Elton D D Magalhães,Peter Rosenbaum,Marilyn Wright,F Virginia Wright,Lesley Pritchard,Kennea M A Ayupe,Ana Carolina de de Campos,Rosane S Morais,Hércules R Leite,Paula S C Chagas
{"title":"Relato Familiar da Motricidade Grossa: Refinamento e avaliação das propriedades psicométricas.","authors":"Elton D D Magalhães,Peter Rosenbaum,Marilyn Wright,F Virginia Wright,Lesley Pritchard,Kennea M A Ayupe,Ana Carolina de de Campos,Rosane S Morais,Hércules R Leite,Paula S C Chagas","doi":"10.1111/dmcn.16056","DOIUrl":"https://doi.org/10.1111/dmcn.16056","url":null,"abstract":"","PeriodicalId":11161,"journal":{"name":"Developmental Medicine & Child Neurology","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179219","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Rachel H S Oliveira,Marisa C Mancini,Priscilla R P Figueiredo,Leonardo C Abrahão,Edna A Reis,Andrew M Gordon,Marina B Brandão
{"title":"Programa domiciliar individualizado via telessaúde para crianças com paralisia cerebral durante a pandemia de COVID-19.","authors":"Rachel H S Oliveira,Marisa C Mancini,Priscilla R P Figueiredo,Leonardo C Abrahão,Edna A Reis,Andrew M Gordon,Marina B Brandão","doi":"10.1111/dmcn.16082","DOIUrl":"https://doi.org/10.1111/dmcn.16082","url":null,"abstract":"","PeriodicalId":11161,"journal":{"name":"Developmental Medicine & Child Neurology","volume":"8 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AIMTo evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling.METHODA retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of suspected brain abnormalities between January 2008 and December 2022, with one or both parents who underwent brain MRI (MRI-Trio) as part of prenatal counselling. Clinical and demographic data were collected, including fetal and parental MRI findings, prenatal counselling outcomes, genetic testing results, family and previous pregnancy history, neurological examinations of the born children up to 24 months of age, and autopsy reports of fetuses from terminated pregnancies. MRI-Trio concordance was defined as at least one abnormal brain feature identified with similarity in the fetus and the parents. The live-born children were assessed postnatally through either neurodevelopmental evaluations or telephone interviews.RESULTSSixty pregnancies were included (41.7% with concordant and 58.3% with discordant MRI-Trio). Forty-two children were born (70%) and 17 pregnancies were terminated (28.3%). One case of in utero fetal death (1.7%) was reported. The most common brain findings were multiple anomalies (n = 26, 43.3%), isolated disorders of the corpus callosum (n = 17, 28.3%), atypical periventricular pseudocysts (n = 6, 10%), and anomalies of the anterior complex (n = 4, 6.7%). MRI-Trio enabled better prognostication. When MRI-Trio was concordant, counselling was more favourable (n = 22, 36.6%) and the majority of live-born children exhibited typical development (p < 0.001).INTERPRETATIONMRI-Trio is a valuable tool for identifying dominantly inherited brain anomalies that may not hold developmental significance or are associated with favourable outcomes, acknowledging the potential for variable penetrance, which may result in more severe presentations. Concordant MRI-Trio findings can enhance the accuracy of prenatal counselling, potentially reducing the incidence of termination of pregnancy.
{"title":"Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies.","authors":"Stephanie Libzon,Michal Gafner,Dorit Lev,Nilly Waiserberg,Liat Gindes,Zvi Leibovitz,Liat Ben-Sira,Tally Lerman-Sagie","doi":"10.1111/dmcn.16071","DOIUrl":"https://doi.org/10.1111/dmcn.16071","url":null,"abstract":"AIMTo evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling.METHODA retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of suspected brain abnormalities between January 2008 and December 2022, with one or both parents who underwent brain MRI (MRI-Trio) as part of prenatal counselling. Clinical and demographic data were collected, including fetal and parental MRI findings, prenatal counselling outcomes, genetic testing results, family and previous pregnancy history, neurological examinations of the born children up to 24 months of age, and autopsy reports of fetuses from terminated pregnancies. MRI-Trio concordance was defined as at least one abnormal brain feature identified with similarity in the fetus and the parents. The live-born children were assessed postnatally through either neurodevelopmental evaluations or telephone interviews.RESULTSSixty pregnancies were included (41.7% with concordant and 58.3% with discordant MRI-Trio). Forty-two children were born (70%) and 17 pregnancies were terminated (28.3%). One case of in utero fetal death (1.7%) was reported. The most common brain findings were multiple anomalies (n = 26, 43.3%), isolated disorders of the corpus callosum (n = 17, 28.3%), atypical periventricular pseudocysts (n = 6, 10%), and anomalies of the anterior complex (n = 4, 6.7%). MRI-Trio enabled better prognostication. When MRI-Trio was concordant, counselling was more favourable (n = 22, 36.6%) and the majority of live-born children exhibited typical development (p < 0.001).INTERPRETATIONMRI-Trio is a valuable tool for identifying dominantly inherited brain anomalies that may not hold developmental significance or are associated with favourable outcomes, acknowledging the potential for variable penetrance, which may result in more severe presentations. Concordant MRI-Trio findings can enhance the accuracy of prenatal counselling, potentially reducing the incidence of termination of pregnancy.","PeriodicalId":11161,"journal":{"name":"Developmental Medicine & Child Neurology","volume":"7 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
AIMTo evaluate the transfer effects of a home-based computerized executive function intervention on non-targeted cognitive functions (visual perception and memory), quality of life (QoL), and participation in children with cerebral palsy (CP), and to determine whether any improvements were maintained 9 months after the intervention.METHODSixty children with CP (aged 8-12 years) were randomly allocated to the intervention (15 females/15 males, mean age 10 years 4 months [SD = 1 years 8 months], age range 8-12 years) or waitlist (control) (15 females/15 males, mean age 10 years [SD = 1 years 9 months], age range 8-12 years) group. The intervention group underwent a home-based executive function intervention programme for 30 minutes per day, 5 days a week, for 12 weeks. All participants were assessed before the intervention, immediately after and 9 months after the intervention was completed.RESULTSAfter the intervention was completed, performance in immediate verbal memory, verbal learning, and visual perception (object and picture recognition) was significantly better in the intervention group than in the waitlist (control) group. No improvements were found in visual memory, visuospatial perception, QoL, or participation after the intervention. Scores at the follow-up showed that any beneficial effects were not maintained 9 months after the intervention was completed.INTERPRETATIONA home-based computerized executive function intervention produced transfer effects on memory and visual perception immediately after the intervention in children with CP, although any beneficial effects were not sustained at the 9-month follow-up.
{"title":"Transferability of an executive function intervention in children with cerebral palsy: A randomized controlled trial.","authors":"Montse Blasco,María García-Galant,Júlia Ballester-Plané,Olga Laporta-Hoyos,Xavier Caldú,David Leiva,Roslyn N Boyd,Els Ortibus,Roser Pueyo,","doi":"10.1111/dmcn.16057","DOIUrl":"https://doi.org/10.1111/dmcn.16057","url":null,"abstract":"AIMTo evaluate the transfer effects of a home-based computerized executive function intervention on non-targeted cognitive functions (visual perception and memory), quality of life (QoL), and participation in children with cerebral palsy (CP), and to determine whether any improvements were maintained 9 months after the intervention.METHODSixty children with CP (aged 8-12 years) were randomly allocated to the intervention (15 females/15 males, mean age 10 years 4 months [SD = 1 years 8 months], age range 8-12 years) or waitlist (control) (15 females/15 males, mean age 10 years [SD = 1 years 9 months], age range 8-12 years) group. The intervention group underwent a home-based executive function intervention programme for 30 minutes per day, 5 days a week, for 12 weeks. All participants were assessed before the intervention, immediately after and 9 months after the intervention was completed.RESULTSAfter the intervention was completed, performance in immediate verbal memory, verbal learning, and visual perception (object and picture recognition) was significantly better in the intervention group than in the waitlist (control) group. No improvements were found in visual memory, visuospatial perception, QoL, or participation after the intervention. Scores at the follow-up showed that any beneficial effects were not maintained 9 months after the intervention was completed.INTERPRETATIONA home-based computerized executive function intervention produced transfer effects on memory and visual perception immediately after the intervention in children with CP, although any beneficial effects were not sustained at the 9-month follow-up.","PeriodicalId":11161,"journal":{"name":"Developmental Medicine & Child Neurology","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179230","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A global picture of outcomes after preterm birth: Is there a discrepancy?","authors":"Andrei S Morgan","doi":"10.1111/dmcn.16092","DOIUrl":"https://doi.org/10.1111/dmcn.16092","url":null,"abstract":"","PeriodicalId":11161,"journal":{"name":"Developmental Medicine & Child Neurology","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Michael Eyre,Steve Rose,Rachel Gwynn,Ronit M Pressler,Maria Clark
AIMTo evaluate a group of children with epilepsy and motor speech regression, with the aim of characterizing their speech disorders, electrographic features, and outcomes.METHODChildren referred to a tertiary developmental epilepsy clinic with epilepsy and motor speech regression were identified retrospectively. A clinical history was taken, and longitudinal speech and cognitive data were recorded. Speech samples were scored for severity and speech features. Seizure frequency and epileptiform discharges in the interictal electroencephalogram were analysed.RESULTSEighteen children (10 female) were evaluated, including seven with Landau-Kleffner syndrome and six with Rasmussen syndrome. Speech regression occurred at a mean age of 5 years (SD = 2 years 6 months), which was concurrent with seizure onset or peak seizure burden in eight children. Speech features included dysarthria (n = 13), phonological errors (n = 7), and dyspraxia (n = 6). Electrographic abnormalities occurred most frequently in the left centrotemporal and right frontal regions. Among children who were followed up, intelligibility of speech was affected in 13 at baseline and seven at follow-up (p = 0.03). Expressive language standardized scores increased from a mean (SD) of 50.0 (11.3) to 91.4 (27.8) in children with Landau-Kleffner syndrome (mean change = 41.4, 95% confidence interval [CI] 0.04-82.8, p = 0.0498) and decreased from 75.2 (15.3) to 59.0 (9.8) in children with Rasmussen syndrome (mean change -16.2, 95% CI -9.0 to -23.4, p = 0.002) over the follow-up.INTERPRETATIONMotor speech disorders in epilepsy were severe, multifarious, and often fluctuated with seizure burden. Symptoms typically improved, especially in children with Landau-Kleffner syndrome, but rarely fully resolved.
{"title":"Acquired motor speech disorders in childhood epilepsy.","authors":"Michael Eyre,Steve Rose,Rachel Gwynn,Ronit M Pressler,Maria Clark","doi":"10.1111/dmcn.16091","DOIUrl":"https://doi.org/10.1111/dmcn.16091","url":null,"abstract":"AIMTo evaluate a group of children with epilepsy and motor speech regression, with the aim of characterizing their speech disorders, electrographic features, and outcomes.METHODChildren referred to a tertiary developmental epilepsy clinic with epilepsy and motor speech regression were identified retrospectively. A clinical history was taken, and longitudinal speech and cognitive data were recorded. Speech samples were scored for severity and speech features. Seizure frequency and epileptiform discharges in the interictal electroencephalogram were analysed.RESULTSEighteen children (10 female) were evaluated, including seven with Landau-Kleffner syndrome and six with Rasmussen syndrome. Speech regression occurred at a mean age of 5 years (SD = 2 years 6 months), which was concurrent with seizure onset or peak seizure burden in eight children. Speech features included dysarthria (n = 13), phonological errors (n = 7), and dyspraxia (n = 6). Electrographic abnormalities occurred most frequently in the left centrotemporal and right frontal regions. Among children who were followed up, intelligibility of speech was affected in 13 at baseline and seven at follow-up (p = 0.03). Expressive language standardized scores increased from a mean (SD) of 50.0 (11.3) to 91.4 (27.8) in children with Landau-Kleffner syndrome (mean change = 41.4, 95% confidence interval [CI] 0.04-82.8, p = 0.0498) and decreased from 75.2 (15.3) to 59.0 (9.8) in children with Rasmussen syndrome (mean change -16.2, 95% CI -9.0 to -23.4, p = 0.002) over the follow-up.INTERPRETATIONMotor speech disorders in epilepsy were severe, multifarious, and often fluctuated with seizure burden. Symptoms typically improved, especially in children with Landau-Kleffner syndrome, but rarely fully resolved.","PeriodicalId":11161,"journal":{"name":"Developmental Medicine & Child Neurology","volume":"11 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jack R Fennessy,Kayla M D Cornett,Gabrielle A Donlevy,Marnee J Mckay,Joshua Burns,Manoj P Menezes
The aim of this longitudinal case series was to describe long-term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high-dose oral riboflavin. Data were collected between 2012 to 2022. Eleven individuals with RTD were assessed at 12-month intervals for monitoring of disease progression. Patients had commenced high-dose oral riboflavin from the time of genetic diagnosis. Individuals for whom riboflavin supplementation was initiated early after disease onset had better outcomes compared to those in whom diagnosis was delayed. Despite ongoing riboflavin supplementation, the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) total score and the subitems of balance and the 6-Minute Walk Test distance as well as respiratory function worsened, while grip strength improved. There was evidence of improvement in hearing loss and optic atrophy limited to the first 12 months of treatment. While treatment with riboflavin slowed disease progression, patients were left with residual disability. To track disease progression and response to riboflavin supplementation over time, we recommend using the RTD Pediatric Scale and provide a list of clinical measures for regular surveillance of children with RTD.
{"title":"Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.","authors":"Jack R Fennessy,Kayla M D Cornett,Gabrielle A Donlevy,Marnee J Mckay,Joshua Burns,Manoj P Menezes","doi":"10.1111/dmcn.16083","DOIUrl":"https://doi.org/10.1111/dmcn.16083","url":null,"abstract":"The aim of this longitudinal case series was to describe long-term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high-dose oral riboflavin. Data were collected between 2012 to 2022. Eleven individuals with RTD were assessed at 12-month intervals for monitoring of disease progression. Patients had commenced high-dose oral riboflavin from the time of genetic diagnosis. Individuals for whom riboflavin supplementation was initiated early after disease onset had better outcomes compared to those in whom diagnosis was delayed. Despite ongoing riboflavin supplementation, the Charcot-Marie-Tooth disease Pediatric Scale (CMTPedS) total score and the subitems of balance and the 6-Minute Walk Test distance as well as respiratory function worsened, while grip strength improved. There was evidence of improvement in hearing loss and optic atrophy limited to the first 12 months of treatment. While treatment with riboflavin slowed disease progression, patients were left with residual disability. To track disease progression and response to riboflavin supplementation over time, we recommend using the RTD Pediatric Scale and provide a list of clinical measures for regular surveillance of children with RTD.","PeriodicalId":11161,"journal":{"name":"Developmental Medicine & Child Neurology","volume":"54 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142179246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2001-09-01DOI: 10.1017/S0012162201001062
M. Bax
{"title":"European Academy of Childhood Disability at Göteborg.","authors":"M. Bax","doi":"10.1017/S0012162201001062","DOIUrl":"https://doi.org/10.1017/S0012162201001062","url":null,"abstract":"","PeriodicalId":11161,"journal":{"name":"Developmental Medicine & Child Neurology","volume":"55 1","pages":"579-579"},"PeriodicalIF":0.0,"publicationDate":"2001-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84343275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：