Frontal dysconnectivity in 22q11.2 deletion syndrome: an atlas-based functional connectivity analysis

Background

22q11.2 deletion syndrome (22q11DS) is a neurodevelopmental syndrome associated with deficits in cognitive and emotional processing. This syndrome represents one of the highest risk factors for the development of schizophrenia. Previous studies of functional connectivity (FC) in 22q11DS report aberrant connectivity patterns in large-scale networks that are associated with the development of psychotic symptoms.

Methods

In this study, we performed a functional connectivity analysis using the CONN toolbox to test for differential connectivity patterns between 54 individuals with 22q11DS and 30 healthy controls, between the ages of 17–25 years old. We mapped resting-state fMRI data onto 68 atlas-based regions of interest (ROIs) generated by the Desikan-Killany atlas in FreeSurfer, resulting in 2278 ROI-to-ROI connections for which we determined total linear temporal associations between each. Within the group with 22q11DS only, we further tested the association between prodromal symptoms of psychosis and FC.

Results

We observed that relative to controls, individuals with 22q11DS displayed increased FC in lobar networks involving the frontal–frontal, frontal–parietal, and frontal–occipital ROIs. In contrast, FC between ROIs in the parietal–temporal and occipital lobes was reduced in the 22q11DS group relative to healthy controls. Moreover, positive psychotic symptoms were positively associated with increased functional connections between the left precuneus and right superior frontal gyrus, as well as reduced functional connectivity between the bilateral pericalcarine. Positive symptoms were negatively associated with increased functional connectivity between the right pericalcarine and right postcentral gyrus.

Conclusions

Our results suggest that functional organization may be altered in 22q11DS, leading to disruption in connectivity between frontal and other lobar substructures, and potentially increasing risk for prodromal psychosis.

     

Neural correlates of socio-emotional perception in 22q11.2 deletion syndrome

Background

Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this study, we investigated neural substrates of socio-emotional perception.

Methods

We used event-related functional magnetic resonance imaging (fMRI) to explore neural activity in individuals with 22q11DS and healthy controls during the visualization of stimuli varying in social (social or non-social) or emotional (positive or negative valence) content.

Results

Neural hyporesponsiveness in regions of the default mode network (inferior parietal lobule, precuneus, posterior and anterior cingulate cortex and frontal regions) in response to social versus non-social images was found in the 22q11DS population compared to controls. A similar pattern of activation for positive and negative emotional processing was observed in the two groups. No correlation between neural activation and social functioning was observed in patients with the 22q11DS. Finally, no social × valence interaction impairment was found in patients.

Conclusions

Our results indicate atypical neural correlates of social perception in 22q11DS that appear to be independent of valence processing. Abnormalities in the social perception network may lead to social impairments observed in 22q11DS individuals.

     

Visual perception and processing in children with 22q11.2 deletion syndrome: associations with social cognition measures of face identity and emotion recognition

Background

People with 22q11.2 deletion syndrome (22q11DS) have difficulty processing social information including facial identity and emotion processing. However, difficulties with visual and attentional processes may play a role in difficulties observed with these social cognitive skills.

Methods

A cross-sectional study investigated visual perception and processing as well as facial processing abilities in a group of 49 children and adolescents with 22q11DS and 30 age and socio-economic status-matched healthy sibling controls using the Birmingham Object Recognition Battery and face processing sub-tests from the MRC face processing skills battery.

Results

The 22q11DS group demonstrated poorer performance on all measures of visual perception and processing, with greatest impairment on perceptual processes relating to form perception as well as object recognition and memory. In addition, form perception was found to make a significant and unique contribution to higher order social-perceptual processing (face identity) in the 22q11DS group.

Conclusions

The findings indicate evidence for impaired visual perception and processing capabilities in 22q11DS. In turn, these were found to influence cognitive skills needed for social processes such as facial identity recognition in the children with 22q11DS.

     

The social brain network in 22q11.2 deletion syndrome: a diffusion tensor imaging study

Background

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a neurogenetic disorder that is associated with a 25-fold increase in schizophrenia. Both individuals with 22q11.2DS and those with schizophrenia present with social cognitive deficits, which are putatively subserved by a network of brain regions that are involved in the processing of social cognitive information. This study used two-tensor tractography to examine the white matter tracts believed to underlie the social brain network in a group of 57 young adults with 22q11.2DS compared to 30 unaffected controls.

Results

Results indicated that relative to controls, participants with 22q11.2DS showed significant differences in several DTI metrics within the inferior fronto-occipital fasciculus, cingulum bundle, thalamo-frontal tract, and inferior longitudinal fasciculus. In addition, participants with 22q11.2DS showed significant differences in scores on measures of social cognition, including the Social Responsiveness Scale and Trait Emotional Intelligence Questionnaire. Further analyses among individuals with 22q11.2DS demonstrated an association between DTI metrics and positive and negative symptoms of psychosis, as well as differentiation between individuals with 22q11.2DS and overt psychosis, relative to those with positive prodromal symptoms or no psychosis.

Conclusions

Findings suggest that white matter disruption, specifically disrupted axonal coherence in the right inferior fronto-occipital fasciculus, may be a biomarker for social cognitive difficulties and psychosis in individuals with 22q11.2DS.

     

Understanding others: a pilot investigation of cognitive and affective facets of social cognition in patients with 22q11.2 deletion syndrome (22q11DS)

Background

Although significant impairments in the affective and cognitive facets of social cognition have been highlighted in patients with 22q11.2 deletion syndrome (22q11DS) in previous studies, these domains have never been investigated simultaneously within the same group of participants. Furthermore, despite theoretical evidence, associations between these two processes and schizotypal symptoms or social difficulties in this population have been scarcely examined.

Methods

Twenty-nine participants with 22q11DS and 27 typically developing controls (N = 5 siblings; N = 22 unrelated controls) aged between 11 and 21 years participated in the study. Both groups were matched for age and gender distribution. Two computerized social cognition tasks evaluating perspective and emotion recognition abilities were administered to all participants. The levels of schizotypal trait expression and social functioning were further investigated in both groups, based on a validated self-report questionnaire (Schizotypal Personality Questionnaire) and parental interview (Vineland Adaptive Behavior Scales).

Results

Participants with 22q11DS exhibited lower perspective-taking and emotion recognition capacities than typically developing controls. The two socio-cognitive dimensions investigated here were further correlated in healthy controls. The efficiency of perspective-taking processes (response time) was marginally related to the degree of schizotypal trait expression in patients with 22q11DS.

Conclusions

This study first provides support for significant deficits in two core facets of social cognition in 22q11DS. The associations observed between the experimental tasks and measures of social functioning or schizotypal symptoms in 22q11DS open promising research avenue, which should be more deeply investigated in future studies.

     

Face processing in 22q11.2 deletion syndrome: atypical development and visual scanning alterations

Background

Previous research links social difficulties to atypical face exploration in 22q11.2 deletion syndrome (22q11.2DS). Two types of face processing are distinguished: configural (CFP) and featural (FFP). CFP develops later in life and plays an important role in face and emotion recognition abilities. Recent studies reported atypical development of CFP in several neurodevelopmental disorders. Taking previous reports of atypical face exploration one step further, our study aims at characterizing face processing in children and adolescents with 22q11.2DS. First, we sought to identify biases in the first two fixation positions on faces and to detect differences between CFP and FFP in 22q11.2DS using eye-tracking technology. Second, we investigated the developmental trajectories of CFP and FFP using accuracy data from follow-up evaluation.

Methods

Seventy-five individuals with 22q11.2DS and 84 typically developed (TD) individuals (aged 6–21 years) completed a discrimination task (“Jane task”) inducing CFP and FFP in an eye-tracking setting. Thirty-six individuals with 22q11DS and 30 TD from our sample completed a longitudinal follow-up evaluation.

Results

Findings revealed that individuals with 22q11.2DS demonstrate an early bias toward the mouth region during the initial fixations on the faces and reduced flexibility exploration of the faces, with a reduced number of transitions between faces and longer fixations compared to the TD group. Further, scanpaths did not differ between CFP and FFP in the 22q11.2DS group. Longitudinal analysis of accuracy data provided evidence for atypical development of CFP in 22q11.2DS.

Conclusions

The current study brings new evidence of altered face exploration in 22q11.2DS and identifies developmental mechanisms that may contribute to difficulties impacting social interactions in the syndrome.

     

Longitudinal Diffusion Tensor Imaging Detects Recovery of Fractional Anisotropy Within Traumatic Axonal Injury Lesions

Background

Traumatic axonal injury (TAI) may be reversible, yet there are currently no clinical imaging tools to detect axonal recovery in patients with traumatic brain injury (TBI). We used diffusion tensor imaging (DTI) to characterize serial changes in fractional anisotropy (FA) within TAI lesions of the corpus callosum (CC). We hypothesized that recovery of FA within a TAI lesion correlates with better functional outcome.

Methods

Patients who underwent both an acute DTI scan (≤day 7) and a subacute DTI scan (day 14 to inpatient rehabilitation discharge) at a single institution were retrospectively analyzed. TAI lesions were manually traced on the acute diffusion-weighted images. Fractional anisotropy (FA), apparent diffusion coefficient (ADC), axial diffusivity (AD), and radial diffusivity (RD) were measured within the TAI lesions at each time point. FA recovery was defined by a longitudinal increase in CC FA that exceeded the coefficient of variation for FA based on values from healthy controls. Acute FA, ADC, AD, and RD were compared in lesions with and without FA recovery, and correlations were tested between lesional FA recovery and functional recovery, as determined by disability rating scale score at discharge from inpatient rehabilitation.

Results

Eleven TAI lesions were identified in 7 patients. DTI detected FA recovery within 2 of 11 TAI lesions. Acute FA, ADC, AD, and RD did not differ between lesions with and without FA recovery. Lesional FA recovery did not correlate with disability rating scale scores.

Conclusions

In this retrospective longitudinal study, we provide initial evidence that FA can recover within TAI lesions. However, FA recovery did not correlate with improved functional outcomes. Prospective histopathological and clinical studies are needed to further elucidate whether lesional FA recovery indicates axonal healing and has prognostic significance.

     

Visual memory profile in 22q11.2 microdeletion syndrome: are there differences in performance and neurobiological substrates between tasks linked to ventral and dorsal visual brain structures? A cross-sectional and longitudinal study

Background

Children affected by the 22q11.2 deletion syndrome (22q11.2DS) have a specific neuropsychological profile with strengths and weaknesses in several cognitive domains. Specifically, previous evidence has shown that patients with 22q11.2DS have more difficulties memorizing faces and visual-object characteristics of stimuli. In contrast, they have better performance in visuo-spatial memory tasks. The first focus of this study was to replicate these results in a larger sample of patients affected with 22q11.2DS and using a range of memory tasks. Moreover, we analyzed if the deficits were related to brain morphology in the structures typically underlying these abilities (ventral and dorsal visual streams). Finally, since the longitudinal development of visual memory is not clearly characterized in 22q11.2DS, we investigated its evolution from childhood to adolescence.

Methods

Seventy-one patients with 22q11.2DS and 49 control individuals aged between 9 and 16 years completed the Benton Visual Retention Test (BVRT) and specific subtests assessing visual memory from the Children’s Memory Scale (CMS). The BVRT was used to compute spatial and object memory errors. For the CMS, specific subtests were classified into ventral, dorsal, and mixed subtests. Longitudinal data were obtained from a subset of 26 patients and 22 control individuals.

Results

Cross-sectional results showed that patients with 22q11.2DS were impaired in all visual memory measures, with stronger deficits in visual-object memory and memory of faces, compared to visuo-spatial memory. No correlations between morphological brain impairments and visual memory were found in patients with 22q11.2DS. Longitudinal findings revealed that participants with 22q11.2DS made more object memory errors than spatial memory errors at baseline. This difference was no longer significant at follow-up.

Conclusions

Individuals with 22q11.2DS have impairments in visual memory abilities, with more pronounced difficulties in memorizing faces and visual-object characteristics. From childhood to adolescence, the visual cognitive profile of patients with 22q11.2DS seems globally stable even though some processes show an evolution with time. We hope that our results will help clinicians and caregivers to better understand the memory difficulties of young individuals with 22q11.2DS. This has a particular importance at school to facilitate recommendations concerning intervention strategies for these young patients.

     

Associations between social cognition,skills, and function and subclinical negative and positive symptoms in 22q11.2 deletion syndrome

Background

Identification of the early signs of schizophrenia would be a major achievement for the early intervention and prevention strategies in psychiatry. Social impairments are defining features of schizophrenia. Impairments of individual layers of social competencies are frequently described in individuals with 22q11.2 deletion syndrome (22q11.2DS), who have high risk of schizophrenia. It is unclear whether and to what extent social impairments associate with subclinical negative and positive symptoms in 22q11.2DS, and which layer of social impairments are more correlated with schizophrenia-related symptoms. The aims of this study were to conduct a comprehensive investigation of social impairments at three different levels (function, skill, and cognition) and their interrelationship and to determine to what degree the social impairments correlate to subclinical levels of negative and positive symptoms, respectively, in a young cohort of 22q11.2DS not diagnosed with schizophrenia.

Methods

The level of social impairment was addressed using questionnaires and objective measures of social functioning (The Adaptive Behavior Assessment System), skills (Social Responsiveness Scale), and cognition (The Awareness of Social Inference Test and CANTAB Emotional Recognition Task), and the presence of subclinical symptoms of schizophrenia were evaluated using the Structured Interview for Prodromal Syndromes in a cross-sectional case-control study of 29 cases and 29 controls, aged 12 to 25 years. Association between social impairment and negative and positive symptoms levels was examined in cases only.

Results

Subjects with 22q11.2DS were highly impaired in social function, social skills, and social cognition (p?≤?6.2?×?10^?9) relative to control peers and presented with more negative (p?=?5.8?×?10^?11) and positive (p?=?7.5?×?10^?4) symptoms. In particular, social functional and skill levels were highly associated with notably subclinical negative symptoms levels.

Conclusions

This study shows strong correlations between levels of social impairments and subclinical negative and positive symptoms. However, longitudinal studies are required to show if social impairments represent early disease manifestations. If parental or self-reporting suggests severe social impairment, it should advocate for clinical awareness not only to social deficits per se but also of potential subclinical psychosis symptoms.

     

Genomic Disorders in Psychiatry—What Does the Clinician Need to Know?

Purpose of Review

The purpose of this review is to summarize the role of genomic disorders in various psychiatric conditions and to highlight important recent advances in the field that are of potential clinical relevance.

Recent Findings

Genomic disorders are caused by large rare recurrent deletions and duplications at certain chromosomal “hotspots” (e.g., 22q11.2, 16p11.2, 15q11-q13, 1q21.1, 15q13.3) across the genome. Most overlap multiple genes, affect development, and are associated with variable cognitive and other neuropsychiatric expression. Although individually rare, genomic disorders collectively account for a significant minority of intellectual disability, autism spectrum disorder, and schizophrenia.

Summary

Genome-wide chromosomal microarray analysis is capable of detecting all genomic disorders in a single test, offering the first opportunity for routine clinical genetic testing in psychiatric practice.

     

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

Background

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders that are caused by abnormal expression of imprinted genes in the 15q11-13 region. Dysregulation of genes located in this region has been proposed as a susceptibility factor for autism spectrum disorder (ASD) in both disorders.

Methods

This study aimed to explore symptoms of ASD in 25 PWS and 19 AS individuals aged between 1 and 39 years via objective assessment. Participants completed the Autism Diagnostic Observation Schedule-2nd Edition (ADOS-2) and a developmentally or age-appropriate intellectual functioning assessment. All participants had their genetic diagnosis confirmed using DNA methylation analysis and microarray testing of copy number changes within the 15q11-13 region.

Results

Participants with PWS had significantly higher overall and social affect calibrated severity scores (CSS) on the ADOS-2 compared to AS participants (p?=?.0055 and .0015, respectively), but the two groups did not differ significantly on CSS for the repetitive and restricted behaviour domain.

Conclusions

PWS cases presented with greater symptoms associated with ASD compared to individuals with AS. Mental health issues associated with PWS may contribute to elevated symptoms of ASD, particularly in adolescents and adults with PWS.

     

Biomarkers study in atypical dementia: proof of a diagnostic work-up

Background

An early differentiation between Alzheimer’s Disease (AD) and other dementias is crucial for an adequate patients’ management, albeit it may result difficult for the occurrence of “atypical presentations.” Current diagnostic criteria recognize the importance of biomarkers for AD diagnosis, but still an optimal diagnostic work-up isn’t available.

Objective

Evaluate the utility and reproducibility of biomarkers and propose an “optimal” diagnostic work-up in atypical dementia.

Methods

(1) a retrospective selection of “atypical dementia cases”; (2) a repetition of diagnostic assessment by two neurologists following two different diagnostic work-ups, each consisting of multiple steps; (3) a comparison between diagnostic accuracy and confidence reached at each step by both neurologists and evaluation of the inter-rater agreement.

Results

In AD, regardless of the undertaken diagnostic work-up, a significant gain in accuracy was reached by both neurologists after the second step, whereas in frontotemporal dementia (FTD), adding subsequent steps was not always sufficient to increase significantly the baseline accuracy. A relevant increment in diagnostic confidence was detectable after studying pathophysiological markers in AD, and after assessing brain metabolism in FTD. The inter-rater agreement was higher at the second step for the AD group when the pathophysiological markers were available and for the FTD group when the results of FDG-PET were accessible.

Conclusions

In atypical cases of dementia, biomarkers significantly raise diagnostic accuracy, confidence, and agreement. This study introduces a proof of diagnostic work-up that combines imaging and CSF biomarkers and suggests distinct ways to proceed on the basis of a greater diagnostic likelihood.

     

Current pharmacologic options for patients with Alzheimer's disease

Background

The aim of the current study was to provide general practitioners with an overview of the available treatment options for Alzheimer's disease (AD). Since general practitioners provide the majority of medical care for AD patients, they should be well versed in treatment options that can improve function and slow the progression of symptoms.

Design

Biomedical literature related to acetylcholinesterase inhibitors (AChEIs) was surveyed. In the United States, there are four AChEIs approved for the treatment of AD: tacrine, donepezil, rivastigmine, and galantamine. There are other agents under investigation, but at present, AChEIs are the only approved drug category for AD treatment.

Measurements and Main Results

AD is becoming a major public health concern and underdiagnosis is a significant problem (with only about half of AD patients being diagnosed and only half of those diagnosed actually being treated). Clinical trials have demonstrated that patients with AD who do not receive active treatment decline at more rapid rates than those who do.

Conclusions

Given that untreated AD patients show decline in three major areas (cognition, behavior, and functional ability), if drug treatment is able to improve performance, maintain baseline performance over the long term, or allow for a slower rate of decline in performance, each of these outcomes should be viewed a treatment success.

     

Executive functioning in Cornelia de Lange syndrome: domain asynchrony and age-related performance

Background

The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment.

Methods

Participants were 24 individuals with CdLS aged 13–42 years (M?=?22; SD?=?8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15–33 years (M?=?24; SD?=?5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests.

Results

Individuals with CdLS showed significantly greater impairment on tasks requiring flexibility and inhibition (rule switch) and on forwards span capacity. These impairments were also reported in the parent/carer-rated questionnaire measures. Backwards Digit Span was significantly negatively correlated with chronological age in CdLS, indicating increased deficits with age. This was not identified in individuals with DS.

Conclusions

The relative deficits in executive functioning task performance are important in understanding the behavioural phenotype of CdLS. Prospective longitudinal follow-up is required to examine further the changes in executive functioning with age and if these map onto observed changes in behaviour in CdLS. Links with recent research indicating heightened responses to oxidative stress in CdLS may also be important.

     

Muscle sympathetic nerve activity peaks in the first trimester in healthy pregnancy: a longitudinal case study

Objective and methods

Muscle sympathetic nerve activity and baroreflex sensitivity were examined at rest before, during (weeks 6, 11, 17, 22, 25, 33 and 36) and after a normotensive pregnancy.

Results

Muscle sympathetic nerve activity is elevated during pregnancy with a large peak in the first trimester (Δ17 bursts/min) and a secondary peak in the third trimester (Δ11 bursts/min). Cardiac baroreflex sensitivity peaked in the first trimester (10 vs. 6 ms/mmHg pre-pregnancy), whereas sympathetic baroreflex sensitivity was greater throughout.

Interpretation

The increase in sympathetic outflow early in pregnancy cannot be explained by a reduction in baroreflex sensitivity, while the secondary increase in burst frequency in the third trimester may, in part, be explained by the elevated heart rate.

     

A thoracic spinal bone giant cell tumor in a skeletally immature girl. A case report and literature review

Purpose

Giant cell tumors (GCT) are benign primary bone tumors, locally aggressive, affecting in long bones in young adults during the third decade. It is rare to experience this lesion in skeletally immature patients. GCT are related to a risk of local recurrence and malignant transformation.

Method

We report a rare case of a giant cell tumor of the thoracic spine in a skeletally immature girl presenting with a painful right scoliosis.

Results

MRI, CT scan, and bone scintigraphy were discordant and the percutaneous biopsy non-contributive.

Conclusion

A marginal “en bloc” resection was performed and revealed the GCT. Based on a literature review, the diagnosis and the surgical management of this case are discussed.

     

Resting-state brain activity in Chinese boys with low functioning autism spectrum disorder

Background

This study aimed to explore the resting-state fMRI changes in Chinese boys with low functioning autism spectrum disorder (LFASD) and the correlation with clinical symptoms.

Methods

The current study acquired resting-state fMRI data from 15 Chinese boys with LFASD and 15 typically developing (TD) boys to examine the local brain activity using the regional homogeneity (ReHo) and amplitude of low-frequency fluctuation (ALFF) indexes; the researchers also examined these measures and their possible relationships with clinical symptoms using the autism behavior checklist.

Results

Results indicated that boys with LFASD exhibited increased ReHo in the right precuneus and inferior parietal gyrus (IPG), increased ALFF in right middle temporal gyrus, angular gyrus and IPG. However, no correlation was found between the ALFF/ReHo score and clinical symptoms in the LFASD group.

Conclusions

Some of the brain regions had ReHo/ALFF values that were higher in the boys with LFASD than the TD group and these differentiated brain areas in boys with LFASD were all on the right cerebrum, which supported ‘atypical rightward asymmetry’ in boys with LFASD.

     

Cardiac autonomic modulation and blood pressure responses to isometric handgrip and submaximal cycling exercise in individuals with down syndrome

Purpose

Individuals with Down syndrome (DS) exhibit autonomic dysfunction, manifested as attenuated heart rate (HR) and blood pressure (BP) responses to sympathoexcitation. Whether a subgroup of individuals with DS with a normal HR response would have normal autonomic responses to sympathoexcitation remains unclear.

Methods

We compared autonomic modulation using HR variability (HRV) and BP responses in individuals with and without DS (controls) matched for the HR change to isometric handgrip (HG) (10 DS, 8 controls) and submaximal cycling exercise (CE) (9 DS, 9 controls). HG was performed for 2 min at 30 % of maximal voluntary contraction. CE included two 6-min stages at 0 W and at 50 % of body weight. Beat-to-beat HR and BP were recorded. HRV variables were natural log transformation (Ln) of low frequency (LF), high frequency (HF), LF/HF ratio, total power (TP), and the root mean square of successive differences (RMSSD).

Results

In the HG study, although individuals with DS exhibited an overall lower systolic BP, LF/HF ratio, and LnLF/LnHF, their BP and HRV responses to HG were similar to those of the controls. In the CE study, individuals with DS exhibited lower resting LnLF and an overall lower systolic BP and mean arterial pressure compared with controls. During the CE, individuals with DS exhibited an increased diastolic BP and a smaller reduction in LnTP than controls. These differences disappeared after controlling for confounders.

Conclusions

Our results suggest that despite normal HR responses to sympathoexcitatory tasks, HRV was largely similar to controls, with some evidence of autonomic dysfunction in individuals with DS.

     

Changing Family Food and Eating Practices: The Family Food Decision-Making System

Background

Food decision-making processes interact with family and community environments to shape families’ thinking (i.e., their constructed reality) about food, eating, health, and well-being as discussed by Gillespie and Gillespie (J Fam Consum Sci 99(2):22–28 2007).

Purpose

To understand the processes and impetuses for changing family food and eating routines and policies and to develop a framework for the family food decision-making system (FFDS).

Methods

Interviews and observations with parents and change agents were used to generate grounded theory in the form of propositions which provided the basis for the FFDS framework.

Results

The propositions elucidate the processes of and influences on family food decision-making systems. The framework illustrates the family food decision-making system and processes of changing family food and eating routines and policies.

Conclusion

The FDMS framework begins to address the complexity of food decision-making to guide intervention planning and further research.

     

Quantitative assessment of finger tapping characteristics in mild cognitive impairment,Alzheimer’s disease,and Parkinson’s disease

Background

Fine motor impairments are common in neurodegenerative disorders, yet standardized, quantitative measurements of motor abilities are uncommonly used in neurological practice. Thus, understanding and comparing fine motor abilities across disorders have been limited.

Objectives

The current study compared differences in finger tapping, inter-tap interval, and variability in Alzheimer’s disease (AD), Parkinson’s disease (PD), mild cognitive impairment (MCI), and healthy older adults (HOA).

Methods

Finger tapping was measured using a highly sensitive light-diode finger tapper. Total number of finger taps, inter-tap interval, and intra-individual variability (IIV) of finger tapping was measured and compared in AD (n?=?131), PD (n?=?63), MCI (n?=?46), and HOA (n?=?62), controlling for age and sex.

Results

All patient groups had fine motor impairments relative to HOA. AD and MCI groups produced fewer taps with longer inter-tap interval and higher IIV compared to HOA. The PD group, however, produced more taps with shorter inter-tap interval and higher IIV compared to HOA.

Conclusions

Disease-specific changes in fine motor function occur in the most common neurodegenerative diseases. The findings suggest that alterations in finger tapping patterns are common in AD, MCI, and PD. In addition, the present results underscore the importance of motor dysfunction even in neurodegenerative disorders without primary motor symptoms.