Access to specialty care in autism spectrum disorders-a pilot study of referral source

<p>Abstract</p> <p>Background</p> <p>In the United States, a medical home model has been shown to improve the outcomes for children with special health care needs. As part of this model, primary care physicians provide comprehensive medical care that includes identification of delayed and/or atypical development in children and coordination of care with specialists. However, it is not clear if families of children with Autism Spectrum Disorder (ASD) rely on the medical home model for care of their child to the same extent as families of children with other special health care needs. This study aims to add to the understanding of medical care for children with ASD by examining the referral source for specialty care.</p> <p>Methods</p> <p>This retrospective study was accomplished by evaluating parent completed intake data for children with ASD compared to those with other neurological disorders in a single physician Pediatric Neurology Practice at a major urban medical center in Northern New Jersey. To account for referral bias, a similar comparison study was conducted using a multispecialty ASD practice at the same medical center. Parent reported "source of referral" and "reason for the referral" of 189 ASD children and 108 non-ASD neurological disordered children were analyzed.</p> <p>Results</p> <p>The specialty evaluations of ASD were predominantly parent initiated. There were significantly less referrals received from primary care physicians for children with ASD compared to children with other neurodevelopmental disorders. Requirement of an insurance referral was not associated with a primary care physician prompted specialty visit.We identified different patterns of referral to our specialty clinics for children with ASD vs. children with other neurolodevelopmental disorders.</p> <p>Conclusion</p> <p>The majority of the families of children with ASD evaluated at our autism center did not indicate that a primary care physician initiated the specialty referral. This study suggests that families of children with ASD interface differently with the primary care provider than families of children with other neurological disorders.</p

One carbon metabolism disturbances and the C677T MTHFR gene polymorphism in children with autism spectrum disorders

Autism spectrum disorders (ASDs), which include the prototypic autistic disorder (AD), Asperger’s syndrome (AS) and pervasive developmental disorders not otherwise specified (PDD-NOS), are complex neurodevelopmental conditions of unknown aetiology. The current study investigated the metabolites in the methionine cycle, the transsulphuration pathway, folate, vitamin B 12 and the C677T polymorphism of the MTHFR gene in three groups of children diagnosed with AD ( n = 15), AS ( n = 5) and PDD-NOS ( n = 19) and their age- and sex-matched controls ( n = 25). No metabolic disturbances were seen in the AS patients, while in the AD and PDD-NOS groups, lower plasma levels of methionine ( P = 0.01 and P = 0.03, respectively) and Α-aminobutyrate were observed ( P = 0.01 and P = 0.001, respectively). Only in the AD group, plasma cysteine ( P = 0.02) and total blood glutathione ( P = 0.02) were found to be reduced. Although there was a trend towards lower levels of serine, glycine, N, N-dimethylglycine in AD patients, the plasma levels of these metabolites as well as the levels of homocysteine and cystathionine were not statistically different in any of the ASDs groups. The serum levels of vitamin B 12 and folate were in the normal range. The results of the MTHFR gene analysis showed a normal distribution of the C677T polymorphism in children with ASDs, but the frequency of the 677T allele was slightly more prevalent in AD patients. Our study indicates a possible role for the alterations in one carbon metabolism in the pathophysiology of ASDs and provides, for the first time, preliminary evidence for metabolic and genetic differences between clinical subtypes of ASDs.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/73924/1/j.1582-4934.2008.00463.x.pd

C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism

<p>Abstract</p> <p>Background</p> <p>Research indicates that the etiology of autism has a strong genetic component, yet so far the search for genes that contribute to the disorder, including several whole genome scans, has led to few consistent findings. However, three studies indicate that the complement <it>C4B </it>gene null allele (i.e. the missing or nonfunctional <it>C4B </it>gene) is significantly more frequent in individuals with autism. Due to the close proximity of the <it>CYP21A2 </it>gene to the <it>C4B </it>locus (3 kb) it was decided to examine samples from autistic subjects, including many with known <it>C4B </it>null alleles for common <it>CYP21A2 </it>mutations.</p> <p>Methods</p> <p>Samples from subjects diagnosed with autism and non-autistic controls (controls) previously typed for <it>C4B </it>null alleles were studied. Allele specific polymerase chain reaction (PCR) methods were used to determine 8 of the most common <it>CYP21A2 </it>genetic mutations, known to completely or partially inhibit 21-hydroxylase, the enzyme encoded by the <it>CYP21A2 </it>gene.</p> <p>Results</p> <p>Although the combined autism and control study subjects had 50 <it>C4B </it>null alleles only 15 <it>CYP21A2 </it>mutations were detected in over 2250 genotypes. Eight mutations were detected in the autistic samples and 7 in the controls. The frequency of <it>CYP21A2 </it>mutations was similar between the autism and control samples. Only one individual (autistic) carried a chromosome containing both <it>C4B </it>null allele and <it>CYP21A2 </it>mutations.</p

An ontology-based segmentation scheme for tracking postnatal changes in the developing rodent brain with MRI

The postnatal period of neurodevelopment has been implicated in a number of brain disorders including autism and schizophrenia. Rodent models have proven to be invaluable in advancing our understanding of the human brain, and will almost certainly play a pivotal role in future studies on postnatal neurodevelopment. The growing field of magnetic resonance microscopy has the potential to revolutionize our understanding of neurodevelopment, if it can be successfully and appropriately assimilated into the vast body of existing neuroscience research. In this study, we demonstrate the utility of a developmental neuro-ontology designed specifically for tracking regional changes in MR biomarkers throughout postnatal neurodevelopment. Using this ontological classification as a segmentation guide, we track regional changes in brain volume in rats between postnatal day zero and postnatal day 80 and demonstrate differential growth rates in axial versus paraxial brain regions. Both the ontology and the associated label volumes are provided as a foundation for future MR-based studies of postnatal neurodevelopment in normal and disease states

A novel blood-based biomarker for detection of autism spectrum disorders

Autism spectrum disorders (ASD) are classified as neurological developmental disorders. Several studies have been carried out to find a candidate biomarker linked to the development of these disorders, but up to date no reliable biomarker is available. Mass spectrometry techniques have been used for protein profiling of blood plasma of children with such disorders in order to identify proteins/peptides that may be used as biomarkers for detection of the disorders. Three differentially expressed peptides with mass–charge (m/z) values of 2020±1, 1864±1 and 1978±1 Da in the heparin plasma of children with ASD that were significantly changed as compared with the peptide pattern of the non-ASD control group are reported here. This novel set of biomarkers allows for a reliable blood-based diagnostic tool that may be used in diagnosis and potentially, in prognosis of ASD

A high-performance 8 nV/root Hz 8-channel wearable and wireless system for real-time monitoring of bioelectrical signals

Background: It is widely accepted by the scientific community that bioelectrical signals, which can be used for the identification of neurophysiological biomarkers indicative of a diseased or pathological state, could direct patient treatment towards more effective therapeutic strategies. However, the design and realisation of an instrument that can precisely record weak bioelectrical signals in the presence of strong interference stemming from a noisy clinical environment is one of the most difficult challenges associated with the strategy of monitoring bioelectrical signals for diagnostic purposes. Moreover, since patients often have to cope with the problem of limited mobility being connected to bulky and mains-powered instruments, there is a growing demand for small-sized, high-performance and ambulatory biopotential acquisition systems in the Intensive Care Unit (ICU) and in High-dependency wards. Finally, to the best of our knowledge, there are no commercial, small, battery-powered, wearable and wireless recording-only instruments that claim the capability of recording electrocorticographic (ECoG) signals. Methods: To address this problem, we designed and developed a low-noise (8 nV/√Hz), eight-channel, battery-powered, wearable and wireless instrument (55 × 80 mm2). The performance of the realised instrument was assessed by conducting both ex vivo and in vivo experiments. Results: To provide ex vivo proof-of-function, a wide variety of high-quality bioelectrical signal recordings are reported, including electroencephalographic (EEG), electromyographic (EMG), electrocardiographic (ECG), acceleration signals, and muscle fasciculations. Low-noise in vivo recordings of weak local field potentials (LFPs), which were wirelessly acquired in real time using segmented deep brain stimulation (DBS) electrodes implanted in the thalamus of a non-human primate, are also presented. Conclusions: The combination of desirable features and capabilities of this instrument, namely its small size (~one business card), its enhanced recording capabilities, its increased processing capabilities, its manufacturability (since it was designed using discrete off-the-shelf components), the wide bandwidth it offers (0.5 – 500 Hz) and the plurality of bioelectrical signals it can precisely record, render it a versatile and reliable tool to be utilized in a wide range of applications and environments

Sex and gender differences in autism spectrum disorder: summarizing evidence gaps and identifying emerging areas of priority

One of the most consistent findings in autism spectrum disorder (ASD) research is a higher rate of ASD diagnosis in males than females. Despite this, remarkably little research has focused on the reasons for this disparity. Better understanding of this sex difference could lead to major advancements in the prevention or treatment of ASD in both males and females. In October of 2014, Autism Speaks and the Autism Science Foundation co-organized a meeting that brought together almost 60 clinicians, researchers, parents, and self-identified autistic individuals. Discussion at the meeting is summarized here with recommendations on directions of future research endeavors. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s13229-015-0019-y) contains supplementary material, which is available to authorized users

Prevalence of the autism spectrum disorders (ASDs) in multiple areas of the United States, 2000 and 2002: community report

"The number of children with Autism Spectrum Disorders (ASDs) has risen over the past decade, but it is unclear whether the increase is due to changes in diagnosis or to a true increase in cases. The causes and risk factors for ASDs are also unclear. To get a better picture of the scope of ASDs in this country, the Centers for Disease Control and Prevention (CDC) has established the Autism and Developmental Disabilities Monitoring (ADDM) Network. The network is working to gain accurate counts of children with ASDs, to identify differences in how ASDs affect various subgroups, and to characterize the ASD population. This report summarizes the findings from the first years of the ADDM Network's program." - p. 1What Are Autism Spectrum Disorders (ASDs)? -- How Many People Have an Autism Spectrum Disorder? -- What is the ADDM Network? -- What Are The Results? -- State by State -- Summary -- What Else Do I Need To Know? -- Where Can I Get More Information?from the Autism and Developmental Disabilities Monitoring Network ; funded by the Centers for Disease Control and Prevention, US Department of Health and Human Services.Includes bibliographical references (p. 39-41)