Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients.
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Angelman syndrome (AS) is a neurodevelopmental disorder caused by the absence of a maternal contribution to chromosome 15q11-q13. There are four classes of AS according to molecular or cytogenetic status: maternal microdeletion of 15q11-q13 (approximately 70% of AS patients); uniparental disomy (UPD); defects in a putative imprinting centre (IM); the fourth includes 20-30% of AS individuals with biparental inheritance and a normal pattern of allelic methylation in 15q11-q13. Mutations of UBE3A have recently been identified as causing AS in the latter group. Few studies have investigated the phenotypic differences between these classes. We compared 20 non-deletion to 20 age-matched deletion patients and found significant phenotypic differences between the two groups. The more severe phenotype in the deletion group may suggest a contiguous gene syndrome. (+info)
Origins of theory of mind, cognition and communication.
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There has been a revolution in our understanding of infant and toddler cognition that promises to have far-reaching implications for our understanding of communicative and linguistic development. Four empirical findings that helped to prompt this change in theory are analyzed: (a) Intermodal coordination--newborns operate with multimodal information, recognizing equivalences in information across sensory-modalities; (b) Imitation--newborns imitate the lip and tongue movements they see others perform; (c) Memory--young infants form long-lasting representations of perceived events and use these memories to generate motor productions after lengthy delays in novel contexts; (d) Theory of mind--by 18 months of age toddlers have adopted a theory of mind, reading below surface behavior to the goals and intentions in people's actions. This paper examines three views currently being offered in the literature to replace the classical framework of early cognitive development: modularity-nativism, connectionism, and theory-theory. Arguments are marshaled to support the "theory-theory" view. This view emphasizes a combination of innate structure and qualitative reorganization in children's thought based on input from the people and things in their culture. It is suggested that preverbal cognition forms a substrate for language acquisition and that analyzing cognition may enhance our understanding of certain disorders of communication. (+info)
Cognitive modularity and genetic disorders.
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This study challenges the use of adult neuropsychological models for explaining developmental disorders of genetic origin. When uneven cognitive profiles are found in childhood or adulthood, it is assumed that such phenotypic outcomes characterize infant starting states, and it has been claimed that modules subserving these abilities start out either intact or impaired. Findings from two experiments with infants with Williams syndrome (a phenotype selected to bolster innate modularity claims) indicate a within-syndrome double dissociation: For numerosity judgments, they do well in infancy but poorly in adulthood, whereas for language, they perform poorly in infancy but well in adulthood. The theoretical and clinical implications of these results could lead to a shift in focus for studies of genetic disorders. (+info)
Behavioral methods used in the study of long-chain polyunsaturated fatty acid nutrition in primate infants.
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Domains of behavior may be broadly categorized as sensory, motor, motivational and arousal, cognitive, and social. Differences in these domains occur because of changes in brain structure and function. Docosahexaenoic acid (DHA; 22:6-23) and arachidonic acid (AA; 20:4-26) are major structural components of the brain that decrease when diets deficient in the essential fatty acids (EFA) alpha-linolenic acid and linoleic acid are consumed. Early electrophysiologic and behavioral studies in EFA-deficient rodents showed behavioral effects attributable to lower-than-normal accumulation of DHA and AA in the brain. More recently, electrophysiologic and behavioral studies in EFA-deficient primate infants and analogous studies in human infants have been conducted. The human infants were fed formulas that could result in lower-than-optimal accumulation of long-chain polyunsaturated fatty acids (LCPUFAs) in the brain during critical periods of development. This article describes the behavioral methods that have been used to study primate infants. These methods may be unfamiliar to many physicians and nutritionists who wish to read and interpret the human studies. The behavioral outcomes that have been evaluated in LCPUFA studies represent only a fraction of those available in the behavioral sciences. Specific developmental domains have been studied less often than global development, even though studies of nonhuman primates deficient in EFAs suggest that the former provide more information that could help target the underlying mechanisms of action of LCPUFAs in the brain. (+info)
Testing for symmetry in the conditional discriminations of language-trained chimpanzees.
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If subjects are taught to match Stimulus A to B and then, without further training, match B to A, they have passed a test of symmetry. It has been suggested that non-humans' lack of success on symmetry tests might be overcome by giving them a history of symmetry exemplar training, that is, by directly teaching a large number of conditional relations (e.g., AB, CD, EF,...) and also directly training the "reverse" of these relations (e.g., BA, DC, FE,...). The chimpanzee subjects of the present study, Sherman, Austin, and Lana, had already received extensive symmetry exemplar training as a result of attempts to teach a selection-based language system of lexigrams. The present study systematically subjected 2 of these chimps (Sherman and Lana), for the first time, to standard symmetry tests in controlled conditions. Both chimps failed the tests, even when their correct responses on test trials were reinforced. The findings do not support the exemplar training hypothesis, and cast doubt upon whether the chimps can pass tests of stimulus equivalence. (+info)
Cognitive factors and cochlear implants: some thoughts on perception, learning, and memory in speech perception.
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Over the past few years, there has been increased interest in studying some of the cognitive factors that affect speech perception performance of cochlear implant patients. In this paper, I provide a brief theoretical overview of the fundamental assumptions of the information-processing approach to cognition and discuss the role of perception, learning, and memory in speech perception and spoken language processing. The information-processing framework provides researchers and clinicians with a new way to understand the time-course of perceptual and cognitive development and the relations between perception and production of spoken language. Directions for future research using this approach are discussed including the study of individual differences, predicting success with a cochlear implant from a set of cognitive measures of performance and developing new intervention strategies. (+info)
Language discrimination by human newborns and by cotton-top tamarin monkeys.
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Humans, but no other animal, make meaningful use of spoken language. What is unclear, however, is whether this capacity depends on a unique constellation of perceptual and neurobiological mechanisms or whether a subset of such mechanisms is shared with other organisms. To explore this problem, parallel experiments were conducted on human newborns and cotton-top tamarin monkeys to assess their ability to discriminate unfamiliar languages. A habituation-dishabituation procedure was used to show that human newborns and tamarins can discriminate sentences from Dutch and Japanese but not if the sentences are played backward. Moreover, the cues for discrimination are not present in backward speech. This suggests that the human newborns' tuning to certain properties of speech relies on general processes of the primate auditory system. (+info)
On the origin of internal structure of word forms.
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This study shows that a corpus of proto-word forms shares four sequential sound patterns with words of modern languages and the first words of infants. Three of the patterns involve intrasyllabic consonant-vowel (CV) co-occurrence: labial (lip) consonants with central vowels, coronal (tongue front) consonants with front vowels, and dorsal (tongue back) consonants with back vowels. The fourth pattern is an intersyllabic preference for initiating words with a labial consonant-vowel-coronal consonant sequence (LC). The CV effects may be primarily biomechanically motivated. The LC effect may be self-organizational, with multivariate causality. The findings support the hypothesis that these four patterns were basic to the origin of words. (+info)