Tuberous Sclerosis Complex in Autism.

Tuberous sclerosis complex in autism.

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Iran J Pediatr. 2012 Sep; 22(3): 408-11
Guo X, Tu WJ, Shi XD

To study the prevalence rate of tuberous sclerosis complex in autistic disorder.We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period (2005-2009), we collected a database of 429 children (390 boys and 39 girls; male to female ratio 10:1) with autistic disorder and pervasive developmental disorders. We routinely examined all children with autistic disorder for any features of tuberous sclerosis complex by looking for neurocutaneous markers such as depigmented spots. In those with infantile spasm or epilepsy, the clinical features of tuberous sclerosis complex were monitored regularly during follow-up.Of these, five had tuberous sclerosis complex. Thus, the prevalence rate of tuberous sclerosis complex in autistic disorder is 1.17%. All of these children were mentally retarded with moderate to severe grades. Their IQ or developmental quotient was less than 70.The prevalence rate of tuberous sclerosis complex in autistic disorder was 1.17% in our region; autism spectrum disorder is a condition that might be associated with development of tuberous sclerosis complex.
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Developing Research on Performance-Based Functional Work Assessment: Report on the First International Functional Capacity Evaluation Research Meeting.

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J Occup Rehabil. 2013 Feb 12;
Reneman MF, Soer R, Gross DP

Introduction Research on Performance-Based Work Assessment, also known as Functional Capacity Evaluation (FCE), has evolved substantially over the past decades. Although this field of research has developed, the use of FCE has been an object of discussion and debate internationally. Unfortunately, there has been no platform or infrastructure available for FCE researchers to present their research, discuss, and collaborate. Methods An International FCE Research Meeting was held in Haren, The Netherlands on October 25, 2012, with 48 participants from eight countries. The meeting consisted of presentation of new research, two debates, and an open discussion that aimed at creating an overview of gaps in research as identified by the participants. Results The discussion resulted in the identification of 17 research needs, which are listed in this paper. Important categories were: further validation of FCE across settings, jurisdictions and patient groups; additional impact and cost-effectiveness evaluation of FCE compared to alternatives; and the use of ICF as guiding framework. Conclusion Researchers, clinicians, and other professionals in the FCE area are interested in improving the quality and content of FCE research by setting a common set of priorities and creating an international peer network.
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Clinical Reasoning:A 28-year-old IV drug user with bilateral basal ganglia and brainstem lesions.

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Neurology. 2013 Feb 12; 80(7): e73-6
Lin TP, Thompson R, Coull B

A 28-year-old man presented with progressive lethargy and confusion over 2 days. He has a longstanding history of IV heroin use. His last use was 2 weeks ago, and he completed inpatient detoxification 2 days before admission. After he returned home from rehabilitation, his roommate noticed that he became increasingly confused. On the day of admission, he was febrile, unable to get out of bed, or speak, although he was able to nod yes and no to simple questions. He also lost urinary control.
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Cancer patients’ experiences with and perceived outcomes of yoga: results from focus groups.

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Support Care Cancer. 2013 Feb 12;
van Uden-Kraan CF, Chinapaw MJ, Drossaert CH, Verdonck-de Leeuw IM, Buffart LM

PURPOSE: Yoga is a “mind-body” exercise, a combination of physical poses with breathing and meditation, and may have beneficial effects on physical and psychosocial symptoms. We aimed to explore cancer patients’ motives for practicing yoga, experiences of practicing yoga, and perceived physical and psychosocial outcomes. METHODS: Participants (n?=?45) following yoga classes for cancer patients were asked to participate in focus group interviews, of whom 29 participated. The focus groups (n?=?5) were audio taped with prior consent and transcribed verbatim. Data were analyzed by two coders and independently coded into key issues and themes. RESULTS: Mean age of the participants was 53.8 (SD 10.8)?years, of whom 25 were women, and 18 were diagnosed with breast cancer. Motives for participation in yoga were relaxation, the will to be physically active, the wish to pay more attention to one’s body, coping with psychosocial symptoms, contributing to their cancer rehabilitation process, and combing physical and mental processes. Main physical and psychosocial experiences of yoga mentioned by patients were regaining body awareness, raising attention to the inner self, learning how to relax, enjoyment, and finding recognition and understanding. Increased physical fitness and function, mental strength and resilience, increased coping, being more relaxed, and happiness were frequently mentioned experiences of patients. CONCLUSIONS: Patients with different types of cancer perceived several benefits on physical and psychosocial outcomes by practicing yoga. Therefore, yoga can be a valuable form of supportive care for cancer patients.
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