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1.
Medicine (Baltimore) ; 100(12): e25277, 2021 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-33761731

RESUMO

ABSTRACT: Drug-resistant epilepsy (DRE) affects 7% to 20% of children with epilepsy. Although some risk factors for DRE have been identified, the results have not been consistent. Moreover, data regarding the risk factors for epilepsy and its seizure outcome in the first 2 years of life are limited.We analyzed data for children aged 0 to 2 years with epilepsy and neurodevelopmental disability from January, 2013, through December, 2017. These patients were followed up to compare the risk of DRE in patients with genetic defect (genetic group) with that without genetic defect (nongenetic group). Additionally, we conducted a meta-analysis to identify the pooled prevalence of genetic factors in children with DRE.A total of 96 patients were enrolled. A total of 68 patients were enrolled in the nongenetic group, whereas 28 patients were enrolled in the genetic group. The overall DRE risk in the genetic group was 6.5 times (95% confidence interval [CI], 2.15-19.6; p = 0.03) higher than that in the nongenetic group. Separately, a total of 1308 DRE patients were participated in the meta-analysis. The pooled prevalence of these patients with genetic factors was 22.8% (95% CI 17.4-29.3).The genetic defect plays a crucial role in the development of DRE in younger children with epilepsy and neurodevelopmental disability. The results can serve as a reference for further studies of epilepsy panel design and may also assist in the development of improved treatments and prevention strategies for DRE.


Assuntos
Aberrações Cromossômicas/estatística & dados numéricos , Deficiências do Desenvolvimento , Epilepsia Resistente a Medicamentos , Doenças Genéticas Inatas , Medição de Risco/métodos , China/epidemiologia , Correlação de Dados , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Epilepsia Resistente a Medicamentos/diagnóstico , Epilepsia Resistente a Medicamentos/epidemiologia , Epilepsia Resistente a Medicamentos/genética , Feminino , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/epidemiologia , Humanos , Lactente , Recém-Nascido , Masculino , Mutação , Canal de Sódio Disparado por Voltagem NAV1.1/genética , Canal de Sódio Disparado por Voltagem NAV1.6/genética , Prevalência , Estudos Prospectivos , Fatores de Risco , Proteína 2 do Complexo Esclerose Tuberosa/genética
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(3): 228-231, 2021 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-33751530

RESUMO

OBJECTIVE: To assess the value of copy number variations (CNVs) and chromosomal karyotyping analysis for patients with intellectual disability/developmental delay (ID/DD). METHODS: Chromosomal karyotype analysis was applied to 530 children diagnosed with ID/DD. Single nucleotide polymorphism array (SNP-array) was further applied for 120 children with unknown etiology. RESULTS: Among the 530 children with ID/DD, 104 (19.62%) were detected with chromosomal abnormalities. For the 120 children analyzed by SNP-array, 44 (36.67%) were detected with CNVs, among which 20 were predicted as pathogenic, 6 as likely pathogenic, 10 as variants of unknown significance, 7 as likely benign,and 1 as loss of heterozygosity. CONCLUSION: SNP-array can facilitate delineation of the etiology of patients with ID/DD, which may provide a basis for their prognosis, consultation and clinical intervention.


Assuntos
Variações do Número de Cópias de DNA , Deficiências do Desenvolvimento , Deficiência Intelectual , Criança , Aberrações Cromossômicas , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Cariotipagem
3.
Medicine (Baltimore) ; 100(13): e25407, 2021 Apr 02.
Artigo em Inglês | MEDLINE | ID: mdl-33787650

RESUMO

ABSTRACT: The Griffiths Mental Development Scale-Chinese (GDS-C) is used in China to assess the development of children from birth to 8 years of age. Language disorders are a common symptom of autism spectrum disorder (ASD) and global developmental delay (GDD)/intellectual disability (ID). There is a need to identify distinct clinical characteristics in children suspected of having these 2 disorders, mainly presenting as language disorders. Here, we aimed to use the GDS-C to evaluate children presenting with language problems to identify characteristics that distinguish ASD and GDD/ID. Children with language problems were recruited between August 2018 and December 2019. A total of 150 children aged 25 to 95.2 months were enrolled (50 in the ASD group, 50 in the GDD/ID group, and 50 in the typical group). Each group was subdivided by age as follows: 24-36 months, >36-60 months, and >60-96 months. Developmental characteristics assessed using the GDS-C were analyzed and compared. Both, children with ASD and GDD/ID presented with a lower developmental level than typical children in all six subscales of the GDS-C. No significant differences were observed in the six subscale scores between the ASD and GDD/ID groups, except for the practical reasoning subscale score in the >36 to 60 months subgroups, which was significantly lower in the GDD/ID group than in the ASD group. The developmental imbalance of subscales within the ASD and GDD/ID groups identified troughs in the personal-social, language, and practical reasoning areas in children with ASD and in the language and practical reasoning areas in children with GDD/ID relative to typical children. The GDS-C is a useful, comprehensive tool for the assessment of the developmental state of children with ASD and GDD/ID. Characteristics of practical reasoning subscale help diagnose autism in >36 to 60 months old children.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Deficiência Intelectual/diagnóstico , Transtornos da Linguagem/diagnóstico , Testes Neuropsicológicos , Transtorno do Espectro Autista/complicações , Criança , Desenvolvimento Infantil , Pré-Escolar , China , Deficiências do Desenvolvimento/complicações , Diagnóstico Diferencial , Estudos de Viabilidade , Feminino , Humanos , Deficiência Intelectual/complicações , Transtornos da Linguagem/etiologia , Masculino , Traduções
4.
Occup Ther Int ; 2021: 6658786, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33688309

RESUMO

Background: Sensory processing supports children's development and abilities to participate in activities across contexts. Self-regulation skills may influence how children process various sensory experiences in daily life activities. The Sensory Processing and Self-Regulation Checklist (SPSRC) is a 130-item caregiver-reported checklist, covering children's essential sensory processing and self-regulation performance in daily activities. Objectives: This study examines the psychometric properties of the SPSRC (English version) in measuring the sensory processing and self-regulation abilities of children. Methods: A preliminary field testing of the SPSRC-English was conducted in a sample of n = 194 children (164 without disability and 30 with a disability) to evaluate its reliability and validity properties. Results: The SPSRC-English was shown to have high internal consistency and test-retest reliability; and good discriminant, structural, and criterion validity in the sensory processing and self-regulation abilities of children with and without disability ages 4-12 years. Conclusion: The current study provides initial evidence on the reliability and validity of SPSRC-English in measuring the sensory processing and self-regulation abilities in children with and without a disability. The SPSRC-English may provide salient information supporting the understanding of sensory processing difficulties among children.


Assuntos
Transtorno do Espectro Autista/diagnóstico , Lista de Checagem/normas , Deficiências do Desenvolvimento/diagnóstico , Psicometria/estatística & dados numéricos , Autocontrole , Inquéritos e Questionários/normas , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Percepção , Reprodutibilidade dos Testes
5.
Medicine (Baltimore) ; 100(1): e24224, 2021 Jan 08.
Artigo em Inglês | MEDLINE | ID: mdl-33429816

RESUMO

RATIONALE: Chromosomal 3q deletion is a recurrent genomic alternation, which is rarely reported in clinic. PATIENT CONCERNS: A 27-year-old woman underwent amniocentesis for cytogenetic analysis and single nucleotide polymorphism (SNP) array analysis at 27 weeks of gestation, due to ventricular septum defect in prenatal ultrasound findings. DIAGNOSES: G-banding analysis showed the karyotype of the fetus was normal and the couple also had normal karyotypes. However, SNP array detected a 1.71 Mb microdelection in 3q29, which was described as arr[hg19]3q29(194184392-195887205) × 1. There are 12 genes located in this locus. INTERVENTIONS: The couple refused SNP array to testify the 3q29 microdeletion was inherited or de novo and they chose termination of pregnancy. OUTCOMES: The deleted region in the fetus overlapped with part 3q29 microdeletion syndrome, which was characterized by learning disability, speech delay, mental deficiency, ocular abnormalities and craniofacial features. In addition, no similar/overlapping 3q29 microdeletion cases were reported according to the published literature and database. LESSONS: For the chromosomal microscopic imbalances partially overlapping with the defined pathogenic syndrome, deleted/duplicated size, genetic materials and phenotypic diversity should be taken into consideration when genetic counseling is offered by the clinicians.


Assuntos
Comunicação Interventricular/diagnóstico por imagem , Deficiência Intelectual/diagnóstico , Ultrassonografia Pré-Natal , Adulto , Amniocentese , Deleção Cromossômica , Cromossomos Humanos Par 3/genética , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Diagnóstico Diferencial , Feminino , Aconselhamento Genético , Cardiopatias Congênitas , Comunicação Interventricular/genética , Humanos , Deficiência Intelectual/genética , Gravidez , Segundo Trimestre da Gravidez
8.
J Dev Behav Pediatr ; 42(4): 314-321, 2021 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-33350655

RESUMO

OBJECTIVE: This study aims to describe the use of telehealth in developmental behavioral pediatric (DBP) fellowship-affiliated practices during the coronavirus disease 2019 (COVID-19) global pandemic. METHODS: An electronic survey was disseminated to all DBP fellowship-associated practice locations to determine the use of telehealth in DBP care provision, before and since the beginning of the COVID-19 pandemic. We analyzed responses using descriptive statistics. RESULTS: A total of 35 of 42 eligible practice sites responded (83% response rate). Most sites (51.4%) reported using telehealth less than once per month before the COVID-19 pandemic. Since the onset of COVID-19, 100% of programs reported conducting video-based telehealth visits multiple days per week. Most sites reported conducting evaluations and follow-up visits for attention-deficit/hyperactivity disorder, autism spectrum disorder, behavioral concerns, developmental delay, genetic disorders, and learning disability. Most sites were able to continue medication management by telehealth (>88%), offer interpreter services for families with limited English proficiency participating in telehealth visits (>90%), and incorporate trainees and interdisciplinary team members in telehealth visits (>90%). Greater variability was observed in sites' ability to collect telehealth practice evaluation measures. CONCLUSION: Most sites are providing evaluations and ongoing care for DBP conditions through telehealth. The rapid adoption of telehealth can have ramifications for the way that DBP care is delivered in the future; therefore, it is imperative to understand current practice patterns and variations to determine the best use of telehealth.


Assuntos
/epidemiologia , Bolsas de Estudo/métodos , Pediatria/métodos , Telemedicina , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/diagnóstico , Criança , Desenvolvimento Infantil , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Deficiências do Desenvolvimento/diagnóstico , Humanos , Pediatria/educação , Telemedicina/métodos
9.
J Pediatr ; 231: 61-67.e2, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33340547

RESUMO

OBJECTIVE: To examine the stability of developmental coordination disorder (DCD) throughout childhood in children born very preterm and term. Further, in the very preterm group, to compare perinatal variables and neurobehavioral outcomes at 13 years of age for children with persisting DCD and those with typical motor development. STUDY DESIGN: Prospective study of 180 very preterm and 73 term-born children assessed at 5, 7, and/or 13 years of age using the Movement Assessment Battery for Children, with scores ≤16th percentile used to classify DCD. Children with cerebral palsy or an IQ of <80 were excluded. RESULTS: Children born very preterm had increased odds for DCD at 5 (OR, 5.53; 95% CI, 2.53-12.0; P < .001), 7 (OR, 3.63; 95% CI, 1.43-9.18; P = .06), and 13 years (OR, 4.34; 95% CI, 1.61-11.7; P = .004) compared with term-born children. The rates of DCD in very preterm children reduced from 47.9% at 5 years of age, to 28.5% at 7 years and 27.8% at 13 years of age (OR per year of age, 0.81; 95% CI, 0.75-0.87; P < .001), but less so for term-born children (15.3%, 10.0%, and 8.5% at 5, 7, and 13-years respectively [OR, 0.91; 95% CI, 0.75-1.09; P = .31]). Within the very preterm group at 13 years of age, there was evidence that children with persisting DCD performed poorer across several cognitive domains compared with children with typical motor development, with differences in the order of 0.5-1.0 SD. CONCLUSIONS: Although the rates of DCD decreased across middle childhood for both groups, the odds for DCD were consistently higher for very preterm children compared with term, with important implications for cognitive functioning in the very preterm group.


Assuntos
Deficiências do Desenvolvimento/epidemiologia , Lactente Extremamente Prematuro , Doenças do Prematuro/epidemiologia , Transtornos das Habilidades Motoras/epidemiologia , Adolescente , Fatores Etários , Estudos de Casos e Controles , Criança , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Prematuro/diagnóstico , Doenças do Prematuro/etiologia , Estudos Longitudinais , Masculino , Transtornos das Habilidades Motoras/diagnóstico , Transtornos das Habilidades Motoras/etiologia , Testes Neuropsicológicos , Estudos Prospectivos , Análise de Regressão , Fatores de Risco , Vitória/epidemiologia
10.
Medicine (Baltimore) ; 99(51): e23864, 2020 Dec 18.
Artigo em Inglês | MEDLINE | ID: mdl-33371171

RESUMO

ABSTRACT: Schaaf-Yang syndrome (SYS) is a recently identified disorder caused by a loss-of-function mutation in a maternally imprinted gene, MAGEL2, at 15q11.2q13. Due to its extreme rarity and wide range of clinical severity, clinical suspicion is difficult for a physician. In the current study, its frequency among the Korean pediatric patients with developmental delay (DD) or intellectual disability (ID) was assessed. As the first report of Korean patients with SYS, our study aims to increase the awareness of this condition among the physicians taking care of the pediatric patients with DD/ID and hypotonia.The patients diagnosed with SYS by whole-exome sequencing (WES) among the 460 Korean pediatric patients with DD/ID were included, and their clinical and molecular features were reviewed.Four patients (0.9%) were diagnosed with SYS. Profound DD (4 patients), multiple anomalies including joint contractures and facial dysmorphism (4 patients), generalized hypotonia (3 patients), and severe respiratory difficulty requiring mechanical ventilation (3 patients) were noted in most cases, similar to those in previous reports. Sleep apnea (2 patients), autistic features (2 patients), a high grade of gastroesophageal reflux (1 patient), and seizures (1 patient) were found as well. A total of 3 different truncating MAGEL2 mutations were identified. A previously-reported mutation, to be the most common one, c.1996dupC, was found in 2 patients. The other 2 mutations, c.2217delC and c.3449_3450delTT were novel mutations. As MAGEL2 is maternally imprinted, 2 patients had inherited the MAGEL2 mutation from their respective healthy fathers.SYS is an extremely rare cause of DD/ID. However, hypotonia, joint contractures, profound DD/ID and facial dysmorphism are the suggestive clinical features for SYS. As a maternally imprinted disorder, it should be reminded that SYS may be inherited in form of a mutation from a healthy father.


Assuntos
Síndrome de Prader-Willi/diagnóstico , Proteínas/análise , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Lactente , Masculino , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Síndrome de Prader-Willi/genética , Proteínas/genética , República da Coreia , Sequenciamento Completo do Exoma/métodos
11.
Artigo em Russo | MEDLINE | ID: mdl-33338354

RESUMO

The comprehensive diagnosis of abnormalities of development of children during the first years of life is one of the most important targets and the first stage of system of early medical care based on the intersectoral interaction of the experts. The health care facilities play paramount role in identifying children at risk, including ones born with signs of perinatal damage of central nervous system. The article presents results of the experimental study of efficiency of common diagnostic methods of development of children during the first years of life in conditions of polyclinic services. The article also proves the necessity of complementing actual diagnostic instruments by new methods of diagnostic based on complex evaluation of main parameters of psychomotor development of children that will result in timely diagnostic and inclusion of children of risk group to the system of early medical care.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Criança , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Fatores de Risco
12.
Rev Med Liege ; 75(10): 686-691, 2020 Oct.
Artigo em Francês | MEDLINE | ID: mdl-33030847

RESUMO

Global developmental delay (GDD) and intellectual development disorder (IDD) are common but heterogeneous pediatric conditions. Guided by a rigorous clinical and anamnestic examination, the diagnostic approach is a dynamic process which is not limited to the intelligence quotient measurement. A large panel of paraclinical tests allows etiological exploration; this generally includes biological, genetic, metabolic and iconographic examinations. To maximize therapeutic efficiency and standardize practices, this document provides a guideline for the management of pediatric GDD/IDD.


Assuntos
Deficiências do Desenvolvimento , Deficiência Intelectual , Criança , Cognição , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Família , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/etiologia
14.
An. psicol ; 36(2): 271-282, mayo 2020. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-192064

RESUMO

Un número considerable de estudiantes presenta dificultades de aprendizaje y bajo rendimiento académico, sin embargo su evaluación no siempre deriva en un diagnóstico concreto. Son categorizados como inmaduros, pero no se determinan ni la naturaleza ni las características de sus dificultades. El objetivo fue identificar los dominios evolutivos afectados en niños con retraso del desarrollo (RD) y valorar el concepto de dificultades neuroevolutivas como constructo comprensivo de las dificultades generalizadas de aprendizaje. Para ello, se realizó una revisión sistemática en las bases electrónicas Medline, PsycINFO, WOS, Eric, Dialnet y CSIC y, tras aplicar los criterios de inclusión, se seleccionaron 18 artículos. Los resultados confirman que RD se utiliza como etiqueta diagnóstica para caracterizar a niños con retrasos significativos en uno o varios ámbitos del desarrollo, pero no existe una definición de consenso ni criterios específicos para su diagnóstico, y solo sería de aplicación a niños de corta edad. Los dominios afectados coinciden con funciones neuroevolutivas y, en su etiología, destacan factores de riesgo biológico y ambiental. Se constata la persistencia en la niñez de las dificultades neuroevolutivas y su asociación con las dificultades generalizas en el aprendizaje de años escolares, apuntando a las primeras como constructo explicativo de las segundas


A considerable number of students have learning difficulties and low academic performance, yet their evaluation does not always lead to a concrete diagnosis. They are categorized as immature, but neither the nature nor the characteristics of their difficulties are determined. The aim of this study was to identify the developmental domains which are affected in children with developmental delay (DD) in order to assess the concept of neurodevelopmental difficulties as a comprehensive category and profile of generalized learning difficulties. To this end, a systematic review was carried out on the electronic databases Medline, PsycINFO, WOS, Eric, Dialnet and CSIC and, after applying the inclusion criteria, 18 articles were selected. The results confirm that DD is used as a diagnostic label to characterize children with significant delays in one or more developmental domains, but there is no definition of consensus nor specific criteria for its diagnosis, and it would only be applicable to young children. The affected domains coincide with neurodevelopmental functions, and biological and environmental risk factors stand out in their aetiology. Neurodevelopmental difficulties would encompass a wide spectrum of deficits with different levels of severity that, on interacting with each other, give rise to a variety of profiles


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Deficiências do Desenvolvimento/diagnóstico , Deficiências da Aprendizagem/psicologia , Transtornos Neurocognitivos/psicologia , Baixo Rendimento Escolar , Deficiências do Desenvolvimento/psicologia , Testes Neuropsicológicos , Fatores de Risco , Desenvolvimento Infantil/fisiologia
15.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(8): 851-854, 2020 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-32761593

RESUMO

OBJECTIVE: To explore the genetic basis for a child with global developmental delay and neurofibromatosis type 1 (NF1). METHODS: The patient underwent clinical examination. Whole exome sequencing (WES) was carried out to detect pathogenic genetic variants. RESULTS: The child had cafe au lait spots all over her body, pigmentation in the back, and global developmental delay as assessed by Gese II. Cranial MRI revealed globular abnormal density in the lower hemisphere of left posterior cranial fossa. WES detected a novel variant of the NF1 gene, c.6513-6515del (p.Tyr2171), which was strongly correlated with her clinical phenotype. The same variant was not found in either parent and was unreported previously. CONCLUSION: The c.3842T>G variant of the NF1 gene probably underlay the NF1 and global developmental delay in this child, for whom prompt symptomatic treatment and regular follow-up were recommended.


Assuntos
Deficiências do Desenvolvimento , Genes da Neurofibromatose 1 , Testes Genéticos , Neurofibromatose 1 , Manchas Café com Leite/diagnóstico , Manchas Café com Leite/genética , Criança , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Fenótipo
16.
Gene ; 761: 145027, 2020 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-32758583

RESUMO

OBJECTIVES: Oliver-McFarlane syndrome (OMCS) is an autosomal recessive inherited disease resulting from PNPLA6 mutations that results in intellectual impairment and profound short stature. To obtain a better understanding of the genotype-phenotype correlations for PNPLA6-related disorders, we reported the 14th OMCS case and summarized all the reported cases of OMCS. METHODS: We collected clinical biochemical and data and brain MRI data and used whole-exon gene detection and analysis tools to evaluate the pathogenicity of the variants, including PolyPhen-2 and Mutation Taster, and we also generated three-dimensional protein structures and visualized the effects of altered residues with I-TASSER and PyMOL Viewer software. RESULTS: The patient presented with trichomegaly and multiple pituitary hormone deficiencies. Brain MRI showed small pituitary and bilateral paraventricular leukomalacia. Novel variants (c.1491G > T and c.3367G > A) in the PNPLA6 gene were detected in the proband and verified by direct sequencing. Amino acid residues of Gln497 and Gly1123 are predicted to be damaging and destroy the three-dimensional protein structures of the protein. In follow-up, this patient could neither walk nor hold his head erect and had not spoken one word at the age of one year and ten months. Moreover, there is no obvious hot spot mutation in any of the reported allelic variants. Interestingly, the majority of mutations are located in the phospholipid esterase domain, which is responsible for esterase activity. CONCLUSIONS: We identified two novel variants of the PNPLA6 gene in an OMCS patient, which will help to better understand the function of PNPLA6 and genotype-phenotype correlations for PNPLA6-related disorders.


Assuntos
Blefaroptose/diagnóstico , Blefaroptose/genética , Nanismo/diagnóstico , Nanismo/genética , Hipertricose/diagnóstico , Hipertricose/genética , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Fosfolipases/genética , Retinite Pigmentosa/diagnóstico , Retinite Pigmentosa/genética , Alelos , China , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Frequência do Gene/genética , Estudos de Associação Genética , Genótipo , Humanos , Lactente , Masculino , Mutação , Fenótipo , Fosfolipases/metabolismo
17.
PLoS One ; 15(7): e0235311, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32628734

RESUMO

OBJECTIVE: This study aimed to define the prevalence and predictors of non-right-handedness and its link to long-term neurodevelopmental outcome and early neuroimaging in a cohort of children born extremely preterm (<28 weeks gestation). METHODS: 179 children born extremely preterm admitted to the Neonatal Intensive Care Unit of our tertiary centre from 2006-2013 were included in a prospective longitudinal cohort study. Collected data included perinatal data, demographic characteristics, neurodevelopmental outcome measured by the Bayley Scales of Infant and Toddler Development at 2 years and the Movement Assessment Battery for Children at 5 years, and handedness measured at school age (4-8 years). Magnetic resonance imaging performed at term-equivalent age was used to study overt brain injury. Diffusion tensor imaging scans were analysed using tract-based spatial statistics to assess white matter microstructure in relation to handedness and neurodevelopmental outcome. RESULTS: The prevalence of non-right-handedness in our cohort was 22.9%, compared to 12% in the general population. Weaker fine motor skills at 2 years and paternal non-right-handedness were significantly associated with non-right-handedness. Both overt brain injury and fractional anisotropy of white matter structures on diffusion tensor images were not related to handedness. Fractional anisotropy measurements showed significant associations with neurodevelopmental outcome. CONCLUSIONS: Our data show that non-right-handedness in children born extremely preterm occurs almost twice as frequently as in the general population. In the studied population, non-right-handedness is associated with weaker fine motor skills and paternal non-right-handedness, but not with overt brain injury or microstructural brain development on early magnetic resonance imaging.


Assuntos
Encéfalo/crescimento & desenvolvimento , Desenvolvimento Infantil/fisiologia , Imagem de Tensor de Difusão/estatística & dados numéricos , Lateralidade Funcional/fisiologia , Lactente Extremamente Prematuro/crescimento & desenvolvimento , Encéfalo/diagnóstico por imagem , Encéfalo/fisiologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/epidemiologia , Feminino , Humanos , Recém-Nascido , Estudos Longitudinais , Masculino , Estudos Prospectivos
18.
J Sports Sci ; 38(15): 1717-1798, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32608334

RESUMO

Valid and reliable tests of motor competence are necessary to allow researchers and practitioners to quantify levels of motor competence, identify skill deficiencies, and determine the effectiveness of motor skill interventions. The primary study aim was to systematically review the validity and reliability of scores derived from gross motor competence tests for typically developing child and adolescent populations. The secondary aim of this review was to identify the most prevalent motor skills assessed across all instruments. A search of seven electronic databases identified 57 different skill assessment tools from 107 studies. Construct validity was the most common measurement property examined (60 studies; 56%). Content validity (21 studies; 20%) was the least commonly explored measurement property. Scores derived from the Test of Gross Motor Development - second and third edition had the most support for validity and reliability. The most common skills included in these skill batteries were the overhand throw (n = 33), catch (n = 32), jump (n = 31) and hop (n = 26). Research efforts should focus on: (1) further investigation of measurement properties of existing tools rather than developing new assessments and (2) further investigation of existing tools and their measurement properties in adolescent populations.


Assuntos
Destreza Motora , Testes Neuropsicológicos , Adolescente , Criança , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Humanos , Reprodutibilidade dos Testes
19.
Artigo em Alemão | MEDLINE | ID: mdl-32572501

RESUMO

Children with motor development disorders benefit greatly from early interventions. An early diagnosis in pediatric preventive care (U2-U5) can be improved by automated screening. Current approaches to automated motion analysis, however, are expensive, require lots of technical support, and cannot be used in broad clinical application. Here we present an inexpensive, marker-free video analysis tool (KineMAT) for infants, which digitizes 3­D movements of the entire body over time allowing automated analysis in the future.Three-minute video sequences of spontaneously moving infants were recorded with a commercially available depth-imaging camera and aligned with a virtual infant body model (SMIL model). The virtual image generated allows any measurements to be carried out in 3­D with high precision. We demonstrate seven infants with different diagnoses. A selection of possible movement parameters was quantified and aligned with diagnosis-specific movement characteristics.KineMAT and the SMIL model allow reliable, three-dimensional measurements of spontaneous activity in infants with a very low error rate. Based on machine-learning algorithms, KineMAT can be trained to automatically recognize pathological spontaneous motor skills. It is inexpensive and easy to use and can be developed into a screening tool for preventive care for children.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Movimento , Algoritmos , Criança , Diagnóstico Precoce , Alemanha , Humanos , Lactente
20.
J Clin Nurs ; 29(17-18): 3373-3381, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32498120

RESUMO

AIMS AND OBJECTIVES: To report the views and experiences of fathers following their child's diagnosis of an intellectual and developmental disability (IDD). BACKGROUND: There is a growing interest in understanding the experiences of fathers of children with IDD given the transformation of the structural change of fathers' roles within the family and wider society. DESIGN: A qualitative design was used to elicit the view and experiences of fathers. METHODS: A total of ten Irish fathers participated in face-to-face interviews. The data were thematically analysed. The COREQ guidelines for reporting qualitative studies were used in the development of this paper. RESULTS: The key themes that emerged were (a) the confirmation of the child's diagnosis (b) the impact of the diagnosis and (c) father's motivation to participate in disability research. CONCLUSIONS: This study informs and develops a further understanding of the international evidence base of fathers receiving a confirmation of a child's diagnosis of an intellectual and developmental disability, the impact of the diagnosis on fathers and their motivation to share their stories to add to the disability research. Health and social care practitioners have important contributions to make in meeting the needs of fathers. There are specific areas to consider in terms of practice, education and research that require further attention and development to ensure fathers' distinct needs regarding their child's diagnosis of IDD are known and responded to effectively. RELEVANCE TO CLINICAL PRACTICE: This study highlights that when the child's disability is confirmed, fathers experience a diverse range of mixed emotions. Health and social care practitioners including nurses need to be aware of the impact of the diagnosis upon fathers. There is scope to develop the knowledge, skills and confidence of health and social care practitioners regarding the experiences of fathers and how they can further support fathers and their families during the critical time of a disability disclosure.


Assuntos
Deficiências do Desenvolvimento/psicologia , Pai/psicologia , Deficiência Intelectual/psicologia , Adulto , Atitude do Pessoal de Saúde , Criança , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Feminino , Humanos , Deficiência Intelectual/diagnóstico , Masculino , Pessoa de Meia-Idade , Pesquisa Qualitativa
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