Lissencephalies are congenital malformations responsible for epilepsy and mental retardation in children. A number of distinct lissencephaly syndromes have been characterized, according to the aspect and the topography of the cortical malformation, the involvement of other cerebral structures and the identified genetic defect. A mutation in…

Derived changes in genes associated with primary microcephaly (MCPH) have been suggested to be "currently sweeping to fixation" i.e., increasing in frequency in most populations, with the likely outcome that the derived allele will completely displace the ancestral allele over time. Possible causes for this sweep include effects on human reasoning…

Current neurocognitive theories of number processing [Dehaene, S., Piazza, M., Pinel, P., & Cohen, L. (2003). Three parietal circuits for number processing. "Cognitive Neuropsychology," 20, 487-506] state that mathematical performance is made possible by two functionally and anatomically distinct subsystems of number processing: a verbal system…

The refinement of the Williams syndrome phenotype has frequently included the study of behavioral and temperamental features common to individuals with this disorder. Within this line of research, the importance of evaluating incidence of psychopathology has been increasingly recognized, with studies consistently identifying an increased risk for…

In order to investigate unique and shared characteristics and to determine factors predictive of group classification, quantitative comparisons of behavioral and emotional problems were assessed using the Developmental Behavior Checklist (DBC-P) and the Vineland Adaptive Behavior Scales in autistic disorder, Williams syndrome (WS), and…

Childhood obesity has become a problem of epidemic proportions in the United States, but much of the research has focused on prevention and intervention programs, which target the general population of school children. Overlooked in the literature are children with special needs (including autism, genetic disorders, Down syndrome, and Prader-Willi…

This article examines Gene x Environment (G x E) interactions in two comorbid developmental disorders--reading disability (RD) and attention-deficit/hyperactivity disorder (ADHD)--as a window on broader issues on G x E interactions in developmental psychology. The authors first briefly review types of G x E interactions, methods for detecting…

Background: Kinship theory suggests that genomic imprinting could account for phenotypic behaviors that increase (in the case of Angelman syndrome) or decrease (for Prader-Willi syndrome) the drive to access social resources (adult contact) depending on the imprinting parent-of-origin. Difficult to manage behaviors, such as aggression that is…

CHARGE syndrome is characterized by multiple physical abnormalities, and impaired vision and hearing. In this pilot study, communication in the early stage of language development in three one- to eight-year-old children with CHARGE syndrome was explored using video recorded free-play interaction sessions and a parental questionnaire. The children…

Sickle cell disease (SCD) complications place patients at risk for poor psychosocial adaptation, including depression and anxiety symptoms. This study aimed to test a mediator model based on the Risk and Resistance model to explore the role of intrapersonal characteristics and stress processing variables in psychosocial functioning. Participants…

Down Syndrome (DS) caused by trisomy 21 is characterized by a variety of phenotypes and involves multiple organs. Sequencing of human chromosome 21 (HSA21) and subsequently of its orthologues on mouse chromosome 16 have created an unprecedented opportunity to explore the complex relationship between various DS phenotypes and the extra copy of…

It is becoming increasingly clear that little in development is predetermined or permanently fixed. Rather, gene expression is activity dependent, and epigenesis is probabilistic. So, the study of genetic disorders needs to change from the still widely held view that developmental disorders can be accounted for in terms of intact versus impaired…

Children with genetic syndromes frequently have feeding problems and swallowing dysfunction as a result of the complex interactions between anatomical, medical, physiological, and behavioral factors. Feeding problems associated with genetic disorders may also cause feeding to be unpleasant, negative, or even painful because of choking, coughing,…

The successful inclusion of minority ethnic pupils with sickle cell disorders (SCD) raises a number of challenges for educational systems. In England, local education authorities were important drivers for innovative responses to complex needs and the former Inner London Education Authority produced guidance in 1989 on SCD in schools. Local…

Some children with autism demonstrate poor nonword repetition--a deficit considered to be a psycholinguistic marker of specific language impairment (SLI). The present study examined whether there is an SLI subtype among children with autism. We compared the language abilities of children with SLI (n = 34, M age = 11;10 S.D. = 2;3), and children…