Rett Syndrome-Associated Scoliosis: Analysis of National Trends and Treatment Patterns of a Rare Indication for Posterior Instrumented Fusion.

STUDY DESIGN: Retrospective database cohort study. OBJECTIVE: To evaluate U.S. treatment trends and inpatient outcomes for children undergoing posterior spinal fusion (PSF) for Rett syndrome (RTT)-associated scoliosis (RAS). SUMMARY OF BACKGROUND DATA: RTT is a rare, sporadic neurodevelopmental disorder presenting in childhood with developmental regression, ataxia, and seizures. RAS occurs in 50% to 80% of cases of RTT, but little is known about the case volume and perioperative experience for children undergoing PSF. MATERIALS AND METHODS: Using the International Classification of Diseases Ninth and 10th revision codes in the national Kids' Inpatient Database, we identified children with RTT who underwent PSF from 2000 to 2019. Annual case volumes were analyzed. Clinical characteristics and outcomes were compared with those of a cohort of patients with neuromuscular scoliosis (NMS). RESULTS: Among 220 patients with RAS, 216 (98.2%) were females (mean age at surgery: 12.3±3.3 yr). Surgical case incidence steadily increased over 19 years, with more RAS admissions in the South (31.4%). Overall, patients with RAS demonstrated a higher mean Elixhauser Comorbidity Index score (2 vs . 1, P < 0.001) and had more perioperative complications (41.4% vs . 18%, P < 0.001) than patients with NMS. RTT diagnosis independently predicted higher odds of any complications (odds ratio: 1.98, P < 0.001) and increased length of stay (odds ratio: 1.18, P = 0.009) for admissions for PSF. CONCLUSIONS: Surgical treatment for RAS is rare but increased over a 19-year period. Cases appear to be clustering by region, with the highest proportion in the South. The higher Elixhauser Comorbidity Index in RAS patients predicted higher costs, longer hospital stays, more complications (particularly respiratory), and more nonroutine discharge disposition than in other patients with NMS. RTT was independently associated with higher odds of complications and longer length of stay. Because RAS cases appear to be increasing in number, future studies should emphasize methods to reduce morbidity and investigate deformity-specific metrics to help better understand this population.

Early Complications After Posterior Spinal Fusion in Patients With Rett Syndrome.

BACKGROUND: Neuromuscular scoliosis in Rett syndrome (RS) is common, progressive, and often requires posterior spinal fusion (PSF). While PSF is associated with improved overall outcomes, there is a paucity of information describing complications. We aimed to report the postoperative complications, readmissions, and reoperations for patients with RS undergoing PSF. METHODS: Female pediatric patients with RS treated by PSF with segmental instrumentation, with or without concurrent pelvis fixation, during January 2012 to August 2022 were included. Preoperative patient characteristics, intraoperative data (estimated blood loss, cell saver, packed red blood cells transfused), postoperative complications according to the Modified Clavien-Dindo-Sink classification within 90 days, unplanned readmissions within 30 days, and unplanned reoperations within 90 days were recorded. RESULTS: A total of 25 females were included. The mean (SD) age at surgery was 12.9 (1.8) years and the mean follow-up of 38.6 (24.9) months. The mean preoperative major coronal curve was 79 degrees (23 degrees) which decreased to 32 degrees (15 degrees) by the last follow-up ( P <0.001). The median estimated blood loss was 600 mL and length of stay was 7 days. There were 81 total postoperative complications (3.2 complications/patient). Eight (32%) had grade IVa complications (disseminated intravascular coagulopathy, hypotensive shock, respiratory failure, chronic urosepsis). Five (20%) patients experienced seizures, 48% had pulmonary complications, and 56% had gastrointestinal complications. There were 3 readmissions (12%) within 30 days for pneumonia and 2 (8%) reoperations (an incision and drainage and C2-T2 fusion for significant kyphosis) within 90 days. One patient also had their fusion extended to the pelvis 1 year later. There were more nonambulatory patients in the group fused to the pelvis, but otherwise no differences between those fused and unfused to the pelvis. CONCLUSIONS: This is the largest review of early postoperative complications for patients with RS who underwent PSF. PSF effectively reduced the major coronal curve, but surgeons and families should be aware of a high postoperative seizure and respiratory complication rate, as well as 8% having reoperations within 90 days and 12% being readmitted within 30 days. LEVEL OF EVIDENCE: Level IV-therapeutic study.

Elimination of medically intractable epileptic drop attacks following endoscopic total corpus callosotomy in Rett syndrome.

INTRODUCTION: Rett syndrome is a neurodevelopmental genetic disorder, characterized by developmental delay, hand stereotypies, abnormal gait, and acquired microcephaly. Epilepsy is very common in Rett syndrome and can be medically intractable. It remains uncertain if a patient with epileptic drop attacks associated with this genetic disease can benefit from corpus callosotomy. CASE REPORT: We report an 8-year-old girl with Rett syndrome and medically intractable epileptic drop attacks who underwent endoscopic total corpus callosotomy without any complications that led to the successful elimination of her seizures. CONCLUSION: Total corpus callosotomy is a feasible treatment option for medically intractable epileptic drop attacks in Rett syndrome and should not be considered as a contraindication in this condition. This is the first reported case of corpus callosotomy in Rett syndrome.

A case-controlled comparison of postoperative analgesic dosing between girls with Rett syndrome and girls with and without developmental disability undergoing spinal fusion surgery.

BACKGROUND: Rett syndrome is associated with severe motor and communicative impairment making optimal postoperative pain management a challenge. There are case reports documenting reduced postoperative analgesic requirement in Rett syndrome. AIM: The goal of this preliminary investigation was to compare postoperative analgesic management among a sample of girls with Rett syndrome compared to girls with and without developmental disability undergoing spinal fusion surgery. METHOD: The medical records of eight girls with Rett syndrome (mean age = 13.2 years, sd = 1.9), eight girls with developmental disability (cerebral palsy; mean age = 13.1 years, sd = 2.0), and eight girls without developmental disability (adolescent idiopathic scoliosis; mean age = 13.4, sd = 1.8) were reviewed. Data related to demographics, medications, and route of drug administration were recorded. RESULTS: Girls with Rett syndrome received significantly fewer morphine equivalent opioids postoperatively (M = 0.26 mg·kg-1 ·day-1 , sd = 0.10) compared to girls with adolescent idiopathic scoliosis (M = 0.47mg·kg-1 ·day-1 , sd = 0.13; 95% CI -0.34 to -0.08; P = 0.001) and girls with CP (M = 0.40 mg·kg-1 per day, sd = 0.14; 95% CI -0.27 to -0.02; P = 0.01). Girls with Rett syndrome received significantly fewer opioid patient-controlled analgesic (PCA) bolus doses (given by proxy; M = 42.63, sd = 17.84) compared to girls with adolescent idiopathic scoliosis (M = 98.25, sd = 52.77; 95% CI -96.42 to -14.83; P = 0.01). There was also some evidence indicating girls with Rett syndrome received fewer bolus doses compared to girls with CP (M = 80.88, sd = 38.93; 95% CI -79.05 to 2.55; P = 0.06). On average, girls with Rett syndrome also received smaller total doses of acetaminophen, diazepam, and hydroxyzine. CONCLUSION: This study highlights possible discrepancies in postoperative pain management specific to girls with Rett syndrome and suggests further investigation is warranted to determine best practice for postoperative analgesic management for this vulnerable patient population.

Uso del Clarus Video System® en una vía aérea difícil en paciente con síndrome de Rett / Use of Clarus Video System® in expected difficult airway in a patient with Rett syndrome

El manejo de la vía aérea continúa siendo uno de los puntos clave en nuestra especialidad, ya que la dificultad o imposibilidad para la intubación orotraqueal supone la principal causa de morbimortalidad atribuible a la anestesia. El síndrome de Rett es una grave enfermedad neurológica, incapacitante. Presentamos el caso de una joven de 21 años afecta de síndrome de Rett, con un retraso psicomotor importante, y con criterios de vía aérea difícil, propuesta para una colecistectomía laparoscópica bajo anestesia general. Decidimos utilizar el Clarus Video System® para la intubación de la paciente como primera opción, logrando llevarla a cabo. El uso de los dispositivos ópticos está ganando protagonismo y encontrando un lugar en los más recientes algoritmos de manejo de vía aérea difícil. Queremos resaltar el papel creciente que estos dispositivos juegan en el manejo de la vía aérea difícil, por lo que realizamos una revisión de su situación actual en el manejo de la vía aérea difícil prevista (AU)

Difficult airway management remains one of the key points in our specialty, as the difficulty or impossibility of tracheal intubation is the main cause of morbidity/mortality attributable to anaesthesia. Rett syndrome is a severe and incapacitating neurological disease. We present the case of a 21-year-old girl affected by this syndrome, with significant psychomotor retardation and difficult airway predictors, who was scheduled to have a laparoscopic cholecystectomy under general anaesthesia. We decided on one attempt of Clarus Video System® fiberoptic intubation as primary intervention. Intubation was successfully performed with the help of this optical stylet. The use of optical stylets is gaining prominence and finding a place in the latest algorithms of difficult airway management. We highlight the growing role these devices play in managing difficult airway, therefore we review the current situation of videolaryngoscopes in the management of the predicted difficult airway (AU)

Spinal fusion in girls with Rett syndrome: post-operative recovery and family experiences.

BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder mainly affecting females and scoliosis is a common co-morbidity. Spinal fusion may be recommended if the scoliosis is progressive. This qualitative study investigated recovery of girls with Rett syndrome during the first 12 post-operative months and explored family perspectives and coping around the time of surgery. METHOD: Parents registered with the population-based Australian Rett Syndrome Database were recruited to this study if their daughter had a confirmed pathogenic MECP2 mutation and spinal fusion between 2006 and 2012. Twenty-five interviews were conducted to determine their daughter's recovery and parental stresses and coping. Themes in the interview data were identified with content analysis, and the regaining of gross motor skills over the first 12 post-operative months was described with time-to-event (survival) analysis. RESULTS: Pain and energy levels, appetite, mood and coinciding health issues influenced their daughter's post-operative recovery. The majority of girls recovered preoperative sitting (88%), standing (81%) and walking (80%) by 12 months. The decision to proceed with surgery was associated with feelings of fear, obligation, relief and guilt for families. Development of complications, poor support and feelings of isolation increased their emotional burden whereas adequate information and discharge preparation, confidence in self and staff, and balancing personal needs with their daughter's care relieved this burden. INTERPRETATION: Our study identified clinical practice issues in relation to families whose daughter with Rett syndrome undergoes spinal fusion, issues that are also relevant to other severe disabilities. Return of wellness and gross motor skills following spinal fusion in girls with Rett syndrome occurred within the first 12 post-operative months in most cases. Parents require information and practical support to alleviate their emotional burden.

Perioperative management and outcome of patients with Rett syndrome undergoing scoliosis surgery: a retrospective review.

BACKGROUND: Rett syndrome is a rare genetically inherited neuromuscular disorder exclusively affecting female patients. Progressive scoliosis is one of the main features of the disease and affected individuals are very likely to need spine correction surgery. METHODS: We undertook a retrospective notes review of patients with Rett syndrome who had undergone spine surgery from 2005 to 2013. Patients were identified through the hospital's electronic records. The aim of the present study was to identify the anesthetic implications encountered and the perioperative adverse events, in an effort to improve perioperative management and reduce complications. RESULT: We identified twenty-four children who had 29 procedures in total in this period. Frequent chest infections and poorly controlled epilepsy were the main preoperative findings. There were no adverse events during induction and intubation. Common anesthetic/analgesic drugs were used throughout. Postoperatively, gastrointestinal and respiratory tract complications were the most common. Mean intensive care unit stay was 8.1 days and mean time to discharge from hospital was 26.5 days. We had one in-hospital death. CONCLUSIONS: Our case series demonstrates a high incidence of complications in this subpopulation, mainly postoperative. Extreme postoperative vigilance is required and recovery in a high dependency unit is highly recommended.

Dental issues in Rett syndrome.

The advancements in science and technology allowed saving the lives of children, who had no chance of survival before. Hence the problem of so called rare diseases, usually genetically determined. It is a new challenge for both the physicians and the health services. These children require a coordinated multi specialist oriented health care, which includes also dentists. This situation is reflected by the case of an 18 years old girl with Rett Syndrome, described by us. In this patient despite numerous visits to various dental practices, no decision of a radical surgical extraction of the tooth has been conducted. In our Department the extraction of teeth 22, 16 and 14 has been performed, as a part of 1 day surgery procedures, thus eliminating the dental infections and pain. Conclusion: Elaboration and introduction into praxis principles of dental care in children and young adults with rare diseases are needed.

Experience of gastrostomy using a quality care framework: the example of rett syndrome.

Rett syndrome is one of many severe neurodevelopmental disorders with feeding difficulties. In this study, associations between feeding difficulties, age, MECP2 genotype, and utilization of gastrostomy were investigated. Weight change and family satisfaction following gastrostomy were explored. Data from the longitudinal Australian Rett Syndrome Database whose parents provided data in the 2011 family questionnaire (n=229) were interrogated. We used logistic regression to model relationships between feeding difficulties, age group, and genotype. Content analysis was used to analyze data on satisfaction following gastrostomy. In those who had never had gastrostomy and who fed orally (n=166/229), parents of girls<7 years were more concerned about food intake compared with their adult peers (odds ratio [OR] 4.26; 95% confidence interval [CI] 1.29, 14.10). Those with a p.Arg168 mutation were often perceived as eating poorly with nearly a 6-fold increased odds of choking compared to the p.Arg133Cys mutation (OR 5.88; 95% CI 1.27, 27.24). Coughing, choking, or gagging during meals was associated with increased likelihood of later gastrostomy. Sixty-six females (28.8%) had a gastrostomy, and in those, large MECP2 deletions and p.Arg168 mutations were common. Weight-for-age z-scores increased by 0.86 (95% CI 0.41, 1.31) approximately 2 years after surgery. Families were satisfied with gastrostomy and felt less anxious about the care of their child. Mutation type provided some explanation for feeding difficulties. Gastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families. Our findings are likely applicable to the broader community of children with severe disability.

Síndrome de Rett: doble catéter epidural para control del dolor postoperatorio tras cirugía de escoliosis. Revisión de la bibliografía / Rett syndrome: double epidural catheter for the control of postoperative pain after scoliosis surgery. A literature review

El síndrome de Rett es una enfermedad neurológica grave e incapacitante por un defecto estructural en el brazo corto del cromosoma X (Xq28). Afecta a mujeres y consta de múltiples discapacidades neurológicas progresivas que se manifiestan desde edades tempranas causando invalidez y dependencia de por vida. La escoliosis aparece en más del 50% de los pacientes, con necesidad de corrección quirúrgica en casos de graves angulaciones. Es imprescindible una evaluación preanestésica cuidadosa con el fin de identificar los factores de riesgo y así disminuir la morbimortalidad asociada con el procedimiento quirúrgico. Presentamos el caso de una paciente afectada por este síndrome y escoliosis, programada para la realización de una artrodesis vertebral toracolumbar mediante instrumentación con anestesia general, que transcurrió sin incidentes. Evaluamos las connotaciones específicas de este síndrome, sus potenciales complicaciones y su manejo desde un punto de vista anestésico; remarcando el control del dolor postoperatorio conseguido mediante un doble catéter epidural con infusión de anestésicos locales y fentanilo tras la cirugía(AU)

Rett syndrome is a severe and incapacitating neurological disease caused by a structural defect in the short arm of the X chromosome (Xq28). It affects females and consists of multiple and progressive neurological impairments that start from a young age, leading to lifelong disability and dependency. Scoliosis appears in more than 50% of patients and requires surgical correction in cases where the curvature is severe. Pre-anaesthetic assessment is essential in order to identify the risk factors and thus reduce the morbidity and mortality associated with the surgical procedure. We present the case of a patient affected by this syndrome and scoliosis, who was scheduled to have an instrumented thoracolumbar spine arthrodesis with general anaesthesia, which passed without incident. We evaluate the specific details of this syndrome, its potential complications, and its management from an anaesthetic point of view, emphasising the control of postoperative pain using a double epidural catheter with an infusion of local anaesthetics and fentanyl(AU)

Freehand correction of scoliosis in Rett's syndrome.

We present the case of an 18-year-old girl with a scoliosis (long C-shaped curve) in association with an atypical Rett's syndrome. In order to attain a full correction and to provide her with adequate posture and sitting balance, segmental instrumentation was utilised from the high thoracic spine to the pelvis. We describe the procedure including the relevant pre-operative, intra-operative and post-operative imaging.

[Effect of tracheostomy with imipramine on apneusis attacks in a girl with Rett syndrome].

A girl with Rett syndrome was suffered from severe apneusis attacks, resulting in cardiopulmonary arrest, which required resuscitation. Her apneusis attacks did not respond at all to diazepam, magnesium citrare or tricyclic antidepressants but ceased by tracheostomy with oral imipramine. The breathing abnormality appeared to involve difficulty in terminating inspiration. This supports the idea that a lack of serotonin may cause her apneusis attacks.

[Anesthetic management of a patient with Rett syndrome associated with trismus and apnea attacks].

Rett syndrome (RTT) is a congenital neurological disorder associated with mutations in the gene encoding MECP2 on the X chromosome. An 18-year-old woman (150 cm in height and 29 kg in weight) had been diagnosed with RTT and showed myotonic trismus, frequent attacks of apnea, mental retardation, spastic paraplegia, scoliosis, and microcephalus with micrognathia. She was scheduled to undergo laparoscopic fundoplication and gastrostomy under general anesthesia. Nasal bronchofiberscopic intubation (BFI) was planned because difficult airway due to trismus and micrognathia was expected. Referring to the bispectral index (BIS), anesthesia was induced with intermittent intravenous thiopental (total 125 mg), resulting in successful opening of the mouth by 1.5 of a finger width and establishment of manual ventilation. Following intravenous administration of rocuronium (20 mg), oral BFI was easily accomplished despite Cormack grade III. Anesthesia was satisfactorily maintained with inhalation of sevoflurane (1.0-1.5%) and continuous infusion of remifentanil (0.1-0.2 microg x kg(-1) x min(-1)) with the BIS value ranging from 30 to 50. She recovered smoothly from anesthesia using sugammadex (50 mg). However, she immediately demonstrated trismus and an attack of apnea with shivering, which were successfully resolved by warming the body and intravenous fentanyl (50 microg bolus and subsequent infusion at a rate of 10 microg x hr(-1)). The postoperative course was uneventful. Characteristically, RTT shows an extremely wide range of neurological symptoms. Therefore, it is of great importance to respond to each of those symptoms during the perioperative management of patients with RTT.

[Case of Rett syndrome monitored with BIS and neuromuscular monitor during total intravenous anesthesia].

We describe a case of 8-year-old female patient with Rett syndrome undergoing bilateral tonsillectomy and adenotomy. She was monitored with BIS and neuromuscular monitor using TOF during total intravenous anesthesia (TIVA) with propofol, remifentanil, ketamine and rocuronium. A relatively high infusion rate of propofol (10 mg x kg x hr(-1)) was maintained to keep BIS between 60 and 70 during the surgical procedure, and rocuronium 10 mg IV was administered for tracheal intubation without its further administration during the surgical procedure. Although prolonged effects of anesthetics, analgesics and neuromuscular blockade were reported frequently, she took uneventful course during anesthesia and surgery. Her recovery from anesthesia and neuromuscular blockade was also smooth associated with satisfactory sedated states. BIS and neuromuscular monitor may be useful in TIVA for a patient with Rett syndrome.

Artrodese de coluna: avaliação da satisfação dos cuidadores de pacientes com síndrome de Rett / Artrodesis de la columna: evaluación de la satisfacción de los cuidadores de pacientes con síndrome de Rett / Arthrodesis spine: satisfaction evaluation of the caregivers of patients with Rett syndrome

OBJETIVO: avaliar o nível de satisfação dos cuidadores de pacientes com síndrome de Rett. MÉTODOS: foi realizado um estudo retrospectivo por meio dos prontuários de dez pacientes com Síndrome de Rett, nove femininos e um masculino. Foram obtidos os dados radiográficos e foi elaborado um questionário de 31 perguntas, respondidas pelos familiares dos pacientes. RESULTADOS: a redução média no ângulo pré-operatório e a medida no pós-imediato foi de 72,4 por cento. Complicação pós-operatória ocorreu em apenas um caso, e 87,5 por cento dos cuidadores afirmaram que houve melhora expressiva com relação ao efeito da cirurgia sobre os cuidados pessoais, na função e locomoção; o tempo de permanência na cadeira de rodas aumentou. Para 66,7 por cento dos cuidadores, a frequência de internamentos por problemas médicos e a frequência de pneumonia diminuíram com a cirurgia. Também fizeram uma avaliação positiva sobre a estética da deformidade da coluna. A grande maioria dos cuidadores (85,7 por cento) submeteria novamente seus filhos à cirurgia e recomendariam para outra criança com o mesmo problema. CONCLUSÃO: houve redução significativa na média do ângulo de Cobb entre o pré e pós-operatório e melhoria em todos os aspectos do paciente. Os cuidadores manifestaram que submeteriam seus filhos ao procedimento cirúrgico novamente.

OBJECTIVE: to evaluate the satisfaction of the caregivers of Rett Syndrome (RS) patients. METHODS: For this retrospective study, statistical data were presented by the medical records of 10 patients with RS, nine females and only one male. With the radiological data presented in the medical records, a questionnaire was prepared with 31 questions to be answered by family. RESULTS: the average reduction of the angle that occurred between the preoperative evaluation and the postoperative evaluation was of 72.4 percent. Postoperative complications occurred in only one case, and 87.5 percent of the caregivers said that there was significant improvement with respect to the effect of surgery on personal care, function, locomotion; the time in the wheelchair increased. To 66.7 percent of the caregivers, with the surgery, the frequency of medical admissions and the frequency of pneumonia decreased. They also made a positive evaluation about the aesthetic deformity of the spine. The vast majority of the caregivers (87.5 percent) said that their children could undergo surgery again and they would recommend it to another child with the same problem. CONCLUSION: there was a significant reduction in the mean Cobb angle between the preoperative and postoperative period, an improvement in all aspects of the patient, and caregivers also expressed that their children could undergo to surgery again.

OBJETIVO: evaluar el nivel de satisfacción de los cuidadores de pacientes con síndrome de Rett. MÉTODOS: fue realizado un estudio retrospectivo por medio de las historias clínicas de 10 pacientes con síndrome de Rett, nueve mujeres y un hombre. Fueron obtenidos datos radiográficos y se elaboró un cuestionario de 31 preguntas a los familiares de los pacientes. RESULTADOS: la reducción promedio en el ángulo preoperatorio y el promedio en el postoperatorio fue del 72,4 por ciento. La complicación postoperatoria ocurrió en solo un caso y el 87,5 por ciento de los cuidadores afirmaron que hubo mejoría expresiva con relación al efecto de la cirugía sobre los cuidados personales, en la función y locomoción, y además, el tiempo de permanencia en la silla de ruedas aumentó. Para el 66,7 por ciento, de los cuidadores, la frecuencia de internamientos por problemas médicos y la frecuencia de neumonía disminuyeron con la cirugía. También hicieron una evaluación positiva sobre la estética de la deformidad de la columna. La gran mayoría de los cuidadores (el 85,7 por ciento) sometería nuevamente sus hijos a la cirugía y recomendaría a otro niño con el mismo problema hacer este tipo de corrección. CONCLUSIÓN: hubo una reducción significativa en el promedio del ángulo de Cobb entre el pre y postoperatorio y una mejoría en todos los aspectos del paciente. Los cuidadores manifestaron que someterían sus hijos de nuevo al procedimiento quirúrgico.

[Scoliosis in Rett syndrome--own experience]. / Skolioza u chorych z zespolem Retta--doswiadczenia wlasne.

Rett syndrome (RS) is a rare genetic disorder affecting only girls. The prevalence is 1:15000. The most characteristic features of RS are: lack of development, wringing of the hands. Musculoskeletal system is also affected and scoliosis remains the biggest challenge. Aim of paper is to describe the curve progression pre-operatively, course of surgery and finally radiological and subjective results of treatment. Postoperative follow-up was 3.1 year. We describe a series of 9 girls with RS and scoliosis treated surgically in single Institution. All presented scoliosis that increased with a rate of mean 16.1 degrees per year. Preoperatively curves ranged from 52 degrees up to 120 degrees Cobb angle. Curve pattern was similar in all cases, long thoraco-lumbar curve with thoracic hyperkyphoisis. All girls underwent surgery. Posterior fusion with Luque-Galvestone technique, posterior hybdrid fusion or anterior fusion was performed depending on the degree of scoliosis. Surgery and postoperative period were uneventful. Mean blood loss was 650 ml; mean obtained correction was 38%, with minimal correction loss at final follow-up. No additional surgery was required. Most caregivers were subjectively satisfied with surgery. Scoliosis in RS patients is progressive, with a high annual rate. Surgery should be performed I cases of curves of 40-50 degrees in specialized centers. The procedure is safe, and does not affect general condition nor deteriorate neurological status. In non-ambulant patients fusion should be carried out to the pelvis.

Hip displacement and scoliosis in Rett syndrome - screening is required.

AIM: This study aimed to determine the prevalence of hip displacement and spinal deformity in a clinic population of females with Rett syndrome to define implications for screening and management. METHOD: Age, MECP2 gene status, gross motor function, prevalence of hip displacement, as measured by migration percentage, and spinal deformity, determined by measurement of Cobb angle, were recorded. RESULTS: Thirty-one females with a mean age of 15 years 6 months (SD 5y 4mo) fulfilled a clinical diagnosis of Rett syndrome. Fifteen (48%, 95% confidence interval [CI] 30-67) of the cohort had a hip migration percentage of 30% of more. Eight of the 31 patients (95% CI 12-45) had undergone surgery for the prevention or treatment of hip displacement or dislocation. Twenty-seven of the 31 patients (95% CI 70-96) had a scoliosis, with a Cobb angle of less than 10 degrees; 20 patients (95% CI 45-81) had a Cobb angle greater than 30 degrees. Eleven (95% CI 19-55) patients have required spinal fusion surgery. INTERPRETATION: The prevalence of hip displacement and spinal deformity in a clinic cohort of females with Rett syndrome in Victoria, Australia, was very high. Early, repeated, and consistent clinical and radiological surveillance for hip displacement and spinal deformities is recommended in all young patients with Rett syndrome.

Computer navigation-assisted spinal fusion with segmental pedicle screw instrumentation for scoliosis with Rett syndrome: a case report.

Scoliosis is a common clinical manifestation of Rett syndrome, a neurodevelopmental disorder that almost exclusively affects females. The spinal curve in patients with Rett syndrome is typically a long C curve of a neuromuscular type. As the onset of the scoliosis is very early and shows rapid progression, early surgical intervention has been recommended to prevent a life-threatening collapsing spine syndrome. However, there are high perioperative risks in Rett syndrome patients who undergo spinal surgery, such as neurological compromise and respiratory dysfunction due to rigid spinal curve. We herein report the surgical result of treating severe rapid progressive thoracic scoliosis in a 16-year-old girl with Rett syndrome. Posterior segmental pedicle screw fixation was performed from T1 to L3 using a computer-assisted technique. Post-operative radiography demonstrated a good correction of the curve in both the sagittal and coronal alignment. There were no postoperative complications such as neurological compromise. The patient had maintained satisfactory spinal balance as of the 3-year follow-up examination.

Impact of scoliosis surgery on activities of daily living in females with Rett syndrome.

BACKGROUND: Scoliosis is a common orthopaedic complication of Rett syndrome, and surgery is commonly used to reduce asymmetry in cases with severe scoliosis. METHODS: Data from questionnaires administered to caregivers biennially from 2000 to 2006 were used to describe functional skill levels in subjects with Rett syndrome, and within-subject change in 16 subjects with scoliosis surgery were compared with within-subject change in 186 pairs of data from 86 subjects with conservatively managed scoliosis. Postsurgical assessment was conducted after a mean of 17.8 months. RESULTS: Surgery was associated with improved activities of daily living as measured by the WeeFIM for subjects who were wheelchair bound (P = 0.05). Mobility levels, social interaction, communication skills, and the frequency of daytime napping remained similar for the group as a whole. CONCLUSIONS: Improvements in activities of daily living are likely to represent an increase in the quality of life for subjects and caregivers and were mainly found in subjects who were wheelchair bound, indicating that those who were more severely affected were able to benefit from this intervention. LEVEL OF EVIDENCE: Therapeutic study: level III.