An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.

BACKGROUND: ASXL3-related disorder, first described in 2013, is a genetic disorder with an autosomal dominant inheritance that is caused by a heterozygous loss-of-function variant in ASXL3. The most characteristic feature is neurodevelopmental delay with consistently limited speech. Feeding difficulty is a main symptom observed in infancy. However, no adolescent case has been reported. CASE PRESENTATION: A 14-year-old girl with ASXL3-related syndrome was referred to our hospital with subacute onset of emotional lability. Limbic encephalitis was ruled out by examination; however, the patient gradually showed a lack of interest in eating, with decreased diet volume. Consequently, she experienced significant weight loss. She experienced no symptoms of bulimia, or food allergy; therefore, avoidant/restrictive food intake disorder (ARFID) was clinically suspected. CONCLUSIONS: We reported the first case of ASXL3-related disorder with adolescent onset of feeding difficulty. ARFID was considered a cause of the feeding difficulty.

Weight Gain of Infants with Robin Sequence Treated Nonsurgically Using the Stanford Orthodontic Airway Plate (SOAP): 1-Year Follow-Up.

OBJECTIVE: To identify weight gain trends of infants with Robin sequence (RS) treated by the Stanford Orthodontic Airway Plate treatment (SOAP). DESIGN: Retrospective longitudinal cohort study. SETTING: Single tertiary referral hospital. PATIENTS: Eleven infants with RS treated with SOAP. INTERVENTIONS: Nonsurgical SOAP. MAIN OUTCOME MEASURES: Body weight, Weight-for-age (WFA) Z-scores, and WFA percentiles at birth (T0), SOAP delivery (T1), SOAP graduation (T2), and 12-months old (T3). RESULTS: Between T0 and T1, the weight increased but the WFA percentile decreased from 36.5% to 15.1%, and the Z-score worsened from -0.43 to -1.44. From T1 to T2, the percentile improved to 22.55% and the Z-score to -0.94. From T2 to T3, the percentile and the Z-scores further improved to 36.59% and -0.48, respectively. CONCLUSIONS: SOAP provided infants experiencing severe respiratory distress and oral feeding difficulty with an opportunity to gain weight commensurate with the WHO healthy norms without surgical intervention.

A prospective cohort study exploring the impact of tonsillectomy on feeding difficulties in children.

OBJECTIVES: Paediatric feeding difficulties are common, affecting up to 25% of otherwise healthy children, symptoms include food refusal, gagging, choking, and excessive mealtime duration. These symptoms are commonly described in pre-operative discussions about tonsillectomy. This prospective study explores the impact of tonsillectomy on paediatric feeding difficulties. DESIGN: This prospective cohort study invited caregivers of children undergoing tonsillectomy to complete a PediEAT questionnaire about their children's feeding behaviours, pre and post-operatively. The study was completed in two phases with 9 questions administered in phase 1 and three additional questions added for phase 2. A free text comments box was also provided. Responses were graded from 0 to 5, where 0 is 'never a problem' and 5 is 'always a problem' with eating behaviours. SETTING: The study was conducted at our institution, a tertiary paediatric ENT unit. PARTICIPANTS: Children aged between 6 months - 7 years undergoing tonsillectomy for any indication were invited to participate. MAIN OUTCOME MEASURES: Changes to the Pedi-EAT scores pre and post operatively were the main outcome measure. RESULTS: 102 participants were recruited between January 2020 and January 2022. The mean age of participants was 4.1 years, 87% had a concurrent adenoidectomy. The mean time to completion of post-operative questionnaire was 23 weeks after surgery. 9 of the 12 questions showed a statistically significant improvement in post-operative scores using a paired student t-test (p < 0.05). The most significant improvements related to 'gets tired from eating and is not able to finish' (1.49 pre-op, 0.91 post op, p < 0.01) and 'eats food that needs to be chewed' (1.4 pre-op, 0.72 post-op, p < 0.01). 13% of participants only underwent tonsillectomy and this group also showed a statistically significant improvement in fatigue during eating (p < 0.05). CONCLUSION: Symptoms of fatigue during eating and avoidance of food requiring mastication are most likely to improve following tonsillectomy in children.

Parental feeding concerns of infants and young children with oesophageal atresia.

AIM: Feeding problems have been described in young children with oesophageal atresia (OA). The primary aim of this study was to determine the specific concerns of parents and carers of infants and young children with OA regarding introducing solids and moving up to family foods. METHODS: A questionnaire was developed for parents and carers of infants and children with OA, aged 12 months to 6 years. Questionnaires were completed by 20 parents attending a multidisciplinary OA clinic between June 2016 and June 2017. Demographics and parental concern regarding feeding milestones were collected. The Montreal Children's Hospital Feeding Scale was completed. RESULTS: The majority of children (95%) had type C OA. Eleven (55%) parents agreed/strongly agreed that they were concerned about their child's feeding prior to the introduction of solids and about moving to more textured solids. The most common concern was choking and food impaction for both time points. Twelve (60%) parents agreed/strongly agreed that the majority of mealtimes in their child's first 1-2 years of life were stressful. Thirteen (65%) parents reported avoiding particular foods due to their child's OA. The majority of children (n = 17) had no feeding difficulty according to an objective scale, and the rest had minor difficulty. CONCLUSIONS: Parental concern around feeding still exists in infants and children without a severe feeding difficulty. Multidisciplinary involvement, including a dietitian and speech pathologist, from an early age is important for infants and children with OA.

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

BACKGROUND: CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is the major cause of CHARGE syndrome and is inherited in an autosomal dominant manner. Currently, the phenotype spectrum of CHARGE syndrome in neonatal population remain elusive. We aimed to investigate the phenotype spectrum of neonatal patients suspected to have CHARGE syndrome with pathogenic or likely pathogenic variants in the CHD7 gene. METHODS: We pooled next-generation sequencing data from the Neonatal Birth Defects Cohort (NBDC, ClinicalTrials.gov Identifier: NCT02551081) in Children's Hospital of Fudan University. The pathogenicity of novel variants was analyzed by bioinformatic and genetic analyses. Clinical information collection, Sanger sequencing and follow-up interviews were performed when possible. Cranial MRI of these patients was performed, the volumes of different regions of the brain were analyzed. RESULTS: A total of 12 unrelated patients in our cohort were found with CHD7 variants. Eight patients received a firm clinical diagnosis of CHARGE syndrome (Bergmann criteria, Blake criteria, Verloes criteria and Hale criteria). Three patients did not match any diagnostic criteria, and no patients matched the Verloes criteria. Phenotype spectrum analysis found that feeding difficulty was the dominant feature among this neonatal cohort. Six novel variants in the CHD7 gene (Glu2408*, Lys651*, c.5607 + 1G > T, Leu373Val, Lys2005Asnfs*37 and Gln1991*) were identified, expanding the variant database of the CHD7 gene. Cranial MRI analysis revealed significant volume loss in cingulate gyrus, occipital lobe, and cerebellum and volume gain in the left medial and inferior temporal gyri anterior white matter parts. CONCLUSIONS: Based on a relatively unbiased neonatal cohort, we concluded that CHARGE syndrome and CHD7 gene variants should be suspected in newborns who have feeding difficulty, and one or more malformations. TRIAL REGISTRATION: Neonatal Birth Defects Cohort (NBDC, ClinicalTrials.gov identifier: NCT02551081 ).

Gastrostomy Tube Feeding in Extremely Low Birthweight Infants: Frequency, Associated Comorbidities, and Long-term Outcomes.

OBJECTIVE: To assess the frequency of gastrostomy tube (GT) placement in extremely low birth weight (ELBW) infants, associated comorbidities, and long-term outcomes. STUDY DESIGN: Analysis of ELBW infants from 25 centers enrolled in the National Institute of Child Health and Human Development Neonatal Research Network's Generic Database and Follow-up Registry from 2006 to 2012. Frequency of GT placement before 18-22 months, demographic and medical factors associated with GT placement, and associated long-term outcomes at 18-22 months of corrected age were described. Associations between GT placement and neonatal morbidities and long-term outcomes were assessed with logistic regression after adjustment for center and common co-variables. RESULTS: Of the 4549 ELBW infants included in these analyses, 333 (7.3%) underwent GT placement; 76% had the GT placed postdischarge. Of infants with GTs, 11% had birth weights small for gestational age, 77% had bronchopulmonary dysplasia, and 29% severe intraventricular hemorrhage or periventricular leukomalacia. At follow-up, 56% of infants with a GT had weight <10th percentile, 61% had neurodevelopmental impairment (NDI), and 55% had chronic breathing problems. After adjustment, small for gestational age, bronchopulmonary dysplasia, intraventricular hemorrhage/periventricular leukomalacia, poor growth, and NDI were associated with GT placement. Thirty-two percent of infants with GTs placed were taking full oral feeds at follow-up. CONCLUSIONS: GT placement is common in ELBW infants, particularly among those with severe neonatal morbidities. GT placement in this population was associated with poor growth, NDI, and chronic respiratory and feeding problems at follow-up. The frequency of GT placement postneonatal discharge indicates the need for close nutritional follow-up of ELBW infants. TRIAL REGISTRATION: ClinicalTrials.gov: NCT00063063.

The mediating and moderating effects of meaning in life on the relationship between depression and quality of life in patients with dysphagia.

AIMS AND OBJECTIVES: To identify whether meaning in life has moderating and mediating effects on the relationship between depression and quality of life in patients with dysphagia. BACKGROUND: Dysphagic patients typically have multidimensional problems, such as depression, which can negatively influence their quality of life. Meaning in life, therefore, can be used as a psychological resource that may enhance quality of life for these patients. DESIGN: A descriptive cross-sectional research design was used. METHODS: Ninety patients with dysphagia were recruited for a survey from eight general and rehabilitation hospitals in Korea. The questionnaires, which included the Korean version of the Swallowing Quality of Life scale developed by Cha, the Center for Epidemiological Studies-Depression Scale developed by Radloff, and the Purpose in Life test developed by Crumbaugh and Maholick, were used for data collection. Descriptive statistics, Hayes' PROCESS macro and Cronbach's alpha were used for data analyses. RESULTS: Meaning in life was found to mediate the relationship between depression and quality of life in patients with dysphagia. However, the index of moderation was not statistically significant, which mean that meaning in life did not moderate the relationship between the patients' depression and quality of life. CONCLUSIONS: Meaning in life had a mediating effect on the relationship between depression and quality of life in patients with dysphagia. Thus, to improve the quality of life of patients with dysphagia, nurses should apply interventions to help them find meaning in life. RELEVANCE TO CLINICAL PRACTICE: Meaning in life can be used as a nursing intervention strategy to improve the quality of life for patients living with dysphagia and depression.

A pilot investigation of feeding problems in children with esophageal atresia.

While many long-term complications of esophageal atresia (EA) have been well investigated, little is known about feeding difficulties in children after surgical correction of EA and its impact on caregivers. This study investigates the feeding behaviors of children with EA through a validated feeding questionnaire. The Montreal Children's Hospital Feeding Scale (MCH-FS) was filled out by the primary caregiver during patient follow-up visits in the multidisciplinary EA clinic. Demographic information, EA subtype, associated anomalies and outcomes were recorded. Results were compared between groups and to a normative sample. Thirty caregivers have completed the MCH-FS; 26 patients had type C atresia (86.7%). In comparison to controls, 17.5% of EA cases are one standard deviation above the mean feeding difficulty score, while 6.7% (n = 2) cases are greater than two standard deviations above normative values. Typical EA patients (type C who were not born <30 weeks) had mean MCH-FS scores in the subclinical range, whereas one extremely premature child and the patients with non-type C EA (n = 4) all had scores in the severe range. Feeding difficulties of patients with typical EA appear mild. Likely explanations include the use of early protocolized care and intensive multidisciplinary care in follow up. Nonetheless, patients with complicated EA (non-type C) and their caregivers tend to experience significant feeding difficulties. Early targeted care may be required for this patient subset, and additional cases will be investigated to confirm these preliminary findings and explore further risk factors of feeding problem in this cohort.

The Edinburgh Feeding Evaluation in Dementia scale (EdFED): cross-cultural validation of the simplified Chinese version in mainland China.

AIMS AND OBJECTIVES: To translate the Edinburgh Feeding Evaluation in Dementia scale (EdFED) into simplified Chinese and to comprehensively evaluate its reliability and validity. BACKGROUND: The EdFED, the only validated instrument at present for assessing feeding difficulty in older people with dementia, is available in the original English and traditional Chinese versions, but not available in simplified Chinese. The traditional Chinese version may not be applicable in Mainland China because of linguistic and cultural differences. DESIGN: Survey. METHODS: The scale was translated into simplified Chinese by the cross-culture translation method, and 102 participants with dementia were assessed. Data were collected by comprehensive methods and analysed by correlation, Mokken scaling and exploratory factor analysis. RESULTS: Reliability and validity were demonstrated for the scale, and a strong and reliable Mokken scale was formed by six items. A three-factor structure was illustrated by exploratory factor analysis, and construct validity was further demonstrated by good convergent and discriminant validity. CONCLUSIONS: The simplified Chinese version shows good reliability and validity and can be applicable to measure feeding difficulty in people with dementia in Mainland China and other Chinese cultural groups. More work is required on Mokken scaling, and a confirmatory factor analysis is needed to confirm the three-factor structure. RELEVANCE TO CLINICAL PRACTICE: The validation of Ch-EdFED has provided a validated instrument for measuring feeding difficulty in people with dementia in Chinese culture; thus, early recognition of feeding difficulty in older people with dementia can be achieved and proper interventions could be designed. Moreover, with the availability of the three different validated versions of the EdFED, research into cross-cultural comparisons could be conducted.

Pediatric Intestinal Failure Associated Eating Disorder: An Overview of the Importance of Oral Feeding in a Population at Risk for Feeding Difficulties.

Achieving feeding skills and food acceptance is a multi-layered process. In pediatric intestinal failure (PIF), oral feeding is important for feeding skills development, physiologic adaptation, quality of life and the prevention of eating disorders. In PIF, risk factors for feeding difficulties are common and early data suggests that feeding difficulties are prevalent. There is a unique paradigm for the feeding challenges in PIF. Conventional definitions of eating disorders have limited application in this context. A pediatric intestinal failure associated eating disorder (IFAED) definition that includes feeding/eating skills dysfunction, psychosocial dysfunction, and the influence on weaning nutrition support is proposed.

Feeding Behaviors in Infants and Toddlers Later Diagnosed with Autism Spectrum Disorder: A Systematic Review.

Children with autism spectrum disorder (ASD) are five times more likely to have feeding difficulties than neurotypical peers, although the majority of evidence describes feeding difficulty in children age 2 years and older. The purpose of this study is to systematically review the literature on feeding characteristics of children age 0-24 months who were later diagnosed with ASD with an emphasis on the measurement tools used to assess these feeding behaviors. We conducted a systematic review of the literature using PRISMA guidelines. Using selected keywords, a search was conducted using PubMed, PsycINFO, and CINAHL databases for relevant articles to identify feeding characteristics in infants and toddlers (age 0-24 months) later diagnosed with ASD. Sixteen studies were selected for this review by two independent reviewers. Among the selected studies, feeding difficulties were reported in all infant oral feeding modalities (breastfeeding, bottle feeding, and complementary feeding) by infants later diagnosed with ASD. However, the evidence was conflicting among studies regarding feeding characteristics, such as sucking differences while breastfeeding, use of the spoon with feedings, and preference of solid food texture, that presented in infants later diagnosed with ASD. A lack of consistent measurement of feeding behaviors in infants later diagnosed with ASD contributes to the difficulty in comparison across studies. Future research should focus on developing targeted, validated instruments for measuring feeding difficulty in this population with emphasis on breastfeeding and bottle feeding difficulty.

Oral feeding challenges of infants of diabetic mothers.

Objective: The presence of diabetes before or during pregnancy can increase perinatal mortality and morbidities. It is well known an infant of a diabetic mother (IDM) may experience complications such as macrosomia, hypoglycemia, respiratory distress syndrome, cardiac anomalies, and other abnormalities of organogenesis. Medical providers including physicians, nurses, and speech therapists have experienced challenges with helping IDMs orally feed. Challenges with oral feeding can lead to prolonged hospital stays and placement of supplemental feeding devices. The etiology of an IDM's oral feeding delays is not well understood and does not necessarily affect all infants. Study design: This descriptive review explores what is known about potential contributing factors to feeding difficulty in IDMs, including differences in infant behavior and swallowing mechanics. Results: Some IDMs are unable to maintain active alert states and have decreased autonomic regulation and motor control. Studies of sucking and swallowing demonstrate reduced sucking pressure, fewer sucking bursts, and slowing of esophageal sphincter function. Conclusion: The increasing prevalence of diabetes during pregnancy makes further investigations into the characteristics and trajectories of state, behavior, and oral feeding of IDMs imperative.

Surgical Correction of Ankyloglossia Using Diode Laser-Assisted Frenectomy in a Pediatric Patient: A Case Report.

Tongue-tie is a continuation of the lingual frenum that is attached to the tip of the tongue. It is a congenital oral anomaly that could restrict tongue movements, caused by a lingual frenum a membrane that originates from the floor of the mouth to the bottom of the tongue that is too thick and short, which limits the natural ability of the tongue to move and function. The tongue is an auxiliary organ that facilitates speaking, mastication, and deglutition. This condition may result in several difficulties including chewing, breastfeeding, speech, and pronunciation of particular words, as well as possessing social and mechanical consequences. Ankyloglossia can be seen in young age groups. The use of lasers has increased in dentistry in recent years. However, in oral and maxillofacial surgery, the use of lasers has been largely restricted to soft tissues, and less focus is placed on the use of hard tissues. Carbon dioxide (CO2) lasers, erbium-doped yttrium aluminum garnet (Er: YAG) lasers, and Er, the erbium, chromium: yttrium: scandium gallium-garnet (Cr: YSGG) lasers are among the several types of lasers that have been utilized in dentistry for correction of soft tissues as well as for hard tissues.

A novel SSR4 variant associated with congenital disorder of glycosylation: a case report and related analysis.

Introduction: Congenital disorders of glycosylation (CDG) refer to monogenetic diseases characterized by defective glycosylation of proteins or lipids causing multi-organ disorders. Here, we investigate the clinical features and genetic variants of SSR4-CDG and conduct a preliminary investigation of its pathogenesis. Methods: We retrospectively report the clinical data of a male infant with early life respiratory distress, congenital diaphragmatic eventration, cosmetic deformities, and moderate growth retardation. Peripheral blood was collected from the case and parents, genomic DNA was extracted and whole-exome sequencing was performed. The mRNA expression of SSR4 gene was quantified by Real-time Quantitative PCR. RNA sequencing analysis was subsequently performed on the case and a healthy child. Results: Whole-exome sequencing of the case and his parents' genomic DNA identified a hemizygous c.80_96del in SSR4, combined with the case's clinical features, the diagnosis of CDG was finally considered. In this case, the expression of SSR4 was downregulated. The case were present with 1,078 genes downregulated and 536 genes upregulated. SSR4 gene expression was significantly downregulated in the case. Meanwhile, gene set enrichment analysis (GSEA) revealed that SSR4-CDG may affect hemostasis, coagulation, catabolism, erythrocyte development and homeostatic regulation, and muscle contraction and regulation, etc. Improvement of growth retardation in case after high calorie formula feeding and rehabilitation training. Conclusion: Our study expanded the SSR4-CDG variant spectrum and clinical phenotype and analyzed pathways potentially affected by SSR4-CDG, which may provide further insights into the function of SSR4 and help clinicians better understand this disorder.

Survey on the Patterns of Feeding Difficulties and Behaviors in Filipino Children with Autism Spectrum Disorder Seen in a Philippine Tertiary Hospital and the Impact of the COVID-19 Pandemic.

Objective: To describe patterns of feeding difficulties and behaviors of Filipino children diagnosed with Autism Spectrum Disorder (ASD). Methods: An electronic mealtime survey was administered to caregivers of 3- to 9-year-old children diagnosed with ASD in a Philippine tertiary government hospital. Descriptive statistics and correlation analyses between feeding difficulties measured as Mealtime Survey Score, sociodemographic data, and early feeding history were performed. The impact of the COVID-19 pandemic to these was analyzed through a binomial test. Results: All of the 115 study subjects reported at least one problematic feeding behavior, with picky eating being the most frequent (61.74%). Significantly, more feeding difficulties were observed among the children with reported early feeding difficulties during their 2nd and 3rd year of life. There were no documented statistically significant changes in feeding behaviors during the past six months of the COVID-19 pandemic. Conclusion: There is a high prevalence of feeding difficulties and problematic feeding behavior among Filipino children with ASD, however no significant changes to these during the past six months of the COVID-19 pandemic were documented. Present feeding difficulties and behaviors were associated with history of early feeding difficulties, highlighting the need to include feeding difficulties in screening tools, and early training programs and interventions for children with ASD.

Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty.

BACKGROUND: Feeding difficulties frequently co-occur with multisystem disorders attributed to rare genetic diseases. In this study, we aimed to describe the genetic manifestations and phenotype spectrum in infants experiencing feeding difficulties. METHODS: This case series included infants under 6 months old with feeding difficulties admitted to the neonatal department of Children's Hospital, Zhejiang University School of Medicine from October 2018 to May 2022. All infants underwent whole-exome sequencing (WES) during hospitalisation, and their clinical phenotypes and genetic results were analyzed. RESULTS: Among 28 infants studied, nine were preterm and 19 were full-term. Median admission age was 13.5 days (IQR 6.5, 35), with a median hospital stay of 16 days (IQR 10.5, 30). Overall, 12 (42.9%) cases were complicated with multiple malformations. Abnormal muscle tone (53.6%) and neurological issues (42.9%) were notable prevalent in these infants. Cranial MR abnormalities were noted in 96.2% of cases. Based on the combined analysis of WES results and clinical phenotypes, a total of 22 (78.3%) patients displayed disease-related genetic variation identified through WES; among them, 15 (53.6%) patients received genetic diagnoses, while 7 (25%) patients were suspected diagnoses. Positive findings were more frequent in full-term (89.5%) than preterm infants (55.6%). Ultimately, 24 (85.7%) patients were discharged alive, with 75% requiring post-discharge tube feeding. Following discharge, five patients developed new symptoms linked to genetic variants, and two patients died. CONCLUSIONS: Feeding difficulty may constitute a facet of the phenotypic spectrum of rare genetic diseases. Whole-exome sequencing can enhance molecular diagnosis accuracy for infants with feeding difficulties.

Progressive Dysphagia in Joubert Syndrome: A Report of a Rare Case.

Joubert syndrome is an uncommon, autosomal recessive disorder characterized by abnormal brain development involving the underdevelopment or absence of the cerebellar vermis. The classic clinical features include developmental delays, hypotonia, abnormal eye movements, and hyperpnea. On brain magnetic resonance imaging (MRI), an essential finding for the diagnosis of Joubert syndrome is a cerebellar and brainstem malformation called the molar tooth sign, characterized by a hypoplastic cerebellar vermis with dysplasia of the superior cerebellar peduncles. Here, we describe a case of a two-month-old female with an atypical presentation of Joubert syndrome. Her initial clinical presentation included respiratory distress and concerns for reflux complicated with aspiration pneumonia. Early recognition of clinical and radiologic findings for Joubert syndrome enables an early diagnosis, and therefore timely interventions for improving the child's development and quality of life.

Chromosomal 1p Duplication in a Pediatric Patient: A Case Report.

Chromosomal 1p duplications are a rarity, with minimal literature on the topic. As a result, it is useful to document patient presentations with this defect to help guide the management and treatment of future patients with this genetic abnormality. We present a successful case report of a patient with a chromosome 1p31.3p31.1 duplication, including her initial presentation, the path to genetic testing, and patient outcome. Chromosomal duplication was found on genetic testing performed for failure to thrive and inability to meet her developmental milestones. The patient was significantly undernourished due to her feeding difficulties, leading to her presentation of altered mental status, growth arrest, dehydration, and hypoglycemia. Intervention in the form of a gastrostomy tube and fundoplication led to a significant improvement in the stability seen in the patient at the time of discharge. Long-term cognitive-linguistic treatment is required for continued neurological development. Only 11 publications currently exist regarding chromosome 1p duplication. However, none are specific to the 1p31.3p31.1 duplication, making this case report the first of its kind. Overlapping chromosomal 1p duplications have been described in patients with low birth weight and growth delays, palate abnormalities, intellectual disability, microcephaly, heart defects, and ambiguous genitalia. Despite the rarity of this duplication, it is essential to document these cases because if some of these genetic abnormalities are identified in more significant numbers, they can be conclusively linked to the patient's phenotype. In addition, the treatment plan played an instrumental role in stabilizing our patient's condition. It is also helpful to report the treatment plans so future clinicians who encounter this situation can utilize the successful treatment plans that most align with their patient's clinical presentation.

Ankyloglossia: Clinical and Sociodemographic Predictors of Diagnosis and Management in the United States, 2004 to 2019.

OBJECTIVE: The past 2 decades have seen a rapid increase in the diagnosis of ankyloglossia. Patients are often managed by lingual frenotomy. The objective is to define the clinical and socioeconomic factors that determine which patients receive frenotomy. STUDY DESIGN: A retrospective analysis of commercially insured children. SETTING: Optum Data Mart database. METHODS: Trends in frenotomy including provider and setting were described. Multiple logistic regression was used to determine predictors of frenotomy. RESULTS: Diagnosis of ankyloglossia increased from 2004 to 2019 (from 3377 in 2004 to 13,200 in 2019), while lingual frenotomy similarly increased from 1483 in 2004 to 6213 in 2019. The proportion of inpatient frenotomy procedures increased from 6.2% to 16.6% from 2004 to 2019, with pediatricians having the highest odds of performing inpatient frenotomies (odds ratio: 4.32, 95% confidence interval: 4.08, 4.57). Additionally, during the study period, the proportion of frenotomies performed by pediatricians increased from 13.01% in 2004 to 28.38% in 2019. In multivariate regression analyses, frenotomy was significantly associated with the male sex, white non-Hispanic ethnicity, higher parental income and education, and a greater number of siblings. CONCLUSION: Ankyloglossia has been increasingly diagnosed in the past 2 decades, and among patients with ankyloglossia, frenotomy is increasingly performed. This trend was driven at least in part due to increasing rates of pediatricians as proceduralists. After accounting for maternal and patient-level clinical factors, socioeconomic differences in the management of ankyloglossia were observed.