Monday, July 20, 2009

International Rett Syndrome Foundation recognizes Dr. Huda Zoghbi, Dr. Alan Percy

(Cincinnati, OH) - The International Rett Syndrome Foundation (IRSF) celebrated its 25th annual family education and information conference in Leesburg, VA this Memorial Day weekend entitled "Celebrating the Torch Within". Over 250 families and dozens of clinicians and researchers from across the United States participated in this annual event which also recognized the ten year anniversary of the discovery of the MECP2 gene which causes Rett syndrome. On Saturday evening, the Foundation hosted its tribute reception, which featured a keynote address called "How Miracles Are Made" by Carolyn Schanen MD, PhD and Maureen Woodcock, a mother and grandmother of children with Rett syndrome whose family history helped unravel the discovery of the causative gene in this syndrome. "The energy and motivation for research in the RTT field is driven by the patients and their families," said Schanen, who formed a unique partnership with Mrs. Woodcock to see the genetic basis of RTT. At this reception, the foundation presented its annual awards in a touching ceremony, which concluded with a father and daughter dance that brought tears to the eyes of almost everyone in the room. On this ten year anniversary of the gene discovery, Dr. Huda Zoghbi was presented with the foundation's most prestigious research award, The Circle of Angels Research Award. Since the discovery of the gene in her lab, Zoghbi has continued to unravel the puzzle of Rett Syndrome, and her studies have led to a better understanding of how mutations in the gene MECP2 result in the neurodevelopmental disorder. She is a professor in the departments of molecular and human genetics, pediatrics, neurology and neuroscience at Baylor College of Medicine, an investigator with the Howard Hughes Medical Institute in Houston, TX.. Zoghbi, received the Foundation's Circle of Angels Research Award in a recent ceremony at BCM attended by her scientific peers, members of her laboratory and her first Rett Syndrome patient. Kathryn Kissam, chairman of the board of directors of the Foundation, presented Zoghbi with an engraved crystal flame. She received flowers from members of the family of her first Rett Syndrome patient, whose DNA samples were used in the discovery of the MECP2 gene. Dr. Alan Percy, Associate Director of Clinical Neuroscience at the University of Alabama at Birmingham School of Medicine, received the foundation's highest award for a clinician, "The Art of Caring Award". This award was presented by Clifford and Judy Fry, one of Dr. Percy's first patient families. Dr. Percy received a standing ovation from the standing-room-only crowd. Dr. Percy is a beloved physician and highly recognized authority of Rett syndrome and other neurometabolic rare diseases who has been involved with Rett syndrome since the early days. Chuck Curley, former executive director of IRSF and long-time Rett syndrome advocate, received the foundation's "Giving Hope a Hand" Award for his passionate years of service to the foundation's mission to accelerate treatments and a cure of Rett syndrome. Since his daughter, Caroline (13), was diagnosed with Rett syndrome, Chuck has dedicated his life to advocating for Rett syndrome, hosting fundraisers, lobbying Congress, and raising awareness of this debilitating disease. Shelley and Shawn Mansfield of Annandale, Virginia, who serve as regional representatives for the IRSF and on the foundation's Family Advisory Board, received the "Volunteer of the Year" award for their efforts to connect and educate Rett syndrome families, raise funds for research and advance the foundation forward. Contact: Kathryn Kissam 225-810-3687 International Rett Syndrome Foundation Source: International Rett Syndrome Foundation

Society for neuroscience article: Brain breifings (Rett Syndrome)

APRIL 2007 Traditionally, children affected by Rett Syndrome have had few options for treatment. But research has uncovered the genetic causes behind the disease, providing possible targets. Also, scientists have made significant progress with animal studies, including effectively reversing symptoms of the disorder. These advances give hope to researchers developing new treatments. -------------------------------------------------------------------------------- A little girl suddenly stops walking and talking. Soon, she can't use her hands. Later, she can't breathe very well, begins having seizures, and eventually may die. It can be difficult to understand how this can happen to a seemingly normal child, but such is the case of those with Rett Syndrome (RTT), an incurable neurological disorder that targets girls almost exclusively. RTT is a rare disease -- it affects approximately 1 in every 10,000 to 12,000 females -- and seemingly strikes at random. Those with RTT develop normally at first, but between 6 and 18 months of age, symptoms begin to appear. The child stops achieving normal developmental milestones, such as acquiring verbal skills. She begins wringing her hands in anxiety. About 50 percent of girls with RTT become wheelchair-bound, but the degree of a person's developmental skills depends largely on the severity of the disease. Many live into adulthood, but their average life expectancy falls below the national average. Current treatments merely manage the symptoms with medications, various forms of speech and physical therapy, and support for families. But research has made strides, including the discovery that RTT also can strike males with no family history of the disorder. More than 40 years of research have led to: The discovery that RTT is caused by specific genetic mutations, providing a potential target for researchers. The identification of more than 200 associated mutations. Clinical trials focusing on drugs to enhance the quality of life for those affected. RTT is caused by a mutation in the gene that encodes methyl cytosine-binding protein 2 (MeCP2), which is located only on the X chromosome. This is part of the reason for RTT's prevalence in girls, who inherit one X chromosome from each parent. Most boys born with RTT die so soon after birth that statistics on such cases are hard to obtain. MeCP2 regulates the production of proteins generated by other genes by shutting off the genes like a switch. Normally in girls, one of the two MeCP2 genes is permanently in the "off " position. But in children with RTT, one is defective, so the ability to shut down other genes fails. This causes an overabundance of certain proteins from other genes, and RTT symptoms begin to appear. Recent advances from research in animals have successfully reversed the symptoms of full-blown RTT. In one experiment using genetically engineered mice, researchers silenced MeCP2 by inserting a "roadblock" into the gene. Once RTT symptoms appeared, researchers removed the roadblock to reactivate MeCP2. Symptoms of RTT began to reverse or decrease within four weeks. This gives scientists hope that treatments for children and adults are not too far off. Anxious behavior and high stress levels are common in girls with RTT. The culprit, researchers suspect, are hormones related to stress that become altered by abnormal regulation by MeCP2 genes. Studies of mice show that high levels of corticotrophin-releasing hormone, a stress hormone, occur in the brain areas responsible for controlling stress. This finding may lead to drugs that target stress hormones and reduce the anxiety seen in girls with RTT. The discovery that MeCP2 interacts with a protein that helps support new and existing brain cells has led researchers to question whether this protein contributes to RTT symptoms. When altering levels of this protein in laboratory animals, they found that deleting it caused an earlier onset of RTT symptoms, whereas increasing the level caused later onset and slower disease progression. Further studies will focus on how much of the protein should be used and which parts of the brain should be targeted in order to successfully reduce symptoms. Advances from clinical tests have been small, with only three trials completed since 1999. These trials focused on medications to improve sleep, energy levels, and communication skills. Alternative treatments have used music therapy in efforts to improve hand use, eye contact, and communication, but with little success. A new study is using the drug dextromethorphan to target the receptors of the brain chemical glutamate, which plays a key role in communication between brain cells. Excessive numbers of glutamate receptors can lead to seizures, behavioral problems, and respiratory abnormalities. Researchers hope to determine the most effective dosage needed to control these symptoms and open the way to improved treatments. For additional information, check out: Neuron. 2006 Feb. 2; 49 (3):341-8. The disease progression of Mecp2 mutant mice is affected by the level of BDNF expression. Chang Q, Khare G, Dani V, Nelson S, Jaenisch R. Proceedings of the National Academy of Sciences. Nov. 15, 2006; 103; 18267-18272. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. McGill B, Bundle S, Yaylaoglu M, Carson P, Thaller C, Zoghbi H. Science. 2007. Feb 23; 315(5815):1143-7. Reversal of neurological defects in a mouse model of Rett syndrome. Guy J, Gan J, Selfridge J, Cobb S, Bird A. Neurology. 2006 July 11; 67(1):164-166. Early progressive encephalopathy in boys and MECP2 mutations. Kankirawatana P, Leonard H, Ellaway C, Scurlock J, Mansour A, Makris CM, Dure LS 4th, Friez M, Lane J, Kiraly-Borri C, Fabian V, Davis M, Jackson J, Christodoulou J, Kaufmann WE, Ravine D, Percy AK. Source: Society for Neuroscience 1121 14th Street, Suite 1010 | Washington DC 20005 Phone: (202) 962-4000


O.E. Blinnikova, Cand. Sc. (Med.),geneticist; N.A. Dyomina, geneticist, Honored Physician of R.S.F.S.R. INTRODUCTION Treatment of congenital pathology, in particular, of the group of monogenic diseases has definite restrictions due to the stability of the altered hereditary cell apparatus. As yet, no effective therapy methods have beeen developed to treat the majority of inherited illnesses. Different types of symptomatic therapy, surgical correction of developmental defects and rehabilitation methods are used most frequently. In osteogenesis imperfecta the use of a highly efficient set of somatotropic hormone, calcitrine, vitamin D and its active metabolites, phosphorus preparations as well as antioxidants combined with orthopedic operations is indicated (2). Patients suffering from hereditary pathology that is manifested as oligophrenia are administered stimulating therapy, sets of vitamins and microelements.Pathogenetic approaches to the treatment include dietetic therapy in inherited metabolic defects, that is, exclusion or restriction of those substances contained in the food the concentracion of which in blood is too high. According to the Genetics Division of the Pediatrics and Children's Surgery Institute, a stabilization or significant improvement in the course of the main desease as a result of symptomatic and pathogenetic treatment was observed in 67.9% of children with rickets-like hereditary diseases; in 58.4% with hereditary diseases of the connective tissue, and in 58.8% with phenylketonuria. Complete absence of any effect was observed in 5.2%, 7.9% and 41.2%, respectively (2). Progress in the field of the genetic therapy of hereditary illnesses is accelerating, yet prospects of its wide application are not predictable for the years to come (1). In this connection, new approaches of pathogenetic therapy appear to be of utmost importance. MATERIAL AND STUDY METHODS The method of treatment with amino acid compounds developed by A.P. Khokhlov and co-authors is used to correct motor, mental and speech subnormality. Amino acid compounds act at the cellular level eliminating excess calcium, normalizing the transmembranic transport of sodium and potassium ions, increasing the GABA level, stimulating neuron repolarisation and changing the dopamine level. The above-mentioned drugs have a potent nootropic effect, they reduce spasticity, exert an antispasmodic, sedative and diuretic effect, eliminate extrapyramidal symptoms and decrease aggression. The method of treating with amino acid compounds was tested on a group of patients with inherited disorders.20 patients suffering from hereditary syndromic pathology from 14 families, including four pairs of sibs, have been treated with amino acid drugs. Their age varied between 2 and 13 years. In 8 cases the diagnosis had been made before the patients were admitted to the Primavera Medica Center, and in 10 cases it was made by ourselves. The range of nosologic manifestations covered the following syndromes: Sotos syndrome (2 patients) Tel-Hashomer syndrome (2) Williams syndrome (1) Cohen syndrome (2) Seckel syndrome (1) fragile X-chromosome syndrome (2) X-attached mental retardation (2) Stickler syndrome (1) incontinentia pigmenti /Bloch-Sulzberger syndrome/ (1) Rubinstein-Taybi syndrome (2) congenital hypothyreosis (1) tuberous sclerosis (1) as well as a syndrome with unclear aetiology Rett syndrome The main objective in patients with X-attached mental retardation, fragile X-chromosome syndrome, inborn hypothyreosis, Cohen and Williams syndromes was to correct mental deficiency, speech retardation and attentional disorders; this group of patients lacked any neurological symptoms. Clinical manifestations of another group of patients were, besides oligophrenia, different degrees of coordination disturbances, muscular tonicity changes, epileptic seizures and other neurological manifestations. TO READ FULL ARTICLE GO TO LINK Source: PRIMAVERA MEDIKA

National autism association: A very interesting article on mercury poisoning and autism spectrum disorder

source: National Autism Association

Literacy Instruction for individual with autism, CP, Down syndrome and other disabilities: Janice Light & David McNaughton

A very great website giving guidelines for teaching literacy skills to learners with special needs like Autism spectrum disorders Cerebral palsy Down syndrome Developmental apraxia Multiple disabilities. Source: