Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 52
Filtrar
1.
Pediatrics ; 149(6)2022 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-35607935

RESUMEN

BACKGROUND AND OBJECTIVES: Infants with profound hearing loss are typically considered for cochlear implantation. Many insurance providers deny implantation to children with developmental impairments because they have limited potential to acquire verbal communication. We took advantage of differing insurance coverage restrictions to compare outcomes after cochlear implantation or continued hearing aid use. METHODS: Young children with deafness were identified prospectively from 2 different states, Texas and California, and followed longitudinally for an average of 2 years. Children in cohort 1 (n = 138) had normal cognition and adaptive behavior and underwent cochlear implantation. Children in cohorts 2 (n = 37) and 3 (n = 29) had low cognition and low adaptive behavior. Those in cohort 2 underwent cochlear implantation, whereas those in cohort 3 were treated with hearing aids. RESULTS: Cohorts did not substantially differ in demographic characteristics. Using cohort 2 as the reference, children in cohort 1 showed more rapid gains in cognitive, adaptive function, language, and auditory skills (estimated coefficients, 0.166 to 0.403; P ≤ .001), whereas children in cohort 3 showed slower gains (-0.119 to -0.243; P ≤ .04). Children in cohort 3 also had greater increases in stress within the parent-child system (1.328; P = .02), whereas cohorts 1 and 2 were not different. CONCLUSIONS: Cochlear implantation benefits children with deafness and developmental delays. This finding has health policy implications not only for private insurers but also for large, statewide, publicly administered programs. Cognitive and adaptive skills should not be used as a "litmus test" for pediatric cochlear implantation.


Asunto(s)
Implantación Coclear , Implantes Cocleares , Sordera , Audífonos , Percepción del Habla , Niño , Preescolar , Sordera/psicología , Discapacidades del Desarrollo/cirugía , Humanos , Lactante , Desarrollo del Lenguaje
2.
Dev Med Child Neurol ; 63(11): 1351-1359, 2021 11.
Artículo en Inglés | MEDLINE | ID: mdl-33997959

RESUMEN

AIM: To compare the effect of bilateral submandibular duct ligation and botulinum neurotoxin A (BoNT-A) on drooling severity and its impact on daily life and care in children and adolescents with moderate-to-severe drooling. METHOD: This was a randomized, interventional, controlled trial in which 53 children and adolescents (31 males, 22 females, mean age 11y, range 8-22y, SD 2y 10mo) with cerebral palsy (58.5%) or other non-progressive developmental disorders (41.5%) were randomized to BoNT-A (n=26) or bilateral submandibular duct ligation (n=27). A parent questionnaire on the severity of drooling in specific positions and daily activities and the impact of drooling on daily life and care was filled out at baseline and 8 and 32 weeks posttreatment. RESULTS: Both BoNT-A and bilateral submandibular duct ligation had a positive effect on daily care, damage to electronic equipment and/or furniture, social interactions, and self-esteem. However, bilateral submandibular duct ligation had a significant greater and longer-lasting short- (8wks) and medium-term (32wks) effect on daily care, reducing damage to electronic devices, and improving social interactions and satisfaction with life in general. INTERPRETATION: This randomized controlled trial confirms reduced drooling by both BoNT-A and bilateral submandibular duct ligation, but provides new evidence on improved well-being through a reduction in drooling. Even though there is a greater risk of complications and morbidity after bilateral submandibular duct ligation, compared to BoNT-A there was a significantly greater and longer-lasting positive effect on most outcomes. What this paper adds Bilateral botulinum neurotoxin A (BoNT-A) and submandibular duct ligation had a positive effect on the well-being of individuals with moderate-to-severe drooling. Bilateral submandibular duct ligation had a greater effect on the impact of drooling during daily care than BoNT-A. Bilateral submandibular duct ligation reduced damage to electronic devices and improved social interactions and satisfaction with life.


Asunto(s)
Toxinas Botulínicas Tipo A/uso terapéutico , Discapacidades del Desarrollo/terapia , Calidad de Vida , Conductos Salivales/cirugía , Sialorrea/terapia , Adolescente , Niño , Discapacidades del Desarrollo/tratamiento farmacológico , Discapacidades del Desarrollo/cirugía , Femenino , Humanos , Masculino , Sialorrea/tratamiento farmacológico , Sialorrea/cirugía , Resultado del Tratamiento , Adulto Joven
3.
Pediatrics ; 145(5)2020 05.
Artículo en Inglés | MEDLINE | ID: mdl-32312907

RESUMEN

The demand for transplantable solid organs far exceeds the supply of deceased donor organs. Patient selection criteria are determined by individual transplant programs; given the scarcity of solid organs for transplant, allocation to those most likely to benefit takes into consideration both medical and psychosocial factors. Children with intellectual and developmental disabilities have historically been excluded as potential recipients of organ transplants. When a transplant is likely to provide significant health benefits, denying a transplant to otherwise eligible children with disabilities may constitute illegal and unjustified discrimination. Children with intellectual and developmental disabilities should not be excluded from the potential pool of recipients and should be referred for evaluation as recipients of solid organ transplants.


Asunto(s)
Discapacidades del Desarrollo/cirugía , Discapacidad Intelectual/cirugía , Trasplante de Órganos/ética , Receptores de Trasplantes , Niño , Discapacidades del Desarrollo/psicología , Humanos , Discapacidad Intelectual/psicología , Trasplante de Órganos/psicología , Receptores de Trasplantes/psicología
4.
Eur J Paediatr Neurol ; 24: 40-42, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31917082

RESUMEN

Epilepsy surgery is the most effective treatment option for children with refractory focal lesional epilepsy, with seizure-freedom rates exceeding 70% two years after surgery. Although numbers of procedures in children are increasing over time, epilepsy surgery remains underutilized. Particularly in young children with developmental delay, arrest, or even regression, surgery can improve cognitive outcome. Many factors determine eventual developmental abilities, of which epilepsy duration is the most important modifiable predictor. Earlier surgery is not only associated with higher seizure-freedom rates, it also improves postoperative developmental outcomes. Every child with focal lesional epilepsy should therefore be referred early, to evaluate the possibilities of epilepsy surgery.


Asunto(s)
Discapacidades del Desarrollo/cirugía , Epilepsia Refractaria/cirugía , Epilepsias Parciales/cirugía , Niño , Discapacidades del Desarrollo/complicaciones , Epilepsia Refractaria/complicaciones , Epilepsias Parciales/complicaciones , Humanos , Resultado del Tratamiento
5.
J Glaucoma ; 29(3): 236-238, 2020 03.
Artículo en Inglés | MEDLINE | ID: mdl-31809395

RESUMEN

Frank Ter Haar syndrome (FTHS) is a rare autosomal recessive disorder with characteristic skeletal, cardiac, ocular, and craniofacial abnormalities. We report a sibling pair presenting with clinical features typical of FTHS, born to consanguineous parents, with a novel mutation in the SH3PXD2B gene on chromosome 5q35.1 that results in premature truncation of the protein encoded. The children presented with brachycephaly, multiple joint contractures, cardiac valvular defects, bilateral megalocornea, and congenital glaucoma. Trabeculotomy combined with trabeculectomy was performed in both siblings to control intraocular pressure. The characteristic clinical features with the underlying genetic defects confirmed the diagnosis of FTHS. Early diagnosis and treatment of congenital glaucoma preserved vision in the children.


Asunto(s)
Anomalías Craneofaciales/diagnóstico , Cardiopatías Congénitas/diagnóstico , Hidroftalmía/diagnóstico , Osteocondrodisplasias/congénito , Hermanos , Proteínas Adaptadoras Transductoras de Señales/genética , Consanguinidad , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/cirugía , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/cirugía , Estudios de Seguimiento , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/cirugía , Humanos , Hidroftalmía/genética , Hidroftalmía/cirugía , Lactante , Recién Nacido , Presión Intraocular , Masculino , Mutación , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Osteocondrodisplasias/cirugía , Trabeculectomía , Secuenciación del Exoma
6.
Nutr Clin Pract ; 35(1): 149-156, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-31134674

RESUMEN

BACKGROUND: Factors associated with gastrostomy placement in adolescents with developmental disabilities (DDs) and cerebral palsy (CP) are poorly investigated. We aimed to develop and validate a machine learning (ML) model for gastrostomy placement in adolescents with DDs and CP. METHODS: We performed a multinational, double-blinded, case-control study including 130 adolescents with severe DD and CP (72 males, 58 females; mean age 16 ± 2 years). Data on etiology, diagnosis, spasticity, epilepsy, clinical history, and functional assessments such as the Eating and Drinking Ability Classification System, Manual Ability Classification System, and Gross Motor Function Classification System were collected between 2005 and 2015. Analysis included Fisher exact test, multiple logistic regressions, and a supervised ML model, named PredictMed, to identify factors associated with gastrostomy placement. "Transparent Reporting of a multivariable prediction model for Individual Prognosis or Diagnosis" guidelines were followed. RESULTS: Poor motor function (P < 0.001), trunk muscle tone disorder (P < 0.001), male gender (P < 0.01), epilepsy (P = 0.01), and severe neuromuscular scoliosis (P = 0.04) were factors linked with gastrostomy placement in univariate analysis. Epilepsy (P = 0.03), poor motor function (P = 0.04), and male gender (P = 0.04) were associated with gastrostomy placement in multivariate analysis with 95% accuracy. CONCLUSION: Epilepsy, poor motor function, trunk muscles tone disorder, and male gender were accurate, sensitive, and specific factors associated with gastrostomy need.


Asunto(s)
Parálisis Cerebral/terapia , Discapacidades del Desarrollo/terapia , Gastrostomía/métodos , Intubación Gastrointestinal/métodos , Adolescente , Estudios de Casos y Controles , Parálisis Cerebral/cirugía , Discapacidades del Desarrollo/cirugía , Nutrición Enteral/métodos , Femenino , Humanos , Modelos Logísticos , Aprendizaje Automático , Masculino , Modelos Biológicos , Pronóstico
7.
Seizure ; 71: 190-200, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31386962

RESUMEN

PURPOSE: Polymicrogyria (PMG), although the most common brain malformation, represents a low percentage among patients operated on for epilepsy. In cases of hemispheric PMG, electrical status epilepticus during slow sleep (ESESS) may occur leading to an aggravation of the neurological condition and a risk of drug resistance. In such cases, surgical treatment can be offered. METHODS: From a population of 230 children who underwent hemispherotomy for epilepsy, we retrospectively reviewed the patients with unilateral PMG and drug-resistant ESESS focusing on clinical charts, electrophysiological data and post-surgical outcome. RESULTS: Eighteen patients were operated on at a mean age of 7.2 years. The average age was 2 years at seizure onset and 4.4 years at diagnosis of ESESS. All the patients preoperatively had some degree of developmental delay associated with a hemiparesis. During ESESS all of them evidenced a cognitive decline and eight experienced a worsening of the hemiparesis; ESESS was resistant to at least three antiepileptic drugs. The outcome of epilepsy, with a mean follow-up of 12.8 years showed that ESESS disappeared in all patients while 16 of 18 became seizure-free. An improvement of behavior and cognitive condition was observed in all. CONCLUSION: Hemispherotomy can be helpful in patients with drug-resistant ESESS and hemispheric PMG while keeping in mind that more often an accurate medical treatment can be sufficient. The main benefit of surgery is to definitively stop the seizures and to withdraw the medical treatment while keeping in mind the risk of motor aggravation.


Asunto(s)
Epilepsia Refractaria/etiología , Epilepsia Refractaria/cirugía , Polimicrogiria/complicaciones , Polimicrogiria/cirugía , Sueño de Onda Lenta , Estado Epiléptico/etiología , Estado Epiléptico/cirugía , Niño , Preescolar , Disfunción Cognitiva/etiología , Disfunción Cognitiva/fisiopatología , Disfunción Cognitiva/cirugía , Discapacidades del Desarrollo/etiología , Discapacidades del Desarrollo/fisiopatología , Discapacidades del Desarrollo/cirugía , Epilepsia Refractaria/fisiopatología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Evaluación de Resultado en la Atención de Salud , Paresia/etiología , Paresia/fisiopatología , Paresia/cirugía , Polimicrogiria/fisiopatología , Estudios Retrospectivos , Estado Epiléptico/fisiopatología
8.
Pediatrics ; 143(5)2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-30988024

RESUMEN

BACKGROUND AND OBJECTIVES: Youth with cognitive impairment or developmental disability (CI/DD) face higher rates of obesity and secondary medical issues. Bariatric surgery may be a helpful tool for health improvement because it has been shown efficacious for adolescents. We aim to contribute to literature regarding bariatric surgery for adolescents with CI/DD and explore the association between cognitive functioning and weight loss outcomes. METHODS: Adolescents (N = 64) received a preoperative psychological evaluation, including cognitive assessment, and bariatric surgery at 1 weight loss program between 2010 and 2017. For these adolescents with measured cognitive performance, CI/DD was defined by an IQ <80 or previous diagnosis. In analyses, we compared adolescents with and without CI/DD. Structural equation modeling was used to assess the impact of cognitive functioning on weight loss 3 to 24 months postsurgery. RESULTS: There were no significant differences between adolescents with or without CI/DD in terms of preoperative BMI, age, and sex. Having CI/DD did not significantly impact weight loss or weight loss trajectory in the 2 years after surgery, although modeling revealed a trend toward individuals with CI/DD losing more weight over time. Similarly, intelligence scores did not predict weight loss after surgery. CONCLUSIONS: Bariatric surgery may be a helpful tool for adolescents with severe obesity and CI/DD. They could benefit from the surgery as much as those with typical development, and having CI/DD should not be used as a criterion to deny surgery. Continuing research with this population can be used to determine long-term outcomes in addition to defining best practices.


Asunto(s)
Cirugía Bariátrica/métodos , Disfunción Cognitiva/cirugía , Discapacidades del Desarrollo/cirugía , Gastrectomía/métodos , Obesidad Mórbida/cirugía , Adolescente , Índice de Masa Corporal , Disfunción Cognitiva/epidemiología , Disfunción Cognitiva/psicología , Discapacidades del Desarrollo/epidemiología , Discapacidades del Desarrollo/psicología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Obesidad Mórbida/epidemiología , Obesidad Mórbida/psicología , Cuidados Preoperatorios , Adulto Joven
9.
BMJ Case Rep ; 12(4)2019 Apr 14.
Artículo en Inglés | MEDLINE | ID: mdl-30988102

RESUMEN

We report the case of a 10-month-old boy with an enlarged head circumference and severe motor developmental delay. MRI showed a vein of Galen malformation (VGAM) with a heavily dilated median prosencephalic vein. Digital subtraction angiography confirmed a mural type VGAM with three feeding arteries arising from the posterior cerebral arteries. Due to the short length of the feeding arteries and the high flow, occlusion of the feeding vessels with detachable coils was not possible because of repeated coil dislocation into the dilated vein. Embolization of the three feeding vessels was then performed with a Woven EndoBridge single layer device (WEB SL17). In two arteries complete occlusion was accomplished with the WEB alone and in one artery additional deployment of two coils was necessary. Follow-up imaging at day 1 after treatment as well as 3 and 9 months after embolization showed persistent occlusion.


Asunto(s)
Prótesis Vascular , Discapacidades del Desarrollo/etiología , Embolización Terapéutica , Malformaciones de la Vena de Galeno/complicaciones , Angiografía Cerebral , Discapacidades del Desarrollo/fisiopatología , Discapacidades del Desarrollo/cirugía , Estudios de Seguimiento , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Resultado del Tratamiento , Malformaciones de la Vena de Galeno/diagnóstico por imagen , Malformaciones de la Vena de Galeno/fisiopatología , Malformaciones de la Vena de Galeno/cirugía
10.
Biomed Res Int ; 2019: 6021271, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30881992

RESUMEN

BACKGROUND AND PURPOSE: The Salter innominate osteotomy has been an effective method to treat the developmental dysplasia of hip (DDH) over the past decades; however, several postoperative complications and deficiencies were reported. In this study, we evaluated outcome of a newly modified Salter osteotomy in patients presenting with DDH. METHODS: We reviewed retrospectively 76 patients (90 hips) with DDH aged ≥ 18 months, who underwent open reduction and a modified osteotomy by a single surgeon. The distal osteotomy segment of pelvis was shifted anterolaterally in the amount of osteotomy cross-section, but not downwards. The mean age at surgery was 2 years and 11 months (1.5 to 16 years). Femoral shortening was conducted when necessary. The duration of operation varied between 60 and 90 minutes. The mean follow-up was 4 years and one month (range 15 months to 7 years and 9 months). All patients were followed up both clinically (based on the modified MacKay criteria) and radiologically (based on the modified Severin criteria). RESULTS: Clinically, 94.5% of hips had excellent and good results at final follow-up, and only 5.5% had a fair condition. Radiographically, at the final follow-up 77.8% of hips were grade IA (excellent), 12.2% were grade IB, 6.7% were grade II, and 3.3% were grade III (fair). The preoperative mean acetabular index was 47.85° (41° to 59), which decreased to 17.16° (13° to 22°) immediately after the surgery (p<0.0001) and progressed to 11.24° (7° to 19°) at the final follow-up (p<0.0001). The mean initial postoperative center-edge angle was 30.3° (25° to 42°) significantly improved to 39.1 (31° to 56°) at the final follow-up (p<0.0001). Avascular necrosis of femoral head occurred in 4.4% of hips (4 patients). CONCLUSION: The results show that our modified Salter osteotomy is safe and associated with significant benefit for the management of patients suffering from DDH.


Asunto(s)
Discapacidades del Desarrollo/cirugía , Cabeza Femoral/cirugía , Luxación de la Cadera/cirugía , Osteotomía/métodos , Cartílago/fisiopatología , Cartílago/cirugía , Niño , Preescolar , Discapacidades del Desarrollo/fisiopatología , Femenino , Cabeza Femoral/fisiopatología , Luxación de la Cadera/fisiopatología , Humanos , Lactante , Masculino , Presión , Rango del Movimiento Articular/fisiología , Estudios Retrospectivos , Resultado del Tratamiento
11.
J Pediatr Health Care ; 33(3): 270-279, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30497892

RESUMEN

INTRODUCTION: Children with special health care needs (CSHCN) have chronic conditions that generally are classified as developmental disabilities. Children with developmental disabilities are at high risk of malnutrition. Gastrostomy buttons are frequently used to provide enteral nutrition for children with developmental disabilities. OBJECTIVE: This study aimed to understand caregivers' perceptions regarding gastrostomy button placement for CSHCN. METHODS: Caregivers (N = 257) were recruited from CSHCN peer support groups to complete an online survey regarding perceptions of gastrostomy button placement. Kolmogorov-Smirnov testing found that results were not normally distributed. Nonparametric testing with Spearman rank correlation was used to determine the relationship between Overall Satisfaction With Choice and all other perception variables. RESULTS: The findings suggested overall satisfaction and willingness to accept gastrostomy button placement earlier. CONCLUSION: Gastrostomy button placement has diverse effects for children with developmental disabilities and their families. Health care professionals must be knowledgeable about the positive and negative outcomes to effectively educate families as they consider gastrostomy placement.


Asunto(s)
Cuidadores/estadística & datos numéricos , Discapacidades del Desarrollo/cirugía , Nutrición Enteral/instrumentación , Gastrostomía/instrumentación , Satisfacción del Paciente/estadística & datos numéricos , Adolescente , Niño , Preescolar , Estudios Transversales , Discapacidades del Desarrollo/psicología , Discapacidades del Desarrollo/rehabilitación , Diseño de Equipo , Femenino , Humanos , Lactante , Recién Nacido , Masculino
13.
Sci Rep ; 7(1): 4254, 2017 06 26.
Artículo en Inglés | MEDLINE | ID: mdl-28652574

RESUMEN

Congenital/developmental cataract is a significant cause of blindness in children worldwide. Full knowledge of clinical features is essential for early diagnosis and proper treatment to prevent irreversible visual impairment. We conducted a retrospective chart review on 520 congenital/developmental cataract cases based on a five-year clinical data from Eye and ENT Hospital of Fudan University, Shanghai, China. Clinical features including age at the surgery, chief complaints, interval between initial identification of cataract-related manifestations and surgery, etc. were summarized. 56.3% of children were bilateral. The age at surgery ranged from 0.25 to 17.4 years, only 9.2% receiving surgery below 1 year. Interval between initial identification of manifestations and surgery ranged from 2 days to 17 years. Concomitant congenital abnormalities were present in 67 patients, with persistent hyperplastic primary vitreous and congenital heart disease as the most frequent ocular and systemic disorders. Strabismus and nystagmus were seen in 20.6% and 11.9% of patients. In bilateral cataract patients with strabismus, axial lengths of esotropia-affected eyes were statistically shorter than exotropia-affected eyes. These findings provide information on characteristics of congenital/developmental cataract in China and may assist in achievement of comprehensive treating strategies in these cases.


Asunto(s)
Extracción de Catarata/métodos , Catarata/epidemiología , Discapacidades del Desarrollo/epidemiología , Ojo/fisiopatología , Adolescente , Catarata/congénito , Catarata/fisiopatología , Niño , Preescolar , China/epidemiología , Discapacidades del Desarrollo/fisiopatología , Discapacidades del Desarrollo/cirugía , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Procedimientos Quirúrgicos Oftalmológicos/métodos , Agudeza Visual/fisiología
14.
J Neurosurg Pediatr ; 19(4): 479-489, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28156213

RESUMEN

OBJECTIVE Single-suture craniosynostosis (SSC), the premature fusion of a cranial suture, is characterized by dysmorphology of the craniofacial skeleton. Evidence to suggest that children with SSC are at an elevated risk of mild to moderate developmental delays and neurocognitive deficits is mounting, but the associations among premature suture fusion, neuroanatomy, and neurocognition are unexplained. The goals of this study were to determine 1) whether differences in the brain are present in young children with the 2 most common forms of SSC (sagittal and metopic) several years following surgical correction, and 2) whether the pattern of differences varies by affected suture (sagittal or metopic). Examination of differences in the brains of children with SSC several years after surgery may illuminate the growth trajectory of the brain after the potential constraint of the dysmorphic cranium has been relieved. METHODS The authors compared quantitative measures of the brain acquired from MR images obtained from children with sagittal or metopic craniosynostosis (n = 36) at 7 years of age to those obtained from a group of unaffected controls (n = 27) at the same age. The authors measured the volumes of the whole brain, cerebral cortex, cerebral white matter, cerebral cortex by lobe, and ventricles. Additionally, they measured the midsagittal area of the corpus callosum and its segments and of the cerebellar vermis and its component lobules. Measurements obtained from children with SSC and controls were compared using linear regression models. RESULTS No volume measures of the cerebrum or of the whole brain differed significantly between patients with SSC and controls (p > 0.05). However, ventricle volume was significantly increased in patients with SSC (p = 0.001), particularly in those with sagittal craniosynostosis (p < 0.001). In contrast, the area of the corpus callosum was significantly reduced in patients with metopic synostosis (p = 0.04), particularly in the posterior segments (p = 0.004). Similarly, the area of lobules VI-VII of the cerebellar vermis was reduced in patients with SSC (p = 0.03), with those with metopic craniosynostosis showing the greatest reduction (p = 0.01). CONCLUSIONS The lack of differences in overall brain size or regional differences in the size of the lobes of the cerebrum in children with metopic and sagittal synostosis suggests that the elevated risk of neurodevelopmental deficits is not likely to be associated with differences in the cerebral cortex. Instead, this study showed localized differences between sagittal and metopic craniosynostosis cases as compared with controls in the ventricles and in the midsagittal structures of the corpus callosum and the cerebellum. It remains to be tested whether these structural differences are associated with the increased risk for developmental delay and neurocognitive deficits in children with SSC.


Asunto(s)
Encéfalo/diagnóstico por imagen , Suturas Craneales/anomalías , Craneosinostosis/complicaciones , Craneosinostosis/diagnóstico por imagen , Discapacidades del Desarrollo/etiología , Suturas , Encéfalo/patología , Niño , Suturas Craneales/cirugía , Craneosinostosis/cirugía , Discapacidades del Desarrollo/cirugía , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia Magnética , Masculino , Pruebas Neuropsicológicas
15.
J Neurosurg Pediatr ; 19(2): 232-238, 2017 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-27911244

RESUMEN

Lateral meningocele syndrome (LMS) is a rare genetic connective tissue disorder. It is associated with morphological changes similar to those of other connective tissue disorders, with the unique distinction of multiple, often bilateral and large, lateral meningoceles herniating through the spinal foramina. In some cases, these lateral meningoceles can cause pain and discomfort due to their presence within retroperitoneal tissues or cause direct compression of the spinal nerve root exiting the foramen; in some cases compression may also involve motor weakness. The presence of lateral meningoceles imposes unique challenges related to CSF flow dynamics, especially with concurrent Chiari malformation, which also occurs with increased frequency in individuals with LMS. The authors present the case of a 6-month-old female with LMS with multiple lateral meningoceles throughout the thoracic and lumbar spine. The infant experienced a focal neurological abnormality due to enlargement of her lateral meningoceles following decompression of a symptomatic Chiari malformation and endoscopic third ventriculostomy. The finding was reversed through implantation of a ventriculoperitoneal shunt, which reduced the burden of CSF upon the lateral meningoceles. Such a case compels consideration that CSF flow dynamics in addition to altered connective tissue play a role in the presence of lateral meningoceles in patients within this and similar patient populations.


Asunto(s)
Anomalías Múltiples/cirugía , Meningocele/cirugía , Procedimientos Neuroquirúrgicos/métodos , Anomalías Múltiples/diagnóstico por imagen , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Encéfalo/diagnóstico por imagen , Encéfalo/cirugía , Fisura del Paladar/diagnóstico por imagen , Fisura del Paladar/genética , Fisura del Paladar/patología , Fisura del Paladar/cirugía , Discapacidades del Desarrollo/diagnóstico por imagen , Discapacidades del Desarrollo/genética , Discapacidades del Desarrollo/patología , Discapacidades del Desarrollo/cirugía , Femenino , Humanos , Lactante , Meningocele/diagnóstico por imagen , Meningocele/genética , Meningocele/patología
16.
JAMA Neurol ; 73(9): 1133-40, 2016 09 01.
Artículo en Inglés | MEDLINE | ID: mdl-27400410

RESUMEN

IMPORTANCE: Allogeneic hematopoietic stem cell transplantation (HSCT) has been the only treatment option clinically available during the last 20 years for juvenile metachromatic leukodystrophy (MLD), reported with variable outcome and without comparison with the natural course of the disease. OBJECTIVE: To compare the long-term outcome of patients who underwent allogeneic HSCT with control patients who did not among a cohort with juvenile MLD. DESIGN, SETTING, AND PARTICIPANTS: Patients with juvenile MLD born between 1975 and 2009 and who received HSCT at a median age of 7 years (age range, 1.5-18.2 years) and nontransplanted patients with juvenile MLD born between 1967 and 2007 were included in this case-control study. The median follow-up after HSCT was 7.5 years (range, 3.0-19.7 years). Patients underwent HSCT at 3 German centers between 1991 and 2012. The analysis was done between July 2014 and August 2015. MAIN OUTCOMES AND MEASURES: Survival and transplantation-related mortality, loss of gross motor function (Gross Motor Function Classification in MLD), loss of any language function, and magnetic resonance imaging (MRI) severity score for cerebral changes. To explore prognostic factors at baseline, patients who underwent HSCT (hereafter, transplanted patients) were a priori divided into stable vs progressive disease, according to gross motor and cognitive function. RESULTS: Participants were 24 transplanted patients (11 boys, 13 girls) and 41 control patients (22 boys, 19 girls) who did not receive transplantation (hereafter, nontransplanted patients) with juvenile MLD. Among the transplanted patients, 4 children died of transplantation-related mortality, and 2 additional children died of rapid MLD progression 1.5 and 8.6 years after HSCT, resulting in a 5-year survival of 79% (19 of 24). Among the nontransplanted patients, 5-year survival after disease onset was 100% (41 of 41). However, 11 died of MLD progression, resulting in similar overall survival within the observation period. Nine of the long-term survivors after HSCT had disease progression, while 11 showed stable disease. Compared with the nontransplanted patients, the transplanted patients were less likely to lose their gross motor or language function and demonstrated significantly lower MRI severity scores at the latest examination. Patients after HSCT were more likely to have a stable disease course when undergoing HSCT at an early stage with no or only mild gross motor deficits (Gross Motor Function Classification in MLD level 0 or 1) and an IQ of at least 85, when age at disease onset was older than 4 years, or when MRI severity scores were low (preferably ≤17). CONCLUSIONS AND RELEVANCE: Among patients with juvenile MLD, patients who underwent HSCT had a better gross motor and language outcome and lower MRI severity scores compared with nontransplanted patients. Transplantation at a presymptomatic or early symptomatic stage of juvenile MLD is associated with a reasonable chance for disease stabilization.


Asunto(s)
Trasplante de Células Madre Hematopoyéticas/métodos , Leucodistrofia Metacromática/cirugía , Resultado del Tratamiento , Adolescente , Encéfalo/diagnóstico por imagen , Estudios de Casos y Controles , Niño , Preescolar , Estudios de Cohortes , Discapacidades del Desarrollo/etiología , Discapacidades del Desarrollo/cirugía , Femenino , Humanos , Lactante , Leucodistrofia Metacromática/complicaciones , Leucodistrofia Metacromática/diagnóstico por imagen , Leucodistrofia Metacromática/mortalidad , Imagen por Resonancia Magnética , Masculino , Trasplante Homólogo/métodos , Adulto Joven
17.
Strabismus ; 24(1): 7-11, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26954620

RESUMEN

PURPOSE: To assess the long-term results of a reduced amount of medial rectus recession in children with esotropia and developmental delay. METHODS: A retrospective chart analysis of 42 children with developmental delay who had undergone surgery for esotropia during a 20-year period in a large referral center was performed. The pre- and postoperative angle of deviation was calculated for each subject as the mean of distant and near angles measured by a cover test or the Krimsky measurement. Surgical success was categorized as esotropia or exotropia of ≤10 prism diopters (PD). The main outcome measure was a stable surgical result after several years of follow-up. RESULTS: The chart review identified 42 children who met inclusion criteria, with a mean age of 2.9 years (range, 0.8-10 years). The mean angle of esotropia prior to surgery was 44.29 ± 13.9 PD (range 20-80 PD). All patients had bilateral medial rectus muscle recessions, with a mean surgical dosage of 5.04 ± 0.62 mm per muscle, on average 0.66 mm less than the standard amount. The average postoperative follow-up was 4.6 years (median 3.67 years, range 8 months-15 years). Twenty-four children (57%) achieved surgical success, 13 (31%) were undercorrected, and 5 (12%) were overcorrected. Ten of the 18 with an unsuccessful surgical outcome underwent a second procedure. The overall surgical success rate for all patients after all procedures was 71%. CONCLUSIONS: The main reason for surgical failure after bilateral medial rectus muscle recession (BMR) in developmentally delayed children remains residual esotropia. However, with time, more patients demonstrated consecutive exotropia. Although it is difficult to achieve a stable long-term ocular alignment in children with developmental delay, satisfactory results may be achieved with additional surgical procedures. The optimal amount of primary recession and whether to perform the surgical schedules according to the Parks tables or to reduce the amount of the recession when operating on children with developmental delay is still debatable.


Asunto(s)
Discapacidades del Desarrollo/cirugía , Esotropía/cirugía , Músculos Oculomotores/cirugía , Procedimientos Quirúrgicos Oftalmológicos , Adolescente , Niño , Preescolar , Esotropía/fisiopatología , Femenino , Humanos , Lactante , Masculino , Músculos Oculomotores/fisiopatología , Procedimientos Quirúrgicos Oftalmológicos/métodos , Periodo Posoperatorio , Estudios Retrospectivos , Resultado del Tratamiento , Visión Binocular/fisiología , Agudeza Visual/fisiología
18.
Mol Med Rep ; 12(4): 5655-8, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26238956

RESUMEN

1q21.1 duplication is a rare copy number variant with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described a Chinese female patient (age, four years and eight months) with multiple malformations, including congenital heart defect, mental impairment and developmental delay. The parents and the monozygotic twin sister of the patient, however, were physically and psychologically normal. High­resolution genome­wide single nucleotide polymorphism array revealed a 1.6­Mb duplication in chromosome region 1q21.1. This chromosome region contained HFE2, a critical gene involved in hereditary hemochromatosis. However, the parents and monozygotic twin sister of the patient did not carry this genomic lesion. To the best of our knowledge, the present study was the first to report on a 1q21.1 duplication patient in mainland China.


Asunto(s)
Duplicación Cromosómica , Discapacidades del Desarrollo/genética , Discapacidad Intelectual/genética , Tetralogía de Fallot/genética , Preescolar , Cromosomas Humanos Par 1 , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/patología , Discapacidades del Desarrollo/cirugía , Femenino , Proteínas Ligadas a GPI/genética , Proteína de la Hemocromatosis , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/patología , Discapacidad Intelectual/cirugía , Cariotipificación , Análisis de Secuencia por Matrices de Oligonucleótidos , Tetralogía de Fallot/diagnóstico , Tetralogía de Fallot/patología , Tetralogía de Fallot/cirugía , Gemelos Monocigóticos
19.
Orv Hetil ; 156(26): 1035-9, 2015 Jun 28.
Artículo en Húngaro | MEDLINE | ID: mdl-26104665

RESUMEN

The longitudinal follow-up of the development and course of central nervous system related diseases on a molecular level was unsolved for decades. Direct examination of the pathological state on organ or tissue levels was feasible in the late stage of the disease. Modeling diseases has an important role in studying the pathophysiological mechanism underlying central nervous system disorders but animals used as model organism due to species specific nervous system differences can lead to less valid conclusions in translational research. The model of induced pluripotent stem cells may help to solve partially these types of problems. In recent years this model had a strong effect on understanding the pathogenesis of neurodegenerative and neurodevelopmental disorders. Although induced pluripotent stem cells have a low impact on clinical research studies, they have a prominent role in the field of cell physiology and molecular biology research.


Asunto(s)
Células Madre Pluripotentes Inducidas , Enfermedades del Sistema Nervioso/cirugía , Trasplante de Células Madre , Investigación Biomédica Traslacional , Animales , Aberraciones Cromosómicas , Ensayos Clínicos como Asunto , Discapacidades del Desarrollo/cirugía , Modelos Animales de Enfermedad , Humanos , Enfermedades Neurodegenerativas/cirugía , Reproducibilidad de los Resultados , Especificidad de la Especie , Experimentación Humana Terapéutica
20.
Paediatr Anaesth ; 25(9): 950-5, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25970339

RESUMEN

BACKGROUND: General anesthesia is often preferred for dental surgery or rehabilitation in developmentally delayed pediatric patients. Bispectral index monitoring is used to monitor the depth of anesthesia and to ensure early recovery. However, studies on the topic in developmentally delayed pediatric patients are limited. AIM: To evaluate the effects of Bispectral Index Scale (BIS) on hemodynamics and recovery profile in developmentally delayed pediatric patients undergoing dental surgery. METHODS: Forty children between the ages of 6-16 years were studied in this prospective and randomized study. The children were randomized into two groups. In Group 1 (n = 20), general anesthesia was maintained with 1-2 minimum alveolar concentration (MAC) of sevoflurane in oxygen by standard practice. In Group 2 (n = 20), the depth of anesthesia was monitored by BIS. BIS values were continuously recorded from awake status to tracheal extubation. The duration of the surgical procedure, anesthesia, postanesthesia care unit (PACU) stay was noted. To evaluate recovery profile, time to spontaneous ventilation, extubation, open eyes, and PACU discharge were also noted. RESULTS: There were significant differences between recovery times and Non-communicating Children's Pain Checklist - Postoperative Version (NCCPC-PV) scores of two groups. Time to spontaneous ventilation [Difference in means (95% CI); 3.17 (1.79-4.54) P < 0.001], extubation [Difference in means (95% CI); 3.13 (1.66-4.60) P < 0.001], open eyes [Difference in means (95% CI); 3.97 (2.34-5.59) P < 0.001], and PACU stay time [Difference in means (95% CI); 23.55 (18.08-29.01) P < 0.001] were significantly shorter in Group 2. CONCLUSION: In conclusion, results suggest that routine BIS monitoring may be beneficial due to its favorable effects on the recovery profile in developmentally delayed pediatric patients.


Asunto(s)
Periodo de Recuperación de la Anestesia , Discapacidades del Desarrollo/cirugía , Electroencefalografía , Hemodinámica/efectos de los fármacos , Monitoreo Intraoperatorio/métodos , Procedimientos Quirúrgicos Orales , Adolescente , Anestesia General , Anestésicos por Inhalación , Niño , Femenino , Humanos , Masculino , Éteres Metílicos , Estudios Prospectivos , Sevoflurano , Factores de Tiempo
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA
...