Reference
- Rett's SyndromeDESCRIPTION
Rett's syndrome (RS) is a neurodevelopmental disorder of infancy almost exclusively affecting females. RS is characterized by severe regression of cognitive, motor, language, and social abilities between the age of 4 and 18 months, following a seemingly normal period of development. Hallmark features include stereotypic hand movements (hand wringing), microencephaly, and autistic-like behaviors. Prevalence ranges from 1:10,000 to 1:22,000 with diverse representation among the world population. The syndrome is named after Andreas Rett who, in 1966, first described its clinical features.
NEUROPATHOLOGY/PATHOPHYSIOLOGY
RS is a genetic disorder caused by mutation on the X-linked MECP2 gene, and subsequent MeCP2 protein deficiency (Amir et al., 1999; Hagberg, 2002). The majority of cases occur sporadically; inherited cases are rare. Genotype–phenotype studies have identified different clinical abnormalities associated with different MECP2 mutations (Percy, 2008a; Zhang & Minassian, 2008).
Studies to determine the specific neuropathology/neurophysiology of RS have found decelerated head growth starting at 3–6 months leading to microencephaly, decreased size of the dendrites of pyramidal neurons in the frontal and temporal lobes, and abnormalities in the substantia nigra. Neuropathology also involves the precentral gyrus, frontal cortex, superior temporal area, and parietal cortex (Brodmann areas 4, 45, 22 and 40). MRI findings have revealed atrophy in selective regions of gray and white matter in the prefrontal, frontal, and anterior temporal regions (Ibrahim & Khan, 2008; Pizzamiglio et al., 2008). EEG findings are characterized by the appearance of focal, multifocal, and generalized epileptiform abnormalities and the occurrence of theta activity in the frontal-central regions. Frequent seizure activity is reported; however, video EEG monitoring is critical because many apparent seizures are not correlated with EEG activity (Glaze, 2002).
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Streaming Media
- Rett Syndrome RevelationScientists from Harvard Medical School have connected the single gene mutated in Rett syndrome with a surprising function. Harrison Gabel and Benyam Kinde talk about their discovery.
- What is Rett Syndrome: RMRAListen to Brooke's, Isabel's and Tatum's parents to learn more about Rett Syndrome, the challenges as well as the hopes and dreams for their children.
- Living With Rett SyndromeAt the annual meeting of Children's Hospital Colorado, Tim and Tania Moore told the story of their daughter, Tatum, who has Rett syndrome, a rare neurological disorder. Hear their story of hope and courage.
- What is Rett Syndrom?The Blue Bird Circle Rett Center at Texas Children’s Neuroscience Center offers comprehensive family-centered care for Rett syndrome, a complex neurological disorder that primarily affects girls and women. Serving between 300 and 400 patients each year, our program is one of the largest and most experienced in the United States.
Online Resources
- Ageing in Rett syndrome.The aim was to gain a UK national sample of people with Rett syndrome across the age range and (1) conduct a cross-sectional comparison of age groups and (2) undertake a longitudinal follow-up. Methods From 308 potential participants approached to take part, a sample of 91 girls and women was achieved (29.5%). Their ages ranged from 4 to 47 years, and 71 were known to have a mutation in the methyl-CpG binding protein-2 ( MECP2) gene. Seventy-two of the initial sample were followed up 16 months later, and 50 returned completed assessments (69.4%).
- Disruption of DNA-methylation-dependent long gene repression in Rett syndrome.Disruption of the MECP2 gene leads to Rett syndrome (RTT), a severe neurological disorder with features of autism. MECP2 encodes a methyl-DNA-binding protein that has been proposed to function as a transcriptional repressor, but despite numerous mouse studies examining neuronal gene expression in Mecp2 mutants, no clear model has emerged for how MeCP2 protein regulates transcription. Here we identify a genome-wide length-dependent increase in gene expression in MeCP2 mutant mouse models and human RTT brains.
- Survival with Rett syndrome: comparing Rett’s original sample with data from the Australian Rett Syndrome DatabaseAim Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these females.
Method We compared the survival of all Austrian female participants from Rett’s historical cohort (1966) with that of affected females registered in the Australian Rett Syndrome Database. The analysis included both Kaplan–Meier analysis and a log-rank test for equality of survivor functions.
Perspectives
The Official Parent's Sourcebook on Rett Syndrome
This sourcebook has been created for parents who have decided to make education and Internet-based research an integral part of the treatment process. Although it gives information useful to doctors, caregivers and other health professionals, it also tells parents where and how to look for information covering virtually all topics related to rett syndrome, from the essentials to the most advanced areas of research. The title of this book includes the word official. This reflects the fact that the sourcebook draws from public, academic, government, and peer-reviewed research. Selected readings from various agencies are reproduced to give you some of the latest official information available to date on rett syndrome.
Understanding Rett Syndrome
Understanding Rett Syndrome offers a concise, evidence-based introduction to Rett Syndrome (RTT), covering a range of topics from diagnosis and causes to treatment and family management. It focuses on improving the quality of life for those with the syndrome by suggesting practical ways of managing the condition at home and at school, offering support and guidance to all parents and caregivers learning how to help children with RTT. Over the course of six chapters, Fabio, Caprì and, Martino explore signs and symptoms of RTT, along with an overview of treatment, therapy, and interventions for those living with the condition, focusing on technological aids such as eye-tracking and ICT and new neural techniques. Illustrated with interviews with parents of children living with RTT, Understanding Rett Syndrome is essential reading for parents and caregivers, as well as practitioners in clinical and educational psychology, counseling, mental health, nursing, child welfare, public healthcare, and those in education.
Pathways to Learning in Rett Syndrome
First Published in 1998. Routledge is an imprint of Taylor & Francis, an informa company.
Websites
- Rett Syndrome Fact Sheet-National Institute of Neurological Disorders & StrokeRett syndrome is a neurodevelopmental disorder that affects girls almost exclusively. It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
The disorder was identified by Dr. Andreas Rett, an Austrian physician who first described it in a journal article in 1966. It was not until after a second article about the disorder, published in 1983 by Swedish researcher Dr. Bengt Hagberg, that the disorder was generally recognized. - Rett syndrome-Genetic & Rare Diseases Information CenterRett syndrome is a progressive, neuro-developmental condition that primarily affects girls. Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills. Additional signs and symptoms may include repetitive, stereotypic hand movements; fits of screaming and inconsolable crying; autistic features; panic-like attacks; teeth grinding (bruxism); episodic apnea and/or hyperpnea; gait ataxia and apraxia; tremors; seizures; and slowed head growth. Some people have an atypical form of Rett syndrome that may be more mild or more severe. Classic Rett syndrome is most commonly caused by mutations in the MECP2 gene and is usually inherited in an X-linked dominant manner. The vast majority of cases are not inherited from a parent, but are due to a new mutation in the affected person. Treatment mainly focuses on the specific signs and symptoms of the condition.[1]
- Rett syndrome-Medline PlusRett syndrome is a brain disorder that occurs almost exclusively in girls. The most common form of the condition is known as classic Rett syndrome. After birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal development before developing severe problems with language and communication, learning, coordination, and other brain functions. Early in childhood, affected girls lose purposeful use of their hands and begin making repeated hand wringing, washing, or clapping motions. They tend to grow more slowly than other children and about three-quarters have a small head size (microcephaly). Other signs and symptoms that can develop include breathing abnormalities, spitting or drooling, unusual eye movements such as intense staring or excessive blinking, cold hands and feet, irritability, sleep disturbances, seizures, and an abnormal side-to-side curvature of the spine (scoliosis).
- International Rett Syndrome FoundationThe International Rett Syndrome Foundation (IRSF) is laser-focused on creating a world without Rett syndrome. For nearly 40 years, we have fueled life-changing advancements in research toward a cure.
As we relentlessly pursue the best research and breakthrough discoveries in Rett syndrome, IRSF helps families thrive through resources, advocacy, and empowerment.