Cases reported "Rett Syndrome"

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1/9. hydrotherapy for rett syndrome.

    OBJECTIVE: The effects of hydrotherapy on an 11-year-old girl with stage III rett syndrome were investigated. methods: The Halliwick method was used to apply hydrotherapy in a swimming pool twice a week for 8 weeks. The girl's physical abilities were assessed 3 times: before and 5 minutes after a single hydrotherapy session and after 8 weeks of hydrotherapy. The tests included analysis of stereotypical movements, functional hand use, hand skills, gait and balance, hyperactive behaviour, communication and social interaction. RESULTS: Immediately after hydrotherapy, stereotypical movements decreased and this decrease continued during the following 8 weeks. The girl's feeding activities and hand skills increased markedly. After 8 weeks of hydrotherapy, her walking balance was improved, interaction with her environment increased and hyperactive behaviour and anxiety decreased. CONCLUSION: In conclusion, after the application of hydrotherapy, stereotypical hand movements had decreased and purposeful hand functions and feeding skills increased in this case. Whether hydrotherapy has a positive effect on the functional use of the hand in rett syndrome should be investigated using more subjects.
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2/9. trisomy 21 and rett syndrome: a double burden.

    rett syndrome is a severe neurodevelopmental disorder generally affecting girls. Affected individuals are apparently normal at birth but later pass through a period of regression with loss of hand and communication skills and the development of hand stereotypies and dyspraxia. Mutations in the methyl-CpG binding protein 2 (MECP2) gene, have now been found to cause rett syndrome in up to 80% of classical cases. We report a girl with down syndrome, one of three children with birth defects in a family of five. From the age of 18 months she developed symptomatology considered by her primary physician to be very characteristic of rett syndrome. However, this remained a clinical diagnosis till the age of 12 years. Laboratory confirmation of the dual diagnosis, which includes a R168X mutation in the MECP2 gene in addition to trisomy 21, has now been possible. The presence of one neurological or developmental disorder does not necessarily preclude a diagnosis of rett syndrome.
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3/9. Fetal alcohol syndrome in association with rett syndrome.

    Fetal alcohol syndrome in association with rett syndrome: We report on a girl with neonatal dystrophy, microcephaly, heart defect, and the characteristic features of alcohol embryopathy. Later, she developed distinctive features of rett syndrome including loss of early acquired developmental skills and presented typical symptoms of rett syndrome as reduction of communication skills, reduction of hand function, hyperventilation, and grinding of teeth. Molecular analysis of the MECP2 gene revealed the c.808T>C (R270X) mutation located in the nuclear localisation signal sequence of the gene. Our report highlights the importance of considering the diagnosis of rett syndrome even in patients who are already suffering from a defined disease.
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4/9. communication abilities in a case of rett syndrome.

    The communication skills in a 4-year-old girl with rett syndrome (RS) prior to, during and after the characteristic regression period are presented. The case study serves to provide a detailed description of the typical communication skills seen in this population, even though this child must be considered an atypical case of RS. The case study emphasizes the need for the assessment and treatment of communication skills in cases with RS to focus on the intentionality and functionality of the child's communication.
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5/9. music therapy as a tool for assessing hand use and communicativeness in children with rett syndrome.

    A six-year-old girl with rett syndrome was assessed in a multi-disciplinary specialist therapy clinic and aspects of her responsiveness and developmental potential were found in the music therapy assessment. Functional hand use, eye-referencing, motivated and intentional communication were observed and reported through video analysis of a 30 min session of music therapy employing improvisational methods. Absent or reduced hand clasping/plucking, interactive turn-taking, primary and secondary inter-subjectivity, and vocalisation with appropriate emotional expression were evident. Stable truncal positioning and occasional gentle restraint of either hand improved both spontaneous and prompted activity.
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6/9. Case of the month: Buffalo chest: a case of bilateral pneumothoraces due to pleuropleural communication.

    Simultaneous spontaneous bilateral pneumothoraces, the presentation of separate right and left pneumothoraces together, is a rare event. The pleural cavities in humans are separated completely and the only previous reports of pleuropleural communication have been associated with major invasive thoracic procedures, specifically mediastinal surgery. The term "buffalo chest" has been coined for the condition on the basis that the buffalo or bison has a single pleural cavity, one of the few mammals to do so. We present the case of a woman with a past history of a single right sided spontaneous pneumothorax but no major thoracic surgery, who presented to the emergency department with a second spontaneous right pneumothorax that was under tension. After thoracostomy, she was found to have bilateral pneumothoraces which resolved with a unilateral chest drain demonstrating pleuropleural communication. We believe this to be the first reported case of such a presentation in the literature. The case demonstrates an unusual emergency presentation of a rare anatomical anomaly.
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keywords = communication
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7/9. rett syndrome: a longitudinal developmental case report.

    rett syndrome is a recently described progressive neurological disorder of unknown etiology occurring only in females, causing severe to profound mental retardation and characterized by loss of purposeful hand use and stereotypic hand movements. The present study examined development in five areas: gross motor skills, fine motor skills, self-help skills, communication, and cognition. Results indicated a general stagnation in all developmental areas beginning at approximately 15 months. No skills progressed beyond the 2-year level; this, despite several years of intensive, interdisciplinary intervention. Cognitive and communication skills regressed, then stabilized for several years, and subsequently began further regression. Gross motor and self-help skills appear to be areas of relative strength.
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8/9. Auditory evoked potentials in rett syndrome.

    This study was designed to assess auditory function in subjects with rett syndrome, a rare neurologic disorder that is characterized by progressive symptoms of dementia, ataxia, respiratory disorder, and communication disorder. Auditory evoked potentials, including the auditory brainstem response (ABR), middle latency response (MLR), and late vertex response (LVR), were recorded in 36 subjects with rett syndrome. Results showed a systematic decline in auditory function from the peripheral to the central auditory system, with normal ABR in all subjects, normal MLR in 50 percent of subjects, and normal LVR in 36 percent of subjects. Results suggest that hearing sensitivity and the functional integrity of eighth nerve and auditory brainstem pathways are not affected in subjects with rett syndrome. However, abnormality of both the MLR and LVR suggest the presence of central auditory disorder.
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9/9. Abnormal mitochondria in rett syndrome: one case report.

    A 6-year-9-month-old girl with the characteristic features of rett syndrome is reported. Clinically, she had microcephaly, psychomotor arrest, deterioration of communication, autistic behaviour, loss of language development, gait apraxia and stereotyped hand washing movement. Amino acid and organic acid analysis were normal. An abnormal rise in serum lactate was noted 120 minutes after oral glucose loading. Muscle biopsy was performed and there was no specific finding noted under light microscope. Electron microscopic evaluation revealed mild accumulation of mitochondria at subsarcolemmal area with abnormal tubular cristae. The cause of rett syndrome remains obscure. Several articles concerning abnormal mitochondrial morphology or respiratory enzymes have been reported. The exact pathogenesis requires further investigation.
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