Decreasing prevalence of cerebral palsy in birth cohorts in South Carolina using Medicaid, disability service, and hospital discharge data, 1996 to 2009.

Aim: Since cross-sectional trends of 8-year-old cerebral palsy (CP) birth prevalence based on record review were stable from 1985 to 2002 in Metropolitan Atlanta, we examined birth cohort trends using administrative data sets promptly.

Method: Among 755 433 live births from 1996 to 2009 in South Carolina, 2080 received CP diagnosis by age 4 years from linked Medicaid claims with International Classification of Diseases, Ninth Revision codes 343.X (contributing 1061 [51%] unique cases), hospital discharge data (57 [3%] unique cases), and Department of Disabilities and Special Needs program (64 [3%] unique cases).

Birth Settings and the Validation of Neonatal Seizures Recorded in Birth Certificates Compared to Medicaid Claims and Hospital Discharge Abstracts Among Live Births in South Carolina, 1996-2013.

Objective Neonatal seizures in the first 28 days of life often reflect underlying brain injury or abnormalities, and measure the quality of perinatal care in out-of-hospital births. Using the 2003 revision of birth certificates only, three studies reported more neonatal seizures recorded among home births ​or planned out-of-hospital births compared to hospital births. However, the validity of recording neonatal seizures or serious neurologic dysfunction across birth settings in birth certificates has not been evaluated.

Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature.

Purpose: This case report describes a toddler with a medical history of biotinidase deficiency who presented with atypical seizures due to a brain tumor.

Methods: This is a case report.

Results: Electroencephalogram revealed a frontal lobe mass, with magnetic resonance imaging confirmation of a mass extending from the frontal lobe into the genu and anterior corpus callosum.

Recording of Neonatal Seizures in Birth Certificates, Maternal Interviews, and Hospital Discharge Abstracts in a Cerebral Palsy Case-Control Study in Michigan.

We evaluated the recording of neonatal seizures in birth certificates, hospital discharge abstracts, and maternal interviews in 372 children, 198 of them with cerebral palsy, born in Michigan hospitals from 1993 to 2010. In birth certificates, we examined checkbox items "seizures" or "seizure or serious neurologic dysfunction"; in hospital discharge abstracts ICD-9-CM codes 779.0, 345.

Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease.

While decreased ATP production and redox imbalance are central to mitochondrial disease pathogenesis, efforts to develop effective treatments have been hampered by the lack of imaging markers of oxidative stress. In this study we wished to determine if Tc99m-HMPAO, a SPECT imaging marker of cerebral blood flow and glutathione/protein thiol content, could be used to monitor the effect(s) of EPI-743, an oral redox modulating, para-benzoquinone based therapeutic for mitochondrial disease. We hypothesized that treatment changes in HMPAO uptake would be inversely proportional to changes in oxidative stress within the brain and directly correlate to clinical response to EPI-743 therapy.

Initial experience in the treatment of inherited mitochondrial disease with EPI-743.

Inherited mitochondrial respiratory chain disorders are progressive, life-threatening conditions for which there are limited supportive treatment options and no approved drugs. Because of this unmet medical need, as well as the implication of mitochondrial dysfunction as a contributor to more common age-related and neurodegenerative disorders, mitochondrial diseases represent an important therapeutic target. Thirteen children and one adult with genetically-confirmed mitochondrial disease (polymerase γ deficiency, n=4; Leigh syndrome, n=4; MELAS, n=3; mtDNA deletion syndrome, n=2; Friedreich ataxia, n=1) at risk for progressing to end-of-life care within 90 days were treated with EPI-743, a novel para-benzoquinone therapeutic, in a subject controlled, open-label study.

Extrahippocampal gray matter loss and hippocampal deafferentation in patients with temporal lobe epilepsy.

Purpose: Medial temporal epilepsy (MTLE) is associated with extrahippocampal brain atrophy. The mechanisms underlying brain damage in MTLE are unknown. Seizures may lead to neuronal damage, but another possible explanation is deafferentation from loss of hippocampal connections.

Imaging, anatomical, and molecular analysis of callosal formation in the developing human fetal brain.

A complex set of axonal guidance mechanisms are utilized by axons to locate and innervate their targets. In the developing mouse forebrain, we previously described several midline glial populations as well as various guidance molecules that regulate the formation of the corpus callosum. Since agenesis of the corpus callosum is associated with over 50 different human congenital syndromes, we wanted to investigate whether these same mechanisms also operate during human callosal development.

The transcription factor gene Nfib is essential for both lung maturation and brain development.

The phylogenetically conserved nuclear factor I (NFI) gene family encodes site-specific transcription factors essential for the development of a number of organ systems. We showed previously that Nfia-deficient mice exhibit agenesis of the corpus callosum and other forebrain defects, whereas Nfic-deficient mice have agenesis of molar tooth roots and severe incisor defects. Here we show that Nfib-deficient mice possess unique defects in lung maturation and exhibit callosal agenesis and forebrain defects that are similar to, but more severe than, those seen in Nfia-deficient animals.

White matter imaging in holoprosencephaly in children.

Purpose Of Review: Holoprosencephaly is a disorder of forebrain development characterized by a failure of the brain to separate into two hemispheres during early development. It is now clear that many cases of holoprosencephaly are caused by alterations in the genetic programmes that pattern the nervous system. Less is known about how a holoprosencephalic brain either forms or fails to form connections between various brain structures.

Holoprosencephaly in children: diffusion tensor MR imaging of white matter tracts of the brainstem--initial experience.

Purpose: To evaluate the dimensions of specific white matter tracts in the brainstems (region of brain thought to be least affected) of children with holoprosencephaly by using diffusion tensor magnetic resonance (MR) imaging and to correlate these abnormalities with forebrain malformation severity and neurologic deficit severity.

Materials And Methods: Thirteen patients with holoprosencephaly underwent diffusion tensor MR imaging, with which white matter color maps were generated. Type of holoprosencephaly was correlated with presence or absence of specific brainstem white matter tracts.

The middle interhemispheric variant of holoprosencephaly.

Background And Purpose: The middle interhemispheric variant of holoprosencephaly (MIH) is a rare malformation in which the cerebral hemispheres fail to divide in the posterior frontal and parietal regions. We herein describe the structural abnormalities of the brain in a large group of patients with MIH, compare these features with those of classic holoprosencephaly (HPE), and propose a developmental mechanism, based on current knowledge of developmental neurogenetics, by which MIH develops.

Methods: Brain images obtained in 21 patients with MIH (MR images in 16 patients and high-quality X-ray CT scans in five patients) were retrospectively reviewed to classify cerebral abnormalities.