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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.
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
4.
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
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 , Transtornos de Aprendizagem/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.
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
9.
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
10.
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
11.
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
12.
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
13.
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
14.
Plast Reconstr Surg ; 143(1): 133e-139e, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30589799

RESUMO

BACKGROUND: Some patients with isolated sagittal craniosynostosis have demonstrated mild neurodevelopmental delays. This study examined potential preoperative risk factors for developmental delay. METHODS: Patients completed preoperative Bayley Scales of Infant and Toddler Development, Third Edition, and medical records were reviewed. Multivariate analyses of covariance and correlations were calculated. RESULTS: Participants (n = 77) were predominantly male (77.9 percent) and were aged 2 to 12 months (mean, 5.1 ± 2.3 months). Patients were classified with no delays [n = 63 (82 percent)] or delays [n = 14 (18 percent)] in one or more developmental area(s). There were no group sociodemographic differences. Prenatally, patients with delays versus no delays had lower mean gestational age in weeks (36.9 ± 2.8 weeks versus 39.1 ± 1.7 weeks; p = 0.001) with higher rates of gestational diabetes (36 percent versus 5 percent; p = 0.006) and premature rupture of membranes (14 percent versus 2 percent; p = 0.026). At birth, patients with delays had lower mean birth weight (2982 ± 714 g versus 3374 ± 544 g; p = 0.053), higher rates of respiratory distress (29 percent versus 5 percent; p = 0.005), additional medical diagnoses (57 percent versus 13 percent; p = 0.001), and longer mean neonatal intensive care unit stays (1.4 ± 1.8 weeks versus 0.2 ± 0.9 week; p = 0.002). Variables differing by group had moderate correlations. CONCLUSIONS: Patients with nonsyndromic sagittal craniosynostosis that had delays in development had lower gestational age and birth weight, with more prenatal and birth complications. These factors can help identify patients who might be at risk for delay and need close monitoring. CLINICAL QUESTION/LEVEL OF EVIDENCE: Risk, III.


Assuntos
Craniossinostoses/complicações , Deficiências do Desenvolvimento/etiologia , Unidades de Terapia Intensiva Neonatal , Nascimento Prematuro , Procedimentos Cirúrgicos Reconstrutivos/métodos , Fatores Etários , Estudos de Coortes , Craniossinostoses/diagnóstico por imagem , Craniossinostoses/cirurgia , Deficiências do Desenvolvimento/epidemiologia , Deficiências do Desenvolvimento/fisiopatologia , Ossos Faciais/anormalidades , Ossos Faciais/cirurgia , Feminino , Idade Gestacional , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Monitorização Fisiológica/métodos , Análise Multivariada , Gravidez , Cuidados Pré-Operatórios/métodos , Prognóstico , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Fatores Socioeconômicos
15.
World Neurosurg ; 123: e760-e765, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30579032

RESUMO

OBJECTIVE: The new direct gradual cranial expansion surgical technique has been used to treat children with postshunt microcephaly and slit ventricle syndrome. To evaluate the feasibility of this new surgical treatment, we studied intracranial pressure (ICP) in microcephalic children with developmental delay. METHODS: Mean ICP, age, sex, head size, and developmental assessments were compared in 24 microcephalic children with developmental delay who had had continuous ICP monitoring. RESULTS: Children studied included 9 boys and 15 girls with a mean age of 4.9 ± 2.0 years. Mean ICP was 18.7 ± 8.6 mm Hg. Children with high ICP had significantly lower age and higher B wave ratios than children with low ICP. There were no statistically significant differences in developmental scores and head sizes between children with high ICP and children with low ICP. In multiple linear regression analysis, we observed significantly increased risk of mean ICP elevation by B wave ratio and developmental score and decreased risk of mean ICP elevation by age, but not significantly increased risk of mean ICP elevation by head circumferences (z score). CONCLUSIONS: Our findings suggest that a portion of microcephalic children with developmental delay have high ICP that cannot be expected from head sizes, and high ICP has decreasing tendency with age.


Assuntos
Deficiências do Desenvolvimento/fisiopatologia , Hipertensão Intracraniana/fisiopatologia , Microcefalia/fisiopatologia , Cefalometria , Criança , Pré-Escolar , Deficiências do Desenvolvimento/complicações , Eletrodos Implantados , Estudos de Viabilidade , Feminino , Humanos , Hipertensão Intracraniana/complicações , Pressão Intracraniana/fisiologia , Masculino , Microcefalia/complicações , Microcefalia/cirurgia , Monitorização Ambulatorial/instrumentação , Monitorização Fisiológica/instrumentação , Procedimentos Neurocirúrgicos/métodos , Fatores de Risco
16.
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
17.
Ann Otol Rhinol Laryngol ; 127(12): 978-985, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30296844

RESUMO

OBJECTIVES:: Dysphagia and impaired saliva control are common in children and adolescents with congenital and developmental disabilities. The aim of the present review was to investigate the evidence base for oral sensory-motor interventions in children and adolescents with dysphagia or impaired saliva control secondary to congenital or early-acquired disabilities and to make recommendations regarding methods for intervention. METHODS:: A review of the literature from 2000 to 2016, including oral sensory-motor intervention studies for children and adolescents (3-18 years of age) with dysphagia or impaired saliva control secondary to congenital or early-acquired disabilities, was performed. The literature search included the PubMed, CINAHL, Medline, SpeechBITE, OVID, ERIC, Cochrane, and Google Scholar databases. Primary studies were evaluated on a 4-grade scale using the Grading of Recommendations Assessment, Development and Evaluation. RESULTS:: Twenty primary studies of oral sensory-motor interventions for dysphagia and 6 studies for the treatment of impaired saliva control fulfilled the inclusion criteria. Of these, 3 were randomized, controlled trials. Five systematic reviews and 16 narrative reviews were also included. Limited and moderately strong recommendations were made on the basis of the grading results from the primary studies. The studies reported good results, but study design was often insufficient, and the study groups were small. The systematic reviews confirmed the lack of high scientific support for oral sensory-motor interventions in children and adolescents with congenital and developmental disabilities. CONCLUSIONS:: There is an urgent need for high-quality studies that could serve as the basis for strong recommendations relating to oral sensory-motor interventions for children with dysphagia and impaired saliva control.


Assuntos
Transtornos de Deglutição , Deficiências do Desenvolvimento , Modalidades de Fisioterapia , Desempenho Psicomotor , Sialorreia , Adolescente , Criança , Pré-Escolar , Deglutição/fisiologia , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/terapia , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/fisiopatologia , Deficiências do Desenvolvimento/terapia , Humanos , Sialorreia/etiologia , Sialorreia/terapia
18.
Medicine (Baltimore) ; 97(36): e12106, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30200094

RESUMO

This study investigated the effects of a short-term family-centered workshop for children with developmental delays.This study was conducted in a rehabilitation outpatient clinic of a teaching hospital. We recruited 30 children with developmental delays and their parents as the study group and 57 age- and sex-matched children with typical development and their parents as the control group. The workshop was conducted for the children with developmental delays and their parents in the form of one 2-hour session per week for 6 weeks by health and education professionals by using a family-centered multidisciplinary approach. The Mandarin-Chinese Communicative Developmental Inventory and Peabody Developmental Motor Scales-Second Edition were used to assess the communication and motor skills of the children with developmental delays. The parent form of the Pediatric Outcomes Data Collection Instrument, Child Health Questionnaire, Pediatric Quality of Life (PedsQL) Inventory, and PedsQL Family Impact Module were administered to the parents of both groups.On study commencement, no significant differences were noted in functional performance and family impact between the children with developmental delays and those without delays. The children with developmental delays had lower health and health-related quality of life (HRQOL) scores than the children with typical development. Following the workshop, the study group exhibited significant improvements in physical health (94.2 vs 80.2, effect size: 1.00, P = .026), global function (94.8 vs 78.7, effect size: 0.88, P = .006), impact of the child's health on parental HRQOL (85.0 vs 70.4, effect size: 0.81, P = .043), and parental HRQOL (81.3 vs 65.0, effect size: 0.81, P = .015). No significant differences were recorded in function, health, HRQOL, or family impact between the children with developmental delays and those with typical development after 6 weeks.The multidisciplinary short-term family-centered workshop for children with developmental delays improved the children's physical health and global functional skills, and it reduced the impact of the child's health on parental HRQOL while also improving parental HRQOL.


Assuntos
Deficiências do Desenvolvimento/reabilitação , Pais , Assistência Ambulatorial , Pré-Escolar , Comunicação , Efeitos Psicossociais da Doença , Deficiências do Desenvolvimento/fisiopatologia , Deficiências do Desenvolvimento/psicologia , Feminino , Humanos , Lactente , Masculino , Destreza Motora , Pais/educação , Pais/psicologia , Estudos Prospectivos , Qualidade de Vida , Resultado do Tratamento
19.
Dev Psychopathol ; 30(3): 825-842, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-30068425

RESUMO

Two sets of evidence reviewed herein, one indicating that prenatal stress is associated with elevated behavioral and physiological dysregulation and the other that such phenotypic functioning is itself associated with heightened susceptibility to positive and negative environmental influences postnatally, raises the intriguing hypothesis first advanced by Pluess and Belsky (2011) that prenatal stress fosters, promotes, or "programs" postnatal developmental plasticity. Here we review further evidence consistent with this proposition, including new experimental research systematically manipulating both prenatal stress and postnatal rearing. Collectively this work would seem to explain why prenatal stress has so consistently been linked to problematic development: stresses encountered prenatally are likely to continue postnatally, thereby adversely affecting the development of children programmed (by prenatal stress) to be especially susceptible to environmental effects. Less investigated are the potential benefits prenatal stress may promote, due to increased plasticity, when the postnatal environment proves to be favorable. Future directions of research pertaining to potential mechanisms instantiating postnatal plasticity and moderators of such prenatal-programming effects are outlined.


Assuntos
Encéfalo/fisiopatologia , Transtornos do Comportamento Infantil/fisiopatologia , Deficiências do Desenvolvimento/fisiopatologia , Desenvolvimento Fetal/fisiologia , Plasticidade Neuronal/fisiologia , Efeitos Tardios da Exposição Pré-Natal/fisiopatologia , Sintomas Afetivos/fisiopatologia , Sintomas Afetivos/psicologia , Sintomas Afetivos/terapia , Animais , Criança , Transtornos do Comportamento Infantil/psicologia , Transtornos do Comportamento Infantil/terapia , Deficiências do Desenvolvimento/psicologia , Deficiências do Desenvolvimento/terapia , Modelos Animais de Doenças , Suscetibilidade a Doenças , Feminino , Humanos , Masculino , Gravidez , Efeitos Tardios da Exposição Pré-Natal/psicologia , Efeitos Tardios da Exposição Pré-Natal/terapia , Psicoterapia , Fatores de Risco , Meio Social
20.
Span J Psychol ; 21: E20, 2018 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-29880070

RESUMO

The aim of this study is to provide an overview of the development of premature children, including attachment, child psychological adjustment and parental variables. 130 children < 1,500 g or < 32 weeks at birth from two public hospitals, assessed at two years corrected age, together with their parents. Parental socio-demographic data was collected. Infant development, attachment and child psychological adjustment were evaluated, as was parental stress. The percentage of preterm children with developmental delays ranged from 5% to 21%. Girls tend to show higher levels of development than boys with effect sizes ranging from small, η2p = .02, to medium, η2p = .07. Secure attachment was the most frequent pattern in the sample. No significant differences, p < .05, between preterm children and the normative population were found on children´s behavioral problems and maternal stress levels. Despite the fact prematurity is considered to be a risk factor for a child´s development, a significant proportion of these children do not show problems in terms of developmental levels, attachment pattern and maternal stress. However, socio-emotional and affective domains, as well as psychological support programs for parenthood, should be followed up from a multidisciplinary perspective.


Assuntos
Adaptação Psicológica/fisiologia , Desenvolvimento Infantil/fisiologia , Deficiências do Desenvolvimento/fisiopatologia , Recém-Nascido Prematuro/psicologia , Mães/psicologia , Apego ao Objeto , Poder Familiar/psicologia , Estresse Psicológico/psicologia , Pré-Escolar , Feminino , Humanos , Masculino , Espanha
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