Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.

abstract：:Self-injury is a defining feature of lesch-nyhan disease (LND) but does not occur in the less severely affected Lesch-Nyhan variants (LNV). The aim of this study was to quantify behavioral and emotional abnormalities in LND and LNV. Thirty-nine informants rated 22 patients with LND (21 males, 1 female), 11 males with ...

journal_title：Developmental medicine and child neurology

authors： Schretlen DJ,Ward J,Meyer SM,Yun J,Puig JG,Nyhan WL,Jinnah HA,Harris JC

更新日期：2005-10-01 00:00:00

abstract：:Forty-three healthy children aged between six and 12 years were tested to determine the intra-rater reliability of four clinical cutaneous and proprioceptive sensory assessment tools: touch pressure, vibration perception, thermal discrimination and kinaesthesis. The tests were carried out bilaterally on proximal and d...

journal_title：Developmental medicine and child neurology

authors： Thibault A,Forget R,Lambert J

更新日期：1994-09-01 00:00:00

abstract：AIM:To investigate the underlying factor structure of the 46-item Flemish cerebral visual impairment (CVI) questionnaire, differentiate the factor scores of children with and without CVI, and examine the impact of comorbidities on factor scores. METHOD:The records of 630 children (386 males, 244 females; median age 77...

journal_title：Developmental medicine and child neurology

authors： Ben Itzhak N,Vancleef K,Franki I,Laenen A,Wagemans J,Ortibus E

更新日期：2020-08-01 00:00:00

abstract：:The developing brain is especially sensitive to a wide range of experiences, showing a remarkable capacity for plastic changes that influence behavioural outcomes throughout the lifetime. We review the principles that regulate this plasticity in development and consider the factors that modulate the developing brain. ...

journal_title：Developmental medicine and child neurology

authors： Kolb B,Harker A,Gibb R

更新日期：2017-12-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a progressive pediatric disorder that affects both muscle and brain. Children with DMD have mean IQ scores that are about one standard deviation lower than population means, with lower Verbal IQ than Performance IQ scores. For the present study, verbal skills and verbal memory skil...

journal_title：Developmental medicine and child neurology

authors： Hinton VJ,Fee RJ,Goldstein EM,De Vivo DC

更新日期：2007-02-01 00:00:00

abstract：:Rud syndrome is a rare disorder of childhood characterized by ichthyosis, mental retardation, epilepsy and hypogonadism. The authors report a family with this autosomal recessive disorder, review the clinical and dermatopathological findings, and contrast Rud syndrome with the other major neuro-ichthyosiform dermatose...

journal_title：Developmental medicine and child neurology

authors： Marxmiller J,Trenkle I,Ashwal S

更新日期：1985-06-01 00:00:00

abstract：:This study surveyed the development and functioning of a group of 16 children with congenital hypothyroidism who had been followed closely since treatment was instituted at an average age of 15.6 days. This group of early-treated young children had no deficits in cognitive or adaptive functioning. Some isolated motor ...

journal_title：Developmental medicine and child neurology

authors： Gottschalk B,Richman RA,Lewandowski L

更新日期：1994-03-01 00:00:00

abstract：:Guanidinoacetate methyltransferase (GAMT) deficiency is a disorder of creatine biosynthesis, characterized by early-onset learning disability and epilepsy in most affected children. Severe expressive language delay is a constant feature even in the mildest clinical phenotypes.We report the clinical, biochemical, imagi...

journal_title：Developmental medicine and child neurology

authors： O'Rourke DJ,Ryan S,Salomons G,Jakobs C,Monavari A,King MD

更新日期：2009-05-01 00:00:00

abstract：:Lesch-Nyhan syndrome (LNS) is a rare disorder of metabolism caused by a defective gene on the X chromosome. It is typically characterized by choreoathetosis, hypertonia, hyperreflexia, and self-mutilation. The present study is a 4-year follow-up investigation of the cognitive status of six subjects with a mean age of ...

journal_title：Developmental medicine and child neurology

authors： Matthews WS,Solan A,Barabas G,Robey K

更新日期：1999-04-01 00:00:00

abstract：:The paper reports the second of two studies designed to evaluate the effectiveness of the Kinaesthetic Training Programme (Laszlo and Bairstow, 1985) for children with movement difficulties. Three groups of 12 children were matched on age, IQ and sex as well as degree of kinaesthetic and motor impairment. One group re...

journal_title：Developmental medicine and child neurology

authors： Sims K,Henderson SE,Morton J,Hulme C

更新日期：1996-11-01 00:00:00

abstract：AIM:To evaluate pain prevalence and characteristics in children and adolescents with predominant dyskinetic and mixed (dyskinetic/spastic) cerebral palsy (CP) motor types. METHOD:Seventy-five participants with a diagnosis of CP and confirmed dyskinetic or mixed (dyskinetic/spastic) motor type took part in a multisite ...

journal_title：Developmental medicine and child neurology

authors： McKinnon CT,Morgan PE,Antolovich GC,Clancy CH,Fahey MC,Harvey AR

更新日期：2020-11-01 00:00:00

abstract：AIM:New tools that capture hand function in everyday activities and contexts are needed for assessing children with hemiplegic cerebral palsy. This study evaluates a wearable wrist monitor and tests the hypothesis that wrist extension frequency (FreqE) is an appropriate indicator of functional hand use. METHOD:Fifteen...

journal_title：Developmental medicine and child neurology

authors： Howcroft J,Fehlings D,Zabjek K,Fay L,Liang J,Biddiss E

更新日期：2011-11-01 00:00:00

abstract：:In the North Paddington Primary School Study 350 children were identified at five and studied over a five-year period. The children were given a comprehensive examination on entry to school, the findings from which are briefly described. Here the results of the neurodevelopmental assessment are reviewed. Children with...

journal_title：Developmental medicine and child neurology

authors： Bax M,Whitmore K

更新日期：1987-02-01 00:00:00

abstract：:This study compares the neurobehavioral status of 118 low-birthweight infants tested at 40 weeks conceptional age with that of 76 normal fullterm infants. A neonatal neurobehavioral examination comprising 21 test and four summary items was used. The most striking differences between the groups were found in visual and...

journal_title：Developmental medicine and child neurology

authors： Kurtzberg D,Vaughan HG Jr,Daum C,Grellong BA,Albin S,Rotkin L

更新日期：1979-10-01 00:00:00

abstract：:The neurodevelopmental status of 171 very preterm infants whose brains had been scanned prospectively with ultrasound was assessed blind at four years using a wide range of tests, including tests of cognitive function. Highly significant correlations were found between the ultrasound appearance of the brain and outcom...

journal_title：Developmental medicine and child neurology

authors： Costello AM,Hamilton PA,Baudin J,Townsend J,Bradford BC,Stewart AL,Reynolds EO

更新日期：1988-12-01 00:00:00

abstract：AIM:To investigate the diagnostic yield and treatment impact of whole-genome sequencing (WGS) in patients with paediatric neurological disorders. METHOD:From January 2016 to December 2019, paediatric patients who had suspected genetic neurological disorders were assessed using WGS. The phenotypes of eligible patients ...

journal_title：Developmental medicine and child neurology

authors： Lee HF,Chi CS,Tsai CR

更新日期：2020-11-26 00:00:00

abstract：AIM:To estimate the impact of different types of language disorders on socio-emotional development and health-related quality of life (HRQOL) in 8-year-old children. METHOD:In a prospective cohort including 13 427 newborns, of 10 911 eligible children (66 excluded because of intellectual disability or foreign language...

journal_title：Developmental medicine and child neurology

authors： Van Agt H,Verhoeven L,Van Den Brink G,De Koning H

更新日期：2011-01-01 00:00:00

abstract：:Associated movements in the contralateral limbs were measured quantitatively for 42 seven- to eight-year-old children who wrote with the right hand. Associated movements of the contralateral homologous muscles systematically increased as a function of the intensity of contraction of the active hand. The associated mov...

journal_title：Developmental medicine and child neurology

authors： Todor JI,Lazarus JA

更新日期：1986-04-01 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

abstract：:An 11-year-old girl was evaluated for walking difficulties and fatigue at the end of the day in the last 2 years. Handwriting was also difficult with 'cramps' after a short time of writing. Neurological examination was normal most of the time but in the evening and after exercise, an abnormal walking posture and rare ...

journal_title：Developmental medicine and child neurology

authors： Deonna T,Roulet E,Ghika J,Zesiger P

更新日期：1997-01-01 00:00:00

abstract：:Children with mild developmental delay without dysmorphic features do not often have identifiable underlying aetiological factors. We report on a 5-year-old girl with mild developmental delay and dysmorphic features which were previously unrecognized. She was found to have supernumerary ring chromosome 19 mosaicism wh...

journal_title：Developmental medicine and child neurology

authors： Vaz I,Larkins SA,Norman A,Green SH

更新日期：1999-01-01 00:00:00

abstract：AIM:In a prospective, longitudinal study, we investigated the influence of the severity of motor impairment on changes in body characteristics in children with moderate-to-severe cerebral palsy (CP). METHOD:Twenty-six single children and adolescents (15 females, 11 males; mean age 10y 6mo, SD 3y 3mo) with spastic (qua...

journal_title：Developmental medicine and child neurology

authors： Ohata K,Tsuboyama T,Haruta T,Ichihashi N,Nakamura T

更新日期：2009-12-01 00:00:00

abstract：:This randomized double blind AB/BA cross-over trial evaluates the effect of oral modafinil versus placebo on spasticity, function, and quality of life in children with cerebral palsy (CP). Outcomes were measured at the start and end of both 8-week treatment periods (modafinil and placebo). The order of the treatment p...

journal_title：Developmental medicine and child neurology

authors： Murphy AM,Milo-Manson G,Best A,Campbell KA,Fehlings D

更新日期：2008-07-01 00:00:00

abstract：:This review considers carbohydrate metabolism in the developing brain, in particular the proportion of glucose metabolized via the pentose phosphate pathway. Although small in amount, this fraction serves a vital rôle in some aspects of brain function. Evidence is presented that the pentose phosphate pathway subserves...

journal_title：Developmental medicine and child neurology

authors： Baquer NZ,Hothersall JS,McLean P,Greenbaum AL

更新日期：1977-02-01 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:The aim of this study was to describe systematically the best available intervention evidence for children with cerebral palsy (CP). METHOD:This study was a systematic review of systematic reviews. The following databases were searched: CINAHL, Cochrane Library, DARE, EMBASE, Google Scholar MEDLINE, OTSeeker, PEDr...

journal_title：Developmental medicine and child neurology

authors： Novak I,McIntyre S,Morgan C,Campbell L,Dark L,Morton N,Stumbles E,Wilson SA,Goldsmith S

更新日期：2013-10-01 00:00:00

abstract：AIM:To establish the prevalence of dystonic pain in children and their response to deep brain stimulation (DBS). METHOD:Dystonic pain was assessed in a cohort of 140 children, 71 males and 69 females, median age 11 years 11 months (range 3y-19y 1mo), undergoing DBS in our centre over a period of 10 years. The cohort w...

journal_title：Developmental medicine and child neurology

authors： Perides S,Lin JP,Lee G,Gimeno H,Lumsden DE,Ashkan K,Selway R,Kaminska M

更新日期：2020-08-01 00:00:00

abstract：:We report a longitudinal, prospective, multicentre cohort study designed to measure the outcomes of gastrostomy tube feeding in children with cerebral palsy (CP). Fifty-seven children with CP (28 females, 29 males; median age 4y 4mo, range 5mo to 17y 3mo) were assessed before gastrostomy placement, and at 6 and 12 mon...

journal_title：Developmental medicine and child neurology

authors： Sullivan PB,Juszczak E,Bachlet AM,Lambert B,Vernon-Roberts A,Grant HW,Eltumi M,McLean L,Alder N,Thomas AG

更新日期：2005-02-01 00:00:00

abstract：:Lasting socio-emotional behaviour difficulties are common among children who have suffered brain injuries. A proportion of difficulties may be attributed to impaired cognitive and/or executive skills after injury. A recent and rapidly accruing body of literature indicates that deficits in recognizing and responding to...

journal_title：Developmental medicine and child neurology

authors： Tonks J,Slater A,Frampton I,Wall SE,Yates P,Williams WH

更新日期：2009-01-01 00:00:00

abstract：:The assumption that children born preterm have difficulties in maintaining active attention was tested in passive and active tasks. Twenty 5-year-old children born preterm at 26 to 32 weeks gestational age were compared with 20 children born at term, matched for age and IQ, using an auditory paradigm. In the passive t...

journal_title：Developmental medicine and child neurology

authors： Dupin R,Laurent JP,Stauder JE,Saliba E

更新日期：2000-07-01 00:00:00