Clinical variability and novel neurodevelopmental findings in 49, XXXXY syndrome.

49, XXXXY is a rare chromosomal syndrome due to double nondisjunction of the replicating X chromosome. Considered a severe variant of XXY or Klinefelter syndrome, boys with this chromosome constitution are assumed to have severe mental retardation (MR) in addition to craniofacial, genital, endocrine, and heart abnormalities. Here, we present a multidisciplinary analysis including the clinical and neurobehavioral aspects of this condition in 20 boys with 49, XXXXY who share a common phenotype and neurobehavioral profile. The phenotypic presentation of the boys with 49, XXXXY shares some characteristics with 47, XXY, but there are also other unique and distinctive features. Previously unappreciated intact nonverbal skills are evident in conjunction with moderate to severe developmental dyspraxia. Variability in clinical and cognitive functioning may reflect skewed X inactivation, mosaicism, or other factors that warrant further investigation.

Caregivers as Interventionists and Trainers: Teaching Mands to Children with Developmental Disabilities.

We evaluated the use of behavioral skills training (BST) to train caregivers to conduct procedures commonly associated with mand training. We trained two caregivers on the following procedures: (a) conducting preference assessments, (b) delivering preferred items contingent on appropriate behavior, (c) capturing and contriving motivating operations, (d) conducting probes to assess the child's current mand repertoire, (e) errorless prompting procedures using echoic prompts, (f) vocal shaping, (g) collecting data, and (h) correcting errors. We also assessed whether a trained caregiver could in turn train their spouse on these procedures. We evaluated the effects of the intervention on the frequency of child spontaneous and prompted mands. The three caregivers performed near zero percent accuracy during baseline but increased to above 80 % accuracy with training, and high performance persisted during most maintenance probes. These results were replicated for the parent who received training from their spouse. In addition, spontaneous mands were occurring more frequently than prompted mands by the end of the study. The implications of caregivers implementing mand training procedures based on Skinner's analysis of verbal behavior are discussed.

An evaluation of evidence-based interventions to increase compliance among children with autism.

We evaluated 4 evidence-based interventions to increase compliance. Three children with autism who exhibited noncompliance when asked to relinquish a preferred toy were exposed sequentially to interventions that included a reduction in response effort, differential reinforcement, and guided compliance. Results indicated that effort reduction alone was ineffective and that each participant's compliance improved after exposure to a different intervention; these results highlight the need to individualize treatments for compliance.