LATEST FINDINGS IN INTELLECTUAL AND DEVELOPMENTAL DISABILITIES RESEARCH docx

LATEST FINDINGS IN INTELLECTUAL AND DEVELOPMENTAL DISABILITIES RESEARCH Edited by Üner Tan Latest Findings in Intellectual and Developmental Disabilities Research Edited by Üner Tan Published by InTech Janeza Trdine 9, 51000 Rijeka, Croatia Copyright © 2012 InTech All chapters are Open Access distributed under the Creative Commons Attribution 3.0 license, which allows users to download, copy and build upon published articles even for commercial purposes, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. After this work has been published by InTech, authors have the right to republish it, in whole or part, in any publication of which they are the author, and to make other personal use of the work. Any republication, referencing or personal use of the work must explicitly identify the original source. As for readers, this license allows users to download, copy and build upon published chapters even for commercial purposes, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. Notice Statements and opinions expressed in the chapters are these of the individual contributors and not necessarily those of the editors or publisher. No responsibility is accepted for the accuracy of information contained in the published chapters. The publisher assumes no responsibility for any damage or injury to persons or property arising out of the use of any materials, instructions, methods or ideas contained in the book. Publishing Process Manager Romana Vukelic Technical Editor Teodora Smiljanic Cover Designer InTech Design Team First published February, 2012 Printed in Croatia A free online edition of this book is available at www.intechopen.com Additional hard copies can be obtained from orders@intechweb.org Latest Findings in Intellectual and Developmental Disabilities Research, Edited by Üner Tan, p. cm. ISBN 978-953-307-865-6 Contents Preface IX Chapter 1 Üner Tan Syndrome: Review and Emergence of Human Quadrupedalism in Self-Organization, Attractors and Evolutionary Perspectives 1 Üner Tan, Yusuf Tamam, Sibel Karaca and Meliha Tan Chapter 2 Management of Children with Intellectual and Developmental Disability in an African Setting 45 Maroufou Jules Alao, Blaise Ayivi and Didier Lacombe Chapter 3 Enhancing Cognitive Performances of Individuals with Intellectual Disabilities: A Human Factors Approach 77 Michael T. Carlin Chapter 4 Genetic Aspects of Autism Spectrum Disorders: From Bench to Bedside 103 Ivanka Dimova and Draga Toncheva Chapter 5 Problematic Behaviors of Children Undergoing Physical Therapy 121 Masayuki Uesugi Chapter 6 Physical and Metabolic Fitness of Children and Adolescents with Intellectual Disability - How to Rehabilitate? 131 Calders Patrick, Elmahgoub Sami and Cambier Dirk Chapter 7 Molecular Genetics of Intellectual Disability 149 C. Bessa, F. Lopes and P. Maciel Chapter 8 Innovative Therapeutic Approaches for Improving Patient Life Condition with a Neurological Lysosomal Disease 177 Audrey Arfi, Magali Richard and Daniel Scherman VI Contents Chapter 9 Definitions and Explanations in Language, Reading and Dyslexia Research 207 Per Henning Uppstad and Finn Egil Tønnessen Chapter 10 A Social Cultural-Approach to Aphasia: Contributions from the Work Developed at a Center for Aphasic Subjects 219 Rosana do Carmo Novaes Pinto Chapter 11 Functional MRI-Based Strategy of Therapeutic rTMS Application: A Novel Approach for Post-Stroke Aphasic Patients 245 Wataru Kakuda and Masahiro Abo Chapter 12 Oral Ascorbic Acid and Alpha-Tocopherol to Reduce Behavioural Problems in Young Patients Affected of Fragile X Syndrome: A Randomized, Double-Blind, Placebo-Controlled Phase II Pilot Trial 259 Y. de Diego Otero, C. Quintero-Navarro, Rocio Calvo-Medina, R. Heredia-Farfan, L. Sanchez-Salido, E. Lima-Cabello, A. Higuero-Tapiador, I. del Arco-Herrera, I. Fernandez-Carvajal, T. Ferrando-Lucas and L. Perez-Costillas Chapter 13 The Freud-1/CC2D1A Family: Multifunctional Regulators Implicated in Mental Retardation 279 Anne M. Millar, Tatiana Souslova and Paul R. Albert Chapter 14 Fragile X Syndrome: From Pathophysiology to New Therapeutic Perspectives 303 Simona D’Antoni, Michela Spatuzza, Carmela M. Bonaccorso, Elisabetta Aloisi, Sebastiano Musumeci and Maria Vincenza Catania Chapter 15 Phenylketonuria (PKU) – A Success Story 331 William B. Hanley Chapter 16 Metachromatic Leukodystrophy Clinical, Biological and Therapeutic Aspects 351 Ilhem Barboura, Irène Maire, Salima Ferchichi and Abdelhedi Miled Chapter 17 Studies Related to Dyslexia in Chinese Characters 361 Jin Jing, Guifeng Xu, Xiuhong Li and Xu Huang Chapter 18 Dental Implications of Intellectual and Developmental Disabilities; Oral Health Status and Retention of Sealants in Intellectually Disabled Patients – 2 Years Clinical Program 369 Elzbieta Paszynska Preface This book presents reports on a wide range of areas in the field of neurological and intellectual disability. It includes habitual human quadrupedal locomotion with associated cognitive disabilities, Fragile X syndrome, autism spectrum disorders, Down syndrome, and intellectual developmental disabilities among children in an African setting. Studies are presented from researchers around the world. Each study examines aspects as wide-ranging as the genetics behind the conditions, and new and innovative therapeutic approaches. Chapter 1 describes Üner Tan syndrome (UTS), a novel syndrome in which sufferers exhibit habitual quadrupedal locomotion and declines in cognitive abilities, such as intelligence and speech. The emergence of human quadrupedalism is considered with respect to dynamical systems theory, comprising concepts such as self-organization, attractors, and evolutionary perspectives. Chapter 2 looks at research from France on the management of children with intellectual and developmental disabilities in an African setting. Conditions such as birth asphyxia, jaundice, and some genetic conditions like Down syndrome were found. It was concluded that with appropriate financial support, these conditions could be managed via ethological investigations, specialized consultations, and occupational therapies. Another approach for enhancing the performance of people with intellectual disabilities is to use knowledge of the basic processing abilities of people with intellectual disabilities to design visual displays, inducing memory-enhancing processes. This is useful in tasks involving visual attention and memory, as reported by Carlin and Heyl in Chapter 3. Other researchers focus on therapeutic approaches for improving the lives of patients. In Chapter 6, the relationship between physical and metabolic fitness and Down syndrome is examined. In addition, the enhancements that can be made by improving their diet and increasing physical activity are presented. In Chapter 12, another study suggesting how nutritional changes can have a therapeutic effect is described in relation to Fragile X syndrome. Fragile X syndrome is an inherited neurodevelopmental condition presenting behavioral and learning disabilities in X Preface addition to seizures, sensory hypersensitivity, and tissue abnormalities, Researchers Otero et al., describe the beneficial effects of antioxidants Vitamin C and E on children with this syndrome. In Chapter 5, Uesugi Masayuki reports on problematic behaviors in mentally retarded children that may disturb the efficacy of physical therapies. In Chapter 8, French researchers Arfi, Richard, and Scherman look at innovative therapeutic approaches for improving life conditions of patients with a neurological lysosomal disease. Researchers in Japan, Wataru Kakuda, and Masahiro Abo, describe a novel protocol of functional Magnetic Resonance in Chapter 11. It uses therapeutic repetitive transcranial magnetic stimulation in post-stroke patients. The researchers also discuss the future directions of therapeutic applications of this procedure with regard to clinical practice. In Chapter 16, researchers from Tunisia and France report on the clinical, biological, and therapeutic implications of Scholz’s disease or metachromatic leukodystrophy, and suggest measures to prevent progression of the disease. Elzbieta Paszynska, in Chapter 18, focuses on effective dental care methods to assist people with intellectual and developmental disabilities, especially the role of fissure sealing the posterior teeth of these individuals, regardless of age. Several studies described in the book look at the genetics of disabilities. Chapter 4 looks at the genetic aspects of autism spectrum disorders, while Chapter 7 presents a contemporary review of the genetics of intellectual disability. In particular, Chapter 7 focuses on alterations at the chromosomal and single gene level, and new technological developments such as array technologies and next-generation sequencing. Chapter 13 reports on the genetics of non-syndromic mental retardation, including the developmental dysfunction of transcriptional repression of multiple genes associated with the syndrome. The syndrome is characterized by a mutation in the CC2D1A gene located on the chromosomal region 19p13.12-13.2 in these cases. Chapter 14 describes the latest findings on the genetics of Fragile X syndrome. William B. Hanley reports on the story of phenylketonuria (PKU), an autosomal recessive genetic-metabolic disease with mental and physical disability. The author suggests that “PKU is a success story. It is the first example that a genetic disease can be treated, while adverse cognitive and physical disabilities are prevented. This has subsequently led to the successful treatment of a number of other genetic diseases” (chapter 15). Two studies included in the book deal with aspects of language. In Chapter 9, researchers Uppstad and Tonnessen from Norway suggest some rethinking of definitions used in traditional linguistic descriptions is required. They describe their [...]... Answers 6 Latest Findings in Intellectual and Developmental Disabilities Research Neurological examination found nystagmus in 10 of the 33 cases (30.3%) All of the cases showed severe truncal ataxia Babinski sign was present in nine cases (27.2%) The muscle tonus was normal with strong legs and arms in all of the cases The deep tendon reflexes were normal in the upper extremities, except in one case in the... locomotion 12 Latest Findings in Intellectual and Developmental Disabilities Research Fig 3 Examples of diagonal sequence footfall patterns in a tetrapod and a non-human primate, also showing the ground reaction forces (arrows) on the ipsilateral and contralateral forelimbs and hind limbs Notice greater ground reaction forces on the left forelimb and the contralateral right hind limb during walking on all... evolution of primates including human beings Accordingly, the size of these tori shows variations in different species of living and fossil primates, being negligible in modern humans but relatively pronounced in, for instance, fossil hominids, and apes such as chimpanzees and gorillas, and being slightly prominent in gibbons and orangutans, welldeveloped in baboons, moderately developed in macaques, but... Latest Findings in Intellectual and Developmental Disabilities Research Fig 8 Cases from Adana with Uner Tan syndrome, exhibiting habitual diagonal sequence quadrupedal locomotion Notice the fist walking visible in the left hands, bent fingers of the right hands, and the interferences of the left hands and feet due to diagonal quadrupedalism Fig 9 A case from Kars with Uner Tan syndrome exhibiting diagonal... forthcoming went on all fours and showed a number of antics, 2 Latest Findings in Intellectual and Developmental Disabilities Research imitating a dog and goat and other animals to admiration.” As reported by Tan (2010a), the UTS cases occur in consanguineous families, and the closed population the man probably belonged to suggests the possibility of such interfamilial marriages Moreover, the man was a beggar... skulls depicted in A and C) Fig 14F is a 22 Latest Findings in Intellectual and Developmental Disabilities Research skull MRI from a modern man with no visible supraorbital tori The skull presented in Fig 14G is an example of “homo sapiens sapiens” (Cro-Magnon man), who lived in Europe between 35.000 and 10.000 YA, and which is virtually identical to modern man, with very slightly prominent supraorbital... high-strain loading regime and morphology in adult fossil hominins is unrelated to mastication.” On the other hand, Fiscella and Smith (2006) reported in this context: “Understanding the function of brow ridge variation in living and fossil human populations is relevant to questions of human evolution Results agree with previous research supporting the existence of special influences between the neural and. .. body mass 18 Latest Findings in Intellectual and Developmental Disabilities Research distribution in primate weight support was also excluded: “body mass distribution is unlikely to be the sole determinant of footfall pattern in primates and other mammals.” (Young et al., 2007) We found similar body mass distributions on the footfall patterns in human quadrupeds, i.e., less support on their hands (24%... UTS Type-I and Type-II with DES, Cayman ataxia, and Joubert Syndrome With regard to genetics, UTS Type-I (without hypotonia) shows genetic heterogeneity: VLDLR (very low density lipoprotein receptor gene) on chromosome 9p24 in the Antep and 8 Latest Findings in Intellectual and Developmental Disabilities Research Canakkale families (Ozcelik et al., 2008a), WDR81 on chromosome 17p13.1-13.3 in the Iskenderun... previous stage already realized in the ranks of its ancestors.” However, this law was not entirely supported by researchers after Dollo’s time Human 24 Latest Findings in Intellectual and Developmental Disabilities Research quadrupedalism for instance, is the most impressive contradictory example of this law Accordingly, Siler and Brown (2011) stated that “Dollo’s law came into question recently with the . LATEST FINDINGS IN INTELLECTUAL AND DEVELOPMENTAL DISABILITIES RESEARCH Edited by Üner Tan Latest Findings in Intellectual and Developmental Disabilities Research. take the paper in their hands. Table 2. Questions from the Mini Mental State Examination Test and Patients’ Answers Latest Findings in Intellectual and Developmental Disabilities Research 6. Latest Findings in Intellectual and Developmental Disabilities Research 2 imitating a dog and goat and other animals to admiration.” As reported by Tan (2010a), the UTS cases occur in consanguineous