In January 2024, building on the Genomics Beyond Health report, the Department for Education (DfE), with co-funding from the Government Office for Science (GO-Science), commissioned Ipsos UK through the Futures Procurement Framework to understand the potential future risks and opportunities of the use of genomics in education. The Government…

Background: The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). Methods: This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first-hand experience of clinicians who…

This paper discusses language use and identity patterns in ethnic minority/ethnically heterogeneous multigenerational deaf families in Romania, where at least one of the family members belongs to the ethnic Hungarian minority. Early childhood and school linguistic socialization, language use within the family, and cross-generational transmission…

Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic…

Sleep problems are common in Rett syndrome and other neurogenetic syndromes. Actigraphy is a cost-effective, objective method for measuring sleep. Current guidelines require caregiver-reported bed and wake times to facilitate actigraphy data scoring. The current study examined missingness and consistency of caregiver-reported bed and wake times…

To assess whether genetic test results identifying the cause of a child's autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving…

3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric disorders. However, the full spectrum of behavioral phenotypes associated with 3q29del is still evolving. Individuals with 3q29del (n = 96, 60.42% male) or their guardian completed the Achenbach Child or Adult Behavior…

An explanation for the social dysfunction observed in Williams syndrome may be deficits in social cognition. This study explored aspects of social cognition in children with Williams syndrome with different genotypes. The 12 participants included one with a 1.1 Mb deletion that retained the GTF2IRD1, GTF2I, and GTF2IRD2 genes, seven with a 1.5 Mb…

Social impairments are common features of 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). The Ecological Momentary Assessment (EMA) allowed access to daily-life information in order to explore the phenomenology of social interactions. 32 individuals with 22q11DS, 26 individuals with ASD and 44 typically developing peers…

Communication deficits have a substantial impact on quality of life for individuals with Angelman syndrome (AS) and their families, but limited qualitative work exists to support the necessary content of measures aiming to assess communication for these individuals. Following best practices for concept elicitation studies, we conducted individual…

Individuals with Williams Syndrome (WS) are hypersocial, overfriendly, and experience social skills deficits that may adversely impact their social outcomes. This study examined the relation between social skills, friendship quality, and feelings of loneliness for adults with WS as reported by 114 parent-adult with WS dyads. Results indicate that…

Loss of social supports and community programs due to lockdowns and other measures associated with COVID-19 has been linked to concerns over mental health and feelings of isolation. These challenges can be particularly acute for the elderly and people living with chronic or pervasive health conditions. "Dance for PD," a program…

Objective: To use a family genetic study to evaluate familial risk of obsessive compulsive disorder (OCD) and common comorbid illnesses in first-degree relatives of pediatric-onset probands with primary OCD. Method: One hundred and thirty youth with OCD and their 133 siblings and 241 parents and 49 pediatric controls were directly evaluated along…

Speech problems affect about 66% of children with classic galactosemia (CG), but limited evidence is reported on early motor and sensory motor development in this at-risk population. Research has been focused on speech and language development, leaving a paucity of data on motor and sensory differences. This paper describes preliminary data…

Transition from primary to secondary school is an educational milestone that coincides with other key developmental changes associated with the onset of adolescence. Although previous studies have examined the impact of school transition on autistic students, no studies thus far have examined whether the impacts experienced are similar across…