UM Medicine launches treatment centers for adult neurodevelopmental issues

(University of Maryland School of Medicine) The University of Maryland School of Medicine (UMSOM), University of Maryland Medical Center (UMMC), and the Tuberous Sclerosis Alliance (TS Alliance) have joined together to launch first-of-a-kind centers in Maryland to treat adults with neurodevelopmental disabilities, such as autism.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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AbstractCHD8, which encodes Chromodomain helicase DNA-binding protein 8, is one of a few well-established Autism Spectrum Disorder (ASD) genes. Over 60 mutations have been reported in subjects with variable phenotypes, but little is known concerning genotype –phenotype correlations. We have identified four novel de novo mutations in Chinese subjects: two nonsense variants (c.3562C>T/p.Arg1188X, c.2065C>A/p.Glu689X), a splice site variant (c.4818-1G>A) and a missense variant (c.3502T>A/p.Tyr1168Asn). Three of these were identified from a 445-member ASD cohort by ASD gene panel sequencing of the 96 subjects...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
ConclusionsDifferent types of glial cells have both cell autonomous effects and interactions with neurons and other cells that are involved in the pathophysiology of the neurological phenotype of TSC. Targeting glial-mediated mechanisms may represent a novel therapeutic approach for epilepsy and TAND in TSC patients.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data. PMID: 31443616 [PubMed - as supplied by publisher]
Source: Postgraduate Medicine - Category: Internal Medicine Tags: Postgrad Med Source Type: research
Discussion “Macrocephaly is defined as [an occipitofrontal circumference or head circumference, OFC ] of> 2 standard deviations above the mean or above the 97th percentage for a given age, and gender, or when serial measurement shows progressive enlargement, crossing of one or more major percentiles, or when there is an increase in OFC> 2 cm/month in the first 6 months of life.” Megalencephaly is enlargement of the brain parenchyma. The OFC should be measured using a non-elastic tape which surrounds the head along the line of the glabella and posterior occipital protrusion. There are ethnic differences f...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Novel Contribution of Secreted Amyloid-β Precursor Protein to White Matter Brain Enlargement in Autism Spectrum Disorder Deborah K. Sokol1, Bryan Maloney2, Cara J. Westmark3 and Debomoy K. Lahiri2,4* 1Pediatrics Section, Department of Neurology, Indiana University School of Medicine, Indianapolis, IN, United States2Indiana Alzheimers Disease Center, Department of Psychiatry, Stark Neuroscience Research Institute, Indiana University School of Medicine, Indianapolis, IN, United States3Department of Neurology, University of Wisconsin, Madison, WI, United States4Department of Medical and Molecular Genetics, Indiana Un...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Tuberous sclerosis complex (TSC) is a neurogenetic disorder associated with epilepsy, intellectual disabilities, and autistic behaviors. These neurological symptoms result from synaptic dysregulations, which s...
Source: Molecular Brain - Category: Neuroscience Authors: Tags: Research Source Type: research
[´╗┐Neuropsychiatric manifestations in Tuberous Sclerosis Complex (TSC): diagnostic guidelines, TAND concept and therapy with mTOR inhibitors´╗┐]. Z Kinder Jugendpsychiatr Psychother. 2018 Aug 06;:1-14 Authors: Waltereit R, Feucht M, de Vries MC, Huemer J, Roessner V, de Vries PJ Abstract Neuropsychiatric manifestations in Tuberous Sclerosis Complex (TSC): diagnostic guidelines, TAND concept and therapy with mTOR inhibitors Abstract. Tuberous sclerosis complex (TSC), albeit a rare autosomal-dominant multisystem disease with an incidence of 1:6,000, is one of the most important monogenetic disorders in ...
Source: Zeitschrift fur Kinder- und Jugendpsychiatrie und Psychotherapie - Category: Child Development Tags: Z Kinder Jugendpsychiatr Psychother Source Type: research
We report the molecular diagnosis of TSC in individuals exhibiting extreme intra-familial variability, including the incidental diagnosis of asymptomatic family members. Exome sequencing was performed in three families, with probands referred for epilepsy, autism, and absent speech (Family 1); epileptic spasms (Family 2); and connective tissue disorders (Family 3.) Pathogenic variants inTSC1 orTSC2 were identified in nine individuals, including relatives with limited or no medical concerns at the time of testing. Of the nine individuals reported here, six had post-diagnosis examinations and three met clinical diagnostic cr...
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research
In this study, a standardised questionnaire was administered across groups affording comparison of the prevalence and profile of sleep disturbance between groups and contrast to chronologically age-matched typically developing (TD) peers.MethodsThe modified version of Simonds and Parraga ’s sleep questionnaire, adapted for use in children with intellectual disabilities, was employed to assess sleep disturbance profiles in children aged 2–15 years with SMS (n = 26), AS (n = 70), ASD (n = 30), TSC (n = 20) and a TD contrast group (n = 47)....
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
Authors: Curatolo P, Moavero R, van Scheppingen J, Aronica E Abstract INTRODUCTION: The mammalian target of rapamycin (mTOR) pathway has emerged as a key player for proper neural network development, and it is involved in epileptogenesis triggered by both genetic or acquired factors. Areas covered. The robust mTOR signaling deregulation observed in a large spectrum of epileptogenic developmental pathologies, such as focal cortical dysplasias and tuberous sclerosis complex (TSC), has been linked to germline and somatic mutations in mTOR pathway regulatory genes, increasing the spectrum of "mTORopathies". The ...
Source: Expert Review of Neurotherapeutics - Category: Neurology Tags: Expert Rev Neurother Source Type: research
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