trapping. Here we review the NANC and neuroendocrine cells, the neurotransmitter systems and their studied roles in pulmonary diseases with a focus on their role in lung development, and subsequent various pediatric lung diseases. We focus on the juxtaposition of the separate neuroimmune mechanisms underlying the pathogenesis of post-RSV recurrent wheezing and NEHI's persistent small airway obstruction. We finally propose a unifying concept of neuropeptides in obstructive disorders that may encompass these two entities and possibly others.