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951.
《Research in developmental disabilities》2014,35(11):2802-2811
ObjectiveDespite increasing research on indiscriminate friendliness in children, almost no research exists on social-cognitive deficits that are supposed to underlie indiscriminately friendly behavior. In this study, we compared indiscriminately friendly children with controls regarding their perceptions of self, reliability trust in significant others, and perceptions of the teacher–child relationship.MethodChildren's perceptions were compared in two samples: a sample of 33 likely cases for disinhibited reactive attachment disorder (RAD) from special education for children with emotional and behavioral disorders (75.76% boys, Mage = 8.52, 96.9% Caucasian, 33.3% and 45.5% of their mothers completed primary or secondary education, respectively) was matched on sex, age, and socio-economic status with a sample of 33 controls from general education. Children participated individually in several interviews assessing global and social self-concept, reliability trust in significant others, teacher–child relationship perceptions, and vocabulary. Parents and teachers completed a screening questionnaire for RAD and the Strengths and Difficulties Questionnaire.ResultsLikely disinhibited RAD-cases showed more indiscriminate friendliness and more problem behavior in general according to their parents and teachers than controls. Furthermore, likely RAD-cases reported a more positive global self-concept, more reliability trust in significant others, and more dependency in the teacher–child relationship than controls.ConclusionsThe results are in line with clinical observations of indiscriminately friendly children and findings in clinical samples of maltreated or attachment disrupted children but contrast hypotheses from developmental attachment research. Further research is needed to explain the more positive perceptions of indiscriminately friendly children. 相似文献
952.
《Research in developmental disabilities》2014,35(7):1501-1506
The aim of this study was to quantitatively evaluate the change in gait and body weight in the long term in patients with Prader–Willi Syndrome (PWS). Eight adults with PWS were evaluated at baseline and after 7 years. During this period patient participated an in- and out-patient rehabilitation programs including nutritional and adapted physical activity interventions. Two different control groups were included: the first group included 14 non-genetically obese patients (OCG: obese control group) and the second group included 10 age-matched healthy individuals (HCG: healthy control group). All groups were quantitatively assessed during walking with 3D-GA. The results at the 7-year follow-up revealed significant weight loss in the PWS group and spatial–temporal changes in gait parameters (velocity, step length and cadence). With regard to the hip joint, there were significant changes in terms of hip position, which is less flexed. Knee flexion–extension showed a reduction of flexion in swing phase and of its excursion. No changes of the ankle position were evident. As for ankle kinetics, we observed in the second session higher values for the peak of ankle power in terminal stance in comparison to the first session. No changes were found in terms of ankle kinetics. The findings demonstrated improvements associated to long-term weight loss, especially in terms of spatial–temporal parameters and at hip level. Our results back the call for early weight loss interventions during childhood, which would allow the development of motor patterns under normal body weight conditions. 相似文献
953.
《Research in developmental disabilities》2014,35(9):2035-2043
Children with Developmental Coordination Disorder (DCD) often experience difficulties in handwriting. The current study examined the relationships between three motor assessments and the spatial and temporal consistency of handwriting. Twelve children with probable DCD and 29 children from 7 to 12 years who were typically developing wrote the lowercase letters “e” and “l” in cursive and printed forms repetitively on a digitizing tablet. Three behavioral assessments, including the Beery–Buktenica Developmental Test of Visual-Motor Integration (VMI), the Minnesota Handwriting Assessment (MHA) and the Movement Assessment Battery for Children (MABC), were administered. Children with probable DCD had low scores on the VMI, MABC and MHA and showed high temporal, not spatial, variability in the letter-writing task. Their MABC scores related to temporal consistency in all handwriting conditions, and the Legibility scores in their MHA correlated with temporal consistency in cursive “e” and printed “l”. It appears that children with probable DCD have prominent difficulties on the temporal aspect of handwriting. While the MHA is a good product-oriented assessment for measuring handwriting deficits, the MABC shows promise as a good assessment for capturing the temporal process of handwriting in children with DCD. 相似文献
954.
955.
《Psychiatry Research: Neuroimaging》2014,221(2):142-148
Although hoarding disorder (HD) has been historically conceptualized as a subtype or dimension of obsessive–compulsive disorder (OCD), preliminary evidence suggests that these two disorders have distinct neural underpinnings. The aim of the present study was to compare the hemodynamic responses of HD patients, OCD patients, and healthy controls (HC) during response inhibition on a high-conflict Go/NoGo task that has previously proved sensitive to OCD. Participants comprised 24 HD patients, 24 OCD patients, and 24 HCs who completed a Go/NoGo task during functional magnetic resonance imaging (fMRI). Although behavioral data showed no difference among the groups in Go/NoGo task performance, significant differences in hemodynamic activity were noted. During correct rejects (successful response inhibition), HD patients showed greater right precentral gyrus activation, whereas OCD patients exhibited greater right orbitofrontal activation, as assessed using a region of interest approach. During errors of commission (response inhibition failures), OCD patients, but not HD patients, were characterized by excessive activity in left and right orbitofrontal gyrus. The present results lend further support to the biological distinction between HD and OCD, and they are consistent with previous research suggesting frontal hypoactivity in HD patients during hoarding-unrelated tasks. 相似文献
956.
《Neuromuscular disorders : NMD》2014,24(2):117-124
Cap myopathy is a rare congenital myopathy characterized by the presence of caps within muscle fibres and caused by mutations in ACTA1, TPM2 or TPM3. Thus far, only three cases with TPM3-related cap myopathy have been described. Here, we report on the first autosomal dominant family with cap myopathy in three-generations, caused by a novel heterozygous mutation in the alpha-tropomyosin-slow-encoding gene (TPM3; exon 4; c.445C>A; p.Leu149Ile). The three patients experienced first symptoms of muscle weakness in childhood and followed a slowly progressive course. They presented generalized hypotrophy and mild muscle weakness, elongated face, high arched palate, micrognathia, scoliosis and respiratory involvement. Intrafamilial variability of skeletal deformities, respiratory involvement and mild cardiac abnormalities was noted. Muscle MRI revealed a recognizable pattern of fatty muscle infiltration and masseter muscle hypertrophy. Subsarcolemmal caps were present in 6–10% of the fibres and immunoreactive with anti-tropomyosin antibodies. We conclude that the MRI-pattern of muscle involvement and the presence of masseter muscle hypertrophy in cap myopathy may guide molecular genetic diagnosis towards a mutation in TPM3. Regular respiratory examinations are important, even if patients have no anamnestic clues. We compare our findings to all cases of cap myopathy with identified mutations (n = 11), thus far reported in the literature. 相似文献
957.
《Seizure》2014,23(1):36-40
PurposeVerapamil, a voltage-gated calcium channel blocker, has been occasionally reported to have some effect on reducing seizure frequency in drug-resistant epilepsy or status epilepticus. We aimed to investigate the efficacy of verapamil as add-on treatment in children with drug-resistant epilepsy.MethodsSeven children with drug-resistant structural-metabolic, unknown or genetic (e.g., Dravet syndrome [DS]) epilepsy received verapamil as an add-on drug to baseline antiepileptic therapy. Verapamil was slowly introduced at the dosage of 1 mg/kg/day and titrated up to 1.5 mg/kg/day. After completing the titration period, patients entered a 14-month maintenance period and were followed up at 3, 8, and 14 months. Heart monitoring was performed at baseline and at each follow-up. The primary outcome measure was the response of seizures to verapamil.ResultsThree subjects with genetically determined DS showed a partial (reduction of 50–99%) response for all types of seizures. A patient with DS without known mutation showed a partial control of all types of seizures in the first 13 months; then seizures worsened and verapamil was suspended. Two patients with structural epilepsy and one with Lennox–Gastaut syndrome showed no improvement. Any side effects were recorded.ConclusionsAdd-on treatment with verapamil seems to have some effect in controlling seizures in patients with genetically determined DS. Our observations justify further research on the relationship between calcium channels, calcium channel blockers, and channelopathies. 相似文献
958.
959.
Beatrice Benatti Chiara Arici Eric Hollander A. Carlo Altamura 《International journal of psychiatry in clinical practice》2014,18(3):156-160
Objective. Impulsivity represents a key dimension in obsessive–compulsive disorder (OCD), in relation to outcome and course. It can be assessed through the Barratt Impulsiveness Scale (BIS), which explores three main areas: attentional, motor, and nonplanning. Present study was aimed to assess level of impulsivity in a sample of OCD patients, in comparison with healthy controls, using the BIS. Methods. Seventy-five OCD outpatients, 48 of them having psychiatric comorbidities and 70 healthy controls, were assessed through the BIS, and their scores were analyzed using Student's t-test for independent samples, on the basis of demographic and clinical characteristics. Results. BIS total scores were significantly higher (P: 0.01) in patients compared to controls, with no difference between pure and comorbid patients. Attentional impulsivity scores were significantly higher than controls in patients with pure (P < 0.001) and comorbid OCD (P < 0.001), without differences among them. Patients with multiple OC phenotypes showed higher, though statistically non significant, total and attentional scores, compared to single phenotype patients. In addition, patients with comorbid major depressive disorder had higher, though statistically non significant, total and attentional scores, compared to patients with comorbid bipolar disorder, generalized anxiety disorder, and other disorders. Conclusions. Present findings showed higher impulsivity levels in OCD patients versus controls, particularly in the attentional area, and ultimately suggest a potential cognitive implication. 相似文献
960.
《Sleep medicine》2014,15(3):355-358
ObjectiveMachado–Joseph disease (MJD) is a neurodegenerative disease which usually presents several clinical findings including cerebellar ataxia and other extracerebellar features, such as Parkinsonism, dystonia, peripheral neuropathy, and lower motor neuron disease. Some data have demonstrated a high frequency of sleep disorders in these patients, including excessive daytime sleepiness (EDS), insomnia, obstructive sleep apnea (OSA), rapid eye movement (REM) sleep behavior disorder (RBD), and restless legs syndrome (RLS). Herein, we aimed to describe the high frequency of excessive fragmentary myoclonus (EFM) in MJD.Materials and methodsWe recruited 44 patients with MJD and 44 healthy controls. All participants underwent an all-night polysomnography (PSG). EFM was evaluated and defined in accordance to the criteria of the American Academy of Sleep Medicine.ResultsHalf of the MJD patients (n = 22) had EFM diagnosed through PSG, though no healthy control participant presented this finding (P < .0001). In the MJD group, older participants and men had a higher frequency of EFM. There was no correlation between EFM and the following data: body mass index (BMI), apnea–hypopnea index (AHI), EDS, loss of atonia during REM sleep, periodic limb movements during sleep (PLMS), RLS, RBD, ataxia severity, the number of cytosine–adenine–guanine trinucleotide (CAG) repeats, disease duration, sleep efficiency, sleep fragmentation, and sleep stage percentages between patients with or without EFM.ConclusionEFM is highly prevalent in patients with MJD. Our study demonstrates that EFM must be included in the clinical spectrum of sleep disorders in MJD patients. 相似文献