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https://www.readbyqxmd.com/read/28089766/males-with-mecp2-c-terminal-related-atypical-rett-syndromes-and-their-carrier-mothers
#1
Gabriel M Ronen, Lauren I Brady, Mark A Tarnopolsky
BACKGROUND: This communication examines the expanding phenotypes of the MECP2 C-terminal atypical Rett syndromes in males and their affected carrier mothers. DESCRIPTIONS: We describe three males with normal karyotypes who presented with congenital evolving complex neurodevelopmental encephalopathies with multifaceted symptomatology of hypotonia, epilepsy, ataxia, spasticity, movement disorders, behavioral issues, severe intellectual impairment, and communication skills, and a protracted regression phase followed by stabilization...
October 25, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28089432/daily-living-pain-assessment-in-children-with-autism-exploratory-study
#2
A Dubois, C Michelon, C Rattaz, M Zabalia, A Baghdadli
This study aims to broaden knowledge about pain expression and assessment in daily life situations in children with Autism Spectrum Disorder (ASD). The goals are to provide a description of the responses of the GED-DI, the French version of the NCCPC, and to test the internal structure validity of this scale. Thirty five children with ASD were included in this study (mean age=58months; mean developmental age=32months). The French version of the NCCPC was filled in by parents. Descriptive analysis of responses shows that children with ASD express pain through varied and common behaviours, related to different expressive markers (vocal, facial, activity, etc...
January 12, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28088900/synaptic-plasticity-dementia-and-alzheimer-disease
#3
Pietro Giusti, Stephen D Skaper, Laura Facci, Morena Zusso
Neuroplasticity is not only shaped by learning and memory but is also a mediator of responses to neuron attrition and injury (compensatory plasticity). As an ongoing process it reacts to neuronal cell activity and injury, death, and genesis, which encompasses the modulation of structural and functional processes of axons, dendrites, and synapses. The range of structural elements that comprise plasticity includes long-term potentiation (a cellular correlate of learning and memory), synaptic efficacy and remodelling, synaptogenesis, axonal sprouting and dendritic remodelling, and neurogenesis and recruitment...
January 13, 2017: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/28088873/developmental-changes-in-ultradian-sleep-cycles-across-early-childhood
#4
Sean Lopp, William Navidi, Peter Achermann, Monique LeBourgeois, Cecilia Diniz Behn
Nocturnal human sleep is composed of cycles between rapid eye movement (REM) sleep and non-REM (NREM) sleep. In adults, the structure of ultradian cycles between NREM and REM sleep is well characterized; however, less is known about the developmental trajectories of ultradian sleep cycles across early childhood. Cross-sectional studies indicate that the rapid ultradian cycling of active-quiet sleep in infancy shifts to a more adult-like pattern of NREM-REM sleep cycling by the school-age years, yet longitudinal studies elucidating the details of this transition are scarce...
January 1, 2017: Journal of Biological Rhythms
https://www.readbyqxmd.com/read/28087836/neuropathological-consequences-of-gestational-exposure-to-concentrated-ambient-fine-and-ultrafine-particles-in-the-mouse
#5
Carolyn Klocke, Joshua L Allen, Marissa Sobolewski, Margot Mayer-Pröschel, Jason L Blum, Dana Lauterstein, Judith T Zelikoff, Deborah A Cory-Slechta
Increasing evidence indicates that the central nervous system (CNS) is a target of air pollution. We previously reported that postnatal exposure of mice to concentrated ambient ultrafine particles (UFP; ≤100nm) via the University of Rochester HUCAPS system during a critical developmental window of CNS development, equivalent to human 3(rd) trimester, produced male-predominant neuropathological and behavioral characteristics common to multiple neurodevelopmental disorders, including autism spectrum disorder (ASD), in humans...
January 13, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#6
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087714/dlg5-connects-cell-polarity-and-hippo-signaling-protein-networks-by-linking-par-1-with-mst1-2
#7
Julian Kwan, Anna Sczaniecka, Emad Heidary Arash, Liem Nguyen, Chia-Chun Chen, Srdjana Ratkovic, Olga Klezovitch, Liliana Attisano, Helen McNeill, Andrew Emili, Valeri Vasioukhin
Disruption of apical-basal polarity is implicated in developmental disorders and cancer; however, the mechanisms connecting cell polarity proteins with intracellular signaling pathways are largely unknown. We determined previously that membrane-associated guanylate kinase (MAGUK) protein discs large homolog 5 (DLG5) functions in cell polarity and regulates cellular proliferation and differentiation via undefined mechanisms. We report here that DLG5 functions as an evolutionarily conserved scaffold and negative regulator of Hippo signaling, which controls organ size through the modulation of cell proliferation and differentiation...
December 15, 2016: Genes & Development
https://www.readbyqxmd.com/read/28086757/a-combination-of-genetic-and-biochemical-analyses-for-the-diagnosis-of-pi3k-akt-mtor-pathway-associated-megalencephaly
#8
Yutaka Negishi, Fuyuki Miya, Ayako Hattori, Yoshikazu Johmura, Motoo Nakagawa, Naoki Ando, Ikumi Hori, Takao Togawa, Kohei Aoyama, Kei Ohashi, Shinobu Fukumura, Seiji Mizuno, Ayako Umemura, Yoko Kishimoto, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki, Makoto Nakanishi, Shinji Saitoh
BACKGROUND: Constitutive activation of the PI3K-AKT-mTOR pathway (mTOR pathway) underlies megalencephaly in many patients. Yet, prevalence of the involvement of the PI3K-AKT-mTOR pathway in patients with megalencephaly remains to be elucidated, and molecular diagnosis is challenging. Here, we have successfully established a combination of genetic and biochemical methods for diagnosis of mTOR pathway-associated megalencephaly, and have attempted to delineate the clinical characteristics of the disorder...
January 13, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28081516/autism-does-not-limit-strategic-thinking-in-the-beauty-contest-game
#9
Peter C Pantelis, Daniel P Kennedy
A popular hypothesis in developmental psychology is that individuals with autism spectrum disorder (ASD) have a specific impairment or developmental delay in their ability to reason about other people's mental processes, especially when this reasoning process is of a higher-order, recursive, or nested variety. One type of interpersonal interaction that involves this sort of complex reasoning about others' minds is an economic game, and because economic games have been extensively modeled in behavioral economics, they provide a unique testbed for a quantitative and precise analysis of cognitive functioning in ASD...
January 9, 2017: Cognition
https://www.readbyqxmd.com/read/28079674/borderline-intellectual-functioning-an-update
#10
Stephen Greenspan
PURPOSE OF REVIEW: Borderline intellectual functioning (BIF) is a descriptive v-code that is often used, especially in forensic settings, as if it were a full-fledged disorder. Various historical and other aspects of this classification are reviewed, and commentary is made on the question of whether to upgrade BIF to a regular psychiatric category, or to eliminate it by folding it into an already recently expanded category of intellectual developmental disorder (IDD). RECENT FINDINGS: Full-scale intelligence quotient (IQ) is an outmoded concept that is decreasingly being used...
January 12, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28077841/pars2-and-nars2-mutations-in-infantile-onset-neurodegenerative-disorder
#11
Takeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Keitaro Yamada, Tohru Okanishi, Nina Ekhilevitch, Hanna Mandel, Ayelet Eran, Miyuki Toyono, Yukio Sawaishi, Hirotaka Motoi, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto
Here we present four unrelated families with six individuals that have infantile-onset developmental delay/regression and epilepsy. Whole-exome sequencing revealed compound heterozygous mutations, c.[283G>A];[607G>A] in a gene encoding prolyl-tRNA synthetase (PARS2) in one family. Two pairs of compound heterozygous mutations, c.[151C>T];[1184T>G] and c.[707T>G];[594+1G>A], and a homozygous mutation, c.[500A>G];[500A>G], in a gene encoding asparaginyl-tRNA synthetase (NARS2) were also identified in the other three families...
January 12, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28077157/clinical-biochemical-and-molecular-characteristics-of-filipino-patients-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#12
Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28076638/the-future-of-psychiatric-research
#13
Marco Antonio Caldieraro
Psychiatric disorders place considerable burden on individuals and on public health. Funding for research in psychiatry is less than ideal, but even so high quality research is being conducted at many centers. However, these studies have not impacted clinical practice as much as expected. The complexity of psychiatric disorders is one of the reasons why we face difficulties in translating research results to patient care. New technologies and improved methodologies are now available and must be incorporated to deal with this complexity and to accelerate the translational process...
October 2016: Trends in Psychiatry and Psychotherapy
https://www.readbyqxmd.com/read/28075089/autism-spectrum-disorder-primary-care-principles
#14
Kristian E Sanchack, Craig A Thomas
Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills...
December 15, 2016: American Family Physician
https://www.readbyqxmd.com/read/28074354/parent-reported-developmental-regression-in-autism-epilepsy-iq-schizophrenia-spectrum-symptoms-and-special-education
#15
Kenneth D Gadow, Greg Perlman, Rebecca J Weber
Examined the psychiatric and clinical correlates of loss of previously acquired skills (regression) as reported by parents of youth with autism spectrum disorder (ASD). Study sample comprised 6- to 18-year old (N = 213) children and adolescents with ASD. Parents reported regression in 77 (36%) youth. A more homogeneous subgroup with regression between 18 and 36 months (n = 48) had higher rates of intellectual disability, epilepsy, and special education, more socially restrictive educational settings, and more severe ASD communication deficits and schizophrenia spectrum symptoms than non-regressed youth (n = 136)...
January 10, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28074353/language-skills-of-males-with-fragile-x-syndrome-or-nonsyndromic-autism-spectrum-disorder
#16
Angela John Thurman, Andrea McDuffie, Randi J Hagerman, Cynde K Josol, Leonard Abbeduto
Despite the similarities observed between the fragile X syndrome (FXS) and autism spectrum disorder (ASD) phenotypes, few studies have compared their behavioral profiles outside of ASD symptomatology. In the present study, we sought to compare lexical and grammatical abilities in these two conditions. Comparisons of language abilities in both of these conditions are particularly interesting because both conditions are characterized by difficulties navigating social interactions. Results suggest that although both FXS and ASD are associated with language difficulties, there are important differences between the two conditions in terms of the language profiles observed and the factors influencing language when considering children of similar developmental levels...
January 10, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28072877/motor-cortex-theta-and-gamma-architecture-in-young-adult-appsweps1de9-alzheimer-mice
#17
Anna Papazoglou, Julien Soos, Andreas Lundt, Carola Wormuth, Varun Raj Ginde, Ralf Müller, Christina Henseler, Karl Broich, Kan Xie, Britta Haenisch, Dan Ehninger, Marco Weiergräber
Alzheimer's disease (AD) is a multifactorial disorder leading to progressive memory loss and eventually death. In this study, an APPswePS1dE9 AD mouse model has been analyzed for motor cortex theta, beta and gamma frequency alterations using computerized 3D stereotaxic electrode positioning and implantable video-EEG radiotelemetry to perform long-term M1 recordings from both genders considering age, circadian rhythm and activity status of experimental animals. We previously demonstrated that APPswePS1dE9 mice exibit complex alterations in hippocampal frequency power and another recent investigation reported a global increase of alpha, beta and gamma power in APPswePS1dE9 in females of 16-17 weeks of age...
2017: PloS One
https://www.readbyqxmd.com/read/28072620/fibrous-dysplasia-mimicking-malignancy-on-68ga-dotatate-pet-ct
#18
Georgios Z Papadakis, Corina Millo, Samira M Sadowski, Apostolos H Karantanas, Ulas Bagci, Nicholas J Patronas
Fibrous dysplasia of the bone is a developmental benign skeletal disorder characterized by replacement of normal bone and normal bone marrow with abnormal fibro-osseous tissue. We report on a case of a biopsy-proven fibrous dysplasia lesion in the left temporal bone, with intensely increased activity (SUVmax, 56.7) on Ga-DOTATATE PET/CT. The presented data indicate cell surface overexpression of somatostatin receptors by fibrous dysplastic cells and highlight the need of cautious management of Ga-DOTATATE-avid bone lesions, which could mimic malignancy especially in patients with history of neuroendocrine tumors...
January 9, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28072039/a-mother-s-borderline-personality-disorder-and-her-sensitivity-autonomy-support-hostility-fearful-disoriented-behavior-and-role-reversal-with-her-young-child
#19
Jenny Macfie, Gretchen Kurdziel, Rebecca M Mahan, Stephanie Kors
There is some evidence that maternal borderline personality disorder (BPD) adversely affects parenting in infancy, resulting in disorganized attachment, which longitudinally predicts BPD symptoms in adulthood. We examined parenting related to disorganized attachment beyond infancy in offspring of mothers with BPD, when parenting becomes a goal-corrected partnership. We observed puzzle solving in a low socioeconomic status (SES) sample of mothers with BPD and their children ages 4-7, n = 36, and normative comparisons, n = 34...
January 10, 2017: Journal of Personality Disorders
https://www.readbyqxmd.com/read/28071834/molecular-profiling-of-human-ips-derived-hypothalamic-neurons-provides-developmental-insights-to-genetic-loci-for-body-weight-regulation
#20
Li Yao, Yuanhang Liu, Zhifang Qiu, Satish Kumar, Joanne E Curran, John Blangero, Yidong Chen, Donna M Lehman
BACKGROUND/OBJECTIVES: Recent data suggests that common genetic risk for metabolic disorders such as obesity may be human-specific and exert effects through the central nervous system. To overcome the limitation of human tissue access for study, we have generated induced human pluripotent stem cell (hiPSC)-derived neuronal cultures which recapture many features of hypothalamic neurons within the arcuate nucleus. Here we have comprehensively characterized this model across development, benchmarked these neurons to in vivo events, and demonstrate a link between obesity risk variants and hypothalamic development...
January 10, 2017: Journal of Neuroendocrinology
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