Previous missed visits and independent risk of loss to follow-up in the high-risk neonatal follow-up clinic.

BACKGROUND: Neonatal intensive care unit (NICU) patients are at high risk for developmental delays. As a result, many are seen in neonatal follow-up (NFU) clinics. Disparities in NFU follow-up rates by social determinants of health exist. AIMS: Determine how the number of missed visits (composed of patient-canceled visits and no-show visits) relates to risk of loss to follow-up in the NFU clinic. STUDY DESIGN: Retrospective cohort study at a regional specialty center in the United States. SUBJECTS: 262 patients born between January 1, 2014, and December 31, 2017, who were referred to the NFU clinic. OUTCOME MEASURES: Logistic binomial regression was used to model risk ratio of loss to follow-up over two years, defined as not attending a recommended follow-up visit and not informing the clinic of a reason for discontinued care. RESULTS: Of 262 infants, 220 patients (84 %) were seen for at least one visit and 143 (65 %) completed follow-up. Younger maternal age, maternal smoking during pregnancy, maternal drug use during pregnancy, and public insurance were all associated with missing more visits. For each additional missed visit, the risk of loss to follow-up was 1.73 times higher unadjusted (95 % CI: 1.33, 2.26) and 1.81 times higher (95 % CI: 1.36, 2.40) after adjusting for confounders. The risk ratio of loss to follow-up for no-show visits was three times higher than that for patient-canceled visits. CONCLUSIONS: Each missed visit was independently associated with higher risk of loss to follow-up from NFU clinic, even after adjusting for other risk factors.

A call for disability health curricula in medical schools.

People with disabilities encounter significant health and health-care inequities yet disability health training in medical education remains inadequate. This Scientific Life article examines the need to integrate disability health education into medical school curricula and shares successful training examples that can serve as a framework for how to accomplish this.

Autosomal-dominant WFS1-related disorder-Report of a novel WFS1 variant and review of the phenotypic spectrum of autosomal recessive and dominant forms.

Wolfram syndrome was initially reported as an autosomal recessive (AR), progressive neurodegenerative disorder that leads to diabetes insipidus, childhood onset diabetes mellitus (DM), optic atrophy, and deafness (D) also known as DIDMOAD. However, heterozygous dominant pathogenic variants in Wolfram syndrome type 1 (WFS1) may lead to distinct, allelic conditions, described as isolated sensorineural hearing loss (SNHL), syndromic SNHL, congenital cataracts, or early onset DM. We report a family with a novel dominant, likely pathogenic variant in WFS1 (NM_006005.3) c.2605_2616del12 (p.Ser869_His872del), resulting in cataracts, SNHL, and DM in a female and her mother. A maternal aunt had cataracts, DM, and SNHL but was not tested for the familial WFS1 mutation. Both the mother and maternal aunt had early menopause by age 43 years and infertility which may be a coincidental finding that has not been associated with autosomal dominant AD WFS1-related disorder to the best of our knowledge. Screening at risk individuals in families with the AR Wolfram syndrome, for DM, SNHL, and for cataracts is indicated.

Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.

The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic counseling services to individuals and families undergoing evaluation for neurofibromatosis (NF) or who have received a diagnosis of NF, including NF1, NF2, and schwannomatosis. This resource represents the opinions of a multi-center working group of Certified Genetic Counselors with experience in the care of individuals with NF, providing topics to be considered for the incorporation into a clinical genetic counseling session.

Clinical genetic testing for patients with autism spectrum disorders.

BACKGROUND: Multiple lines of evidence indicate a strong genetic contribution to autism spectrum disorders (ASDs). Current guidelines for clinical genetic testing recommend a G-banded karyotype to detect chromosomal abnormalities and fragile X DNA testing, but guidelines for chromosomal microarray analysis have not been established. PATIENTS AND METHODS: A cohort of 933 patients received clinical genetic testing for a diagnosis of ASD between January 2006 and December 2008. Clinical genetic testing included G-banded karyotype, fragile X testing, and chromosomal microarray (CMA) to test for submicroscopic genomic deletions and duplications. Diagnostic yield of clinically significant genetic changes was compared. RESULTS: Karyotype yielded abnormal results in 19 of 852 patients (2.23% [95% confidence interval (CI): 1.73%-2.73%]), fragile X testing was abnormal in 4 of 861 (0.46% [95% CI: 0.36%-0.56%]), and CMA identified deletions or duplications in 154 of 848 patients (18.2% [95% CI: 14.76%-21.64%]). CMA results for 59 of 848 patients (7.0% [95% CI: 5.5%-8.5%]) were considered abnormal, which includes variants associated with known genomic disorders or variants of possible significance. CMA results were normal in 10 of 852 patients (1.2%) with abnormal karyotype due to balanced rearrangements or unidentified marker chromosome. CMA with whole-genome coverage and CMA with targeted genomic regions detected clinically relevant copy-number changes in 7.3% (51 of 697) and 5.3% (8 of 151) of patients, respectively, both higher than karyotype. With the exception of recurrent deletion and duplication of chromosome 16p11.2 and 15q13.2q13.3, most copy-number changes were unique or identified in only a small subset of patients. CONCLUSIONS: CMA had the highest detection rate among clinically available genetic tests for patients with ASD. Interpretation of microarray data is complicated by the presence of both novel and recurrent copy-number variants of unknown significance. Despite these limitations, CMA should be considered as part of the initial diagnostic evaluation of patients with ASD.

Billing for medical genetics and genetic counseling services: a national survey.

In January 2007 the American Medical Association added a new Current Procedural Terminology(R) (CPT) code, 96040, for "Medical Genetics and Genetic Counseling Services." In order to identify the impact of having this new code and to identify issues with implementation of the code, the National Society of Genetic Counselors (NSGC) CPT(R) Working Group surveyed NSGC members using an internet-based survey tool. The majority of respondents (94%) reported being aware of the new code and over half of the respondents (69%) said they were billing for genetic counseling. Approximately 24% of those billing reported using 96040. Many facilities are not using this code and the reported success of billing using 96040 is highly varied. Continued education may be beneficial to encourage reimbursement for 96040 and follow up is needed to assess the ongoing implementation and impact of the new CPT(R) code.