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https://www.readbyqxmd.com/read/29784657/autism-spectrum-disorder-advances-in-diagnosis-and-evaluation
#1
REVIEW
Lonnie Zwaigenbaum, Melanie Penner
Autism spectrum disorder (ASD) has a variety of causes, and its clinical expression is generally associated with substantial disability throughout the lifespan. Recent advances have led to earlier diagnosis, and deep phenotyping efforts focused on high risk infants have helped advance the characterization of early behavioral trajectories. Moreover, biomarkers that measure early structural and functional connectivity, visual orienting, and other biological processes have shown promise in detecting the risk of autism spectrum disorder even before the emergence of overt behavioral symptoms...
May 21, 2018: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29780794/pediatric-scurvy-when-contemporary-eating-habits-bring-back-the-past
#2
Alice Brambilla, Cristina Pizza, Donatella Lasagni, Lucia Lachina, Massimo Resti, Sandra Trapani
Vitamin C deficiency is anecdotal in developed countries, mainly associated with underling clinical morbidities as autism or neurological impairment. Chronic insufficient dietary supply is responsible for vascular fragility and impaired bone formation, resulting in gingival bleeding, petechial lesions, articular and bone pain or limb swelling. Children may present anorexia, irritability, failure to thrive, limping or refusal to walk. Accordingly, pediatric scurvy is frequently misdiagnosed with osteomyelitis, septic arthritis, bone and soft tissue tumor, leukemia, bleeding disorders, and rheumatologic conditions...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29766483/-autism-or-personality-disorder-in-older-adults-guidelines-for-the-differential-diagnosis
#3
A C Videler, E C J Delescen, M A Ouwens
Autism spectrum disorders and personality disorders are common, also in the elderly. Differential diagnosis is complex, especially if an undiagnosed autism spectrum disorder or personality disorder is suspected. We discuss two cases and conclude the article with suggestions for the differential diagnosis.
2018: Tijdschrift Voor Psychiatrie
https://www.readbyqxmd.com/read/29765220/children-with-autism-spectrum-disorders-and-selective-mutism
#4
Hanna Steffenburg, Suzanne Steffenburg, Christopher Gillberg, Eva Billstedt
Background: It has been suggested that autism spectrum disorder (ASD) might be a "comorbid" condition in selective mutism (SM). Methods: In this retrospective study, we examined medical records of children with SM diagnosis (n=97) at a medical center specializing in assessment of ASD. Results: Mean age for onset of SM symptoms was 4.5 years and mean age at SM diagnosis was 8.8 years. SM was more common among girls (boy:girl ratio=2...
2018: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/29763648/autism-spectrum-disorder-classification-diagnosis-and-therapy
#5
REVIEW
Samata R Sharma, Xenia Gonda, Frank I Tarazi
Autism Spectrum Disorder (ASD) refers to a group of neurodevelopmental disorders including autism, Asperger's syndrome (AS) and pervasive developmental disorder-not otherwise specified (PDD-NOS). The new diagnostic criteria of ASD focuses on two core domains: social communication impairment and restricted interests/repetitive behaviors. The prevalence of ASD has been steadily increasing over the past two decades, with current estimates reaching up to 1 in 36 children. Hereditary factors, parental history of psychiatric disorders, pre-term births, and fetal exposure to psychotropic drugs or insecticides have all been linked to higher risk of ASD...
May 12, 2018: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/29762671/motor-impairments-correlate-with-social-deficits-and-restricted-neuronal-loss-in-an-environmental-model-of-autism
#6
Tareq Al Sagheer, Obelia Haida, Anais Balbous, Maureen Francheteau, Emmanuel Matas, Pierre-Olivier Fernagut, Mohamed Jaber
Background: Motor impairments are amongst the earliest and most consistent signs of autism spectrum disorders (ASD) but are not used as diagnostic criteria. In addition, the relationship between motor and cognitive impairments and their respective neural substrates remain unknown. Methods: Here, we aimed at determining whether a well-acknowledged animal model of ASD, the valproic acid (VPA) model, displays motor impairments and whether they may correlate with social deficits and neuronal loss within motor brain areas...
May 12, 2018: International Journal of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29761836/acceptability-and-caregiver-reported-outcomes-for-young-children-with-autism-spectrum-disorder-whose-parents-attended-a-preventative-population-based-intervention-for-anxiety-a-pilot-study
#7
Natalie L Bischof, Ronald M Rapee, Kristelle Hudry, Jordana K Bayer
This pilot study explored acceptability to parents and outcomes for children of a preventive intervention for anxiety problems in pre-schoolers with autism spectrum disorder (ASD) who were an identified sub-group within a population-based randomised trial of the Cool Little Kids parenting group programme. The population trial included 545 temperamentally inhibited pre-schoolers recruited across eight economically diverse areas of Melbourne, Australia. Within this sample, 26 parents reported that their child had received an ASD diagnosis...
May 15, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29754444/peptidome-analysis-reveals-novel-serum-biomarkers-for-children-with-autism-spectrum-disorder-in-china
#8
Juan Yang, Yanni Chen, Xiaofan Xiong, Xiaobo Zhou, Lin Han, Ei Ni, Wenjing Wang, Xiaofei Wang, Lingyu Zhao, Dongdong Shao, Chen Huang
PURPOSE: Autism spectrum disorder (ASD) is a neurological and developmental disorder that begins early in childhood and lasts throughout one's life. Early diagnosis is essential for ASD since early treatment can enable children with ASD to make significant gains in language and social skills, but remains challenging since there are currently no specific biomarkers of ASD. The study aimed to identify serum biomarkers for ASD. EXPERIMENTAL DESIGN: Serum of Han Chinese children with ASD (n = 68) and age-matched healthy controls (n = 80) was analyzed using magnetic bead-based separation combined with mass spectrum...
May 13, 2018: Proteomics. Clinical Applications
https://www.readbyqxmd.com/read/29754290/parental-first-concerns-and-timing-of-autism-spectrum-disorder-diagnosis
#9
Tracy A Becerra-Culqui, Frances L Lynch, Ashli A Owen-Smith, Joseph Spitzer, Lisa A Croen
Specific developmental concerns can distinguish between an early versus later diagnosis of autism spectrum disorder (ASD). Caregiver survey responses of children ≥ 9 years-of-age (2012) with ASD were used to evaluate developmental concerns and associations with age of diagnosis [early (< 3 years: n = 106) vs. later (≥ 3 years: n = 432)] using logistic regression. Concerns arose at mean age 18 and 35-months for children diagnosed early versus later, respectively. Concerns about poor eye contact (aOR 1...
May 12, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29753047/chromosomal-microarray-analysis-of-bulgarian-patients-with-epilepsy-and-intellectual-disability
#10
Valentina Peycheva, Kunka Kamenarova, Neviana Ivanova, Dimitar Stamatov, Daniela Avdjieva-Tzavella, Iliana Alexandrova, Sashka Zhelyazkova, Iliana Pacheva, Petya Dimova, Ivan Ivanov, Ivan Litvinenko, Veneta Bozhinova, Ivailo Tournev, Emil Simeonov, Vanyo Mitev, Albena Jordanova, Radka Kaneva
High resolution chromosomal microarray analysis (CMA) has facilitated the identification of small chromosomal rearrangements throughout the genome, associated with various neurodevelopmental phenotypes, including ID/DD. Recently, it became evident that intellectual disability (ID)/developmental delay (DD) can occur with associated co-morbidities like epileptic seizures, autism and additional congenital anomalies. These observations require whole genome approach in order to detect the genetic causes of these complex disorders...
May 9, 2018: Gene
https://www.readbyqxmd.com/read/29752658/cytoplasmic-fmrp-interacting-protein-1-2-cyfip1-2-expression-analysis-in-autism
#11
Rezvan Noroozi, Mir Davood Omrani, Arezou Sayad, Mohammad Taheri, Soudeh Ghafouri-Fard
Cytoplasmic FMRP interacting proteins 1 and 2 (CYFIP1/2) have been previously shown to be associated with central nervous system (CNS) disorders such as autism spectrum disorder (ASD). Moreover, dysregulation of their expression levels results in disturbances in CNS maturation and neuronal interconnections. In the present study, we compared expression levels of CYFIP1/2 in peripheral blood of 30 ASD patients and 41 healthy subjects by means of real time PCR. Expression analysis showed significant over-expression of CYFIP1/2 in ASD patients compared with healthy subjects (Fold change = 3...
May 11, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29752630/potentially-reversible-social-deficits-among-transgender-youth
#12
Jack L Turban
Recently, there has been increased attention to a putative relationship between Autism Spectrum Disorder (ASD) and gender dysphoria, the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) diagnosis for those whose gender assigned at birth does not match their gender identity. Studies have shown an over-representation of ASD symptoms among transgender youth. These studies, however, have used scales that are non-specific for ASD. These ASD symptoms may represent social deficits that are secondary to social stress and deprivation, as transgender youth suffer high rates of peer and family rejection...
May 12, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29752629/brief-report-gender-and-age-of-diagnosis-time-trends-in-children-with-autism-using-australian-medicare-data
#13
Tamara May, Katrina Williams
Recent evidence suggests the male predominance in Autism Spectrum Disorder (ASD) may be decreasing. Secondary analyses of Australian Medicare data (paediatrician/child psychiatrist items for diagnosing ASD before age 13) were used (N = 73,463 unique children from 1-July-2008 to 30-June-2016). Cumulative incidence of ASD in 4-year-olds in 2015/2016 was 1.10% [95% CI 1.06-1.14], males 1.66% [95% CI 1.60-1.72] and females 0.51% [95% CI 0.47-0.55]. New diagnoses significantly increased in older (5-12 years) males and females but not younger (0-4 years) children, from 2010/2011 to 2015/2016...
May 11, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29750287/an-update-on-common-chromosome-microdeletion-and-microduplication-syndromes
#14
Paula Goldenberg
This review summarizes common microdeletion and microduplication syndromes and highlights important updates in patient-care needs for people with these conditions (22q11.2, 7q11.23, 17p11.2, and 16p11.2). These conditions are in chromosomal "hotspots" and have an estimated prevalence of 1 in 1,000 to 1 in 25,000. Some conditions have possible increased or decreased genetic risk of schizophrenia (22q11.2 deletion and duplication), or risk of aortic dilation (7q11.23 duplication) versus aortic stenosis (7q11...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29742462/the-link-between-interoceptive-processing-and-anxiety-in-children-diagnosed-with-autism-spectrum-disorder-extending-adult-findings-into-a-developmental-sample
#15
E R Palser, A Fotopoulou, E Pellicano, J M Kilner
Anxiety is a major associated feature of autism spectrum disorders. The incidence of anxiety symptoms in this population has been associated with altered interoceptive processing. Here, we investigated whether recent findings of impaired interoceptive accuracy (quantified using heartbeat detection tasks) and exaggerated interoceptive sensibility (subjective sensitivity to internal sensations on self-report questionnaires) in autistic adults, can be extended into a school-age sample of children and adolescents (n = 75)...
May 6, 2018: Biological Psychology
https://www.readbyqxmd.com/read/29738009/serotonin-and-serotonin-transporter-levels-in-autistic-children
#16
Haidar A Abdulamir, Omar F Abdul-Rasheed, Emad A Abdulghani
OBJECTIVES: To assess the possible correlation between serotonin and serotonin transporter (SERT) with the autism severity and investigate the association between these parameters in autistic children to assess their possible role for diagnosis of autism severity. METHODS: A comparative cross-sectional study was carried out in the Chemistry and Biochemistry Department, College of Medicine, Al-Nahrain University, Baghdad, Iraq while the samples were taken from 60 male autistic children recruited to the Department of Pediatrics at Al-Sader Hospital, Baghdad, Iraq between November 2014 amd April 2015...
May 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29736964/novel-pls3-variants-in-x-linked-osteoporosis-exploring-bone-material-properties
#17
Meena Balasubramanian, Nadja Fratzl-Zelman, Rory O'Sullivan, Mary Bull, Nicola Fa Peel, Rebecca C Pollitt, Rebecca Jones, Elizabeth Milne, Kath Smith, Paul Roschger, Klaus Klaushofer, Nicholas J Bishop
BACKGROUND: Idiopathic Juvenile Osteoporosis (IJO) refers to significantly lower than expected bone mass manifesting in childhood with no identifiable aetiology. IJO classically presents in early pubertal period with multiple fractures including metaphyseal and vertebral crush fractures, and low bone-mass. METHODS: Here we describe two patients and provide information on their clinical phenotype, genotype and bone material analysis in one of the patients. RESULTS: Patient 1: 40-year old adult male diagnosed with IJO in childhood who re-presented with a hip fracture as an adult...
May 7, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29736781/combination-of-rs-fmri-and-smri-data-to-discriminate-autism-spectrum-disorders-in-young-children-using-deep-belief-network
#18
Maryam Akhavan Aghdam, Arash Sharifi, Mir Mohsen Pedram
In recent years, the use of advanced magnetic resonance (MR) imaging methods such as functional magnetic resonance imaging (fMRI) and structural magnetic resonance imaging (sMRI) has recorded a great increase in neuropsychiatric disorders. Deep learning is a branch of machine learning that is increasingly being used for applications of medical image analysis such as computer-aided diagnosis. In a bid to classify and represent learning tasks, this study utilized one of the most powerful deep learning algorithms (deep belief network (DBN)) for the combination of data from Autism Brain Imaging Data Exchange I and II (ABIDE I and ABIDE II) datasets...
May 7, 2018: Journal of Digital Imaging: the Official Journal of the Society for Computer Applications in Radiology
https://www.readbyqxmd.com/read/29735992/enhanced-pupillary-light-reflex-in-infancy-is-associated-with-autism-diagnosis-in-toddlerhood
#19
Pär Nyström, Teodora Gliga, Elisabeth Nilsson Jobs, Gustaf Gredebäck, Tony Charman, Mark H Johnson, Sven Bölte, Terje Falck-Ytter
Autism spectrum disorder (ASD) is a neurodevelopmental condition affecting around 1% of the population. We previously discovered that infant siblings of children with ASD had stronger pupillary light reflexes compared to low-risk infants, a result which contrasts sharply with the weak pupillary light reflex typically seen in both children and adults with ASD. Here, we show that on average the relative constriction of the pupillary light reflex is larger in 9-10-month-old high risk infant siblings who receive an ASD diagnosis at 36 months, compared both to those who do not and to low-risk controls...
May 7, 2018: Nature Communications
https://www.readbyqxmd.com/read/29735112/stereotypic-movement-disorders
#20
Mackenzie Katherine
This review summarizes motor stereotypies in terms of description, prevalence, pathophysiology, diagnosis and management. They are fixed and persistent movements. Stereotypies begin before 3 years of age and continue into adulthood. Primary motor stereotypies occur in children of normal intelligence, whereas secondary stereotypies ensue in the setting of an additional diagnosis such as autism spectrum disorder or other neurologic disorders. They are highly associated with comorbidities such as anxiety, obsessive-compulsive symptoms, inattention, and tics...
April 2018: Seminars in Pediatric Neurology
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