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1.
Stroke ; 53(12): 3780-3789, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36252123

RESUMO

Over the past 15 years, there have been significant advances in the treatment of acute and chronic medical consequences of stroke in childhood. Given high rates of survival in pediatric stroke, practitioners are tasked with treating the ongoing motor and neuropsychological sequelae in patients over the course of their development. This article provides a review of the current literature on neuropsychological outcomes in pediatric stroke, including intelligence, academics, language, visual-spatial skills, attention, executive functions, memory, and psychosocial function. Recent developments in functional neuroimaging are discussed, with a particular focus on language outcomes. We further review the current research on cognitive and behavioral rehabilitation and introduce intervention models in pediatric stroke. In the final section, we discuss future directions for clinical practice and research in pediatric stroke.


Assuntos
Reabilitação do Acidente Vascular Cerebral , Acidente Vascular Cerebral , Criança , Humanos , Testes Neuropsicológicos , Função Executiva , Atenção , Idioma , Cognição , Reabilitação do Acidente Vascular Cerebral/métodos
2.
Am J Med Genet C Semin Med Genet ; 184(2): 469-481, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32519473

RESUMO

Few studies have systematically assessed executive functioning (EF) skills in boys with XXY, and these are limited by small samples and restricted EF assessment. This study used a broader battery of performance-based measures as well as parent-rating scales of EF in 77 boys and adolescents with XXY (mean age = 12.5 years), recruited from a clinical trial and an outpatient clinic. Exploratory factor analyses were used to create EF domains from performance-based measures, and similar domains were measured using the Behavior Rating Inventory of Executive Function and Conners Parent-Rating Scales. The boys with XXY showed a distinct EF profile, with the greatest deficit in attention and more moderate deficits in working memory, switching, and planning/problem solving. Parent ratings showed similar challenges, as well as impaired inhibition. Independent sample t-tests showed no difference on performance measures between boys diagnosed or not diagnosed with attention-deficit/hyperactivity disorder (ADHD), although parents of boys diagnosed with ADHD reported more difficulties. There were no differences on performance-based tests between those diagnosed pre- and postnatally, although parents of postnatally diagnosed boys reported more metacognitive problems. Language deficits, cognition, and socio-economic status did not account for EF deficits.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Cognição/fisiologia , Função Executiva/fisiologia , Memória de Curto Prazo/fisiologia , Adolescente , Atenção/fisiologia , Criança , Feminino , Humanos , Inibição Psicológica , Masculino , Testes Neuropsicológicos , Pais/psicologia
3.
Am J Med Genet C Semin Med Genet ; 184(2): 414-427, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32449585

RESUMO

Sex chromosome aneuploidies (SCAs) are the most commonly occurring aneuploidies in children with a collective prevalence rate of 1 in 500 live births. Prior research has documented SCAs are associated with an increased risk for early expressive language and gross motor delays, learning disorders, ADHD, autism spectrum disorder, anxiety, and executive function problems. Although SCAs have been historically underdiagnosed in young children, recent advances in noninvasive prenatal testing have resulted in an increasing nationwide cohort of infants with confirmed diagnoses. Consequently, early childhood support systems must prepare for an influx of children with known risks for associated developmental delays and potential school problems. This national survey aimed to update our understanding of current early childhood intervention services for young children with SCA in the United States and to describe parent perspectives and priorities. Descriptive statistics, chi-square tests, and logistic regression models controlling for parent education revealed a majority of respondents reported receiving public early childhood intervention services with speech therapy as the most common service. There were significant differences in early childhood intervention services by timing of diagnosis (prenatal vs. postnatal), number of sex chromosomes (trisomy vs. tetra/pentasomy), and geographic location. Parents described interventions as desirable and effective yet also difficult to obtain due to issues with the SCA phenotype, lack of provider knowledge, and challenges navigating the intervention systems. Results support the need for enhanced provider training in SCAs, policy change for early childhood intervention qualification criteria for SCA conditions, and collaboration between medical and early childhood settings.


Assuntos
Transtorno do Espectro Autista/epidemiologia , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/epidemiologia , Cromossomos Sexuais/genética , Aneuploidia , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/genética , Transtorno do Espectro Autista/patologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Cariotipagem , Masculino , Gravidez , Diagnóstico Pré-Natal , Transtornos dos Cromossomos Sexuais/diagnóstico , Transtornos dos Cromossomos Sexuais/genética , Transtornos dos Cromossomos Sexuais/patologia
4.
J Med Genet ; 56(8): 557-566, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30995994

RESUMO

BACKGROUND: Rapid automatised naming (RAN) and rapid alternating stimulus (RAS) are reliable predictors of reading disability. The underlying biology of reading disability is poorly understood. However, the high correlation among RAN, RAS and reading could be attributable to shared genetic factors that contribute to common biological mechanisms. OBJECTIVE: To identify shared genetic factors that contribute to RAN and RAS performance using a multivariate approach. METHODS: We conducted a multivariate genome-wide association analysis of RAN Objects, RAN Letters and RAS Letters/Numbers in a sample of 1331 Hispanic American and African-American youth. Follow-up neuroimaging genetic analysis of cortical regions associated with reading ability in an independent sample and epigenetic examination of extant data predicting tissue-specific functionality in the brain were also conducted. RESULTS: Genome-wide significant effects were observed at rs1555839 (p=4.03×10-8) and replicated in an independent sample of 318 children of European ancestry. Epigenetic analysis and chromatin state models of the implicated 70 kb region of 10q23.31 support active transcription of the gene RNLS in the brain, which encodes a catecholamine metabolising protein. Chromatin contact maps of adult hippocampal tissue indicate a potential enhancer-promoter interaction regulating RNLS expression. Neuroimaging genetic analysis in an independent, multiethnic sample (n=690) showed that rs1555839 is associated with structural variation in the right inferior parietal lobule. CONCLUSION: This study provides support for a novel trait locus at chromosome 10q23.31 and proposes a potential gene-brain-behaviour relationship for targeted future functional analysis to understand underlying biological mechanisms for reading disability.


Assuntos
Negro ou Afro-Americano/genética , Dislexia/genética , Genoma Humano , Estudo de Associação Genômica Ampla , Genômica , Hispânico ou Latino/genética , Alelos , Biologia Computacional/métodos , Dislexia/diagnóstico , Epigênese Genética , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla/métodos , Genômica/métodos , Humanos , Desequilíbrio de Ligação , Masculino , Metanálise como Assunto , Neuroimagem , Polimorfismo de Nucleotídeo Único , Característica Quantitativa Herdável
5.
Sci Stud Read ; 23(3): 254-272, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32523329

RESUMO

The causes that individuals attribute to reading outcomes shape future behaviors, including engagement or persistence with learning tasks. Although previous reading motivation research has examined differences between typical and struggling readers, there may be unique dynamics related to varying levels of reading and attention skills. Using latent profile analysis, we found 4 groups informed by internal attributions to ability and effort. Reading skills, inattention, and hyperactivity/impulsivity were investigated as functional correlates of attribution profiles. Participants were 1,312 youth (8-15 years of age) of predominantly African American and Hispanic racial/ethnic heritage. More adaptive attribution profiles had greater reading performance and lower inattention. The reverse was found for the least adaptive profile with associations to greater reading and attention difficulties. Distinct attribution profiles also existed across similar-achieving groups. Understanding reading-related attributions may inform instructional efforts in reading. Promoting adaptive attributions may foster engagement with texts despite learning difficulties and, in turn, support reading achievement.

6.
Read Res Q ; 53(1): 127-148, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29391653

RESUMO

The present study investigated the relation among reading skills and attributions, naming speed, and phonological awareness across a wide range of reading skill. Participants were 1,105 school-age children and youths from two understudied populations: African Americans and Hispanic Americans. Individual assessments of children ranging in age from 8 to 15 years were conducted for reading outcomes, cognitive and linguistic predictors of reading, and attributions for success and failure in reading situations. Quantile regressions were formulated to estimate these relations across the full skill span of each outcome. Reading-related attributions predicted contextual word recognition, sight word and decoding fluency, and comprehension skills. Attributions to ability in success situations were positively related to each outcome across the full span. On three reading outcomes, this relation strengthened at higher skill levels. Attributions to effort in success situations were consistently and negatively related to all reading outcomes. The results provide evidence that the strength of the relation between reading and attributions varies according to reading skill levels, with the strongest evidence for ability-based attributions in situations of reading success.

7.
Learn Individ Differ ; 64: 8-21, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-32523322

RESUMO

The causal attributions that children make for success and failure have been associated with later reading motivation and ability perceptions, which have the potential to impact future task engagement. Few studies have investigated whether such attributions are domain specific, that is linked with the specific skill in question, or a general motivational set. Even fewer studies have examined these relationships among diverse racial and ethnic subgroups. The present study examined differences in success and failure attributions among children with and without reading delay (RD) and general language impairments (LI), in a predominately Hispanic and African American sample. Participants were 1311 children, 8 to 15 years old. Significant differences in ability attributions were observed between participants with and without RD and LI, with no additive effect for cases with co-occurring reading and language impairments. When reading and vocabulary were evaluated continuously, significant and substantial positive relationships were observed between skill and ability attributions in situations of success, and negative associations observed in situations of failure. Weaker relationships were observed for vocabulary, though vocabulary did function as a moderator in the relationship between reading skill and ability attributions, with stronger associations at higher vocabulary levels. Overall, the findings suggest that ability attributions for reading success and failure are linked with reading skill and/or deficits, and not with general language impairments.

8.
Stroke ; 47(10): 2443-9, 2016 10.
Artigo em Inglês | MEDLINE | ID: mdl-27633024

RESUMO

BACKGROUND AND PURPOSE: There are limited data about the reliability of subtype classification in childhood arterial ischemic stroke, an issue that prompted the IPSS (International Pediatric Stroke Study) to develop the CASCADE criteria (Childhood AIS Standardized Classification and Diagnostic Evaluation). Our purpose was to determine the CASCADE criteria's reliability in a population of children with stroke. METHODS: Eight raters from the IPSS reviewed neuroimaging and clinical records of 64 cases (16 cases each) randomly selected from a prospectively collected cohort of 113 children with arterial ischemic stroke and classified them using the CASCADE criteria. Clinical data abstracted included history of present illness, risk factors, and acute imaging. Agreement among raters was measured by unweighted κ statistic. RESULTS: The CASCADE criteria demonstrated a moderate inter-rater reliability, with an overall κ statistic of 0.53 (95% confidence interval [CI]=0.39-0.67). Cardioembolic and bilateral cerebral arteriopathy subtypes had much higher agreement (κ=0.84; 95% CI=0.70-0.99; and κ=0.90; 95% CI=0.71-1.00, respectively) than cases of aortic/cervical arteriopathy (κ=0.36; 95% CI=0.01-0.71), unilateral focal cerebral arteriopathy of childhood (FCA; κ=0.49; 95% CI=0.23-0.76), and small vessel arteriopathy of childhood (κ=-0.012; 95% CI=-0.04 to 0.01). CONCLUSIONS: The CASCADE criteria have moderate reliability when used by trained and experienced raters, which suggests that it can be used for classification in multicenter pediatric stroke studies. However, the moderate reliability of the arteriopathic subtypes suggests that further refinement is needed for defining subtypes. Such revisions may reduce the variability in the literature describing risk factors, recurrence, and outcomes associated with childhood arteriopathy.


Assuntos
Isquemia Encefálica/diagnóstico , Doenças Arteriais Cerebrais/diagnóstico , Acidente Vascular Cerebral/diagnóstico , Isquemia Encefálica/classificação , Isquemia Encefálica/diagnóstico por imagem , Doenças Arteriais Cerebrais/classificação , Doenças Arteriais Cerebrais/diagnóstico por imagem , Criança , Estudos Transversais , Humanos , Neuroimagem , Reprodutibilidade dos Testes , Acidente Vascular Cerebral/classificação , Acidente Vascular Cerebral/diagnóstico por imagem
9.
Sci Stud Read ; 18(6): 383-394, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25642131

RESUMO

Reversal errors play a prominent role in theories of reading disability. We examined reversal errors in the writing of letters by 5-6-year-old children. Of the 130 children, 92 had a history of difficulty in producing speech sounds, a risk factor for reading problems. Children were more likely to reverse letter forms that face left, such as 〈d〉 and 〈J〉, than forms that face right, such as 〈b〉 and 〈C〉. We propose that this asymmetry reflects statistical learning: Children implicitly learn that the right-facing pattern is more typical of Latin letters. The degree of asymmetry that a child showed was not related to the child's reading skill at Time 2, 2 ¾ years later. Although children who went on to become poorer readers made more errors in the letter writing task than children who went on to become better readers, they were no more likely to make reversal errors.

10.
J Pediatr ; 162(5): 1041-6.e1, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23260102

RESUMO

OBJECTIVE: To assess whether acute findings of cerebral arteriopathy, large infarct, and acutely elevated plasma D-dimer levels are independently prognostic of poor long-term neurologic outcome as measured at ≥ 1 year post-event in children with arterial ischemic stroke (AIS). STUDY DESIGN: Sixty-one patients with childhood-onset (ie, >28 days of life) AIS were enrolled in a single-institution cohort study at Children's Hospital Colorado between February 2006 and June 2011. Data on demographic and diagnostic characteristics, antithrombotic treatments, and outcomes were systematically collected. RESULTS: Cerebral arteriopathy and D-dimer levels >500 ng/mL (a measure of coagulation activation) were identified acutely in 41% and 31% of the cohort, respectively. Anticoagulation was administered in the acute period post-event in 40% of the children, in the subacute period in 43%, and in the chronic period in 28%. When not receiving anticoagulation, patients were routinely treated with aspirin 2-5 mg/kg once daily for a minimum of 1 year. Death, major bleeding (including intracranial hemorrhage), and recurrent AIS were infrequent. The Pediatric Stroke Outcome Measure at 1 year demonstrated poor outcome in 54% of the children. Acute cerebral arteriopathy and elevated D-dimer level were identified as putative prognostic factors for poor outcome; after adjustment for D-dimer, arteriopathy was an independent prognostic indicator (OR, 19.0; 95% CI, 1.6-229.8; P = .02). CONCLUSION: Arteriopathy and coagulation activation are highly prevalent in the acute period of childhood AIS. Although recurrent AIS and intracranial hemorrhage were infrequent in our cohort, one-half of children experienced a poor neurologic outcome at 1 year, the risk of which was increased by acute arteriopathy. Substantiation of these findings in multi-institutional cohort studies is warranted, toward risk stratification in childhood-onset AIS.


Assuntos
Transtornos da Coagulação Sanguínea/epidemiologia , Doenças Arteriais Cerebrais/diagnóstico , Produtos de Degradação da Fibrina e do Fibrinogênio/análise , Fibrinolíticos/uso terapêutico , Acidente Vascular Cerebral/diagnóstico , Transtornos da Coagulação Sanguínea/complicações , Doenças Arteriais Cerebrais/complicações , Doenças Arteriais Cerebrais/tratamento farmacológico , Estudos de Coortes , Colorado , Feminino , Fibrinolíticos/efeitos adversos , Humanos , Lactente , Masculino , Prognóstico , Recidiva , Fatores de Risco , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/tratamento farmacológico , Resultado do Tratamento
11.
Arch Clin Neuropsychol ; 38(3): 395-407, 2023 Apr 26.
Artigo em Inglês | MEDLINE | ID: mdl-36988444

RESUMO

OBJECTIVE: Epilepsy is one of the most common reasons for referral for a pediatric neuropsychological evaluation due its high prevalence in childhood and our well-established clinical role in tertiary care settings. Emerging evidence indicates that racial and ethnic minority populations experience increased epilepsy burden compared with White peers. Although there has been heightened recognition in our specialty regarding the dire need for culturally and linguistically responsive evaluations, the scientific evidence to support effective neuropsychological service delivery for bi/multilingual and bi/multicultural youth with epilepsy is comparatively scant and of poor quality. As a result, significant patient and clinical challenges exist, particularly in high stakes presurgical pediatric epilepsy evaluations of bi/multilingual and bi/multicultural children. METHOD: Given that Spanish is the most common language spoken in the United States after English, this paper will focus on Spanish and English measures, but will provide evidence-based practice considerations that can inform practices with other non-English speaking communities. Cultural and linguistic factors that affect clinical decision-making regarding test selection, test interpretation, and feedback with families are highlighted. RESULTS: We offer a review of neuropsychological profiles associated with pediatric epilepsy as well as a flexible, multimodal approach for the assessment of linguistically and culturally diverse children with epilepsy based on empirical evidence and the clinical experiences of pediatric neuropsychologists from diverse backgrounds who work with children with epilepsy. CONCLUSION: Limitations to this approach are discussed, including the lack of available measures and resources for culturally and linguistically diverse pediatric populations. A case illustration highlights a culturally informed assessment approach.


Assuntos
Etnicidade , Grupos Minoritários , Adolescente , Humanos , Criança , Estados Unidos , Testes Neuropsicológicos , Idioma , Prática Clínica Baseada em Evidências
12.
J Speech Lang Hear Res ; 65(6): 2081-2097, 2022 06 08.
Artigo em Inglês | MEDLINE | ID: mdl-35472280

RESUMO

PURPOSE: Speech sound disorder (SSD) in conjunction with a language disorder has been associated with poor literacy acquisition; however, no study has evaluated whether articulation, phonological, or sequencing skills are differentially related to reading skills. Therefore, this study examined the relationship between speech error types at ages 5-6 years and literacy at ages 7-9 years. Phonological errors were hypothesized to predict phonological awareness (PA) and literacy even while accounting for other speech error types and language skills. METHOD: One hundred twenty-three children, 86 with a history of speech impairment, completed a battery of speech, language, and literacy tests at ages 5-6 years and again at ages 7-9 years. Speech production at ages 5-6 years was analyzed, and indices of articulation errors, phonological errors, and sequencing deficits were obtained. The relationships of these error types to concurrent language and preliteracy skills and to later literacy outcomes were assessed. RESULTS: As expected, phonological, but not articulation, errors at ages 5-6 years predicted concurrent PA and letter knowledge, as well as literacy at ages 7-9 years, even while accounting for language skills. Surprisingly, of all the error types, sequencing deficits showed the strongest relationship with PA (ages 5-6 years) and literacy (ages 7-9 years). CONCLUSIONS: These results suggest that some components of SSD uniquely predict preliteracy and literacy skills, even when controlling for language ability. Future investigations should examine further the association between sequencing deficits and literacy skills, test whether observed relationships hold at younger ages, and evaluate the efficacy of integrating literacy interventions into speech therapy to reduce later reading difficulties. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.19624020.


Assuntos
Apraxias , Transtornos do Desenvolvimento da Linguagem , Transtorno Fonológico , Criança , Pré-Escolar , Humanos , Alfabetização , Fonética , Leitura , Fala
13.
Child Neuropsychol ; 28(2): 171-196, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34346838

RESUMO

Children with sex chromosome trisomy (SCT) are at increased risk for developing language difficulties. Earlier studies have reported that as many as 70-80% of individuals with SCT show some form of language difficulties. Language develops rapidly in the first years of life; knowledge about language development at an early age is needed. The present study aims to identify the language abilities of young children with SCT across multiple language domains and to identify the percentage of children that, according to clinical guidelines, have language difficulties. Children between the ages of 1-6-years (NSCT = 103, Ncontrols = 102) were included. Nonverbal communication, early vocabulary, semantic, syntax, and phonological skills were assessed. Language difficulties were already present in 1-year-old children with SCT and across the age range in various language domains. Clinical classification showed that, depending on the assessed domain, 14.8-50.0% of the children scored below the 16th percentile. There was no effect of time of diagnosis, ascertainment bias, research site, nor SCT specific karyotype (XXX, XXY, XYY) on language outcomes. Overall, language difficulties can already be present in very young children with SCT within various language domains. These findings appear to be robust within the SCT group. These results highlight the importance of monitoring both receptive and expressive language development already at the earliest stages of nonverbal communication. Finally, as early language skills are the building blocks for later social communication, literacy, and self-expression, studies that investigate the effect of early interventions on later language outcomes are warranted.


Assuntos
Cromossomos Sexuais , Trissomia , Criança , Pré-Escolar , Cognição , Estudos Transversais , Humanos , Lactente , Trissomia/genética , Vocabulário
14.
J Sch Psychol ; 93: 28-40, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35934449

RESUMO

Children with sex chromosome aneuploidies (SCAs) are at an increased risk for neurocognitive and behavioral disorders that may interfere with academic success, including early developmental delays, learning disabilities, executive function problems, and social communication deficits. The present national survey aimed to update and extend our understanding of school supports and educational outcomes for students with these increasingly common genetic diagnoses. Parents of children with a diagnosed SCA, birth to 21 years, living in the United States (N = 248), responded to an electronic survey with questions focused on school support plans, academic accommodations, educational therapies, school completion, and perceptions of educator awareness of SCAs. Results revealed high rates of delayed kindergarten, grade retention in primary years, and educational support plans (IEPs = 71%; Section 504 Plans = 26%). A majority (73%) of respondents with children over age 18 years (N = 41) reported their children successfully completed high school, and nearly half (46%) pursued post-secondary education opportunities. Many parents reported their children's educators had little to no knowledge of SCA conditions, justifying a need to train teachers and policy makers in the unique educational needs of children and adolescents with SCAs. School psychologists should be aware of the frequent need for accommodations and individualized support plans in this population so they can support children and families by advocating for early and comprehensive evaluations and intervention plans.


Assuntos
Cromossomos Sexuais , Estudantes , Adolescente , Aneuploidia , Criança , Escolaridade , Humanos , Inquéritos e Questionários , Estados Unidos
15.
Lancet Neurol ; 21(1): 31-41, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34942135

RESUMO

BACKGROUND: Down syndrome is a chromosomal disorder with considerable neurodevelopmental impact and neurodegenerative morbidity. In a pilot trial in young adults with Down syndrome, memantine (a drug approved for Alzheimer's disease) showed a significant effect on a secondary measure of episodic memory. We aimed to test whether memantine would improve episodic memory in adolescents and young adults with Down syndrome. METHODS: We did a randomised, double-blind, placebo-controlled phase 2 trial with a parallel design, stratified by age and sex. Participants (aged 15-32 years) with either trisomy 21 or complete unbalanced translocation of chromosome 21 and in general good health were recruited from the community at one site in Brazil and another in the USA. Participants were randomly assigned (1:1) to receive either memantine (20 mg/day orally) or placebo for 16 weeks. Computer-generated randomisation tables for both sites (allocating a placebo or drug label to each member of a unique pair of participants) were centrally produced by an independent statistician and were shared only with investigational pharmacists at participating sites until unblinding of the study. Participants and investigators were masked to treatment assignments. Neuropsychological assessments were done at baseline (T1) and week 16 (T2). The primary outcome measure was change from baseline to week 16 in the California Verbal Learning Test-second edition short-form (CVLT-II-sf) total free recall score, assessed in the per-protocol population (ie, participants who completed 16 weeks of treatment and had neuropsychological assessments at T1 and T2). Linear mixed effect models were fit to data from the per-protocol population. Safety and tolerability were monitored and analysed in all participants who started treatment. Steady-state concentrations in plasma of memantine were measured at the end of the trial. This study is registered at ClinicalTrials.gov, number NCT02304302. FINDINGS: From May 13, 2015, to July 22, 2020, 185 participants with Down syndrome were assessed for eligibility and 160 (86%) were randomly assigned either memantine (n=81) or placebo (n=79). All participants received their allocated treatment. Linear mixed effect models were fit to data from 149 (81%) participants, 73 in the memantine group and 76 in the placebo group, after 11 people (eight in the memantine group and three in the placebo group) discontinued due to COVID-19 restrictions, illness of their caregiver, adverse events, or low compliance. The primary outcome measure did not differ between groups (CVLT-II-sf total free recall score, change from baseline 0·34 points [95% CI -0·98 to 1·67], p=0·61). Memantine was well tolerated, with infrequent mild-to-moderate adverse events, the most common being viral upper respiratory infection (nine [11%] participants in the memantine group and 12 [15%] in the placebo group) and transient dizziness (eight [10%] in the memantine group and six [8%] in the placebo group). No serious adverse events were observed. Amounts of memantine in plasma were substantially lower than those considered therapeutic for Alzheimer's disease. INTERPRETATION: Memantine was well tolerated, but cognition-enhancing effects were not recorded with a 20 mg/day dose in adolescents and young adults with Down syndrome. Exploratory analyses point to a need for future work. FUNDING: Alana Foundation. TRANSLATION: For the Portuguese translation of the abstract see Supplementary Materials section.


Assuntos
Síndrome de Down/tratamento farmacológico , Memantina/uso terapêutico , Adolescente , Cognição/efeitos dos fármacos , Método Duplo-Cego , Síndrome de Down/psicologia , Feminino , Humanos , Masculino , Memantina/administração & dosagem , Memantina/farmacologia , Resultado do Tratamento , Adulto Jovem
16.
J Pediatr ; 156(4): 651-6, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20022340

RESUMO

OBJECTIVE: To test the hypothesis that acute elevations of biomarkers of hypercoagulability and inflammation are common in children with arterial ischemic stroke (AIS), particularly among etiologic subtypes that carry an increased risk of recurrent stroke. STUDY DESIGN: In this prospective/retrospective institutional-based cohort study of acute childhood-onset AIS (n = 50) conducted between 2005 and 2009, D-dimer, factor VIII (FVIII) activity, C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR) were serially evaluated at the time of clinical blood sampling. Patients were classified by stroke subtype as cardioembolic, moyamoya, non-moyamoya arteriopathy, or other. RESULTS: Both D-dimer and CRP were frequently elevated in acute childhood-onset AIS and exhibited a decreasing trend with time. Acute D-dimer levels were significantly higher in cardioembolic AIS compared with noncardioembolic AIS (median, 2.04 microg/mL [range 0.54-4.54 microg/mL] vs 0.32 microg/mL [0.22-3.18 microg/mL]; P = .002). At an optimal threshold of > or = 0.50 microg/mL, the sensitivity and specificity of D-dimer for cardioembolic subtype were 78% and 79%, respectively. CONCLUSIONS: Our findings identify D-dimer and CRP as candidate biomarkers for etiology and prognosis in childhood-onset AIS. Further studies should investigate the role of these and other biomarkers of hypercoagulability and inflammation in childhood-onset AIS.


Assuntos
Biomarcadores/sangue , Isquemia Encefálica/etiologia , Inflamação/sangue , Trombofilia/sangue , Adolescente , Idade de Início , Isquemia Encefálica/sangue , Isquemia Encefálica/epidemiologia , Proteína C-Reativa/metabolismo , Criança , Pré-Escolar , Colorado/epidemiologia , Fator VIII/metabolismo , Feminino , Produtos de Degradação da Fibrina e do Fibrinogênio/metabolismo , Seguimentos , Humanos , Incidência , Inflamação/complicações , Masculino , Prognóstico , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Risco , Trombofilia/complicações , Fatores de Tempo
17.
Behav Genet ; 40(2): 135-45, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20072853

RESUMO

Although there has been much interest in the relation between brain size and cognition, few studies have investigated this relation within a genetic framework and fewer still in non-adult samples. We analyzed the genetic and environmental covariance between structural MRI data from four brain regions (total brain volume, neocortex, white matter, and prefrontal cortex), and four cognitive measures (verbal IQ (VIQ), performance IQ (PIQ), reading ability, and processing speed), in a sample of 41 MZ twin pairs and 30 same-sex DZ twin pairs (mean age at cognitive test = 11.4 years; mean age at scan = 15.4 years). Multivariate Cholesky decompositions were performed with each brain volume measure entered first, followed by the four cognitive measures. Consistent with previous research, each brain and cognitive measure was found to be significantly heritable. The novel finding was the significant genetic but not environmental covariance between brain volumes and cognitive measures. Specifically, PIQ shared significant common genetic variance with all four measures of brain volume (r (g) = .58-.82). In contrast, VIQ shared significant genetic influence with neocortex volume only (r (g) = .58). Processing speed was significant with total brain volume (r (g) = .79), neocortex (r (g) = .64), and white matter (r (g) = .89), but not prefrontal cortex. The only brain measure to share genetic influence with reading was total brain volume (r (g) = .32), which also shared genetic influences with processing speed.


Assuntos
Encéfalo/anatomia & histologia , Variação Genética , Adolescente , Adulto , Encéfalo/fisiologia , Mapeamento Encefálico/métodos , Criança , Cognição , Feminino , Humanos , Inteligência , Testes de Inteligência , Imageamento por Ressonância Magnética/métodos , Masculino , Leitura , Comportamento Verbal
18.
J Child Psychol Psychiatry ; 50(8): 902-10, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19298469

RESUMO

BACKGROUND: Deficient rapid auditory processing (RAP) has been associated with early language impairment and dyslexia. Using an auditory masking paradigm, children with language disabilities perform selectively worse than controls at detecting a tone in a backward masking (BM) condition (tone followed by white noise) compared to a forward masking (FM) condition (tone preceded by white noise). Tallal's (1980) auditory processing hypothesis posits that abnormal RAP leads to reduced (or impaired) phonological awareness (PA), resulting in reading and language difficulties. Alternative theories suggest that impaired PA may have more of a top-down effect on auditory processing. METHODS: The current study examines RAP in children tested at two time points, average age 5.6 and average age 8.3, in order to test causal relations between RAP and PA in a path analysis. Additional hierarchical regressions examine how well RAP predicts reading ability when accounting for PA and vocabulary. RESULTS: The path analysis indicates a top-down effect, such that PA has a larger impact on BM over time than the reverse. Regressions indicate no direct impact of RAP on reading ability. DISCUSSION: The path analysis provides evidence against the auditory processing hypothesis and instead suggests that between the ages of 5 and 8 it is variability in early phonological representations that predicts subsequent lower-level rapid auditory processing.


Assuntos
Transtornos da Percepção Auditiva/diagnóstico , Conscientização , Dislexia/diagnóstico , Memória de Curto Prazo , Mascaramento Perceptivo , Fonética , Percepção da Altura Sonora , Tempo de Reação , Transtornos da Percepção Auditiva/psicologia , Criança , Pré-Escolar , Dislexia/psicologia , Feminino , Humanos , Julgamento , Estudos Longitudinais , Masculino , Estatística como Assunto
19.
J Speech Lang Hear Res ; 52(5): 1175-88, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19403946

RESUMO

PURPOSE: In this study, the authors evaluated literacy outcome in children with histories of speech sound disorder (SSD) who were characterized along 2 dimensions: broader language function and persistence of SSD. In previous studies, authors have demonstrated that each dimension relates to literacy but have not disentangled their effects. Methods Two groups of children (86 SSD and 37 controls) were recruited at ages 5-6 and were followed longitudinally. The authors report the literacy of children with SSD at ages 7-9, compared with controls and national norms, and relative to language skill and SSD persistence (both measured at age 5-6). RESULTS: The SSD group demonstrated elevated rates of reading disability. Language skill but not SSD persistence predicted later literacy. However, SSD persistence was associated with phonological awareness impairments. Phonological awareness alone predicted literacy outcome less well than a model that also included syntax and nonverbal IQ. CONCLUSIONS: Results support previous literature findings that SSD history predicts literacy difficulties and that the association is strongest for SSD + language impairment (LI). Magnitude of phonological impairment alone did not determine literacy outcome, as predicted by the core phonological deficit hypothesis. Instead, consistent with a multiple deficit approach, phonological deficits appeared to interact with other cognitive factors in literacy development.


Assuntos
Transtornos da Articulação/epidemiologia , Dislexia/epidemiologia , Escolaridade , Transtornos do Desenvolvimento da Linguagem/epidemiologia , Distúrbios da Fala/epidemiologia , Transtornos da Articulação/reabilitação , Criança , Pré-Escolar , Comorbidade , Dislexia/reabilitação , Feminino , Humanos , Inteligência , Transtornos do Desenvolvimento da Linguagem/reabilitação , Estudos Longitudinais , Masculino , Valor Preditivo dos Testes , Distúrbios da Fala/reabilitação , Vocabulário
20.
Cognition ; 106(3): 1322-38, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17692304

RESUMO

Typical U.S. children use their knowledge of letters' names to help learn the letters' sounds. They perform better on letter sound tests with letters that have their sounds at the beginnings of their names, such as v, than with letters that have their sounds at the ends of their names, such as m, and letters that do not have their sounds in their names, such as h. We found this same pattern among children with speech sound disorders, children with language impairments as well as speech sound disorders, and children who later developed serious reading problems. Even children who scored at chance on rhyming and sound matching tasks performed better on the letter sound task with letters such as v than with letters such as m and h. Our results suggest that a wide range of children use the names of letters to help learn the sounds and that phonological awareness, as conventionally measured, is not required in order to do so.


Assuntos
Aprendizagem , Linguística , Criança , Feminino , Percepção de Forma , Humanos , Masculino , Percepção da Fala
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