BackgroundSmith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior.MethodsThis was an observational case series, wherein participants with SLOS underwent extensive behavioral evaluation of cognitive function, adaptive function, autism symptoms, and problem behaviors, in addition to parent report of developmental milestones. Serum and CSF were contemporaneously obtained from the majority of participants.ResultsDevelopmental milestones such as walking, talking, and toileting were uniformly delayed. Overall levels of cognitive and adaptive functioning were low; no participant received adaptive behavior scores in the average range, and the mean level of cognitive functioning in the full sample was in the moderate range of impairment. Aggressive behavior was present in nearly half of participants. Although the majority of participants had elevated scores on the gold standard autism diagnostic instruments, only about half of participants received a clinical diagnosis of autism spectrum disorder. Finally, while CSF cholesterol was not found to correlate with cognitive or adaptive functioning, both serum and CSF 7-DHC and 8-DHC (and their ratios with cholesterol) were moderately and negatively correlated with functioning in this group.ConclusionsA history of developmental delay, followed by intellectual disability, is common in individuals with SLOS. Although autism spectrum disorder appears to be a frequent diagnosis in this population, it is apparent that the low level of functioning observed in SLOS may artificially inflate scores on standard autism assessments. Our findings further support that cholesterol precursors 7-DHC and 8-DHC are important biomarkers of the level of functioning in SLOS, especially regarding cognitive abilities, and thus may be to explore as mediators within the context of treatment trials.Trial registrationClinicalTrials.gov, NCT00001721, NCT00064792Electronic supplementary materialThe online version of this article (doi:10.1186/s11689-016-9145-x) contains supplementary material, which is available to authorized users.

This pilot study examined the effects of perfectionism on blood pressure (BP) in response to repeated exposure to mental arithmetic stressors. College students (N = 30) in a laboratory setting were administered a series of challenging mathematical tasks. BP was measured at baseline and after each task. Multilevel modelling analyses revealed that BP tended to decline over the course of the mathematical tasks. However, higher levels of performance standards predicted relatively stable levels of systolic BP, whereas moderate and lower levels of standards predicted declines in systolic BP. Higher levels of self-critical perfectionism predicted generally sustained levels of diastolic BP, with moderate and low self-criticism predicting declines in diastolic BP during the repeated stressors. These preliminary results suggest that students with higher levels of perfectionism may be at risk for physiological problems associated with stress reactivity, perhaps especially so in situations in which they experience persistent stress. Although results were qualified by a relatively small sample size, effects were statistically significant and supported the importance of examining the short-term and long-term implications of the effects of perfectionism on cardiovascular function and the different implications of elevations in systolic and diastolic BP.

Young children with developmental disabilities (DD) exhibit a range of strengths and weaknesses in cognitive, language, and adaptive skills. Identifying individual patterns of abilities across these domains is important for informing interventions. This study examines how 129 toddlers with significant developmental delays and less than 10 spoken words perform across different developmental domains and assessment methods (i.e., caregiver report and clinician-administered tests). Children exhibited statistically and clinically meaningful strengths and weaknesses across developmental domains, which may have important implications for differential interventions. Caregiver-reported and clinician-rated measures of cognition, language and adaptive functioning were highly related. However, the relation between caregiver report and clinician ratings was weaker for a subgroup of children with relatively more limited expressive language compared to other children in the sample.

IntroductionYoung children with Down syndrome (DS) present with speech and language impairments very early in childhood. Historically, early language intervention for children with DS included manual signs, though recently there has been an interest in the use of speech-generating devices (SGDs). This paper examines the language and communication performance of young children with DS who participated in parent-implemented communication interventions that included SGDs. Specifically, we compared the functional vocabulary usage and communication interaction skills of children with DS who received augmented communication interventions (AC) that included an SGD with those children with DS who received spoken communication intervention (SC).MethodsTwenty-nine children with DS participated in this secondary data analysis. These children were part of one of two longitudinal RCT studies investigating the effectiveness of parent-implemented augmented communication interventions in a larger sample of 109 children with severe communication and language impairments.ResultsThere were significant differences between children with DS in the AC and SC groups in terms of the number and proportion of functional vocabulary targets used and the total vocabulary targets provided during the intervention at sessions 18 (lab)and 24 (home).DiscussionOverall, the AC interventions provided the children with a way to communicate via an SGD with visual-graphic symbols and speech output, while the children in the SC intervention were focused on producing spoken words. The AC interventions did not hinder the children’s spoken vocabulary development. Augmented communication intervention can facilitate the communication abilities of young children with DS as they are emerging spoken communicators.

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