A Sense of Humor is Especially Important During Difficult Times.

Artist-critic Clive James said: "Common sense and a sense of humor are the same thing, moving at different speeds. A sense of humor is just common sense, dancing. Those who lack humor are without judgment and should be trusted with nothing.

Child neurology in the 21st century: More than the sum of our RVUs.

In September 2017, the Child Neurology Society (CNS) convened a special task force to review the practice of child neurology in the United States. This was deemed a necessity by our membership, as our colleagues expressed discouragement and burnout by the increase in workload without additional resources; reliance on work relative value units (wRVUs) as the sole basis of compensation; a push by administrators for providers to see more patients with less allotted time; and lack of administrative, educational, and research support. The CNS Task Force designed and distributed a survey to multiple academic divisions of various sizes, as well as to private practices.

Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses.

Background: Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, language, literacy and attention. A complex genetic aetiology is presumed in most, with monogenic mutations in accounting for >5% of cases.

Objective: To identify rare, causal CNV in patients with RE.

Neuroinflammation-Related Encephalopathy in an Infant Born Preterm Following Exposure to Maternal Diabetic Ketoacidosis.

A pregnant woman with new-onset type 1 diabetes and ketoacidosis delivered an infant at 28 weeks of gestation who died with multiple organ failure and severe cerebral vasculopathy with extensive hemorrhage, diffuse microgliosis, and edema. This illustrates that antenatal metabolic and inflammatory stressors may be associated with neonatal encephalopathy and cerebral hemorrhage.

Adverse Structural and Functional Effects of Marijuana on the Brain: Evidence Reviewed.

The growing use and legalization of cannabis are leading to increased exposures across all age groups, including in adolescence. The touting of its medicinal values stems from anecdotal reports related to treatment of a broad range of illnesses including epilepsy, multiple sclerosis, muscle spasms, arthritis, obesity, cancer, Alzheimer disease, Parkinson disease, post-traumatic stress, inflammatory bowel disease, and anxiety. However, anecdotal data and the high level of interest in this treatment must not obscure objective assessments of any potential and realized short- and long-term adverse effects of cannabis, particularly with respect to age of onset and chronicity of exposure.

A microRNA-328 binding site in PAX6 is associated with centrotemporal spikes of rolandic epilepsy.

Objective: Rolandic epilepsy is a common genetic focal epilepsy of childhood characterized by centrotemporal sharp waves on electroencephalogram. In previous genome-wide analysis, we had reported linkage of centrotemporal sharp waves to chromosome 11p13, and fine mapping with 44 SNPs identified the ELP4-PAX6 locus in two independent US and Canadian case-control samples. Here, we aimed to find a causative variant for centrotemporal sharp waves using a larger sample and higher resolution genotyping array.

Risk factors for reading disability in families with rolandic epilepsy.

Objective: The high prevalence and impact of neurodevelopmental comorbidities in childhood epilepsy are now well known, as are the increased risks and familial aggregation of reading disability (RD) and speech sound disorder (SSD) in rolandic epilepsy (RE). The risk factors for RD in the general population include male sex, SSD, and ADHD, but it is not known if these are the same in RE or whether there is a contributory role of seizure and treatment-related variables.

Methods: An observational study of 108 probands with RE (age range: 3.

Evidence for linkage of migraine in Rolandic epilepsy to known 1q23 FHM2 and novel 17q22 genetic loci.

Migraine headaches are a common comorbidity in Rolandic epilepsy (RE) and familial aggregation of migraine in RE families suggests a genetic basis not mediated by seizures. We performed a genome-wide linkage analysis of the migraine phenotype in 38 families with RE to localize potential genetic contribution, with a follow-up in an additional 21 families at linked loci. We used two-point and multipoint LOD (logarithm of the odds) score methods for linkage, maximized over genetic models.

The genetics of reading disability in an often excluded sample: novel loci suggested for reading disability in Rolandic epilepsy.

Background: Reading disability (RD) is a common neurodevelopmental disorder with genetic basis established in families segregating "pure" dyslexia. RD commonly occurs in neurodevelopmental disorders including Rolandic Epilepsy (RE), a complex genetic disorder. We performed genomewide linkage analysis of RD in RE families, testing the hypotheses that RD in RE families is genetically heterogenenous to pure dyslexia, and shares genetic influences with other sub-phenotypes of RE.

Association of head circumference and shoulder dystocia in macrosomic neonates.

To determine whether asymmetric macrosomia (disproportionately large body size in comparison to head circumference) could be demonstrated in a population of infants suffering shoulder dystocia during delivery relative to those that did not suffer from shoulder dystocia. A case-control study was conducted as a retrospective chart review over 3 years at a large maternity hospital in an urban setting. Among infants over 4,000 g, those that suffered from shoulder dystocia during delivery had a smaller mean head circumference than infants of a similar size that did not suffer from shoulder dystocia.

Myoclonic astatic epilepsy and the role of the ketogenic diet.

The ketogenic diet remains one of the most effective treatments for medically refractory childhood epilepsy. In spite of the long history of its use, relatively little is known about the mechanism of action. The diet's efficacy in a wide range of epilepsy syndromes suggests that it may have multiple mechanisms of action, each of which may be more relevant to a specific disease state.

Polyspike and waves do not predict generalized tonic-clonic seizures in childhood absence epilepsy.

About 40% of children with childhood absence epilepsy develop generalized tonic-clonic seizures. It is commonly held that polyspike-wave pattern on the electroencephalogram (EEG) can predict this development of generalized tonic-clonic seizures. However, there is no firm evidence in support of this proposition.

Impact of antiepileptic drugs on cognition, behavior, and motor skills in children with new-onset, idiopathic epilepsy.

Objective: As treatment options for epilepsy have increased, there has been a commensurate increase in interest in the side effect profiles of these drugs.

Methods: In this study, children between the ages of 6 and 17 with a diagnosis of new-onset, idiopathic epilepsy were evaluated at baseline (n=57) and 6 (n=45) and 12 (n=31) months after initiation of antiepileptic drug therapy.

Results: There was improvement in the cognitive functioning of children after 12 months of treatment.

Baseline cognition, behavior, and motor skills in children with new-onset, idiopathic epilepsy.

Aim: Epilepsy is associated with difficulties in cognition and behavior in children. These problems have been attributed to genetics, ongoing seizures, psychosocial issues, underlying abnormality of the brain, and/or antiepileptic drugs. In a previous study, we found baseline cognitive differences between children with partial versus generalized and convulsive versus non-convulsive seizures.

Ischemic stroke and rhabdomyolysis in a 15-year-old girl with paraganglioma due to an SDHB exon 6 (Q214X) mutation.

Background: We report a 15-year-old girl with a recent diagnosis of type 2 diabetes mellitus who presented in malignant hypertensive crisis (BP 210/120 mm Hg). Abdominal CT showed an 8.2 x 4.

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).

Rolandic epilepsy (RE) is the most common human epilepsy, affecting children between 3 and 12 years of age, boys more often than girls (3:2). Focal sharp waves in the centrotemporal area define the electroencephalographic (EEG) trait for the syndrome, are a feature of several related childhood epilepsies and are frequently observed in common developmental disorders (eg, speech dyspraxia, attention deficit hyperactivity disorder and developmental coordination disorder). Here we report the first genome-wide linkage scan in RE for the EEG trait, centrotemporal sharp waves (CTS), with genome-wide linkage of CTS to 11p13 (HLOD 4.

Sensorimotor performance in school-age children with autism, developmental language disorder, or low IQ.

The purpose of the study was to determine the prevalence of 'soft' motor deficits in school-aged children with either developmental language disorder (DLD), autism (with high IQ [HiAD] or low IQ [LoAD]), or low IQ without autism (LoIQ), and to evaluate the utility of a refined neurological examination to discriminate between these groups. A total of 242 children (74% male), aged 7 or 9 years, were evaluated as part of a longitudinal, multi-institutional study, with a standardized neurological examination that included Denckla's Physical and Neurological Examination for Soft Signs. Most of the scores separated children into two groups defined by nonverbal IQ, with the DLD and HiAD groups performing better than the LoAD and LoIQ groups.