Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fragile X Mental Retardation 1 (FMR1) premutation carriers (PM-carriers) have a defective trinucleotide expansion on the FMR1 gene that is associated with continuum of neuropsychological and mental disorders. Currently, little is known about the distinct subcomponents of executive function potentially impaired in female PM-carriers, and there have been no investigations into associations between executive function and incidences of mental disorders. A total of 35 female PM-carriers confirmed by Asuragen triple primed PCR DNA testing and 35 age- and intelligence-matched controls completed tests of executive function (i.e., response inhibition and working memory) and self-reported on social anxiety, depression, and ADHD predominantly inattentive (ADHD-PI) symptoms. Compared to controls, PM-carriers were significantly elevated on self-reported social anxiety and ADHD-PI symptoms. Irrespective of mental symptoms, female PM-carries performed significantly worse than controls on a response inhibition test, and further investigations revealed significant correlations between executive function performance and self-reported symptoms of anxiety, depression and ADHD-PI. Critically, among PM-carriers with good executive function performance, no women exceeded threshold markers for probable caseness of mental disorder. However, rates of probable caseness were elevated in those with average performance (response inhibition: social anxiety: 41.7%; depression: 20%; ADHD: 44.4%; working memory: social anxiety: 27.3%; depression: 9.1%; ADHD: 18.2%) and highly elevated for those with poor executive function performance (response inhibition: social anxiety: 58.3%; depression: 80%; ADHD: 55.6%; working memory: social anxiety: 100%; depression: 50%; ADHD: 83.3%). These data suggest that subtle executive dysfunction may be a useful neuropsychological indicator for a range of mental disorders previously reported in female PM-carriers.
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PMID:Impaired response inhibition is associated with self-reported symptoms of depression, anxiety, and ADHD in female FMR1 premutation carriers. 2416 28

The purpose of this study was to analyze characteristics of individuals working in the profession of neuropsychology in Latin America in order to understand their background, professional training, current work situation, assessment and diagnostic procedures used, rehabilitation techniques employed, population targeted, teaching responsibilities, and research activities. A total of 808 professionals working in neuropsychology from 17 countries in Latin America completed an online survey between July 2013 and January 2014. The majority of participants were female and the mean age was 36.76 years (range 21-74 years). The majority of professionals working in neuropsychology in Latin America have a background in psychology, with some additional specialized training and supervised clinical practice. Over half work in private practice, universities, or private clinics and are quite satisfied with their work. Those who identify themselves as clinicians primarily work with individuals with learning problems, ADHD, mental retardation, TBI, dementia, and stroke. The majority respondents cite the top barrier in the use of neuropsychological instruments to be the lack of normative data for their countries. The top perceived barriers to the field include: lack of academic training programs, lack of clinical training opportunities, lack of willingness to collaborate between professionals, and lack of access to neuropsychological instruments. There is a need in Latin America to increase regulation, improve graduate curriculums, enhance existing clinical training, develop professional certification programs, validate existing neuropsychological tests, and create new, culturally-relevant instruments.
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PMID:Profession of neuropsychology in Latin America. 2728 50

There is limited availability of mental health services in Nigeria, and indeed most of Africa. Available services are also often under-utilized because of widespread ignorance and supernatural beliefs about the etiology of mental illnesses. The consequence, therefore, is a long and tedious pathway to care for the mentally ill, especially children and adolescents. This was a study of all new patients, aged 18 years and below, presenting over a 6 month period in 2009 (January - June) at the outpatient clinic of a tertiary psychiatric facility in northern Nigeria. A socio-demographic questionnaire was utilized, along with a record of the clinician's assessment of diagnosis for 242 patients. Subjects who had been withdrawn from school, or any previously engaged-in activity for longer than 4 weeks on account of the illness, were recorded as having disability from the illness. The children were aged 1-18 years (mean=12.3; SD=5.2) with males accounting for 51.7% (125) while 14.5% of the females (n=117) were married. Two thirds (64.5%) of the patients had been ill for longer than 6 months prior to presentation. One hundred and forty four subjects (59.5%) had received no care at all, while 36.4% had received treatment from traditional/religious healers prior to presentation. The most disabling conditions were ADHD (80%), mental retardation (77.8%), epilepsy (64.1%) and psychotic disorders (50%). There is urgent need for extending mental health services into the community in order to improve access to care and increase awareness about effective and affordable treatments.
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PMID:Pathways to Psychiatric Care for Children and Adolescents at a Tertiary Facility in Northern Nigeria. 2829 78

Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism. This review focuses on neuropsychiatric disorders frequently experienced by premutation carriers with 55 to 200 CGG repeats and the pathophysiology involves elevated FMR1 mRNA levels, which is different from the absence or deficiency of fragile X mental retardation protein (FMRP) seen in FXS. Neuropsychiatric disorders are the most common problems associated with the premutation, and they affect approximately 50% of individuals with 55 to 200 CGG repeats in the FMR1 gene. Neuropsychiatric disorders in children with the premutation include anxiety, ADHD, social deficits, or autism spectrum disorders (ASD). In adults with the premutation, anxiety and depression are the most common problems, although obsessive compulsive disorder, ADHD, and substance abuse are also common. These problems are often exacerbated by chronic fatigue, chronic pain, fibromyalgia, autoimmune disorders and sleep problems, which are also associated with the premutation. Here we review the clinical studies, neuropathology and molecular underpinnings of RNA toxicity associated with the premutation. We also propose the name Fragile X-associated Neuropsychiatric Disorders (FXAND) in an effort to promote research and the use of fragile X DNA testing to enhance recognition and treatment for these disorders.
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PMID:Fragile X-Associated Neuropsychiatric Disorders (FXAND). 3048 60


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