Phelan-McDermid syndrome (PMS), also called 22q13.3 deletion syndrome, is a rare genetic disorder affecting at least 2,000 people worldwide (Phelan-McDermid Syndrome Foundation, 2019, How rare is Phelan-McDermid?). PMS has many distinguishing characteristics and many medical specialties have been recommended to treat the clinical features. While…

Educators will be tasked with planning for children with many different needs. The aim of this article is to provide specific information about Rubinstein-Taybi Syndrome (RTS) to those who may be interested. This syndrome is rare and has not been well researched. This article contains information about the physical, cognitive, and developmental…

Noonan syndrome (NS) is a common genetic disorder that can cause a vast array of health conditions. Characteristics of NS include specific facial features as well as a higher chance of developing congenital heart disease, failure to thrive, and vision abnormalities. These deficits may manifest as behavioral and emotional difficulties, leaving…

School psychologists are asked to provide a number of different services in schools, including evaluating and providing recommendations to educators and parents on children and adolescents with rare genetic conditions. One genetic disorder with physical, cognitive, and behavioral features is Prader-Willi syndrome (PWS). PWS is a unique genetic…

Each year, the Interagency Autism Coordinating Committee (IACC) releases its annual list of scientific advances that represent significant progress in the field. The 20 studies selected have given new insight into the underlying biology of autism spectrum disorder (ASD) and potential risk factors, examined the state of the science in early…

Each year, the Interagency Autism Coordinating Committee (IACC) releases its annual list of scientific advances that represent significant progress in the field. The 20 studies selected have given new insight into the underlying biology of autism spectrum disorder (ASD) and potential risk factors, tested approaches for improving early screening…

There is a very substantial literature over the past 50 years on the advantages of early detection and intervention on the cognitive, communicative, and social-emotional development of infants and toddlers at risk for developmental delay due to premature birth or social disadvantage. Most of these studies excluded children with severe delays or…

The phenotypic and etiologic relation between internalizing and autistic-like traits is studied using a community-based twin sample. Internalizing and autistic-like traits showed moderate phenotypic overlap but have specific genetic influences.

Tourette syndrome is a neurodevelopmental disorder believed to be genetic. The most visible symptom is the presence of tics. These involuntary movements or sounds can range from simple (sniffing, throat clearing, blinking) to complex (words or phrases, hopping, body contortions). They may be frequent for a few weeks, then fade away almost…

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…

As part of the Combating Autism Act of 2006, the members of the Interagency Autism Coordinating Committee (IACC) are required to develop an annual "Summary of Advances" to describe each year's top advances in autism spectrum disorder (ASD) research. These advances represent significant progress in the early diagnosis of ASD, understanding the…

In recent years there has been much research interest in looking for behavioural phenotypes (or specific profiles of strengths and weaknesses) that are associated with specific conditions--particularly conditions with genetic origins such as Down syndrome. This kind of information may be very helpful in alerting parents and professionals to the…

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…

Fragile X mental retardation is a disease caused by the loss of function of a single RNA-binding protein, FMRP. Identifying the RNA targets recognized by FMRP is likely to reveal much about its functions in controlling some aspects of memory and behavior. Recent evidence suggests that one of the predominant RNA motifs recognized by the FMRP…

Sensitivity theory attempts to account for the variability often observed in challenging behavior by recourse to the "aberrant motivation" of people with intellectual and developmental disabilities. In this article, we suggest that a functional analysis based on environmental (challenging environments) and biological (challenging needs) motivating…