Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.

BACKGROUND: New York State (NYS) utilizes a three-tiered cystic fibrosis newborn screening (CFNBS) algorithm that includes cystic fibrosis transmembrane conductance regulator (CFTR) gene sequencing. Infants with >1 CFTR variant of potential clinical relevance, including variants of uncertain significance or varying clinical consequence are referred for diagnostic evaluation at NYS cystic fibrosis (CF) Specialty Care Centers (SCCs). AIMS: As part of ongoing quality improvement efforts, demographic, screening, diagnostic, and clinical data were evaluated for 289 CFNBS-positive infants identified in NYS between December 2017 and November 2020 who did not meet diagnostic criteria for CF and were classified as either: CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis (CRMS/CFSPID) or CF carriers. RESULTS: Overall, 194/289 (67.1%) had CFTR phasing to confirm whether the infant's CFTR variants were in cis or in trans. Eighteen complex alleles were identified in cis; known haplotypes (p.R117H+5T, p.F508del+p.L467F, and p.R74W+p.D1270N) were the most common identified. Thirty-two infants (16.5%) with all variants in cis were reclassified as CF carriers rather than CRMS/CFSPID. Among 263 infants evaluated at an NYS SCC, 70.3% were reported as having received genetic counseling about their results by any provider, with 96/263 (36.5%) counseled by a certified genetic counselor. CONCLUSION: Given the particularly complex genetic interpretation of results generated by CFNBS algorithms including sequencing analysis, additional efforts are needed to ensure families of infants with a positive CFNBS result have CFTR phasing when needed to distinguish carriers from infants with CRMS/CFSPID, and access to genetic counseling to address implications of CFNBS results.

Vocal Cord Dysfunction During the COVID-19 Pandemic.

BACKGROUND: Vocal cord dysfunction is an upper-airway disorder characterized by exaggerated and transient glottic constriction causing respiratory and laryngeal symptoms. Common presentation is with inspiratory stridor often in the context of emotional stress and anxiety. Other symptoms include wheezing (which may be on inspiration), frequent cough, choking sensation, or throat and chest tightness. This is seen commonly in teenagers, particularly in adolescent females. The COVID-19 pandemic has been a trigger for anxiety and stress with an increase in psychosomatic illness. Our objective was to find out if the incidence of vocal cord dysfunction increased during COVID-19 pandemic. METHODS: We performed a retrospective chart review of all the subjects with a new diagnosis of vocal cord dysfunction who were seen at the out-patient pulmonary practice at our children's hospital between January 2019-December 2020. RESULTS: The incidence of vocal cord dysfunction in 2019 was found to be 5.2%, (41/786 subjects seen) compared to 10.3% (47/457 subjects seen) in 2020, which is a nearly 100% increase in incidence (P < .001). CONCLUSIONS: It is important to recognize that vocal cord dysfunction has increased during the COVID-19 pandemic. In particular, physicians treating pediatric patients, as well as respiratory therapists, should be aware of this diagnosis. It is imperative to avoid unnecessary intubations and treatments with bronchodilators and corticosteroids as opposed to behavioral and speech training to learn effective voluntary control over the muscles of inspiration and the vocal cords.

Hypnosis for Asthma and Vocal Cord Dysfunction in a Patient With Autism.

Wheezing in children often is the result of asthma, but vocal cord dysfunction (VCD) may cause stridor or sounds that sometimes are misattributed to the wheezing of asthma. The frequent comorbidity of asthma and VCD also adds to the difficulty in making a clear diagnosis. The challenges of evaluating and treating wheezing are complicated further in children with developmental disorders, such as autism, because of the difficulties of obtaining an adequate history and assessing the clinical response to treatment. This article presents a patient with multiple psychiatric problems, including autism, with severe recurrent wheezing as a result of vocal cord dysfunction and asthma. Hypnosis has previously proven efficacious for treating vocal cord dysfunction, and in this case, hypnotic techniques were major factors in successful symptom control.

Adolescent asthma: a developmental approach.

PURPOSE OF REVIEW: The purpose of this review is to update providers on how best to address asthma in adolescents. RECENT FINDINGS: Asthma is a common chronic disease, with increased prevalence in minority populations, especially those living in poverty. Published treatment guidelines form the basis of modern asthma treatment, based on disease severity, frequency of symptoms, and lung function measured by spirometry. Written asthma action plans are recommended for patients with persistent asthma. Treating teens with asthma can be challenging, as they may deny disease, underreport symptoms, abandon medication regimens, and engage in risk-taking behaviors. Psychiatric comorbidities such as depression, anxiety, and even posttraumatic stress disorder can have profound effects on the adolescent with asthma, making the treatment much more challenging. SUMMARY: Pediatricians should utilize a developmental approach, incorporating guideline-based therapies when developing treatment plans for teens with asthma. Resources such as school-based health centers, community health workers, mental health professionals, and possibly asthma specialists are all valuable aids to the physician in the medical home in providing care coordination for their teens with asthma.

How to best deliver care to children with chronic illness: cystic fibrosis as a model.

PURPOSE OF REVIEW: Children with special healthcare needs benefit when there is close coordination of care for their chronic disease between specialists and primary care providers. The importance of coordination between primary and specialty care has become better recognized with the increased attention to a comprehensive 'medical home' model of care. RECENT FINDINGS: Care coordination requires close communication between primary care providers and specialty care centers. Primary care providers are in an ideal position to assist patients and families by providing care coordination, not only within the healthcare system, but also between the healthcare system and community services and schools. Coordination is best undertaken at the physician practice level, utilizing a team approach. Nonphysician staff provide added value in coordination of care for patients and families. Opportunities for reimbursement for this care are being developed. SUMMARY: Coordination of care for the many children with special healthcare needs can be realized using existing resources. Using cystic fibrosis as an example, implementation methods within pediatric primary care practices are presented and discussed.

Exercise intolerance in obese children--is it asthma?

This is a pilot study designed to examine the frequency of asthma in obese children who have exertional dyspnea. Obese children who complained of breathlessness with exercise and who denied asthma were invited to enroll. If there was evidence of airflow limitation on spirometry, nebulized albuterol was administered and spirometry was repeated. If there was no significant improvement or if the baseline spirometry was normal, exercise testing was performed. A total of 20 patients (ages from 8 to 16 years) with BMI from 22 to 61 were enrolled. Of the 19 who completed the study, 9 (47.3%) met criteria for asthma. Recognizing and treating asthma may lead to improved exercise tolerance and improved weight status in these obese individuals.

Chylothorax fluid autoinfusion in a chronic hemodialysis patient.

A large left-sided pleural effusion occurred in a 12-year-old end-stage renal disease patient undergoing chronic hemodialysis (HD). The fluid had physical and laboratory characteristics of chylothorax (CHTX) and was probably related to the multiple HD accesses placed in the neck area. Initially, thoracenteses were performed and the fluid discarded. Subsequently, a permanent drainage catheter placed in the left hemithorax was connected to a syringe with a stopcock, and from here to the arterial port of the HD catheter. One liter of CHTX fluid was removed on dialysis days three times weekly, for 7.5 weeks, and directly re-infused into the patient in a closed sterile circuit. A total of about 20 l was safely returned to the patient. The procedure was well tolerated and provided time until the CHTX resolved spontaneously. It is recommended that in similar clinical settings re-infusion of CHTX fluid should be performed to prevent the loss of protein-/T-cell-rich fluid.