101. Exec Summary Vol 1: No. 4. Screening For Fragile X Syndrome Screening for fragile x syndrome. Jenni Murray 1. In 1991, the gene responsible forfragile x syndrome, a common cause of learning disability, was discovered. http://www.hta.nhsweb.nhs.uk/execsumm/SUMM104.HTM

HTA Home Page Publications Page Health Technology Assessment 1997; Vol. 1: No. 4 (Executive summary) Executive summary View/Download full monograph in Adobe Acrobat format (295 kbytes) View/Download this 4-page summary in Adobe Acrobat format (suitable for printing) Screening for fragile X syndrome Jenni Murray Howard Cuckle Graham Taylor Jenny Hewison Background and aim of review In 1991, the gene responsible for fragile X syndrome, a common cause of learning disability, was discovered. As a result, diagnosis of the disorder has improved and its molecular genetics are now understood. This report aims to provide the information needed to decide whether to use DNA testing to screen for the disorder. How the research was conducted Research findings Natural history Although fragile X syndrome is not curable there are a number of medical, educational, psychological and social interventions that can improve the symptoms. About 6% of those with learning disabilities tested in institutions have fragile X syndrome. Population prevalence figures are 1 in 4000 in males and 1 in 8000 in females. Genetics Screening strategies The principal aim of screening for fragile X syndrome is to reduce the birth prevalence of the disorder, by prenatal diagnosis and selective termination of pregnancy, or by reducing the number of pregnancies in women who have the FM or PM alleles.

102. Fragile X Syndrome fragile x syndrome. Most people with fragile x syndrome have a long trinucleotiderepeat in the FMR1 gene that inhibits transcription. http://www.bios.niu.edu/johns/frag_x.htm

Fragile X syndrome Originally described by Martin and Bell in 1943, and sometimes referred to as Martin-Bell Syndrome. It is the most common X-linked form of mental retardation, and the second most common form of mental retardation after Down's syndrome. The phenotype of the fragile X syndrome (as it came to be most often known) includes moderate to severe mental retardation, hyperactivity, macroorchidism, large ears, prominent jaw, and high-pitched, jocular speech. Expression is variable, with mental retardation the most common feature. Both males and females can be affected, but females are usually not as severe in phenotype. There is an association in females with premature menopause (before age 40). Most people with fragile X syndrome have a long trinucleotide repeat in the FMR1 gene that inhibits transcription. However, there are other mutations of FMR1 that give the same phenotype, but without evidence of a fragile site or broken chromosomes. So, the chromosome breakage is probably a secondary effect of the mutation rather than a primary cause of the mutant phenotype, and the primary cause of the mutant phenotype is altered or missing FMR1 protein. The fragile site is a "secondary constriction" on the X (the primary constriction is the centromere), at Xq27-28. Its appearance is dependent on folate deficiency (which leads to a thymidine monophosphate deficiency). In heterozygotes, the fragile X is NOT preferentially inactivated; this accounts for phenotypic expression in females, half of whose cells will have an active fragile X chromosome.

103. Fragile X Syndrome Encyclopedia Index F fragile x syndrome, Search. fragile x syndrome. FragileX syndrome is the most common cause of inherited developmental delay. http://www.drhull.com/EncyMaster/F/fragile_X_syndrome.html

Help for sleepless parents Encyclopedia Index F fragile X syndrome Search fragile X syndrome Fragile X syndrome is the most common cause of inherited developmental delay. It is caused by a recessive gene mutation on the long arm of the X sex chromosome. Some degree of intellectual impairment is present in affected patients, ranging from mild to severe, but usually moderate. Most children with fragile X syndrome suffer from attention problems as well, and may have a variety of other problems including speech disorders, hand mannerisms and autistic behaviors, and emotional problems. Prevalence in males: 1 in 1,000 to 2,000. Many are learning disabled, others are retarded. About one in 260 women is a carrier. Of these, about 70% of girls carrying the mutation are apparently unaffected. The other 30% may show mild symptoms or may be mentally retarded. This syndrome should be at least considered in any case of unexplained developmental delay, especially in males. Of course, genetic counselling for the family, both immediate and extended, is crucial. Specific DNA testing is available, and can be given to prospective or pregnant mothers who are concerned based on family history they might carry the mutation.

104. Ladders.ORG : Learning & Developmental Disabilities Evaluation & Rehabilitation Dedicated to Research in Autism, Pervasive Developmental Disorder (PDD), Asperger's syndrome, Rett's syndrome, fragile X and Other Developmental Brain Disorders. http://ladders.org/tarf/

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105. NACD - National Association For Child Development - Home The National Academy for Child Development, Inc. is an international organization of parents and professionals dedicated to helping children and adults reach their full potential. The over 15,000 clients served by NACD have come to us with labels including Learning Disabled, Dyslexic, Distractible, ADD, ADHD, Hyperactive, Down syndrome, Fetal Alcohol syndrome, Williams syndrome, Tourettes syndrome, Rett syndrome, fragile X, Developmentally Delayed, PDD, Autistic, Cerebral Palsy, Brain Injured, Comatose, Retarded, Minimal Brain Dysfunction, Normal, Accelerated and Gifted. http://www.nacd.org

The National Association for Child Development is an international organization of professionals and parents dedicated to helping children and adults reach their full potential through the implementation of innovative individual programs, research, and the dissemination of information. 549 25th Street Ogden, Utah 84401-2422 USA Phone: (801) 621-8606 Fax: (801) 621-8389 Send us your comments here

106. Mosaïques Association Des "X Fragile" syndrome de l'X fragile, maladie g©n©tique h©r©ditaire rare avec retard mental, troubles du langage, du comportement, anomalies physiques. http://perso.wanadoo.fr/mosaiques-xfragile/

BIENVENUE SUR LE SITE DE Association des "X Fragile" BOIS COLOMBES ( 92 ) - FRANCE Sonnez ici

107. Allenvale School For Children With Special Needs Wide range of programmes for children with Autism,  Prada Willi syndrome, Down's syndrome, fragile X, and Attention Deficit Disorder. Information on the Rainbow Room, multi sensory environment, preschool, main school, young adults, special needs and kids links, school history and vacancies. http://www.chch.school.nz/allenvale/

A V I S I O N - A F U T U R E Allenvale School for children with Special Needs 14a Aorangi Road Bryndwr Christchurch New Zealand Please contact The Principal : Mrs. Ruth Russ Fax: 03 351-4287 Allenvale school is a day school for children with special needs situated in picturesque Christchurch, New Zealand. We offer a wide range of programs for children with Autism, Prada Willi Syndrome, Down's Syndrome, Fragile X, Attention Deficit Disorder etc. In a Purpose-built, Sp acious Stimulating and Safe Environment by Qualified Specialist Trained Teachers Free Taxi Transport for school age children may be available Allenvale Mission Statement Working together to provide foundations for life's journey Read about our R a i n ... m Ruth Russ won an award for in the Year 2001 Multi Serve National Education Awards. Paulette Cullarn for Allenvale School has won the Telecom Innovative Website Design category in the Year 2000 Multi Serve National Education Awards. This site was updated on January 01, 2004

108. Esmerel's Fragile X Resources fragile X Resources. (Courtesy of Esmerel Home of Unicorn Quest TheKids Typing Tutor Game for One or Two Hands ). Welcome to another http://www.esmerel.org/specific/fraxa.htm

Fragile X Resources (Courtesy of Esmerel: Home of Unicorn Quest : The Kids' Typing Tutor Game for One or Two Hands ) Welcome to another part of Esmerel's Collection of Disability Resources. This page is for disability resources that are dedicated to fragile X. If you know of any other resources or have suggestions, please email Heather. Fragile X FAQ Fraxa Research Foundation Handilinks to Fragile X Syndrome ... Back to the Disabled Directory This page is maintained by Heather Last updated: May 23, 2000

109. Www.aap.org/policy/01493.html http://www.aap.org/policy/01493.html

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