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Rett syndrome with all its problems in Indonesia: A review of case reports
Published in Ade Gafar Abdullah, Isma Widiaty, Cep Ubad Abdullah, Medical Technology and Environmental Health, 2020
D. Santosa, D.A. Gurnida, A. Subarnas
Rett syndrome is a neurodegenerative disorder that inhibits the development of the central nervous system and can affect all races in the world. Rett syndrome was firstly introduced by Andreas Rett in 1966. Rett syndrome is characterized by normal psychomotor development in the first month of life, then is followed by loss of psychomotor abilities, the onset of stereotypic hand movements, dementia, ataxia, epilepsy, growth disorders, and mental retardation (Macini 2004). Rett syndrome is caused by a mutation in the MeCP2 gene (Methyl CpG binding Protein 2), which is an essential gene for nerve cell maturity, and is located on the X chromosome. Rett syndrome often occurs in girls with a prevalence of 1:10,000 to 1:23,000 live births. Boys with a genetic history of Rett Syndrome usually do not survive after birth (Percy & Lane 2004, Weaving et al. 2005, Samaco & Neul 2011). Rett syndrome is often diagnosed as autism, cerebral palsy, or non-specific developmental delay (Samaco & Neul 2011). The diagnosis is made based on history and clinical symptoms, and there are no biological markers for this disease, except for specific chromosome examinations (Macini 2004, Percy & Lane 2004, Weaving et al. 2005, Samaco & Neul 2011). In Indonesia, discussion about Rett syndrome is rare, so information is still difficult to obtain by the public. It is very important to recognize the causes, symptoms, characteristics, and even treatment of this disorder (Herini et al. 2004). This case review may be helpful because many health experts may not be familiar with Rett syndrome, especially in Indonesia.
Central nervous system: Paediatric and neurodevelopmental disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Rett syndrome is a clinically distinctive, but until recently, poorly understood disorder, almost exclusively affecting females and almost always sporadic in occurrence. It is characterised by an active regression – the loss of acquired skills – after normal development for at least 6 months, often for longer, and usually a period of stagnation before the onset of regression. Affected girls may appear to show some autistic behaviours, especially during the period of regression. After this, they typically regain social contact, although continuing with hand stereotypies, and often develop other problems such as seizures, scoliosis and autonomic (respiratory and cardiac) instability. They often appear to be ‘locked-in’, wishing for contact but usually unable to communicate by speech or by using their hands. Eye-gaze tracking devices may prove to be very helpful in some girls in promoting communication and the making of decisions and in enabling the assessment of cognitive function.
Treatment and therapy
Published in Rosa Angela Fabio, Tindara Caprì, Gabriella Martino, Understanding Rett Syndrome, 2019
Rosa Angela Fabio, Tindara Caprì, Gabriella Martino
Most treatments are supportive and aim at addressing specific symptoms of Rett Syndrome rather than trying to take on the disorder as an entire entity. Generally speaking, the goal of these treatments is to hold back the decline in abilities, enhance or maintain movement, and support social contact and communication. Most families and physicians find that what works best is a complex, interdisciplinary approach that includes many diverse kinds of therapies. These therapies, which range from traditional approaches to new and experimental ones, may include other health care professionals who are vital members of the healthcare team involved in the treatment of people with Rett Syndrome. They include: orthopedic surgeons, gastroenterologists, pulmonologists, cardiologists, neurologists, developmental specialists, developmental pediatricians, psychologists, special education providers, and nurses.
Development of a tool to assess visual attention in Rett syndrome: a pilot study
Published in Augmentative and Alternative Communication, 2020
Helena Wandin, Per Lindberg, Karin Sonnander
Rett syndrome is a neurodevelopmental disorder almost exclusively affecting females (Neul et al., 2010). The four main diagnostic criteria are (a) partial or complete loss of acquired purposeful hand skills, (b) partial or complete loss of acquired spoken language (including babbling), (c) impaired (dyspraxic) gait, and (d) stereotypic hand movements (Neul et al., 2010). Dyspraxia (i.e., difficulties in initiating and coordinating voluntary movements) contributes significantly to difficulties in controlling movements (Downs et al., 2014; Larsson & Witt Engerström, 2001), and hand function especially is often limited (Downs, Bebbington, Kaufmann, & Leonard, 2011). One common feature is severe communication difficulties. In particular, expressive communication is severely affected, and approximately 80% of individuals diagnosed with Rett syndrome lack speech (Bartolotta, Zipp, Simpkins, & Glazewski, 2011; Didden et al., 2010; Urbanowicz, Downs, Girdler, Ciccone, & Leonard, 2015). Even so, a number of studies have found that people with Rett syndrome enjoy social interaction (Fabio, Giannatiempo, Oliva, & Murdaca, 2011; Sandberg, Ehlers, Hagberg, & Gillberg, 2000; Urbanowicz, Downs, Girdler, Ciccone, & Leonard, 2016), and that the most efficient form of communication is eye pointing (Bartolotta et al., 2011; Didden et al., 2010).
Using eye-tracking technology for communication in Rett syndrome: perceptions of impact
Published in Augmentative and Alternative Communication, 2018
Kelli Vessoyan, Gill Steckle, Barb Easton, Megan Nichols, Victoria Mok Siu, Janette McDougall
Rett syndrome, first described by Andreas Rett 50 years ago (Ronen & Rosenbaum, 2016), is a severe, genetically based neurodevelopmental disorder that occurs in approximately 1 in 10,000–15,000 females (Fehr et al., 2011; Rose et al., 2013). In the majority of cases, it is caused by mutations in the MECP2 gene, which normally contributes to synaptic development and function and is necessary for learning and memory (Amir et al., 1999; Baptista, Mercadante, Macedo, & Schwartzman, 2006; Rose et al., 2013). The disorder is characterized by an initial period of typical development, followed by four stages of disease progression. The first stage sees a slowing of development and begins between the ages of 6 and 18 months. In Stage 2, the regression stage, there is a decline in communication, language, and motor skills. Stereotypic hand movements and apraxia also begin to appear during this stage. Apraxia is the inability to plan and carry out a motor response and is often the most debilitating characteristic (Hunter, 2007), significantly impacting speech and manual dexterity. In Stage 3, the pseudostationary, or plateau, stage, difficulties with apraxia continue; however, there may be improvement in communication and motor skills. Stage 3 presentation may persist into the adult years. At 10 years of age or older, Stage 4 may begin, characterized by increased rigidity, decreased mobility, and for some, a decrease in repetitive hand movements (Bartolotta, Zipp, Simpkins, & Glazewski, 2011; Hagberg, 2002; Lee, Leonard, Piek, & Downs, 2013). With syndrome progression, loss of speech and decreased functional hand use necessitate exploration of alternate communication methods.
Medical Issues in Adults with Rett Syndrome – A National Survey
Published in Developmental Neurorehabilitation, 2020
Mari Wold Henriksen, Hilde Breck, Stephen von Tetzchner, Benedicte Paus, Ola H. Skjeldal
Rett syndrome (RTT, OMIM 312750) is a severe neurodevelopmental disorder affecting approximately 1:9–10.000.4,5 RTT is characterized by an apparently normal early development followed by neurological regression affecting motor, cognitive and communication skills, and is mainly found in females. More than 95 percent of females with classic RTT have a mutation in the MECP2 gene.6 The severity of the syndrome is associated with the type of mutation and where it is located on the gene.7