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,…

Cornelia de Lange syndrome (CdLS) is associated with repetitive and self-injurious behaviors (RBs, SIB). Evaluating children with CdLS, this study: (1) characterizes the spectrum of RBs; (2) characterizes the impact and severity of RBs including SIB; (3) describes how age and adaptive functioning relate to RBs including SIB. Fifty children…

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 present study compares the adaptive behavior profile of 18 young children with Williams syndrome (WS) and a developmentally matched group of 19 children with developmental disabilities and examines the relationship between adaptive behavior and problem behaviors in WS. Parents completed the Vineland Adaptive Behavioral Scales--Interview…

Background: Individuals with fragile-X syndrome exhibit developmental delay, hyperexcitation and social anxiety; they also show lack of attention and hyperactivity. Few studies have investigated whether levels of functioning change with increasing age. Here, we explored developmental changes across adolescence in the cognitive and behavioural…

Phelan-McDermid syndrome (PMS) is a multiple congenital anomalies and intellectual disabilities syndrome associated with a deletion of chromosome 22 terminal band 13.3. The deletion is associated with severe intellectual disabilities, absent or delayed speech, behavior problems, and autism. The objective of this study was to provide a detailed…

Background: While behavioural abnormalities are fundamental features of Rett syndrome (RTT), few studies have examined the RTT behavioural phenotype. Most of these reports have focused on autistic features, linked to the early regressive phase of the disorder, and few studies have applied standardised behavioural measures. We used a battery of…

Little evidence supports that siblings with autism exhibit the same behaviors; however, some findings suggest that level of functioning shows familial aggregation. We tested this notion among multiplex families participating with the Autism Genetic Resource Exchange (AGRE) Consortium, using scores on the "Peabody Picture Vocabulary Test-Third…

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…