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Source: www.ncbi.nlm.nih.gov --- 4 days ago
Related Articles Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with Mental Retardation. Dis Markers. 2008;24(6):319-24 Authors: Santos M, Yan J, Temudo T, Oliveira G, Vieira JP, Fen J, Sommer S, Maciel P In this work we explored the role of the 3'UTR of the MECP2 gene in patients with clinical diagnosis of RTT and Mental Retardation; focusing on regions of the 3'UTR with almost 100% conservation at the nucleotide level among mouse and human. By mutation scanning (DOVAM-S technique) the MECP2 3'UTR of a total of 66 affected females were studied. Five 3'UTR variants in the MECP2 were found (c.1461+9G>A, c.1461+98insA, c.2595G>A, c.9961C>G and c.9964delC) in our group of patients. None of the variants found is located in putative protein-binding sites nor predicted to have a pathogenic role. Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation. PMID: 18688080 [PubMed - indexed for MEDLINE] ... Source: www.emaxhealth.com --- 10 days ago
A rare genetic disorder called tuberous sclerosis complex (TSC) is yielding insight into a possible cause of some neurodevelopmental disorders: structural abnormalities in neurons, or brain cells. Researchers in the F.M. Kirby Neurobiology Center at Children's Hospital Boston, led by Mustafa Sahin, MD, PhD, and Xi He, PhD, also found that normal neuronal structure can potentially be restored. read more ... Source: www.milforddailynews.com --- 3 days ago
In the wake of the October 1 federal appeals court ruling that U.S. District Court Judge Joseph Tauro lacked jurisdiction to order the Fernald Developmental Center to remain as an option for its current residents, the Patrick administration is pulling out all the stops to shutter the facility. Layoffs are being implemented with announcements of more on the way. A clinical unit at Fernald will be closed. Morale among the remaining staff is dropping rapidly. None of this might appear to be of pressing concern to anyone outside of the Fernald community. But it should be for one key reason. The administration is pushing ahead with Fernald's closure in the apparent absence of a plan for the care of all persons with Mental Retardation in the commonwealth. The Department of Mental Retardation provides services and supports to more than 30,000 people in Massachusetts. Roughly 9,000 people with Mental Retardation currently live in community-based residences in the state, according to departmental figures for Fiscal Year 2002 (the year of the department's most recent annual report on its website). Somewhat less than 1,000 people with Mental Retardation live in the state's six remaining large facilities for care, including Fernald. Major problems confront this large group of people, both in the community and in institutional settings. In the community system, services and supports are subject to little effective governmental oversight and ... Source: www.milforddailynews.com --- 3 days ago
In the wake of the October 1 federal appeals court ruling that U.S. District Court Judge Joseph Tauro lacked jurisdiction to order the Fernald Developmental Center to remain as an option for its current residents, the Patrick administration is pulling out all the stops to shutter the facility. Layoffs are being implemented with announcements of more on the way. A clinical unit at Fernald will be closed. Morale among the remaining staff is dropping rapidly. None of this might appear to be of pressing concern to anyone outside of the Fernald community. But it should be for one key reason. The administration is pushing ahead with Fernald's closure in the apparent absence of a plan for the care of all persons with Mental Retardation in the commonwealth. The Department of Mental Retardation provides services and supports to more than 30,000 people in Massachusetts. Roughly 9,000 people with Mental Retardation currently live in community-based residences in the state, according to departmental figures for Fiscal Year 2002 (the year of the department's most recent annual report on its Web site). Somewhat less than 1,000 people with Mental Retardation live in the state's six remaining large facilities for care, including Fernald. Major problems confront this large group of people, both in the community and in institutional settings. In the community system, services and supports are subject to little effective governmental oversight and ... Source: www.ncbi.nlm.nih.gov --- 2 days ago
Related Articles The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat. 2008 Aug;29(8):992-1006 Authors: Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y The RAS proteins and their downstream pathways play pivotal roles in cell proliferation, differentiation, survival and cell death, but their physiological roles in human development had remained unknown. Noonan syndrome, Costello syndrome, and cardio-facio-cutaneous (CFC) syndrome are autosomal dominant multiple congenital anomaly syndromes characterized by a distinctive facial appearance, heart defects, musculocutaneous abnormalities, and Mental Retardation. A variety of mutations in protein tyrosine phosphatase, non-receptor type 11(PTPN11) has been identified in 50% of Noonan patients. Specific mutations in PTPN11 have been identified in LEOPARD (multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, Retardation of growth, and sensorineural deafness) syndrome. In 2005, we discovered Harvey-RAS (HRAS) germline mutations in patients with Costello syndrome. This discovery provided a clue to identification of germline mutations in Kirsten-RAS (KRAS), BRAF and mitogen-activated protein kinase kinase 1 and 2 (MAP2K1/MAP2K2) in patients with CFC syndrome. These genes encode molecules in the RAS/RAF/MEK/extracellular signal-regulated kinase (ERK) pathway, leading to a new con ... Source: www.ncbi.nlm.nih.gov --- 3 days ago
Related Articles Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. Neurotoxicology. 2008 Sep 18; Authors: Zamoner A, Heimfarth L, Pessoa-Pureur R Developmental thyroid hormone (TH) deficiency leads to Mental Retardation and neurological deficits in humans. In this study, congenital hypothyroidism was induced in rats by adding 0.05% 6-propyl-2-thiouracil in the drinking water during gestation and suckling period. This treatment induced hyperphosphorylation of neurofilaments, the neuronal intermediate filament (IF) proteins, of heavy, medium and low molecular weight (NF-H, NF-M and NF-L, respectively) without altering the phosphorylation level of astrocyte IF proteins, glial fibrillary acidic protein (GFAP) and vimentin in cerebral cortex of rats. NF-H was hyperphosphorylated on KSP repeats in the carboxy-terminal tail domain. Furthermore, the immunocontent of GFAP and NF subunits was down-regulated, while vimentin was unaltered both in tissue homogenate and in cytoskeletal fraction of hypothyroid animals. Moreover, we verified the immunocontent of astrocyte glutamate/aspartate transporter (GLAST) and glutamate transporter-1 (GLT-1) as well as activation of mitogen-activated protein kinases (MAPKs) in hypothyroid rats. Results showed that hypothyroidism is associated with decreased GLAST and GLT-1 immunocontent. Additional ... Source: www.ncbi.nlm.nih.gov --- 3 days ago
Related Articles Importance of Schedule of Administration in the Therapeutic Efficacy of Guanosine: Early Intervention After Injury Enhances Glutamate Uptake in Model of Hypoxia-ischemia. J Mol Neurosci. 2008 Oct 10; Authors: Moretto MB, Boff B, Lavinsky D, Netto CA, Rocha JB, Souza DO, Wofchuk ST Perinatal cerebral hypoxia-ischemia (HI) is an important cause of mortality and neurological disabilities such as cerebral palsy, epilepsy, and Mental Retardation. The potential for neuroprotection in HI can be achieved mainly during the recovery period. In previous work, we demonstrated that guanosine (Guo) prevented the decrease of glutamate uptake by hippocampal slices of neonatal rats exposed to a hypoxic-ischemic (HI) insult in vivo when administrated before and after insult. In the present study, we compared the effect of Guo administration only after HI using various protocols. When compared with the control, a decrease of [(3)H] glutamate uptake was avoided only when three doses of Guo were administered immediately, 24 h and 48 h after insult, or at 3 h, 24 h, and 48 h after injury or at 6 h, 24 h, and 48 h after HI. These findings indicate that early Guo administration (until 6 h) after HI, in three doses may enhance glutamate uptake into brain slices after hypoxia/ischemia, probably resulting in decreased excitotoxicity. PMID: 18846436 [PubMed - as supplied by publisher] ... Source: www.ncbi.nlm.nih.gov --- 2 hours ago
Related Articles Autism, a brain developmental disorder: some new pathopysiologic and genetics findings. Metabolism. 2008 Oct;57 Suppl 2:S40-3 Authors: Costa e Silva JA Autism is a severe neurodevelopmental disorder that is typically diagnosed by 3 years of age. Core symptoms of autism include profound deficits in social interaction and communication, restricted interests, stereotyped responses, and other repetitive patterns of behavior. Other abnormalities include Mental Retardation and comorbid epilepsy. These symptoms underscore the consequences of genetic inheritance for brain function and behavior. The etiology of autism may involve an interaction between genetic susceptibility (mediated by multiple genes) and environmental factors influencing brain development. PMID: 18803965 [PubMed - indexed for MEDLINE] ... Source: www.ncbi.nlm.nih.gov --- 11 days ago
Related Articles Limbic Epileptogenesis in a Mouse Model of Fragile X Syndrome. Cereb Cortex. 2008 Oct 1; Authors: Qiu LF, Lu TJ, Hu XL, Yi YH, Liao WP, Xiong ZQ Fragile X syndrome (FXS), caused by silencing of the Fmr1 gene, is the most common form of inherited Mental Retardation. Epilepsy is reported to occur in 20-25% of individuals with FXS. However, no overall increased excitability has been reported in Fmr1 knockout (KO) mice, except for increased sensitivity to auditory stimulation. Here, we report that kindling increased the expressions of Fmr1 mRNA and protein in the forebrain of wild-type (WT) mice. Kindling development was dramatically accelerated in Fmr1 KO mice, and Fmr1 KO mice also displayed prolonged electrographic seizures during kindling and more severe mossy fiber sprouting after kindling. The accelerated rate of kindling was partially repressed by inhibiting N-methyl-D-aspartic acid receptor (NMDAR) with MK-801 or mGluR5 receptor with 2-methyl-6-(phenylethynyl)-pyridine (MPEP). The rate of kindling development in WT was not effected by MPEP, however, suggesting that FMRP normally suppresses epileptogenic signaling downstream of metabolic glutamate receptors. Our findings reveal that FMRP plays a critical role in suppressing limbic epileptogenesis and predict that the enhanced susceptibility of patients with FXS to epilepsy is a direct consequence of the loss of an important homeostatic factor that mitigates vulnera ... Source: www.charlotte.com --- 6 days ago
The man accused of raping a 12-year-old girl has the mind of a child and the rap sheet of a career criminal. Marcus Maurice Kennedy, 28, came before a judge Thursday, hunched over and staring at the floor. The judge set court hearings and assigned his case to the public defender's office. The procedure was familiar to Kennedy, who has been arrested more than 30 times in the past decade, charged with more than 50 crimes. Kennedy was convicted of a previous sex offense against a minor. But despite his record, he's been to prison only once, for about nine months, and served mostly short stints in jail. And despite his diagnosed Mental disorder, there is no indication a judge deemed him enough of a threat to mandate intensive treatment – a move family members believe could have prevented Wednesday's attack. “That boy's mind is pretty much gone,” said Kennedy's aunt Verlene McMoore, who said she repeatedly tried to get him help. “He needed to be under constant supervision somewhere, and no one ever made that happen. And now my heart is breaking for that little girl.” McMoore, who raised Kennedy from age 4 until he left home at 16, said he was hit by a truck as a child. The accident crushed his skull and left him functioning at a level barely above Mental Retardation. Kennedy also suffers from a severe Mental illness: schizoaffective disorder, a condition that can lead to mood swings, hallucinations and delusions. His aunt said he has ... Source: www.sciencedaily.com --- 3 days ago
Researchers in Texas are reporting the first evidence from human studies that perchlorate, a common pollutant increasingly found in food and water, may interfere with an infant's availability of iodine in breast milk. Iodine deficiency in infants can cause Mental Retardation and other health problems, the scientists note. The study also provides further evidence that iodine intake in U.S. mothers is low and that perchlorate may play a key role. ... Source: www.medicalnewstoday.com --- 6 days ago
Researchers in Texas are reporting the first evidence from human studies that perchlorate, a common pollutant increasingly found in food and water, may interfere with an infant's availability of iodine in breast milk. Iodine deficiency in infants can cause Mental Retardation and other health problems, the scientists note. The study also provides further evidence that iodine intake in U.S. mothers is low and that perchlorate may play a key role. ... Source: newspapertree.com --- 1 day ago
FOR IMMEDIATE RELEASE Contact: Rene Hurtado (915) 319-2075 rhurtado@epmhmr.org 1,500 patients and families to protest Mental Health Waiting List in Downtown El Paso (October 12, 2008, El Paso, TX) Unless State lawmakers increase funding for Mental health services in the upcoming legislative session, over 1,500 El Pasoans will have to go on a waiting list for services. On Thursday, October 16 at 6:00 p.m. 1,500 El Pasoans coping with Mental illness will march to San Jacinto Plaza to raise awareness of the need for funding. The Mental Health March will begin at the corner of Stanton and Arizona and will culminate in a rally at the San Jacinto Plaza. “We are gathering 1,500 people because that is the number of children and adults that will go on the waiting list next year unless we receive funding to increase monthly service targets,” says Gary Larcenaire, CEO for El Paso Mental Health & Mental Retardation. Organizers hope the march will send a message to Austin lawmakers and will provide a powerful visual statement about the impact of a community-wide waiting list. For more information on participating in the walk, please call 887-3410. # # # ... Source: coshoctontribune.com --- 6 days ago
COSHOCTON - The executive director of the Ohio Association of County Boards of Mental Retardation and Developmental Disabilities told members of Coshocton's MRDD board at their regular meeting Thursday night that Heather Kendall is still their employee. ... Source: www.fiercehealthcare.com --- 1 day ago
Dr. Thomas Insel, director of the National Institute of Mental Health, believes that work in the field of linking genetics and Mental illness may finally be turning a corner. Findings in recent months include a study that "Mental illness may come from spontaneous mutations that occur during the earliest development in the womb," and possible links between schizophrenia, autism and Mental Retardation. Article ... Source: www.topix.com --- 7 days ago
In the study, published in the journal Clinical Genetics, the two individuals with deletions of the long arm of chromosome 16 were identified among more than 22,000 patients with unexplained Mental Retardation ... ... Source: reaganquotes.wordpress.com --- 6 days ago
Fetal Alcohol Syndrome (FAS) is one of the three major known causes of birth defects that may result in Mental Retardation. Of the three, FAS is the only one that, at present, is totally preventable. Proclamation 5426 – National Fetal Alcohol Syndrome Awareness Week, 1986, January 8, 1986 Shop for great Reagan-themed gifts… t-shirts, bumper stickers, mugs, baby items [...] ... Source: www.floridachildinjurylawyer.com --- 10 days ago
Do Florida children with ADHD (Attention Deficit Hyperactivity Disorder) qualify for Special Education under IDEA (Individuals with Disabilities Education Act)? Like many legal questions that I face as a child rights attorney every day, the answer is "it depends". ADHD is not particularly listed as one of the conditions that could qualify a child / student for Special Education under IDEA. These conditions include the following: Autism Hearing impairment (which includes deaf children) Visual Impairment (which includes blind children) Mental Retardation Serious emotional disturbances Traumatic Brain Injury (TBI) Orthopedic and related physical impairment Special learning disability Other health impairment The United States Department of Education did add ADHD as a condition under "Other health impairment" as noted in the Children with ADD/ADHD -- Topic Brief in March 1999 . However, a parent must show that the ADHD alone or the ADHD combined with other noted conditions produces a need on the part of the child for Special Education. ... Source: www.ouradopt.com --- 10 days ago
During 15 years of fostering children for the state of Michigan, we have helped to parent nearly 100 children. We adopted a daughter who came to us as an almost four year old who is now 15, who has FASD. When she came to us, her diagnosis was cognitively impaired also known as mild Mental Retardation. Like so many hopeful adoptive parents, we thought it didn’t matter. We thought that with our love and every special service available she could overcome her FAS. In some ways, she has. Today she has an average IQ in the low 90s, and test in the average range for achievement when tests are given verbally. However, life still is not easy for her, or for those of us who live with her. She frequently misunderstands written words making schoolwork a struggle despite an average IQ. She also struggles with writing understandable sentences frequently leaving out words and using incorrect forms of verbs and nouns. This also makes schoolwork a struggle for her. We have tried numerous countermeasures over the years; however, she rarely complies with them even when they really help her succeed. It is not my intent to make fun of children with Fetal Alcohol Syndrome by this blog. However, sharing experiences helps us keep parenting our FASD children in perspective. Maintaining a lighthearted attitude towards the countless mistakes makes life better for the entire family. read more ... Source: health.einnews.com --- 3 days ago
... the Public Debt of the U.S. Treasury will expand. He will also provide support in ... center. Kaiser Permanente: Renee DeLuca was named Ohio region media relations specialist for the integrated ... Donna Palazzo , Erie County Board of Mental Retardation and Developmental Disabilities, recording secretary. The ... ... Find more results for Mental Retardation on RSSMicro.com |
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