A "de novo" 4.1-megabase microdeletion of chromosome 1p34.2p34.3 has been identified by array-based comparative genomic hybridization in a young male with severely delayed development, microcephaly, pronounced hypotonia, and facial dysmorphism. The deleted region encompasses 48 genes, among them the glucose transporter 1 ("SLC2A1" or "GLUT1")…

Each year the members of the Interagency Autism Coordinating Committee identify recent research findings that made the most impact on the field. For the 2009 Summary of Advances, the IACC selected and summarized 20 studies that gave significant insight into the prevalence of autism spectrum disorder (ASD), the biology of the disorder, potential…

Previous studies have suggested that typically developing 6-month-old infants are able to discriminate between small and large numerosities. However, discrimination between small numerosities in young infants is only possible when variables continuous with number (e.g. area or circumference) are confounded. In contrast, large number discrimination…

According to the medical profession the direction and scope of reproductive services such as IVF and pre-natal screening are based on solid evidence; the evidence indicates these are effective and safe services. Moreover, women want them. As a consequence these services are usually presented to the wider community in a positive light with images…

This basic interpretive study addressed the reasons why parents seek a differential diagnosis for their child who has a developmental disability. Fourteen parents were interviewed about why they sought a label for the disabilities of their child. Participants included six parents of children with identified genetic conditions, three parents of…

Williams syndrome is a rare neurodevelopmental disorder caused by deletion of approximately 25 genes on chromosome 7q11.23. Children with the syndrome evidence large individual differences in both broad language and reading abilities. Nevertheless, as a group, children with this syndrome show a consistent pattern characterized by relative…

Individuals with Down syndrome are predisposed to show a specific behavioural phenotype, or a pattern of strengths and challenges in functioning across different domains of development. It is argued that a developmental approach to researching the Down syndrome behavioural phenotype, including an examination of the dynamic process of the unfolding…

Although research has focused primarily on the wide range of variability in the cognitive phenotype between individuals with velo-cardio-facial syndrome (VCFS), we know relatively little about the extent to which within-individual expressions of the cognitive phenotype remain stable throughout development. General cognitive functioning in the low…

Evidence suggests that visual processing is divided into the dorsal ("how") and ventral ("what") streams. We examined the normal development of these streams and their breakdown under neurological deficit by comparing performance of normally developing children and Williams syndrome individuals on two tasks: a visually guided action ("how") task,…

Williams syndrome (WS) is a genetic disorder associated with severe visuocognitive impairment. Individuals with WS also report difficulties with everyday wayfinding. To study the development of body-, environment-, and object-based spatial frames of reference in WS, we tested 45 children and adults with WS on a search task in which the participant…

This article reviews research on speech and language abilities in people with cri du chat syndrome (CCS). CCS is a rare genetic disorder, with an estimated incidence between 1 in 15,000 and 1 in 50,000 births, resulting from a deletion on the short arm of chromosome 5. In general, individuals have delayed speech and language development, and some…

Although known for its distinctive food-related behaviors, Prader-Willi syndrome is a multisystem disorder with genetic, developmental, and behavioral features. Two separate and distinct eating disorders are noted: initial feeding difficulties and failure to thrive, and later overeating. Additional outcomes observed with this disorder include…

Background: The phenotype of children and adults with fragile X syndrome (FXS) includes a number of problem behaviours such as inattention, social anxiety and aggressive outbursts. However, very little work has been conducted with young children with FXS less than 5 years of age to examine the developmental pathway of problem behaviours in this…

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…