bluuebunny/crossref_metadata_2025 huggingface dataset:
Caregivers' perceptions following gastrostomy in severely disabled children with feeding problems
Authors: Dickson Alan , Clarke Mike , Tawfik Rihab , Thomas, Adrian G.
Published: July 2010

Feeding difficulties are common in neurologically impaired children, often leading to great distress and frustration in the child and family. A gastrostomy may be advocated if oral intake is inadequate causing poor weight gain or when there is significant aspiration during feeding, or if feeding is very distressing. To find out if caregivers were happy with the outcome of gastrostomy (with fundoplication, when indicated), a 35‐item questionnaire was developed and sent to 38 of them. Twenty‐nine replies were received and appeared to be representative of the whole group. Coughing, choking, and vomiting improved in most cases. Weight gain improved in all in whom it had been a problem. In the majority, it became easier to give the children their medications although control of epilepsy was unchanged overall. Time spent feeding the child was reduced and many caregivers had more time to devote to other children and themselves. Only one parent regretted the operation. In children with severe disability and feeding problems, a gastrostomy (with fundoplication if there is significant reflux) can reduce symptoms of vomiting, coughing, and choking, help growth and improve quality of life in the child, when patients are properly selected.
Neurobrucellosis in childhood: six new cases and a review of the literature
Authors: Omar Fatma Zahraa , Zuberi Sameer , Minns Robert A.
Published: July 2010

Neurobrucellosis accounts for <1% of cases of brucellosis in children. Six new cases of neurobrucellosis are presented and data from 39 previously published cases are analysed. The incidence is equal in males and females, and the source of infection is likely to be unpasteurised milk. Clinical presentation varies from severe meningoencephalitis or peripheral neuropathy/radiculopathy to behavioural disturbance. Diagnostic certainty requires isolation of the organism from the CSF, but as this is rarely possible serological diagnosis can be performed with the Coombs test on the CSF. Treatment requires combination antibiotic therapy and should continue for at least 8 weeks.
Agenesis of the corpus cállosum in Turner syndrome with ring X
Authors: Abd Samaa El , Wilson Liz , Howlin Patricia , Patton Michael A. , Wintgens Alison M. , Wilson Richard
Published: July 2010

An 8‐year‐old girl with Turner syndrome and 45,X/48,X,r (X) mosaicism was found to have agenesis of the corpus callosum and various other characteristics including ‘kabuki makeup’ facial features and mild learning disability. Only two other cases of Turner syndrome associated with agenesis of the corpus callosum have been reported, both in patients with a 45,X karyotype. In both of those patients the constellation of signs differed from those of the present patient in a number of ways. It remains to be confirmed whether there is a higher incidence of CNS malformation in girls who have Turner syndrome with a ring X than has been reported for girls with Turner syndrome in general.
Visual‐perceptual and phonological factors in the acquisition of literacy among children with congenital developmental coordination disorder
Authors: Fletcher‐Flinn Claire , Elmers Heather , Struynell Diane
Published: July 2010

Much research has shown that children with congenital developmental coordination disorder (CDCD) have marked impairments in the perception of visual‐spatial information, a deficit which has been assumed to be causally related to difficulties that many CDCD children experience when learning to read and spell. However, current research in reading disability suggests that poor reading is mainly related to difficulties with the processing of phonological information or with metaphonological ability, not to visual‐perceptual deficits. This study aimed to explore the relationship between reading achievement and the visual‐perceptual, phonological and general cognitive ability of CDCD children. Twenty‐eight children with a mean age of 8.3 years were tested on motor coordination, language, general ability, visual discrimination, visual‐motor integration, phoneme awareness, phoneme discrimination, reading and spelling. Results showed that phoneme awareness was the most strongly related to reading and spelling performance, and that visual discrimination showed no relationship to reading ability, although it was related to spelling performance, phonological awareness, and motor coordination. These results suggest that CDCD children who have difficulty with the acquisition of literacy may suffer from visual‐perceptual problems and metaphonological deficits, but these problems. are differentially related to reading and spelling.
Botulinum toxin A in the hemiplegia upper limb: a double‐blind trial
Authors: Corry I S. , Cosgroce A P. , Walsh EG , McClean D. , Graham HK
Published: July 2010

In a randomised, double‐blind study, the effects of intramuscular injection of botulinum toxin type A (BtA) into the upper limb were compared with those of normal saline solution in 14 patients with cerebral palsy; their mean age was 9 years. Range of movement and function were assessed before injection and at 2 and 12 weeks after injection. BtA injection significantly increased maximum active elbow and thumb extension and significantly reduced tone at wrist and elbow. The hand grasp‐and‐release score improved, representing a modest functional change, but fine motor function, assessed by the ability to pick up coins, did not improve and in some cases deteriorated temporarily. The most notable subjective change was the cosmetic benefit of reduced involuntary elbow flexion. The tone‐reducing effect of BtA was clinically detectable in comparison with the placebo and patients and parents perceived the change as beneficial. The median of changes in the treatment group was small but the range Was large, suggesting that BtA can be useful in selected patients.
Bone density and other possible predictors of fracture risk in children and adolescents with spastic quadriplegia
Authors: Henderson Richard C.
Published: July 2010

Forty‐three patients with spastic quadriplegia (mean age 7.9 years, range 3.3 to 17.2 years) underwent bone mineral density (BMD) measurement of the lumbar spine and were evaluated between 2.6 and 5.5 years (mean 3.8) later to determine whether this measurement had predicted risk of fracture over the subsequent period of observation. Other potential risk factors that were evaluated include body weight z score, serum vitamin D levels, previous fracture, and hip spica casting. The baseline measurements showed that BUD falls further below normal with increasing age and was more than one standard deviation below age‐matched normal mean in 38 of the 43 patients. Fracture rate did not differ between those with low and those with very low spinal BMD. Similarly, serum vitamin D levels and body weight z scores were not predictive of fracture. However, fracture rate was over fourfold greater following spica casting and more than threefold greater following an initial fracture. Fracture rates in the study group were similar to those reported for age‐ and sex‐matched normal children, though generally the location of the fractures and mechanisms of injury differed.
The influence of flexed‐knee gait on the energy cost of walking in children
Authors: Daffy CM , Hill A E. , Graham HK
Published: July 2010

There is ah understanding that walking with flexed knees contributes to the increased energy cost of walking found in children with neurological conditions. To determine the influence of flexed‐knee gait on energy cost of walking in a group of children without neurological abnormality, the gait patterns of 10 normal children were studied using a Vicon system and standard marker set. A telemetric system (Cosmed K2) was then used to measure the oxygen cost of walking of the same children. The tests were repeated restricting the subjects' knee extension bilaterally, using hinged braces, set to 0, 15, 30, and 45° of flexion. Although the braces themselves caused a significant increase in O2 cost (mL/kg/m) (P<0.05), due to a decrease in walking speed, no further significant increase in oxygen cost was demonstrated regardless of the degree of knee flexion imposed, despite a significant increase in measured hip flexion and ankle dorsiflexion at the 45° of knee flexion setting (P<0.05). We propose that moderate flexed‐knee gait does not of itself cause an increase in the energy cost of walking and that other factors present in the physically disabled child are likely to be implicated.
Eyemovement abnormalities in a case of Tourette syndrome
Authors: Narita A S. , Shairkat F S. , Lask B. , Tayior D S I. , Harris C M.
Published: July 2010

Tourette syndrome (TS) is a neuropsychiatric disorder that is characterised by the presence of multiple vocal, facial, and motor tics which change with time, and a number of other behavioural phenomena. Previous studies have not revealed any ocular‐motor abnormalities. We report the eye movement studies of a patient with TS, using electro‐oculography and simultaneous video recording. Intrusive saccades occurred during smooth pursuit and optokinetic nystagmus. Reflexive and voluntary saccades were dysmetric and there was a complete failure of antisaccades. These abnormalities are characteristic of disease of the frontal lobes and basal ganglia. We review the literature with respect to the eye movement abnormalities associated with TS.
Somatosensory functioning in children with attention deficit hyperactivity disorder
Authors: Parush Shula , Sohmer Haim , Steinberg Avraham , Kaitz Marsha
Published: July 2010

In older to test the hypothesis that attention deficit hyperactivity disorder (ADHD) is related to deficits in somatosensory processing, 49 ADHD male children and 49 matched controls were tested on a wide range of tactile tasks, and somatosensory evoked potentials (SEP) were also recorded. In addition, parents' and teachers' ratings on the children's typical responses to tactile stimuli were obtained. The results show that the ADHD children were less skilled on suprathreshold, but not on threshold tasks than were the controls. Further, a larger percentage of ADHD children were ‘tactile defensive’. Finally, the ADHD children showed Iarger‐than‐normal amplitudes of late, but not early components of the SEP. These data suggest that some aspects of somatosensory processing by ADHD children are deficient.
Therapeutic electrical stimulation folio wing selective posterior rhizotomy in children with spastic diplegia cerebral palsy: a randomized clinical trial
Authors: Steinbok Paul , Reiner Ann , Kestle John RW
Published: July 2010

A randomized controlled trial was carried out to determine the effectiveness of therapeutic electrical stimulation (TES) in improving the function of children with spastic cerebral palsy (CP), who had undergone selective posterior lumbosacral rhizotomy more than a year previously. Children were randomly assigned to groups to receive TES for 1 year, or to have no TES. The primary outcome was the change in the Gross Motor Function Measure (GMFM), a quantitative and validated measure for use in children with spastic CP. There was a statistically significant and clinically important improvement in outcome for the treated children, with the mean change in the GMFM score at one year being 5.5% compared with 1.9% in the untreated group (P=0.001). TES was simple to use, had no significant complications, and was well accepted by the children and their caregivers, as indicated by an average compliance of 93% for the application of TES on a nightly basis over the course of the study. It was concluded that TES may be beneficial in children with spastic CP who have undergone a selective posterior rhizotomy procedure more than 1 year previously.
Disability due to restrictions in childhood epilepsy
Authors: Carpay Hans A. , Vermeulen Jan , Stroink Hans , FBrouwer Oebo , Peters A C Boudewyn , van Donselaar Cees A.
Published: July 2010

Parents and doctors impose restrictions on children with epilepsy to avoid seizure‐related injuries. We intended to quantify disability due to such restrictions by using a newly developed parent‐completed 10‐item scale (The Hague Restrictions in Childhood Epilepsy Scale, HARCES). Parents reported disability on at least one item of the HARCES in 83% of 122 children with epilepsy and a remission from seizures for less than 1 year. Psychometric analysis of the scale's reliability demonstrated good internal consistency and retest stability. Its validity was supported by the association between HARCES scores and the physicians' advice imposing restrictions. We found no substantial association with such variables as seizure type, short‐term remission, or seizure activity. These findings suggest that in children with recurrent seizures, restrictions were probably not optimally adapted to seizure‐related risks. A repeat test after 1 year showed that a seizure remission of more than 1 year substantially reduced restrictions, which is probably associated with an improvement in quality of life.
Respite‐care needs ‐met and unmet: assessment of needs for children with disability
Authors: Treneman Madelon , Corkery Ann , Dowdney Linda , Hammond Josephine
Published: July 2010

The study aimed to ascertain the current use of respite‐care services by families with children with a learning and/or a physical disability in a South London, UK, health authority, to estimate the type and extent of the unmet need, and to set standards for the provision of such services. Over 1200 families were sent an 11‐page questionnaire. The results indicated that the child's level of dependency and the presence of behaviour and communication problems led to significantly higher levels of experienced stress among carers. This was also associated with a significantly greater use of respite care except by families of children with behavioural problems. The results showed that respite care was generally perceived as an inadequate service, though 38% of respondents had no knowledge of the existence of respite‐care services. Recommendations are made in relation to information provision, choice, and flexibility for carers and for quality standards in general.
Effects of intraventricular hemorrhage and hydrocephalus on the long‐term neurobehavioral development of preterm very‐low‐birthweight infants
Authors: Fletcher Jack M. , Landry Susan H. , Bohan Timothy P. , Davidson Kevin C. , Brookshire Bonnie L. , Lachar David , Kramer Larry A. , Francis David J.
Published: July 2010

I Measures of intelligence, neuropsychological functions, academic skills, and behavioral adjustment were obtained at school‐age from children born preterm with no hydrocephalus (N,=29), arrested hydrocephalus (N,=19), and shunted hydrocephalus (N,=17), and a term comparison group (N,=23). Most children also received concurrent neurological examinations and MRI brain scans. Results revealed significantly poorer neurobehavioral development in all four domains in preterm children with shunted hydrocephalus. Despite abnormal MRI findings in virtually all children with arrested hydrocephalus, significant differences between preterm children with arrested hydrocephalus and those with no hydrocephalus were largely in areas involving attentipnal and academic skills. Preterm children with no hydrocephalus tended to show poorer motor development relative to term children. Neurological abnormalities were restricted to children with spasticity in the arrested (N,=2) and shunted (N,=10) groups. These results highlight the importance of separating cases according to residual neurological and neuroimaging abnormalities in accounting for variations in the neurobehavioral development of preterm, low‐birth‐weight infants.
A male with fetal valproate syndrome and autism
Authors: Williams P Gail , Hersh Joseph H.
Published: July 2010

Fetal valproate syndrome (FVS) is characterized by minor craniofacial anomalies, major organ malformations, and developmental delay. We report on a patient who has a clinical phenotype compatible with both FVS and autism. The presence of an autistic disorder in a previously reported case of FVS and similar findings in our patient suggest that a relation between this known teratogen and autism may exist.
Does walking speed influence the time pattern of muscle activation in normal children?
Authors: Willems Patrick , Plaghki Léon , Detrembleur Christine
Published: July 2010

Dynamic electromyography (EMG) of the extrinsic muscles of the ankle is used more and more frequently to assist in the planning of tendon transfers in children with equinovarus deformities. Since these children walk at low speeds (1 to 4km/h), and since walking speed modifies the EMG‐time pattern, the clinical investigator must be able to differentiate EMG modifications due to pathology versus those due to slow walking speed. The aim of this work was to study the effect of walking speed on the EMG‐time pattern of the extrinsic ankle muscles in healthy children between 4 and 11 years of age. This pattern was found to change significantly with speed of progression but is independent of growth over this age range. A nomograph of EMG timing, taking into account walking speed, is proposed for clinical gait analysis.
Serum creatinine is a poor marker of glomerular filtration rate in patients with spina bifida
Authors: Quan Albert , Adams Richard , Ekmark Elaine , Baum Michel
Published: July 2010

Serum creatinine is used to estimate the glomerular filtration rate (GFR). The serum creatinine, however, may not accurately reflect the GFR in spina bifida patients, who often have decreased overall muscle mass resulting from spinal cord abnormalities. The relationship between the serum creatinine and GFR (obtained by [125I]iothalamate clearance) was examined in a population of spina bifida patients. Age‐matched patients without spina bifida were used as controls. Results demonstrate that, for serum creatinines above 0.5 mg/dL, serum creatinine is a very poor predictor of GFR. Two patients with serum creatinines of 2.2 mg/dL are near end‐stage renal disease with GFRs of 12.5 and 13 mL/minute per 1.73mz and two patients were initiated on dialysis at the conclusion of the study. It is concluded that obtaining a GFR from a clearance study and not serum creatinine is the only reliable method to assess renal function in spina bifida patients once the serum creatinine is greater than 0.5 mg/dL.
The contribution of risk factors to the effect of early otitis media with effusion on later language, reading, and spelling
Authors: Peters Sylvia AF , Grievink Eefje H , van Bon Wim HJ , van den Bercken John HL , Schilder AnneGM
Published: July 2010

A cohort of 946 children who were screened for otitis media with effusion (OME) from the ages of 2 to 4 were studied for language, reading, and spelling at 7 years of age. The effects of OME in combination with single risk factors and with increasing numbers of risk factors were investigated. An interaction with an additional risk factor was found only for gender and OME, with boys' spelling influenced negatively by a history of OME. OME in combination with preterm birth and low birthweight also appears to put children at risk for later langauage and educational problems. Although a negative linear relation between the number of risk factors and later functioning was found, it is suggested that OME, even when combined with a number of other risk factors, produces only minor effects on later language, reading, and spelling.
Equinus deformity in cerebral palsy: recurrence after tendo Achillis lengthening
Authors: Sala Debra A , Grant Alfred D , Kummer Frederick J
Published: July 2010

Twenty‐seven patients with cerebral palsy (CP) were recalled and studied in detail 2 to 9 years post tendo Achillis lengthening (TAL). The recurrence rate of eauinus deformity was 22.2%. Multiple clinical characteristics and follow‐up examination findings were analyzed to determine their relation to recurrence. The recurrence group had a significantly (P<0.05) smaller preoperative popliteal angle, a greater popliteal angle at follow‐up, and a greater change in popliteal angle from preoperative to follow‐up than the non‐recurrence group. This indicated that increasing hamstring contracture was the major factor influencing recurrence. Spasticity of tibialis posterior and leg‐length discrepancy may be related factors as well.
Challenges and opportunities for children with disabilities in Europe: The future role and development of the voluntary sector
Authors: Russell Philippa
Published: July 2010

The most important thing to remember is that ichen a disabled child is born, that child is a child first to hisor her Jamily. My son John is not a congenital abnormality he is not a burden (though he is sometimes a challenge);he is not my fault. I do not want professionals toocer‐burden me with programmes, interventions, promises they cannot keep.I want realism;sensitivity; recognition of our, family life styles and alxrce all else, a regard for Johnasa child. It is his well‐be. Ivgnothis disablity. Which affects all oure rery day lives We handle,) need professionals but we also nee a “ordinary lives‘. It is hard to adapt to a lift’ which has no pricacy, where, we know we. will be carers for life, and when we fear that our child may always facelmc expectations and stigma because, he. is disabled.
Use of proprioception in normal and clumsy children
Authors: Smyth M M. , Mason U C.
Published: July 2010

This study investigates the relation between performance on simple tasks dependent on proprioception, And performance of complex perceptual‐motor skills in clumsy children and age‐matched control children. One hundred and forty‐six right‐handed children aged between 5 and 8 years were tested on non‐visual aiming, non‐visual posture matching, the Kinaesthetic Sensitivity Test (KST), and the Movement Assessment Battery for Children (ABC). Half of the children had scores below the 15th centile on the Movement ABC and were classed into the developmental coordination disorder (clumsiness) group. Scores on the proprioceptive tasks were used to predict performance on complex tasks of the subscales of the Movement ABC (manual dexterity, ball skills, and balance). Specific relations were found between the proprioceptive tasks and the subscales of the Movement ABC, but the KST did not predict differences in motor skills, and no relation was found between tasks carried out without vision. Simple non‐visual movement tasks do predict performance in more complex skilled tasks but this is affected by many task features rather than simply the reliance on proprioception for information about movement.
Effect of an equine‐movement therapy program on gait, energy expenditure, and motor function in children with spastic cerebral palsy: a pilot study
Authors: McGibbon Nancy H. , Andrade Carla‐Krystin , Widener Gail , Cintas Holly Lea
Published: July 2010

The purpose of this study was to evaluate the effects of an 8‐week program of hippotherapy on energy expenditure during walking; on the gait dimensions of stride length, velocity, and cadence; and on performance on the Gross Motor Function Measure (GMFM) in five children with spastic cerebral palsy (CP). A repeated‐measures within‐subjects design was used consisting of two baseline measurements taken 8 weeks apart, followed by an 8‐week intervention period, then a posttest. After hippotherapy, all five children showed a significant decrease (Xr2;=7.6, P<0.05) in energy expenditure during walking and a significant increase (Xr2=7.6, P<0.05) in scores on Dimension E (Walking, Running, and Jumping) of the GMFM. A trend toward increased stride length and decreased cadence was observed. This study suggests that hippotherapy may improve energy expenditure during walking and gross motor function in children with CP.
Precocious puberty in children with myelomeningocele: treatment with gonadotropin‐releasing hormone analogues
Authors: Trollmann R. , Strehl E. , Dörr H. G.
Published: July 2010

In patients with myelomeningocele (MMC), growth is influenced by a large number of growth‐retarding factors due to the neurological defect. Moreover, endocrine disorders have been found to contribute to short stature in MMC patients. Central precocious puberty (CPP) is a common problem. Due to growth disturbances and difficulties in obtaining standardized measurements, MMC patients have been excluded from gonadotropin‐releasing hormone (GnRH) analogue studies in the past. We report on eight patients (six female, two male) with MMC, hydrocephalus, and CPP who were treated with GnRH analogues: triptorelin intramuscularly (N=5) or leuprorelin subcutaneously (N=3). Auxological data and hormone levels were assessed before treatment and every 6 months during treatment. The median chronological ages (CA) at the start of treatment were 8.6 years (females) and 8.4 years (males). Bone age (BA) was accelerated in all cases prior to treatment and two girls were already menstruating. Elevated gonadotropin serum levels and sex steroid levels decreased during treatment, although no complete suppression to prepubertal levels was reached. Progression of pubertal development and menses stopped in all patients. The tempo of BA acceleration (ΔBA:ΔCA) decreased, but no significant improvement in height standard deviation score BA and predicted adult height resulted. No side effects during treatment were observed. CPP in MMC patients has to be considered as early as possible to enable an early diagnosis and corresponding treatment. Further prospective studies on the effects of GnRH analogues in MMC patients are necessary.
Molybdenum cofactor deficiency – phenotypic variability in a family with a late‐onset variant
Authors: Hughes Elaine P. , Fairbanks Lynnette , Simmonds H Anne , Robinson Richard O.
Published: July 2010

In a family with molybdenum cofactor deficiency, the onset in the index case was delayed until 1 year of age, when the patient presented with an episode of lethargy and inconsolable crying culminating in a seizure. By 17 months she showed mild motor delay, regression in language skills, and feeding difficulties. Progressive global deterioration followed, associated with sustained irritability, dystonic posturing, and further seizures, before her condition subsequently plateaued. Low plasma uric acid, raised urinary xanthine and hypoxanthine, and positive urinary sulphite were found, which, coupled with assay of sulphite oxidase activity in cultured fibroblasts, confirmed the diagnosis. A sibling had isolated lens dislocation and an identical biochemical profile. MRI in both children was strikingly abnormal. Molybdenum cofactor deficiency may present as a late‐onset variant with considerable phenotypic variability.
Is the girl with Rett syndrome normal at birth?
Authors: MPH Helen Leonard MBCHB , FAFHPHM Carol Bower MB BS MSc PhD
Published: July 2010

The diagnosis of Rett syndrome is currently determined by a series of criteria, the first three of which are concerned with the initial period of normality. Using the Australian Rett Syndrome Database, information about this early period was obtained by questionnaires to paediatricians and families. For girls born between 37 and 42 weeks' gestation, 70.7% of girls with Rett syndrome had birthweights <3500g compared with 62.2% of singleton births of the same gestational age in Western Australia between 1980 and 1992. The mean head circumference at birth for infants with Rett syndrome was lower than the mean head circumference at birth for the reference populations after accounting for gestational age. Forty‐one percent of parents reported that their daughter had some perinatal difficulty, while in 22.4% of cases clinicians reported some perinatal abnormality. In 46.5% of girls, parents reported that their daughter'sdevelopment or behaviour had been unusual in the first 6 months. Our results provide further evidence that the girl with Rett syndrome may not be normal at birth.
In utero fetal cerebral intraparenchymal ischemia diagnosed by nuclear magnetic resonance
Authors: Sibony O. , Stempfle N. , Luton D. , Oury J F , Blot P H
Published: July 2010

Fetal brain damage can have many causes, the most common being possibly asphyxia which is often associated with intrauterine growth retardation. Early recognition of cerebral lesions is important in guiding obstetrical management. A case of antenatal cerebral intraparenchymal ischemia diagnosed by nuclear magnetic resonance (NMR) earlier than cerebral ultrasound examination is reported. This case report indicates that NMR may be a useful tool for the early detection of cerebral impairment in severe fetal growth retardation.
Psychosis as a presentation of physical disease in adolescence: a case of Niemann–Pick disease, type C
Authors: Campo John V , Stowe Robert , Slomka Greg , Byler Debra , Gracious Barbara
Published: July 2010

This study reports the case of a 16‐year‐old male who presented with a history of prominent psychotic symptoms and paranoid delusions which overshadowed subtle signs and symptoms of cognitive and motor dysfunction. Intensive neurobehavioral and biochemical investigations eventually led to the diagnosis of Niemann–Pick disease, type C (NPC), an autosomal recessively inherited storage disease that is associated with the accumulation of cholesterol in lysosomes and difficulties in the processing of exogenously derived cholesterol. Clues to the presence of a neurological disorder included: a history of insidiously declining academic and athletic performance which antedated the onset of psychosis; abnormalities on mental status examination, including psychomotor slowing, memory difficulties, and impairment of higher attentional functions; physical findings of subtle downgaze impairment, mild symmetrical hyperreflexia, and lower‐extremity hypertonia with flexor plantar responses, marked impairment of upper‐extremity rapid alternating movements, action tremor, and bilateral posturing with stress gait maneuvers. This case demonstrates the importance of careful and persistent neurodiagnostic evaluation in adolescents with psychotic presentations, particularly when cognitive and motor deterioration is suspected, and even when head CT and MRI scans are judged to be normal.
Practice of a precision isometric grip‐force task by children with spastic cerebral palsy
Authors: Valvano Joanne , Newell Karl M
Published: July 2010

The ability to produce and sustain a criterion level of precision isometric grip force was studied in a group of 7‐ to 12‐year‐old children with cerebral palsy (CP) and in a control group. On‐line visual feedback of the forces produced relative to a stationary target was provided for each 5‐second trial. Subjects practised 48 trials on each of 3 consecutive days. Measures of accuracy and variability revealed significantly reduced accuracy and increased variability in isometric force production for the group with CP. Both groups demonstrated improvement with practice, with the significantly greater change in the control subjects. There was substantial variability in performance among subjects with CP. Gains associated with practice were sustained over a 5‐day retention interval for both groups. The requirement to control proximal segments of the upper extremity was not associated with increased error in grip‐force production of the group with CP.
A patient with autistic disorder and a 20/22 chromosomal translocation
Authors: Carratalá Francisco , Galán Francisco , Moya Manuel , Estivill Xavier , Pritchard Melanie A , Llevadot Roser , Nadal Marga , Gratacòs Monica
Published: July 2010

The case history of a 3‐year‐old boy without speech and who met 10 criteria of an autistic condition (DSM‐IV) (American Psychiatric Association 1994) is reported. Psychometric evaluation, excluding the verbal scale, resulted in an IQ score of 56. The cytogenetic study showed a 20/22 translocation and an interstitial deletion within the region 22q11: 45, XY, ‐22, +der(20), t(20;22) (q13.3;q11.2), which was confirmed by fluorescence in situ hybridisation (FISH). Although deletions at 22q.11 are responsible for the DiGeorge syndrome; clinical, metabolic, and neurological image studies of the patient were inconsistent with this syndrome. In the clinical examination the patient presented with a mildly dysmorphic facies, pectus excavatum, and a short thumb. A 99mTc HMPAO brain perfusion SPECT showed a hypoperfusion of the left temporoparietal cortex. As there have been no previous reports of autistic patients with abnormalities involving both chromosomes 20 and 22, these findings merit some discussion either as a possible cause of autism or as accompanying factors.
Development of visual function in hemihydranencephaly
Authors: Porro Giorgio , Wittebol‐Post Dienke , de Graaf Miky , van Nieuwenhuizen O. , Schenk‐Rootlieb A J F , Treffers Willem Frits
Published: July 2010

This study reports on the findings of longitudinal follow‐up of visual function in a 12‐year‐old girl affected by congenital right hemihydranencephaly. This extremely rare unilateral brain malformation allowed the authors to gather new information on neuronal plasticity and functional compensations of the visual system across a period of 10 years. An extension of the preserved right visual hemifields above the middle line and strategical eye or head positions developed to increase visual functions are discussed. In addition, ophthalmological and orthoptical findings, as well as the development of monocular grating and linear acuity, are described.
A case of Ohtahara syndrome with cytochrome oxidase deficiency
Authors: Williams AN , Gray RG , MPhil K Poulton , MRCPath P Ramani , Whitehouse W P A
Published: July 2010

Ohtahara syndrome is a rare cause of epileptic seizures during the neonatal period. This is believed to be the first report of this syndrome with a specific metabolic defect. Defects in respiratory chain function may be more common than previously assumed in patients with this epilepsy syndrome.
Growth of preterm infants with cystic periventricular leukomalacia
Authors: Rogers Brian , Andrus Jason , Msall Michael E , Arvedson Joan , Sim Jimmy , Rossi Thomas , Martin David , Hudak Mark
Published: July 2010

Etiology of the high rates of growth failure in children with cerebral palsy (CP) remains unclear. The purpose of this study was to evaluate the relation between growth failure in preterm infants with cystic periventricular leukomalacia (CPVL) and neonatal health complications. The population consisted of all preterm infants. (51) with a gestational age of ≤33 weeks who were admitted to the Children's Hospital of Buffalo from 1988 to 1993 and who had CPVL. Out of the 41 survivors with CPVL who were followed, 39 developed CP and 18 developed growth failure during infancy. At the time of greatest growth failure, the majority (72%) of infants had signs of undernutrition as denned by the Waterlow (1972) classification. Oral feeding impairment was the sole risk factor for the occurrence of growth failure. Undernutrition appears to be important in the occurrence of growth failure in preterm infants with CPVL and CP.
Sleep EEG and developmental dysphasia
Authors: Picard A. , Heraut F Cheliout , Bouskraoui M. , Lemoine M. , Lacert P. , Delattre J.
Published: July 2010

To determine the relation between developmental dysphasia and EEG anomalies during sleep, we compared 52 subjects with dysphasia with a control group of 20 children by using the ambulatory EEG method. Whereas 50% of the children with dysphasia experienced paroxysmal activity (PA), only two of the control group did. It is likely that paroxysmal abnormalities and language impairment are related to architectural dysplasia and neuron‐migration disturbances. PA is frequent in subjects with receptive developmental dysphasia and may be the cause of language deterioration. When the occurrence of paroxysmal abnormalities during sleep is higher than 8% of total sleep time, we suggest the use of antiepileptic drugs.
Musculoskeletal modelling in determining the effect of botulinum toxin on the hamstrings of patients with crouch gait
Authors: Thompson NS , Baker RJ , Cosgrove AP , Corry IS , Graham HK
Published: July 2010

This study aimed to determine the effect of hamstring botulinum toxin A (Btx‐A) injection in 10 children with crouch gait in terms of changes in muscle length and lower‐limb kinematics. Before Btx‐A injection limb kinematics were recorded. Maximum hamstring lengths and excursions were calculated by computer modelling of the lower limb. Data were compared with the averaged hamstring lengths of 10 control children. Hamstrings were denned as short if their length was shorter than the average maximum length minus one standard deviation. Gait analysis was repeated 2 weeks after isolated hamstring Btx‐A injection. Pre‐ and postinjection kinematic data and muscle lengths were then compared. Four of 18 injected limbs in three subjects had short medial hamstring before injection, none of the subjects had short lateral hamstrings. Muscle excursion was significantly reduced in the short and adequate maximum muscle length groups. A significant increase in the semimembranosus and semitendinosus length in all of the injected limbs was noted. Only in the short muscle group was a significant increase in muscle excursion observed. Knee extension improved by 13° in the adequate muscle length group and by 15.6° in the short muscle length group. Pelvic tilt and hip flexion increased in both groups non‐significantly. Average walking speed postinjection increased from 0.60 ms‐1 to 0.71 ms‐1. Short hamstrings are over‐diagnosed in crouch gait. Hamstring Btx‐A injection in patients with crouch gait produces significant, repeatable muscle lengthening and improved ambulatory function.
Infant nutrition and cognitive development in the first offspring of a national UK birth cohort
Authors: Wadsworth M , A Rahimi‐Foroushani MA  , R Hardy PhD, MRC  , D Kuh MRC, PhD  , Richards M , BSc A Paul
Published: July 2010

Several studies show a modest beneficial effect of breastfeeding on cognitive development after controlling for sociodemographic confounders. It is still unclear, however, to what extent this is due to the nutritional advantage of breast milk or to environmental influences associated with breastfeeding. We compared verbal ability scores at age 8 years in 511 first‐born offspring of the National Survey of Health and Development who were ever or never breastfed, adjusting for paternal occupation, maternal education, maternal cognitive performance, attendance at nursery school, and maternal age at birth of the participant. A positive association between breastfeeding and cognitive performance was found but this was no longer the case after adjusting for either paternal occupation, maternal education, or maternal cognitive performance in turn. In contrast, an association between breastfeeding and cognitive function was not found for mothers of these offspring. Breastfeeding was increasingly associated with a non‐manual social class across the generations although it remains unclear how this might mediate the effect of breastfeeding on cognitive performance.
Reflex excitability and isometric force production in cerebral palsy: the effect of serial casting
Authors: Brouwer Brenda , Wheeldon Robyn K , Stradiotto‐Parker Nadia , Jodi Allum BSc(PT)
Published: July 2010

During passive dorsiflexion, the angle of stretch‐reflex onset was earlier in the dorsiflexion range for children with spastic cerebral palsy (CP) (N=10) compared with controls (P<0.001) at comparable velocities of stretch. Isometric plantar‐flexor force was lower in children with CP (P<0.0001) and a leftward shift in the length‐tension curve reflected that peakforces were produced in greater plantar flexion in children with CP than in controls (P<0.0001). Seven children with CP underwent 3 weeks of serial casting resulting in increased dorsiflexion At postcasting and at 6 weeks follow‐up (P<0.002). There was no associated loss in plantar‐flexor strength (P>0.32), but increased reflex threshold (P<0.03) and a decline in restraint to imposed stretch (P<0.002) were evident. A rightward shift in the length‐tension curve illustrated that peak tension was generated in dorsiflexion rather than plantar flexion following casting (P<0.001). The gains were still evident at follow‐up although generally to a lesser extent.
Effects of a movement and swimming program on vital capacity and water orientation skills of children with cerebral palsy
Authors: Hutzler Yeshayahu , Chacham Anat , Bergman Uri , Szeinberg Amir
Published: July 2010

Swimming and aquatic exercise are known for their effects on respiration in normal and asthmatic people. The purpose of the present study was to evaluate the effect of a 6‐month movement and swimming program on the respiratory function and water orientation skills of children with cerebral palsy (CP). Forty‐six kindergarten children aged 5 to 7 years were assigned either to a treatment or control group. The intervention program consisted of swimming sessions twice weekly and sessions of group physical activity in a gym once weekly, each session lasting 30 minutes, for a period of 6 months. Children in the control group were treated (30 minutes, 4 days per week) with Bobath physical therapy. The children in the treatment and control groups had comparable disability types, age, and anthropometric measurements. A 2 × 2 (group × test period) repeated measures ANOVA design confirmed a significant effect of interaction of time with group. The results also confirmed that children with CP have reduced lung function compared with normative data for children in the same age category. The treatment program improved baseline vital capacity results by 65%, while children in the control group improved by only 23%. The movement and swimming exercise program had a better effect than a physical therapy routine implemented in a previous study, consisting of respiratory exercise alone.
Selective dorsal rhizotomy: efficacy and safety in an investigator‐masked randomized clinical trial
Authors: McLaughlin John F , Bjornson Kristie F , Astley Susan J , Graubert Catherine , Hays Ross M , Roberts Theodore S , Price Robert , Temkin Nancy
Published: July 2010

The objective of this single‐center investigator‐masked randomized clinical trial was to investigate the efficacy and safety of selective dorsal rhizotomy (SDR) in children with spastic diplegia. Forty‐three children with spastic diplegia were randomly assigned on an intention‐to‐treat basis to receive SDR plus physical therapy (PT), or PT alone. Thirty‐eight children completed follow‐up through 24 months. Twenty‐one children received SDR (SDR+PT group) and 17 received PT (PT Only group). SDR was guided with electrophysiological monitoring and performed by one experienced neurosurgeon. All subjects received equivalent PT. Spasticity was quantified with an electromechanical torque measurement device (spasticity measurement system [SMS]). The Gross Motor Function Measure (GMFM) was used to document changes in functional mobility. Primary outcome measures were collected at baseline, 6, 12, and 24 months by evaluators masked to treatment.

At 24 months, the SDR+PT group exceeded the PT Only group in mean reduction of spasticity by SMS measurement (‐8.2 versus +5.1 newton meters/radian, P=0.02). The SDR+PT group and the PT Only group demonstrated similar improvements in independent mobility on the GMFM (7.0 versus 7.2 total percent score, P=0.94). Outcomes on secondary variables were consistent with primary outcomes. There were no serious adverse events. We conclude that SDR is safe and reduces spasticity‐in children with spastic diplegia. SDR plus PT and equivalent PT without SDR result in equal improvements in independent mobility at 24 months. SDR may not be an efficacious treatment for children with mild spastic diplegia.
Mild developmental delay due to ring chromosome 19 mosaicism
Authors: Vaz I , Larkins S A , Norman A , Green S H
Published: July 2010

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 which was the likely cause of her clinical problems. Her parents’ chromosomes were normal. A careful examination for dysmorphic features should be done in all children with developmental delay. However, these may not be readily apparent in babies and very young children. Chromosomal analysis to identify a genetic cause and to offer genetic counselling should be considered in all such children unless the clinician is absolutely certain that there are no dysmorphic features.
Measuring developmental and functional status in children with disabilities
Authors: Ottenbacher Kenneth J , Msall Michael E , Lyon Nancy , Duffy Linda C , Granger Carl V , Braun Susan
Published: July 2010

This study compared performance on the Functional Independence Measure for Children (WeeFIM), the Battelle Developmental Inventory Screening Test (BDIST), and the Vineland Adaptive Behavior Scales (VABS) in children with developmental disabilities. The three instruments were administered to 205 children with identified disabilities. All 205 children were tested using the WeeFIM instrument. The BDIST was administered to 101 children and the VABS to the remaining 104 children. Administration was counterbalanced and randomized across all three instruments. A proportional sampling plan was used to select the 205 children, who ranged in age from 11 to 87 months. A variety of medical diagnoses and levels of severity of motor, cognitive, and communication impairments were systematically included in the sample. Correlations (r) among subscales for all three instruments ranged from 0.42 to 0.92. Correlations for total scores ranged from 0.72 to 0.94. Analyses of potential moderator variables found no significant relation between age and severity of disability (r=0.05) or between socioeconomic status (SES) and severity of disability (r=0.21). Correlations with age were strongest for those subscale scores involving gross and fine motor skills. Correlations with SES and subscale scores ranged from 0.03 to 0.18. The three instruments provide important information regarding childhood performance in motor, self‐care, communicative, cognitive, and social skills. The WeeFIM instrument requires less administration time and provides information directly relevant to evaluating functional outcomes for children with disabilities and their families.
Aetiological findings and associated factors in children with severe mental retardation
Authors: Cans C , Wilhelm L , Baille M F , du Mazaubrun C , Grandjean H , Rumeau‐Rouquette C
Published: July 2010

The purpose of this study, through a retrospective epidemiological survey carried out over three geographical areas in France, was to characterize the aetiological factors involved in severe mental retardation (SMR) within a geographically defined population of children with disabilities aged between 7 and 16 years. The inclusion criteria for SMR (IQ<50) were met by 1150 children born between 1976 and 1985. Of these children, aetiology was known in 25%, suspected (or unclear) in 26%, and unknown in 49%. These rates of known and suspected aetiology varied between the groups of children with CP and those without CP. An analysis of factors associated with SMR was undertaken among the 144 subjects with SMR, of suspected or unknown aetiology, who had been referred to a neonatal care unit with or without intensive care (NCU) during their neonatal period. These subjects with SMR were compared with 864 children without SMR (control children) who were also referred to an NCU during their neonatal period. The main specific associated factors were a prolonged intubation of more than 24 hours, a very low birthweight (<1500 g) for children with an associated clinical feature of CP, and the presence of isolated neonatal fits and a time of transfer to the NCU of more than 4 hours after birth for children without an associated clinical feature of CP. Although common associated factors were encountered in the children with SMR with CP and the children with SMR without CP, the results of this study suggest differences in the underlying pathogenic factors.