Early onset calpainopathy with normal non-functional calpain 3 level.

abstract：:Sixty-nine very-low-birthweight infants out of a population of 923 had cerebral palsy (CP) at an 18-month follow-up. Thirty-nine of these had cranial ultrasound abnormalities in the neonatal period and 30 had normal cranial ultrasounds. The distribution of subtypes of CP differed markedly between the two groups, with ...

journal_title：Developmental medicine and child neurology

authors： Wheater M,Rennie JM

更新日期：2000-06-01 00:00:00

abstract：:We describe four children with dysmorphic syndrome with severe learning disability (SLD). Their chromosomes had been normal on conventional cytogenetic examination. However, screening using a multiprobe fluorescence in situ hybridisation (FISH) technique for subtelomeric abnormalities revealed a deletion of the p arm ...

journal_title：Developmental medicine and child neurology

authors： Knight-Jones E,Knight S,Heussler H,Regan R,Flint J,Martin K

更新日期：2000-03-01 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:Studies on the use of intrathecal baclofen (ITB) for ambulant adults with spasticity and/or dystonia of cerebral origin are scarce, and are even more limited for children and adolescents. This systematic review investigates the use of ITB to improve walking, transfer ability, and gross motor activities in ambulant ...

journal_title：Developmental medicine and child neurology

authors： Pin TW,McCartney L,Lewis J,Waugh MC

更新日期：2011-10-01 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：:Hand preference and functional hand-dominance of 45 spina bifida patients (aged 13 to 25 years) were assessed by means of self-reports on an ordinal scale and a tapping task. Non-right-handedness was more frequent among patients with accompanying progressive hydrocephalus. Left-hand preference was significantly more f...

journal_title：Developmental medicine and child neurology

authors： Wassing HE,Siebelink BM,Luyendijk W

更新日期：1993-09-01 00:00:00

abstract：:This study examined the social and academic implications of mainstream, mainstream and special (combined) or special-class education for 31 adolescents with spina bifida, and for their primary caretakers. The Peabody Picture Vocabulary Test and the UCLA Loneliness Scale (adolescents) and the Personality Inventory for ...

journal_title：Developmental medicine and child neurology

authors： Lord J,Varzos N,Behrman B,Wicks J,Wicks D

更新日期：1990-01-01 00:00:00

abstract：:Returning ventilator-dependent children to the home environment has become a well-accepted occurrence. The success of a home program depends on careful pre-discharge planning in order to ensure the child's medical safety, and adequate preparation to ensure the child's and family's adjustment to an active community lif...

journal_title：Developmental medicine and child neurology

authors： Gilgoff IS,Helgren J

更新日期：1992-10-01 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：:Cutaneous reflex responses in the human jaw-closing system to low-threshold, mechanical stimulation were investigated in 30 four- to six-year-old children with normal speech and in seven children with disordered speech. Responses of these children were smaller and less frequently observed than those of a seven- to eig...

journal_title：Developmental medicine and child neurology

authors： Wood JL,Smith A

更新日期：1992-09-01 00:00:00

abstract：AIM:In female children with drug-resistant seizures and developmental delay from birth, atypical Rett syndrome caused by mutations in the CDKL5 gene should be considered. Several clinical features resemble classic Rett syndrome. Respiratory and sleep abnormalities are frequently present in Rett syndrome, whereas little...

journal_title：Developmental medicine and child neurology

authors： Hagebeuk EE,van den Bossche RA,de Weerd AW

更新日期：2013-05-01 00:00:00

abstract：AIM:to improve understanding of brain function in children with severe dyslexia in terms of minor neurological dysfunctions (MNDs). METHOD:one hundred and four children (81 males, 23 females; age range 7-12y; mean age 9y 7mo, SD 1y 2mo;) with severe dyslexia (the presence of a Full-scale IQ score of ≥ 85, retardation ...

journal_title：Developmental medicine and child neurology

authors： Punt M,DE Jong M,DE Groot E,Hadders-Algra M

更新日期：2010-12-01 00:00:00

abstract：AIM:To determine whether assisted reproductive technologies (ART) were more likely to be the method of conception in singletons with cerebral palsy (CP) than in those without CP. METHOD:Singletons with CP born between 1991 and 2004 were selected from the Victorian Cerebral Palsy Register and matched for birth year to ...

journal_title：Developmental medicine and child neurology

authors： Reid SM,Jaques AM,Susanto C,Breheny S,Reddihough DS,Halliday J

更新日期：2010-07-01 00:00:00

abstract：:Cerebral palsy (CP) is a complex disorder and children frequently have multiple impairments. Dystonia is a particularly frustrating impairment that interferes with rehabilitation and function and is difficult to treat. Of the available treatments, deep brain stimulation (DBS) has emerged as an option with the potentia...

journal_title：Developmental medicine and child neurology

authors： Sanger TD

更新日期：2020-01-01 00:00:00

abstract：AIM:To conduct a systematic literature review on patients with biphasic disease with herpes simplex virus (HSV) encephalitis followed by anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. METHOD:We conducted a case report and systematic literature review (up to 10 December 2016), focused on differences between h...

journal_title：Developmental medicine and child neurology

authors： Nosadini M,Mohammad SS,Corazza F,Ruga EM,Kothur K,Perilongo G,Frigo AC,Toldo I,Dale RC,Sartori S

更新日期：2017-08-01 00:00:00

abstract：:Four infants were studied who failed to show any visual interest or following responses in the first three months of life. Although no definite ocular abnormalities were found at the time of presentation, both the parents and their medical advisers initially had serious concerns about the infants' visual prognosis. In...

journal_title：Developmental medicine and child neurology

authors： Mellor DH,Fielder AR

更新日期：1980-06-01 00:00:00

abstract：:The authors studied the intellectual outcome of 45 of the 47 schoolchildren who had been born with very low birthweights (less than 1501 g) in Wolverhampton between 1975 and 1978 and were free of major handicap. Their outcome was compared with that of a control group matched for age, sex, race and social class. The ve...

journal_title：Developmental medicine and child neurology

authors： Lloyd BW,Wheldall K,Perks D

更新日期：1988-02-01 00:00:00

abstract：:High rates of neurological complications related to congenital HIV infection have been reported, but often it has been difficult to delineate those clinical impairments specifically related to viral infection of the developing nervous system. The present study attempted to hold causative environmental factors constant...

journal_title：Developmental medicine and child neurology

authors： Diamond GW,Gurdin P,Wiznia AA,Belman AL,Rubinstein A,Cohen HJ

更新日期：1990-11-01 00:00:00

abstract：:Multiple epidemiological variables of 131 children with spina bifida born during 1970 and 1979 in a seven-county urban/rural region of south-western Ohio were analyzed retrospectively via personal interviews, hospital and clinic records, and birth and stillbirth certificates. The estimated incidence of spina bifida wa...

journal_title：Developmental medicine and child neurology

authors： Crowe CA,Heuther CA,Oppenheimer SG,Barth LD,Jeffrey E,Reinhart S

更新日期：1985-04-01 00:00:00

abstract：:Thrombotic and thromboembolic complications are the main causes of morbidity and mortality in patients with homocystinuria. However, it is unusual for thrombosis and infarction to be the presenting feature leading to investigation for homocystinuria and cerebrovascular lesions in the first year of life. We describe a ...

journal_title：Developmental medicine and child neurology

authors： Cardo E,Campistol J,Caritg J,Ruiz S,Vilaseca MA,Kirkham F,Blom HJ

更新日期：1999-02-01 00:00:00

abstract：:Anti-Helicobacter pylori antibodies were determined in 157 institutionalised Cantonese children, mean age 9.5 +/- 3.9 (SD) years, with profound neurodevelopmental disabilities. Eighty-seven (55.4%) were H. pylori seropositive compared with four of 50 (8%, P > 0.0002) of an age-matched control group, mean age 7.2 +/- 4...

journal_title：Developmental medicine and child neurology

authors： Lewindon PJ,Lau D,Chan A,Tse P,Sullivan PB

更新日期：1997-10-01 00:00:00

abstract：:The objective of this study was to examine the descriptive epidemiology of vision impairment among 6- to 10-year-old children in metropolitan Atlanta, Georgia, USA. Children with vision impairment (n=310; 42% black, 56% white; 57% male, 43% female), defined as a best corrected visual acuity in the better eye of 20/70 ...

journal_title：Developmental medicine and child neurology

authors： Mervis CA,Boyle CA,Yeargin-Allsopp M

更新日期：2002-08-01 00:00:00

abstract：:The aim of this study was to compare the characteristics of the first demyelinating event between acute disseminated encephalomyelitis (ADEM) and multiple sclerosis (MS). Children with acute demyelinating disease of the central nervous system and an abnormal brain magnetic resonance image (MRI) were studied. Patients ...

journal_title：Developmental medicine and child neurology

authors： Alper G,Heyman R,Wang L

更新日期：2009-06-01 00:00:00

abstract：:The authors used the Teller acuity cards to assess the visual acuity of 51 infants and children with Down syndrome aged between two months and 18 years. The success rate and test times were comparable to those reported for normally developing children. Even those subjects in the study who were free of ocular disorders...

journal_title：Developmental medicine and child neurology

authors： Courage ML,Adams RJ,Reyno S,Kwa PG

更新日期：1994-07-01 00:00:00

abstract：:This study evaluated the effectiveness of soft splints made from polyurethane foam in reducing severe knee-flexion contractures of patients with cerebral palsy. The splints were applied nightly over a period of 10 months. Knee-flexion contractures were reduced by an average of 24 degrees in all patients. Younger patie...

journal_title：Developmental medicine and child neurology

authors： Anderson JP,Snow B,Dorey FJ,Kabo JM

更新日期：1988-08-01 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：:The authors assessed 137 VLBW children and 162 controls for laterality by observation and questionnaire at 12 years of age. A significantly higher proportion of the VLBW children were either left-handed or mixed-handed. A number of motor cognitive and educational outcome variables were measured. Impaired manual dexter...

journal_title：Developmental medicine and child neurology

authors： Powls A,Botting N,Cooke RW,Marlow N

更新日期：1996-07-01 00:00:00

abstract：:Neural-tube defects were produced by one of two mechanical perturbations in an amphibian model system: newly-formed neural tubes were slit dorsally, or an intrinsic mass (an eye primordium transplanted to the neural plate) was introduced to prevent dorsal closure. Electron microscopic analyses showed that the resultin...

journal_title：Developmental medicine and child neurology

authors： Katz MJ

更新日期：1984-10-01 00:00:00

abstract：:Functional impairments can limit a child's ability to participate in the experiences of childhood. This'deprivation'can, in turn, have a negative effect on such children's development, academic performance, and quality of life, as well as on the lives of their caregivers and families. Many adults use assistive devices...

journal_title：Developmental medicine and child neurology

authors： Henderson S,Skelton H,Rosenbaum P

更新日期：2008-02-01 00:00:00

abstract：:There is increasing interest in the role of autoantibodies in acquired autoimmune central nervous system disorders. N-methyl-D-aspartate receptor (NMDAR) encephalitis is an autoimmune encephalitis defined by the presence of autoantibodies that bind to the NMDAR. Although there is evidence of NMDAR antibody pathogenici...

journal_title：Developmental medicine and child neurology

authors： Dale RC,Pillai S,Brilot F

更新日期：2013-02-01 00:00:00