Dana Wong

Characteristics of the broader phenotype in autism: A study of siblings using the children's communication checklist-2

Non‐autistic relatives of people with autistic disorder have an increased risk of social and communicative difficulties: this is known as the “broad phenotype.” Better methods for characterizing the broad phenotype are needed to facilitate identification of risk genes for autism. 29 siblings of 20 children with autistic disorder, 13 siblings of 9 children with PDDNOS, and 46 typically developing control children from 26 families were assessed by parental report using the Childrens Communication Checklist‐2 (CCC‐2). Groups were matched on age and IQ and siblings with autism were excluded. Group mean scores on the CCC‐2 differed on only one subscale, syntax. However, siblings of children with autism or PDDNOS were over‐represented in the tails of the distributions of several scales, and 10 (24%) scored more than 2 SD below the control mean on a total score based on all 10 subscales. Only two of these 10 children scored above threshold on one or more scales of the Autism Diagnostic Interview—Revised (ADI‐R). Children with abnormal scores on the CCC‐2 total were characterized by low‐verbal IQ and their fathers tended to score high on the social and communication scales of the Autism Quotient, a measure of the broad phenotype in adults. The CCC‐2 shows promise as a quick screening device for the broad phenotype in non‐autistic siblings of children with autism.

Are Phonological Processing Deficits Part of the Broad Autism Phenotype

Two tests of phonological processing, nonword repetition, and nonsense passage reading, were administered to 80 probands with autistic disorder or PDDNOS (index cases) and 59 typically developing controls, together with their parents and siblings. In addition, parents completed a questionnaire about history of language and literacy problems, and all participants were given tests of verbal (VIQ) and performance IQ (PIQ). Parents also completed the Autism‐Spectrum Quotient, which was used to index the broad autism phenotype. Index probands scored well below control probands on the two phonological tests. However, on neither phonological measure did index relatives differ from control relatives. Within the index group, there was no relationship between the probands level of VIQ, or age at achieving phrase speech, and phonological score of relatives. VIQ was the only measure to show any familiality within the index group. Reported history of language and literacy problems did not differentiate index parents from control parents overall, but those who were categorized as cases of the broad phenotype reported more history of language and literacy problems than did other index parents. However, they did not have poorer scores on the phonological measures. It is concluded that phonological processing deficits are not part of the broad autism phenotype.

Profiles of executive function in parents and siblings of individuals with autism spectrum disorders

Delineation of a cognitive endophenotype for autism is useful both for exploring the genetic mechanisms underlying the disorder and for identifying which cognitive traits may be primary to it. This study investigated whether first‐degree relatives of individuals with autism spectrum disorders (ASDs) demonstrate a specific profile of performance on a range of components of executive function (EF), to determine whether EF deficits represent possible endophenotypes for autism. Parents and siblings of ASD and control probands were tested on EF tasks measuring planning, set‐shifting, inhibition and generativity. ASD parents showed poorer performance than control parents on a test of ideational fluency or generativity, and ASD fathers demonstrated a weakness in set‐shifting to a previously irrelevant dimension. ASD siblings revealed a mild reduction in ideational fluency and a weakness in non‐verbal generativity when compared with control siblings. Neither ASD parents nor siblings displayed significant difficulties with planning or inhibition. These results indicated that the broad autism phenotype may not be characterized primarily by impairments in planning and cognitive flexibility, as had been previously proposed. Weaknesses in generativity emerged as stronger potential endophenotypes in this study, suggesting that this aspect of EF should play a central role in cognitive theories of autism. However, discrepancies in the EF profile demonstrated by parents and siblings suggest that factors related to age or parental responsibility may affect the precise pattern of deficits observed.

Validity of the Depression Anxiety Stress Scales in assessing depression and anxiety following traumatic brain injury

BACKGROUND Anxiety and depression following traumatic brain injury (TBI) are associated with poorer outcomes. A brief self-report questionnaire would assist in identifying those at risk, however validity of such measures is complicated by confounding symptoms of the injury. This study investigated the validity of the Depression Anxiety Stress Scales (DASS) and Hospital Anxiety and Depression Scale (HADS), in screening for clinical diagnoses of anxiety and mood disorders following TBI. METHODS One hundred and twenty-three participants with mild to severe TBI were interviewed using the SCID (Axis I) and completed the DASS and HADS. RESULTS The DASS, DASS21 and HADS scales demonstrated validity compared with SCID diagnoses of anxiety and mood disorders as measured by Area Under ROC Curve, sensitivity and specificity. Validity of the DASS depression scale benefited from items reflecting symptoms of devaluation of life, self-deprecation, and hopelessness that are not present on the HADS. Validity of the HADS anxiety scale benefited from items reflecting symptoms of tension and worry that are measured separately for the DASS on the stress scale. LIMITATIONS Participants were predominantly drawn from a rehabilitation centre which may limit the extent to which results can be generalized. Scores for the DASS21 were derived from the DASS rather than being administered separately. CONCLUSIONS The DASS, DASS21 and HADS demonstrated validity as screening measures of anxiety and mood disorders in this TBI sample. The findings support use of these self-report questionnaires for individuals with TBI to identify those who should be referred for clinical diagnostic follow-up.

Exploring variables associated with change in cognitive behaviour therapy (CBT) for anxiety following traumatic brain injury

Purpose: In a pilot randomized controlled trial, we investigated the effectiveness of a 12-weekly anxiety treatment programme adapted for individuals with moderate-severe TBI, based on cognitive behaviour therapy (CBT) and Motivational Interviewing (MI). The current study explored the variables associated with treatment response and group differences in change expectancy and working alliance. Methods: Twenty-seven participants recruited from a brain injury rehabilitation hospital were randomly assigned to MI + CBT, non-directive counselling (NDC) + CBT and treatment-as-usual and assessors were blinded to treatment conditions. Correlation and multiple regression were used to examine the association between reduction in anxiety ratings and a number of clinical, injury and cognitive variables. Random effects regression was used to examine group difference in changes in working alliance and expectancy. Results: There was a trend suggesting that greater injury severity may be predictive of poorer response to CBT and injury severity was significantly related to memory functioning. Participants receiving MI pre-treatment showed a greater increase in change expectancy at the end of CBT and at follow-up, but not at the end of MI. Conclusions: There is a need to further investigate the effectiveness of treatment for individuals with different injury severity and to explore the relationship between change expectancy and treatment outcome. Implications for Rehabilitation Whilst cognitive behaviour therapy (CBT) has demonstrated effectiveness in treating anxiety, individuals with traumatic brain injury (TBI) may have difficulty benefiting from such therapy due to injury-related cognitive limitations. Individuals with greater injury severity and/or poor memory functioning are likely to have greatest difficulty in benefiting from CBT. For these individuals it is important to monitor their use of CBT skills, adapt therapy to meet their limitations (e.g. increased repetition, intensity or treatment dosage), provide follow-up booster sessions, and assist clients to develop realistic therapy goals.

Smartphones as assistive technology following traumatic brain injury: a preliminary study of what helps and what hinders

Abstract Purpose: Smartphones have great potential as a convenient, multifunction tool to support cognition and independence following traumatic brain injury (TBI). However, there has been limited investigation of their helpful and less helpful aspects for people with TBI. We aimed to investigate patterns of smartphone use amongst individuals with TBI, identify potential barriers to use, and examine the relationships between smartphone use and daily functioning. Method: Twenty-nine participants with TBI and 33 non-injured participants completed the Smartphone Survey, and measures of subjective and objective cognitive functioning, mood, and community integration. Results: Smartphone use was equally common in both groups, and patterns of app use were similar. More participants with TBI than the comparison group listed using their smartphone as a memory aid as its main benefit. Difficulty in learning how to use the smartphone was identified by participants with TBI, however only 10% had been shown how to use it by a clinician. Those with poorer subjective cognitive function used memory/organisational apps more frequently; and higher communication app use with better social integration, in participants with TBI. Conclusions: These findings suggest that smartphones have potential in improving independence following TBI, but receiving support in using them is vital. Implications for Rehabilitation Smartphones are accessible, acceptable, convenient devices for most individuals with traumatic brain injury (TBI), and are perceived as a useful memory and organizational aid as well as having multiple other helpful functions. Use of communication apps such as text messages and social media is associated with better social and community integration in people with TBI. Direct instruction on how to use smartphone apps is more important for people with TBI than for non-injured individuals. Developers of apps designed for this population should prioritize ease of app use, large displays, and availability of technical support, while maintaining an engaging design and interface.

Cognitive Behavior Therapy to Treat Sleep Disturbance and Fatigue After Traumatic Brain Injury: A Pilot Randomized Controlled Trial

OBJECTIVE To evaluate the efficacy of adapted cognitive behavioral therapy (CBT) for sleep disturbance and fatigue in individuals with traumatic brain injury (TBI). DESIGN Parallel 2-group randomized controlled trial. SETTING Outpatient therapy. PARTICIPANTS Adults (N=24) with history of TBI and clinically significant sleep and/or fatigue complaints were randomly allocated to an 8-session adapted CBT intervention or a treatment as usual (TAU) condition. INTERVENTIONS Cognitive behavior therapy. MAIN OUTCOME MEASURES The primary outcome was the Pittsburgh Sleep Quality Index (PSQI) posttreatment and at 2-month follow-up. Secondary measures included the Insomnia Severity Index, Fatigue Severity Scale, Brief Fatigue Inventory (BFI), Epworth Sleepiness Scale, and Hospital Anxiety and Depression Scale. RESULTS At follow-up, CBT recipients reported better sleep quality than those receiving TAU (PSQI mean difference, 4.85; 95% confidence interval [CI], 2.56-7.14). Daily fatigue levels were significantly reduced in the CBT group (BFI difference, 1.54; 95% CI, 0.66-2.42). Secondary improvements were significant for depression. Large within-group effect sizes were evident across measures (Hedges g=1.14-1.93), with maintenance of gains 2 months after therapy cessation. CONCLUSIONS Adapted CBT produced greater and sustained improvements in sleep, daily fatigue levels, and depression compared with TAU. These pilot findings suggest that CBT is a promising treatment for sleep disturbance and fatigue after TBI.

Are Cognitive Screening Tools Sensitive and Specific Enough for Use After Stroke?: A Systematic Literature Review

It is estimated that up to three quarters of acute and subacute stroke survivors exhibit cognitive impairment, with many experiencing ongoing problems.1,2 Cognitive impairment can significantly compromise functional recovery, quality of life, and social engagement after stroke.2–4 Encouragingly early detection and rehabilitation can improve functional recovery of stroke-related impairments.5 Unfortunately, however, a significant amount of cognitive dysfunction is not detected by health professionals in acute and subacute settings.6 Comprehensive neuropsychological assessment using reliable and valid tools to measure multiple cognitive domains is considered the gold standard method of detecting and characterizing cognitive dysfunction after stroke. However, neuropsychological assessments are often considered too expensive and lengthy to be routinely administered to patients with stroke. In an attempt to improve detection of cognitive impairments, while managing expense, many national stroke clinical management guidelines now recommend the use of screening measures to detect cognitive impairment.7–9 If cognitive difficulties are detected during this screening process, comprehensive assessment and intervention is then recommended. The Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) are 2 screening tools that are regularly used in clinical practice. Although these tests are commonly used to detect cognitive impairment in dementia settings, neither was specifically designed for use after stroke. The profile of cognitive impairment after stroke is heterogeneous, and focal impairments such as dysphasia, dyspraxia, unilateral inattention, and agnosia are often observed. Therefore, we cannot assume that reliability and validity of cognitive screening tools found in other clinical populations will be comparable in stroke. It is acknowledged that numerous reliability and validity indices are important to consider when evaluating neuropsychological measures. However, when considering the use of cognitive screening measures, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) are particularly important to ensure patients with …

Cognitive behavioural therapy for post-stroke fatigue and sleep disturbance: a pilot randomised controlled trial with blind assessment

ABSTRACT The objective of this study was to evaluate the effectiveness of individual cognitive behavioural therapy (CBT) for post-stroke fatigue and sleep disturbance compared to treatment as usual (TAU). In a parallel two-group pilot randomised controlled trial of 15 participants, nine were allocated to eight weekly sessions of adapted CBT and six continued usual care rehabilitation. The primary outcome was the Fatigue Severity Scale (FSS-7) at two and four months from baseline. Secondary outcomes included measures of sleep, mood and quality of life. Outcomes were assessed by a rater who was blind to group membership. At the four-month endpoint, the CBT group demonstrated significantly reduced fatigue relative to TAU (FSS-7 mean difference: 1.92, 95% CI: 0.24 to 3.60). Significant group differences also emerged for sleep quality and depression, favouring the CBT group. Insomnia and physical quality of life improved immediately post-therapy but were no longer superior to TAU at follow-up. Overall, CBT is a promising treatment for improving post-stroke fatigue, sleep quality and depression. Gains were maintained for two months after therapy cessation and represented large treatment effects. These findings highlight the feasibility of the intervention and warrant extension to a phase III clinical trial.

Feasibility and Efficacy of Brief Computerized Training to Improve Emotion Recognition in Premanifest and Early-Symptomatic Huntington's Disease.

OBJECTIVES Deficits in the recognition of negative emotions emerge before clinical diagnosis in Huntingtons disease (HD). To address emotion recognition deficits, which have been shown in schizophrenia to be improved by computerized training, we conducted a study of the feasibility and efficacy of computerized training of emotion recognition in HD. METHODS We randomly assigned 22 individuals with premanifest or early symptomatic HD to the training or control group. The training group used a self-guided online training program, MicroExpression Training Tool (METT), twice weekly for 4 weeks. All participants completed measures of emotion recognition at baseline and post-training time-points. Participants in the training group also completed training adherence measures. RESULTS Participants in the training group completed seven of the eight sessions on average. Results showed a significant group by time interaction, indicating that METT training was associated with improved accuracy in emotion recognition. CONCLUSIONS Although sample size was small, our study demonstrates that emotion recognition remediation using the METT is feasible in terms of training adherence. The evidence also suggests METT may be effective in premanifest or early-symptomatic HD, opening up a potential new avenue for intervention. Further study with a larger sample size is needed to replicate these findings, and to characterize the durability and generalizability of these improvements, and their impact on functional outcomes in HD. (JINS, 2017, 23, 314-321).