1. Balogh R, Wood J, Dobranowski K, Lin E, Wilton A, Jaglal SB, Gemmill M, Lunsky Y. {{Low-trauma fractures and bone mineral density testing in adults with and without intellectual and developmental disabilities: a population study}}. {Osteoporos Int};2016 (Sep 9)
Individuals with intellectual and developmental disabilities (IDD) are at risk for low-trauma fractures. We investigated the rate of low-trauma fractures and the odds of BMD testing in adults with/without IDD. Adults with IDD were more likely to have a low-trauma fracture, but there was no difference in bone mineral density (BMD) testing rates. INTRODUCTION: Individuals with IDD are at increased risk for developing osteoporosis which contributes to high rates of low-trauma fracture. Low-trauma fractures can lead to significant pain and further decrease mobility. It is therefore important to effectively manage osteoporosis, for example, by monitoring BMD in persons with IDD. The objective of this study was to examine the rates of low-trauma fracture and BMD testing among a population-based cohort of people with IDD and compare them to those without IDD. METHODS: Using administrative data, we created a cohort of adults with IDD between the ages of 40 and 64. They were compared to a random 20 % sample of those without IDD. The number of low-trauma fractures and BMD tests in each group were determined for Ontario residents between April 1, 2009 and March 31, 2010. RESULTS: Adults with IDD were approximately three times more likely to experience a low-trauma fracture than adults without IDD. The largest disparity in prevalence of low-trauma fractures between those with and without IDD was for men, older adults (60-64 years old) and those living in rural or lower-income neighbourhoods. Post low-trauma fracture, there was no significant difference in the likelihood of receiving a BMD test between individuals with and without IDD. CONCLUSIONS: The findings of this study have a number of important implications related to early detection, prevention and proper management of osteoporosis and low-trauma fractures among persons with IDD.
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2. Deschrijver E, Wiersema JR, Brass M. {{Action-based touch observation in adults with high functioning autism: Can compromised self-other distinction abilities link social and sensory everyday problems?}}. {Soc Cogn Affect Neurosci};2016 (Sep 9)
Next to social problems, individuals with autism spectrum disorder (ASD) often report severe sensory difficulties. Altered processing of touch is however a stronger mediator of social symptoms’ severity than altered processing of for instance vision or audition. Why is this the case? We reasoned that sensory difficulties may be linked to social problems in ASD through insufficient self-other distinction centred on touch. We investigated by means of EEG whether the brain of adults with ASD adequately signals when a tactile consequence of an observed action does not match own touch, as compared to the brain of matched controls. We employed the action-based somatosensory congruency paradigm (Deschrijver et al., 2015): Participants observed a human or wooden hand touching a surface, combined with a tap-like tactile sensation that either matched or mismatched the tactile consequence of the observed movement. The ASD group showed a diminished congruency effect for human hands only in the P3-complex, suggesting difficulties with signalling observed action-based touch of others that does not match own touch experiences. Crucially, this effect reliably correlated with self- reported social and sensory everyday difficulties in ASD. The findings might denote a novel theoretical link between sensory and social impairments in the autism spectrum.
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3. Haessler F, Gaese F, Huss M, Kretschmar C, Brinkman M, Peters H, Elstner S, Colla M, Pittrow D. {{Characterization, treatment patterns, and patient-related outcomes of patients with Fragile X syndrome in Germany: final results of the observational EXPLAIN-FXS study}}. {BMC Psychiatry};2016;16(1):318.
BACKGROUND: As data on the phenotype, characteristics and management of patients with Fragile X Syndrome (FXS) are limited, we aimed to collect such data in Germany in experienced centres involved in the treatment of such patients. METHODS: EXPLAIN-FXS is a prospective observational (non-interventional) study (registry) performed between April 2013 and January 2016 at 18 sites in Germany. Requirements for patient participation included confirmed diagnosis of FXS by genetic testing (>200 CGG repeats) and written informed consent. Patients were followed for up to 2 years. RESULTS: Seventy-five patients (84.0 % males, mean age 16.7 +/- 14.5 years, ranging from 2 – 82 years) were analysed. The mean 6-item score, determined according to Giangreco (J Pediatr 129:611-614, 1996), was 6.9 +/- 2.5 points. At least one neurological finding each was noted in 53 patients (69.7 %). Specifically, ataxia was noted in 5 patients (6.6 %), lack of fine motor skills in 40 patients, (52.6 %), muscle tonus disorder in 4 patients (5.3 %), and other neurological disorders in 39 patients (51.3 %). Spasticity was not noted in any patient. Seizures were reported in 6 patients (8.1 %), anxiety disorders in 22 patients (30.1 %), depression in 7 patients (9.6 %), ADHD/ADD in 36 patients (49.3 %), impairment of social behavior in 39 patients (53.4 %), and other comorbidities in 23 patients (31.5 %). The mean Aberrant Behaviour Checklist Community Edition (ABC-C) score on behavioral symptoms, obtained in 71 patients at first documentation, was 48.4 +/- 27.8 (median 45.0, range 5-115). The mean visual analogue scale (VAS) score, obtained in 59 patients at first documentation, was 84.9 +/- 14.6 points (median 90; range 50 – 100). CONCLUSIONS: This report describes the largest cohort of patients with FXS in Europe. The reported observations indicate a substantial burden of disease for patients and their caregivers. Based on these observations, an early expert psychiatric diagnosis is recommended for suspected FXS patients. Further recommendations include multimodal and multi-professional management that is tailored to the individual patient’s needs. TRIAL REGISTRATION: The ClinTrials.gov identifier is NCT01711606 . Registered on 18 October 2012.
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4. Hendriksen JG, Klinkenberg S, Collin P, Wong B, Niks E, Vles JS. {{Diagnosis and treatment of obsessive compulsive behavior in a boy with Duchenne muscular dystrophy and autism spectrum disorder: A case report}}. {Neuromuscul Disord};2016 (Aug 9)
We describe a case study of comorbid obsessive-compulsive disorder (OCD) in a nine-year-old boy with Duchenne muscular dystrophy (DMD). Patient history included persistent deficits in social communication and restrictive and repetitive patterns of behavior: a diagnosis of autism spectrum was formalized. Due to serious disruption on social functioning and negative development of the obsessive behavior we decided to start pharmacotherapy. Fluoxetine 5 mg/day was started and gradually increased to 20 mg/day. A significant positive effect was observed by both parents and teacher in daily functioning. Although parents reported a positive change in mood, formal behavior rating by them did not reveal a significant effect, reflecting the insensitivity of general behavior rating scales. However, neuropsychological testing revealed a significant effect. This case report highlights the diagnostic and therapeutic challenges of complex neuropsychiatric comorbidities in DMD. It is the first scientific report on fluoxetine effectiveness in this patient group. Further research is needed.
