Findings In Infancy Research Articles

Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant

Short stature or shortening of the limbs can be the result of a variety of genetic variants. Achondroplasia is the most common cause of disproportionate short stature and is caused by pathogenic variants in the fibroblast growth factor receptor 3 gene (FGFR3).Short stature homeobox (SHOX) deficiency is caused by loss or defects of the SHOX gene or its enhancer region. It is associated with a spectrum of phenotypes ranging from normal stature to Léri-Weill dyschondrosteosis characterized by mesomelia and short stature or the more severe Langer mesomelic dysplasia in case of biallelic SHOX deficiency.Little is known about the interactions and phenotypic consequences of achondroplasia in combination with SHOX deficiency, as the literature on this subject is scarce, and no genetically confirmed clinical reports exist. We present the clinical findings in an infant girl with concurrent achondroplasia and SHOX deficiency. We conclude that the clinical findings in infancy are phenotypically compatible with achondroplasia, with no features of the SHOX deficiency evident. This may change over time, as some features of SHOX deficiency only become evident later in life.

Frequency of Lymphopenia in Infants with COVID-19: Vaccination Dilemma

Abstract Objective Although coronavirus disease 2019 (COVID-19) is mainly a respiratory system disease, many hematological abnormalities have been reported. Due to the application of primary immunization in infancy, our study aimed to examine the relationship between lymphopenia frequency and duration of lymphopenia in infants with COVID-19. Methods The files of infants hospitalized with the diagnosis of COVID-19 in the Pediatric Pandemic Service of Istanbul Medical Faculty between January 2020 and October 2022 were evaluated retrospectively. Demographic characteristics, leukocyte, lymphocyte count, comorbidity, hospitalization, and lymphopenia recovery time were recorded. Results In this study, 93 infants with COVID-19 were included. Lymphopenia was detected in 62 of these patients (n = 62/93, 66.7%). The 47.3% of the patients were female (n = 44) and the mean age was 6 ± 3.42 months. Comorbidities were detected in the 33% of the patients. Lymphopenia resolved in an average of 11 days. While the mean hospitalization period of patients with lymphopenia was 3.6 ± 2.9 (minimum: 1 and maximum: 15) days, the mean hospitalization period of patients without lymphopenia was 2.5 days. Leukopenia (p: 0.014) and lymphopenia (p: 0.005) were more common in infants with chronic disease. Similarly, the duration of hospitalization and recovery from lymphopenia were statistically significantly longer (p: 0.016). A statistically significant correlation was found between the duration of lymphopenia recovery and the duration of hospitalization (p: 0.001). Conclusion Although we found lymphopenia as a common finding in infancy in our study, it was not observed frequently enough to require the postponement of the vaccination program due to its short duration. Vaccination should not be delayed due to lymphopenia in infants with COVID-19 to avoid a missed opportunity for vaccination.

BENIGN ENLARGEMENT OF SUBARACHNOID SPACES IN INFANTS

Benign enlargement of subarachnoid spaces (BESS) constitutes is one of the most frequent neurosonographic findings in infancy and is considered to regress spontaneously by the age of 2 years. Although the majority of children with BESS demonstrate normal developmental milestones, some patients may experience a transient psychomotor delay under the age of 2 year. Besides clinical andneuroimaging findings, the long-term impact of BESS is of great interest (learning difficulties at school, language delay, impairmentsin social-cognitive abilities, reduced quality of life, decreased attention skills and poor visual-motor performance, increased risk ofautism spectrum disorders as well as a higher incidence of epilepsy). It is considered that the risk of long-term consequences may be associated with pathogenetic features of dilation of extra-axial cerebrospinal fluid spaces. In this review, we describe potentialpathogenetic mechanisms of dilatation of the subarachnoid space and its pathological sequelae in children. Generally, numerous pathogenetic hypotheses about developing BESS have been proposed as follows: remarkable physiological imbalance between the skull and brain growth in infants aged from three months to one year; manifestation of cerebral trophy; communicating hydrocephalus due to a distal block with a valve mechanism; a delay in maturation of arachnoid villi/granulations until two years of age; the result of abusive head trauma in infants. However, the hypothesis about pathological consequences of BESS in the long run due to abnormalvenous hemodynamics has emerged in recent years. Impaired venous outflow is the main driving factor of subarachnomegaly and the more severe pathological changes the more significant symptoms of subarachnomegaly. We also highlight the role of impaired cerebralvenous circulation in the development of subarachnomegaly. Further studies are needed to investigate the clinical relevance of chronic increased intracranial pressure due to venous outflow disturbance in infants with enlarged subarachnoid spaces.Тhe subject for future research should be to determine a diagnostic algorithm to help distinguish patients with BESS from those who are at risk of impairedneurological development and require additional diagnostic and therapeutic interventions.

Neuroimaging of structural and functional connectivity in preterm infants with intraventricular hemorrhage

Preterm infants with intraventricular hemorrhage (IVH) are known to have some of the worst neurodevelopmental outcomes in all of neonatal medicine, with a growing body of evidence relating these outcomes to underlying disruptions in brain structure and function. This review begins by summarizing state-of-the-art neuroimaging techniques delineating structural and functional connectivity (diffusion and resting state functional MRI) and their application in infants with IVH, including unique technical challenges and emerging methods. We then review studies of altered structural and functional connectivity, highlighting the role of IVH severity and location. We subsequently detail investigations linking structural and functional findings in infancy to later outcomes in early childhood. We conclude with future directions including methodologic considerations for prospective and potentially interventional studies designed to mitigate disruptions to underlying structural and functional connections and improve neurodevelopmental outcomes in this high-risk population.

The demanding world of emotion: A Gestalt approach to emotion experience

Psychology is biased towards thinking of emotions as feelings rather than as an experiences of the world. But they are both. World-focused emotion experiences (WFEE) are how the world appears or is consciously perceived in one's emotion experience. For example, when happy the world may seem welcoming, or when sad the world may seem barren of possibilities. What explains these experiences? This article discusses explanations of WFEE from phenomenology and Gestalt psychology. Influenced by Lewin, I propose an “emotional demand model” of WFEE. The emotional demand character of objects (e.g. bear-to-be-run-from) is distinguished from their expressive character (e.g. angry bear). It is a mistake to think of emotion faces only as expressions—they are also demands. This distinction explains some anomalous findings in infancy and autism research. The model highlights another tool for recognizing our own emotions: noticing when we feel “demanded of” by the world, with implications for emotion regulation.

ManyBabies1: Infants' preference for infant-directed speech

There is growing concern about the replicability of basic findings in psychology, including in infancy research (Frank et al., 2017). ManyBabies is a large-scale international collaboration to replicate basic empirical findings in infancy. Our first project is ManyBabies1, which examines infant preference for infant-directed speech (IDS). Over 70 laboratories collaborated to collect data from over 2500 infants aged 3–15 months. Stimuli consisted of speech produced in a semi-naturalistic elicitation task where fifteen different mothers who spoke North American English talked about a series of novel and familiar objects to their infant and separately to an experimenter. A set of 8 passages each in IDS and adult-directed speech (ADS) were created after a comprehensive norming process. Infants were tested in 3 primary methods: eyetracking, central fixation and headturn preference. Overall, the effect of preference for IDS was replicated, although the calculated effect was smaller than that reported by meta-analysis (Dunst et al., 2012, metalab.stanford.edu). Preference for IDS increased across development. The success of this project shows that infant research conducted collaboratively and at-scale can answer new questions about the replicability and generalizability of infant findings across different laboratory, methodological, and infant participant characteristics.

10-year follow-up of congenital cytomegalovirus infection complicated with severe neurological findings in infancy: a case report

BackgroundCongenital cytomegalovirus (cCMV) infection leads to sensorineural hearing loss (SNHL) and neurodevelopmental delays. However, the long-term outcomes of cCMV infection with severe neurological manifestations in infancy remain unclear.Case presentationThe patient was a one-month-old girl visited owing to abnormalities in neonatal hearing screening. Central nervous system involvement including intracranial calcification and extensive white matter abnormalities was identified. Right SNHL (50 dB) was detected by auditory brain response (ABR) testing. The cause of her hearing loss was determined to be cCMV infection by polymerase chain reaction (PCR) using a dried blood spot. At 1.5 months of age, the patient was treated with intravenous ganciclovir (GCV) for 5 weeks followed by oral valganciclovir (VGCV) for an additional 6 weeks. Cytomegalovirus (CMV) loads in her urine continued to be detected until she was 10 years old. Fortunately, during this time, her right hearing loss did not deteriorate, and her left hearing remained normal. Furthermore, the extensive abnormal areas of white matter observed at 1 month of age mostly disappeared by the time the patient was 9 years old. Her neurodevelopmental score was normal, and motor milestones were not delayed as of 10 years of age.ConclusionsHere, we report the 10-year follow-up of a patient with cCMV who showed normal neurodevelopment, no progression of hearing loss, and ameliorating magnetic resonance imaging (MRI) findings, despite having various complications and severe neurological findings during infancy.

Inguinoscrotal and inguinolabial swelling in infancy: Role of ultrasound

ObjectivesInguinoscrotal and inguinolabial swellings are common findings in infancy. In this study, color Doppler ultrasonography was used to identify the different etiologies of inguinoscrotal and inguinolabial swelling, thus helping to decide on the optimal management. Patients and methods150 infants with a history of intermittent swelling or presenting with a palpable swelling in the inguinoscrotal or inguinolabial region were included in the study. All patients were subjected to color Doppler ultrasound examination in supine position. ResultsOut of 135 male infants with inguinoscrotal swelling 119 were found to have chronic, 16 acute and 14 bilateral swelling. Out of 15 female infants, 12 were found to have chronic and 3 acute inguinolabial swelling. ConclusionColor Doppler ultrasonography is an accurate, safe and readily available imaging modality which can be used to identify different etiologies of inguinoscrotal and inguinolabial swelling in infants.

PET in Infancy Predicts Long-Term Outcome during Adolescence in Cryptogenic West Syndrome

Developmental and seizure outcomes in patients with cryptogenic West syndrome are variable. Our aim was to clarify the relationship between FDG-PET findings in infancy and long-term seizure and developmental outcome in cryptogenic West syndrome. From 1991 to 1999, we prospectively performed FDG-PET from the onset of cryptogenic West syndrome in 27 patients. PET was performed at onset and at 10 months of age. In 2012, we evaluated the educational status, psychomotor development, and seizure outcome in 23 of the 27 patients (13-22 years of age). The correlation between PET findings and outcome was evaluated. At onset, PET showed hypometabolism in 13 patients (57%). The second PET after the initial treatment revealed cortical hypometabolism in 7 patients (30%). While hypometabolism at onset disappeared on the second PET in 9 patients, it was newly revealed in 3 patients on the second PET. In 2012, seven patients had persistent or recurrent seizures. Eight patients had intellectual impairment. The first PET did not correlate with seizure or developmental outcome. Five of 7 patients (71%) with hypometabolism seen on the second PET had persistent or recurrent seizures, while 14 of 16 (88%) patients with normal findings on the second PET were free of seizures. Five of 7 patients (71%) showing hypometabolism on the second PET had intellectual impairment. Thirteen of 16 (81%) patients with normal findings on the second PET showed normal intelligence. A significant correlation was found between the second PET and long-term seizure (P = .01) or developmental outcome (P = .03). Cortical hypometabolism is not permanent; it changes with clinical symptoms. Hypometabolism after initial treatment predicts long-term seizures and poor developmental outcome.

Epidermolysis Bullosa Simplex with Mottled Pigmentation Due to a Rare Keratin 5 Mutation: Cutaneous Findings in Infancy

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is an autosomal dominant inherited blistering skin disease characterized by nonscarring blistering and reticulated hyperpigmentation. It is most commonly due to a heterozygous point mutation, P25L, in the nonhelical V1 domain of keratin 5 (KRT5). Here we present a case of EBS-MP with early onset of reticulated hyperpigmentation during infancy due to a rare 1649delG mutation in the V2 domain of KRT5.

Prognosis of EEG Findings in Infancy

To determine how specific early EEG abnormalities correlate with clinical outcome on long-term follow-up for neurological and epilepsy outcomes. Our aim was to revisit how early EEG abnormalities should be weighed for prognosis. This is a retrospective study of 358 infants who had EEGs taken between 3 and 12 months of age and subsequent clinical assessment between 4 to 18 years of age. Of the 358 infants, 215 had unfavorable neurological outcome (UNO), and 234 had epilepsy on follow-up. Breakdown: 117 had major abnormal EEG background of which 86% had UNO and 75% had epilepsy. One hundred had abnormal sleep potentials of which 89% had UNO and 80% had epilepsy. One hundred seventy-five had interictal epileptiform activity of which 80% had UNO and epilepsy. Sixty had ictal epileptiform activity of which 90% had UNO and 86% had epilepsy. One hundred ninety-two had markedly abnormal overall EEG impression of which 80% had UNO and 79% had epilepsy. Occurrence of significant EEG abnormalities in the first year was clearly associated with UNO and epilepsy. Current views that certain EEG abnormalities (e.g., interictal spike) may have little prognostic significance would need to be revisited.

Does lenticulostriate vasculopathy predipose to ischemic brain infarct? A case report

Lenticulostriate vasculopathy (LSV) is a sonographic finding in infancy with obscure etiology and variable diagnostic and prognostic significance. Ischemic infarct in the territory of the lenticulostriate vessels after mild head trauma is a rare pathology. There are no publications on LSV followed by ischemic infarct. We present the case of an 8-month-old boy who suffered mild head trauma and developed an ischemic brain infarct in the territory of preexisting LSV. It is speculated that LSV might be a predisposing factor for ischemic brain infarct after mild head trauma in infants.

Index of Suspicion

Index of Suspicion

Psychiatric conditions associated with prenatal alcohol exposure

Since the identification of fetal alcohol syndrome (FAS) over 35 years ago, mounting evidence about the impact of maternal alcohol consumption during pregnancy has prompted increased attention to the link between prenatal alcohol exposure (PAE) and a constellation of developmental disabilities that are characterized by physical, cognitive, and behavioral impairments. These disabilities include a continuum of developmental disorders known as fetal alcohol spectrum disorders (FASDs). Longitudinal studies suggest that individuals with FASDs are at a greatly increased risk for adverse long-term outcomes, including mental health problems and poor social adjustment. This review summarizes the existing literature on mental health outcomes for individuals with PAE across the lifespan, including findings in infancy and early childhood, middle childhood, and adolescence and early adulthood. Research on the psychiatric disabilities suffered by individuals with FASDs throughout development highlights the need for training of mental health professionals in the identification and the provision of specific treatments to address the unique features of this developmental disability since early identification and treatment have been demonstrated to be protective against more serious secondary disabilities. It is hoped that with greater awareness of the mental health problems experienced by individuals with FASDs, these individuals can receive appropriate and early treatment resulting in more adaptive and rewarding lives.

Prenatal cocaine exposures and dose-related cocaine effects on infant tone and behavior

Background In experimental models, prenatal cocaine exposure has been found to perturb monoaminergic development. In humans, numerous studies have sought clinical correlates, but few have focused on dose-related effects, especially as regards neurologic function beyond the neonatal period. Objective To assess whether prenatal cocaine exposure has adverse effects on infant neurologic, developmental and behavioral outcomes and whether any effects are dose-dependent. Design/Methods Infants (398) were enrolled at birth from an urban hospital. Drug exposure was ascertained with biomarkers in hair ( n = 395), urine ( n = 170) and meconium ( n = 109). Children were followed prospectively and 286 (72%) were evaluated blind to drug exposure at 6 months of age with the Bayley scales, Fagan Scale of Infant Intelligence and a standardized neurological examination. Results Certain neurological findings increased significantly by the amount of cocaine detected in maternal hair, e.g. abnormality of tone, as indicated by extensor posture was detected among 28% of cocaine-unexposed infants, 43% of infants exposed to lower and 48% exposed to higher cocaine levels in maternal hair ( p < 0.009). Persistent fisting increased in a similar dose-dependent manner. These associations persisted in adjusted analyses. Prenatal cocaine exposure was not associated with developmental scores (mental, motor or novelty preference) but was associated with lower orientation scores in adjusted analyses. Conclusions At 6 months of age, prenatal cocaine exposure was associated with abnormalities of tone and posture and with lower orientation scores. Perturbations in monoaminergic systems by cocaine exposure during fetal development may explain the observed neurological and behavioral symptoms. Whether such findings in infancy increase the risk of later neurobehavioral problems requires further study.

Idiopathic macrocephaly in the infant: long-term neurological and neuropsychological outcome

The long-term outcome of idiopathic macrocephaly is presently unknown. In the current study (n=15), MRI conducted at long-term review showed regression of orbito-frontal extradural collections and normal or slightly enlarged ventricular space compared to infant examination. Head circumference had normalised in all but one participant. Neuropsychological assessments of nine participants showed general intellectual ability within the normal range in the majority of participants; however, specific deficits in attention were evident. Clinical interviews conducted with a smaller sub-group revealed anecdotal histories of behavioural difficulties and reading or arithmetic difficulties in half of the total sample. Prospective review studies such as this indicate that abnormal radiological findings in infancy are not necessarily predictive of neurodevelopmental problems and may reflect a normal variant. However, while overall intellectual ability may be within average limits in this diagnostic sample, considerable individual variations remain in specific areas of neuropsychological function.

Treatment of extrahepatic bile duct disease in infancy and early childhood

Extrahepatic bile duct disease is a rare finding in infancy and early childhood. However, there is an increasing number of patients operated at this age reported in the literature. This increase ma...

Treatment of extrahepatic bile duct disease in infancy and early childhood

Extrahepatic bile duct disease is a rare finding in infancy and early childhood. However, there is an increasing number of patients operated at this age reported in the literature. This increase may have multifactorial reasons, e.g. real increase, better ability of detection as a result of better diagnostic techniques and knowledge of predisposing factors of extrahepatic bile duct disease in childhood, especially in early childhood and infancy. The following report describes three cases of extrahepatic bile duct disease in infancy and early childhood treated at the Department of Surgery of the University of Technology in Aachen, Germany. From 1986 to 1998 28 Patients below 18 years were operated at our Department of Surgery. There was a recognizable increase of patients in 1996, 1997 and 1998. Whereas from 1986 to 1995 an average of 1.5 Cholecystectomies in pediatric patients were done, the years from 1996 to 1998 show an average of 5,33 patients operated per year. Every patient obtained a Cholecystectomy -- 15 conventional open Cholecystectomies and 13 Laparoscopies, which were primarily performed in children in our clinic in 1991. Besides cholecystectomy in one case a Hepaticoenterostomy was necessary and in another case surgical treatment of the Papilla of Vater and the Common Bile Duct was performed. In 22 patients symptomatic Cholelithiasis was the indication for a Cholecystectomy. Another Patient had a gallbladder polyp consisting of heterotopic Duodenal glands, two patients showed a shock gallbladder following trauma and cardiac operation and three patients had chronic Cholecystitis without gallstones. Clinical data was collected and retrospectively reviewed. Additionally, we created a personal questionnaire to carry through a follow-up. Three Patients were less than 3 1/2 years old. The youngest patient was only 5 months old and presented with Cholelithiasis and Choledocholithiasis. Another male patient, aged 2 years received a Cholecystectomy and a Hepaticoenterostomy because of a Choledochal Cyst Type Ib (Todani-Classification). And a 3-year-old-girl had a shock gallbladder caused by thromboembolism following cardiac operation nine days before.

Cranial magnetic resonance imaging in lowe's syndrome

The oculocerebrorenal syndrome of Lowe is a rare, X-linked recessive disorder originally described by Lowe et al. in 1952 (1). Ocular manifestations include congenital cataracts and glaucoma. Renal involvement is manifested by renal tubular acidosis, hypophosphatemic rickets and organic aciduria, similar to Fanconi syndrome, with later development of glomerular dysfunction and uremia. Severe developmental delay, profound mental retardation, hypotonia, absent deep tendon reflexes, and a high-pitched scream represent the neurological changes. Skeletal abnormalities include rachitic changes and patients develop a symmetric arthropathy of both small and large joints. Death usually occurs in the first or second decade, secondary to pneumonia or uremia. Magnetic resonance imaging (MRI) of the brain in Lowe’s syndrome has been reported by few authors (3-6) and only one case reported of MRI findings in infancy (4). We present our findings in a 18-month-old patient with Lowe’s syndrome.

Developmental changes in separation anxiety in childhood

Abstract Eighty children, 20 boys and girls at each of four age levels (3–4, 7–8, 10–11 and 14–15 years), responded to a Pictorial Experimental Paradigm (PEP) derived from Spielberger's STAIC, involving the rating of the intensity of three positive and three negative adjectives when considering separation from the caretaker in two types of situations: “left-with-a-sitter” where parting is “mitigated” by adult companionship, and “left-alone” where separation is “unmitigated”. Item reliability and specificity for separation anxiety are described in terms of Cronbach's alpha, intercorrelations and comparisons with ratings obtained from a parallel PEP dealing with death anxiety on the same sample. Performance on the separation PEP indicated clear developmental trends; the decrease with age of intensity ratings was significant. A trend analysis showed that 77% of the age variance could be explained by a linear component. Against a background of findings in infancy of higher intensity levels of separation anxie...