Smith-Magenis syndrome (SMS) is a rare genetic syndrome. Students with SMS have a neurobehavioural phenotype which has been characterised as challenging for both parents and teachers. Challenging behaviour often has a negative impact on the person's learning ability and is a hindrance in the learning environment. Challenging behaviour also impacts…

This pilot study investigates the feasibility and assesses the impact of "Lactobacillus plantarum" PS128 probiotics on the neurological function in Rett syndrome. We conducted a randomized, double-blind, and placebo-controlled trial on Rett syndrome with MECP2 mutation aged between 1 and 50 years in Taiwan. In this pilot study,…

Objective: This study aimed to investigate the relationship between Cognitive Disengagement Syndrome (CDS) symptoms in children/adolescents and their parents within the Turkish population, examining the association with co-occurring ADHD symptoms, peer/social relationships, and total difficulties. Method: The study included 229 parents aged 18 to…

The aim of this study is to use Q methodology to explore how school staff experience the behaviours of children with Smith-Magenis Syndrome (SMS) in school and how they manage working with these children. Q methodology utilises by-person factor analysis to investigate subjectivity. Fourteen school staff of students with SMS in Norway participated…

Smith-Magenis syndrome (SMS) is a genetic syndrome most often caused by a deletion on chromosome 17 or more rarely by a mutation in the retinoic acid-induced 1 gene. The aim of this study was to investigate the Developmental Behavior Checklist (DBC) profile of persons with SMS and the associations between behavioural and emotional problems, age,…

The experience of having a rare disorder was summarised in a large study as 'falling outside the vast field of knowledge of the professionals'. Parents (31 mothers and 17 fathers) of 32 persons with Smith-Magenis syndrome (SMS) participated in this study. A phenomenological approach was used to analyse the data into topics and themes. Four themes…

Background: The present study aimed at investigating mother-child dyadic co-regulation patterns in dyads with children with intellectual disability (ID). Method: 24 children paired for developmental age and vocabulary size (8 with chromosome 14 aberrations, 8 with Down syndrome, and 8 with typical development) and their mothers participated in the…

Background: There is limited research documenting the health and/or psychological services accessed by adults with rare genetic syndromes who engage in challenging behaviour. The study documented service receipt and associations with person characteristics. Method: Thirty-two parents of adults with rare genetic syndromes completed an adapted…

Duchenne muscular dystrophy (DMD) is a progressive genetic condition that affects both muscle and brain. Children with DMD are at risk of psycho-social difficulties such as poor academic achievement and behavioural and socio-emotional problems. This article by Janet Hoskin and Angela Fawcett, both from the University of Swansea, describes how 34…

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…

Mothers of adolescents and adults with fragile X syndrome (FXS) are faced with high levels of parenting stress. The extent to which mothers are negatively impacted by this stress, however, may be influenced by their own genetic status. The present study uses a diathesis-stress model to examine the ways in which a genetic vulnerability in mothers…

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…

Background: Attention-deficit/hyperactivity disorder (ADHD) symptoms and mathematics ability are associated, but little is known about the genetic and environmental influences underlying this association. Methods: Data came from more than 6,000 twelve-year-old twin pairs from the UK population-representative Twins Early Development Study. Parents…

Background: The increased interest in social interaction in Williams-Beuren syndrome (WBS) is evident from infancy onwards, together not only with increased empathy, positive interpersonal bias, but also with social disinhibition. Previous studies have described behavioural and emotional problems as being widely represented in WBS. There is…

Twin children from Australia, Scandinavia, and the United States were assessed for inattention, hyperactivity-impulsivity, and reading across the first 3 school years. Univariate behavior-genetic analyses indicated substantial heritability for all three variables in all years. Longitudinal analyses showed one genetic source operating across the…