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https://www.readbyqxmd.com/read/28538514/long-term-outcome-of-4-patients-with-transcobalamin-deficiency-caused-by-2-novel-tcn2-mutations
#1
Marwan Nashabat, Gustavo Maegawa, Peter H Nissen, Ebba Nexo, Hussain Al-Shamrani, Mohammed Al-Owain, Majid Alfadhel
Cobalamin (vitamin B12 [Cbl]) is an essential cofactor for many biochemical pathways. Transcobalamin (TC) is required to internalize Cbl into the cells through membrane receptor-mediated endocytosis. Cbl is then processed in the cytoplasm and mitochondria by complementation factors leading to its active metabolites; methylcobalamin and 5-deoxyadenosyl-cobalamin. Deficiency of TC results in an elevation in methylmalonic acid and homocysteine. Patients usually present with macrocytic anemia, pancytopenia, failure to thrive, gastrointestinal symptoms, and neurological dysfunction...
May 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28538046/general-pediatrician-staffed-behavioral-developmental-access-clinic-decreases-time-to-evaluation-of-early-childhood-developmental-disorders
#2
Meghan Harrison, Persephone Jones, Iman Sharif, Matthew D Di Guglielmo
OBJECTIVE: To describe and evaluate the effectiveness of a quality improvement project to decrease wait time to evaluation for children referred to Developmental Behavioral Pediatricians (DBPs). METHODS: The authors created a Behavioral/Developmental Access Clinic (BDAC) staffed by a general pediatrician (GP) and pediatric psychologist. Clinicians in the BDAC provided comprehensive developmental evaluations for children in a discrete age range (<5 yr old). We describe the establishment of the BDAC along with referrals, diagnoses, and recommended follow-up for patients seen by the GP...
May 22, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28534875/dose-dependent-social-cognitive-effects-of-intranasal-oxytocin-delivered-with-novel-breath-powered-device-in-adults-with-autism-spectrum-disorder-a-randomized-placebo-controlled-double-blind-crossover-trial
#3
D S Quintana, L T Westlye, S Hope, T Nærland, T Elvsåshagen, E Dørum, Ø Rustan, M Valstad, L Rezvaya, H Lishaugen, E Stensønes, S Yaqub, K T Smerud, R A Mahmoud, P G Djupesland, O A Andreassen
The neuropeptide oxytocin has shown promise as a treatment for symptoms of autism spectrum disorders (ASD). However, clinical research progress has been hampered by a poor understanding of oxytocin's dose-response and sub-optimal intranasal delivery methods. We examined two doses of oxytocin delivered using a novel Breath Powered intranasal delivery device designed to improve direct nose-to-brain activity in a double-blind, crossover, randomized, placebo-controlled trial. In a randomized sequence of single-dose sessions, 17 male adults with ASD received 8 international units (IU) oxytocin, 24IU oxytocin or placebo followed by four social-cognitive tasks...
May 23, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28534874/shifting-brain-inhibitory-balance-and-connectivity-of-the-prefrontal-cortex-of-adults-with-autism-spectrum-disorder
#4
L A Ajram, J Horder, M A Mendez, A Galanopoulos, L P Brennan, R H Wichers, D M Robertson, C M Murphy, J Zinkstok, G Ivin, M Heasman, D Meek, M D Tricklebank, G J Barker, D J Lythgoe, R A E Edden, S C Williams, D G M Murphy, G M McAlonan
Currently, there are no effective pharmacologic treatments for the core symptoms of autism spectrum disorder (ASD). There is, nevertheless, potential for progress. For example, recent evidence suggests that the excitatory (E) glutamate and inhibitory (I) GABA systems may be altered in ASD. However, no prior studies of ASD have examined the 'responsivity' of the E-I system to pharmacologic challenge; or whether E-I modulation alters abnormalities in functional connectivity of brain regions implicated in the disorder...
May 23, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28534237/the-buffet-program-development-of-a-cognitive-behavioral-treatment-for-selective-eating-in-youth-with-autism-spectrum-disorder
#5
REVIEW
Emily S Kuschner, Hannah E Morton, Brenna B Maddox, Ashley de Marchena, Laura Gutermuth Anthony, Judy Reaven
Selective eating (often referred to as "picky" eating) is common in individuals with autism spectrum disorder (ASD) across the lifespan. Behavioral interventions are widely used to treat selective eating; however, most of these programs are time intensive, have not been evaluated for use in outpatient settings, and do not typically include youth beyond early childhood. Despite the functional impact and risk for negative outcomes associated with selective eating, there are no empirically supported treatments available for older children, adolescents, or adults, either with or without ASD...
May 22, 2017: Clinical Child and Family Psychology Review
https://www.readbyqxmd.com/read/28531286/is-foetal-hyperexposure-to-androgens-a-cause-of-pcos
#6
Panagiota Filippou, Roy Homburg
BACKGROUND: Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting reproductive-aged women. The pathophysiology of this syndrome is still not completely understood but recent evidence suggests that the intra-uterine environment may be a key factor in the pathogenesis of PCOS, in particular, hyperexposure of the foetus to androgens. High concentrations of maternal serum testosterone during pregnancy have been shown to influence behaviour during childhood, the prevalence of autism disorders and anti-Mullerian hormone (AMH) concentrations in adolescence...
May 20, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28530441/a-pilot-observational-study-of-an-acupressure-acupuncture-intervention-in-children-with-autism-spectrum-disorder
#7
Lana R Warren, Patricia A Rao, David C Paton
OBJECTIVES: To determine whether children with autism spectrum disorder (ASD) would tolerate an acupressure/acupuncture intervention and whether parents would adhere to a twice-weekly, 8-week intervention protocol. Second, to further understand best measures to use to capture impact of intervention on behavioral and regulatory functions. DESIGN: This is an observational pilot study with pre-, mid-, and postintervention measures. SETTINGS/LOCATION: The intervention was carried out in a private practice office in a large metropolitan area...
May 22, 2017: Journal of Alternative and Complementary Medicine: Research on Paradigm, Practice, and Policy
https://www.readbyqxmd.com/read/28529667/motor-problems-in-children-with-neurofibromatosis-type-1
#8
André B Rietman, Rianne Oostenbrink, Sanne Bongers, Eddy Gaukema, Sandra van Abeelen, Jos G Hendriksen, Caspar W N Looman, Pieter F A de Nijs, Marie-Claire de Wit
BACKGROUND: Children with the neurogenetic disorder neurofibromatosis type 1 (NF1) often have problems with learning and behaviour. In both parent reports and neuropsychological assessment, motor problems are reported in approximately one third to one half of the children with NF1. Studies using broad motor performance test batteries with relatively large groups of children with NF1 are limited. The aim of this cross-sectional observational study was to describe the severity of motor problems in children with NF1 and to explore the predictive value of demographics, intelligence, and behavioural problems...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28528670/glycine-receptor-drug-discovery
#9
Joseph W Lynch, Yan Zhang, Sahil Talwar, Argel Estrada-Mondragon
Postsynaptic glycine receptor (GlyR) chloride channels mediate inhibitory neurotransmission in the spinal cord and brain stem, although presynaptic and extrasynaptic GlyRs are expressed more widely throughout the brain. In humans, GlyRs are assembled as homo- or heteromeric pentamers of α1-3 and β subunits. GlyR malfunctions have been linked to a range of neurological disorders including hyperekplexia, temporal lobe epilepsy, autism, breathing disorders, and chronic inflammatory pain. Although it is possible that GlyRs may eventually be clinically targeted for a variety of neurological disorders, most research to date has focused on developing GlyR-targeted treatments for chronic pain...
2017: Advances in Pharmacology
https://www.readbyqxmd.com/read/28528584/autism-risk-following-antidepressant-medication-during-pregnancy
#10
A Viktorin, R Uher, A Reichenberg, S Z Levine, S Sandin
BACKGROUND: Previous studies have examined if maternal antidepressant medication during pregnancy increase the risk of autism spectrum disorder (ASD) in the offspring, but the results have been conflicting. METHODS: In a population-based cohort of 179 007 children born in 2006 and 2007 and followed through 2014 when aged 7 and 8, we estimated relative risks (RRs) of ASD and 95% confidence intervals (CIs) from Cox regression in children exposed to any antidepressant medication during pregnancy, and nine specific antidepressant drugs...
May 22, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/28524462/editorial-perspective-neurodiversity-a-revolutionary-concept-for-autism-and-psychiatry
#11
EDITORIAL
Simon Baron-Cohen
Should we continue to refer to autism as a 'disease' or 'disorder', or is the framework of 'neurodiversity' a more humane and accurate lens through which to view people with autism? Evidence at the genetic, neural, behavioural and cognitive levels reveals people with autism show both differences, and signs of disability, but not disorder. Disability requires societal support, acceptance of difference and diversity, and societal "reasonable adjustment", whilst disorder is usually taken to require cure or treatment...
June 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28523977/the-application-of-deep-brain-stimulation-in-the-treatment-of-psychiatric-disorders
#12
Ilse Graat, Martijn Figee, Damiaan Denys
Deep brain stimulation (DBS) is a last-resort treatment for neurological and psychiatric disorders that are refractory to standard treatment. Over the last decades, the progress of DBS in psychiatry has been slower than in neurology, in part owing to the heterogenic symptomatology and complex neuroanatomy of psychiatric disorders. However, for obsessive-compulsive disorder (OCD) DBS is now an accepted treatment. This study first reviews clinical outcomes and mechanisms of DBS for OCD, and then discusses these results in an overview of current and future psychiatric applications, including DBS for mood disorders, Tourette's syndrome, addiction, anorexia nervosa, autism, schizophrenia, and anxiety disorders...
April 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/28520841/chronic-inflammatory-pain-impairs-mglur5-mediated-depolarization-induced-suppression-of-excitation-in-the-anterior-cingulate-cortex
#13
Baolin Guo, Jiaqi Wang, Han Yao, Keke Ren, Jing Chen, Jing Yang, Guohong Cai, Haiying Liu, Yunlong Fan, Wenting Wang, Shengxi Wu
The anterior cingulate cortex (ACC) is a critical hub for nociceptive perception and pain-related anxiety. Long-term synaptic plasticity in ACC was found to be important for chronic inflammatory pain and pain-related anxiety. As short-term synaptic plasticity, depolarization-induced suppression of excitation (DSE) is involved in several conditions, such as chronic stress, epilepsy, and autism. However, it is still unknown whether DSE in the ACC is involved in the central sensitization of pain and anxiety. Using a whole-cell patch clamp, calcium imaging, western blot, and behavioral testing, we found that DSE was induced by a 2 s depolarization in postsynaptic pyramidal cells in ACC...
May 17, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28516224/psychiatric-behaviors-associated-with-cytoskeletal-defects-in-radial-neuronal-migration
#14
REVIEW
Toshifumi Fukuda, Shigeru Yanagi
Normal development of the cerebral cortex is an important process for higher brain functions, such as language, and cognitive and social functions. Psychiatric disorders, such as schizophrenia and autism, are thought to develop owing to various dysfunctions occurring during the development of the cerebral cortex. Radial neuronal migration in the embryonic cerebral cortex is a complex process, which is achieved by strict control of cytoskeletal dynamics, and impairments in this process are suggested to cause various psychiatric disorders...
May 17, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28514865/therapeutic-alliance-in-youth-with-autism-spectrum-disorder-receiving-cognitive-behavioral-treatment-for-anxiety
#15
Connor M Kerns, Amanda Collier, Adam B Lewin, Eric A Storch
Symptoms of autism spectrum disorder may influence alliance in psychotherapy. This study examined therapeutic alliance and its relationship with child characteristics and anxiety treatment outcomes in youth with autism spectrum disorder. Youth ( N = 64) with autism spectrum disorder and co-occurring anxiety (7-16 years, IQ > 70) received 16 sessions of modular cognitive-behavioral therapy. Post-treatment therapist, youth and parent ratings of alliance as well as pre- and post-treatment ratings of child behavior were gathered...
May 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28514706/evaluation-of-behavioral-change-after-adenotonsillectomy-for-obstructive-sleep-apnea-in-children-with-autism-spectrum-disorder
#16
Emi Murata, Ikuko Mohri, Kumi Kato-Nishimura, Jiro Iimura, Makoto Ogawa, Masaya Tachibana, Yuko Ohno, Masako Taniike
BACKGROUND AND OBJECTIVE: Obstructive sleep apnea (OSA) may affect daily cognitive functioning in children. The aims of our study were two-fold. The first aim was to detect, using the Child Behavior Checklist (CBCL), whether adenotonsillectomy (AT) for the treatment of OSA improved the behavior of children with autism spectrum disorder (ASD). The second aim was to identify characteristics for behavioral improvement following the treatment of OSA in these children with ASD. METHODS: The behaviors of ASD children aged 5-14 years diagnosed as having OSA (n=30) were evaluated using CBCL before and after AT...
May 14, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28513826/noncontingent-reinforcement-without-extinction-plus-differential-reinforcement-of-alternative-behavior-during-treatment-of-problem-behavior
#17
Jennifer N Fritz, Lynsey M Jackson, Nicole A Stiefler, Barbara S Wimberly, Amy R Richardson
The effects of noncontingent reinforcement (NCR) without extinction during treatment of problem behavior maintained by social positive reinforcement were evaluated for five individuals diagnosed with autism spectrum disorder. A continuous NCR schedule was gradually thinned to a fixed-time 5-min schedule. If problem behavior increased during NCR schedule thinning, a continuous NCR schedule was reinstated and NCR schedule thinning was repeated with differential reinforcement of alternative behavior (DRA) included...
May 17, 2017: Journal of Applied Behavior Analysis
https://www.readbyqxmd.com/read/28509404/family-therapy-for-autism-spectrum-disorders
#18
REVIEW
Debbie Spain, Jacqueline Sin, Eleni Paliokosta, Marie Furuta, Jonathan E Prunty, Trudie Chalder, Declan G Murphy, Francesca G Happé
BACKGROUND: Autism spectrum disorders (ASDs) are characterised by impairments in communication and reciprocal social interaction. These impairments can impact on relationships with family members, augment stress and frustration, and contribute to behaviours that can be described as challenging. Family members of individuals with ASD can experience high rates of carer stress and burden, and poor parental efficacy. While there is evidence to suggest that individuals with ASD and family members derive benefit from psychological interventions designed to reduce stress and mental health morbidity, and enhance coping, most studies to date have targeted the needs of either individuals with ASD, or family members...
May 16, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28503135/the-gut-microbiota-and-autism-spectrum-disorders
#19
REVIEW
Qinrui Li, Ying Han, Angel Belle C Dy, Randi J Hagerman
Gastrointestinal (GI) symptoms are a common comorbidity in patients with autism spectrum disorder (ASD), but the underlying mechanisms are unknown. Many studies have shown alterations in the composition of the fecal flora and metabolic products of the gut microbiome in patients with ASD. The gut microbiota influences brain development and behaviors through the neuroendocrine, neuroimmune and autonomic nervous systems. In addition, an abnormal gut microbiota is associated with several diseases, such as inflammatory bowel disease (IBD), ASD and mood disorders...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28502704/ketogenic-diet-leads-to-o-glcnac-modification-in-the-btbr-t-tf-j-mouse-model-of-autism
#20
Christopher Newell, Virginia L Johnsen, Nellie C Yee, Warren J Xu, Matthias S Klein, Aneal Khan, Jong M Rho, Jane Shearer
BACKGROUND: Protein O-linked-β-N-acetyl glucosamine (O-GlcNAc) is a post-translational modification to Ser/Thr residues that integrates energy supply with demand. Abnormal O-GlcNAc patterning is evident in several neurological disease states including epilepsy, Alzheimer's disease and autism spectrum disorder (ASD). A potential treatment option for these disorders includes the high-fat, low-carbohydrate, ketogenic diet (KD). The goal of this study was to determine whether the KD induces changes in O-GlcNAc in the BTBR(T+tf/j) (BTBR) mouse model of ASD...
May 11, 2017: Biochimica et Biophysica Acta
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