Dysphagia Research Articles

A new technique: endoscopic transmass odontoidotomy.

Basilar invagination (BI) represents a complex anomaly of the craniovertebral junction, characterized by the displacement of the odontoid process towards the foramen magnum. Current surgical interventions include anterior decompression and combined anterior-posterior decompression with posterior fusion. Traditional methods for odontoid resection encompass transoral, transnasal, and endonasal approaches. However, these techniques are fraught with significant risks. Furthermore, the restricted exposure provided by the endonasal corridor's anatomical limitations hampers surgical manipulation, prompting spine surgeons to seek alternative techniques. This report details a case of BI managed through an endoscopic posterolateral odontoidotomy, showcasing an innovative surgical approach. We aim to describe our experience in partially removing the odontoid via posterolateral approach with a novel endoscopic technique, preventing the need for additional approach and related complications. A 16-year-old male patient presented with complaints of imbalance and difficulty swallowing. Clinical examination revealed upper extremity muscle weakness, ataxic gait, and dysphagia. Upon the diagnosis of BI, a posterior occipito-cervical fusion was performed. However, six months postoperatively, the patient returned with exacerbated symptoms. During the subsequent surgical intervention, the odontoid body was resected using a posterolateral transmass endoscopic approach. Due to the patient's neck and shoulder anatomy, cranial angulation of the endoscope was restricted, necessitating the retention of the odontoid tip. Post-operative CT revealed that the tip was closer to the base and a subarachnoid space was formed. Follow-up CT after a year showed a complete migration of the tip to the base of C2 with a clear decompression of the brainstem. Our findings demonstrate that partial or total resection of the odontoid process via a posterolateral approach is feasible using endoscopic techniques. The endoscopic posterolateral transmass odontoidotomy should be considered a viable alternative method and route for patients necessitating partial or total odontoidectomy.

Observing the flow of porridge: a physical and rheological analysis

Profiling the rheology of foods with millimeter-sized ingredients, provided to sick patients with trouble swallowing, can help improve safety.

Most infants with prenatal Osteogenesis Imperfecta diagnosis and poor prognosis survive: experience of a quaternary care OI Center

Abstract Osteogenesis imperfecta (OI) is a genetic condition with improperly or inadequately produced Type I collagen. Manifestations include bowing deformities, fractures, hydrocephalus, respiratory insufficiency and feeding difficulty. Moderate or severe OI is often diagnosed prenatally based on ultrasound findings and genetic testing may be labeled as lethal. Here we present 18 infants with moderate to severely presenting OI who received neonatal care at a single center over a 5 year period, 10 of which were delivered at our institution. All 18 infants survived to neonatal discharge, with seven infants requiring respiratory support and nine infants requiring feeding support at discharge. Through Fisher Exact Test, Mann Whitney U Test and backward elimination regression, we do not observe that lethal or possibly lethal diagnoses prenatally were correlated with medically relevant outcomes such as need for respiratory support at discharge or need for feeding support at discharge. 16/18 individuals are alive, with a minority requiring either respiratory or feeding support. With a multidisciplinary team approach to neonatal care, outcomes may be optimized. Infants formerly diagnosed with lethal OI may survive. Given our findings, and lack of correlation of prenatal assessments with survival and other medical outcomes, we recommend all families be given the option to pursue medical interventions.

Association of clinical signs of possible serious bacterial infections identified by community health workers with mortality of young infants in South Asia: a prospective, observational cohort study.

The World Health Organization (WHO) has developed guidance for community health workers (CHWs) in identifying sick young infants based on clinical signs. We conducted a prospective, observational cohort study to characterise mortality risk of young infants based on their clinical signs. We conducted a population-based, prospective observational cohort study at five sites in Bangladesh (Sylhet, November 01, 2011-December 31, 2013), India (Vellore and Odisha, September 01, 2013-February 28, 2015), and Pakistan (Karachi, January 01, 2012-December 31, 2013; Matiari, March 01, 2012-December 31, 2013) to identify newborn infants who were followed-up by CHWs through 10 scheduled home visits over the first 60 completed days after birth to identify signs of possible serious bacterial infection (PSBI). We determined the frequency of signs and conducted Cox regression to investigate the association of signs with mortality risk within 7 days of identification of the signs. CHWs made 522,309 visits to assess 63,017 young infants and found ≥1 sign(s) of PSBI at 14,245 visits (2.7%), including 5.8% (5568 of 96,390) and 1.8% (6635 of 365,769) of visits of infants 0-<3 and 7-<60 days of age, respectively. Each of the seven signs of PSBI when found alone was associated with significantly (p<0.0001) increased risk for mortality, which increased further if any other additional sign of PSBI was found concurrently. Over the young infant period (days 0-<60) CHW identification of no movement or movement only on stimulation was associated with the highest risk for mortality [adjusted hazard ratio (aHR) 73.0, 95% confidence interval (CI) 44.4-119.9] followed by poor feeding (aHR 31.9, 95% CI 24.1-42.3) and hypothermia (<35.5 °C) (aHR 31.4, 95% CI 23.5-41.9). Hypothermia had particularly high risk for mortality during days 7-<60 (HR 45.1, 95% CI 27.6-73.4). WHO reconsideration of hypothermia as a sign of critical illness is warranted. Implementation research is urgently needed to reduce infant mortality by ensuring immediate referrals and interventions for children identified early by CHWs with no movement or movement only on stimulation, hypothermia, or poor feeding, especially in resource-poor settings. Bill and Melinda Gates Foundation, New Venture Fund for Global Policy and Advocacy.

Management of Dry Mouth.

Background: Dry mouth, or xerostomia, is a common complaint among older people. Dry mouth can result in a variety of dental complications, oral discomfort, difficulty swallowing and eating, and decreased taste sensation, all of which can adversely affect quality of life. Objective: To provide an overview of the definition, diagnosis, causes, potential complications, and treatment strategies for dry mouth. Data Sources: PubMed, Proquest, Cochrane Library, drug prescribing information, drug information databases, and manufacturers' websites were used. Search terms were "xerostomia," "dry mouth," "hyposalivation," "causes," "treatment," and "pharmacology." The resources identified included clinical practice guidelines, review articles, and original research articles. Data Synthesis: The literature described the causes and treatment strategies for managing xerostomia, including concerns for older adults, and pharmacists' involvement for providing care. Discussion: The most common cause of dry mouth in the general population and in older adults is medication use. Individual medications may cause dry mouth, primarily through anticholinergic side effects. Polypharmacy is also a cause. Other causes are dehydration, alcohol and caffeine intake, and systemic diseases such as Sjögren's disease. If not addressed, individuals experiencing chronic dry mouth are at increased risk for various oral conditions such as dental caries, periodontal disease, and infections. Interventions such as good oral hygiene methods, using saliva substitutes containing xylitol and prescription cholinergic agonists, if appropriate, can reduce symptoms and complications. Conclusion: Pharmacists can play an important role in managing dry mouth by conducting medication reviews, providing patient education for oral health practices, and recommending treatment strategies.

The impact of protein-energy malnutrition on clinical outcomes in hospitalized gastric cancer patients: A population-based analysis.

503 Background: Protein-energy malnutrition (PEM) is considered an adverse prognostic factor in various clinical conditions. Patients with gastric cancer are at an increased risk of malnutrition because of factors such as loss of appetite due to the tumor, difficulty swallowing, malabsorption, and metabolic changes caused by the cancer. However, the implications of protein-energy malnutrition (PEM) in gastric cancer patients are not well studied. Through this study, we wanted to examine how PEM affects clinical outcomes in hospitalized patients with gastric cancer. Methods: We used the National Inpatient Sample (NIS) from 2018 to 2020 to detect patients with a primary diagnosis of gastric cancer and a secondary diagnosis of protein energy malnutrition (PEM). We used the chi-square and student T-test to analyze categorical and continuous variables. Confounders were adjusted using multivariable regression analysis, and the adjusted odds ratio (aOR) was calculated. Results: We detected a total of 1673915 patients with the primary diagnosis of gastric cancer using ICD-10 codes. Of them, 401,739 (24%) of the patients had a secondary diagnosis of PEM. The mean age of the patients was 66 years (p-value &lt;0.01). Of these, 56% of the patients were male, while the remaining 44% were female (p-value &lt;0.001). Based on race, 68% of the patients belonged to the White Race, 12% were African Americans, and 11% were Hispanics (p-value &lt;0.001). It was observed that the presence of PEM was associated with higher mortality (aOR 1.6, p-value &lt;0.001). There was also higher hospitalization cost ($109522 vs. 75725, p-value &lt;0.001) and mean length of stay (LOS) (9.1 days vs. 5.6 days, p-value &lt;0.001). PEM in gastric cancer patients was also associated with higher odds of sepsis (aOR 1.6, p-value &lt;0.001), gastritis (aOR aOR 1.2, p-value &lt;0.001), gastrointestinal (GI) bleeding (aOR 1.1, p-value &lt;0.001) and acute kidney injury (AKI) (aOR 1.7, p-value &lt;0.001). Conclusions: Our study demonstrates that protein-energy malnutrition (PEM) is associated with increased mortality, higher hospitalization costs, and longer stays in hospitalized gastric cancer patients. These findings emphasize the need for regular nutritional assessment and management to improve clinical outcomes in this population. Comparison of outcomes in hospitalized gastric cancer patients with and without protein-energy malnutrition (PEM). Hospital Outcomes Gastric Cancer Patients with PEM Gastric Cancer Patients without PEM Adjusted Odds ratio (aOR) 95% Confidence Interval P-value Mortality 9.1% (n=36999) 5.3% (n=68100) 1.6 1.5-1.7 &lt;0.001 Length of Stay 9.1 5.6 3.0 2.7-3.3 &lt;0.001 Sepsis 10% (n=41915) 6.4% (n= 82035) 1.6 1.5-1.6 &lt;0.001 Gastritis 3.9% (n=16174) 3.3% (n=41879) 1.2 1.1-1.31 &lt;0.001 GI Bleeding 7.1% (n= 28949) 6% (n= 28949) 1.1 1.0-1.2 &lt;0.001 AKI 28% (n=117439) 19% (n=1268134) 1.7 1.7-1.8 &lt;0.001

Dysphagia in Epilepsy Patients: The Silent Enemy.

Dysphagia, or difficulty swallowing, affects several individuals globally and can contribute to a reduced quality of life and partial medication adherence, especially in patients with epilepsy. There is also a lack of awareness and understanding of dysphagia among both health care providers and patients. This review examines the interplay between dysphagia and epilepsy treatment and the potential for optimizing diagnosis and intervention. Dysphagia, although a prevalent condition, is often underdiagnosed or misdiagnosed. Managing dysphagia involves patient and caregiver education on medication management techniques, lifestyle changes, and collaboration with a multidisciplinary health care team. There are also several modalities to screen and evaluate for dysphagia by using technology, using questionnaires, and asking probing questions. In patients with epilepsy, dysphagia can make swallowing certain formulations of antiseizure medications (ASMs) difficult or impossible-so, there is a need for tailored management strategies if discontinuing the medication is not feasible. Alternative formulations such as soluble, liquid, granular, or powder alternatives have been recognized as valuable options in addressing partial adherence due to dysphagia. Patients with dysphagia may have varying symptoms, making it challenging for clinicians to accurately identify the condition. To address this issue, various questionnaires and assessments have been developed to uncover swallowing difficulties. Administration of alternate ASM formulations must consider options available for each individual.

Nutritional risk screening and nutritional assessment for children with cerebral palsy: A review of the current research status and future directions.

Although the primary impairment involved in Cerebral palsy (CP) is motor function, malnutrition is also common. However, there is a lack of tool recommendations for early malnutrition risk screening in children with CP, and the means of nutritional intervention for children with CP are also limited. This study systematically searched the literature about clinical nutrition related content of cerebral palsy in Pubmed, MEDLINE, Embase, and the Cochrane Library in Jan 2024 and by hand searching, and we checked reference lists and citations to identify additional studies. Search terms include cerebral palsy, children, diagnosis, prediction, malnutrition, nutritional risk screening, nutritional assessment, nutritional support. Additions are marked in red in the modified version. The timing of diagnosis of CP has been moving forward, and some new diagnostic tools have been developed. Nutritional status is correlated with regional economic level, but there is still a malnutrition rate of nearly 30% in developed countries. Severe restrictions in terms of gross motor function, swallowing dysfunction, feeding difficulties, cognitive impairment, and insufficient energy intake are common risk factors for malnutrition in children with CP. Z-score should be calculated in combination with measurement indicators in the assessment of physical development of children with CP. The nutritional outcomes of children with CP can be improved by various means, including diversified a Nutrition Support Team (NST) interventions. The incidence of malnutrition in children with CP is high, which needs to be paid more attention. More effective malnutrition risk screening tools need to be developed for children with CP to guide the implementation of comprehensive and personalized nutritional interventions and improve malnutrient-related outcomes.

Individualized Neuroprognostication in Neonates With Hypoxic-Ischemic Encephalopathy Treated With Hypothermia.

To determine whether post-rewarming brain MRI enables individualized domain-specific prediction of neurodevelopmental outcomes at 2 years of age in infants treated with hypothermia for hypoxic-ischemic brain injury. We conducted a retrospective multicenter study of infants with moderate-to-severe hypoxic-ischemic encephalopathy (HIE) treated with hypothermia. Brain MRI abnormalities and the prediction of domain-specific 2-year neurodevelopmental outcomes were scored independently by 2 investigators after which consensus was reached for both imaging findings and outcome prediction. Neuroimaging patterns were categorized as normal, white matter (WM)/watershed-predominant, deep gray matter (DGM)-predominant, and near-total injury. Outcomes were predicted separately for mortality, cerebral palsy (CP) type and severity, cognitive delay, epilepsy, cerebral visual impairment (CVI), and feeding difficulties; these outcomes were predicted as highly unlikely, possible, probable, or highly likely. Of the 152 study infants, 27 (18%) died. The neurodevelopmental outcome at 2 years was available in all 125 survivors. CP was seen in 21 of 125 surviving infants (17%). No infants in the highly unlikely category developed CP while 90% in the highly likely category did. When CP was predicted as possible, 40% developed CP; all were mild and ambulatory. When CP was predicted as probable, 67% developed CP of whom 40% were severe and nonambulatory. Cognitive scores were available in 104 of 125 infants (83%). Cognitive delay was seen in 23 of 104 infants (22%) (15% mild and 7% severe). When cognitive delay was predicted as highly unlikely, 92% did not develop cognitive delay and the delay was mild in those who did. When cognitive delay was considered highly likely, this developed in 100%. When epilepsy, CVI, and feeding problems were predicted as highly unlikely, 98% did not develop epilepsy; for CVI and feeding problems, this was 100% and 97%, respectively. In 27 of 152 infants (18%), the investigators reached consensus that the overall injury was severe enough to consider redirection of care; 21 of 27 infants (78%) died. Of the survivors, 5 infants developed severe CP and 1 had a mild dyskinetic CP with swallowing problems and CVI. Individualized domain-specific categorical neuroprognostication mainly based on brain MRI is feasible, reliable, and highly accurate in infants with HIE.

Study on Feeding Diversification in Infants Aged 6 to 24 Months at the Therapeutic Nutrition Unit in the Paediatric Department of the Regional Hospital Center (RHC) of Man (Côte d’Ivoire)

Introduction: Inappropriate infant feeding practices are a factor in malnutrition in western Côte d'Ivoire, which can cause several problems. In fact, in this part of the country, 26% of children under the age of 5 are undernourished, and 6% of these children are wasted. In order to assess knowledge and practices regarding infant feeding, this survey was carried out among motherchild pairs at the Regional Hospital Center (RHC) of Man. Methods: This was a descriptive survey carried out from February to March 2023 in the therapeutic nutrition unit of the paediatric department of the RHC of Man. The target population consisted of 250 mother-child pairs attending the unit. The questions mainly focused on the sociodemographic characteristics of the infants, the socio-economic characteristics of the household, supplementary feeding, and information channels related to nutrition and feeding of children aged between 6 and 24 months. Results: The age group of 12 to 18 months was the most representative (40%), with a female predominance (56%). Exclusive breastfeeding was practiced in only 42% of infants, with early introduction of water in 63.6% between 4 and 6 months. A total of 98.8% of infants were up to date with their vaccination schedules, and 36.4% received medical follow-up. Diversification began before 6 months in 62% of infants, and in the majority of cases, cereal-based porridge was introduced between 4 and 6 months. The introduction of vegetables and meat was delayed, occurring between 7 and 12 months (42.4%) and between 13 and 18 months (28%) respectively. Breastfeeding cessation occurred in 23.6% between 13 and 18 months. The most common difficulties in supplementary feeding were childhood illness (38%) and children's refusal to eat (26%). Conclusion: Inadequate practices and introduction of complementary foods were noted in the majority of cases. Hence, there is an urgent need to educate mothers on WHO recommendations regarding infant feeding diversification.

53 Feeding difficulties in three infants with prenatal fentanyl exposure

53 Feeding difficulties in three infants with prenatal fentanyl exposure

Giant hemorrhagic omental cyst mimicking ascites in an 8-month-old infant: a case report

Introduction: Omental cysts are rare congenital lymphatic lesions in children, presenting as a palpable mass, abdominal distension, or acute abdomen. Complications include hemorrhage, rupture, and torsion. Diagnosis is challenging due to nonspecific symptoms, often requiring imaging. Surgical excision is the definitive treatment. This case highlights a unique presentation of a large hemorrhagic cyst, initially misdiagnosed as ascites. Case presentation: An 8-month-old male presented with irritability for 1 week, abdominal distension, poor feeding, and no stools for 3 days. Examination revealed fever, tachycardia, pale appearance, and distended abdomen with shifting dullness. Investigations showed severe anemia, leukocytosis, and complex ascites on imaging. Surgical exploration identified a 25 × 15 cm hemorrhagic omental cyst, resected alongside herniotomy for a left inguinal hernia. Histopathology confirmed cystic lymphangioma. Recovery was uneventful, with normal follow-up ultrasound at 6 months. Discussion: Omental cysts, rare in children, arise from ectopic lymphatic tissue and present variably as abdominal distension, pain, or intestinal obstruction. Misdiagnosed as ascites in this case, imaging often identifies cystic masses, though definitive diagnosis can be challenging. This infant’s severe anemia was unusual, requiring pre- and postoperative transfusions. Treatment typically involves complete excision; here, open resection was chosen due to the cyst’s size and hemorrhagic nature. This case underscores diagnostic challenges and emphasizes tailored management for rare abdominal cysts in children. Conclusion: This case highlights the diagnostic challenges of omental cysts in pediatric patients with atypical presentations. It underscores the importance of considering rare entities like omental cysts in acute abdomen cases and utilizing comprehensive diagnostic and surgical approaches.

P-903. Human Parechovirus Central Nervous System (CNS) Infection in Infants: A Multicenter Retrospective Case Series of the 2022 outbreak

Abstract Background Human parechovirus (PeVA) typically causes self-limiting respiratory and gastrointestinal infections. However, in infants, it can cause severe sepsis-like illness and CNS disease. In 2022, a CDC Health Advisory reported severe PeVA infections in young infants in multiple states. Our aim was to describe the clinical features, laboratory characteristics, and outcomes in infants with PeVA CNS infection during the 2022 multistate outbreak. Methods A multicenter retrospective chart review was conducted at 7 children’s hospitals (6 states) of infants with PeVA CNS infection. Cases were identified by positive CSF PCR testing using the FilmArray meningitis/encephalitis panel (BioFire Diagnostics, Salt Lake City, UT). Data were entered in REDCap and pertinent demographic and clinical data were analyzed. Results 103 infants were admitted from March-October 2022 with 30 (29%) of the admissions occurring in July. Patients’ median age was 18 days, 55% were male, and 93% born full term. The median length of hospital stay was 3.3 days. 19% required admission to an intensive care unit, 29% had increased oxygen requirement, and 5% required inotropic support. The most common clinical manifestations were fever (84%), irritability (63%), poor feeding (37%), tachycardia (31%), seizures (23%) and hypothermia (19%). The median peripheral white blood cell count was 5.6 x109/L and median CSF white blood cell count was 3 cells/mm3. The median CRP was 0.3 mg/dL and 54% of the infants had transaminitis. Brain MRIs were obtained in 55 cases; 31 (56%) demonstrated abnormalities with diffusion restriction involving white matter and thalami. EEGs were obtained in 40 cases; 22 (55%) revealed abnormalities. 99% of our infants survived, 13% were discharged with anti-seizure medications, and 10% received developmental follow-up. Conclusion PeVA should be considered in young infants presenting with fever or hypothermia, sepsis-like symptoms, or meningitis even with no laboratory findings of significant inflammatory responses. PeVA CNS infection in young infants can cause neurologic injury requiring long term neurodevelopmental follow up. Nationwide epidemiological studies are necessary to elucidate the dynamics of this infection. Disclosures Cristina Tomatis Souverbielle, MD, Merck, inc: Grant/Research Support

P-886. Small Intestinal Bacterial Overgrowth and Bloodstream Infection in the Pediatric Intestinal Failure Population

Abstract Background Patients with intestinal failure (IF) are reliant on central venous access for adequate nutrition, and thus are at risk of catheter-related infectious complications, including bloodstream infection (BSI) (1). These patients may suffer from small intestinal bacterial overgrowth (SIBO), with symptoms including abdominal bloating and diarrhea. SIBO can lead to poor enteral feeding tolerance and malnutrition (2). SIBO diagnosis is made via jejunal aspirate, hydrogen breath testing, or clinical suspicion based on relevant symptoms, and is often treated with prolonged antibiotics (2). There is a paucity of data investigating the effect of prolonged antibiotic exposure from SIBO on BSI episodes in this population. This study seeks to elucidate the connection between SIBO-related antibiotic exposure, frequency of BSI episodes, and antimicrobial resistance patterns of the causative organisms in the pediatric IF population.Table 1:Demographics of Pediatric Intestinal Failure Cohort (2009 – 2023) Sixty-nine patients met inclusion criteria for this study. Intestinal failure was defined as reliance on parenteral nutrition for ≥ 60 days with an associated diagnosis of short bowel syndrome or other condition associated with intestinal failure. The majority of patients entered the cohort prior to one year of life (median age 4.7 months), a result which was statistically significant among patients ever treated for small intestinal bacterial overgrowth compared to those never treated. Necrotizing enterocolitis was the most common underlying diagnosis leading to intestinal failure. Methods A retrospective chart review was conducted from January 2009 through June 2023 for patients treated in the Duke Pediatric Intestinal Rehabilitation Program. Data was stored within a RedCap database per institutional IRB protocol. Statistical analysis performed using SAS 9.4 (SAS Institute Inc., Cary, NC).Table 2:Description of BSI Episode Characteristics Among Patients Treated for Small Intestinal Bacterial Overgrowth Compared to No Treatment The majority of patients (61%) in the study cohort received treatment for small intestinal bacterial overgrowth (SIBO) at any point. Patients treated for SIBO were more likely to experience a bloodstream infection (BSI) event, and on average had a higher number of BSI events compared to those never treated for SIBO. Patients treated for SIBO were also more likely to have a BSI event including an organism with an identified pattern of resistance. BSI events were defined per CDC/NHSN LCBI 1 criteria, excepting in the case of commensals. Results The cohort included 69 patients, of whom 42 (61%) were treated for SIBO at any point during the study period. Median treatment length was 68 weeks (IQR 17.4 – 196.1). 73% of patients experienced a BSI event, with 263 episodes total. The median number of BSI episodes was higher for patients treated for SIBO at any point (p = 0.002). Klebsiella pneumoniae was the most commonly cultured organism (14% of isolates), followed by Coagulase-negative Staphylococci (13%). Thirteen percent of the isolates had an identified pattern of resistance, most commonly methicillin-resistance. There was a total of 263 bloodstream infection (BSI) episodes in the cohort, with 404 individual isolates identified. Enteric isolates were most common, namely Klebsiella pneumoniae and Enterococcus faecalis. Conclusion The majority of patients with IF received treatment for SIBO based on clinical diagnostic criteria. Treatment duration was prolonged, despite a lack of evidence for this practice. BSI was common in this cohort, most frequently with enteric pathogens. Preliminary analysis shows a higher median number of BSI episodes in patients ever treated for SIBO. Future applications of this data may include developing an institutional algorithm standardizing SIBO treatment. Disclosures All Authors: No reported disclosures

Clinical profile of neonates with polycythemia at a tertiary care hospital in North East, India

Background: Neonatal polycythemia (NPC) is associated with hyper viscosity of blood causing impairment of tissue oxygenation, perfusion and formation of microthrombi. Polycythemia is defined as a venous hematocrit (Hct) of≥65% or a haemoglobin (Hb)&gt;22g/dl. It presents with a nonspecific clinical features like plethora, poor feeding, lethargy, hypoglycaemia, jaundice. The aim of this study was to assess the clinical profile in neonates with polycythemia admitted in the paediatrics ward of a tertiary care centre in North East, India. Methods: A hospital based cross sectional study was carried out from January 2021 to October 2022 and 149 participants were recruited after fulfilling the inclusion and exclusion criteria with approval from ethical board. Statistical analysis was done using SPSS statistics version 21.0 WINDOWS (IBM Corp. Armonk, NY, USA). Results: Among the 149 cases, 89 (59.7%) neonates were symptomatic and 60 (40%) neonates were asymptomatic. The most common presentation were poor feeding and plethora in 89 neonates each (59.7% each), followed by lethargy (39.6%), hypogycemia (30.2%), jaundice (29.5%), necrotizing enterocolitis (21.5%), cyanosis (10%) and oliguria (10%). Partial exchange therapy was done in 30 neonates (20%), 59 neonates (39.6%) required intravenous fluid and 60 neonates (40.3%) were treated conservatively. All neonates were successfully discharged and no deaths were noted in our study. Conclusions: Anticipation, early recognition and intervention can prevent acute short-term complications and long-term sequelae of this easy to treat disorder.

The Epidemiology and Clinical Burdens of Human Parainfluenza Virus Infections Amongst Hospitalized Children Under 5 Years of Age in Jordan: A National Multi-Center Cross-Sectional Study

Human parainfluenza virus (HPIV) is a major cause of respiratory illnesses in children under five years, with clinical manifestations ranging from mild upper respiratory tract infections to severe lower respiratory tract diseases. This multi-center, cross-sectional study investigated the burden, clinical features, and predictors of respiratory viral infections in hospitalized children across four sites in Jordan. Nasopharyngeal specimens from 1000 eligible children were analyzed. In this article, we focused on HPIV infections. The overall HPIV positivity rate was 22.6%, with HPIV-3 accounting for 90.3% of cases. Significant geographic variability was observed, with higher positivity rates in the southern region. HPIV-positive cases frequently presented with symptoms like nasal congestion, tachypnea, and poor feeding. Co-infections with respiratory syncytial virus (RSV) or influenza were associated with worse outcomes, including an increased need for invasive ventilation. The logistic regression identified male gender, asthma, and respiratory acidosis as predictors of complications. Geographic differences in HPIV prevalence and severity were notable, emphasizing the influence of environmental and socioeconomic factors. These findings underscore the urgent need for enhanced HPIV surveillance, targeted public health interventions, and vaccine development to mitigate the disease burden. This study provides critical insights that guide healthcare strategies and improve outcomes in young children at risk of severe HPIV infections.

Validation of the Caregiver Analysis of Reported Experiences with Swallowing Disorders (CARES) Screening Tool for Neurodegenerative Disease.

Swallowing difficulties have a substantial impact on the burden experienced by care partners of individuals with neurodegenerative disease. Given this, there is a clear need to easily identify and quantify the unique aspects of swallowing-related burden. The purpose of this study was to establish the validity and reliability of the Caregiver Analysis of Reported Experiences with Swallowing Disorders (CARES) screening tool in care partners of individuals with neurodegenerative disease. Survey data were collected from an international sample of 212 individuals caring for family members with amyotrophic lateral sclerosis (n = 49), dementia (n = 110), or Parkinson's disease (n = 53). Respondents completed the CARES, Eating Assessment Tool-10, International Dysphagia Diet Standardisation Initiative-Functional Diet Scale, and Zarit Burden Interview. Reliability and validity of the CARES were evaluated via internal consistency alpha coefficients, Spearman's rho correlations, and logistic regression analyses with receiver operating characteristic (ROC) curves. CARES scores demonstrated excellent internal consistency (α = .90-.95) and high test-retest reliability (r = .86-.91). The CARES was found to be valid, as increased swallowing-related burden was associated with increased severity of swallowing difficulties (r = .79 to .84), diet restrictiveness (r = -.50 to -.54), and general caregiver burden (r = .36 to .40). The CARES had excellent discrimination between care partners with and without self-reported swallowing-related burden, with a score of ≥ 4 suggesting a heightened risk of experiencing this burden. Results establish the CARES as a valid and reliable screening tool that can detect burden related to swallowing difficulties among care partners of individuals living with neurodegenerative disease (score ≥ 4). Clinical implementation of the CARES requires the concerted efforts of the larger multidisciplinary team who can collaboratively identify the presence of burden and target the multifaceted sources of burden that a care partner may be experiencing.

Co-occurrence of Phelan-McDermid syndrome and metachromatic leukodystrophy

Very few cases have been described so far with co-occurrence of Phelan-McDermid syndrome (PMS) and metachromatic leukodystrophy (MLD). Those patients harbour a chromosome (chr) 22q13deletion encompassing at least the SHANK3 and ARSA genes and a pathogenic variant in the arylsulfatase A (ARSA) gene residing on the other allele. The deletion in chr22q13 results in PMS phenotype and the presence of pathogenic variation on the other intact copy of ARSA gene, leads to MLD phenotype due to biallelic loss of ARSA function. We describe a male infant, born to a third-degree consanguineous couple, who exhibited neuroregression at the age of 8 months, presented with developmental delay, hypotonia which rapidly progressed to feeding difficulties, axial hypotonia, ptosis, sleep disturbance, dystonia, spasticity, and abnormal eye movements. Brain MRI showed T2 hyperintensities consistent with MLD. Biochemical workup showed deficiency of ARSA enzyme activity. Genetic investigations revealed heterozygous deletion of size 2.5 Mb on chr 22q13.3 encompassing the entire ARSA gene and a pathogenic variant in the other copy of ARSA gene. Parents and sibling were tested and informed about the disease management and genetic testing in extended family members to understand the risk and preventive measures. Few case reports have proposed screening for urine sulfatides levels at the time of PMS diagnosis to identify pre-symptomatic or asymptomatic MLD patients to facilitate management and our case supports this proposal.

Successful Management of Cyanosis Due to Tongue Fall Back of 17 Days Newborn with Cleft Palate: A Case Report

Background: Cleft Lip and Palate (CLP) are one of the most frequently occurring craniofacial congenital anomalies. Itimpairs an individual's aesthetics, speech, hearing, and psychological and social life. Respiratory difficulty and feeding problems are the primary concern of cleft palate newborns. Case Presentation: A 17-day-old newborn presented to the Neonatal Intensive Care Unit on 10 January 2023 with difficulty in respiration and causes nasal regurgitation. Then the patient was referred to dental OPD to place a palatal device/obturator. The case presented here discusses the management of breathing problems to halt cyanosis in a neonate with a cleft palate. Conclusion: Another immediate problem for a newborn with a cleft lip/palate is difficulty in feeding. After adjusting an obturator to the patient’s mouth, she recovered from cyanosis. Currently, she is pretty comfortable in respiration as well as feeding. Chatt Maa Shi Hosp Med Coll J; Vol.23 (1); January 2024; Page 104-107

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation. We identified 19 ASXL3 variants, nine of which are novel. We documented recurrence in nontwin siblings due to parental mosaicism. The predominant prenatal finding was intrauterine growth restriction (35%) followed, after birth, by feeding difficulties (90.5%), hypotonia (85.7%), and gastroesophageal reflux disease (82.4%). Later in life, intellectual disability, language impairment, autism spectrum disorder (75%), and joint laxity (73.7%) were noted. Individuals with variants in the 3' mutational cluster region (MCR) of exon 12 exhibited more perinatal feeding problems, and those with variants in the 5' MCR of exon 11 displayed lower percentiles in height and occipitofrontal circumference, as well as higher frequency of arched eyebrows. This study is the first characterization of a Spanish BRPS cohort, with more than 50 clinical features analyzed, representing the most detailed phenotypic analysis to date.