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1.
Rehabil Psychol ; 2024 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-38647452

RESUMO

PURPOSE/OBJECTIVE: To investigate the occurrence of behavioral problems 7 years after severe pediatric traumatic brain injury (TBI), and their evolution from 3 months to 7 years postinjury. METHOD/DESIGN: Thirty-four participants, 38% girls, M (SD) age at injury 7.6 (4.7) years, age at assessment 15 (4.6) years, underwent comprehensive assessments 7 years after severe TBI from March 2014 to March 2016 and were matched to a control group by age, gender, and parental education. A subgroup of 20 participants had available behavioral assessments at 3, 12, and 24 months postinjury. Internalizing, externalizing, and total behavioral problems were assessed with self- and parent reports of the Achenbach's Behavioral Checklist. Additional data included sociodemographic background, initial injury severity, and specific outcomes assessed concurrently 7 years postinjury. RESULTS: Compared to controls: (a) a significant proportion of participants with severe TBI fell above the clinical cutoff for self- (42%) and parent-reported (36%) externalizing problems, but not for self- (33%) or parent-reported (45%) internalizing problems; (b) withdrawn/depressed, intrusive behavior, and somatic complaints were significantly higher in self-reports; and (c) rule-breaking behavior, attention, and social problems were significantly higher in parent reports. Parent-reported internalizing problems were associated with older age at injury, whereas externalizing problems correlated with greater injury severity and concurrent levels of greater overall disability, lower intellectual ability, and poorer family functioning. In multiple hierarchical regression analyses, overall disability and worse family functioning significantly predicted externalizing problems. Parent-reported internalizing and externalizing problems persisted over time. CONCLUSIONS/IMPLICATIONS: These results highlight the importance of long-term follow-up and individualized behavioral interventions for children who sustained severe TBI. (PsycInfo Database Record (c) 2024 APA, all rights reserved).

2.
Brain Inj ; 38(6): 467-478, 2024 May 11.
Artigo em Inglês | MEDLINE | ID: mdl-38379310

RESUMO

OBJECTIVE: To investigate reported burden by the Primary Family Caregiver (PFC) 7-years after severe pediatric traumatic brain injury in the TGE (Traumatisme Grave de l'Enfant) longitudinal study. METHODS: Subjective burden was estimated with the Zarit Burden Inventory (ZBI) in 36 PFC (parents), who rated their own health status (Medical Outcome Study Short Form-12), family functioning and their child's level of care and needs (Pediatric/Adult Care And Needs Scale [PCANS/CANS]). Data collection included: child and PFC sociodemographic characteristics, injury-related factors, 'objective' (e.g. overall level of disability: Glasgow Outcome Scale - Extended, GOS-E/GOS-E-Peds) and 'subjective' outcomes (e.g. participation, behavior, executive functions, quality of life and fatigue). RESULTS: 25% of PFC reported mild-moderate burden, and 19% moderate-severe burden. Higher burden correlated with worse outcomes in all 'subjective' PFC-rated outcomes, and with self-reported participation. The ZBI correlated strongly with CANS/PCANS and GOS-E/GOS-E-Peds. Overall level of disability and PFC-reported executive functioning explained 62% of the ZBI variance. For equal levels of disability, burden was higher when PFC reported a 'negative' picture of their child. CONCLUSION: Significant PFC-reported burden 7-years post-injury was associated with overall disability and 'subjective' PFC-rated outcomes. Factors influencing parental burden in the long term should be identified and psychological support implemented over time.


Assuntos
Lesões Encefálicas Traumáticas , Lesões Encefálicas , Adulto , Humanos , Criança , Estudos Longitudinais , Qualidade de Vida/psicologia , Cuidadores/psicologia , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas/complicações
3.
J Midwifery Womens Health ; 67 Suppl 1: S93-S98, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36480666

RESUMO

Shaken baby syndrome is the most severe head injury in children. Shaking is an extremely violent gesture, often repeated. The children affected are generally less than a year old, in 2/3 of cases, less than 6 months old. More than 10% of them die, and more than three-quarters of the survivors have long-term effects. Prevention is therefore essential. When a parent (or any person) is strongly upset by an infant's uncalmable crying, the best thing for them to do is to lay the child down in a supine position in his or her bed, leave the room, and then ask for help.


Assuntos
Síndrome do Bebê Sacudido , Criança , Humanos , Lactente , Síndrome do Bebê Sacudido/diagnóstico , Síndrome do Bebê Sacudido/prevenção & controle
4.
J Midwifery Womens Health ; 67 Suppl 1: S2-S16, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36480672

RESUMO

These clinical practice guidelines from the French National College of Midwives (CNSF) are intended to define the messages and the preventive interventions to be provided to women and co-parents by the different professionals providing care to women or their children during the perinatal period. These guidelines are divided into 10 sections, corresponding to 4 themes: 1/ the adaptation of maternal behaviors (physical activity, psychoactive agents); 2/ dietary behaviors; 3/ household exposure to toxic substances (household uses, cosmetics); 4/ promotion of child health (breastfeeding, attachment and bonding, screen use, sudden unexplained infant death, and shaken baby syndrome). We suggest a ranking to prioritize the different preventive messages for each period, to take into account professionals' time constraints.


Assuntos
Exercício Físico , Pais , Criança , Feminino , Humanos , Universidades
5.
Ann Phys Rehabil Med ; 65(5): 101627, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34986401

RESUMO

BACKGROUND: Childhood severe traumatic brain injury (TBI) is a leading cause of long-lasting acquired disability, but predicting long-term functional outcome remains difficult. OBJECTIVES: This study aimed to 1) describe the functional outcome at 1 and 7 years post-TBI; 2) determine the initial and concurrent factors associated with long-term outcome; and 3) evaluate the predictive value of functional status, overall disability level and intellectual ability measured at 1 year post-injury to determine 7-year clinically meaningful outcomes. METHODS: Among the children (<16 years) consecutively included over 3 years in the Traumatisme Grave de l'Enfant (TGE) prospective longitudinal cohort study after accidental severe TBI, we studied the outcomes of 39 survivors at 1 and 7 years post-injury. Overall outcome included disability level (Glasgow Outcome Scale), functional status (Pediatric Injury Functional Outcome Scale), intellectual ability (Wechsler scales), executive functions (Behavior Rating Inventory of Executive Functions), behavior (Child Behavior Checklist) as well as neurological impairments and academic status. RESULTS: Mean (SD) age of the 39 survivors at injury was 7.6 (4.6) years, and long-term evaluation was conducted at a mean of 7.8 years post-injury (range 5.9-9.3); 36% of participants were adults (≥18 years old). Most of the neurological impairments remained stable beyond 1 year after TBI, whereas overall disability level improved significantly from 1 to 7 years but remained highly variable, with almost half of participants presenting significant disability levels (moderate: 26%, or severe: 21%). Almost half of participants had significant cognitive, behavior and/or academic difficulties at 7 years post-TBI. On multivariate regression analysis, functional impairment at 1 year was the best predictor of severe disability at 7 years (F(3,31)=13.18, p < 0.001, sensitivity=100%, specificity=78%). CONCLUSIONS: Our results confirm the significant long-term impact of childhood severe TBI. All children with TBI should benefit from systematic follow-up, especially those with persistent functional deficits at 1 year post-injury, because the severity of functional impairment at 1 year seems the best predictor of long-term significant disability up to 7 years post-TBI.


Assuntos
Lesões Encefálicas Traumáticas , Estado Funcional , Adolescente , Adulto , Criança , Estudos de Coortes , Humanos , Estudos Longitudinais , Estudos Prospectivos
6.
J Neuropsychol ; 16(1): 183-210, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33856121

RESUMO

OBJECTIVE: To explore memory functioning 7 years after severe paediatric traumatic brain injury (TBI), associated factors, and relationships with other outcomes. METHOD: Children aged 0-15 years (n = 65), consecutively admitted over a 3-year period in a single trauma centre, who survived after severe non-inflicted TBI, were included in a prospective longitudinal study. Memory assessments were performed 7 years post-injury using the Children's Memory Scale or the Wechsler Memory Scale (WMS IV), according to age. The General Memory Score (GMS-7) was the primary outcome. RESULTS: Thirty-seven patients were available for assessment at 7 years post-injury. Mean GMS-7 was in the low average range (M = 84.9, SD = 12.1). Lower GMS-7 was significantly associated with markers of higher injury severity, such as length of coma. One year post-injury functional and disability outcomes explained 74% of the variance of GMS-7. Concurrent intellectual ability and type of ongoing education correlated strongly with GMS-7. Age at injury and parental education were not associated with memory outcome. CONCLUSIONS: Memory functioning is variable but often strongly impaired several years after severe paediatric TBI, and is mostly related to injury severity, functional outcomes measured 1 year post-injury, and concomitant cognitive and educational outcomes. GMS-7 was lower at 7 years than one year post-injury, supporting the importance of long term follow-up.


Assuntos
Lesões Encefálicas Traumáticas , Lesões Encefálicas , Lesões Encefálicas/complicações , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/psicologia , Criança , Humanos , Estudos Longitudinais , Pais , Estudos Prospectivos
7.
Clin Genet ; 100(3): 329-333, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34037256

RESUMO

Arthrogryposis describes the presence of multiple joint-contractures. Clinical severity of this phenotype is variable, and more than 400 causative genes have been proposed. Among these, ERGIC1 is a recently reported candidate encoding a putative transmembrane protein of the ER-Golgi interface. Two homozygous missense variants have been reported in patients with relatively mild non-syndromic arthrogryposis. In a consanguineous family with two affected siblings presenting congenital arthrogryposis and some facial dysmorphism we performed prenatal array-CGH, postnatal targeted exome and genome sequencing. Genome sequencing identified a homozygous 22.6 Kb deletion encompassing the promoter and first exon of ERGIC1. mRNA quantification showed the complete absence of ERGIC1 expression in the two affected siblings and a decrease in heterozygous parents. Our observations validate the pathogenic role of ERGIC1 in congenital arthrogryposis and demonstrate that complete loss of function causes a relatively mild phenotype. These findings will contribute to improve genetic counseling of ERGIC1 mutations.


Assuntos
Artrogripose/genética , Proteínas de Transporte Vesicular/genética , Consanguinidade , Homozigoto , Humanos , Lactente , Mutação com Perda de Função , Perda de Heterozigosidade , Masculino , Regiões Promotoras Genéticas/genética , Análise Serial de Proteínas , RNA Mensageiro , Sequenciamento do Exoma
8.
Hum Mutat ; 42(4): 373-377, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33492714

RESUMO

Bi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have been reported in the literature but never fully described nor their pathogenicity assessed. Here, we report two unrelated patients with moderate hearing-loss, who were compound heterozygotes for a converted allele and a deletion of OTOA. The conversions were initially detected through sequencing depths anomalies at the OTOA locus after exome sequencing, then confirmed with long range polymerase chain reactions. Both conversions lead to loss-of-function by introducing a premature stop codon in exon 22 (p.Glu787*). Using genomic alignments and long read nanopore sequencing, we found that the two probands carry stretches of converted DNA of widely different lengths (at least 9 kbp and around 900 bp, respectively).


Assuntos
Surdez , Proteínas Ligadas por GPI , Perda Auditiva , Alelos , Surdez/genética , Proteínas Ligadas por GPI/genética , Conversão Gênica , Perda Auditiva/genética , Humanos , Linhagem , Sequenciamento do Exoma
9.
Ann Phys Rehabil Med ; 64(1): 101375, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32275965

RESUMO

BACKGROUND: Childhood severe traumatic brain injury (TBI) is a leading cause of long-lasting acquired disability, but little is known about functional outcome. OBJECTIVE: We aimed to 1) study clinical recovery and functional outcome over 24 months after severe childhood TBI, 2) identify early sociodemographic and severity factors influencing outcome, and 3) examine the clinical utility of the Pediatric Injury Functional Outcome Scale (PIFOS) to assess functional outcome. METHODS: Children (0-15 years) consecutively admitted in a trauma centre after accidental severe TBI over 3 years were included in a prospective longitudinal study (Traumatisme Grave de l'Enfant cohort). We measured clinical/neurological recovery, functional status (Pediatric Injury Functional Outcome Scale, [PIFOS]), overall disability (pediatric Glasgow Outcome Scale [GOS-Peds]) as well as intellectual ability (Wechsler scales) and educational outcome (mainstream school vs special education) of survivors at 1, 3, 12 and 24 months post-injury. RESULTS: For 45 children (aged 3 to 15 years at injury), functional impairments were severe within the first 3 months. Despite the initial rapid clinical recovery and significant improvement over the first year, substantial alterations persisted for most children at 12 months post-TBI, with no significant improvement up to 2 years. Up to 80% of children still had moderate or severe overall disability (GOS-Peds) at 24 months. The severity of functional impairments (PIFOS) at 12 and 24 months was mostly related to socio-emotional, cognitive and physical impairments, and was significantly correlated with clinical/neurological deficits and cognitive (intellectual, executive) and behavioural disorders. Initial TBI severity was the main prognostic factor associated with functional status over the first 2 years post-injury. CONCLUSIONS: Our results confirm the significant impact of severe childhood TBI on short- and medium-term functional outcomes and overall disability. All patients should benefit from systematic follow-up. The PIFOS appeared to be an accurate and reliable tool to assess functional impairment evolution and clinically meaningful outcomes over the first 2 years post-injury.


Assuntos
Lesões Encefálicas Traumáticas , Avaliação da Deficiência , Desempenho Físico Funcional , Adolescente , Lesões Encefálicas Traumáticas/fisiopatologia , Criança , Pré-Escolar , Escala de Resultado de Glasgow , Humanos , Estudos Longitudinais , Estudos Prospectivos , Recuperação de Função Fisiológica
10.
Qual Life Res ; 29(2): 515-528, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31549364

RESUMO

PURPOSE: To investigate self- and parent-reported Health-Related Quality-of-Life (HRQoL) and their associations after severe childhood traumatic brain injury (TBI) in the Traumatisme Grave de l'Enfant (TGE) cohort. METHODS: Self- (n = 34) and/or parent-reports (n = 25) of HRQoL were collected for 38 participants (age 7-22 years) 7 years after severe childhood TBI. The collected data included sociodemographic characteristics, injury severity indices, and overall disability and functional outcome at 3-months, 1- and 2-years post-injury. At 7-years post-injury, data were collected in the TBI group and in a control group (n = 33): overall disability (Glasgow Outcome Scale Extended), intellectual ability (IQ), and questionnaires assessing HRQoL (Pediatric Quality of Life Inventory), executive functions (Behavior Rating Inventory of Executive Functions), behavior (Child Behavior Checklist), fatigue (Multidimensional Fatigue Scale) and participation (Child and Adolescent Scale of Participation). RESULTS: Parent- and self-reports of HRQoL were significantly lower in the TBI group than in the control group. Parent-rated HRQoL was not associated with objectively assessed factors, whereas self-reported HRQoL was associated with gender (worse in females) and initial functional outcome. All questionnaire scores completed by the same informant (self or parent) were strongly inter-correlated. CONCLUSIONS: Reported HRQoL 7-years after severe childhood TBI is low compared to controls, weakly or not-related to objective factors, such as injury severity indices, clinically assessed functional outcomes, or IQ, but strongly related to reports by the same informant of executive deficits, behavior problems, fatigue, and participation.


Assuntos
Lesões Encefálicas Traumáticas/psicologia , Qualidade de Vida/psicologia , Autorrelato , Adolescente , Adulto , Criança , Estudos de Coortes , Pessoas com Deficiência , Função Executiva/fisiologia , Família , Fadiga/psicologia , Feminino , Humanos , Masculino , Pais/psicologia , Estudos Prospectivos , Inquéritos e Questionários , Índices de Gravidade do Trauma , Adulto Jovem
11.
Ann Phys Rehabil Med ; 63(4): 270-279, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31605766

RESUMO

OBJECTIVES: Severe childhood traumatic brain injury (TBI) leads to long-standing executive function and attention deficits, with negative consequences for participation, academic outcome and independence. This study aimed to assess executive function and attention 7 years after severe childhood TBI in comparison with a matched control group and to investigate associated factors. METHODS: Children (<15years) with severe accidental TBI consecutively admitted in a single trauma center over 3years were included in the Traumatisme Grave de l'Enfant (TGE) prospective longitudinal study. Of the 81children initially included, 65survived. At 7years post-TBI, executive functions and attention were assessed in 27participants (42 % of the 65 survivors) by using a combination of computerized tasks from the Test of Attentional Performance (TAP) and the Behavioral Rating of Executive Functions (BRIEF) questionnaire. Patients were compared to a group of 27typically developing controls who were matched for sex, age and parental education level. RESULTS: Among the 27participants, mean (SD) age at injury was 7.7 (4.6)years, and mean length of coma 5.6 (4.6) days. Regarding the TAP, the number of errors was significantly higher (P=0.003) and reaction time marginally slower (P=0.08) in the TBI than control group. The BRIEF questionnaire completed by parents indicated significantly more executive difficulties in the TBI than control group (Behavior Regulation Index, P=0.005; Metacognitive index, P=0.02; Global Executive Composite, P=0.012). Correlations between BRIEF and TAP scores did not reach statistical significance. BRIEF total score was correlated moderately with length of coma (r=0.40, P=0.037), and TAP scores were correlated with the Full-Scale Intellectual Quotient (total number of errors: r=-0.48; P=0.01; mean reaction time: r=-0.51; P=0.009). CONCLUSIONS: Executive and attention deficits were evident 7 years after severe childhood TBI. Computerized tasks and questionnaires provide complementary and non-redundant information. Systematic long-term follow-up should be provided until the transition to adulthood, to assess ongoing development and to implement timely tailored interventions.


Assuntos
Atenção , Lesões Encefálicas Traumáticas/psicologia , Função Executiva , Transtornos do Neurodesenvolvimento/epidemiologia , Sobreviventes/psicologia , Adolescente , Lesões Encefálicas Traumáticas/complicações , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , França/epidemiologia , Escala de Coma de Glasgow , Humanos , Estudos Longitudinais , Masculino , Transtornos do Neurodesenvolvimento/etiologia , Testes Neuropsicológicos , Estudos Prospectivos , Fatores de Tempo
12.
J Head Trauma Rehabil ; 35(2): 104-116, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31246880

RESUMO

OBJECTIVE: To investigate presence of and factors associated with self- and parent-reported fatigue 7 years after severe childhood traumatic brain injury (TBI) in the prospective longitudinal study TGE (Traumatisme Grave de l'Enfant-severe childhood trauma). METHODS: Self-reports and/or parent reports on the Multidimensional Fatigue Scale were collected for 38 participants (aged 7-22 years) 7 years after severe childhood TBI, and 33 controls matched for age, gender, and parental educational level. The data collected included sociodemographic characteristics, age at injury and injury severity scores, overall disability (Glasgow Outcome Scale Extended), intellectual outcome (Wechsler scales), and questionnaires assessing executive functions, health-related quality of life, behavior, and participation. RESULTS: Fatigue levels were significantly worse in the TBI than in the control group, especially for cognitive fatigue. Correlations of reported fatigue with age at injury, gender, TBI severity, and intellectual ability were moderate and often not significant. Fatigue was significantly associated with overall level of disability (Glasgow Outcome Scale Extended) and with all questionnaires completed by the same informant. CONCLUSION: High levels of fatigue were reported by 30% to 50% of patients 7 years after a severe childhood TBI. Reported fatigue explained more than 60% of the variance of reported health-related quality of life by the same informant (patient or parent).


Assuntos
Lesões Encefálicas Traumáticas , Fadiga , Adolescente , Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/diagnóstico , Lesões Encefálicas Traumáticas/epidemiologia , Criança , Fadiga/epidemiologia , Fadiga/etiologia , Humanos , Escala de Gravidade do Ferimento , Estudos Longitudinais , Pais , Estudos Prospectivos , Qualidade de Vida , Autorrelato , Adulto Jovem
13.
Disabil Rehabil ; 42(17): 2402-2411, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-30950661

RESUMO

Purpose: Participation in home, school and community activities is considered as the ultimate aim of rehabilitation. The aims of this study were to examine participation seven years post-severe childhood traumatic brain injury and factors associated with participation.Materials and methods: Participants were enrolled in the Traumatisme Grave de l'Enfant (Severe Childhood Injury) cohort study following severe accidental childhood traumatic brain injury. Participation seven years post-injury, was examined using parent- and self-report forms of the Child and Adolescent Scale of Participation among 37 patients [62% males, mean age 15.4 years (SD = 4.4), mean length of coma 6.68 days (SD = 4.96)] and 33 matched controls.Results: Parent reports indicated significantly lower participation among patients compared to controls, but the self-reports did not. In the traumatic brain injury group, parent-reported participation was variable, with 22% of the patients clearly showing greater restrictions than controls. Participation restrictions were significantly associated with injury severity, poor functional outcome one-year post-injury, executive and behavioral difficulties and higher fatigue levels seven years post-injury, but not with pre-injury nor family factors.Conclusions: Several years after severe childhood traumatic brain injury, participation appears to depend more on injury-related factors than on environmental factors. In self-reports assessments of participation, it could be difficult for children and adolescents to distinguish capacity from performance.Implications for rehabilitationParticipation outcomes were highly variable in a sample of patients who sustained severe childhood traumatic brain injury.Participation should be assessed systematically following severe traumatic brain injury, both initially but also in the long-term, ideally using a combination of self- and proxy-report measures.Among patients with severe injuries, the influence of initial brain injury severity markers on participation seems much stronger than that of social/family environment factors.Children's and adolescents' self-reported participation assessed with the Child and Adolescent Scale of Participation may be difficult to interpret.


Assuntos
Lesões Encefálicas Traumáticas , Lesões Encefálicas , Adolescente , Criança , Estudos de Coortes , Feminino , Humanos , Masculino , Estudos Prospectivos , Autorrelato
14.
Brain Inj ; 33(9): 1208-1218, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31237456

RESUMO

The aims of this study were (1) to prospectively measure memory functioning following severe childhood Traumatic Brain Injury (TBI), and its evolution over 2 years; (2) to assess demographic and medical factors associated with memory function and recovery; (3) to explore relations between memory and other TBI outcomes. Methods: Children (aged 0-15 years; n= 65) consecutively admitted in a single trauma center over a 3-year period, who survived severe non-inflicted TBI, were included in a prospective longitudinal study. Memory was assessed in 38 children aged 5-15 years at injury, using the Children's Memory Scale at 3, 12, and 24 months post-injury. Results: Mean general memory score was low at 3 months (M = 90.2, SD = 20.3) but within the normal range at 12 and 24 months (M = 100.6, SD = 23.1 and M = 108.6, SD = 24.1, respectively), with high variability. Improvement was stronger for immediate visual memory than for other memory indices. Lower general memory score was associated with higher injury severity, lower intellectual ability and functional status, higher overall disability, and ongoing education. Conclusion: Memory functioning is highly variable following severe childhood TBI, related to injury severity and functional, cognitive and educational outcomes; improvement is significant during the first-year post-injury, but varies according to the type of memory.


Assuntos
Lesões Encefálicas Traumáticas/complicações , Lesões Encefálicas Traumáticas/psicologia , Transtornos da Memória/etiologia , Transtornos da Memória/psicologia , Memória , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Avaliação da Deficiência , Avaliação Educacional , Feminino , Escala de Coma de Glasgow , Humanos , Lactente , Testes de Inteligência , Estudos Longitudinais , Masculino , Testes Neuropsicológicos , Estudos Prospectivos , Recuperação de Função Fisiológica , Resultado do Tratamento , Percepção Visual
15.
Brain Inj ; 33(8): 1105-1115, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31165657

RESUMO

Objective: The aim of this study was to assess long-term outcomes in terms of oral language, intellectual ability, education, following very early moderate-to-severe TBI. Methods: Children who had been hospitalized in rehabilitation after moderate-to-severe TBI sustained before 18 months of age were contacted once they had reached school age. Detailed oral language and intellectual ability assessment were performed, and information on ongoing education was collected. Results: 52 children met inclusion criteria; 21 (40.4%) participated [13 males, mean age 7.5 years (SD = 1.9), age at injury 0.7 years (SD = 0.5), time since injury 6.8 years (SD = 1.8)]. Performance was in the clinical range (<-2SD) for: syntactic comprehension (67%; mean z-scores -2.6; SD = 3.1), syntactic expression (62%; -2.1; SD = 1.3), lexical stock extent (57%; -1.5; SD = 1.5), lexical access skills (48%; -1.9; SD = 2), and semantic organization (32%; -0.9; SD = 1.2). Full-scale IQ was <90 for 91%. Only eight children followed mainstream education without adaptations. Performance on all language tests (except lexical stock extent) was significantly poorer for children with a personal school aid or those in specialized education. Conclusions: Early moderate-to-severe TBI causes significant delayed language (especially syntactic aspects of language) and cognitive disabilities, with consequences on long-term educational outcome. These children require long-term follow-up and timely interventions.


Assuntos
Concussão Encefálica/diagnóstico , Concussão Encefálica/psicologia , Escolaridade , Idioma , Testes Neuropsicológicos , Fatores Etários , Lesões Encefálicas Traumáticas/diagnóstico , Lesões Encefálicas Traumáticas/psicologia , Criança , Feminino , Seguimentos , Humanos , Lactente , Testes de Linguagem , Masculino , Estudos Retrospectivos
17.
Dev Neurorehabil ; 21(2): 83-90, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-27841719

RESUMO

OBJECTIVE: To study the long-term outcomes following childhood ischemic and hemorrhagic stroke. METHODS: This was a retrospective study, looking at children consecutively admitted to a rehabilitation department following childhood stroke. We collected demographic, medical, and severity data, motor deficit, cognitive assessment, and long-term academic outcome. RESULTS: One hundred and twenty-eight children were included, following arterial ischemic (AIS; n = 46) or hemorrhagic (HS; n = 82) stroke. At discharge, motor deficit was still present in 70% of children (versus 89% immediately after stroke). HS predicted significantly better motor and functional outcomes than AIS. After a median follow-up of 43 months, 40% received special education. The receipt of special education was predicted by persistent motor deficit, but when full-scale IQ was taken into account, IQ was the only significant predictor of special education. CONCLUSIONS: Childhood stroke leads to severe and long lasting motor, functional, cognitive, and academic impairments, in a population of children admitted in a rehabilitation department.


Assuntos
Isquemia Encefálica/reabilitação , Crianças com Deficiência/reabilitação , Hemorragias Intracranianas/reabilitação , Reabilitação do Acidente Vascular Cerebral/métodos , Sucesso Acadêmico , Criança , Crianças com Deficiência/educação , Feminino , Humanos , Locomoção , Masculino , Destreza Motora , Centros de Reabilitação/estatística & dados numéricos
19.
Genetics ; 206(3): 1361-1372, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28533439

RESUMO

The effect of gene location within a crop genome on its transfer to a weed genome remains an open question for gene flow assessment. To elucidate this question, we analyzed advanced generations of intergeneric hybrids, derived from an initial pollination of known oilseed rape varieties (Brassica napus, AACC, 2n = 38) by a local population of wild radish (Raphanus raphanistrum, RrRr, 2n = 18). After five generations of recurrent pollination, 307 G5 plants with a chromosome number similar to wild radish were genotyped using 105 B. napus specific markers well distributed along the chromosomes. They revealed that 49.8% of G5 plants carried at least one B. napus genomic region. According to the frequency of B. napus markers (0-28%), four classes were defined: Class 1 (near zero frequency), with 75 markers covering ∼70% of oilseed rape genome; Class 2 (low frequency), with 20 markers located on 11 genomic regions; Class 3 (high frequency), with eight markers on three genomic regions; and Class 4 (higher frequency), with two adjacent markers detected on A10. Therefore, some regions of the oilseed rape genome are more prone than others to be introgressed into wild radish. Inheritance and growth of plant progeny revealed that genomic regions of oilseed rape could be stably introduced into wild radish and variably impact the plant fitness (plant height and seed number). Our results pinpoint that novel technologies enabling the targeted insertion of transgenes should select genomic regions that are less likely to be introgressed into the weed genome, thereby reducing gene flow.


Assuntos
Brassica/genética , Fluxo Gênico , Genes de Plantas , Raphanus/genética , Aptidão Genética , Hibridização Genética , Plantas Daninhas/genética
20.
Ann Phys Rehabil Med ; 60(2): 74-82, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27566925

RESUMO

BACKGROUND: Executive function (EF) impairment is a major predictor of overall outcome after traumatic brain injury (TBI). TBI severity is a factor of poor outcome, but most studies include a majority of children with mild and moderate TBI. The aims of this study were to estimate EF impairment after severe childhood TBI and to explore factors predicting EF outcome. The secondary aim was to compare recovery trajectories by age-at-injury groups. METHODS: This was a prospective longitudinal study of children with severe TBI who were tested for EFs by performance-based tests and questionnaires at 3, 12 and 24 months. RESULTS: Children with TBI (n=65) showed significant impairment in working memory, inhibition, attention and global EF, with little or no recovery at 24 months. For flexibility and performance-based EF score, children were impaired at 3 months only and showed normal scores by 12 months. No impairment was found in planning. At 3 and 24 months, Glasgow Coma Scale score and parental education predicted global EF. Coma length was not a significant predictor of outcome. Age at injury predicted progress in EF, but the relationship was not linear; children 10-12 years old at injury showed better outcome than older and younger children. CONCLUSIONS: EFs are impaired after severe TBI in childhood. The relationship between age at injury and outcome is not linear. Relying on only performance-based EF tests can underestimate EF impairment.


Assuntos
Lesões Encefálicas Traumáticas/psicologia , Função Executiva , Adolescente , Fatores Etários , Criança , Pré-Escolar , Feminino , Escala de Coma de Glasgow , Humanos , Lactente , Recém-Nascido , Escala de Gravidade do Ferimento , Estudos Longitudinais , Masculino , Estudos Prospectivos , Fatores de Tempo
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