Weak Sucking Research Articles

LEUCINOSIS IN THE PRACTICE OF A NEONATOLOGIST (clinical case)

Background. Leucinosis ("maple syrup urine disease ") is a hereditary disease with an autosomal recessive type of inheritance, the basis of which is a violation of the metabolism of organic amino acids. The disease is characterized by the development of a life-threatening condition, accompanied by developmental delay, suppression of neuro-reflex excitability, a specific smell of urine (the smell of "maple syrup"), ketoacidosis, hypoglycemia. There are five clinical phenotypes of leucinosis: classic, intermediate, intermittent, E3-deficient, and thiamine-sensitive. Aim: To expand the knowledge of pediatricians and neonatologists regarding the clinical and paraclinical features of the course of leucinosis. Materials and methods. The article presents a clinical case of clinical-paraclinical and molecular-genetic features of the course of leucinosis with manifestation in the neonatal period. Description of a clinical case. Boy I., from the third pregnancy, which occurred against the background of anemia of the 1st century and chronic pyelonephritis. The first pregnancy ended with the birth of a boy who died at the age of 2 months due to the manifestations of neonatal dehydration and convulsive syndrome (14 years ago); second pregnancy - miscarriage at 6 weeks of pregnancy. From the 5th day of life, the child's restlessness, refusal to eat, weak sucking and weight loss were noted. During the 7-8th day of life, the child had an expiratory moan. On the 9th day, tonic convulsions appeared. During the stay at the NICU, a positive result of neonatal screening for leucine was obtained twice. According to the results of the conducted molecular genetic research, a mutation of the BCKDHA gene, namely the variant c.632C>T (p.Thr 211 Met) was found in a homozygous state, which confirmed the diagnosis of type Ia leucinosis. Conclusion. The presented clinical case demonstrates that leucinosis is a disease that manifests non-specific and multisystem lesions, is difficult to diagnose and, in the case of untimely started specific treatment, rapidly progresses in the neonatal age and can lead to the development of metabolic decompensation and end in death.

Un caso di botulismo infantile

A 6-month-old infant had been presenting with weak sucking and reduced spontaneous limb movements for a week. He had constipation problems for 4 days followed by hard stool. Upon admission, blood tests including metabolic screening and instrumental investigations were performed. Upon further inquiry into the family history, it was discovered that the father works as a mason. Due to suspicion of infant botulism, the Poison Control Center Unit of Pavia was contacted, and a faecal sample was sent to the Brescia Zooprophylactic Institute, which tested positive for Clostridium bacteria that produce botulinum toxin subtype B. The infant did not require respiratory or nutritional support. Antitoxin therapy was not initiated, and the infant was discharged upon negative test results. Botulism is a neuroparalytic disease characterized by acute symmetric descending flaccid paralysis caused by neurotoxin. The pathogenetic mechanism involves the botulinum toxin inhibiting the formation of the SNARE complex, crucial for the release of neurotransmitters at the neuromuscular junction.

MENKES DISEASE: A LITERATURE REVIEW AND CLINICAL CASE

Menkes Kinky Hair Disease (MKHD) is characterized by an abnormality in copper metabolism caused by a mutation in the ATP7A gene, which is located on Xq13.3 and has 23 exons. In addition, this gene encodes 1500 amino acids and is expressed in large quantities in various organs. It’s worth mentioning that about 357 diff erent mutations have been identifi ed in the ATP7A gene. It is a relatively rare disease with an incidence of 1 case per 100,000 to 250,000 live births. MKHD is an X-linked recessive trait that almost exclusively aff ects boys.The diagnosis of this rare disease is based on the genetic- molecular study of a metabolic disease panel, including the ATP7A gene and the biochemical phenotype (a decrease in serum copper and ceruloplasmin levels).In developing therapeutic strategies for individuals with Menkes disease, three fundamental problems are being addressed: 1) unlocking the absorption of copper in the intestine; 2) making copper available to enzymes in cells that require it as a cofactor; and 3) identifying infants with Menkes disease and initiating treatment at a very early stage of life, before irreversible neurodegeneration occurs. This article presents a clinical case of Menkes disease in a 7-month-old boy. The diagnosis was confi rmed by molecular genetic testing (NGS) of the Neurometabolic Disorders Panel, which included the ATP7A gene and biochemical phenotype. The described case illustrates the complexity of diagnosing Menkes disease in the neonatal period due to the non-specifi city of disease symptoms (lethargy, weak sucking, weight loss, etc.) and the importance of biochemical and molecular genetic methods of fetal investigation in subsequent pregnancies or in a newborn sibling for early diagnosis and treatment. This case will be published with the consent of the mother in accordance with bioethical principles.

Cold Sensitivity of Field-Grown Allocasuarina and Casuarina Tree Species

The sheoak genera, Allocasuarina and Casuarina, contain a diverse range of Australian trees and shrubs of both ecological and economic importance. Although they are well known for tolerance to stressors such as drought, salinity and high temperatures, their tolerance to freezing has not been adequately examined. Some data has been published on the cold sensitivity of Casuarina cunninghamiana but other Casuarina spp. and no Allocasuarina sp. have been assessed. This study examined growth and survival of field-established Allocasuarina (2 species) and Casuarina (4 species) in Central Anatolia, Turkey with winter temperatures dropping to −15°C. Following establishment in May 2020, the accessions tested (100 plants in total) mostly grew well during summer and autumn in this semi-arid climate with mildly alkaline soil, but the shoots of all plants were killed by the extreme cold of winter, with only seven plants producing weak root sucking in the summer of 2021, which all subsequently died. Although both genera appear to be cold sensitive, the results indicate the merit for wider evaluation of sheoaks in other contexts with harsh environments but not in regions exposed to periods (even if relatively short) of subzero temperatures.

The Effect of Pre-Feeding Oral Stimulation on The Sucking Ability of LBW Babies in The NICU Room

Introduction: The inability to drink in LBW is caused by weak sucking muscle ability and unstable oral ability and swallowing and breathing on LBW babies influenced by maturity of the structure of the brain and cranial nerves. The LBW babies taken care does not suck directly on the mother's breast, this is because the mother and baby are taken care for separately. Objective: To analyze the effect of Pre-Feeding Oral Stimulation on the sucking ability of LBW Babies in the NICU Room at Harapan Insan Sendawar General Hospital. Method: This study used experimental research with one group pre-test and post-test. The population in this study were all LBW infants who were treated in the NICU room. Results and Discussion: The result of research was gained that the average of baby's sucking ability before oral stimulation was 2.67 where the lowest value of sucking ability is 0 and the highest value of sucking ability was 6. The average of baby's sucking ability after oral stimulation is 3.73 where the lowest value of sucking ability was 1 and the highest value of sucking ability was 7. The Statistical test results by conducting Wilcoxon T test were found that the P value was 0.01. So, the p-value (0.01) is smaller than the alpha value (0.05), it means that the null hypothesis is rejected. Conclusion: There is an effect of Pre-Feeding Oral Stimulation on the Sucking Ability of LBW Babies in the NICU Room at Harapan Insan Sendawar General Hospital in the year 2022.

Are early-life lambs’ characteristics and behavioural reactivity related to later survival and growth performance during artificial feeding?

The use of prolific sheep breeds often leads farmers to rear some lambs with an automatic milk feeder to improve survival and growth. However, the success of these challenging situations could depend on lamb’s early individual characteristics, and their behavioural reactivity in a stressful context. The study was performed on 567 Romane lambs. We tested the hypothesis that early-life characteristics, including behaviour and physiology, could predict survival and growth performances until weaning. In addition, on a random subsample of one third of these lambs we assessed whether behavioural reactivity to social isolation and unknown human presence was a further predictor of individual variability in growth rate. Lambs were characterised by birth weight, rectal temperature and scores for vigour, handling and sucking of first bottle milk on arrival at nursing. After three weeks of artificial rearing (i.e. halfway to weaning age), 202 randomly-chosen lambs were studied in a 2-phase test to record their reaction to social isolation in a novel arena test and presence of an unknown human. Test variables were summarised phase-wise by principal component analysis. The factor scores characterised lamb general activity in phase 1 and affinity to humans in phase 2. Data was examined using descriptive statistics, survival analysis and multivariate regression models to identify the key factors for survival and average daily gain (ADG) until weaning. Cumulative early death rate at one week was 5% and global death rate at the end of the rearing period was 11.6%. There was a higher hazard ratio for death for weak sucking at the first milk-bottle test (P = 0.011), low rectal temperature (P < 0.05), and dam age of 4–5 years versus 2–3 years (P < 0.01). A low ADG until weaning was associated with a low vigour score (P < 0.01), weak sucking (P < 0.05) and low birth weight (P < 0.001). Our data also supports the hypothesis of a relationship between growth and behavioural reactivity in artificially-reared lambs. A low growth rate until weaning was also associated with higher lamb affinity shown to humans (P < 0.001) and lower activity expressed in social isolation in a new arena (P < 0.05). Our study suggests that early-age characteristics but also reactivity to social isolation and affinity to humans could be valuable predictors of lamb survival and growth in artificial rearing. Our results possibly reveal an over-dependency on humans in some lambs in such a system.

Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome

To date, the feeding and oral-motor abilities of patients with CHARGE syndrome (CS) have not been longitudinally assessed. This study aims to investigate the level of these abilities at different ages and evaluate how they evolve during growth. We retrospectively analysed oral-motor features of 16 patients with molecularly confirmed CS (age range 4–21 years old; mean 11 years; SD 6 years; median 10 years). Nearly 100% of CS new-borns had weak sucking at birth, and half of them demonstrated poor coordination between breathing and swallowing. Over time, the percentages of children with tube feeding dependence (60% at birth) faced a slow but steady decrease (from 33% at 6 months, 25% at 12 months, to 13% at school age) in tandem with the decreasing risk of aspiration. The ability of eating foods requiring chewing was achieved at school age, after the acquisition of an adequate oral sensory processing. A mature chewing pattern with a variety of food textures was not achieved by more than half of patients, including those requiring artificial enteral nutrition. Most patients started prolonged oral-motor treatments with speech language therapists in early childhood.Conclusions: Although feeding and swallowing disorders are constant features in CS patients, a slow and gradual development of feeding abilities occurs in most cases. Rehabilitation plays a key role in overcoming structural and functional difficulties and attaining appropriate eating skills.What is Known:• Feeding problems and swallowing dysfunction have been noted in CHARGE syndrome.• The involvement of multiple factors, including structural problems in the mouth, throat, or esophagus, and neurological impairment, make feeding a complicated task in CHARGE individuals.What is New:• Dysphagia gradually improves in most CHARGE children over time, though with a wide interindividual variability.• The percentages of children with tube feeding dependence decrease over time from 60% at birth to 33% at 6 months and 13% at school age.

BEDNAR’S APHTHAE IN INFANTS IN DUHOK; A PROSPECTIVE CROSS-SECTIONAL STUDY

Background &#x0D; Bednar’s aphthae are small shallow ulcers at the margin of the palate of newborns. They primarily result from the traumatic action of a bottle teat or the nipple of the mother’s breast during feeding. More recently, an immune process has been hypothesized to explain its pathogenesis.&#x0D; Objectives &#x0D; To study the clinical features, the associated factors, and the time of healing of Bednar’s aphthae in Duhok. &#x0D; Patients and Methods&#x0D; This study was conducted from January 1st, 2020, to February 1st, 2021. It enrolled 17 newborns and infants diagnosed with Bednar’s aphthae through clinical examination while undergoing routine health checkups. Information about sex, delivery mode, age, birth weight, gestational age, perinatal problems, feeding method, feeding habits, type of milk (formula, breast milk, or both), and using a pacifier or not were obtained from mothers through direct interviews. Through the use of a tongue depressor, the palate was visualized. In addition, parents were educated on how to posture the patient while feeding properly. Four weeks later, a follow-up visit was for the ulcers’ course follow-up.&#x0D; Results&#x0D; Male is the predominant gender. Vaginal delivery was the most common. All the participants were full-term with normal birth weights. The age at which diagnosis was made ranged from 14 to 60 days. Most of them were formula-fed. In 15 patients (88.23%), feeding was in a horizontal posture; 11 (64.7%%) had weak sucking, 10(58.82%) had prolonged feeding time, and 13(76.47%) used pacifiers. The location is marginal in 12 cases (70.58%). The shape was oval in 13 patients (76.47%), and the healing time ranged from 1 week to 4 weeks. The largest ulcer was 2x2 cm, and the smallest was 0.2x0.3 cm. &#x0D; Conclusion&#x0D; Bednar’s aphthae are self-limiting disorders in newborns and infants. Mechanical and immunologic factors can be responsible for their pathogenesis. Health education for mothers can help the healing of the ulcers and prevent their recurrence.

Association of Maternal Obesity and Neonatal Hypoxic-Ischemic Encephalopathy.

ObjectiveMore women are obese at their first prenatal visit and then subsequently gain further weight throughout pregnancy than ever before. The impact on the infant’s development of neonatal hypoxic ischemic encephalopathy (HIE) has not been well studied. Using defined physiologic and neurologic criteria, our primary aim was to determine if maternal obesity conferred an additional risk of HIE.Study DesignData from the New York State Perinatal Data System of all singleton, term births in the Northeastern New York region were reviewed using the NIH obesity definition (Body Mass Index (BMI) ≥ 30 kg/m2). Neurologic and physiologic parameters were used to make the diagnosis of HIE. Physiologic criteria included the presence of an acute perinatal event, 10-min Apgar score ≤ 5, and metabolic acidosis. Neurologic factors included hypotonia, abnormal reflexes, absent or weak suck, hyperalert, or irritable state or evidence of clinical seizures. Therapeutic hypothermia was initiated if the infant met HIE criteria when assessed by the medical team. Logistic regression analysis was used to assess the effect of maternal body mass index on the diagnosis of HIE.ResultsIn this large retrospective cohort study we evaluated outcomes of 97,488 pregnancies. Infants born to obese mothers were more likely to require ventilatory assistance and have a lower 5-min Apgar score. After adjusting for type of delivery and maternal risk factors, infants of obese mothers were diagnosed with HIE more frequently than infants of non-obese mothers, OR 1.96 (1.33–2.89) (p = 0.001).ConclusionInfants of obese mothers were significantly more likely to have the diagnosis of HIE.

Feeding Intolerance in a 3-month-old.

Feeding Intolerance in a 3-month-old.

Congenital immobility and stiffness related to biallelic ATAD1 variants.

ObjectiveTo delineate the phenotype associated with biallelic ATAD1 variants.MethodsWe describe 2 new patients with ATAD1-related disorder diagnosed by whole-exome sequencing and compare their phenotype to 6 previous patients.ResultsPatients 1 and 2 had a similar distinctive phenotype comprising congenital stiffness of limbs, absent spontaneous movements, weak sucking, and hypoventilation. Both had absent brainstem evoked auditory responses (BEARs). Patient 1 carried the homozygous p.(His357Argfs*15) variant in ATAD1. In the light of the finding in patient 1, a second reading of exome data for patient 2 revealed the novel homozygous p.(Gly128Val) variant.ConclusionsAnalysis of the phenotypes of these 2 patients and of the 6 previous cases showed that biallelic ATAD1 mutations are responsible for a unique congenital encephalopathy likely comprising absent BEAR, different from hyperekplexia and other conditions with neonatal hypertonia.

Thickener Is Not the Answer in the NICU

Thickener Is Not the Answer in the NICU

Prevalence and Predictors of Persistent Speech Sound Disorder at Eight Years Old: Findings From a Population Cohort Study.

PurposeThe purpose of this study was to determine prevalence and predictors of persistent speech sound disorder (SSD) in children aged 8 years after disregarding children presenting solely with common clinical distortions (i.e., residual errors).MethodData from the Avon Longitudinal Study of Parents and Children (Boyd et al., 2012) were used. Children were classified as having persistent SSD on the basis of percentage of consonants correct measures from connected speech samples. Multivariable logistic regression analyses were performed to identify predictors.ResultsThe estimated prevalence of persistent SSD was 3.6%. Children with persistent SSD were more likely to be boys and from families who were not homeowners. Early childhood predictors identified as important were weak sucking at 4 weeks, not often combining words at 24 months, limited use of word morphology at 38 months, and being unintelligible to strangers at age 38 months. School-age predictors identified as important were maternal report of difficulty pronouncing certain sounds and hearing impairment at age 7 years, tympanostomy tube insertion at any age up to 8 years, and a history of suspected coordination problems. The contribution of these findings to our understanding of risk factors for persistent SSD and the nature of the condition is considered.ConclusionVariables identified as predictive of persistent SSD suggest that factors across motor, cognitive, and linguistic processes may place a child at risk.

Cyanosis As a Signal of Perinatal Stroke: Findings at Ultrasound and MRI.

Cyanosis As a Signal of Perinatal Stroke: Findings at Ultrasound and MRI.

Mothers say "baby" and their newborns do not choose to listen: a behavioral preference study to compare with ERP results.

Previously published results from neonatal brain evoked response potential (ERP) experiments revealed different brain responses to the single word “baby” depending on whether it was recorded by the mother or an unfamiliar female. These results are consistent with behavioral preference studies in which infants altered pacifier sucking to contingently activate recordings of the maternal vs. an unfamiliar female voice, but the speech samples were much longer and information-rich than in the ERP studies. Both types of neonatal voice recognition studies imply postnatal retention of prenatal learning. The preference studies require infant motor and motivation systems to mount a response in addition to voice recognition. The current contingent sucking preference study was designed to test neonatal motivation to alter behavior when the reward is the single word “baby” recorded by the mother or an unfamiliar speaker. Results showed an absent or weak contingent sucking response to the brief maternal voice sample, and they demonstrate the complementary value of electrophysiological and behavioral studies for very early development. Neonates can apparently recognize the maternal voice in brief recorded sample (previous ERP results) but they are not sufficiently motivated by it to alter sucking behavior.

BREAST FEEDING SUPPORT IN PREMATURE INFANTS: PROBLEMS AND SOLUTIONS

научный биометрический журнал, который знакомит читателя с клиническими рекомендациями и особенностями применения лекарственных и вакцинных средств у детей, предоставляет исчерпывающую информацию о воздействии лекарственных средств на плод, о проводимых в

Feeding the feeble: steps towards nourishing preterm infants

This paper describes historic steps in feeding techniques and knowledge on the nutritional needs of premature infants. Devices to overcome weak sucking and swallowing were developed from 1851 to 1920, including tube feeding by gavage, medicine droppers and pipettes, feeding bottles with an air inlet, and beaked spoons for nasal feeding. Indwelling nastrogastric tubes were in use from 1951. For alleged safety concerns in the 1950s, postnatal feeding was postponed until a week of starvation was reached, and studies showed an association with neurological handicaps. The premature infant's elevated need for energy, protein, and minerals has been established since 1919. However, these remained controversial, and nutritional practices continued to lag behind theoretical knowledge. Concentrated formula was developed in the 1940s, parenteral supplementation in the 1960s, and human milk fortifiers in the 1970s. In the 1990s, necrotizing enterocolitis was found to be more frequent in infants who were fed formula than in those who were fed human milk. Recently, probiotics were shown to reduce the risk of necrotizing enterocolitis. Nevertheless, compared with other aspects of neonatal medicine, there is still remarkably little evidence on how to feed preterm infants.

Are diet and feeding behaviours associated with the onset of and recovery from slow weight gain in early infancy?

Infants with slow weight gain cause concern in parents and professionals, but it is difficult to be certain whether such infants are genetically small or whether their energy intake is insufficient. The aim of the present study was to assess the impact of diet and feeding behaviours on slow weight gain early in infancy. The sample was 11499 term infants from the Avon Longitudinal Study of Parents and Children (ALSPAC). A total of 507 cases of slow weight gain from birth to 8 weeks were identified and the remaining 10992 infants were used as controls. It was found that infants who gained weight slowly between birth and 8 weeks were more likely to exhibit feeding problems such as weak sucking and slow feeding during this period. Feeding problems were substantially reduced during the recovery phase (8 weeks to 2 years) when these infants exhibited enhanced catch-up in weight. The proportion of mothers breast-feeding in the 4th week after birth was higher for slow weight gainers, but they were more likely to switch to formula at the start of recovery. During recovery, slow-weight gain infants had a slightly higher energy intake from formula and solids than controls. In conclusion, feeding problems seem to be the most important factors associated with the onset of early slow weight gain. Subsequently, a reduction of feeding problems and an increase in overall energy intake may contribute to their weight recovery. Health professionals should look for feeding problems in the first few weeks after birth and help mothers establish adequate feeding practices.

Muscle Disease

On the basis of strong research evidence, Duchenne muscular dystrophy (DMD), the most common severe childhood form of muscular dystrophy, is an X-linked recessive disorder caused by out-of-frame mutations of the dystrophin gene. Thus, it is classified asa dystrophinopathy. The disease onset is before age 5 years. Patients with DMD present with progressive symmetrical limb-girdle muscle weakness and become wheelchair dependent after age 12 years. (2)(3). On the basis of some research evidence,cardiomyopathy and congestive heart failure are usually seen in the late teens in patients with DMD. Progressive scoliosis and respiratory in sufficiency often develop once wheelchair dependency occurs. Respiratory failure and cardiomyopathy are common causes of death, and few survive beyond the third decade of life. (2)(3)(4)(5)(6)(7). On the basis of some research evidence, prednisone at 0.75 mg/kg daily (maximum dose, 40 mg/d) or deflazacort at 0.9 mg/kg daily (maximum dose, 39 mg/d), a derivative of prednisolone (not available in the United States), as a single morning dose is recommended for DMD patients older than 5 years, which may prolong independent walking from a few months to 2 years. (2)(3)(16)(17). Based on some research evidence, treatment with angiotensin-converting enzyme inhibitors, b-blockers, and diuretics has been reported to be beneficial in DMD patients with cardiac abnormalities. (2)(3)(5)(18). Based on expert opinion, children with muscle weakness and increased serum creatine kinase levels may be associated with either genetic or acquired muscle disorders (Tables 1 and 3). (14)(15)

Abstracts and Commentaries on Key Articles in the Literature

Abstracts and Commentaries on Key Articles in the Literature