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Direct linkKaufmann, W. E.; Tierney, E.; Rohde, C. A.; Suarez-Pedraza, M. C.; Clarke, M. A.; Salorio, C. F.; Bibat, G.; Bukelis, I.; Naram, D.; Lanham, D. C.; Naidu, S. – Journal of Intellectual Disability Research, 2012
Background: While behavioural abnormalities are fundamental features of Rett syndrome (RTT), few studies have examined the RTT behavioural phenotype. Most of these reports have focused on autistic features, linked to the early regressive phase of the disorder, and few studies have applied standardised behavioural measures. We used a battery of…
Descriptors: Interaction, Factor Analysis, Severity (of Disability), Interpersonal Competence
Exhaustive Analysis of BH4 and Dopamine Biosynthesis Genes in Patients with Dopa-Responsive Dystonia
Clot, Fabienne; Grabli, David; Cazeneuve, Cecile; Roze, Emmanuel; Castelnau, Pierre; Chabrol, Brigitte; Landrieu, Pierre; Nguyen, Karine; Ponsot, Gerard; Abada, Myriem; Doummar, Diane; Damier, Philippe; Gil, Roger; Thobois, Stephane; Ward, Alana J.; Hutchinson, Michael; Toutain, Annick; Picard, Fabienne; Camuzat, Agnes; Fedirko, Estelle; San, Chankannira; Bouteiller, Delphine; LeGuern, Eric; Durr, Alexandra; Vidailhet, Marie; Brice, Alexis – Brain, 2009
Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of L-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the "GCH1" gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the "TH" (tyrosine hydroxylase) or "SPR" (sepiapterin…
Descriptors: Patients, Drug Therapy, Genetic Disorders, Neurological Impairments
Lindahl, Mats Gunnar – Science & Education, 2009
To make meaning of scientific knowledge in such a way that concepts and values of the life-world are not threatened is difficult for students and laymen. Ethics and morals pertaining to the use of genetic tests for hereditary diseases have been investigated and discussed by educators, anthropologists, medical doctors and philosophers giving, at…
Descriptors: Ethics, Moral Values, Genetics, Testing
Rapopart, Judith; Chavez, Alex; Greenstein, Deanna; Addington, Anjene; Gogtay, Nitin – Journal of the American Academy of Child & Adolescent Psychiatry, 2009
Clinical, demographic, and brain development data on childhood-onset schizophrenia (COS) and family, imaging and genetic data from studies of autism were reviewed. It is found that COS is preceded by and comorbid with autism/pervasive developmental disorder and schizophrenia in 30 to 50 percent of cases based on two large studies.
Descriptors: Schizophrenia, Autism, Children, Brain
Smeltzer, Sherry Stayer; Graff, Richard B.; Ahearn, William H.; Libby, Myrna E. – Research in Autism Spectrum Disorders, 2009
Choice between alternative response options has received much attention in both basic and applied research. However, there is limited study on the effects of choice of task order on responding. This study examined the effect of choice of task order on on-task behavior, duration to complete the tasks, and problem behaviors in 2 children with autism…
Descriptors: Autism, Program Effectiveness, Genetic Disorders, Behavior Problems
Phillipson, Neil; Poad, Gordon – School Science Review, 2010
With the increasing prominence of "How science works" in science courses in England and the imperative of equipping students to engage with the controversies thrown up by the advance of science, science departments need new teaching strategies. Here we describe the application of "Dramatic Enquiry" to GCSE science. The project,…
Descriptors: Science Instruction, Controversial Issues (Course Content), Teaching Methods, Inquiry
Nan, Yun; Sun, Yanan; Peretz, Isabelle – Brain, 2010
Congenital amusia is a neurogenetic disorder that affects the processing of musical pitch in speakers of non-tonal languages like English and French. We assessed whether this musical disorder exists among speakers of Mandarin Chinese who use pitch to alter the meaning of words. Using the Montreal Battery of Evaluation of Amusia, we tested 117…
Descriptors: Music, Tone Languages, Mandarin Chinese, Disabilities
Beachly, William – American Biology Teacher, 2010
I describe a quantitative approach to three case studies in evolution that can be used to challenge college freshmen to explore the power of natural selection and ask questions that foster a deeper understanding of its operation and relevance. Hemochromatosis, the peppered moth, and hominid cranial capacity are investigated with a common algebraic…
Descriptors: College Freshmen, Case Studies, Mathematics, Biology
Van Aken, Katrijn; Swillen, Ann; Beirinckx, Marc; Janssens, Luc; Caeyenberghs, Karen; Smits-Engelsman, Bouwien – Research in Developmental Disabilities: A Multidisciplinary Journal, 2010
The present study focused on the mechanism subserving the production of kinematic patterns in 21 children with 22q11.2DS (mean age=9.6 [plus or minus] 1.9; mean FSIQ=73.05 [plus or minus] 10.2) and 21 age- and IQ-matched control children (mean age=9.6 [plus or minus] 1.9; mean FSIQ=73.38 [plus or minus] 12.0) when performing a visuo-manual…
Descriptors: Feedback (Response), Motor Development, Psychomotor Skills, Genetic Disorders
Pozzi-Monzo, Maria – Journal of Child Psychotherapy, 2012
This paper explores further the vast topic of child neuropsychiatric disorders--ADHD in particular. It refers to and expands on issues debated in an earlier paper "Ritalin for whom?". In that paper, it was argued that those who benefitted most from children taking Ritalin were parents and teachers struggling with uncontained and out-of-control…
Descriptors: Genetics, Vignettes, Attention Deficit Hyperactivity Disorder, Psychotherapy
Whittington, J.; Holland, T. – Journal of Intellectual Disability Research, 2011
Background: People with Prader-Willi syndrome (PWS) may have mild intellectual impairments but less is known about their social cognition. Most parents/carers report that people with PWS do not have normal peer relationships, although some have older or younger friends. Two specific aspects of social cognition are being able to recognise other…
Descriptors: Nonverbal Communication, Mild Mental Retardation, Social Cognition, Fear
Thomas, Lisa B.; Joseph, Gayle L.; Adkins, Tracey D.; Andrade, Francisco H.; Stemple, Joseph C. – Journal of Speech, Language, and Hearing Research, 2008
Purpose: "Duchenne muscular dystrophy (DMD)" is caused by the loss of the cytoskeletal protein, dystrophin. The disease leads to severe and progressive skeletal muscle wasting. Interestingly, the disease spares some muscles. The purpose of the study was to determine the effects of dystrophin deficiency on 2 intrinsic laryngeal muscles, the…
Descriptors: Human Body, Genetic Disorders, Neurological Impairments, Animals
O'Hearn, Kirsten; Hoffman, James E.; Landau, Barbara – Developmental Science, 2010
The ability to track moving objects, a crucial skill for mature performance on everyday spatial tasks, has been hypothesized to require a specialized mechanism that may be available in infancy (i.e. indexes). Consistent with the idea of specialization, our previous work showed that object tracking was more impaired than a matched spatial memory…
Descriptors: Genetic Disorders, Object Permanence, Age, Infants
Haas, Richard H. – Developmental Disabilities Research Reviews, 2010
Autism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors, appears…
Descriptors: Autism, Mental Disorders, Diseases, Patients
Woods, Douglas W.; Piacentini, John C.; Walkup, John T. – Communique, 2010
Tourette syndrome (TS) is one of three separate tic disorders. By definition, children with TS must have at least two motor (movement) tics and one vocal (or sound tic) for at least a year. The other tic disorders are chronic tic disorder (motor or vocal tics, but not both for at least one year) and transient tic disorder (motor and/or vocal tics…
Descriptors: Intervention, School Personnel, Neurological Impairments, Behavior Modification
