bluuebunny/crossref_metadata_2025 huggingface dataset:
Altered pathways for auditory discrimination and recognition memory in preterm infants
Authors: Therien Jill M , Worwa Cathy T , Mattia Frank R , DeRegnier Raye‐Ann O
Published: July 2010

Preterm infants are at increased risk for cognitive disorders, including impairments in recognition memory. This study evaluated the effects of extreme prematurity on the neural pathway for auditory recognition memory using event‐related potentials (ERPs), a neurophysiological technique widely used in cognitive neuroscience. ERPs were recorded at term postmenstrual age in 35 preterm infants born at less than 32 weeks’gestation (22 males, 13 females; mean birthweight ([BW] 1154g, SD 374g) with normal brain ultrasounds, compared with 40 healthy, term newborns (1 to 3 days of age; 20 males, 20 females; BW 3672g, SD 420g). Because infants must be able to detect and discriminate sounds before recognizing them, two paradigms were used to assess these functions. The first evaluated the detection and discrimination of speech sounds. The second tested recognition of the mother's voice compared with a stranger's. Results showed significantly different patterns of speech sound discrimination in preterm infants compared with term infants. No evidence of maternal voice recognition was elicited from the preterm infants. No specific patterns of auditory detection or discrimination were associated with patterns of recognition memory, suggesting that the function of multiple neural pathways may have been altered in this group of preterm infants. These results provide a functional corroboration of magnetic resonance imaging studies showing effects of prematurity on early brain development, even among preterm infants with normal cranial ultrasonography.
Neurocognitive profiles in Salla disease
Authors: Alajoki Liisa , Varho Tarja , Posti Kristiina , Aula Pertti , Korhonen Tapio
Published: July 2010

Salla disease, a free sialic acid storage disorder, is one of the 36 currently known disorders in Finland that form the Finnish disease heritage. Salla disease leads to learning disability* with a wide clinical variation. Two main categories of the disease have been classified: a conventional subtype and a severe subtype with more severe defects. We present detailed neurocognitive profiles of 41 Finnish patients with Salla disease (19 females, 22 males; age range 11mo to 63y, median 19y). The neurocognitive development of patients with Salla disease was assessed by psychological and neuropsychological testing. All patients were also examined by a paediatric neurologist and a speech therapist. The characteristic cognitive profile consisted of a lower non‐verbal performance (mean developmental age 13mo) compared with linguistic skills (mean developmental age 17mo). In particular, spatial and visual‐constructive impairments were typical of these patients. Tactile and visual discrimination of forms was poor. Tasks demanding hand–eye coordination, maintenance of visual attention, and those requiring short‐term visual memory and executive skills were performed better. Receptive language skills were notably better compared with expressive speech. The patients’interactive and non‐verbal communication skills were quite strong. Another typical pattern with Salla disease was severe motor disability. After the second decade of life, the decline in these skills was more pronounced than patients’cognitive deterioration. Our results indicate that even though there is a considerable variation in the clinical findings of patients with Salla disease, the characteristic neurocognitive profile of the disease can be outlined.
Short‐term outcome of multilevel surgical intervention in spastic diplegic cerebral palsy compared with the natural history
Authors: Gough Martin , Eve Linda C , Robinson Richard O , Shortland Adam P
Published: July 2010

Outcome in 24 ambulant children with spastic diplegic cerebral palsy, in whom multilevel surgical intervention was recommended following gait analysis, is reviewed. Twelve children had surgical intervention (treatment group; eight males, four females; mean age 9 years 10 months, SD 3 years 4 months) while the other 12 did not (control group; five males, seven females; mean age 10 years 1 month, SD 2 years 11 months). All children had interval three‐dimensional gait analyses (mean time between analyses: control group, 14.1 months; treatment group, 17.9 months). At follow‐up the control group (mean age 11 years 9 months) showed a significant increase in minimum hip and knee flexion in stance which was not related to age, the interval between analyses, changes in the passive joint range of motion, nor changes in anthropometric measurements. The treatment group (mean age at follow‐up 11 years 3 months) showed a significant improvement in minimum knee flexion and in ankle dorsiflexion in stance. Parents of nine children said their child's walking distance had increased following intervention. Of five children using posterior walkers preoperatively, two continued to use them postoperatively; two were using crutches or sticks and the remaining child walked independently. Two children who walked independently preoperatively used sticks postoperatively for community ambulation. The deterioration seen in the kinematics of the control group suggests that previous outcome studies comparing postoperative gait with preoperative gait have underestimated the immediate effects of surgery. It also raises concerns about the long‐term effects of surgical intervention.
Effects of phototherapy on cerebral haemodynamics in preterm infants: is fibre‐optic different from conventional phototherapy?
Authors: Dani Carlo , Bertini Giovanna , Martelli Elena , Pezzati Marco , Filippi Luca , Prussi Clara , Tronchin Michele , Rubaltelli Firmino F
Published: July 2010

We hypothesized that conventional phototherapy (CPT) and fibre‐optic phototherapy (FPT) could exert different effects on cerebral blood perfusion. Our aim was to assess this hypothesis in a prospective study of the cerebral haemodynamics in preterm infants. Twenty‐three infants (gestational age <34 weeks) were randomized for CPT (n=12) and for FPT (n=11). Cerebral Doppler ultrasounds were performed on all infants immediately before phototherapy (time 0), 6–12 hours (time 1) and 24–36 hours (time 2) after the start of phototherapy, and 6–12 hours after discontinuing phototherapy (time 3). CPT and FPT were associated with a significant increase of peak‐systolic blood flow velocity and mean blood flow velocity at time 1 and 2, which disappeared at time 3, whereas end‐diastolic blood flow velocity and resistance index were unchanged. No difference was shown between the groups. CPT and FPT were found to exert similar effects on cerebral haemodynamics. Both were associated with an increase of cerebral blood flow velocity which ended when phototherapy was stopped.
Variability of clinical expression and evolution of spinal deformity in a family with late detection of dopa‐responsive dystonia
Authors: Tsirikos Athanasios I , Carr Lucinda J , Noordeen Hilali H
Published: July 2010

This case report documents an unusual presentation of dopa‐responsive dystonia (DRD) in three siblings (two females, one male) which simulated cerebral palsy (CP) and describes the evolution of their spinal deformity in relation to growth and responsiveness to levodopa therapy. The siblings were normal at birth with a negative history of neurological disease or spinal imbalance. They showed marked phenotypic variation but all developed progressive scoliosis and neurological impairment with mixed spastic dystonic features, leading to the misdiagnosis of spastic dystonic CP. Age at establishment of the diagnosis of DRD and levodopa trial for the three patients was 12 years, 9 years 6 months, and 3 years 6 months respectively. In patients 1 and 3, spinal deformity responded dramatically to levodopa treatment and neurological symptoms were ameliorated. Patient 2 developed a rigid scoliotic curve and, despite neurological improvement with levodopa, the spinal curvature remained unresponsive necessitating surgical correction. Spinal decompensation is a common manifestation of DRD, which with early diagnosis and initiation of levodopa treatment has an excellent prognosis. This report highlights the variability of clinical expression in DRD and the importance of an adequate trial of levodopa when unexplained dystonic features are documented.
Changes in the auditory nerve brainstem evoked responses in a case of maple syrup urine disease
Authors: Geal‐Dor Miriam , Adelman Cahtia , Levi Haya , Goitein Kalman , Sohmer Haim
Published: July 2010

Maple syrup urine disease (MSUD) is a rare metabolic disease due to deficiency in the enzyme that breaks down branched chain amino acids. Lack of the enzyme causes accumulation of these amino acids and, if untreated, causes severe neurological damage. A case study of a 10‐day old female infant, born after 40 weeks’gestation with a birthweight of 2740g with MSUD hospitalized in the acute stage with respiratory failure and severe brain oedema is described. As part of the neurological evaluation, auditory nerve brainstem evoked response testing was conducted and revealed bilateral presence of the first wave from the auditory nerve, with no later brainstem waves. Over the course of days when her condition improved following dialysis treatment and a diet to reach balanced levels of branched chain amino acids, the later brainstem waves appeared on one side, and several weeks later they were also observed on the other side. The possible mechanisms of the reversibility of the appearance of brainstem waves in this case are discussed.
Motor impairments, neurological signs, and developmental level in individuals with Angelman syndrome
Authors: Beckung Eva , Steffenburg Suzanne , KyIllerman Mårten
Published: July 2010

The aim of this study was to examine the character of motor dysfunction in individuals with Angelman syndrome (AS). Thirty‐three children and adolescents (median age 6 years, range 18 months to 23 years) were consecutively investigated for learning disability*, epilepsy, and motor dysfunction to detect suspected AS. Twenty‐three individuals (13 males, 10 females; median age 5 years 6 months, range 21 months to 23 years) fulfilled international consensus criteria for AS. Clinical diagnosis was supported by a positive DNA methylation test in eleven participants. Ten participants (seven males, three females; median age six years, range 18 months to 13 years) did not comply with consensus criteria for AS and were regarded as a comparison group. There was no significant difference between the AS and the comparison group regarding age or developmental level. Median developmental quotient level was 26 months (range 8 to 63 months); median gross motor developmental level in participants with AS was 24 months (range 8 to 60 months); median fine motor developmental level was 15 months (range 6 to 60 months). Muscle strength, spasticity, tremor, and coactivation were assessed: distal lower limb spasticity, ataxic like gait, stiff lower limbs, and the presence of coactivation during locomotion were significantly more frequent in participants with AS than in the comparison group (p < 0.05). Asymmetry of muscle strength and spasticity were frequent. Neurological abnormalities were insufficient for a diagnosis of cerebral palsy and impeded function less than immaturity in both AS groups. Risk of increasing impairment needs to be anticipated to prevent negative long‐term effects of muscle imbalance and motor asymmetries in individuals with AS.
Adolescents with my elomeningocele: activities, beliefs, expectations, and perceptions
Authors: Buran Constance F , Sawin Kathleen J , Brei Timothy J , Fastenau Philip S
Published: July 2010

The Carnegie Council on Adolescent Development, USA has identified activities, beliefs, and perceptions critical for healthy development. The aim of this study was to measure the activities, beliefs and expectations, and perceived outcomes of adolescents with myelomeningocele. In this descriptive study, 66 adolescents with myelomeningocele, aged 12 to 21 years and functioning at grade level, completed a structured interview. Thirty‐eight (58%) of the participants were female. The level of lesion was distributed as follows: 30% had thoracic level lesions, 32% had lumbar level lesions, 15% had lumbosacral level lesions, and 23% of the sample had sacral level lesions. Instruments used had both established reliability and validity (WeeFIM, Harter's Self‐Perception Profile, Austin's Child Attitude Toward Illness Scale, and Snyder's Hope Scale, Adolescent Decision‐Making Inventory, Adolescent Coping Scale) or were scales developed for this study (Adolescent Activities Inventory, Future Expectations Scale, Communication Efficacy, and Adolescent Self‐Management and Independence Scale). Scale reliabilities ranged from 0.70 to 0.88. These participants, though hopeful and positive in their attitudes toward myelomeningocele and generally able to perform activities of daily living independently, are not engaging in the full range of adolescent activities (decision making, friendship activities, and household responsibilities) and achieving positive outcomes (self‐management and job) necessary to make a successful transition to adulthood. This might explain why so many individuals with myelomeningocele are underemployed and are not living independently as young adults.
Participation of children with cerebral palsy is influenced by where they live
Authors: Hammal Donna , Jarvis Stephen N , Colver Allan F
Published: July 2010

The study aimed to determine whether degree of participation of children with cerebral palsy (CP) is influenced by where they live, as predicted by the social model of disability. Ninety‐two per cent children with CP resident in Northern England and born 1991‐1996 were entered into the study. Participation was measured by the Lifestyle Assessment Score and its six component domain scores. Regression analysis was used to investigate variations in participation. There were 443 children (265 male, 178 female; mean age 4 years 8 months [SD1 year 1 month] at time of assessment) in the study. In the regression analysis the following factors remained significant with regard to level of participation: type of CP (167 with hemiplegia, and of those remaining 240 with bilateral spasticity); intellectual impairment (105 with IQ<50,113 with IQ 50 to 70, and 225 with IQ>70); presence of seizures (115 with active epilepsy); walking disability (114 unable to walk, 81 restricted and needing aids, 186 restricted but unaided, 62 unrestricted); communication problems (61 no formal communication, 51 use alternative formal methods, 126 some delay or difficulty, 205 no communication problems). After adjustment for these factors, there were significant variations with regard to level of participation in the Lifestyle Assessment Score by district of residence. The magnitude of these variations in Lifestyle Assessment Score between districts is similar to that accounted for by severe intellectual impairment. Similar models were obtained for four of the six domain scores. For one of these four, restriction of social interaction, the significant variation between districts was minimally influenced by the underlying type of CP, walking ability, or presence of seizures. Higher levels of participation among children with CP are associated with residence in certain districts. This is not attributable to variations in case‐mix or functional capacity of the children. Participation of children with disability is partly a product of their environment.
Control of prehension in hemiparetic cerebral palsy: similarities and differences between the ipsi‐ and contra‐lesional sides of the body
Authors: Steenbergen Bert , Van Der Kamp John
Published: July 2010

This study aimed at broadening our insight into ipsi‐ and contra‐lesional control of prehension after unilateral brain damage. Six male adults with hemiparetic cerebral palsy (mean age 17 years 3 months, SD 15 months) performed unrestricted grasping of discs that differed in size (40, 60, and 80mm in diameter) and which were placed at different distances from the participants (150mm and 30mm). A precalibrated Optotrak 3020 system was used for recording motion. Kinematics of the transport and grasp component, and hand orientation at the moment of grasping, were determined. A marker on the wrist was used to calculate the kinematics of the transport component. The distance between the markers on the index finger and thumb was used for the calculation of the grasp component. Kinematic variables of the transport and grasp component were remarkably similar between both sides of the body. However, with the contralesional side, more time was spent in contact with the object before it was lifted, and movements were performed less fluently compared with the ipsi‐lesional side. Maximum grasp aperture was attained very late during reaching. For final hand orientation, results showed a large standard deviation both within and between participants. These findings show that, despite the ostensible awkward prehension movements of the contralesional side (slowness and decreased fluency), similarities in the kinematics between both sides of the body are present, which may be indicative of intact central control of the movement. The results of variant final hand orientation, combined with the relative late occurrence of peak aperture, suggest that these participants encounter difficulties with forward planning and may use a step‐by‐step control strategy.
Visual search in school‐aged children with unilateral brain lesions
Authors: Netelenbos J Bernard , Van Rooij Louise
Published: July 2010

In this preliminary study, visual search for targets within and beyond the initial field of view was investigated in seven school‐aged children (five females, two males; mean age at testing 8 years 10 months, SD1 year 3 months; range 6 to 10 years) with various acquired, postnatal, focal brain injuries (haematoma, haemorrhage, meningioma, neuroblastoma, and cerebral abscess) in anterior or posterior sites of the left or right hemisphere, and seven control children (matched for age and sex) were also studied. All participants attended mainstream primary schools. The children with lesions underwent surgery after diagnosis (mean age at diagnosis 5 years 4 months, SD 2 years 7 months). Group results indicated that for the overall scores on three psychometric tests of visuospatial and fine motor abilities (Southern California Figure Ground Perception Test, Visual Organization Test, and Visual‐Motor Integration Test), no difference between the children with left and right lesions was present. However, children with lesions in the right hemisphere, and not in the left hemisphere, took significantly more time than the controls to locate visual targets presented within and beyond the field of view. Examination of individual data suggested that, in accordance with brain imaging research, right‐sided anterior cerebral lesions sustained in early childhood might have an enduring detrimental effect on voluntary visual search performance during development. This persistent effect of early brain injury might imply that developmental plasticity of the brain does not apply to certain specific functions of particular areas of the right hemisphere.
Interhemispheric transfer in high‐functioning children and adolescents with autism spectrum disorders: a controlled pilot study
Authors: Nydén Agneta , Carlsson Arvid , Gillberg Christopher , Carlsson Maria
Published: July 2010

Autism is a neurodevelopmental disorder with strong genetic influences. Clinical experience and limited empirical evidence support the view that autism may be associated with aberrant interhemispheric information transfer. This empirical controlled study examined whether, at neuropsychological testing, children with autism showed problems with interhemispheric information transfer. The study included auditory, visual, and motor measures covering information transfer within, as well as across, modalities. Thirty children (24 males, 6 females; mean age 12 years 8 months, SD 2 years 8 months; range 9 years 5 months to 17 years 5 months) without learning disability* but with autism spectrum disorders were compared with 30 children from a mainstream school matched for age, sex, and IQ>75. Children with autism spectrum disorder performed significantly worse than the comparison group on most of the tests (p=0.02 for auditory perception and attention, p=0.005 for visual perception, p=0.0001 for motor control, p=0.04 for tactile perception). Results support the notion that aberrant interhemispheric transfer may be involved in the pathogenesis or clinical course of autism. The findings were not accounted for by lower IQ in the group with autism.
Reliability of family report for the Gross Motor Function Classification System
Authors: Morris Christopher , Galuppi Barbara E , Rosenbaum Peter L
Published: July 2010

The aim of this study was to determine the reliability of family reports for the Gross Motor Function Classification System (GMFCS), a condition‐specific discriminative measure of severity of movement disability for children with cerebral palsy (CP). We conducted a cross‐sectional survey using a short questionnaire with families of children with CP for whom we already had ratings of GMFCS level made by a health professional. We assessed the potentially confounding effect of whether the family had discussed the GMFCS with a professional. Two hundred and one questionnaires were posted to families of which 97 (48%) were completed and returned. Mean age of the children (53 males, 40 females) was 9 years 5 months (SD 1 year 1 month), range 6 to 11 years. Children of the families who responded encompassed the spectrum of types and distribution of impairment and severity of movement disability. The intraclass correlation coefficient (ICC) of agreement between professionals and families who had discussed their child's GMFCS level with a health professional (n=35) was 0.97 (95% confidence interval [CI] 0.96 to 0.98); for those who had not (n=52) the ICC was 0.92 (95% CI 0.91 to 0.93); and for the whole sample (n=93) the ICC was 0.94 (95% CI 0.90 to 0.96). Stability between ratings made by health professionals for children when they were in the 4 to 6 year age band of the GMFCS and ratings made by families for the same children when they were in the 6 to 12 year age band (n=35) was ICC=0.96 (95% CI 0.95 to 0.97). The excellent agreement demonstrated in this study suggests that family reports of the GMFCS made by using our questionnaire provide a reliable method for measuring gross motor function in children between 6 and 12 years old. This might be more efficient for observational studies of large populations, experimental research, or community health administration than direct observation, particularly when professional assessment is not feasible.
Outcome in patients with profound biotinidase deficiency: relevance of newborn screening
Authors: Weber Peter , Scholl Sabine , Baumgartner E Regula
Published: July 2010

Profound biotinidase deficiency (PBD) is an autosomal recessively inherited disorder of biotin metabolism, which can be detected by newborn screening and treated with biotin supplementation. Children were investigated in whom PBD was detected by newborn screening and who were treated presymptomatically, or who were not screened but were diagnosed and treated after experiencing initial clinical symptoms (symptomatic children). In a follow‐up of our study group, differences in development, social and behavioural adaptation, and signs of residual impairment were examined. Parents and physicians of children with PBD completed questionnaires which included the Child Behavior Checklist and Vineland Adaptive Behavior Scales. Information was obtained for 37 children (24 males, 13 females; median age at recruitment 6 years 8 months, range to 6 months‐20 years; median length of follow‐up 6 years 6 months, range 5 months to 18 years 3 months). All 11 symptomatic children had residual enzyme activity of <1%, or variants of the Michaelis‐Menten constant which were not detected by newborn screening. Some symptomatic children showed residual impairments: hearing impairment (n=2), optic atrophy (n=2), both hearing impairment and optic atrophy (n=2). In addition, symptomatic children had a higher risk of delayed motor and speech development. No child with PBD detected by newborn screening (n=25) had auditory or visual loss; and milestones of speech development and motor skills were reached at an appropriate age. There was no significant difference in social adaptation or behavioural problems between symptomatic and asymptomatic children. Symptomatic children often have developmental delay and are at risk of irreversible damage to auditory, visual, or central nervous functions; whereas children with PBD (established presymptomatically following newborn screening) treated with biotin supplementation, do not experience these effects.
Botulinum toxin in the management of cerebral palsy
Authors: Jefferson Rosalind J
Published: July 2010

Botulinum toxin has rapidly gained wide acceptance as a treatment for focal spasticity, and is becoming more readily available. Early studies established its effectiveness, but many issues are still open for discussion. After a brief re view of the historical and scientific development of botulinum toxin as a clinical tool and an outline of previous work in the field, some important questions are discussed in the light of more recent trials.
Association between visual perceptual deficits and motor deficits in children with developmental coordination disorder
Authors: Waelvelde Hilde Van , Weerdt Willy De , Cock Paul De , Smits‐Engelsman Bouwien C M
Published: July 2010

This study explored the relation between a motor‐free visual perceptual deficit, different visual‐motor integration deficits, and different motor skills in children with developmental coordination disorder (DCD). Thirty‐six children (22 males), aged 9 or 10 years, with DCD and a control group (n=36), matched for age and sex, were assessed with the Movement Assessment Battery for Children (MABC), a ball‐catching test, a jumping test, a timed response task to a visual moving stimulus, and the Beery‐Buktenica Developmental Test of Visual‐Motor Integration, incorporating copying, visual discrimination, and tracing tasks. Children with DCD performed significantly worse than the control group on all measures. The visual discrimination task did not correlate significantly with any of the motor tasks. The visual timing task correlated significantly with the ball‐catching test in the DCD group. The copying test was significantly correlated with the MABC in the DCD group. The association between visual‐perceptual deficits and motor tasks was shown to be task specific.
Anaerobic muscle performance of children after long‐term recovery from Guillain‐Barré syndrome
Authors: Fehlings Darcy , Vajsar Jiri , Wilk Boguslaw , Stephens Derek , Bar‐Or Oded
Published: July 2010

The aim of this study was to evaluate anaerobic muscle performance in children after long‐term recovery from Guillain‐Barré syndrome (GBS). Participants were recruited from all children and adolescents with GBS admitted to The Hospital for Sick Children, University of Toronto, Canada, between 1988 and 1995. We assessed 17 children (nine males, eight females; mean age at GBS diagnosis 7 years 11 months, SD 4 years 2 months; mean age at testing 14 years 1 month) more than two years after acute GBS. Participants completed the Wingate anaerobic test to evaluate mean and peak muscle power. For mean arm muscle power (mean 47.5% [SD 17.4%] of normal), only two participants were in the normal range. For mean leg muscle power (mean 83% [SD 28.3%] of normal), 15 participants were in the normal range. For arm peak power (mean 92.6% [SD 20.7%] of normal), 12 participants were in the normal range. For leg peak power (mean 116.3% of normal, SD 15.8%), all participants were in the normal range. Detailed manual muscle testing with the modified Medical Research Council scale was done on 34 muscle groups. Data were pooled to give a mean arm and leg muscle strength score (9.7, SD 0.30 and 9.4, SD 0.50 respectively). Pearson's correlations of muscle endurance with arm and leg strength were not significant. Children with GBS have excellent long‐term recovery of peak muscle power. Muscle endurance, measured by mean muscle power, was normal in the legs but markedly low in the arms. Pediatric rehabilitation programs after GBS should specifically target endurance of arm muscles.
Paradoxical embolism in a preterm infant
Authors: Filippi Luca , Palermo Ludovica , Pezzati Marco , Dani Carlo , Matteini Maria , Cristofaro M Teresa De , Rubaltelli Firmino F
Published: July 2010

Cerebral paradoxical embolism has not until now been described as a cause of cryptogenic stroke in newborn infants. A male infant was born at 27 weeks 2 days’gestational age by emergency Caesarean section in a twin pregnancy because of intrauterine growth retardation and absence of diastolic flow in the twin. His birthweight was 950g (50th centile). Apgar scores were 7 and 8 at 1 and 5 minutes respectively. At 17 days of life he showed sudden respiratory distress and signs of encephalopathy. Presence of deep venous thrombosis, patent foramen ovale (PFO), and clinical progression suggested paradoxical embolism which were confirmed by neuroradiological findings. The high incidence of PFO and central venous catheter‐related deep venous thrombosis in newborn infants suggest that paradoxical embolism is probably a more common complication than has been thought.
Is exposure to cocaine or cigarette smoke during pregnancy associated with infant visual abnormalities?
Authors: Latal Beatrice , Ferriero Donna M , Partridge J Colin , Dempsey Delia A , Good William V
Published: July 2010

The aim of this study was to assess the association between cocaine or cigarette smoke exposure in utero and visual outcome. A total of 153 healthy infants (89 males, 64 females; gestational age range 34 to 42 weeks) were prospectively enrolled in a masked, race‐matched study. Quantitative analyses of urine and meconium were used to document exposure to cigarette smoke and cocaine. Infants with exposure to other illicit drugs, excepting marijuana, were excluded. At 6 weeks of age, grating acuity and visual system abnormalities (VSA; eyelid oedema, gaze abnormalities, and visual inattention) of 96 infants from the original study sample were assessed with the Teller acuity card procedure and a detailed neurological examination. Neither cocaine nor cigarette smoke exposure was associated with acuity or VSA. However, VSAs were associated with abnormal neurological examination, independent of drug exposure and other risk factors (odds ratio 7.9; 95% confidence interval 2.0 to 31.5; p=0.004). This unexpected finding could prove a helpful clinical marker for the infant at risk for neurological abnormalities.
Effectiveness of selective muscle‐release surgery for children with cerebral palsy: longitudinal and stratified analysis
Authors: Kondo Izumi , Hosokawa Kanoko , Iwata Manabu , Oda Atsushi , Nomura Tadao , Ikeda Keiichi , Asagai Yoshimi , Kohzaki Tomokazu , Nishimura Hitoshi
Published: July 2010

The purpose of this study was to determine the effectiveness of muscle‐release surgery for children with cerebral palsy (CP) using longitudinal and stratified analysis. Twenty‐five children with CP (15 females, 10 males; age range 4 to 16 years; mean age 8 years 2 months, SD 3 years 2 months) were selected from five treatment centres in Japan. Twenty‐two children had spastic diplegia, two had spastic quadriplegia, and one had athetospastic quadriplegia. Motor function for each child was assessed using the Gross Motor Function Measure (GMFM). Assessment was conducted on eight separate occasions: 1 month and 1 week before surgery, and 1,2,4,6,9, and 12 months after surgery. Participants’motor function before surgery was classified using the Gross Motor Function Classification System (GMFCS). Six children were classified at level I, three at level II, six at level III, and 10 at level IV. A significant difference was found after surgery in the GMFCS levels III and IV groups (p<0.05). Improvement in GMFM scores between 1 week before surgery and 12 months after surgery were 1,5,8.5, and 8.5 for GMFCS levels I to IV respectively. Results indicate that this treatment is advantageous for improving motor function in children within GMFCS levels III and IV.
Motor impairments in young children with cerebral palsy: relationship to gross motor function and everyday activities
Authors: Østensjø Sigrid , Carlberg Eva Brogren , Vøllestad Nina K
Published: July 2010

In this study we assessed the distribution of spasticity, range of motion (ROM) deficits, and selective motor control problems in children with cerebral palsy (CP), and examined how these impairments relate to each other and to gross motor function and everyday activities. Ninety‐five children (55 males, 40 females; mean age 58 months, SD18 months, range 25 to 87 months) were evaluated with the modified Ashworth scale (MAS), passive ROM, the Selective Motor Control scale (SMC), the Gross Motor Function Measure (GMFM), and the Pediatric Evaluation of Disability Inventory (PEDI). Types of CP were hemiplegia (n=19), spastic diplegia (n=40), ataxic diplegia (n=4), spastic quadriplegia (n=16), dyskinetic (n=9), and mixed type (n=7). Severity spanned all five levels of the Gross Motor Function Classification System (GMFCS). The findings highlight the importance of measuring spasticity and ROM in several muscles and across joints. Wide variability of correlations of MAS, ROM, and SMC indicates a complex relationship between spasticity, ROM, and selective motor control. Loss of selective control seemed to interfere with gross motor function more than the other impairments. Further analyses showed that motor impairments were only one component among many factors that could predict gross motor function and everyday activities. Accomplishment of these activities was best predicted by the child's ability to perform gross motor tasks.
Congenital suprabulbar palsy: a distinct clinical syndrome of heterogeneous aetiology
Authors: Suresh Poovathinal A , Deepa Cherukunnathu
Published: July 2010

Congenital suprabulbar palsy is clinically characterized by problems of feeding, swallowing, drooling, and dysarthria. Epilepsy, delayed motor, cognitive, and language development, as well as learning disabilities* may co‐exist. Aetiology of the syndrome is diverse, yet studies often attribute it to specific entities. We report on nine patients (seven males, two females; age range 2 to 20 years), highlighting the heterogeneous causes of suprabulbar palsy using neuroimaging and emphasizing the need for systematic investigation for early detection and management. We identified patients with symmetrical infarcts involving the perisylvian region, apart from already‐recognized conditions, such as congenital bilateral perisylvian syndrome (CBPS; a neuronal migration disorder) and Worster‐Drought syndrome. CBPS simulates Foix‐Chavany‐Marie syndrome in adults because of staged stroke but differs in many respects. Anoxia or ischemia to the developing brain could be a common plausible aetiology. Studies with large groups of patients are required to differentiate the various subgroups and identify essential criteria for diagnosis.
Atypical language lateralization and early linguistic development in children with focal brain lesions
Authors: Chilosi A M , Pecini C , Cipriani P , Brovedani P , Brizzolara D , Ferretti G , Pfanner L , Cioni G
Published: July 2010

The effects of congenital, unilateral, focal brain lesions on early linguistic development and hemispheric lateralization for language were investigated longitudinally in 24 preschool children with hemiplegia(14 males, 10 females), 12 with left hemisphere damage (LHD) and 12 with right hemisphere damage (RHD). A comprehensive linguistic assessment was performed at 2 and 3 years of life; cerebral lateralization for language was measured by the Fused Dichotic Words Listening Test. An early left‐side specificity for language was indicated by the presence of lexical and grammatical delay in most children with LHD. In the dichotic listening test all 12 children with LHD showed a shift of language lateralization from the left to the right hemisphere. Atypical lateralization coefficients (lambda), i.e. values falling more than two standard deviations from the mean of a normative sample, were associated with a delay in lexical and grammatical development, especially after LHD. In addition, cortical‐subcortical‐periventricular lesions rather than solely periventricular damage, and larger lesions rather than small, were associated with the most atypical lateralization coefficients, irrespective of lesion side. Results of this study suggest that language and lateralization data are closely related and that reallocation of language functions in alternative regions of the brain has a cost in terms of a slow rate of language acquisition.
General movements in early infancy predict neuromotor development at 9 to 12 years of age
Authors: Groen Sabina E , De Blécourt Alida C E , Postema Klaas , Hadders‐Algra Mijna
Published: July 2010

Assessment of the quality of general movements (GMs) in early infancy is a powerful instrument to predict cerebral palsy (CP). The aim of the present study is to explore the value of GM assessment in predicting minor neurological dysfunction (MND) at 9 to 12 years of age. Two groups of infants were studied prospectively: 28 low‐risk full‐term infants (11 females, 17 males) and 24 high‐risk infants, mostly born preterm (<37 weeks; 11 females, 13 males). In each group the quality of GMs (normal or abnormal) was assessed during two developmental periods: the age at which‘writhing’GMs occur (36 weeks’postmenstrual age to 7 weeks’postterm) and the age at which‘fidgety’GMs occur (8 to 17 weeks’postterm). Eight of 24 high‐risk infants were diagnosed as having CP at 4 to 9 years of age. The remaining 44 children were followed‐up at 9 to 12 years. In children without CP, quality of GMs at‘fidgety age’was related to neurological condition (normal, simple MND, complex MND) at follow‐up (rho=0.46, p<0.01). Abnormal GMs at‘fidgety‐GM age’showed a specific relationship to the development of coordination problems (χ2=6.1, p=0.01) and fine manipulative disability (Fisher, p<0.05) at 9 to 12 years. This finding supports the notion that the quality of GMs may provide information on the integrity of complex supraspinal circuitries.
Pallister—Killian syndrome: an unusual cause of epileptic spasms
Authors: Sánchez‐Carpintero Rocio , McLellan Ailsa , Parmeggiani Lucio , Cockwell Annette E , Ellis Richard J , Cross J Helen , Eckhardt Susan , Guerrini Renzo
Published: July 2010

Pallister‐Killian syndrome (PKS) is a rare, sporadic, genetic disorder characterized by dysmorphic features, learning disability *, and epilepsy. It is caused by a mosaic supernumerary isochromosome 12p (i[12p]). The i(12p) is rarely found in peripheral blood but it is present in skin fibroblasts. Recognition is essential for cytogenetic diagnosis. We describe a male aged 2 years 6 months and a female aged 11 years with PKS and epileptic spasms (ES). This type of seizure is not unusual in patients with brain malformations and with severe developmental delay, but it is sometimes difficult to recognize without video‐electroencephalogram studies and could be mistaken for other types of seizure or behavioural manifestations. In these two patients with PKS, spasms had late onset, persisted beyond infancy, and were drug resistant. Clinicians should be aware of this possibility in PKS, which appears to be a rare cause of ES.
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect
Authors: Swillen Ann , Feys Hilde , Adriaens Tamara , Nelissen Loes , Mertens Luc , Gewillig Marc , Devriendt Koen , Fryns Jean‐Pierre
Published: July 2010

Velocardiofacial syndrome is identified by a submicroscopic deletion of chromosome 22Q.11 (del22q.11). This study presents data on the early motor development and behaviour of 11 children (8 males, 3 females) with del22q.11 (mean age 41mo, SD 9.7mo) with a congenital heart defect. To control for the impact of the congenital heart defect, a control group of 19 children (15 males, 4 females; mean age 46mo, SD 9mo) with the same types of congenital heart defects but without del22q.11 was selected. Motor development in both groups was measured with the Peabody Developmental Motor Scales‐2. Behaviour was assessed with the Child Behaviour Checklist. Children with del22q.11 scored significantly lower (p<0.05) on motor performance than the children of the control group. Most deficient motor skills were found for the subtests Locomotion and Stationary. On the behaviour questionnaire, a statistically significant (p<0.05) difference between the two groups was found only for the subscale Withdrawn. These data reveal a significant motor delay in many young children with del22q.11, which is not caused by the presence of a congenital heart defect or by behavioural features.
Atypical case of hemiconvulsions‐hemiplegia‐epilepsy syndrome revealing contralateral focal cortical dysplasia
Authors: Bahi‐Buisson Nadia , Kossorotoff Manoelle , Barnerias Christine , Boddaert Nathalie , Bourgeois Marie , Dulac Olivier , Plouin Perrine , Chiron Catherine , Hertz‐Pannier Lucie
Published: July 2010

Hemiconvulsions‐hemiplegia‐epilepsy syndrome (HH/HHE) is a rare epileptic syndrome consisting of a prolonged unilateral convulsion producing a persisting hemiplegia, sometimes followed by epilepsy. We report on a 13‐month‐old male who presented with febrile left‐sided HH syndrome with right hemispheric unilateral cytotoxic oedema followed by hemispheric atrophy on magnetic resonance imaging (MRI). Six months later the child progressively developed refractory focal epilepsy, including right hemiclonic seizures, and nearly continuous left frontal rhythmic spikes, suggesting the presence of a focal cortical dysplasia (FCD). A repeat MRI at 2 years of age showed left frontal FCD. This unusual case of dual pathology ‐ right HH syndrome and left FCD ‐ suggests that some other factor than the malformation determined the prolonged status and brain atrophy. The kinetics of regional cortical maturation could explain this unusual condition.
Muscle biopsy without centrally located nuclei in a male child with mild X‐linked myotubular myopathy
Authors: Goede Christian G E L de , Kelsey Anna , Kingston Helen , Tomlin Pamela I , Hughes M Imelda
Published: July 2010

In children with a myopathy, muscle biopsy, together with the clinical presentation, can guide further investigations. The presence of centrally located nuclei suggests a myotubular myopathy, and gene testing may confirm this diagnosis. We describe a male child with a mild form of X‐linked myotubular myopathy for which repeated muscle biopsy did not show the characteristic pattern of centrally located nuclei. Myotubular myopathy was not contemplated, therefore, until a maternally related relative was shown to have the disorder. Genetic testing showed that the index case carried the same mutation in his MTM1 gene as this relative.
Infant developmental milestones: a 31‐year follow‐up
Authors: Taanila Anja , Murray Graham K , Jokelainen Jari , Isohanni Matti , Rantakallio Paula
Published: July 2010

This study examined the association between infant developmental milestones and educational level at 31 years of age in the Northern Finland 1966 Birth Cohort (n=12 058). Developmental data (age at standing, walking, speaking, and measures of bowel and bladder control) were gathered from children's welfare centres. Information on type of schooling at 14 years of age was reported by children and parents. School achievement at 16 years of age and educational level at 31 years were obtained from national registers. Those who reached infant developmental milestones sooner in their first year of life had significantly better (p<0.05) mean scores in teacher ratings at 16 years, and at 31 years they were more likely to have achieved a better educational level than slower developers. The adjusted odds ratios for individuals who developed more slowly to remain at a basic educational level (7 to 16y) ranged significantly from 1.1 to 1.3. The possibility of advancing from secondary to tertiary level was 1.4 times greater in faster developers than in slow developers. In conclusion, those who develop faster during their first year of life tend to attain higher levels of education in adolescence and adulthood.
Long‐term visual pathology in children with significant perinatal complications
Authors: Adams Russell J , Hall Heather L , Courage Mary L
Published: July 2010

Eye research in infants who experience significant perinatal complications has been restricted to evaluation of structural ocular disease and spatial vision, and results show that these aspects of vision are at increased risk for abnormal or delayed development. To expand upon previous work, a battery of 17 vision tests was employed to assess, comprehensively, long‐term outcome of functional vision. Seventy‐six children (38 males, 38 females), between the corrected ages of 2 years 11 months and 10 years 2 months (mean 6y 6mo) with various significant complications (e.g. very preterm birth, bronchopulmonary dysplasia, intraventricular hemorrhage) were compared to normally developing, age‐matched control children (n=61; mean age 7y 1mo) on measures of visual acuity, contrast sensitivity, stereoacuity, peripheral vision, color vision, astigmatism, and binocular alignment. Results showed that at‐risk children had more test results that fell within the suspect or abnormal range. At‐risk children also had a slightly higher incidence of ocular disorders (e.g. strabismus) and refractive error. These data imply that children who experienced significant perinatal risk factors are at risk for long‐term deficits of functional vision. However, most of these deficits appear to be relatively mild.
Comparing botulinum toxin A with casting for treatment of dynamic equinus in children with cerebral palsy
Authors: Ackman Jeffrey D , Russman Barry S , Thomas Susan Sienko , Buckon Cathleen E , Sussman Michael D , Masso Peter , Sanders James , D'Astous Jacques , Aiona Michael D
Published: July 2010

The purpose of this study was to compare the cumulative efficacy (three treatment sessions) of botulinum toxin A (BTX‐A) alone, casting alone, and the combination of BTX‐A and casting in the management of dynamic equinus in ambulatory children with spastic cerebral palsy (CP). Thirty‐nine children with spastic CP (mean age 5y 10mo, range 3 to 9y) were enrolled in the study. A multicenter, randomized, double blind, placebo‐controlled prospective study was used. Children were randomly assigned to one of three treatment groups: BTX‐A only (B), placebo injection plus casting (C), or BTX‐A plus casting (B+C). The dosage for the BTX‐A injections was 4U/kg per extremity. Assessments were performed at baseline, 3,6,7.5, and 12 months with a total of three treatments administered after the evaluations at baseline, 3, and 6 months. Primary outcome measures were ankle kinematics, velocity, and stride length. Secondary outcome measures were ankle spasticity, strength, range of motion, and ankle kinetics. Group B made no significant change in any variable at any time. Groups C and B+C demonstrated significant improvements in ankle kinematics, spasticity, passive range of motion, and dorsiflexor strength. Results of this 1‐year study indicate that BTX‐A alone provided no improvement in the parameters measured in this study, while casting and BTX‐A/casting were effective in the short‐ and long‐term management of dynamic equinus in children with spastic CP.