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Developmental disorders

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https://www.readbyqxmd.com/read/28221363/premature-primary-tooth-eruption-in-cognitive-motor-delayed-adnp-mutated-children
#1
I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns, O Elpeleg, R F Kooy, S Bedrosian-Sermone
A major flaw in autism spectrum disorder (ASD) management is late diagnosis. Activity-dependent neuroprotective protein (ADNP) is a most frequent de novo mutated ASD-related gene. Functionally, ADNP protects nerve cells against electrical blockade. In mice, complete Adnp deficiency results in dysregulation of over 400 genes and failure to form a brain. Adnp haploinsufficiency results in cognitive and social deficiencies coupled to sex- and age-dependent deficits in the key microtubule and ion channel pathways...
February 21, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28221088/the-menstrual-cycle-response-and-developmental-affective-risk-model-a-multilevel-and-integrative-model-of-influence
#2
Jeff Kiesner
An integrative developmental model is presented in which menstrual cycle-related symptoms are hypothesized to result in a cascade of developmental challenges that contribute to increased affective symptoms among adolescent girls, and to long-term developmental sequelae. To provide the basis for this model a broad foundation is developed considering (a) psychological symptoms and disorders associated with reproductive events across the life span, and (b) the many and complicated effects that female reproductive steroids (estrogen & progesterone) have which trigger a variety of physical and psychological changes that are commonly associated with the menstrual cycle...
March 2017: Psychological Review
https://www.readbyqxmd.com/read/28220539/a-contiguous-gene-deletion-neighboring-twist1-identified-in-a-patient-with-saethre-chotzen-syndrome-associated-with-neurodevelopmental-delay-possible-contribution-of-hdac9
#3
Hiroko Shimbo, Tatsuki Oyoshi, Kenji Kurosawa
Saethre-Chotzen syndrome (SCS) is an autosomal dominant craniosynostotic disorder characterized by coronal synostosis, facial asymmetry, ptosis, and limb abnormalities. Haploinsufficiency of TWIST1, a basic helix-loop-helix transcription factor is responsible for SCS. Here, we report a 15-month-old male patient with typical clinical features of SCS in addition to developmental delay, which is a rare complication in SCS. He showed a de novo 0.9-Mb microdeletion in 7p21, in which TWIST1, NPMIP13, FERD3L, TWISTNB, and HDAC9 were included...
February 21, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28220408/guanidinoacetate-methyltransferase-activity-in-lymphocytes-for-a-fast-diagnosis
#4
Lisette M Berends, Eduard A Struys, Birthe Roos, Ulbe Holwerda, Erwin E W Jansen, Gajja S Salomons, Mirjam M C Wamelink
INTRODUCTION: Guanidinoacetate methyltransferase (GAMT) deficiency is an inborn error of metabolism (IEM), clinically characterized by intellectual disability, developmental delay, seizures, and movement disorders. Biochemical diagnosis of GAMT deficiency is based on the measurement of creatine and guanidinoacetate in urine, plasma, or CSF and is confirmed genetically by DNA analysis or by enzyme assay in lymphoblasts or fibroblasts. To obtain enough cells, these cells need to be cultured for at least 1 month...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28220358/potential-risk-factors-for-the-development-of-self-injurious-behavior-among-infants-at-risk-for-autism-spectrum-disorder
#5
Adele F Dimian, Kelly N Botteron, Stephen R Dager, Jed T Elison, Annette M Estes, John R Pruett, Robert T Schultz, Lonnie Zwaigenbaum, Joseph Piven, Jason J Wolff
Prevalence of self-injurious behavior (SIB) is as high as 50% among children with autism spectrum disorder (ASD). Identification of risk factors for the development of SIB is critical to early intervention and prevention. However, there is little empirical research utilizing a prospective design to identify early risk factors for SIB. The purpose of this study was to evaluate behavioral characteristics predicting SIB at age 2 years among 235 infants at high familial risk for ASD. Logistic regression results indicated that presence of SIB or proto-SIB and lower developmental functioning at age 12 months significantly predicted SIB at 24 months...
February 20, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28220259/mutations-in-kiaa0753-cause-joubert-syndrome-associated-with-growth-hormone-deficiency
#6
Joshi Stephen, Thierry Vilboux, Luhe Mian, Chulaluck Kuptanon, Courtney M Sinclair, Deniz Yildirimli, Dawn M Maynard, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C Mullikin, Marjan Huizing, William A Gahl, May Christine V Malicdan, Meral Gunay-Aygun
Joubert syndrome and related disorders (JSRD) are a heterogeneous group of ciliopathies defined based on the mid-hindbrain abnormalities that result in the characteristic "molar tooth sign" on brain imaging. The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. To date, more than 30 JSRD genes that encode proteins important for structure and/or function of cilia have been identified. Here, we present 2 siblings with Joubert syndrome associated with growth hormone deficiency...
February 20, 2017: Human Genetics
https://www.readbyqxmd.com/read/28220059/disturbance-in-maternal-environment-leads-to-abnormal-synaptic-instability-during-neuronal-circuitry-development
#7
REVIEW
Yusuke Hatanaka, Tomohiro Kabuta, Keiji Wada
Adverse maternal environment during gestation and lactation can have negative effects on the developing brain that persist into adulthood and result in behavioral impairment. Recent studies of human and animal models suggest epidemiological and experimental association between disturbances in maternal environments during brain development and the occurrence of neuropsychiatric disorders, including autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, anxiety, depression, and neurodegenerative diseases...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28219813/an-adverse-early-life-environment-can-enhance-stress-resilience-in-adulthood
#8
Sara Santarelli, Christoph Zimmermann, Georgia Kalideris, Sylvie L Lesuis, Janine Arloth, Andrés Uribe, Carine Dournes, Georgia Balsevich, Jakob Hartmann, Mercè Masana, Elisabeth B Binder, Dietmar Spengler, Mathias V Schmidt
Chronic stress is a major risk factor for depression. Interestingly, not all individuals develop psychopathology after chronic stress exposure. In contrast to the prevailing view that stress effects are cumulative and increase stress vulnerability throughout life, the match/mismatch hypothesis of psychiatric disorders. The match/mismatch hypothesis proposes that individuals who experience moderate levels of early life psychosocial stress can acquire resilience to renewed stress exposure later in life. Here, we have tested this hypothesis by comparing the developmental effects of 2 opposite early life conditions, when followed by 2 opposite adult environments...
February 7, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28219751/evidence-for-a-role-of-corticopetal-noradrenergic-systems-in-the-development-of-executive-function
#9
David J Mokler, Christine E Miller, Jill A McGaughy
Adolescence is a period during which many aspects of executive function are maturing. Much of the literature has focused on discrepancies between sub-cortical and cortical development that is hypothesized to lead to over-processing of reinforcement related stimuli unchecked by fully matured response inhibition. Specifically, maturation of sub-cortical dopaminergic systems that terminate in the nucleus accumbens has been suggested to occur prior to the full maturation of corticopetal dopaminergic systems. However, converging evidence supports the hypothesis that many aspects of cognitive control are critically linked to cortical noradrenergic systems, that the effectiveness of drugs used to treat disorders of executive function, e...
February 17, 2017: Neurobiology of Learning and Memory
https://www.readbyqxmd.com/read/28219280/disability-diversity-and-autism-philosophical-perspectives-on-health
#10
Lidia Ripamonti
This paper aims to explore the connection between health and developmental disorders, particularly in regard to the notion of 'neurodiversity', which considers high-functioning autism not as a lifelong disability but a neurological form within a diversity of human minds. In recent years, autistic activist movements have called for a more positive, humanizing, identity-first language when describing this condition, rejecting negative language such as 'disorder', 'deficit', and 'impairment', and instead describing autism as a way of being, part of one's personal identity, which does not always need to be cured...
April 2016: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/28217937/evidence-for-the-association-of-hashimoto-s-thyroiditis-with-psoriasis-a-cross-sectional-retrospective-study
#11
Tina Kiguradze, Finola M Bruins, Nicholas Guido, Tanya Bhattacharya, Alfred Rademaker, Aleksandra G Florek, Alba Posligua, Shatil Amin, Anne E Laumann, Dennis P West, Beatrice Nardone
BACKGROUND: Current information indicates that psoriasis is a metabolic disorder with systemic manifestations. Reports have revealed an association between psoriasis and several chronic autoimmune disorders. For one of these disorders, Hashimoto's thyroiditis (HT), there are scarce, and relatively unconfirmed, reports of an association with psoriasis. We sought to determine if such an association is detectable in a large medical record data repository. METHODS: We searched one institution's electronic medical record data repository from January 2010 to December 2013...
February 19, 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28217150/infantile-tremor-syndrome-a-review-and-critical-appraisal-of-its-etiology
#12
REVIEW
Jatinder Singh Goraya, Sukhjot Kaur
Infantile tremor syndrome (ITS) is defined by the tetrad of pallor, developmental delay/regression, skin pigmentation, and brown scanty scalp hair. Involuntary movements in the form of tremors supervene in the natural course of the illness in a significant number of cases. The disorder occurs in exclusively breast-fed infants of vegetarian mothers belonging to economically deprived sections of society. Most of the children eventually recover but are frequently left with long-term cognitive and language neurodeficits...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28215628/symmetric-multiquadrant-isolated-dentin-dysplasia-smidd-a-unique-presentation-mimicking-dentin-dysplasia-type-1b
#13
Hiba Qari, Harvey Kessler, Nagamani Narayana, Sundaralingam Premaraj
Dentin dysplasia (DD) is a rare developmental dentin disorder that causes root malformation. It is divided into radicular DD type 1 (DD-1) and coronal DD type 2 (DD-2). Recently, a new entity causing localized root malformation of permanent first molars that resembles DD-1b has been described as molar-incisor malformation (MIM). We report and compare 4 new cases that exhibit similar clinical, histologic, and radiographic features to the new entity, MIM. We believe MIM and our 4 cases to be the same entity, which is nonhereditary and, because of the isolated but bilaterally symmetric pattern of involvement, may be caused by a short-duration environmental insult that disrupts normal development/function of Hertwig's epithelial root sheath...
December 7, 2016: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28215296/neurotrophins-in-the-brain-interaction-with-alcohol-exposure-during-development
#14
K E Boschen, A Y Klintsova
Fetal alcohol spectrum disorders (FASDs) are a result of the teratogenic effects of alcohol on the developing fetus. Decades of research examining both individuals with FASDs and animal models of developmental alcohol exposure have revealed the devastating effects of alcohol on brain structure, function, behavior, and cognition. Neurotrophic factors have an important role in guiding normal brain development and cellular plasticity in the adult brain. This chapter reviews the current literature showing that alcohol exposure during the developmental period impacts neurotrophin production and proposes avenues through which alcohol exposure and neurotrophin action might interact...
2017: Vitamins and Hormones
https://www.readbyqxmd.com/read/28214260/autism-its-cultural-modulation-and-niche-construction-in-societies-reply-to-comments-on-implications-of-the-idea-of-neurodiversity-for-understanding-the-origins-of-developmental-disorders
#15
https://www.readbyqxmd.com/read/28214015/anomalous-network-architecture-of-the-resting-brain-in-children-who-stutter
#16
Soo-Eun Chang, Michael Angstadt, Ho Ming Chow, Andrew C Etchell, Emily O Garnett, Ai Leen Choo, Daniel Kessler, Robert C Welsh, Chandra Sripada
PURPOSE: We combined a large longitudinal neuroimaging dataset that includes children who do and do not stutter and a whole-brain network analysis in order to examine the intra- and inter-network connectivity changes associated with stuttering. Additionally, we asked whether whole brain connectivity patterns observed at the initial year of scanning could predict persistent stuttering in later years. METHODS: A total of 224 high-quality resting state fMRI scans collected from 84 children (42 stuttering, 42 controls) were entered into an independent component analysis (ICA), yielding a number of distinct network connectivity maps ("components") as well as expression scores for each component that quantified the degree to which it is expressed for each child...
January 25, 2017: Journal of Fluency Disorders
https://www.readbyqxmd.com/read/28213805/an-overview-of-autism-spectrum-disorder-heterogeneity-and-treatment-options
#17
REVIEW
Anne Masi, Marilena M DeMayo, Nicholas Glozier, Adam J Guastella
Since the documented observations of Kanner in 1943, there has been great debate about the diagnoses, the sub-types, and the diagnostic threshold that relates to what is now known as autism spectrum disorder (ASD). Reflecting this complicated history, there has been continual refinement from DSM-III with 'Infantile Autism' to the current DSM-V diagnosis. The disorder is now widely accepted as a complex, pervasive, heterogeneous condition with multiple etiologies, sub-types, and developmental trajectories. Diagnosis remains based on observation of atypical behaviors, with criteria of persistent deficits in social communication and restricted and repetitive patterns of behavior...
February 17, 2017: Neuroscience Bulletin
https://www.readbyqxmd.com/read/28213671/exome-analysis-of-smith-magenis-like-syndrome-cohort-identifies-de-novo-likely-pathogenic-variants
#18
Seth I Berger, Carla Ciccone, Karen L Simon, May Christine Malicdan, Thierry Vilboux, Charles Billington, Roxanne Fischer, Wendy J Introne, Andrea Gropman, Jan K Blancato, James C Mullikin, William A Gahl, Marjan Huizing, Ann C M Smith
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. We performed exome sequencing on 6 patients with SMS-like phenotypes but without chromosomal abnormalities or RAI1 variants. We identified pathogenic de novo variants in two cases, a nonsense variant in IQSEC2 and a missense variant in the SAND domain of DEAF1, and candidate de novo missense variants in an additional two cases...
February 17, 2017: Human Genetics
https://www.readbyqxmd.com/read/28213183/a-role-for-the-serotonin-reuptake-transporter-in-the-brain-and-intestinal-features-of-autism-spectrum-disorders-and-developmental-antidepressant-exposure
#19
REVIEW
Kara Gross Margolis
Many disease conditions considered CNS-predominant harbor significant intestinal comorbidities. Serotonin (5-HT) and the serotonin reuptake transporter (SERT) have increasingly been shown to play important roles in both brain and intestinal development and long-term function. 5-HT and SERT may thus modulate critical functions in the development and perpetuation of brain-gut axis disease. We discuss the potential roles of 5-HT and SERT in the brain and intestinal manifestations of autism spectrum disorders and developmental antidepressant exposure...
February 14, 2017: Journal of Chemical Neuroanatomy
https://www.readbyqxmd.com/read/28213129/cyclic-compressive-stress-induced-scinderin-regulates-progress-of-developmental-dysplasia-of-the-hip
#20
Cheng-Long Wang, Hui Wang, Fei Xiao, Chuan-Dong Wang, Guo-Li Hu, Jun-Feng Zhu, Chao Shen, Bin Zuo, Yi-Min Cui, De Li, Yuan-Gao, Xiao-Ling Zhang, Xiao-Dong Chen
Developmental dysplasia of the hip (DDH) is a common musculoskeletal disorder characterized by a mismatch between acetabulum and femoral head. Mechanical force plays an important role during the occurrence and development of abnormities in acetabulum and femoral head. In this study, we established a mechanical force model named cyclic compressive stress (Ccs). To analyze the effect of Ccs on DDH, we detected special genes in chondrocytes and osteoblasts. Results showed that Ccs downregulated chondrogenesis of ADTC5 in a concentration-dependent manner...
February 14, 2017: Biochemical and Biophysical Research Communications
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