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1.
Yi Chuan ; 41(9): 801-815, 2019 Sep 20.
Artigo em Chinês | MEDLINE | ID: mdl-31549679

RESUMO

Development of the human brain is a strictly complex and precisely regulated process. Brain development includes the proliferation and differentiation of neural progenitor cells, migration and maturation of neurons, myelination of neuronal axons, synaptogenesis and organization of the neural circuits. Abnormalities of these developmental processes can lead to severe malformation and dysfunction of the brain, which may result in brain developmental diseases which have a high medical burden and have attracted global attention. Brain developmental diseases are typically divided into two categories according to abnormal brain morphology and dysfunction: malformation of cortical development (MCD) and neuropsychopathy. Microcephaly and autism spectrum disorder (ASD) are representative disorders of MCD and neuropsychopathy respectively. In this review, we summarize the progresses of these two typical and relevant brain developmental diseases including the mechanism and etiology of their development, gene expression, symptoms, and related to provide theoretical guidance for basic research and management and treatment.


Assuntos
Encéfalo/fisiopatologia , Deficiências do Desenvolvimento/fisiopatologia , Doenças do Sistema Nervoso/patologia , Doenças do Sistema Nervoso/psicologia , Transtorno do Espectro Autista/fisiopatologia , Humanos , Microcefalia/fisiopatologia , Neurogênese , Neurônios
2.
BMJ Case Rep ; 12(4)2019 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-30988102

RESUMO

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.


Assuntos
Prótese Vascular , Deficiências do Desenvolvimento/etiologia , Embolização Terapêutica , Malformações da Veia de Galeno/complicações , Angiografia Cerebral , Deficiências do Desenvolvimento/fisiopatologia , Deficiências do Desenvolvimento/cirurgia , Seguimentos , Humanos , Lactente , Imagem por Ressonância Magnética , Masculino , Resultado do Tratamento , Malformações da Veia de Galeno/diagnóstico por imagem , Malformações da Veia de Galeno/fisiopatologia , Malformações da Veia de Galeno/cirurgia
3.
Biomed Res Int ; 2019: 6021271, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30881992

RESUMO

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.


Assuntos
Deficiências do Desenvolvimento/cirurgia , Cabeça do Fêmur/cirurgia , Luxação do Quadril/cirurgia , Osteotomia/métodos , Cartilagem/fisiopatologia , Cartilagem/cirurgia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Cabeça do Fêmur/fisiopatologia , Luxação do Quadril/fisiopatologia , Humanos , Lactente , Masculino , Pressão , Amplitude de Movimento Articular/fisiologia , Estudos Retrospectivos , Resultado do Tratamento
4.
Ital J Pediatr ; 45(1): 38, 2019 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-30885247

RESUMO

BACKGROUND: In order to give a new contribution to the knowledge of the psycho-physical, behavioral and socio-relational development of the individuals who were born at neurological risk, we have carried out a research work through a retrospective and observational analysis in such people, followed in their neuro-evolutionary development from the Department of Pediatrics and Neonatology of the Hospital of Jesi. The purpose of this work is to value the quality of life of the individuals born at neurological risk at a distance of time from the birth. In the literature only recently there are studies on the quality of life of some categories of people, but survey does not seem to be performed in individuals previously born at neurological risk. METHODS: A statistical descriptive and inferential survey has been carried out on 812 individuals who were born at neurological risk, 442 preterm newborns and 370 term newborns, followed from 1977 until to 2007. They were classed in order to their age at the time of our observation. We have submitted the entire sample to a Questionnaire to investigate some areas of their life, ranging from their clinical and psycho-social history to their personal coming of life. Then the same persons, subdivided according to the various age groups, were subjected to other Questionnaires on the quality of life, internationally used. RESULTS: Neurological outcomes were found in 14.7% of the preterm newborns and in 6% of the term newborns, with a significant correlation between neurological outcomes and gestational age, low birth-weight, hypoxic-ischemic encephalopathy and low APGAR-index. Neuro-disabilities were found prevalently belong to the small for gestational age preterm newborns. A low quality of life emerged in those who had neurological outcomes. CONCLUSIONS: Our study on the individuals who were born at neurological risk, analyzed at a distance, shows that a good health is associated with a good quality of life, while a low quality of life occurs to those who had neurological outcome, especially in the physical, cognitive, emotional and socio-relational aspects. As far as the few neurological outcomes which we have found in this survey, we think that they are due, other than to the natural factors, also to the high quality of the obstetric and neonatal care, to the early habilitation physiotherapy and to the important collaboration with the family.


Assuntos
Deficiências do Desenvolvimento/fisiopatologia , Recém-Nascido Prematuro , Doenças Neurodegenerativas/diagnóstico , Doenças Neurodegenerativas/epidemiologia , Qualidade de Vida , Inquéritos e Questionários , Adulto , Fatores Etários , Índice de Apgar , Criança , Pré-Escolar , Doença Crônica , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/etiologia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/etiologia , Deficiência Intelectual/fisiopatologia , Masculino , Doenças Neurodegenerativas/terapia , Testes Neuropsicológicos , Gravidez , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Fatores Sexuais
5.
Artigo em Inglês | MEDLINE | ID: mdl-30897839

RESUMO

This study examined the health profile of children with different types of disabilities and explored the disability-specific associations with various types of health and functioning using a large nonclinical sample of children. A cross-sectional school survey was conducted during 2016 and 2017. A total of 4114 children (aged 6⁻18 years) receiving primary or secondary education, or their proxy, in Hong Kong participated in the study. Disabilities were categorized as (a) physical disabilities; (b) learning and developmental disabilities; (c) intellectual disabilities; (d) internalizing disorders or mental illness; and (e) autism spectrum disorder. Health-related quality of life (QoL), sleep-related QoL, activities of daily living (ADL), emotional functioning, and social functioning were assessed and compared between children with disabilities and those without. The results showed that children with disabilities showed poorer physical functioning, health-related QoL, and emotional and social functioning than their counterparts without disabilities. Disability-specific associations with health were found: (a) physical disabilities and intellectual disabilities were associated with greater difficulties in ADL; (b) language impairment and Attention deficit/ hyperactivity disorder (ADHD) were negatively associated with sleep-related QoL; (c) all types of disabilities but hearing impairment were negatively associated with health-related QoL (HRQoL); and (d) language impairment, ADHD, internalizing disorder, as well as autism spectrum disorder were associated with greater abnormal behavioral difficulties. The findings warrant the development of tailor-made intervention programs and give insights to effective resource allocation for the children in need.


Assuntos
Saúde da Criança , Deficiências do Desenvolvimento/fisiopatologia , Crianças com Deficiência , /fisiopatologia , Atividades Cotidianas , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Transtorno do Espectro Autista/fisiopatologia , Criança , Estudos Transversais , Emoções , Feminino , Hong Kong , Humanos , Relações Interpessoais , Masculino , Qualidade de Vida , Sono
6.
Int J Mol Sci ; 20(5)2019 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-30836598

RESUMO

Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and predisposition to rearrangement by the recurrent mechanism of non-allelic homologous recombination. Microarray technologies have allowed for the analysis of copy number variations (CNVs) that can contribute to the risk of developing complex diseases. By array comparative genomic hybridization (CGH) screening of 1476 patients, we detected 27 cases with CNVs on chromosome 16. We identified four smallest regions of overlapping (SROs): one at 16p13.11 was found in seven patients; one at 16p12.2 was found in four patients; two close SROs at 16p11.2 were found in twelve patients; finally, six patients were found with atypical rearrangements. Although phenotypic variability was observed, we identified a male bias for Childhood Apraxia of Speech associated to 16p11.2 microdeletions. We also reported an elevated frequency of second-site genomic alterations, supporting the model of the second hit to explain the clinical variability associated with CNV syndromes. Our goal was to contribute to the building of a chromosome 16 disease-map based on disease susceptibility regions. The role of the CNVs of chromosome 16 was increasingly made clear in the determination of developmental delay. We also found that in some cases a second-site CNV could explain the phenotypic heterogeneity by a simple additive effect or a pejorative synergistic effect.


Assuntos
Anormalidades Múltiplas/genética , Cromossomos Humanos Par 16/genética , Hibridização Genômica Comparativa , Deficiências do Desenvolvimento/genética , Anormalidades Múltiplas/classificação , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Aberrações Cromossômicas , Deleção Cromossômica , Variações do Número de Cópias de DNA/genética , Deficiências do Desenvolvimento/classificação , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Recombinação Homóloga/genética , Humanos , Lactente , Recém-Nascido , Cariótipo , Masculino , Fenótipo , Duplicações Segmentares Genômicas/genética , Adulto Jovem
7.
J Appl Genet ; 60(2): 151-162, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30706430

RESUMO

Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One type of the disorder, MCPH2, is caused by biallelic mutations in the WDR62 gene, which encodes the WD repeat-containing protein 62. Patients with WDR62 mutation may have a wide range of malformations of cortical development in addition to congenital microcephaly. We describe two patients, a boy and a girl, with severe congenital microcephaly, global developmental delay, epilepsy, and failure to thrive. MRI showed hemispherical asymmetry, diffuse pachygyria, thick gray matter, indistinct gray-white matter junction, and corpus callosum and white matter hypoplasia. Whole exome sequencing revealed the same novel homozygous missense mutation, c.668T>C, p.Phe223Ser in exon 6 of the WDR62 gene. The healthy parents were heterozygous for this mutation. The mutation affects a highly conserved region in one of the WD repeats of the WDR62 protein. Haplotype analysis showed genetic relatedness between the families of the patients. Our findings expand the spectrum of mutations randomly distributed in the WDR62 gene. A review is also provided of the brain malformations described in WDR62 mutations in association with congenital microcephaly.


Assuntos
Deficiências do Desenvolvimento/genética , Microcefalia/genética , Proteínas do Tecido Nervoso/genética , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Substância Cinzenta/diagnóstico por imagem , Substância Cinzenta/patologia , Haplótipos , Homozigoto , Humanos , Masculino , Microcefalia/diagnóstico por imagem , Microcefalia/fisiopatologia , Mutação de Sentido Incorreto/genética , Linhagem , Substância Branca/diagnóstico por imagem , Substância Branca/patologia
8.
PLoS One ; 14(1): e0211466, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30703141

RESUMO

Annotation of foot-contact and foot-off events is the initial step in post-processing for most quantitative gait analysis workflows. If clean force plate strikes are present, the events can be automatically detected. Otherwise, annotation of gait events is performed manually, since reliable automatic tools are not available. Automatic annotation methods have been proposed for normal gait, but are usually based on heuristics of the coordinates and velocities of motion capture markers placed on the feet. These heuristics do not generalize to pathological gait due to greater variability in kinematics and anatomy of patients, as well as the presence of assistive devices. In this paper, we use a data-driven approach to predict foot-contact and foot-off events from kinematic and marker time series in children with normal and pathological gait. Through analysis of 9092 gait cycle measurements we build a predictive model using Long Short-Term Memory (LSTM) artificial neural networks. The best-performing model identifies foot-contact and foot-off events with an average error of 10 and 13 milliseconds respectively, outperforming popular heuristic-based approaches. We conclude that the accuracy of our approach is sufficient for most clinical and research applications in the pediatric population. Moreover, the LSTM architecture enables real-time predictions, enabling applications for real-time control of active assistive devices, orthoses, or prostheses. We provide the model, usage examples, and the training code in an open-source package.


Assuntos
Algoritmos , Paralisia Cerebral/fisiopatologia , Deficiências do Desenvolvimento/fisiopatologia , Pé/fisiologia , Marcha/fisiologia , Doenças do Sistema Nervoso/fisiopatologia , Adolescente , Adulto , Fenômenos Biomecânicos , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Adulto Jovem
10.
Res Dev Disabil ; 87: 54-63, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30772706

RESUMO

BACKGROUND: Very preterm (VPT) children showed delays in reading, spelling and maths, but their academic achievement profile is not clearly understood. AIMS: VPT children were compared with children with specific learning disorders (SLD) and typically developing (TD) children on academic achievement, considering cognitive and linguistic phenotypic markers. A learning profile analysis was also performed. METHODS: We included 170 10-year old monolingual Italian-speaking children (37 VPT, 28 SLD, 105 TD) assessing cognitive, linguistic and academic skills. RESULTS: On academic achievements VPT children fell behind TD peers in some reading (text speed, comprehension), spelling (non-word), and math (number knowledge, written calculations and problem-solving) tasks. SLD children underperformed in all academic tasks with respect to VPT and TD peers. Concerning cognitive and linguistic phenotypic markers, compared to TD peers, VPT children showed lower scores in verbal IQ and phonological fluency, SLD children in phonological processing and rapid automatized naming. VPT children showed a higher rate of at-risk performance in reading compared to TD group, but a minor percentage of impaired profiles and comorbidity among learning areas compared to SLD group. CONCLUSIONS AND IMPLICATIONS: The academic achievement profile of VPT children shows persistent delays, but it differs to that of SLD children, since delays are less widespread and severe, and differences were found in phenotypic markers and comorbidity. Follow-up programs and effective interventions are needed for VPT children.


Assuntos
Sucesso Acadêmico , Cognição , Deficiências do Desenvolvimento/fisiopatologia , Linguagem , Matemática , Leitura , Transtorno de Aprendizagem Específico/fisiopatologia , Redação , Criança , Feminino , Humanos , Lactente Extremamente Prematuro , Recém-Nascido Prematuro , Masculino , Fenótipo
11.
Gene ; 695: 12-17, 2019 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-30738969

RESUMO

Microcephaly is a rare condition in which the occipitofrontal circumference in a child is more than two standard deviations below the mean of children of the same age and gender. It is mainly caused by genetic abnormalities that interfere with the growth of the cerebral cortex during early months of fetal development. We present a case of a 12 years old patient with microcephaly. To identify a possible genetic origin of the phenotype, we performed array CGH and exome sequencing in the patient. Exome sequencing revealed the presence of a de novo missense mutation in the TUBB5 gene (E401K). Mutations in the TUBB5 are mainly responsible for microcephaly but the clinical spectrum is wide, from patients with severe developmental delay, and the presence of different brain malformations, to patients with only slightly cognitive impairment and normal motor development. Our patient shows a milder phenotype than other patients carrying the same mutation. These differences in the clinical features suggest that other factors, presumably genetic or epigenetic, could be modulating clinical expressivity of TUBB5. It is therefore evident that more functional studies are needed to understand the pathology that underlies the clinical spectrum of tubulin associated disease states.


Assuntos
Deficiências do Desenvolvimento/genética , Microcefalia/genética , Malformações do Sistema Nervoso/genética , Tubulina (Proteína)/genética , Criança , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/fisiopatologia , Exoma/genética , Feminino , Humanos , Masculino , Microcefalia/diagnóstico , Microcefalia/fisiopatologia , Mutação , Malformações do Sistema Nervoso/diagnóstico , Malformações do Sistema Nervoso/fisiopatologia
12.
J Hum Genet ; 64(4): 291-296, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30692598

RESUMO

A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility to fractures. We report an additional case where arachnoid cysts extend the phenotype, and that also confirms the association of intellectual disabilities with asymmetric cerebellar hypoplasia here. Interestingly, if the cerebellum is normal in this disorder, intelligence is as well, analogous to an association with similar delays in a subset of patients with sporadic unilateral cerebellar hypoplasia. Those cases typically appear to represent vascular disruptions, and we suggest that most brain anomalies in WNT1-associated OI have vascular origins related to a role for WNT1 in CNS angiogenesis. This unusual combination of benign cerebellar findings with effects on higher functions in these two situations raises the possibility that WNT1 is involved in the pathogenesis of the associated sporadic cases as well. Finally, our patient reacted poorly to pamidronate, which appears ineffective with this form of OI, so that a lack of improvement is an indication for molecular testing that includes WNT1.


Assuntos
Sistema Nervoso Central/fisiopatologia , Deficiência Intelectual/genética , Osteogênese Imperfeita/genética , Proteína Wnt1/genética , Cistos Aracnóideos/diagnóstico por imagem , Cistos Aracnóideos/fisiopatologia , Sistema Nervoso Central/anormalidades , Sistema Nervoso Central/diagnóstico por imagem , Cerebelo/anormalidades , Cerebelo/diagnóstico por imagem , Cerebelo/fisiopatologia , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/fisiopatologia , Lobo Frontal/diagnóstico por imagem , Lobo Frontal/fisiopatologia , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/tratamento farmacológico , Deficiência Intelectual/fisiopatologia , Mutação , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/genética , Malformações do Sistema Nervoso/fisiopatologia , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/tratamento farmacológico , Osteogênese Imperfeita/fisiopatologia , Pamidronato/administração & dosagem , Pamidronato/efeitos adversos
13.
J Hum Genet ; 64(4): 313-322, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30655572

RESUMO

Casein kinase 2 (CK2) is a serine threonine kinase ubiquitously expressed in eukaryotic cells and involved in various cellular processes. In recent studies, de novo variants in CSNK2A1 and CSNK2B, which encode the subunits of CK2, have been identified in individuals with intellectual disability syndrome. In this study, we describe four patients with neurodevelopmental disorders possessing de novo variants in CSNK2A1 or CSNK2B. Using whole-exome sequencing, we detected two de novo variants in CSNK2A1 in two unrelated Japanese patients, a novel variant c.571C>T, p.(Arg191*) and a recurrent variant c.593A>G, p.(Lys198Arg), and two novel de novo variants in CSNK2B in Japanese and Malaysian patients, c.494A>G, p.(His165Arg) and c.533_534insGT, p.(Pro179Tyrfs*49), respectively. All four patients showed mild to profound intellectual disabilities, developmental delays, and various types of seizures. This and previous studies have found a total of 20 CSNK2A1 variants in 28 individuals with syndromic intellectual disability. The hotspot variant c.593A>G, p.(Lys198Arg) was found in eight of 28 patients. Meanwhile, only five CSNK2B variants were identified in five individuals with neurodevelopmental disorders. We reviewed the previous literature to verify the phenotypic spectrum of CSNK2A1- and CSNK2B-related syndromes.


Assuntos
Caseína Quinase II/genética , Deficiências do Desenvolvimento/genética , Convulsões/genética , Adolescente , Criança , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Humanos , Lactente , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Masculino , Mutação , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/fisiopatologia , Linhagem , Convulsões/complicações , Convulsões/fisiopatologia , Sequenciamento Completo do Exoma
14.
Brain Dev ; 41(5): 397-405, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30611596

RESUMO

OBJECTIVE: To examine the relationship between the catch-up growth of preterm, SGA children and their behavioral development. METHODS: We analyzed data from a large Japanese, nationwide, population-based, longitudinal survey that started in 2001. We restricted the study participants to preterm children with information on height at 2 years of age (n = 1667). Catch-up growth for SGA infants was defined as achieving a height at 2 years of age above -2.0 standard deviations for chronological age. We then used logistic regression to estimate odds ratios (ORs) and 95% confidence intervals (95% CIs) for the associations of SGA/catch-up status with neurobehavioral development both at 5.5 and 8 years of age, adjusting for potential infant- and parent-related confounding factors. RESULTS: Twenty-six percent of preterm SGA infants failed to catch up. SGA children without catch-up growth were more likely to be unable to listen without fidgeting (OR 2.51, 95% CI: 1.06-5.93) and unable to focus on one task (OR 2.66, 95% CI: 1.09-6.48) compared with non-SGA children at 5.5 years of age. Furthermore, SGA children without catch-up growth were at significant risk for inattention at 8 years of age. CONCLUSIONS: SGA infants with poor postnatal growth were at risk for attention problems throughout preschool-age to school-age among preterm infants. Early detection and intervention for attention problems among these infants is warranted.


Assuntos
Sintomas Comportamentais/fisiopatologia , Desenvolvimento Infantil/fisiologia , Deficiências do Desenvolvimento/fisiopatologia , Recém-Nascido Prematuro/fisiologia , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Criança , Pré-Escolar , Feminino , Humanos , Recém-Nascido , Estudos Longitudinais , Masculino
15.
Semin Fetal Neonatal Med ; 24(1): 54-59, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30322826

RESUMO

Late preterm infants (born at 340/7-366/7 weeks gestation) have been found to have increased morbidity and mortality compared to full term infants. Research has also been done to explore longer-term neurodevelopmental outcomes. This review details neurodevelopmental outcomes from birth to adulthood for late preterm infants. Outcome studies indicate that they are at increased risk of developmental disability, school failure, behavior problems, social and medical disabilities, and death. Many questions still remain regarding late preterm infant neurodevelopmental outcomes and future research should be done into this topic. Given the high prevalence of late preterm births, even small differences in abilities, special education, and length of education may have broader consequences.


Assuntos
Desenvolvimento Infantil/fisiologia , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/fisiopatologia , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido Prematuro , Prevalência , Risco
16.
Dev Sci ; 22(2): e12737, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30176106

RESUMO

Rodent lesion studies have revealed the existence of two causally dissociable spatial memory systems, localized to the hippocampus and striatum that are preferentially sensitive to environmental boundaries and landmark objects, respectively. Here we test whether these two memory systems are causally dissociable in humans by examining boundary- and landmark-based memory in typical and atypical development. Adults with Williams syndrome (WS)-a developmental disorder with known hippocampal abnormalities-and typical children and adults, performed a navigation task that involved learning locations relative to a boundary or a landmark object. We found that boundary-based memory was severely impaired in WS compared to typically-developing mental-age matched (MA) children and chronological-age matched (CA) adults, whereas landmark-based memory was similar in all groups. Furthermore, landmark-based memory matured earlier in typical development than boundary-based memory, consistent with the idea that the WS cognitive phenotype arises from developmental arrest of late maturing cognitive systems. Together, these findings provide causal and developmental evidence for dissociable spatial memory systems in humans.


Assuntos
Deficiências do Desenvolvimento/fisiopatologia , Memória Espacial/fisiologia , Síndrome de Williams/fisiopatologia , Adulto , Criança , Cognição/fisiologia , Corpo Estriado/fisiologia , Feminino , Hipocampo/fisiologia , Humanos , Masculino , Testes de Navegação Mental , Navegação Espacial/fisiologia
17.
Genet Med ; 21(4): 850-860, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30245513

RESUMO

PURPOSE: Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. Within 2 years, the number of patients identified with pathogenic KAT6A variants has rapidly expanded and the full extent and variability of the clinical phenotype has not been reported. METHODS: We obtained data for patients with KAT6A pathogenic variants through three sources: treating clinicians, an online family survey distributed through social media, and a literature review. RESULTS: We identified 52 unreported cases, bringing the total number of published cases to 76. Our results expand the genotypic spectrum of pathogenic variants to include missense and splicing mutations. We functionally validated a pathogenic splice-site variant and identified a likely hotspot location for de novo missense variants. The majority of clinical features in KAT6A syndrome have highly variable penetrance. For core features such as intellectual disability, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications, genotype- phenotype correlations show that late-truncating pathogenic variants (exons 16-17) are significantly more prevalent. We highlight novel associations, including an increased risk of gastrointestinal obstruction. CONCLUSION: Our data expand the genotypic and phenotypic spectrum for individuals with genetic pathogenic variants in KAT6A and we outline appropriate clinical management.


Assuntos
Deficiências do Desenvolvimento/genética , Histona Acetiltransferases/genética , Deficiência Intelectual/genética , Adolescente , Adulto , Criança , Pré-Escolar , Deleção Cromossômica , Deficiências do Desenvolvimento/fisiopatologia , Exoma/genética , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Lactente , Deficiência Intelectual/fisiopatologia , Masculino , Microcefalia/genética , Microcefalia/fisiopatologia , Mutação , Fenótipo , Isoformas de Proteínas/genética , Adulto Jovem
18.
Res Dev Disabil ; 85: 172-186, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30572148

RESUMO

BACKGROUND & AIMS: Previous research indicates that young children with a significant cognitive and motor developmental delay show low levels of interactive engagement, their parents are generally responsive towards them and these variables are positively correlated. Adapting a micro-level approach, we aim to go beyond macro-level and correlational analyses by charting the frequency, intra-individual co-occurrence and inter-individual temporal dependency of specific interactive behaviors. METHODS & PROCEDURES: Twenty-nine parent-child dyads (with children aged 6-59 months) were video-taped during a 15-minute unstructured play situation. Based on a self-developed coding scheme, interactive behaviors were coded continuously and analyzed using a three-step sequential analysis approach. OUTCOMES & RESULTS: Parents and children systematically combine either more socially-oriented or more object-oriented behaviors. Socially-oriented behaviors are less frequent in children, especially looking at and touching the partner occurs less. Socially- and object-oriented behavioral clusters are generally independent from each other and instigate/maintain the same type of behaviors in the interaction partner. While children's socially oriented behavior(al cluster)s seem to need a parental 'trigger', parents will more often independently engage with their child despite low child responsiveness. CONCLUSIONS AND IMPLICATIONS: Further intervention-oriented research is needed to confirm this study's results and translate them into concrete guidelines for parents.


Assuntos
Comportamento Infantil , Deficiências do Desenvolvimento/fisiopatologia , Deficiência Intelectual/fisiopatologia , Comportamento Materno , Transtornos das Habilidades Motoras/fisiopatologia , Relações Pais-Filho , Comportamento Paterno , Comportamento Social , Adulto , Pré-Escolar , Cognição , Contratura , Feminino , Perda Auditiva , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Hipertonia Muscular , Hipotonia Muscular , Escoliose , Transtornos da Visão
19.
Phys Occup Ther Pediatr ; 39(1): 48-59, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-29465319

RESUMO

AIMS: (1) examine infant movement during an early posture (sitting) utilizing a novel video assessment technique; and (2) document the differences between infants with typical development (TD), premature infants with motor delay, and infants with cerebral palsy (CP) during focused and nonfocused attention (NFA). METHODS: Infants were tested when they began to sit independently. We utilized Eulerian Video Magnification (EVM) to accentuate small trunk and pelvic movements for visual coding from video taken during a natural play task with and without focused attention (FA). RESULTS: Trunk/pelvic movement varied as a function of both motor skill and attention. Infants with TD and CP made fewer trunk movements during periods of FA than NFA. Preterm infants exhibited more trunk/pelvic movement than the other groups and their movement did not differ based on attention type. CONCLUSIONS: The EVM technique allowed for replicable coding of real-time "hidden" motor adjustments from video. The capacity to minimize extraneous movements in infants, or "sitting still" may allow greater attention to the task at hand, similar to older children and adults. Premature infants' excessive trunk/pelvic movement that did not adapt to task requirements could, in the long term, impact tasks requiring attentional resources.


Assuntos
Atenção/fisiologia , Paralisia Cerebral/fisiopatologia , Desenvolvimento Infantil , Deficiências do Desenvolvimento/fisiopatologia , Tronco/fisiopatologia , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido Prematuro/fisiologia , Masculino , Pelve , Postura/fisiologia , Postura Sentada , Gravação em Vídeo/métodos
20.
Brain Dev ; 41(4): 320-326, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30503574

RESUMO

OBJECTIVE: This study investigated the relationship between motor and cognitive/language development in children with Down syndrome (DS). We also tested the hypothesis that acquisition of walking skills facilitates later cognitive/language development. METHODS: Participants were 156 children with DS who were less than 48 months old and had undergone a health checkup by medical doctors and received rehabilitation treatment between April 2013 and March 2017 in Yokohama, Japan. To assess their development, the Kyoto Scale of Psychological Development (KSPD) 2001 was used, which measures development in three subdomains: Posture-Motor (P-M), Cognitive-Adaptive (C-A), and Language-Social (L-S). To investigate the relationship between motor and cognitive/language development, partial correlation analyses were conducted that controlled for participants' age. To test the effect of achieving walking skills, regression analyses were conducted using only data from participants who took the KSPD at least twice and could not walk at the initial test. RESULTS: P-M developmental age (DA) was significantly and positively correlated with both C-A DA and L-S DA in children 1-3 years old. The relationship strengthened with increased age. Acquisition of walking skills had a significant positive effect on both the C-A DA and L-S DA at the second test when controlling for the C-A DA and L-S DA at the first test and age at the second test. CONCLUSION: Motor development was correlated with both cognitive and language development in young children with DS. Results also suggested that achievement of walking could facilitate later cognitive/language development in children with DS.


Assuntos
Desenvolvimento Infantil/fisiologia , Síndrome de Down/fisiopatologia , Pré-Escolar , Cognição/fisiologia , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Humanos , Lactente , Japão , Desenvolvimento da Linguagem , Masculino , Destreza Motora/fisiologia , Transtornos das Habilidades Motoras/fisiopatologia , Caminhada/fisiologia
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