Transparent deep learning to identify autism spectrum disorders (ASD) in EHR using clinical notes.

Objective: Machine learning (ML) is increasingly employed to diagnose medical conditions, with algorithms trained to assign a single label using a black-box approach. We created an ML approach using deep learning that generates outcomes that are transparent and in line with clinical, diagnostic rules. We demonstrate our approach for autism spectrum disorders (ASD), a neurodevelopmental condition with increasing prevalence.

The International SCN8A Patient Registry: A Scientific Resource to Advance the Understanding and Treatment of a Rare Pediatric Neurodevelopmental Syndrome.

Genetic variants in the gene underlie a wide spectrum of neurodevelopmental phenotypes that range from severe epileptic encephalopathy to benign familial infantile epilepsy to neurodevelopmental delays with or without seizures. A host of additional comorbidities also contribute to the phenotypic spectrum. As a result of the recent identification of the genetic etiology and the length of time it often takes to diagnose patients, little data are available on the natural history of these conditions.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals.

Purpose: Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort.

DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians.

The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically.

Reproductive Health Counseling and Concerns Among Women with Congenital Heart Defects With and Without Disabilities.

Women with disabilities are less likely to receive reproductive health counseling than women without disabilities. Yet, little is known about reproductive health counseling and concerns among women with congenital heart defects (CHD) and disabilities. We used population-based survey data from 778 women aged 19 to 38 years with CHD to examine contraceptive and pregnancy counseling and pregnancy concerns and experiences by disability status, based on six validated questions on vision, hearing, mobility, cognition, self-care, and living independently.

Statewide county-level autism spectrum disorder prevalence estimates-seven U.S. states, 2018.

Purpose: Autism spectrum disorder (ASD) prevalence information is necessary for identifying community needs such as addressing disparities in identification and services.

Methods: Seven Autism and Developmental Disabilities Monitoring (ADDM) Network sites participated in a pilot project to link statewide health and education data to generate statewide and county-level prevalence estimates for a broader age range for their states for the first time.

Results: Statewide prevalence of ASD for ages 3-21 years in 2018 ranged from 1.

Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.

Background: Quantifying associations between genetic mutations and loss of ambulation (LoA) among males diagnosed with childhood-onset dystrophinopathy is important for understanding variation in disease progression and may be useful in clinical trial design.

Methods: Genetic and clinical data from the Muscular Dystrophy Surveillance, Tracking, and Research Network for 358 males born and diagnosed from 1982 to 2011 were analyzed. LoA was defined as the age at which independent ambulation ceased.

The role of novel COQ8B mutations in glomerulopathy and related kidney defects.

Background And Objectives: Glomerulopathies affect kidney glomeruli and can lead to end-stage renal disease if untreated. Clinical and experimental evidence have identified numerous (>20) genetic mutations in the mitochondrial coenzyme Q8B protein (COQ8B) primarily associated with nephrotic syndrome. Yet, little else is understood about COQ8B activity in renal pathogenesis and its role in mitochondrial dysfunction.

Optimizing Corpus Creation for Training Word Embedding in Low Resource Domains: A Case Study in Autism Spectrum Disorder (ASD).

Automating the extraction of behavioral criteria indicative of Autism Spectrum Disorder (ASD) in electronic health records (EHRs) can contribute significantly to the effort to monitor the condition. Word embedding algorithms such as Word2Vec can encode semantic meanings of words in vectors and assist in automated vocabulary discovery from EHRs. However, text available for training word embeddings for ASD is miniscule compared to the billions of tokens typically used.

Missense variants in in a patient with Joubert syndrome.

We present a patient with a clinical diagnosis of Joubert syndrome with COACH phenotype who carries two variants of uncertain significance (VUS). One VUS can be reclassified as "likely pathogenic" by adding clinical data. As genetic testing becomes more accessible, more VUS will require clinical correlation for accurate classification.

Automated Extraction of Diagnostic Criteria From Electronic Health Records for Autism Spectrum Disorders: Development, Evaluation, and Application.

Background: Electronic health records (EHRs) bring many opportunities for information utilization. One such use is the surveillance conducted by the Centers for Disease Control and Prevention to track cases of autism spectrum disorder (ASD). This process currently comprises manual collection and review of EHRs of 4- and 8-year old children in 11 US states for the presence of ASD criteria.

Postfolate spina bifida lesion level change.

Background: Spina bifida accounts for a large proportion of birth defects in the United States. Studies have evaluated the decrease in prevalence at birth after folate fortification of food grains, but little is known about neurologic functional changes related to fortification. This study assesses the functional level of lesions in the prefortification and postfortification eras.

Recognition of clinical characteristics for population-based surveillance of fetal alcohol syndrome.

Background: The diagnosis of fetal alcohol syndrome (FAS) rests on identification of characteristic facial, growth, and central nervous system (CNS) features. Public health surveillance of FAS depends on documentation of these characteristics. We evaluated if reporting of FAS characteristics is associated with the type of provider examining the child.