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The WNT2 Gene Polymorphism Associated with Speech Delay Inherent to Autism
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Lin, Ping-I; Chien, Yi-Ling; Wu, Yu-Yu; Chen, Chia-Hsiang; Gau, Susan Shur-Fen; Huang, Yu-Shu; Liu, Shih-Kai; Tsai, Wen-Che; Chiu, Yen-Nan – Research in Developmental Disabilities: A Multidisciplinary Journal, 2012
Previous evidence suggests that language function is modulated by genetic variants on chromosome 7q31-36. However, it is unclear whether this region harbors loci that contribute to speech delay in autism. We previously reported that the WNT2 gene located on 7q31 was associated with the risk of autism. Additionally, two other genes on 7q31-36,…
Descriptors: Autism, Language Impairments, Language Acquisition, Genetic Disorders
Exploration of Differences in Types of Sleep Disturbance and Severity of Sleep Problems between Individuals with Cri du Chat Syndrome, Down's Syndrome, and Jacobsen Syndrome: A Case Control Study
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Maas, Anneke P. H. M.; Didden, Robert; Korzilius, Hubert; Curfs, Leopold M. G. – Research in Developmental Disabilities: A Multidisciplinary Journal, 2012
The prevalence of sleep problems in individuals with intellectual disability (ID) seems to vary between genetic syndromes associated with ID. Different types of sleep disturbances may indicate underlying causes of sleep problems and these types of sleep disturbances may vary between different genetic syndromes. We examined and compared five types…
Descriptors: Genetics, Sleep, Incidence, Mental Retardation
Memory in Intellectually Matched Groups of Young Participants with 22q11.2 Deletion Syndrome and Those with Schizophrenia
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Kravariti, Eugenia; Jacobson, Clare; Morris, Robin; Frangou, Sophia; Murray, Robin M.; Tsakanikos, Elias; Habel, Alex; Shearer, Jo – Research in Developmental Disabilities: A Multidisciplinary Journal, 2010
The 22q11.2 deletion syndrome (22qDS) and schizophrenia have genetic and neuropsychological similarities, but are likely to differ in memory profile. Confirming differences in memory function between the two disorders, and identifying their genetic determinants, can help to define genetic subtypes in both syndromes, identify genetic risk factors…
Descriptors: Memory, Schizophrenia, Congenital Impairments, Genetic Disorders
Behavioral Phenotype in Adults with Prader-Willi Syndrome
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Sinnema, Margje; Einfeld, Stewart L.; Schrander-Stumpel, Constance T. R. M.; Maaskant, Marian A.; Boer, Harm; Curfs, Leopold M. G. – Research in Developmental Disabilities: A Multidisciplinary Journal, 2011
Prader-Willi syndrome (PWS) is characterized by temper tantrums, impulsivity, mood fluctuations, difficulty with change in routine, skinpicking, stubbornness and aggression. Many studies on behavior in PWS are limited by sample size, age range, a lack of genetically confirmed diagnosis of PWS and inconsistent assessment of behavior. The aim of…
Descriptors: Check Lists, Behavior Problems, Disability Identification, Genetics
Phenotype-Environment Interactions in Genetic Syndromes Associated with Severe or Profound Intellectual Disability
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Tunnicliffe, Penny; Oliver, Chris – Research in Developmental Disabilities: A Multidisciplinary Journal, 2011
The research literature notes both biological and operant theories of behavior disorder in individuals with intellectual disabilities. These two theories of genetic predisposition and operant reinforcement remain quite distinct; neither theory on its own is sufficient to explain challenging behavior in genetic syndromes and an integrated approach…
Descriptors: Causal Models, Severity (of Disability), Severe Mental Retardation, Behavior Disorders
Electrophysiological Correlates of Semantic Processing in Williams Syndrome
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Pinheiro, Ana P.; Galdo-Alvarez, Santaigo; Sampaio, Adriana; Niznikiewicz, Margaret; Goncalves, Oscar F. – Research in Developmental Disabilities: A Multidisciplinary Journal, 2010
Williams syndrome (WS), a genetic neurodevelopmental disorder due to microdeletion in chromosome 7, has been described as a syndrome with an intriguing socio-cognitive phenotype. Cognitively, the relative preservation of language and face processing abilities coexists with severe deficits in visual-spatial tasks, as well as in tasks involving…
Descriptors: Sentences, Semantics, Language Processing, Spatial Ability