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Pervasive Developmental Disease

Louise K Hoeffding, Betina B Trabjerg, Line Olsen, Wiktor Mazin, Thomas Sparsø, Anders Vangkilde, Preben B Mortensen, Carsten B Pedersen, Thomas Werge
Importance: Microdeletions and duplications have been described at the 22q11.2 locus. However, little is known about the clinical and epidemiologic consequences at the population level. Objective: To identify indicators of deletions or duplications at the 22q11.2 locus and estimate the incidence rate ratios (IRRs) and absolute risk for psychiatric disorders in clinically identified individuals with 22q11.2 deletion or duplication. Design, Setting, and Participants: A Danish nationwide register study including all individuals recorded in the Danish Cytogenetic Central Register with a 22q11...
March 1, 2017: JAMA Psychiatry
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
Enrico Danzer, Casey Hoffman, Jo Ann D'Agostino, Marsha Gerdes, Judy Bernbaum, Ryan M Antiel, Natalie E Rintoul, Lisa M Herkert, Alan W Flake, N Scott Adzick, Holly L Hedrick
OBJECTIVE: To evaluate neurodevelopmental sequelae in congenital diaphragmatic hernia (CDH) children at 5years of age. MATERIALS AND METHODS: The study cohort of 35 CDH patients was enrolled in our follow-up program between 06/2004 and 09/2014. The neurodevelopmental outcomes assessed at a median of 5years (range, 4-6) included cognition (Wechsler Preschool and Primary Scale of Intelligence [WPPSI], n=35), Visual-Motor-Integration (n=35), academic achievement (Woodcock-Johnson Tests of Achievement, n=25), and behavior problems (Child Behavior Check List [CBCL], n=26)...
March 2017: Journal of Pediatric Surgery
Maina Kariuki, Alessandra Raudino, Melissa J Green, Kristin R Laurens, Kimberlie Dean, Sally A Brinkman, Rhoshel K Lenroot, Enwu Liu, Felicity Harris, Luming Luo, Vaughan J Carr
AIM: Childhood infectious diseases can be associated with later physical and psychological ill health, and the effects of this association may be evident during early childhood development. This study aimed to examine the effects of hospitalisation for early life infection on early childhood development. METHODS: Hospital admission data for infection were obtained from the New South Wales Ministry of Health Admitted Patient Data Collection for 87 026 children, for whom the Australian Early Development Census (AEDC) was completed in their first year of formal schooling (age approximately 5 years)...
September 2016: Journal of Paediatrics and Child Health
Pauline Charruau, Rachel A Johnston, Daniel R Stahler, Amanda Lea, Noah Snyder-Mackler, Douglas W Smith, Bridgett M vonHoldt, Steven W Cole, Jenny Tung, Robert K Wayne
Gene expression levels change as an individual ages and responds to environmental conditions. With the exception of humans, such patterns have principally been studied under controlled conditions, overlooking the array of developmental and environmental influences that organisms encounter under conditions in which natural selection operates. We used high-throughput RNA sequencing (RNA-Seq) of whole blood to assess the relative impacts of social status, age, disease, and sex on gene expression levels in a natural population of gray wolves (Canis lupus)...
August 2016: Molecular Biology and Evolution
Savindika Chamari Nawarathna, Sonu Hangma Subba, Arunav Guha
INTRODUCTION: According to the World Health Organization (WHO), mental health disorders are one of the leading causes of disability worldwide and it is as common in children. Anywhere between one to three children may be suffering from psychiatric disorders at any point in time. AIM: This study intended to find the pattern of psychiatric disorders and associated sociodemographic factors among children attending the psychiatric department in a tertiary care hospital in Southern India...
March 2016: Journal of Clinical and Diagnostic Research: JCDR
Sukhleen Kour, Pramod C Rath
Around 90% of the mammalian genome undergoes pervasive transcription into various types of small and long regulatory noncoding RNAs, whereas only ∼ 1.5% codes for proteins. Long noncoding RNAs (lncRNAs) constitute diverse classes of sense- and antisense transcripts that are abundantly expressed in the mammalian central nervous system (CNS) in cell type- and developmental stage-specific manners. They are implicated in brain development, differentiation, neuronal plasticity, and other cognitive functions. Mammalian brain requires the vitamin A metabolite all-trans retinoic acid (atRA) for its normal development, differentiation, and cell-fate determination...
February 2016: Journal of Molecular Neuroscience: MN
David A Geier, Janet K Kern, Brian S Hooker, Lisa K Sykes, Mark R Geier
BACKGROUND: Previously, investigators suggested that diagnostic substitution from other diagnoses, e.g., mental retardation (MR) and/or cerebral palsy (CP) to pervasive developmental disorder (PDD) is a driving factor behind increases in autism. This study evaluated potential diagnostic substitution among subjects diagnosed with PDD vs. MR or CP by examining birth characteristic overlap. METHODS: SAS(®) and StatsDirect software examined medical records for subjects within the Vaccine Safety Datalink database who were Health Maintenance Organization-enrolled from birth until diagnosed with an International Classification of Disease, 9th revision (ICD-9) outcome of PDD (299...
2015: Frontiers in Pediatrics
Gheona Altarescu, Rachel Beeri, Galit Lazer-Derbeko, Talia Eldar-Geva, Avraham Steinberg, Ephrat Levy-Lahad, Paul Renbaum
New technologies are revealing genetic variants of unknown significance (VUS), raising questions about the indications that call for preimplanation genetic diagnosis (PGD). Two couples requesting PGD for VUS are presented. The first couple requested PGD for Lynch syndrome. Whole exome sequencing identified in a healthy male with a family history of Lynch-associated tumours, a MLH1 missense variant. The variant had not been reported as pathogenic, but was predicted as damaging by algorithms. The second couple had a child diagnosed with pervasive developmental disorder and intellectual disability, carrying a microduplication on chr:Xp...
November 2015: Reproductive Biomedicine Online
Richard A Prayson, Jordan M Gales
The most commonly identified pathologies in patients with medically intractable epilepsy include focal cortical dysplasia, hippocampal sclerosis, tumors, and remote ischemic damage. Surgery has proven to be an effective therapeutic modality in most of such patients. The coexistence of multiple pathologies in resected tissues is well documented, particularly ganglioglioma and focal cortical dysplasia. Cases of triple pathology are, however, extraordinarily unusual. We report 2 cases of triple pathology including hippocampal sclerosis, ganglioglioma, and focal cortical dysplasia...
October 2015: Annals of Diagnostic Pathology
Crystal C Watkins, Sarah Ramsay Andrews
Schizophrenia is a pervasive neurodevelopmental disorder that appears to result from genetic and environmental factors. Although the dopamine hypothesis is the driving theory behind the majority of translation research in schizophrenia, emerging evidence suggests that aberrant immune mechanisms in the peripheral and central nervous system influence the etiology of schizophrenia and the pathophysiology of psychotic symptoms that define the illness. The initial interest in inflammatory processes comes from epidemiological data and historical observations, dating back several decades...
September 2016: Schizophrenia Research
Giorgina Barbara Piccoli, Valentina Postorino, Gianfranca Cabiddu, Sara Ghiotto, Gabriella Guzzo, Simona Roggero, Eleonora Manca, Rosalba Puddu, Francesca Meloni, Rossella Attini, Paolo Moi, Bruna Guida, Stefania Maxia, Antonio Piga, Luigi Mazzone, Antonello Pani, Maurizio Postorino
BACKGROUND: Pregnancy on dialysis is increasingly being reported. This study evaluates the behavioural profile of the children of mothers on dialysis and the parental stress their mothers undergo when compared with a group of mothers affected by a different chronic disease (microcythaemia) and a group of healthy control mothers. METHODS: Between 2000 and 2012, 23 on-dialysis mothers gave birth to 24 live-born children in Italy (23 pregnancies, 1 twin pregnancy, one of the twins deceased soon after delivery); of these, 16 mothers and 1 father (whose wife died before the inquiry) were included in the study (1 mother had died and the father was unavailable; 2 were not asked to participate because their children had died and 3 were unavailable; children: median age: 8...
July 2015: Nephrology, Dialysis, Transplantation
Patrick F Lee, Roger E Thomas, Patricia A Lee
OBJECTIVE: To review the diagnostic criteria for autism spectrum disorder (ASD) from the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM-V), and to develop an approach to managing ASD using the CanMEDS- Family Medicine (CanMEDS-FM) framework. SOURCES OF INFORMATION: The DSM-V from the American Psychiatric Association, published in May 2013, provides new diagnostic criteria for ASD. The College of Family Physicians of Canada's CanMEDS-FM framework provides a blueprint that can guide the complex management of ASD...
May 2015: Canadian Family Physician Médecin de Famille Canadien
Anjali Jain, Jaclyn Marshall, Ami Buikema, Tim Bancroft, Jonathan P Kelly, Craig J Newschaffer
IMPORTANCE: Despite research showing no link between the measles-mumps-rubella (MMR) vaccine and autism spectrum disorders (ASD), beliefs that the vaccine causes autism persist, leading to lower vaccination levels. Parents who already have a child with ASD may be especially wary of vaccinations. OBJECTIVE: To report ASD occurrence by MMR vaccine status in a large sample of US children who have older siblings with and without ASD. DESIGN, SETTING, AND PARTICIPANTS: A retrospective cohort study using an administrative claims database associated with a large commercial health plan...
April 21, 2015: JAMA: the Journal of the American Medical Association
Maria De Angelis, Ruggiero Francavilla, Maria Piccolo, Andrea De Giacomo, Marco Gobbetti
Through extensive microbial-mammalian co-metabolism, the intestinal microbiota have evolved to exert a marked influence on health and disease via gut-brain-microbiota interactions. In this addendum, we summarize the findings of our recent study on the fecal microbiota and metabolomes of children with pervasive developmental disorder-not otherwise specified (PDD-NOS) or autism (AD) compared with healthy children (HC). Children with PDD-NOS or AD have altered fecal microbiota and metabolomes (including neurotransmitter molecules)...
2015: Gut Microbes
Yasuo Bunai, Akira Ishii, Kayoko Akaza, Atsushi Nagai, Naoki Nishida, Seiji Yamaguchi
Japanese encephalitis (JE) virus is estimated to result in 3500-50,000 clinical cases every year, with mortality rates of up to 20-50% and a high percentage of neurological sequelae in survivors. Vaccination is the single most important measure in preventing this disease. Inactivated Vero cell culture-derived JE vaccines have not been linked to any fatalities, and few serious adverse events after vaccination have been reported. Here, we report a case of sudden death in which a 10-year-old boy experienced cardiopulmonary arrest 5 min after receiving a Japanese encephalitis vaccination...
July 2015: Legal Medicine
Michio Fukumizu, Masaharu Hayashi, Tasuku Miyajima, Asayo Ishizaki, Hajime Tanaka, Jun Kohyama
OBJECTIVE: We carried out a questionnaire survey to investigate the uses of melatonin and ramelteon in Japanese children. METHODS: We sent a questionnaire to councilors of the Japanese Society of Child Neurology by e-mail, and sent the same questionnaire to members of the Japanese Society of Pediatric Psychiatry and Neurology by postal mail. RESULTS: During the first phase of the survey, 220 responses were obtained, and 45% of the respondents prescribed melatonin...
January 2015: No to Hattatsu. Brain and Development
Fabiola Quintero-Rivera, Qiongchao J Xi, Kim M Keppler-Noreuil, Ji Hyun Lee, Anne W Higgins, Raymond M Anchan, Amy E Roberts, Ihn Sik Seong, Xueping Fan, Kasper Lage, Lily Y Lu, Joanna Tao, Xuchen Hu, Ronald Berezney, Bruce D Gelb, Anna Kamp, Ivan P Moskowitz, Ronald V Lacro, Weining Lu, Cynthia C Morton, James F Gusella, Richard L Maas
Cardiac left ventricular outflow tract (LVOT) defects represent a common but heterogeneous subset of congenital heart disease for which gene identification has been difficult. We describe a 46,XY,t(1;5)(p36.11;q31.2)dn translocation carrier with pervasive developmental delay who also exhibited LVOT defects, including bicuspid aortic valve (BAV), coarctation of the aorta (CoA) and patent ductus arteriosus (PDA). The 1p breakpoint disrupts the 5' UTR of AHDC1, which encodes AT-hook DNA-binding motif containing-1 protein, and AHDC1-truncating mutations have recently been described in a syndrome that includes developmental delay, but not congenital heart disease [Xia, F...
April 15, 2015: Human Molecular Genetics
Eldin Jašarević, Ali B Rodgers, Tracy L Bale
Perturbations in the prenatal and early life environment can contribute to the development of offspring stress dysregulation, a pervasive symptom in neuropsychiatric disease. Interestingly, the vertical transmission of maternal microbes to offspring and the subsequent bacterial colonization of the neonatal gut overlap with a critical period of brain development. Therefore, environmental factors such as maternal stress that are able to alter microbial populations and their transmission can thereby shape offspring neurodevelopment...
January 1, 2015: Neurobiology of Stress
Bahram Namjou, Keith Marsolo, Robert J Caroll, Joshua C Denny, Marylyn D Ritchie, Shefali S Verma, Todd Lingren, Aleksey Porollo, Beth L Cobb, Cassandra Perry, Leah C Kottyan, Marc E Rothenberg, Susan D Thompson, Ingrid A Holm, Isaac S Kohane, John B Harley
OBJECTIVE: We report the first pediatric specific Phenome-Wide Association Study (PheWAS) using electronic medical records (EMRs). Given the early success of PheWAS in adult populations, we investigated the feasibility of this approach in pediatric cohorts in which associations between a previously known genetic variant and a wide range of clinical or physiological traits were evaluated. Although computationally intensive, this approach has potential to reveal disease mechanistic relationships between a variant and a network of phenotypes...
2014: Frontiers in Genetics
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