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Autistic spectrum disorder

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https://www.readbyqxmd.com/read/28808808/ketogenic-diet-versus-gluten-free-casein-free-diet-in-autistic-children-a-case-control-study
#1
Omnia El-Rashidy, Farida El-Baz, Yasmin El-Gendy, Randa Khalaf, Dina Reda, Khaled Saad
Many diet regimens were studied for patients with autism spectrum disorder (ASD) over the past few years. Ketogenic diet is gaining attention due to its proven effect on neurological conditions like epilepsy in children. Forty-five children aged 3-8 years diagnosed with ASD based on DSM-5 criteria were enrolled in this study. Patients were equally divided into 3 groups, first group received ketogenic diet as modified Atkins diet (MAD), second group received gluten free casein free (GFCF) diet and the third group received balanced nutrition and served as a control group...
August 14, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28807762/diagnostic-exome-sequencing-identifies-a-heterozygous-mbd5-frameshift-mutation-in-a-family-with-intellectual-disability-and-epilepsy
#2
Ji Yoon Han, In Goo Lee, Woori Jang, Myungshin Kim, Yonggoo Kim, Ja Hyun Jang, Joonhong Park
Methyl-CpG-binding domain 5 (MBD5)-associated neurodevelopmental disorder caused by 2q23.1 or MBD5-specific mutation has been recently identified as a genetic disorder associated with autism spectrum disorders. Phenotypic features of 2q23.1 deletion or disruption of MBD5 gene include severe intellectual disability, seizure, significant speech impairment, sleep disturbance, and autistic-like behavioural problems. Here we report a 7-year-old girl with intellectual disability and epilepsy without previous clinical diagnosis...
August 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28805071/a-systematic-review-of-quality-of-life-of-adults-on-the-autism-spectrum
#3
Michael Ayres, Jeremy R Parr, Jacqui Rodgers, David Mason, Leah Avery, Darren Flynn
Autism spectrum disorder is associated with co-existing conditions that may adversely affect an individual's quality of life. No systematic review of quality of life of adults on the autism spectrum has been conducted. Our objectives were as follows: (1) review the evidence about quality of life for adults on the autism spectrum; (2) critically appraise current practice in assessing quality of life of adults on the autism spectrum. We searched bibliographic databases and other literature to identify studies using a direct measure of quality of life of adults on the autism spectrum...
August 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/28804650/the-2d%C3%A2-%C3%A2-4d-digit-ratio-as-a-biomarker-for-autism-spectrum-disorder
#4
M Mackus, D de Kruijff, L S Otten, A D Kraneveld, J Garssen, J C Verster
It has been suggested that the second (2D, index finger) to fourth (4D, ring finger) digit ratio, 2D : 4D, may be a biomarker for the risk of developing autism. The aim of the current study was to determine the usefulness of the 2D : 4D digit ratio as biomarker for autistic traits. N = 401 healthy young volunteers participated in the study. For both hands, digit lengths were measured using digital Vernier calipers. In addition to demographics, the Autism Spectrum Quotient (AQ) questionnaire was completed, comprised of five subscales, assessing "social insights and behavior," "attention switching," "communication," "imagination," and "attention to detail...
2017: Autism Research and Treatment
https://www.readbyqxmd.com/read/28800716/co-occurrence-of-asd-and-adhd-traits-in-an-adult-population
#5
Maria Panagiotidi, Paul G Overton, Tom Stafford
OBJECTIVE: ADHD and autism spectrum disorder (ASD) can be viewed as the extreme end of traits found in the general population. Clinical and genetic studies suggest that ADHD and ASD often co-occur and share genetic susceptibility. The aim of this study was to examine co-occurrence of ADHD and ASD traits in the general population. METHOD: In total, 334 participants were recruited from a population-based sample. Four questionnaires assessing current and retrospective ADHD and ASD traits were administered online: the Adult ADHD Self-Report Scale (ASRS) Symptom Checklist, the Wender Utah Rating Scale (WURS-25), the Broad Autism Phenotype Questionnaire (BAPQ), and the Autism Spectrum Quotient (AQ)...
August 1, 2017: Journal of Attention Disorders
https://www.readbyqxmd.com/read/28800207/optically-derived-metabolic-and-hemodynamic-parameters-predict-hippocampal-neurogenesis-in-the-btbr-mouse-model-of-autism
#6
David Abookasis, Danit Lerman, Hava Roth, Mati Tfilin, Gadi Turgeman
In the present study, we made use of dual-wavelength laser speckle imaging (DW-LSI) to assess cerebral blood flow in the BTBR genetic mouse model of Autism Spectrum Disorder, as well as control (C57Bl/6J) mice. Since the deficits in social behavior demonstrated by BTBR mice are attributed to changes in neural tissue structure and function, we postulated that these changes can be detected optically using DW-LSI. BTBR mice demonstrated reductions in both cerebral blood flow (CBF) and cerebral oxygen metabolism (CMRO2 ), as suggested by studies using conventional neuroimaging technologies to reflect impaired neuronal activation and cognitive function...
August 11, 2017: Journal of Biophotonics
https://www.readbyqxmd.com/read/28798710/convergent-evaluation-of-working-memory-and-arithmetic-ability-in-a-child-with-autism-spectrum-disorder-without-intellectual-impairment
#7
Sandra Pellizzoni, Maria C Passolunghi
Studies focusing on a joint evaluation of both Working Memory (WM) and Math Ability (MA) in autism are far from abundant in literature, possibly due to inadequate methodological approaches and reported inconsistencies between results obtained in each separate field of research, resulting in contradictory conclusions. The specific aim of this case report is therefore evaluating and integrating results on these two cognitive abilities in a child with autism spectrum disorder without intellectual impairment. Our data on an autistic 10-year-old child (M...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28797309/aging-well-on-the-autism-spectrum-the-perspectives-of-autistic-adults-and-carers
#8
Ye In Jane Hwang, Kitty-Rose Foley, Julian N Trollor
BACKGROUND: "Aging well" is an increasingly popular concept in gerontology. Adults with disabilities such as autism spectrum disorder represent a demographically substantial population, yet remain excluded from existing conceptualizations of aging well. This qualitative study aimed to explore what it means for autistic adults to "age well" from the perspectives of autistic adults and carers. METHODS: Twenty-four semi-structured interviews were conducted with 15 autistic adults (mean age 50...
August 11, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28795659/role-of-mycotoxins-in-the-pathobiology-of-autism-a-first-evidence
#9
Barbara De Santis, Carlo Brera, Alessandra Mezzelani, Sabina Soricelli, Francesca Ciceri, Giorgio Moretti, Francesca Debegnach, Maria Clara Bonaglia, Laura Villa, Massimo Molteni, Maria Elisabetta Raggi
OBJECTIVES: Gene-environment interaction is an emerging hypothesis to expound not only the autism pathogenesis but also the increased incidence of neurodevelopmental disorders (such as autistic spectrum disorder, attention-deficit, hyperactivity disorder). Among xenobiotics, mycotoxins are worldwide contaminants of food that provoke toxicological effects, crucially resembling several symptoms associated with autism such as oxidative stress, intestinal permeability, and inflammation. Here, we focused on a group of mycotoxins to test their role in the manifestation of autism, try to explain their mechanism of action, and discuss possible preventive and therapeutic interventions...
August 10, 2017: Nutritional Neuroscience
https://www.readbyqxmd.com/read/28795253/autonomic-responses-to-head-up-tilt-test-in-children-with-autism-spectrum-disorders
#10
Véronique-Aurélie Bricout, Marion Pace, Léa Dumortier, Anne Favre-Juvin, Michel Guinot
Autism Spectrum Disorders (ASD) is a group of neurodevelopmental disorders often manifested by social and behavioral deficiencies. Autonomic dysfunction is frequently reported in the autistic population but the mechanisms remain largely unknown. We aimed to characterize the cardiac autonomic profile of children with autism during a head-up tilt test. Thirty-nine male children were recruited: 19 controls (9.9 ± 1.6 years) and 20 children with ASD without intellectual disability (10.7 ± 1.2 years). Each child underwent a head-up tilt test on a motorized tilt table...
August 9, 2017: Journal of Abnormal Child Psychology
https://www.readbyqxmd.com/read/28794973/increased-glutamate-gaba-ratio-in-a-shared-autistic-and-schizotypal-trait-phenotype-termed-social-disorganisation
#11
Talitha C Ford, Richard Nibbs, David P Crewther
Autism and schizophrenia are multi-dimensional spectrum disorders that have substantial phenotypic overlap. This overlap is readily identified in the non-clinical population, and has been conceptualised as Social Disorganisation (SD). This study investigates the balance of excitatory glutamate and inhibitory γ-aminobutyric acid (GABA) concentrations in a non-clinical sample with high and low trait SD, as glutamate and GABA abnormalities are reported across the autism and schizophrenia spectrum disorders. Participants were 18 low (10 females) and 19 high (9 females) SD scorers aged 18 to 40 years who underwent (1)H-MRS for glutamate and GABA+macromolecule (GABA+) concentrations in right and left hemisphere superior temporal (ST) voxels...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28783931/low-retinal-dehydrogenase-1-raldh1-level-in-prepubertal-boys-with-autism-spectrum-disorder-a-possible-link-to-dopamine-dysfunction
#12
Denis Pavăl, Florina Rad, Răzvan Rusu, Alexandru-Ştefan Niculae, Horaţiu Alexandru Colosi, Iuliana Dobrescu, Eleonora Dronca
Objective: Retinal dehydrogenase 1 (RALDH1) is a cytosolic enzyme which acts both as a source of retinoic acid (RA) and as a detoxification enzyme. RALDH1 has key functions in the midbrain dopaminergic system, which influences motivation, cognition, and social behavior. Since dopamine has been increasingly linked to autism spectrum disorder (ASD), we asked whether RALDH1 could contribute to the autistic phenotype. Therefore, we investigated for the first time the levels of RALDH1 in autistic patients...
August 31, 2017: Clinical Psychopharmacology and Neuroscience: the Official Scientific Journal of the Korean College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/28774669/neurodevelopmental-disorders-in-children-with-macrocephaly-a-prevalence-study-and-pten-gene-analysis
#13
Hirofumi Kurata, Kentaro Shirai, Yoshiaki Saito, Tetsuya Okazaki, Koyo Ohno, Masayoshi Oguri, Kaori Adachi, Eiji Nanba, Yoshihiro Maegaki
PURPOSE: To clarify the relationship between macrocephaly and neurodevelopmental disorders, as well as identify the prevalence of PTEN mutations in autism spectrum disorders with macrocephaly in Japan. SUBJECTS AND METHODS: Diagnostic and other medical information of children with macrocephaly younger than 4years (n=93) were collected for analysis. PTEN gene mutation analysis was conducted in another set of 16 macrocephalic individuals aged 3-22years. RESULTS: Sixteen macrocephalic children were associated with neurodevelopmental disorders, including autism spectrum disorders (ASDs) (n=6), autistic traits (n=5), intellectual disability (n=5), attention deficit hyperactivity disorder (n=1), developmental coordination disorders (n=1), and language disorder (n=1)...
July 31, 2017: Brain & Development
https://www.readbyqxmd.com/read/28768552/a-mild-form-of-adenylosuccinate-lyase-deficiency-in-absence-of-typical-brain-mri-features-diagnosed-by-whole-exome-sequencing
#14
Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli
BACKGROUND: Adenylosuccinate lyase (ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The most severe form is characterized by neonatal encephalopathy, absence of spontaneous movement, respiratory failure, intractable seizures, and early death within the first weeks of life...
August 2, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28767393/immunological-cytokine-profiling-identifies-tnf-%C3%AE-as-a-key-molecule-dysregulated-in-autistic-children
#15
Jiang Xie, Li Huang, Xiaohong Li, Hua Li, Yongmei Zhou, Hua Zhu, Tianying Pan, Keith M Kendrick, Wenming Xu
Recent studies have suggested that the etiology of Autism Spectrum Disorder (ASD) may be caused by immunological factors, particularly abnormalities in the innate immune system. However, it is still unclear which specific cytokines may be of most importance. The current study therefore investigated which cytokines showed altered concentrations in blood in ASD compared with healthy control children and which were also correlated with symptom severity. Our study sample included 32 children diagnosed with ASD and 28 age and sex-matched typically developing children...
July 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28761079/alterations-in-resting-state-connectivity-along-the-autism-trait-continuum-a-twin-study
#16
J Neufeld, R Kuja-Halkola, K Mevel, É Cauvet, P Fransson, S Bölte
Autism spectrum disorder (ASD) has been found to be associated with alterations in resting state (RS) functional connectivity, including areas forming the default mode network (DMN) and salience network (SN). However, insufficient control for confounding genetic and environmental influences and other methodological issues limit the generalizability of previous findings. Moreover, it has been hypothesized that ASD might be marked by early hyper-connectivity followed by later hypo-connectivity. To date, only a few studies have explicitly tested age-related influences on RS connectivity alterations in ASD...
August 1, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28758966/variability-of-creatine-metabolism-genes-in-children-with-autism-spectrum-disorder
#17
Jessie M Cameron, Valeriy Levandovskiy, Wendy Roberts, Evdokia Anagnostou, Stephen Scherer, Alvin Loh, Andreas Schulze
Creatine deficiency syndrome (CDS) comprises three separate enzyme deficiencies with overlapping clinical presentations: arginine:glycine amidinotransferase (GATM gene, glycine amidinotransferase), guanidinoacetate methyltransferase (GAMT gene), and creatine transporter deficiency (SLC6A8 gene, solute carrier family 6 member 8). CDS presents with developmental delays/regression, intellectual disability, speech and language impairment, autistic behaviour, epileptic seizures, treatment-refractory epilepsy, and extrapyramidal movement disorders; symptoms that are also evident in children with autism...
July 31, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28752219/the-putative-role-of-environmental-aluminium-in-the-development-of-chronic-neuropathology-in-adults-and-children-how-strong-is-the-evidence-and-what-could-be-the-mechanisms-involved
#18
REVIEW
Gerwyn Morris, Basant K Puri, Richard E Frye
The conceptualisation of autistic spectrum disorder and Alzheimer's disease has undergone something of a paradigm shift in recent years and rather than being viewed as single illnesses with a unitary pathogenesis and pathophysiology they are increasingly considered to be heterogeneous syndromes with a complex multifactorial aetiopathogenesis, involving a highly complex and diverse combination of genetic, epigenetic and environmental factors. One such environmental factor implicated as a potential cause in both syndromes is aluminium, as an element or as part of a salt, received, for example, in oral form or as an adjuvant...
July 27, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28750723/intra-individual-cognitive-imbalance-in-asd-between-perceptual-reasoning-and-ambiguity-solving-related-to-tool-use-comparison-among-children-exhibiting-asd-ad-hd-and-typical-development
#19
Keisuke Wakusawa, Chieko Nara, Yuki Kubota, Yayoi Tomizawa, Yasuyuki Taki, Yuko Sassa, Satoru Kobayashi, Sato Suzuki-Muromoto, Mieko Hirose, Hiroyuki Yokoyama, Takahiro Nara, Shigeo Kure, Norio Mori, Noriyoshi Takei, Ryuta Kawashima
OBJECTIVE: Several studies have suggested that objective deficits in the processing of abstract information in conjunction with an enhanced ability to process concrete information is a definitive characteristic of autism spectrum disorder (ASD). However, this cognitive imbalance is not necessarily clear in high-functioning autistic individuals who do not display absolute differences relative to typically developing (TD) populations. Thus, the purpose of this study was to identify this cognitive tendency in high-functioning autistic individuals using intra-individual cognitive comparisons...
July 24, 2017: Brain & Development
https://www.readbyqxmd.com/read/28750400/a-dopamine-hypothesis-of-autism-spectrum-disorder
#20
Denis Pavăl
Autism spectrum disorder (ASD) comprises a group of neurodevelopmental disorders characterized by social deficits and stereotyped behaviors. While several theories have emerged, the pathogenesis of ASD remains unknown. Although studies report dopamine signaling abnormalities in autistic patients, a coherent dopamine hypothesis which could link neurobiology to behavior in ASD is currently lacking. In this paper, we present such a hypothesis by proposing that autistic behavior arises from dysfunctions in the midbrain dopaminergic system...
July 28, 2017: Developmental Neuroscience
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