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1.
Int J Pediatr Otorhinolaryngol ; 131: 109844, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31901483

RESUMO

OBJECTIVE: Identify incidence and factors associated with respiratory complications after type 1 cleft repair. METHODS: Retrospective chart review of patients who underwent cleft repair over a 5-year period performed by a single surgeon. Primary endpoint was respiratory complications (oxygen desaturation <90%). Fisher's exact test was used to identify differences between repair types (endoscopic carbon dioxide laser-assisted repair and injection laryngoplasty). Logistic regression was used to identify predictors of respiratory events. RESULTS: Fifty-five patients were included. Thirty-four (62%) patients underwent endoscopic carbon dioxide laser-assisted repair and 21 (38%) underwent injection laryngoplasty. Average hospital stay for each group was 1.6 days (SD = 3.1) and 0.6 days (SD = 0.9), respectively. Desaturations occurred in three patients (9%) in the laser-assisted repair group and one patient (4%) in the injection group. All occurred within 3 h after surgery and resolved with supplemental oxygen, oral airway placement, and/or mask ventilation. Two affected patients had comorbid diagnosis of asthma (one had poor medication compliance), and one had a history of developmental delay and hypotonia. In the injection group, desaturations occurred in one patient with a history of tracheal stenosis and double aortic arch. No correlation existed between repair type and desaturation (p = 0.57). No variables were significant predictors of events. CONCLUSIONS: In this cohort, respiratory events after type 1 laryngeal cleft repair occurred early in the postoperative period, in children with cardiac and pulmonary comorbidities. This suggests postoperative admission may only be necessary for a select group of patients undergoing type 1 cleft repair. However, further research is needed to determine criteria for same-day discharge.


Assuntos
Anormalidades Congênitas/cirurgia , Laringoplastia/efeitos adversos , Laringoplastia/métodos , Laringe/anormalidades , Oxigênio/sangue , Complicações Pós-Operatórias/etiologia , Asma/complicações , Criança , Pré-Escolar , Estudos de Coortes , Deficiências do Desenvolvimento/complicações , Feminino , Hospitalização , Humanos , Lactente , Recém-Nascido , Injeções , Laringe/cirurgia , Lasers de Gás/uso terapêutico , Tempo de Internação , Masculino , Hipotonia Muscular/complicações , Complicações Pós-Operatórias/sangue , Período Pós-Operatório , Estudos Retrospectivos , Estenose Traqueal/complicações , Anel Vascular/complicações
2.
PLoS Med ; 16(10): e1002952, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31665140

RESUMO

BACKGROUND: Nutritional supplements may improve development of infants born small (preterm or small for gestational age [SGA]) but may increase the risk of later metabolic disease. We conducted a systematic review and meta-analysis to assess the effects of macronutrient supplements for infants born small on later development and metabolism. METHODS AND FINDINGS: We searched OvidMedline, Embase, Cochrane CENTRAL, and Cochrane Database of Systematic Reviews from inception to April 1, 2019, and controlled-trials.com, clinicaltrials.gov, and anzctr.org.au. Randomised or quasirandomised trials were included if the intention was to increase macronutrient intake to improve growth or development of infants born small and assessed post-discharge outcomes. Co-primary outcomes were cognitive impairment and metabolic risk, evaluated in toddlers (<3 years), childhood (3 to 8 years), and adolescence (9 to 18 years). Two reviewers independently extracted data. Quality was assessed using the Cochrane Risk of Bias tool, and data were pooled using random-effect models. Twenty-one randomised and one quasirandomised trial of variable methodological quality involving 3,680 infants were included. In toddlers born small, supplementation did not alter cognitive impairment (relative risk [RR] 1.00; 95% confidence interval [CI] 0.67 to 1.49; P = 0.99), and there were no differences in cognitive scores (mean difference [MD] 0.57; 95% CI -0.71 to 1.84; P = 0.38) or motor scores (MD 1.16; 95% CI -0.32 to 2.65; P = 0.12) between supplemented and unsupplemented groups. However, fewer supplemented children had motor impairment (RR 0.76; 95% CI 0.62 to 0.94; P = 0.01). In subgroup analyses, supplementation improved cognitive scores in boys (MD 5.60; 95% CI 1.07 to 10.14; P = 0.02), but not girls born small (MD -2.04; 95% CI -7.04 to 2.95; P = 0.42), and did not alter cognitive or motor scores in the subgroup of children born SGA. In childhood, there was no difference in cognitive impairment (RR 0.81; 95% CI 0.26 to 2.57; P = 0.72) or cognitive scores (MD 1.02; 95% CI -1.91 to 3.95; P = 0.50) between supplemented and unsupplemented groups. There were also no differences in blood pressure, triglyceride, and low-density lipoprotein (LDL) concentrations (all P > 0.05). However, supplemented children had lower fasting glucose (mmol/L: MD -0.20; 95% CI -0.34 to -0.06; P = 0.005) and higher high-density lipoprotein (HDL) concentrations (mmol/L: MD 0.11; 95% CI 0.02 to 0.19; P = 0.02). In subgroup analyses, there was no evidence of differences in blood pressure between supplemented and unsupplemented groups in boys or girls born small, or in SGA children. In adolescence, there was no difference between supplemented and unsupplemented groups in blood pressure, triglycerides, LDL and HDL concentrations, fasting blood glucose, insulin resistance, and fasting insulin concentrations (all P > 0.05). Limitations include considerable unexplained heterogeneity, low to very low quality of the evidence, and limited data beyond early childhood. CONCLUSIONS: In this systematic review and meta-analysis of randomised trials, we found no evidence that early macronutrient supplementation for infants born small altered later cognitive function, although there was some evidence that supplementation may decrease motor impairment in toddlers. Contrary to the findings from observational studies, evidence from randomised trials suggests that early macronutrient supplementation for infants born small improves some metabolic outcomes in childhood. PROSPERO REGISTRATION: CRD42019127858.


Assuntos
Deficiências do Desenvolvimento/terapia , Suplementos Nutricionais , Doenças Metabólicas/terapia , Nutrientes , Adolescente , Criança , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/prevenção & controle , Feminino , Idade Gestacional , Humanos , Fenômenos Fisiológicos da Nutrição do Lactente , Recém-Nascido , Doenças do Recém-Nascido , Recém-Nascido Prematuro , Recém-Nascido Pequeno para a Idade Gestacional , Masculino , Doenças Metabólicas/complicações , Doenças Metabólicas/prevenção & controle , Gravidez , Ensaios Clínicos Controlados Aleatórios como Assunto , Resultado do Tratamento
3.
Rev Esp Med Nucl Imagen Mol ; 36(4): 260-262, 2017.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28392335

RESUMO

The case is presented of a 3 year-old girl with mitochondrial disease (subacute necrotizing encephalomyelopathy of Leigh syndrome), v-stage chronic kidney disease of a diffuse mesangial sclerosis, as well as developmental disorders, and diagnosed with hyperthyroidism Graves-Basedow disease. Six weeks after starting the treatment with neo-carbimazole, the patient reported a serious case of agranulocytosis. This led to stopping the anti-thyroid drugs, and was treated successfully with 131I ablation therapy. The relevance of the article is that Graves' disease is uncommon in the paediatric age range (especially in children younger than 6 years old), and developing complications due to a possible late diagnosis. Agranulocytosis as a potentially serious adverse effect following the use of anti-thyroid drugs, and the few reported cases of ablation therapy with 131I at this age, makes this case unique.


Assuntos
Agranulocitose/induzido quimicamente , Antitireóideos/efeitos adversos , Carbimazol/efeitos adversos , Doença de Graves/radioterapia , Radioisótopos do Iodo/uso terapêutico , Agranulocitose/terapia , Antitireóideos/uso terapêutico , Transfusão de Sangue , Carbimazol/uso terapêutico , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Quimioterapia Combinada , Feminino , Doença de Graves/complicações , Doença de Graves/tratamento farmacológico , Humanos , Doença de Leigh/complicações , Síndrome Nefrótica/complicações , Propranolol/uso terapêutico , Esclerose/complicações
4.
Adv Nutr ; 7(2): 357-63, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26980819

RESUMO

Poor nutrition (substandard diet quantity and/or quality resulting in under- or overnutrition) and the lack of early learning opportunities contribute to the loss of developmental potential and life-long health and economic disparities among millions of children aged <5 y. Single-sector interventions representing either early child development (ECD) or nutrition have been linked to positive child development and/or nutritional status, and recommendations currently advocate for the development and testing of integrated interventions. We reviewed the theoretical and practical benefits and challenges of implementing integrated nutrition and ECD interventions along with the evidence for best practice and benefit-cost and concluded that the strong theoretical rationale for integration is more nuanced than the questions that the published empirical evidence have addressed. For example, further research is needed to 1) answer questions related to how integrated messaging influences caregiver characteristics such as well-being, knowledge, and behavior and how these influence early child nutrition and development outcomes; 2) understand population and nutritional contexts in which integrated interventions are beneficial; and 3) explore how varying implementation processes influence the efficacy, uptake, and cost-benefit of integrated nutrition and ECD interventions.


Assuntos
Desenvolvimento Infantil , Transtornos da Nutrição Infantil/prevenção & controle , Fenômenos Fisiológicos da Nutrição Infantil , Prestação Integrada de Cuidados de Saúde/métodos , Deficiências do Desenvolvimento/prevenção & controle , Medicina Baseada em Evidências , Transtornos da Nutrição Infantil/complicações , Transtornos da Nutrição Infantil/dietoterapia , Transtornos da Nutrição Infantil/economia , Pré-Escolar , Terapia Combinada/economia , Congressos como Assunto , Análise Custo-Benefício , Prestação Integrada de Cuidados de Saúde/economia , Países em Desenvolvimento , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/economia , Deficiências do Desenvolvimento/terapia , Saúde da Família , Saúde Holística , Humanos , Lactente , Deficiências da Aprendizagem/complicações , Deficiências da Aprendizagem/economia , Deficiências da Aprendizagem/prevenção & controle , Deficiências da Aprendizagem/terapia
5.
Neurology ; 85(17): 1512-21, 2015 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-26423430

RESUMO

Epilepsy is common in people with intellectual and developmental disabilities (IDD). In adulthood, patients with IDD and epilepsy (IDD-E) have neurologic, psychiatric, medical, and social challenges compounded by fragmented and limited care. With increasing neurologic disability, there is a higher frequency of epilepsy, especially symptomatic generalized and treatment-resistant epilepsies. The causes of IDD-E are increasingly recognized to be genetic based on chromosomal microarray analysis to identify copy number variants, gene panels (epilepsy, autism spectrum disorder, intellectual disability), and whole-exome sequencing. A specific genetic diagnosis may guide care by pointing to comorbid disorders and best therapy. Therapy to control seizures should be individualized, with drug selection based on seizure types, epilepsy syndrome, concomitant medications, and comorbid disorders. There are limited comparative antiepileptic drug data in the IDD-E population. Vagus nerve and responsive neural stimulation therapies and resective surgery should be considered. Among the many comorbid disorders that affect patients with IDD-E, psychiatric and sleep disorders are common but often unrecognized and typically not treated. Transition from holistic and coordinated pediatric to adult care is often a vulnerable period. Communication among adult health care providers is complex but essential to ensure best care when these patients are seen in outpatient, emergency room, and inpatient settings. We propose specific recommendations for minimum care standards for people with IDD-E.


Assuntos
Anticonvulsivantes/uso terapêutico , Deficiências do Desenvolvimento/complicações , Epilepsia/terapia , Deficiência Intelectual/complicações , Procedimentos Neurocirúrgicos , Estimulação do Nervo Vago , Adulto , Continuidade da Assistência ao Paciente , Epilepsia Resistente a Medicamentos/complicações , Epilepsia Resistente a Medicamentos/terapia , Epilepsia/complicações , Humanos , Transição para Assistência do Adulto/organização & administração
6.
J Int Neuropsychol Soc ; 21(6): 444-54, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26145730

RESUMO

The aim of this study was to compare sensory processing in typically developing children (TDC), children with Autism Spectrum Disorder (ASD), and those with sensory processing dysfunction (SPD) in the absence of an ASD. Performance-based measures of auditory and tactile processing were compared between male children ages 8-12 years assigned to an ASD (N=20), SPD (N=15), or TDC group (N=19). Both the SPD and ASD groups were impaired relative to the TDC group on a performance-based measure of tactile processing (right-handed graphesthesia). In contrast, only the ASD group showed significant impairment on an auditory processing index assessing dichotic listening, temporal patterning, and auditory discrimination. Furthermore, this impaired auditory processing was associated with parent-rated communication skills for both the ASD group and the combined study sample. No significant group differences were detected on measures of left-handed graphesthesia, tactile sensitivity, or form discrimination; however, more participants in the SPD group demonstrated a higher tactile detection threshold (60%) compared to the TDC (26.7%) and ASD groups (35%). This study provides support for use of performance-based measures in the assessment of children with ASD and SPD and highlights the need to better understand how sensory processing affects the higher order cognitive abilities associated with ASD, such as verbal and non-verbal communication, regardless of diagnostic classification.


Assuntos
Transtorno do Espectro Autista/complicações , Transtorno Autístico/complicações , Deficiências do Desenvolvimento/complicações , Transtornos da Percepção/etiologia , Transtornos de Sensação/etiologia , Tato/fisiologia , Estimulação Acústica , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Criança , Avaliação da Deficiência , Lateralidade Funcional , Humanos , Masculino , Testes Neuropsicológicos , Índice de Gravidade de Doença
7.
Nutrients ; 7(3): 1538-64, 2015 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-25734565

RESUMO

People with neurodevelopmental disorders and intellectual disabilities have much greater health care needs. Mainly staying indoors, such people generally have low 25-hydroxyvitamin D (25(OH)D) concentrations. The Vitamin D Task Force of the American Academy of Developmental Medicine and Dentistry (AADMD) reviewed the evidence of 25(OH)D concentrations that benefit the health of persons with developmental disabilities. Maintaining recommended optimal serum 25(OH)D concentrations year long will benefit skeletal development in infants, children, and adolescents, and benefit musculoskeletal health and neuromuscular coordination in adult patients, and decrease risk of falls. Maintaining optimal concentrations decreases risks and severities of autoimmune diseases, cardiovascular disease, many types of cancer, dementia, types 1 and 2 diabetes mellitus, and respiratory tract infections. Other benefits include improved dental and oral health and improved physical performance. The Task Force recommends that 25(OH)D concentrations for optimal health to be in the range of 75 to 125 nmol/L, which can be achieved using between 800 and 4000 IU/day vitamin D3 and sensible exposure to solar UVB radiation. The paper also discusses the potential risks of higher 25(OH)D concentrations, the evidence from and limitations of randomized controlled trials, and the recommendations by various groups and agencies.


Assuntos
Deficiências do Desenvolvimento , Saúde , Deficiência Intelectual , Deficiência de Vitamina D/tratamento farmacológico , Vitamina D/análogos & derivados , Vitamina D/uso terapêutico , Vitaminas/uso terapêutico , Deficiências do Desenvolvimento/sangue , Deficiências do Desenvolvimento/complicações , Suplementos Nutricionais , Humanos , Deficiência Intelectual/sangue , Deficiência Intelectual/complicações , Luz Solar , Vitamina D/sangue , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/complicações , Vitaminas/sangue
8.
Cochrane Database Syst Rev ; (10): CD010382, 2014 Oct 19.
Artigo em Inglês | MEDLINE | ID: mdl-25326792

RESUMO

BACKGROUND: Children with severe global developmental delay (SGDD) have significant intellectual disability and severe motor impairment; they are extremely limited in their functional movement and are dependent upon others for all activities of daily living. SGDD does not directly cause lung dysfunction, but the combination of immobility, weakness, skeletal deformity and parenchymal damage from aspiration can lead to significant prevalence of respiratory illness. Respiratory pathology is a significant cause of morbidity and mortality for children with SGDD; it can result in frequent hospital admissions and impacts upon quality of life. Although many treatment approaches are available, there currently exists no comprehensive review of the literature to inform best practice. A broad range of treatment options exist; to focus the scope of this review and allow in-depth analysis, we have excluded pharmaceutical interventions. OBJECTIVES: To assess the effects of non-pharmaceutical treatment modalities for the management of respiratory morbidity in children with severe global developmental delay. SEARCH METHODS: We conducted comprehensive searches of the following databases from inception to November 2013: the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, EMBASE, the Allied and Complementary Medicine Database (AMED) and the Cumulative Index to Nursing and Allied Health Literature (CINAHL). We searched the Web of Science and clinical trials registries for grey literature and for planned, ongoing and unpublished trials. We checked the reference lists of all primary included studies for additional relevant references. SELECTION CRITERIA: Randomised controlled trials, controlled trials and cohort studies of children up to 18 years of age with a diagnosis of severe neurological impairment and respiratory morbidity were included. Studies of airways clearance techniques, suction, assisted coughing, non-invasive ventilation, tracheostomy and postural management were eligible for inclusion. DATA COLLECTION AND ANALYSIS: We used standard methodological procedures as expected by The Cochrane Collaboration. As the result of heterogeneity, we could not perform meta-analysis. We have therefore presented our results using a narrative approach. MAIN RESULTS: Fifteen studies were included in the review. Studies included children with a range of severe neurological impairments in differing settings, for example, home and critical care. Several different treatment modalities were assessed, and a wide range of outcome measures were used. Most studies used a non-randomised design and included small sample groups. Only four randomised controlled trials were identified. Non-randomised design, lack of information about how participants were selected and who completed outcome measures and incomplete reporting led to high or unclear risk of bias in many studies. Results from low-quality studies suggest that use of non-invasive ventilation, mechanically assisted coughing, high-frequency chest wall oscillation (HFCWO), positive expiratory pressure and supportive seating may confer potential benefits. No serious adverse effects were reported for ventilatory support or airway clearance interventions other than one incident in a clinically unstable child following mechanically assisted coughing. Night-time positioning equipment and spinal bracing were shown to have a potentially negative effect for some participants. However, these findings must be considered as tentative and require testing in future randomised trials. AUTHORS' CONCLUSIONS: This review found no high-quality evidence for any single intervention for the management of respiratory morbidity in children with severe global developmental delay. Our search yielded data on a wide range of interventions of interest. Significant differences in study design and in outcome measures precluded the possibility of meta-analysis. No conclusions on efficacy or safety of interventions for respiratory morbidity in children with severe global developmental delay can be made based upon the findings of this review.A co-ordinated approach to future research is vital to ensure that high-quality evidence becomes available to guide treatment for this vulnerable patient group.


Assuntos
Deficiências do Desenvolvimento/complicações , Transtornos Respiratórios/terapia , Respiração Artificial/métodos , Oscilação da Parede Torácica , Criança , Humanos , Respiração com Pressão Positiva/métodos , Ensaios Clínicos Controlados Aleatórios como Assunto , Transtornos Respiratórios/etiologia
9.
Neurosci Biobehav Rev ; 46 Pt 2: 270-84, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24769289

RESUMO

Folate and choline, two nutrients involved in the one-carbon metabolic cycle, are intimately involved in regulating DNA integrity, synthesis, biogenic amine synthesis, and methylation. In this review, we discuss evidence that folate and choline play an important role in normal cognitive development, and that altered levels of these nutrients during periods of high neuronal proliferation and synaptogenesis can result in diminished cognitive function. We also discuss the use of these nutrients as therapeutic agents in a spectrum of developmental disorders in which intellectual disability is a prominent feature, such as in Fragile-X, Rett syndrome, Down syndrome, and Autism spectrum disorders. A survey of recent literature suggests that nutritional supplements have mild, but generally consistent, effects on improving cognition. Intervening with supplements earlier rather than later during development is more effective in improving cognitive outcomes. Given the mild improvements seen after treatments using nutrients alone, and the importance of the genetic profile of parents and offspring, we suggest that using nutraceutics early in development and in combination with other therapeutics are likely to have positive impacts on cognitive outcomes in a broad spectrum of complex neurodevelopmental disorders.


Assuntos
Carbono/metabolismo , Transtornos Cognitivos/dietoterapia , Transtornos Cognitivos/metabolismo , Deficiências do Desenvolvimento/dietoterapia , Deficiências do Desenvolvimento/metabolismo , Suplementos Nutricionais , Colina/metabolismo , Colina/uso terapêutico , Transtornos Cognitivos/complicações , Deficiências do Desenvolvimento/complicações , Ácido Fólico/metabolismo , Ácido Fólico/uso terapêutico , Humanos
10.
J Appl Res Intellect Disabil ; 27(2): 174-86, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23813562

RESUMO

BACKGROUND: Parents of children with developmental delays (DD) typically report elevated levels of parental stress compared with parents of typically developing children. Children with DD are also at high risk for exhibiting significant behaviour problems. Parental stress has been shown to impact the development of these behaviour problems; however, it is rarely addressed in interventions aimed at reducing child behaviour problems. The current study examined the efficacy of mindfulness-based stress reduction (MBSR) for parents of children with DD by investigating whether this intervention is effective in reducing parenting stress and whether decreases in parenting stress lead to reductions in behaviour problems among children with DD. MATERIALS AND METHODS: Forty six parents of children with DD were randomly assigned to an immediate treatment or wait list-control group. Participants completed questionnaires assessing parental stress and child behaviour problems at intake and at a second assessment, which took place after only the immediate treatment group had received the MBSR. RESULTS: Parents who participated in MBSR reported significantly less stress and depression as well as greater life satisfaction compared with wait list-control parents. Regarding child outcomes, children whose parents participated in MBSR were reported to have fewer behaviour problems following the intervention, specifically in the areas of attention problems and ADHD symptomatology. DISCUSSION: Results indicated that MBSR may be an effective intervention for ameliorating parental stress and mental health problems among parents of children with DD. Additionally, these benefits may 'spill over' and improve behaviour challenges among these children.


Assuntos
Adaptação Psicológica , Transtornos do Comportamento Infantil/prevenção & controle , Deficiências do Desenvolvimento/psicologia , Atenção Plena , Pais/psicologia , Estresse Psicológico/prevenção & controle , Adulto , Transtornos do Comportamento Infantil/complicações , Transtornos do Comportamento Infantil/psicologia , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Feminino , Humanos , Masculino , Poder Familiar/psicologia , Estresse Psicológico/etiologia , Inquéritos e Questionários , Resultado do Tratamento , Adulto Jovem
11.
Eur J Paediatr Neurol ; 17(4): 334-47, 2013 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-23558251

RESUMO

Childhood epilepsies comprise a heterogeneous group of disorders and syndromes that vary in terms of severity, prognosis and treatment requirements. Effective management requires early, accurate recognition and diagnosis, and a holistic approach that addresses each individual's medical and psychosocial needs within the context of their overall health status and quality of life. With increasing understanding of underlying aetiologies, new approaches to management and treatment are emerging. For example, genetic testing is beginning to provide a tool to aid differential diagnosis and a means of predicting predisposition to particular types of epilepsy. Despite the availability of an increasing number of antiepileptic drugs (AEDs)--due not only to the development of new AEDs, but also to changes in regulatory requirements that have facilitated clinical development--seizure control and tolerability continue to be suboptimal in many patients, and there is therefore a continuing need for new treatment strategies. Surgery and other non-pharmacological treatments (e.g. vagus nerve stimulation, ketogenic diet) are already relatively well established in paediatric epilepsy. New pharmacological treatments include generational advances on existing AEDs and AEDs with novel modes of action, and non-AED pharmacological interventions, such as immunomodulation. Emerging technologies include novel approaches allowing the delivery of medicinal agents to specific areas of the brain, and 'closed-loop' experimental devices employing algorithms that allow treatment (e.g., electrical stimulation) to be targeted both spatially and temporally. Although in early stages of development, cell-based approaches (e.g., focal targeting of adenosine augmentation) and gene therapy may also provide new treatment choices in the future.


Assuntos
Deficiências do Desenvolvimento/epidemiologia , Gerenciamento Clínico , Epilepsia/terapia , Criança , Deficiências do Desenvolvimento/complicações , Epilepsia/complicações , Epilepsia/diagnóstico , Humanos
12.
Mol Psychiatry ; 18(2): 141-53, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-22641181

RESUMO

The study of de novo point mutations (new germline mutations arising from the gametes of the parents) remained largely static until the arrival of next-generation sequencing technologies, which made both whole-exome sequencing (WES) and whole-genome sequencing (WGS) feasible in practical terms. Single nucleotide polymorphism genotyping arrays have been used to identify de novo copy-number variants in a number of common neurodevelopmental conditions such as schizophrenia and autism. By contrast, as point mutations and microlesions occurring de novo are refractory to analysis by these microarray-based methods, little was known about either their frequency or impact upon neurodevelopmental disease, until the advent of WES. De novo point mutations have recently been implicated in schizophrenia, autism and mental retardation through the WES of case-parent trios. Taken together, these findings strengthen the hypothesis that the occurrence of de novo mutations could account for the high prevalence of such diseases that are associated with a marked reduction in fecundity. De novo point mutations are also known to be responsible for many sporadic cases of rare dominant mendelian disorders such as Kabuki syndrome, Schinzel-Giedion syndrome and Bohring-Opitz syndrome. These disorders share a common feature in that they are all characterized by intellectual disability. In summary, recent WES studies of neurodevelopmental and neuropsychiatric disease have provided new insights into the role of de novo mutations in these disorders. Our knowledge of de novo mutations is likely to be further accelerated by WGS. However, the collection of case-parent trios will be a prerequisite for such studies. This review aims to discuss recent developments in the study of de novo mutations made possible by technological advances in DNA sequencing.


Assuntos
Deficiências do Desenvolvimento/genética , Transtornos Mentais/genética , Mutação , Deficiências do Desenvolvimento/complicações , Exoma/genética , Genótipo , Humanos , Transtornos Mentais/complicações , Análise de Sequência de DNA
14.
Klin Padiatr ; 224(7): 448-52, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23070864

RESUMO

Pediatric scurvy is a rare condition characterized by perifollicular petechiae and bruising, hemorrhagic gingivitis and musculoskeletal symptoms, all assumed to be predominantly related to abnormal collagen structure. We report on a 9-year-old autistic boy with vitamin C deficiency due to a highly limited food range presenting with multiple petechiae, gum bleeding and debilitating bone pain, in whom platelet aggregometry revealed a distinctly reduced thrombocyte aggregation, normalizing after vitamin C supplementation. This observation indicates that platelet dysfunction may additionally contribute to the hemorrhagic diathesis in scurvy, and demonstrates that ascorbic acid deficiency should be considered in children with an otherwise unexplained acquired thrombocytopathy.


Assuntos
Agregação Plaquetária/fisiologia , Escorbuto/sangue , Transtorno Autístico/sangue , Transtorno Autístico/complicações , Paralisia Cerebral/sangue , Paralisia Cerebral/complicações , Criança , Contusões/sangue , Contusões/etiologia , Deficiências do Desenvolvimento/sangue , Deficiências do Desenvolvimento/complicações , Diagnóstico Diferencial , Hemorragia Gengival/sangue , Hemorragia Gengival/etiologia , Hematoma/sangue , Hematoma/etiologia , Humanos , Masculino , Agregação Plaquetária/efeitos dos fármacos , Púrpura/sangue , Púrpura/etiologia , Escorbuto/diagnóstico , Escorbuto/tratamento farmacológico
16.
Harefuah ; 151(6): 327-9, 380, 2012 Jun.
Artigo em Hebraico | MEDLINE | ID: mdl-22991858

RESUMO

Scurvy is a disease that results from a vitamin C deficient diet. Since vitamin C is available in many food products, and especially in citrus fruits, the disease is rare in developed countries. Clinical manifestations of scurvy include general weakness, cutaneous and gum bleeding, pain in the lower limbs and inability to stand and walk (pseudo paralysis). The diagnosis of scurvy requires a high level of clinical suspicion, typical radiographic features and low Levels of vitamin C in the plasma. We report a case of a 7-year-old patient with a medical history of hydrocephalus, failure to thrive and severe psychomotor retardation due to complications of prematurity. On admission she had gum bleeding, severe anemia, pain in the lower limbs and refused to stand and walk. According to her parents, her diet was restricted, without vegetables or fruit consumption. Our investigation ruled out coagulopathy, malignancy and infection. Serum vitamin C levels were low and radiographic findings were consistent with the diagnosis of scurvy. The patient improved rapidly after the initiation of vitamin C supplements. Despite being rare, scurvy should be considered in the differential diagnosis of bleeding and pain in the lower limbs, especially in a malnourished patient.


Assuntos
Ácido Ascórbico , Transtornos da Nutrição Infantil , Citrus , Deficiências do Desenvolvimento/complicações , Fitoterapia , Escorbuto , Anemia/sangue , Anemia/etiologia , Anemia/fisiopatologia , Anemia/terapia , Ácido Ascórbico/administração & dosagem , Ácido Ascórbico/sangue , Transfusão de Sangue , Criança , Transtornos da Nutrição Infantil/complicações , Transtornos da Nutrição Infantil/metabolismo , Transtornos da Nutrição Infantil/psicologia , Nutrição Enteral , Insuficiência de Crescimento/etiologia , Insuficiência de Crescimento/fisiopatologia , Insuficiência de Crescimento/terapia , Comportamento Alimentar/psicologia , Feminino , Hemorragia Gengival/etiologia , Humanos , Infusões Intravenosas , Limitação da Mobilidade , Dor Musculoesquelética/diagnóstico por imagem , Dor Musculoesquelética/etiologia , Radiografia , Escorbuto/sangue , Escorbuto/etiologia , Escorbuto/patologia , Escorbuto/fisiopatologia , Escorbuto/terapia , Resultado do Tratamento
17.
J Pediatr Surg ; 47(8): 1572-5, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22901919

RESUMO

BACKGROUND: Proximal large bowel volvulus is considered as an extremely rare surgical emergency in children. Approximately 40 cases have been reported, and because of its rarity, the diagnosis is often missed or delayed. The purpose of this study was to review the presentation, treatment, and clinical outcome of proximal large bowel volvulus. METHODS: A systematic review and analysis of the data relating to 6 patients from the author's practice and cases published in the English literature from 1965 to 2010 was performed. Detailed information regarding demographics, clinical presentation and methods of diagnosis, surgical procedure, complications, and outcome were recorded. RESULTS: Thirty-six cases of proximal large bowel volvulus were retrieved from the English literature, and 6 cases, from the author's practice. The male-female ratio was 1:1, with a median age of 10 years. There were 29 (69%) cases with neurodevelopmental delay. Clinical presentation included 29 (69%) cases with constipation, 41 (98%) with colicky abdominal pain, 42 (100%) with abdominal distension, and 35 (83%) with vomiting. Plain radiography was specific in 64% (27/42) of cases, barium enema in 100% (15/15), and computed tomography in 100% (2/2). All patients underwent surgery, with resection and primary anastomosis in 24 (57%) cases, stoma formation in 11 (26%), and detorsion of volvulus without resection in 7 (17%) cases. Six patients (14%) died postoperatively. CONCLUSION: A child with neurodevelopmental delay and a history of constipation presenting with an acute onset of colicky abdominal pain and progressive abdominal distension with vomiting should be suspected of having a cecal and proximal large bowel volvulus.


Assuntos
Doenças do Colo/epidemiologia , Volvo Intestinal/epidemiologia , Dor Abdominal/etiologia , Adolescente , Anastomose Cirúrgica , Bário , Doenças do Ceco/complicações , Doenças do Ceco/diagnóstico , Doenças do Ceco/diagnóstico por imagem , Doenças do Ceco/epidemiologia , Doenças do Ceco/cirurgia , Criança , Pré-Escolar , Doenças do Colo/complicações , Doenças do Colo/diagnóstico , Doenças do Colo/diagnóstico por imagem , Doenças do Colo/cirurgia , Colostomia , Constipação Intestinal/etiologia , Deficiências do Desenvolvimento/complicações , Emergências , Feminino , Humanos , Doenças do Íleo/diagnóstico , Doenças do Íleo/epidemiologia , Doenças do Íleo/cirurgia , Volvo Intestinal/complicações , Volvo Intestinal/diagnóstico , Volvo Intestinal/diagnóstico por imagem , Volvo Intestinal/cirurgia , Masculino , Complicações Pós-Operatórias/mortalidade , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Vômito/etiologia
19.
Rev. logop. foniatr. audiol. (Ed. impr.) ; 29(4): 262-270, oct.-dic. 2009.
Artigo em Espanhol | IBECS | ID: ibc-75197

RESUMO

Se presenta a continuación la intervención logopédica realizada durante 2 años en un caso de síndrome de Cornelia de Lange (SCdL). El SCdL es una enfermedad rara, caracterizada por retraso pre y posnatal del crecimiento; presenta rasgos faciales característicos, malformaciones musculo esqueléticas en manos, pies, brazos y piernas y otras malformaciones físicas. Los niños afectados pueden presentar también retraso psicomotor (retrasos en la adquisición de las habilidades de la coordinación y de la actividad mental y muscular) y retraso mental de leve a severo. El rango y la severidad de los síntomas pueden variar de unos casos a otros. La mayor parte de la bibliografía acerca del síndrome hace referencia a las características físicas y a los síntomas, pero rara vez encontramos información que pueda orientar a los que nos dedicamos a la intervención para aplicar un programa de tratamiento. Esta escasez bibliográfica es lo que nos ha llevado a plantear el interés que podría suponer el hecho de presentar la intervención en un caso de estas características. A continuación se expone la descripción clínica del caso, la evaluación realizada y la intervención en las áreas de terapia miofuncional, comunicación y lenguaje. Se finaliza con la exposición de los resultados obtenidos en estas áreas de intervención y las conclusiones (AU)


The following case study reveals a speech therapy intervention carried out for two years in a particular case of Cornelia de Lange Syndrome (CdLS). CdLS is a rare genetic disorder characterised by a delay in pre and postnatal child development. It shows distinctive facial features and muscular anomalies – bones mutations in hands, feet, arms, legs and other physical abnormalities. The children affected may also display delayed psychomotor development (delay in the acquisition of abilities related to coordination, intellectual and muscular development) and -low to severe-mental impairment. The range and severity of symptoms may vary depending on each case. Most of the existing bibliography makes reference to the physical characteristics and symptoms, being barely information that supports the intervention of professionals applying treatment programs. This particular academic context has leaded us to focus our interest in exposing the intervention in a case of such characteristics. This is an extended case study about the clinic description of the case, evaluation and types of intervention in areas of my functional therapy, communication and language. We will finalize by exposing the results obtained in these areas of intervention, and bringing our own conclusion (AU)


Assuntos
Humanos , Feminino , Criança , Síndrome de Cornélia de Lange/complicações , Síndrome de Cornélia de Lange/diagnóstico , Síndrome de Cornélia de Lange/psicologia , Deficiências do Desenvolvimento/complicações , Transtornos do Desenvolvimento da Linguagem/complicações , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Terapia Miofuncional/métodos , Terapia Miofuncional , Anormalidades Musculoesqueléticas/complicações , Desempenho Psicomotor/fisiologia , Deficiência Intelectual/complicações , Terapia Miofuncional/psicologia , Terapia Miofuncional/tendências
20.
J Autism Dev Disord ; 39(8): 1218-21, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19291378

RESUMO

The purpose of this study was to examine the effects of wearing a pressure vest for a young boy with developmental delays. An A-B-A withdrawal design was used to examine the relation between wearing the pressure vest and child behaviors during a preschool art activity. Although the data showed moderate variability, no systematic differences were found in child engagement when the vest was worn and when the vest was not worn and problem behavior increased when the vest was being worn. These results are discussed in the context of the study limitations. Implications for future research are provided.


Assuntos
Transtornos do Comportamento Infantil/complicações , Vestuário , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/terapia , Pressão , Terapias Sensoriais através das Artes , Pré-Escolar , Humanos , Masculino , Pessoa de Meia-Idade , Gravação de Videoteipe
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