BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.

Using Telemedicine to Overcome Barriers to Neurodevelopmental Care from the Neonatal Intensive Care Unit to School Entry.

Dedicated Neonatal Intensive Care Unit (NICU) follow-up programs are recommended for ongoing surveillance for infants at high-risk for future neurodevelopmental impairment (NDI). Systemic, socioeconomic, and psychosocial barriers remain for referrals and the continued neurodevelopmental follow-up of high-risk infants. Telemedicine can help overcome these barriers.

Neurogenetic and Metabolic Mimics of Common Neonatal Neurological Disorders.

Neurogenetic and metabolic diseases often present in the neonatal period, masquerading as other disorders, most commonly as neonatal encephalopathy and seizures. Advancements in our understanding of inborn errors of metabolism are leading to an increasing number of therapeutic options. Many of these treatments can improve long-term neurodevelopment and seizure control.

A Neurologist's Guide to Neonatal Neurodevelopmental Assessments and Preterm Brain Injury.

Despite advances in medical care and improved survival of extremely preterm infants, rates of neurodevelopmental impairment remain high. Outcomes are significantly improved with early intervention, but infants must be appropriately identified to facilitate services. Neuroimaging provides important information regarding neurodevelopmental outcomes but prognosticating and communicating risk remains challenging.

The Autism Detection in Early Childhood Tool: Level 2 autism spectrum disorder screening in a NICU Follow-up program.

Objective: Children born preterm are at increased risk for autism spectrum disorder (ASD). However, early diagnosis of ASD is challenging because conventional screening Level 1 tools are less reliable in this population. We sought to determine whether the Autism Detection in Early Childhood (ADEC) and Child Behavior Checklist (CBCL) could accurately identify children at risk for ASD in a NICU Follow-up setting and thus facilitate referral for formal ASD evaluation.

Predictors of Neurodevelopmental Impairment After Neonatal Bacterial Meningitis.

Background: Neonatal bacterial meningitis has high rates of morbidity and mortality. Early clinical signs and neuroimaging suggest adverse outcomes, but little is known about their combined predictive properties. We evaluated the combination of findings most associated with death and neurodevelopmental impairment.

Scratching Past Lymphadenopathy: A Case of Bartonella henselae Encephalitis.

A previously healthy 6-year-old boy presented with new onset seizure activity and altered mental status. His prehospital course included prolonged fever, vague abdominal complaints, and unusual behavior. Neurological testing was unrevealing, and his symptoms slowly improved without intervention.

Reversible Cerebral Vasoconstriction Syndrome: A Novel Mechanism for Neurological Complications in Schimke Immuno-osseous Dysplasia.

Background: Schimke immuno-osseous dysplasia is a rare autosomal recessive disease resulting from biallelic SMARCAL1 mutations. It presents in early childhood and is characterized by short stature, nephropathy, and immunodeficiency. Approximately 50% of those affected have neurological complications including migraines, transient ischemic attacks, and strokes.

Does flying present a threat of polybrominated diphenyl ether exposure?

Objective: To investigate possible exposure to polybrominated diphenyl ethers (PBDEs) in US professional airline workers.

Methods: We recruited 30 healthy US professional airline workers who lived in the Dallas, Texas, area to test their blood PBDE levels. We examined the relationship between hours worked in an airplane and total PBDE blood levels.

Bisphenol A (BPA) in U.S. food.

Bisphenol A (BPA) is a chemical used for lining metal cans and in polycarbonate plastics, such as baby bottles. In rodents, BPA is associated with early sexual maturation, altered behavior, and effects on prostate and mammary glands. In humans, BPA is associated with cardiovascular disease, diabetes, and male sexual dysfunction in exposed workers.

Perfluorinated compounds, polychlorinated biphenyls, and organochlorine pesticide contamination in composite food samples from Dallas, Texas, USA.

Objectives: The objective of this article is to extend our previous studies of persistent organic pollutant (POP) contamination of U.S. food by measuring perfluorinated compounds (PFCs), organochlorine pesticides, and polychlorinated biphenyls (PCBs) in composite food samples.

Polybrominated diphenyl ethers (PBDEs) and hexabromocyclodecane (HBCD) in composite U.S. food samples.

Objectives: This study was designed to update previous U.S. market basket surveys of levels and polybrominated diphenyl ether (PBDE) dietary intake calculations.

Discussion of "Polybrominated diphenyl ethers in aircraft cabins--a source of human exposure?" by Anna Christiansson et al. [Chemosphere 73(10) (2008) 1654-1660].

This paper presents new data on the levels of polybrominated diphenyl ethers (PBDEs) in American airline workers. This pilot study did not find elevated total PBDEs in the blood of nine flight attendants and one aircraft pilot who have worked in airplanes for at least the past 5 years. These findings are not consistent with the findings of elevated blood levels of PBDEs from the 2008 Christiansson et al.

Polybrominated diphenyl ether levels in foodstuffs collected from three locations from the United States.

Objectives: The objectives of this study were to provide updated measurements of PBDEs in US food, to estimate possible difference in levels from differing geographical regions, and to provide an improved estimate of current dietary intake.

Methods: Thirty matched food samples for a total of 90 samples were collected from each of three cities (Los Angeles, California; Dallas, Texas; and Albany, New York) and were analyzed for 13 polybrominated diphenyl ether congeners (BDE 28, 47, 49, 66, 85, 99, 100, 138, 153, 154, 183, 203, and 209). Dietary intake of PBDEs was estimated by food type, age, and sex.