Diagnostic yield and treatment impact of whole-genome sequencing in paediatric neurological disorders.

abstract：:The dynamic tripod grip during handwriting was examined among seven- to 14-year-old children. Four components were measured: (a) degree of index-finger flexion; (b) degree of forearm pronation/supination; (c) number of fingers used on the pencil shaft; and (d) thumb and forefinger opposition. Developmental trends were...

journal_title：Developmental medicine and child neurology

authors： Ziviani J

更新日期：1983-12-01 00:00:00

abstract：:The purpose of this study was to analyze retrospectively which neuromotor behaviors in a sample of four-month-old low-birthweight infants were most predictive of later cerebral palsy. The infants were evaluated at four months corrected age on the Movement Assessment of Infants (MAI) and were followed to between three ...

journal_title：Developmental medicine and child neurology

authors： Harris SR

更新日期：1987-08-01 00:00:00

abstract：AIM:As early intervention is important in cerebral palsy (CP), an early diagnosis is desirable. The aim of this study was to establish the median diagnostic age of CP and to identify predictors of an early diagnosis in a population-based cohort. METHOD:Using the Danish National Cerebral Palsy Registry (NCPR), we ident...

journal_title：Developmental medicine and child neurology

authors： Granild-Jensen JB,Rackauskaite G,Flachs EM,Uldall P

更新日期：2015-10-01 00:00:00

abstract：AIM:The aim of this study was to assess the rate of fracture before and after a 1-year course of intravenous pamidronate in children with spastic quadriplegic cerebral palsy (CP) who had previously experienced fractures. METHOD:Twenty-five children (nine males, 16 females) with quadriplegic CP in Gross Motor Function ...

journal_title：Developmental medicine and child neurology

authors： Bachrach SJ,Kecskemethy HH,Harcke HT,Hossain J

更新日期：2010-09-01 00:00:00

abstract：:The development of bowel and bladder control by day and at night during the first six years of life in 320 Swiss children in the Zurich longitudinal study (1955--1976) is described in detail. A scoring system was used which included intermediate stages of control. With toilet-training started in 96 per cent of the chi...

journal_title：Developmental medicine and child neurology

authors： Largo RH,Stutzle W

更新日期：1977-10-01 00:00:00

abstract：:Somatosensory evoked potentials (SSEPs) are a very sensitive measure of the functional integrity of the neuroaxis, including peripheral and central structures. When used in diagnostic mode they can provide additional information regarding the probable areas of dysfunction. SSEPs were recorded from 44 children (64 feet...

journal_title：Developmental medicine and child neurology

authors： Nadeem RD,Brown JK,Lawson G,Macnicol MF

更新日期：2000-08-01 00:00:00

abstract：:Preterm infants are at high risk for developmental impairments at school age. However, the impact of these impairments on important life skills, such as handwriting, is unknown. Forty-eight first-grade children (27 males, 21 females; mean age 6y 7mo, SD 3.9mo; range 6y 1mo to 7y 3mo) born preterm (birthweight < 1250g;...

journal_title：Developmental medicine and child neurology

authors： Feder KP,Majnemer A,Bourbonnais D,Platt R,Blayney M,Synnes A

更新日期：2005-03-01 00:00:00

abstract：:The results are presented of a follow-up study of 155 Dutch children after the first febrile seizure. Of these initially untreated children 37 per cent had had at least one, 30 per cent at least two and 17 per cent at least three subsequent seizures. The vulnerable period for recurrent seizures after the first febrile...

journal_title：Developmental medicine and child neurology

authors： Offringa M,Derksen-Lubsen G,Bossuyt PM,Lubsen J

更新日期：1992-01-01 00:00:00

abstract：:Familial dysautonomia (FD), an autosomal recessive peripheral nervous system disorder, affects almost exclusively children of Jewish Ashkenazi origin and causes profound generalized autonomic dysfunction. Excessive drooling is frequent and is traditionally attributed to swallowing difficulties. Although true hypersali...

journal_title：Developmental medicine and child neurology

authors： Mass E,Wolff A,Gadoth N

更新日期：1996-02-01 00:00:00

abstract：AIM:The first aim of this study was to systematically review and critically assess manually controlled instrumented spasticity assessment methods that combine multidimensional signals. The second aim was to extract a set of quantified parameters that are psychometrically sound to assess spasticity in a clinical setting...

journal_title：Developmental medicine and child neurology

authors： Bar-On L,Aertbeliën E,Molenaers G,Dan B,Desloovere K

更新日期：2014-10-01 00:00:00

abstract：:The aim of this study was to determine whether there are primary effects of prematurity on the development of explicit memory. Elicited imitation of action sequences was used to compare immediate and 15-minute delayed memory in term and preterm infants (19 months corrected age; n=48) who were at low risk: none had exp...

journal_title：Developmental medicine and child neurology

authors： de Haan M,Bauer PJ,Georgieff MK,Nelson CA

更新日期：2000-05-01 00:00:00

abstract：:This study investigated potential differences in motor control between children with a visual impairment (diagnosed albinism; n=11, mean age 8y 4mo [SD 7mo]; seven males, four females,) and children with normal vision (n=11, mean age 8y 4mo [SD 7mo]; six males, five females). Mean near visual acuity in the albinism gr...

journal_title：Developmental medicine and child neurology

authors： Reimer AM,Cox RF,Boonstra NF,Smits-Engelsman BC

更新日期：2008-10-01 00:00:00

abstract：:The present study examines the coordination of fingertip forces during object manipulation in both the involved and non-involved hand of 14 children with hemiplegic cerebral palsy (CP) aged between 8 and 14 years. While no impairment could be observed in the non-involved hand, subtle deficits in the sequencing of the ...

journal_title：Developmental medicine and child neurology

authors： Gordon AM,Charles J,Duff SV

更新日期：1999-03-01 00:00:00

abstract：:A survey of the population of the Spina Bifida Service (107 patients) of Georgetown University Hospital, Washington, D.C., and of a control population in the same hospital revealed that, although situated in an ethnically heterogeneous area, Service patients with a history of neural-tube defects in siblings or family ...

journal_title：Developmental medicine and child neurology

authors： Nightingale EO,Scribanu N,McCullough DC,Quinn C

更新日期：1975-10-01 00:00:00

abstract：:Developmental dysphasia, a severe childhood learning disorder, is thought to result from problems in hemispheric specialization involving both left and right cerebral hemispheres. Regional cerebral blood flow (rCBF) was measured at rest and during stimulation of both hemispheres independently: dichotic listening for t...

journal_title：Developmental medicine and child neurology

authors： Chiron C,Pinton F,Masure MC,Duvelleroy-Hommet C,Leon F,Billard C

更新日期：1999-08-01 00:00:00

abstract：AIM:Controversy surrounds the distinction between high-functioning autism (HFA) and Asperger disorder, but motor abnormalities are associated features of both conditions. This study examined motor cortical inhibition and excitability in HFA and Asperger disorder using transcranial magnetic stimulation (TMS). METHOD:Pa...

journal_title：Developmental medicine and child neurology

authors： Enticott PG,Rinehart NJ,Tonge BJ,Bradshaw JL,Fitzgerald PB

更新日期：2010-08-01 00:00:00

abstract：AIM:Cerebral palsy (CP) is a poorly understood disorder with no cure. We determined the landscape of National Institutes of Health (NIH) funding for CP-related research. METHOD:We searched NIH databases Research Portfolio Online Reporting Tools Expenditures and Results, and Research, Condition, and Disease Categorizat...

journal_title：Developmental medicine and child neurology

authors： Wu YW,Mehravari AS,Numis AL,Gross P

更新日期：2015-10-01 00:00:00

abstract：AIM:Apolipoprotein E (APOE, protein; [ApoE, gene]) is a lipid transport protein abundantly present in brain cells. We investigated whether the APOE genotype is associated with cerebral palsy (CP) and whether patients with CP with comorbid conditions and more severe neurological deficits are likely to have a particular ...

journal_title：Developmental medicine and child neurology

authors： Braga LW,Borigato EV,Speck-Martins CE,Imamura EU,Gorges AM,Izumi AP,Dantas RC,Nunes LG

更新日期：2010-07-01 00:00:00

abstract：AIM:To assess the prevalence of elementary visuospatial perception (EVSP) deficit in children with neurodevelopmental disorders. METHOD:Using a screening test designed and validated to measure dorsal EVSP ability, 168 children (122 males, 46 females; mean age 10y [SD 1y 10mo], range 4y 8mo-16y 4mo) diagnosed with deve...

journal_title：Developmental medicine and child neurology

authors： Pisella L,Vialatte A,Martel M,Prost-Lefebvre M,Caton MC,Stalder M,Yssad R,Roy AC,Vuillerot C,Gonzalez-Monge S

更新日期：2020-12-11 00:00:00

abstract：:An unusual presentation of biotinidase deficiency is described. The disorder classically presents in infancy or early childhood with intractable seizures, hypotonia, ataxia, hearing loss, dermatitis, and alopecia. A 5-year-old girl developed acute visual loss associated with optic atrophy, and disturbance of gait with...

journal_title：Developmental medicine and child neurology

authors： Rahman S,Standing S,Dalton RN,Pike MG

更新日期：1997-12-01 00:00:00

abstract：AIM:To characterize growth trajectories of children who develop multiple sclerosis compared to typically developing, regional peers and Centers for Disease Control (CDC) normative values. METHOD:This case-control study collected weight, height, and body mass index (BMI) in 40 consecutive pediatric patients with multip...

journal_title：Developmental medicine and child neurology

authors： Brenton JN,Woolbright E,Briscoe-Abath C,Qureshi A,Conaway M,Goldman MD

更新日期：2019-11-01 00:00:00

abstract：:Lesions composed of Pacinian corpuscles or showing Pacinian corpuscle differentiation have usually been described in relation to benign tumours of the peripheral nervous system or reactive hyperplastic processes. On the other hand, mature Pacinian corpuscles have occasionally been detected as part of intraspinal lumbo...

journal_title：Developmental medicine and child neurology

authors： Kojc N,Korsic M,Popovic M

更新日期：2006-12-01 00:00:00

abstract：:This study presents a method to quantify a child's sensitivity to passive limb motion, which is an important aspect of kinaesthesia not easily examined clinically. Psychophysical detection thresholds to passive forearm motion were determined in a group of 20 typically developing pre-adolescent children (mean age 12y 6...

journal_title：Developmental medicine and child neurology

authors： Pickett K,Konczak J

更新日期：2009-09-01 00:00:00

abstract：AIM:To determine dimensionality and item-level properties of the Gillette Functional Assessment Questionnaire (FAQ) 22-item skill set using factor and Rasch analyses. METHOD:A retrospective review of parent-reported FAQ 22-item skill set data was conducted of 485 individuals (273 males, 212 females; mean age 9 y 10 mo...

journal_title：Developmental medicine and child neurology

authors： Gorton GE 3rd,Stout JL,Bagley AM,Bevans K,Novacheck TF,Tucker CA

更新日期：2011-03-01 00:00:00

abstract：:Twenty-one individuals (19 females, two males) with teenage-onset anorexia nervosa (AN), 19 of whom were weight restored, were assessed using single-photon emission computed tomography (SPECT) 7 years after onset of AN, at a mean age of 22 years. For comparison we recruited a younger group without neuropsychiatric dis...

journal_title：Developmental medicine and child neurology

authors： Råstam M,Bjure J,Vestergren E,Uvebrant P,Gillberg IC,Wentz E,Gillberg C

更新日期：2001-04-01 00:00:00

abstract：:The aim of the present study was to evaluate whether the application of Dutch versus US test procedures and norms of the Bayley Scales of Infant Development - 2nd edition (BSID-II) leads to different developmental outcomes. The BSID-II was administered to 376 preterm infants (191 males, 185 females; mean gestational a...

journal_title：Developmental medicine and child neurology

authors： Westera JJ,Houtzager BA,Overdiek B,van Wassenaer AG

更新日期：2008-06-01 00:00:00

abstract：:Cerebral palsy (CP) is a heterogeneous group of neurodevelopmental disorders associated with lifelong motor impairment and disability. Current intervention programmes aim to capitalize on the neuroplasticity of the undamaged part of the brain to improve motor functions, by engaging individuals in active motor learning...

journal_title：Developmental medicine and child neurology

authors： Diaz Heijtz R,Forssberg H

更新日期：2015-04-01 00:00:00

abstract：AIM:The aim of the study was to develop an ecologically valid synthesis of the evidence underpinning interventions for children with speech, language, and communication needs (SLCN), integrating a range of different data sources. METHOD:Three sources of information were integrated: the Cochrane Review of interventions...

journal_title：Developmental medicine and child neurology

authors： Law J,Roulstone S,Lindsay G

更新日期：2015-03-01 00:00:00

abstract：:Short-term test-retest reliability of the 10-metre fast walk test (10mFWT) and 6-minute walk test (6MWT) was evaluated in 31 ambulatory children with cerebral palsy (CP), with subgroup analyses in Gross Motor Function Classification System (GMFCS) Levels I (n=9), II (n=8), and III (n=14). Sixteen females and 15 males ...

journal_title：Developmental medicine and child neurology

authors： Thompson P,Beath T,Bell J,Jacobson G,Phair T,Salbach NM,Wright FV

更新日期：2008-05-01 00:00:00

abstract：:The results of a study of a nationally representative sample of disabled children and controls are presented. The findings suggest that although, at any one time, families containing a disabled child are not no more likely to be one-parent families, disabled children do appear to be more likely to experience a spell i...

journal_title：Developmental medicine and child neurology

authors： Cooke K,Bradshaw J,Lawton D,Brewer R

更新日期：1986-10-01 00:00:00