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Direct linkCampbell, Dennis J.; Reilly, AmySue; Henley, Joan – Education and Training in Developmental Disabilities, 2008
This paper describes a research study that assessed young children with a low incidence disability, specifically Cri-du-Chat Syndrome (CDSC). A description of the concerns of assessing individuals with low incidence disabilities is described. Parent reports (using the Development Observation Checklist System) on the functioning of their children…
Descriptors: Disabilities, Genetic Disorders, Children, Adolescents
Gelinas, Jennifer N.; Tenorio, Gustavo; Lemon, Neal; Abel, Ted; Nguyen, Peter V. – Learning & Memory, 2008
Activation of Beta-adrenergic receptors (Beta-ARs) enhances hippocampal memory consolidation and long-term potentiation (LTP), a likely mechanism for memory storage. One signaling pathway linked to Beta-AR activation is the cAMP-PKA pathway. PKA is critical for the consolidation of hippocampal long-term memory and for the expression of some forms…
Descriptors: Persistence, Stimulation, Long Term Memory, Cognitive Processes
Phenotypical Characteristics of Idiopathic Infantile Nystagmus with and without Mutations in "FRMD7"
Thomas, Shery; Proudlock, Frank A.; Sarvananthan, Nagini; Roberts, Eryl O.; Awan, Musarat; McLean, Rebecca; Surendran, Mylvaganam; Kumar, A. S. Anil; Farooq, Shegufta J.; Degg, Chris; Gale, Richard P.; Reinecke, Robert D.; Woodruff, Geoffrey; Langmann, Andrea; Lindner, Susanne; Jain, Sunila; Tarpey, Patrick; Raymond, F. Lucy; Gottlob, Irene – Brain, 2008
Idiopathic infantile nystagmus (IIN) consists of involuntary oscillations of the eyes. The familial form is most commonly X-linked. We recently found mutations in a novel gene "FRMD7" (Xq26.2), which provided an opportunity to investigate a genetically defined and homogeneous group of patients with nystagmus. We compared clinical features and eye…
Descriptors: Visual Impairments, Eye Movements, Visual Acuity, Depth Perception
Download full textDavis, Alison – National Institute of General Medical Sciences (NIGMS), 2009
Do people realize that chemistry plays a key role in helping solve some of the most serious problems facing the world today? Chemists want to find the building blocks of the chemical universe--the molecules that form materials, living cells and whole organisms. Many chemists are medical explorers looking for new ways to maintain and improve…
Descriptors: Chemistry, Public Health, Molecular Structure, Health Services
National Institute of General Medical Sciences (NIGMS), 2009
Computer advances now let researchers quickly search through DNA sequences to find gene variations that could lead to disease, simulate how flu might spread through one's school, and design three-dimensional animations of molecules that rival any video game. By teaming computers and biology, scientists can answer new and old questions that could…
Descriptors: Science Careers, Computers, Genetics, Biology
Schneider, A.; Hagerman, R. J.; Hessl, D. – Developmental Disabilities Research Reviews, 2009
Fragile X syndrome (FXS), a single gene disorder with an expanded CGG allele on the X chromosome, is the most common form of inherited cognitive impairment. The cognitive deficit ranges from mild learning disabilities to severe intellectual disability. The phenotype includes hyperactivity, short attention span, emotional problems including…
Descriptors: Genetic Disorders, Mental Retardation, Learning Disabilities, Attention Deficit Hyperactivity Disorder
Dewaele, Jean-Marc; van Oudenhoven, Jan Pieter – International Journal of Multilingualism, 2009
The present study investigates the link between multilingualism/multiculturalism, acculturation and the personality profile (as measured by the Multicultural Personality Questionnaire) of 79 young London teenagers, half of whom were born abroad and had settled down in London during their childhood "Third Culture Kids" (TCKs; Pollock…
Descriptors: Personality Measures, Adolescents, Cultural Awareness, Questionnaires
Neil, Kaesha – American Biology Teacher, 2009
Global and local climate change has become an important topic in the last few years. Concerns regarding the impact of climate changes on ecosystems in general, resources used by humans (e.g., water, energy, crops), and the intensity and frequency of natural disasters are driving the interest. Phenology is one way researchers are studying historic…
Descriptors: Natural Disasters, Climate, Plants (Botany), Environmental Influences
Macedoni-Luksic, Marta; Greiss-Hess, Laura; Rogers, Sally J.; Gosar, David; Lemons-Chitwood, Kerrie; Hagerman, Randi – Autism: The International Journal of Research and Practice, 2009
To address the specific impairment of imitation in autism, the imitation abilities of 22 children with fragile X syndrome (FXS) with and without autism were compared. Based on previous research, we predicted that children with FXS and autism would have significantly more difficulty with non-meaningful imitation tasks. After controlling for…
Descriptors: Autism, Imitation, Error Patterns, Genetic Disorders
Okoye, Namdi N. S. – College Student Journal, 2009
The study tried to examine the interaction between two independent variables of selective attention and cognitive development on Achievement in Genetics at the Secondary School level. In looking at the problem of this study three null hypotheses were generated for testing at 0.05 level of significance. Factorial Analysis of Variance design with…
Descriptors: Attention Control, Genetics, Secondary School Students, Statistical Analysis
Salerno, Theresa A. – Biochemistry and Molecular Biology Education, 2009
A multiplex allele-specific PCR analysis was developed to identify six "common" genotypes: AA, AO, BB, BO, OO, and AB. This project included a pre-laboratory exercise that provided active learning experiences and developed critical thinking skills. This laboratory resulted in many successful analyses, which were verified by student knowledge of…
Descriptors: Active Learning, Laboratory Experiments, Science Laboratories, Biochemistry
Dworzynski, Katharina; Happe, Francesca; Bolton, Patrick; Ronald, Angelica – Journal of Autism and Developmental Disorders, 2009
Factor structure and relationship between core features of autism (social impairments, communication difficulties, and restricted, repetitive behaviours or interests (RRBIs)) were explored in 189 children from the Twins Early Development Study, diagnosed with autistic spectrum disorders (ASDs) using the Development and Wellbeing Assessment (DAWBA;…
Descriptors: Twins, Autism, Factor Structure, Factor Analysis
Rommelse, Nanda N. J.; Altink, Marieke E.; Fliers, Ellen A.; Martin, Neilson C.; Buschgens, Cathelijne J. M.; Hartman, Catharina A.; Buitelaar, Jan K.; Faraone, Stephen V.; Sergeant, Joseph A.; Oosterlaan, Jaap – Journal of Abnormal Child Psychology, 2009
We aimed to assess which comorbid problems (oppositional defiant behaviors, anxiety, autistic traits, motor coordination problems, and reading problems) were most associated with Attention-Deficit/Hyperactivity Disorder (ADHD); to determine whether these comorbid problems shared executive and motor problems on an endophenotype level with ADHD; and…
Descriptors: Behavior Problems, Siblings, Hyperactivity, Anxiety
Harting, Inga; Neumaier-Probst, Eva; Seitz, Angelika; Maier, Esther M.; Assmann, Birgit; Baric, Ivo; Troncoso, Monica; Muhlhausen, Chris; Zschocke, Johannes; Boy, Nikolas P. S.; Hoffmann, Georg F.; Garbade, Sven F.; Kolker, Stefan – Brain, 2009
In glutaric aciduria type I, an autosomal recessive disease of mitochondrial lysine, hydroxylysine and tryptophan catabolism, striatal lesions are characteristically induced by acute encephalopathic crises during a finite period of brain development (age 3-36 months). The frequency of striatal injury is significantly less in patients diagnosed as…
Descriptors: Injuries, Diseases, Neonates, Patients
Bailey, Donald B., Jr.; Raspa, Melissa; Holiday, David; Bishop, Ellen; Olmsted, Murrey – American Journal on Intellectual and Developmental Disabilities, 2009
Parents of 1,105 male and 283 female children with fragile X syndrome described functional skill attainment in eating, dressing, toileting, bathing/hygiene, communication, articulation, and reading. The majority of adult children had mastered many skills independently. Most adults were verbal, used the toilet, dressed, ate independently, bathed,…
Descriptors: Sentences, Intervention, Genetic Disorders, Daily Living Skills
