Cognitive profile in childhood myotonic dystrophy type 1: Is there a global impairment?

The objective of this study was to assess the cognitive profile in the childhood-onset form of myotonic dystrophy (DM1). We carried out a general cognitive abilities study on 36 patients (6-18 years). Results of Full Scale IQ , VIQ (Verbal IQ) and PIQ (Performance IQ) measures are discussed in terms of global cognitive impairment depending on the (CTG)n repeat size and the transmitting parent's sex. The results highlighted a negative correlation between the CTG repeat size and cognitive function: (1) 55% of the subjects (20/34) presented large CTG expansion (mean=761) correlated with significant extensive cognitive deficits (mean Full Scale IQ=56) in both intelligence scales (verbal and non-verbal); most of them exhibited DM1 maternal transmission. (2) In the case of smaller expansion (mean=527), 38% of the subjects exhibited a subnormal intelligence (mean Full Scale IQ=86) but performed poorly on subtests evaluating attention/memory function and presented a severe deficit in visuospatial and/or visuo-constructive skills. Most of these children had paternal transmission but a few had an affected mother.     

Childhood-onset form of myotonic dystrophy type 1 and autism spectrum disorder: Is there comorbidity?

Myotonic dystrophy type 1 (DM1) is a multisystemic disorder with neuromuscular symptoms and brain dysfunctions. Depending on the phenotypic expression, the degree of cognitive impairment remains heterogeneous, ranging from moderate to severe intellectual disability in the congenital form, to executive, visuospatial and personality dysfunction in the adult-onset form. Studies exploring the cognitive or psychiatric impairments in the childhood form of DM1, characterized by an age of onset between one and ten years, uneventful pre and post natal history and normal development the first year of life, are scarce and show conflicting results in regard to a comorbid diagnosis of Autism Spectrum Disorder (ASD). The aim of the current review is to summarize diagnostic criteria and update the state of the debate regarding comorbidity. Evidence from 9 studies collected in PubMed database (representing a total of 175 cases) focusing on clinical, neuropsychological and neuroimaging domains in childhood DM1 is considered and similarities or differences between childhood DM1 and ASD are identified. Highlighting what is known about the neurocognitive features specific to the childhood-onset form of DM1 could help (1) propose early screening regarding socio-emotional and attentional/executive functions or (2) implement therapeutic programs based on reinforcement of executive skills or social cognition.     

Is there a relationship between executive functions and academic success in children with neurofibromatosis type 1?

The present study aimed to compare the executive function (EF) of children with neurofibromatosis type 1 (NF1) to those of typically developing children and to investigate whether those abilities could predict the child's academic success in terms of academic skills and enablers. Twenty-nine children with NF1 and 27 age-and-gender-matched controls (aged 8–16 years) were examined with two tests to measure EF in an ecologically valid manner: the Behavioural Assessment of the Dysexecutive Syndrome in Children (BADS-C) and the parent questionnaire for the Behavior Rating Inventory of Executive Function (BRIEF). In order to evaluate academic success we used the Academic Competence Evaluation Scales (ACES). The performance of the NF1 group was significantly lower on the Water and Key search subtest of the BADS-C and on four scales of the BRIEF: initiate; working memory; plan/organise and organisation of materials. Significant correlations and predictive models via regression analysis were generated for: BADS-C, BRIEF and ACES scores. Based on these findings, children with NF1 have executive dysfunction that partially accounts for their difficulties in academic achievements.     

Graves’ disease and celiac disease in a patient with myotonic dystrophy type 2

We report a patient with progressive proximal muscle weakness in her legs, early-onset cataract and perceptive hearing loss, who was recently diagnosed with myotonic dystrophy type 2 (DM2). She also had two autoimmune disorders in her history, namely Graves’ disease and celiac disease. Previous studies have shown a high frequency of autoimmune diseases (21%) in patients with DM2. This is the first report of a patient with DM2 and two autoimmune diseases which both have not yet been described in DM2. The cause of this association might be explained at DNA, mRNA and protein levels, including genetic mutation in flanking genes and the toxic effect of the DM2 mutation on proteins involved in inflammation. This case report widens the spectrum of autoimmune diseases in DM2 and has implications both for clinical practice and for research.     

Does modafinil enhance activity of patients with myotonic dystrophy?

We performed a double-blind placebo-controlled crossover study in 13 patients with myotonic dystrophy to address the question whether modafinil, known to improve hypersomnolence in myotonic dystrophy, may improve levels of activity as well. We used the Epworth Sleepiness Scale as a measure of hypersomnolence and a structured interview of the patient and the partner or housemate as a measure of activity. We additionally used a restricted form of the RAND-36 to relate a possible improvement of activity to perceived general health. We confirmed earlier positive findings of modafinil regarding reduced somnolence (p = 0.015), but no significant effects were seen regarding activity levels (p = 0.2 for patients’ self-reports and 0.5 for partners’ reports). Received in revised form: 20 October 2005     

Is there delayed gastric emptying in patients with multiple system atrophy? An analysis using the 13C-acetate breath test

Autonomic failure is one of the criteria according to the second consensus statement for the diagnosis of multiple system atrophy (MSA). Gastrointestinal symptoms are frequent complaints in patients with MSA and may be associated with reduced gastrointestinal motility due to autonomic nervous system dysfunction. However, there are few reports on gastric emptying in patients with MSA. We investigated gastric emptying in 25 patients with MSA, 20 patients with sporadic adult-onset ataxia of unknown etiology (SAOA), and 20 healthy volunteers using the (13)C-acetate breath test. Gastric emptying function is estimated by this test as the half-emptying time (HET) and peak time of the (13)C-%-dose-excess curve (T (max)), with expirations collected for 4 h after a test meal and determination of (13)CO(2) content using an infrared (IR) spectrophotometer. The HET and T (max) of gastric emptying were significantly delayed in patients with MSA as compared to those in SAOA and controls (p < 0.01). The HET and T (max) were not significantly different between SAOA and controls. No correlation existed between the HET or T (max) and the duration or severity of the disease in MSA patients. These results suggested that gastric emptying was significantly delayed in patients with MSA, and the delay already appeared in the early stage of the disease. Delayed gastric emptying is one of the autonomic failures and may be a clinical marker of MSA.     

Is there a measurement overlap between depressive symptoms and quality of life?

Background

Previous studies found that depression is associated with a broad impairment in quality of life (QOL). This finding might be associated to a measurement overlap.

Methods

The objective of this study was to verify whether the items of the World Health Organization Quality of Life Instrument-Abbreviated version (WHOQOL-BREF), a measure of generic QOL, are invariant among patients having a current major depressive episode who come from primary care services. We investigated data from primary care services from the 6 countries (Australia, Brazil, Israel, Russia, Spain, and the United States) involved in the baseline sample of the Longitudinal Investigation of Depression Outcomes. The Rasch model was used to analyze items exhibiting differential item functioning (DIF) as a way of assessing invariance in relation to a depression factor defined by the diagnosis of depression using the Composite International Diagnostic Interview. In addition, the Center for Epidemiological Studies-Depression Scale (CES-D) score was correlated with the item and domain scores of the WHOQOL-BREF using the Pearson coefficient.

Results

The sample consisted of 2359 subjects, of which 1193 had a confirmed diagnosis of a current major depressive episode. Of the 26 items of the WHOQOL-BREF, 11 showed DIF due to the depression factor, and the physical domain presented more items displaying DIF. All Pearson coefficients between the WHOQOL-BREF item and domain scores and the CES-D score were weak and moderate (r = −0.13 to r = 0.43).

Conclusions

Our findings indicate that most WHOQOL-BREF items do not exhibit DIF for a current major depressive episode and the variance associated with depression in this generic QOL measure is restricted to some facets of this construct. Thus, we recommend this restricted adjustment for depression in future analyses of this measure. Furthermore, our study indicates that researchers must measure QOL regardless of depression severity.     

Is there a link between traumatic experiences and self-injurious behaviors in eating-disordered patients?

To find out more about the relationship between the presence of self-injurious behavior (SIB) and a history of traumatic experiences, we studied this link in 70 patients with an eating disorder (ED). The sample showed a high frequency of SIB (38.6%), particularly in patients with bulimia nervosa. We also found high percentages of self-reported experiences of physical (32.3%) and sexual abuse (47.7%). The presence of SIB turned out to be associated with a history of physical and/or sexual abuse. Patients who had suffered interpersonal abuse before the age of 15 were more likely to develop self-destructive behaviors. In line with other investigations, we found that high levels of dissociation and self-criticism differentiated sexually abused ED patients with SIB from those without SIB. We discuss some clinical implications of our findings, with suggestions for treatment.     

Retrospective study on PET–SPECT imaging in a large cohort of myotonic dystrophy type 1 patients

The aim was to study brain involvement in myotonic dystrophy type 1 by single photon emission tomography (SPECT) and positron emission tomography (PET). 58 DM1 patients were subjected to SPECT; 17 to both SPECT and PET. SPECT patients were grouped as ‘normally perfused’ and ‘abnormally perfused’; PET patients as ‘normal performers’ and ‘abnormal performers’. To quantify hypoperfusion and/or hypometabolism, we used a semi-quantitative scale. To localize focal hypoperfusion/hypometabolism, nine cerebral areas of involvement were identified. The Chi-square, Wilcoxon, McNemar tests were used for statistics. SPECT showed abnormalities in 52/58 patients. PET showed an abnormal glucidic uptake in 15/17. Hypoperfusion was mild/moderate in 50/58 patients, mostly involving the left supratentorial areas. Abnormal glucidic uptake was mainly observed in the left frontal lobe. Abnormalities in blood perfusion and/or glucose metabolism are frequent in DM1. These abnormalities involve the left more often than the right hemisphere, the frontal lobe more than other lobes. Such abnormalities are more often cortical than subcortical.     

Do classical and computerized cognitive tests have equal intrarater reliability in myotonic dystrophy type 1?

Myotonic dystrophy type 1 (DM1) is a multisystemic inherited neuromuscular disease leading to central nervous system symptoms, including cognitive impairments, among multiple other symptoms. However, information is presently lacking regarding the psychometric properties of neuropsychological tests and promising computerized cognitive tests, such as the Cambridge Neuropsychological Test Automated Battery (CANTAB^Ⓡ). This type of information is critical to improve clinical trial readiness and provide knowledge of DM1 natural history. The aims of the present study were (1) to document the intrarater reliability of classic paper-pencil tests assessing visuospatial working memory, cognitive flexibility, attention, episodic memory and apathy, and (2) to compare these findings with their equivalent computerized automated tests from the CANTAB^Ⓡ. Thirty participants were seen twice at four-week intervals. Results showed that the Stroop Color and Word Test (ICC = 0.741–0.869) and the Ruff 2 & 7 (ICC = 0.703–0.871) appear to be reliable paper-and-pencil tests in the DM1 population. For the CANTAB^Ⓡ, a similar observation was made for the Multitasking test (ICC = 0.588–0.792). Further studies should explore the applicability and concurrent validity of the CANTAB® and classic neuropsychological assessments in additional cohorts of DM1 patients.     

Urodynamics post stroke in patients with urinary incontinence: Is there correlation between bladder type and site of lesion?

Objective:

Assessment of bladder by urodynamic study (UDS) in patients with urinary incontinence following stroke, and correlation with site of lesion.

Study Design and Setting:

Retrospective cross-sectional study in the neurological rehabilitation unit of a tertiary care institute.

Materials and Methods:

Forty patients (22 males) with arterial or venous, ischemic or hemorrhagic stroke, with urinary incontinence in the acute phase following the event, underwent UDS. Seventeen patients had right hemiplegia, 18 had left hemiplegia, and five had posterior circulation stroke with brainstem/cerebellar features. Bladder type was correlated with age, side, and site of lesion.

Results:

The mean age was 46.80 ± 16.65 years (range: 18-80 years). Thirty-six patients had arterial stroke and four had cortical venous thrombosis. UDS was performed after a mean of 28.32 ± 10.27 days (range: 8-53 days) after the stroke. All but one patient had neurogenic bladder dysfunction, with 36 patients (90%) having overactive detrusor (OD) and three having underactive/areflexic detrusor. Among the 36 patients with OD, 25 patients (62.5%) had OD without detrusor-sphincter dyssynergy (DSD) and 11 (27.5%) had OD with DSD. Bladder management was advised based on the UDS findings. No significant correlation (P > 0.05) was found between type of bladder and age or side and site of lesion.

Conclusions:

UDS is a useful tool to assess and manage the bladder following stroke with urinary incontinence. In this study, no significant correlation was found between UDS findings and site of lesion.     

Is there a delayed gastric emptying of patients with early-stage, untreated Parkinson's disease? An analysis using the 13C-acetate breath test

During the pre-symptomatic stage of Parkinson's disease (PD), the idiopathic PD related abnormal synuclein immunostaining is confined to the medulla oblongata and olfactory bulb, according to Braak. In the study of the enteric nervous system of PD, it has reported that Lewy bodies were found in the Auerbach's and Meissner's plexuses. These lesions may cause dysfunction of the gastrointestinal tract (GI) as pre-clinical symptoms of PD. However, because L: -dopa therapy itself may worsen the symptoms of the digestive tract function, it is needed to evaluate the gastrointestinal tract function in patients with early-stage, untreated (de novo) PD. In the present study, using the (13)C-acetate breath test ((13)C-ABT), we investigated gastric emptying in 20 untreated, early-stage PD patients and 40 treated, advanced-stage PD patients, and 20 healthy volunteers. Gastric emptying was examined by the (13)C-ABT [the half emptying time (HET), the peak time of the (13)C% dose-excess curve (T (max))]. The T (max) and HET of gastric emptying as assessed using the (13)C-ABT was significantly delayed in untreated, early-stage PD patients as compared to the controls (P < 0.001). The T (max) and HET of gastric emptying were not significantly delayed in untreated, early-stage PD patients as compared to treated, advanced-stage PD patients. The results demonstrated that delay in gastric emptying did not differ between untreated, early-stage and treated, advanced-stage PD patients. Gastric emptying of untreated, early-stage PD is already delayed. Delayed gastric emptying may be one of markers of the pre-clinical stage of PD.     

Is there a gender difference on the association between informal work and common mental disorders?

Economic activity in Brazilian women has been increasing in recent years, particularly in the form of under- and self-employment, which allows more flexibility in the work schedule and facilitates part-time work, a crucial issue for women reconciling family duties and the need for a remunerated occupation. This paper investigates the gender difference in the association between employment status and common mental disorders (CMD). A cross-sectional survey of a random sample of private households included 683 adults aged 15 years and over living in Olinda, Brazil. The self-reporting questionnaire (SRQ-20) was used to estimate the prevalence of CMD. The association between unemployment and CMD for men (OR=1.77, 95% CI 0.8–3.9) was in the same direction as that found for women (OR=2.66, 95% CI 1.1–6.3), but not significant. In contrast to this, while women working in the informal sector were more likely to be a case of CMD than formal workers (OR=3.02, 95% CI 1.3–7.2), no difference was found for informally working men (OR=1.08, 95% CI 0.5–2.4). The estimated OR for female informal workers was out of the 95% confidence intervals of the corresponding OR estimated for males, and the test for interaction was statistically significant (p=0.04). From a policy perspective, the value of encouraging people to take informal work depends both on how quickly individuals can be moved out of unemployment into informal work compared to other destinations, and how well individuals fare once in informal work. The results of the present study suggest that working outside the protection of employment legislation and with limited opportunity for skill use may be a risk for women’s mental health.