• Journal of the Korean Society of Physical Medicine
• /
• v.2 no.1
• /
• pp.85-91
• /
• 2007

Purpose : The purpose of this study is understanding of Rett Syndrome. Rett Syndrome is a common developmental - neurologic disorder that has been reported almost exclusively in female. Recently mutations in the gene encoding X-linked methyl-CpG binding protein 2 (MECP2) have been identified as the cause of Rett syndrome. Consistent with the diagnostic criteria, hand skills, verbal or non - verbal communication skills and common motor skills were lost during regression. Regression most commonly occurred between 12 and 18 months of age. Methods : This is a literature study with books, articles, web site for Rett syndrome international association. Results : There is a continuing need to further elucidate the pre- and post - regression features of Rett syndrome. Rett syndrome need to physical therapy, musical therapy, special education and medical interventions. Conclusion : There has not been therapeutic method to the root of Rett syndrome but our goal is relaxation of symptom and physical therapist's study of Rett syndrome.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.31 no.2
• /
• pp.131-135
• /
• 2004

Rett syndrome is a neurological disorder seen almost exclusively in females, and found in a variety of racial and ethnic groups worldwide. First described by Dr. Andreas Rett in 1983. The specific features of the Rett syndrome is apraxia. Most of the Rett syndrome has been diagnosed erroneously to autism, cerebral palsy, and unknown developmental disorders. The etiology of the Rett syndrome is not figured out exactly but it seem to have relation with genetic factors. In this case the patient with Rett syndrome had a chief complaint of the injury of palate due to deep bite. We report this case for the satisfactory result using the bite plane to decrease the injury of the palate due to deep bite.

• Herbal Formula Science
• /
• v.9 no.1
• /
• pp.405-417
• /
• 2001

Objective : Rett syndrome is a neurological disorder occurring primarily in girls. By process of treatment for a case which was diagnosed as Rett syndrome and out patient department treatment from the 12th, April, 1999 to November, 2001, the results are as follows. Method & Results : This patient was diagnosed as five-development disorders categories(五遲, 五軟), medicated with Yukmijihwang-tang(Liuweidihwang-tang, 六味地黃湯) and Kyejigayonggolmoryu-tang(Guizhijialonggu-tang, 柱枝加龍骨牡蠣湯). And acupunture therapy was taken on Shinjyungkyuk(shenchongge, 腎正格) and Paekoe(百會 GV 20), Taechu(大椎 GV 14), Renzhong(人中 GV 26). As a result, the patient's hypotonia and intermittent seizures were improved. Conclusion: Rett syndrome is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay. In oriental medicine, RS can be diagnosed as five development disorders categories (五遲, 五軟) and oriental medication with acupuncture treatment can improve RS patient's conditions.

• Clinical and Experimental Pediatrics
• /
• v.45 no.4
• /
• pp.540-544
• /
• 2002

Rett syndrome is an X-linked dominant, progressive neurodevelopmental disorder, with a prevalence estimated to be one in 10,000-15,000 girls, which is thought to be the second most common genetic causes of mental retardation in females after Down syndrome. Patients with classic Rett syndrome show an apparently normal neonatal period, followed by developmental regression and deceleration of head growth, accompanied by gradual loss of speech and purposeful hand use, and development of microcephaly, seizures, autism, ataxia, intermittent hyperventilation and stereotypic hand movements. After regression between infancy and the fifth year of life, the clinical course stabilizes and patients usually survive into adulthood. It was recently discovered that Rett syndrome is caused by mutations in the methyl-CpG binding protein 2(MECP2) gene. Diagnosis of Rett syndrome is clinically difficult before three years of age, especially in atypical cases, but molecular analysis of the MECP2 gene could assist correct diagnosis in some patients. Recently, we diagnosed a case of Rett syndrome in a two year-old girl by mutational analysis of the MECP2 gene and want to report this case with brief review of literature.

• Clinical and Experimental Pediatrics
• /
• v.46 no.10
• /
• pp.996-1002
• /
• 2003

Purpose : In Rett syndrome patients, the incidence of sudden death is greater than that of the general population, and cardiac electrical instability including fatal cardiac arrhythmia is a main suspected cause. In this study, we are going to find out the possible cause of the higher risk of sudden death in Rett patients by the evaluation of heart rate variability, a marker of cardiac autonomic activity and corrected QT intervals. Methods : Diagnosis of Rett syndrome was made by molecular genetic study of Rett syndrome (MECP2 gene) or clinical diagnostic criteria of Rett syndrome. Heart rate variability and corrected QT intervals were measured by 24 h-Holter study in 12 Rett patients, and in 30 age-matched healthy children with chief complaints of chest pain or suspected heart murmurs. The were compared with the normal age-matched control. Results : Patients with total Rett syndrome, classic Rett syndrome, and Rett variants had significantly lower heart rate variability(especially rMSSD)(P<0.05) and longer corrected QT intervals than age-matched healthy children(P<0.05). Sympathovagal balance expressed by the ratio of high to low frequency(LF/HF ratio) also showed statistically significant differences between the three groups considered(P<0.05). Conclusion : A significant reduction of heart rate variability, a marker of autonomic disarray, suggests a possible explanation of cardiac dysfunction in sudden death associated with Rett syndrome.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.25 no.4
• /
• pp.837-842
• /
• 1998

Rett syndrome is a progressive neurological disorder that occurs exclusively in females. The syndrome is characterized by regression of language, motor development, and stereotypic hand movement. Autistic behavior, breathing irregularities, gait dyspraxia, scoliosis, and seizure are also accompanied. The cause of Rett syndrome is unknown, however, it is believed that the X-chromosome might playa significant role in the development of the syndrome. Patients with this syndrome have unusual oral and/or digital habits such as abnormal chewing pattern, bruxism, hypersalivation, micrognathia, high vaulted palate, tongue protrusion with lower posture of tongue, hand biting, digit-hand sucking. Dentists who are aware of distinct manifestations of Rett syndrome will be able to aid in early diagnosis and treatment of the syndrome. Prior to dental treatment for a patient with the Rett syndrome under sedation or general anesthesia, one should assess the degree of hypersalivation, apnea, severity of autism, expected life span. Early recognition of the syndrome and also dental treatment with established strict preventive guidelines for patients with the Rett syndrome may obviate the necessity of sedation or general anesthesia. Two cases with the Rett syndome were reported. Both patients had most of the above mentioned typical manifestations of the syndrome. Dental treatment for the case 1(8-year-old) including caries control, stainless steel crown, sealant application was performed under general anesthesia. The case 2 could not be undergone the dental treatment due to poor general conditions.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.38 no.1
• /
• pp.68-74
• /
• 2011

Rett syndrome is a X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. Oral manifestations of the disease are commonly associated with the clinical conditions such as convulsion activity, difficulties for oral hygiene behavior, walking problems and oral/digitalmanual habits. Bruxism is the most frequently observed oral habit in patients with Rett syndrome. Two cases with the Rett syndrome were reported. Both patients had the typical manifestations like stereotypic hand movement, bruxism and digit-hand sucking. Caries control for the patients was perfomed under general anesthesia.

• Journal of Dental Anesthesia and Pain Medicine
• /
• v.18 no.4
• /
• pp.261-265
• /
• 2018

Rett syndrome (RS) is a neurodevelopmental disorder characterized by loss of cognitive, motor, and social skills, epilepsy, autistic behavior, abnormal airway patterns, gastroesophageal reflux, nutritional problems, and severe scoliosis. Although girls with RS show normal or near-normal growth until 6-8 months, they lose their skills after that. The anesthetic management of these patients requires care because of all these clinical features. Especially in the postoperative period, prolonged apnea is common and extubation is delayed. In this case report, the effect of using sugammadex was presented in a 16-year-old girl with RS. The patient's all bimaxillary teeth and 4 wisdom teeth were extracted under general anesthesia in one session with minimal surgical trauma and moderate bleeding. Sugammadex can be a rapid and reliable agent for the reversal of the neuromuscular block in neurodegenerative patients.

• Clinical and Experimental Pediatrics
• /
• v.45 no.10
• /
• pp.1263-1272
• /
• 2002

Purpose : Rett syndrome(RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000-15,000 female births worldwide. It was initially described by Andreas Rett in 1966. RTT involves developmental regression characterized stereotypic hand movements, tremors, gait apraxia, seizures, deceleration of head growth after the age of 6-18 months. The disease-causing gene was identified as MECP2 on chromosome Xq28. We carried out mutational analysis of MECP2 genes in RTT patients. Methods : Whole blood(5 cc) of 34 sporadic RTT patients was collected in EDTA-anticoagulated tubes. Genomic DNA was extracted from peripheral blood using the E.Z.N.A. blood DNA kit. Four exons of the MECP2 gene were amplified by PCR in 34 Korean with RTT. We carried out PCR divided the exon three into two parts and the exon four into five parts. Primer sequences designed by Amir et al. in 1999 were almost used(AF030876). Sequencing primers used were the same as PCR. DNA sequencing reactions were performed using an ABI 377 DNA sequencer and ABI PRISM dye terminator cycle sequencing reaction kit(Perkin-elmer). The results were compared with the normal DNA sequence(X99686). To confirm the change of sequence on novel mutations, RFLP analysis was performed. Results : The MECP2 mutations were detected in 23(67.6%) of the 34 patients. The mutations consisted of 12 different types including nine missense and three nonsense mutations. Of these, three (L100V, G161E and T311M) mutations were newly identified. Most of the mutations discovered are located within MBD(39.1%) and TRD(39.1%). In this study, three(T158M, R270X, R306C) mutations were identified high frequency. Conclusion : MECP2 gene was also an important cause of Korean RTT patients. MECP2 gene study is an important tool for diagnosis of Korean RTT patients.

• Journal of The Korean Society of Inherited Metabolic disease
• /
• v.5 no.1
• /
• pp.48-56
• /
• 2005

Purpose: Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1 per 10,000~15,000 female births worldwide. The disease-causing gene has been identified as MECP2 (methyl-CpG-binding protein). In this study, we carried out diagnostic mutational analysis of MECP2 gene in RTT patients. Methods: We analyzed four exons and putative promoter of MECP2 gene from the peripheral blood of 43 Korean patients with RTT by PCR-RFLP and direct sequencing. Results: Mutations were detected in MECP2 gene about 60.5% of patients. The mutations consisted of 14 different types including 9 missense mutations, 4 nonsense mutations and 1 frameshift mutation. Of these, three mutations (G161E, T311M, P385fsX409) were newly identified and these were determined as disease-causing mutations by PCR-RFLP and direct sequencing analysis. Most of the mutations were located within MBD (42.3%) and TRD (50%). T158M, R270X, and R306C mutations were identified with high frequency. An intronic SNP (IVS3+23C>G) was newly identified in only three of the patients. It may be a disease-related and Korea-specific SNP with RTT. The L100V and A201V have been reported to be unclassified variant and SNP. However, these mutations were not found in more than 100 normal Korean control samples. These base substitutions seem to be the disease-causing mutations in Korean RTT contrary to previous studies. Conclusion: Disease-causing mutations and polymorphisms would be very important for diagnosing of RTT in Korean. The experimental procedure used in this study might be considered for molecular biologic diagnosis used in clinical field.