bluuebunny/crossref_metadata_2025 huggingface dataset:
Neurodevelopment in offspring‐of hairdressers
Authors: Kersemaekers Wendy M , Roeleveld Nel , PhD Gerhard AZielhuis , Gabreëls Fons JM
Published: July 2010

The hypothesis that intrauterine exposure to hairdressers' chemicals adversely affects neurodevelopment of the offspring was investigated. Neurodevelopmental characteristics were analysed using a historical cohort study of reproductive disorders among hairdressers in The Netherlands. Because exposure in hair salons to agents toxic to reproductive processes might have changed pver time, two specific study periods were examined: from 1986 to 1988 and from 1991 to 1993. Nine thousand hairdressers and 9000 clothing sales clerks (referent group) who Were in the reproductive age in the denned study periods were selected by the trade association for service jobs. Frequency matching assured comparability with regard to age. All women were invited by mail to complete a short self‐administered Questionnaire on their reproductive history, including questions on the ages of their child at the times of the first words, first sentences, and first steps, and the occurrence of seizures during fever. The results showed that in 1986 to 1988 more children of hairdressers started speaking their first words after 15 months and their first sentences after 24 months. For 1991 to 1993 no increased risks of these outcomes were found. Seizures during fever had occurred more often among children of hairdressers in 1986 to 1988, and in 1991 to 1993, especially when women had been working until maternity leave. Although the quality of the data in this explorative study requires careful interpretation, the consistent results seem to indicate adverse effects on neurodevelopment among offspring of hairdressers in the earlier years (1986 to 1988). In the later years the effect seemed to be disappearing. However, these findings should be confirmed in more detailed studies.
MRI findings in patients with spastic cerebral palsy. I: correlation with gestational age at birth
Authors: Kumura Akihisa , Hayakawa Fumio , Kato Toru , Kuno Kuniyoshi , Watanabe Kazuyoshi
Published: July 2010

The authors studied MR images of the brain in 152 patients, aged 1 to 19 years (mean 3.3), who had spastic cerebral palsy (CP) and were attending two hospitals in Japan in 1993 and 1994. The relation was studied between the patients' gestational age at birth and their MRI findings, including the severity of periventricular leukomalacia (PVL) seen on MRI. In 119 of these patients, the CP was thought to be due to acquired, destructive brain injury. PVL was seen in 90 and posthemorrhagic porencephaly in 11. These preterm‐type brain injuries were observed often in patients who had been born preterm but were also seen in those born at term. Full‐term‐type border‐zone infarct, bilateral basal ganglia‐thalamic lesion, subcortical leukomalacia, and multicystic encephalomalacia were seen in 9,14,7, and 3 patients, respectively; these term‐type brain injuries were observed only in patients born at or near term. Of the patients with PVL, 90% had been born preterm. Severe PVL was common in the patients whose gestational ages at birth were between 25 and 32 weeks; all patients with PVL who had been born at term had only mild PVL. The authors concluded that MRI findings for patients with spastic CP are closely correlated with gestational age.
Neuroradiological assessment of visuoperceptual disturbance in children with spina bifida and hydrocephalus
Authors: Ito Jun‐ichi , Saijo Harumi , Araki Akiko , Tanaka Hajime , Tasaki Takumi , Cho Kazuhiko , Miyamoto Akie
Published: July 2010

The intellectual status of twelve children with spina bifida and hydrocephalus was evaluated. Seven children were considered to have verbal and non‐verbal skill discrepancies. It was considered that the Verbal IQ‐Performance IQ score by WISC‐R could be used as an index of their visuoperceptual disturbance. The disturbance was closely related to the morphological characteristics of the lateral ventricles on cerebral MRI. The ratio of the areas of the posterior horns to the anterior horns (P:A) showed a negative correlation with visuoperceptual ability. The visual pathway, visual cortex, and the ventral system were thus considered to be the sites of the affected lesions. From P.A changes with time, it was evident that adequate shunting would prevent the perceptual disturbance.
Taste and smell in familial dysautonomia
Authors: MD. Natan Gadoth , DMD Eliyahu Mass , MD. Carlos R Gordon , MD. Jacob E Steiner
Published: July 2010

Familial dysautonomia (FD) is one of the classic diseases characterized by taste and smell abnormalities. However, these typical features are based on data obtained from two separate crude studies published in 1964. In the present study psychophysicatcoghitive and reflex‐like facial‐behavioral responses to taste and smell, in nine patients with FD and 15 healthy controls, were recorded. Five taste stimulants were presented to both study groups, while a selection of common household odors was used for FD patients only. The patients with FD showed a markedly higher incidence of recognition failures for salty, bitter, sweet, and water stimuli than the controls, but rate of recognition of sour stimuli was almost identical in the two groups. Estimates by the subjects on a hedonic scale of 0 to 10 and facial display in FD indicated a relatively normal sensitivity to sour stimuli and to a lesser extent to bitter stimuli. Water, sweet, and salty stimuli evoked non‐discriminatory responses. These findings indicate specific dysgeusia rather than general ageusia. Smell was found to be normal. In children with taste and smell impairment, a systematic evaluative approach may help in planning palatable diets for adequate and comfortable nutrition.
The predictive value of cranial ultrasound and of somatosensory evoked potentials after nerve stimulation for adverse neurological outcome in preterm infants
Authors: Pierrat V. , Eken P. , de Vries LS
Published: July 2010

Thirty‐nine preterm infants were studied to compare the predictive value of somatosensory evoked responses (SEPs) following median‐nerve and posterior tibial‐nerve stimulation with the predictive value of cranial ultrasound. With regard to the SEP, a normal median‐nerve response was by no means a guarantee of a normal outcome. A normal posterior tibial‐nerve response, however, almost guaranteed a normal outcome, but the test was very time consuming and the number of false positive responses was high (sensitivity. 95.6%, specificity 50%). The presence of parenchymal involvement, either due to a haemorrhage or cystic leukomalacia predicted cerebral palsy with a sensitivity of 95.6% and a specificity of 68.5%. The combination of an abnormal posterior tibial response and the presence of parenchymal brain lesions had the best predictive value with a sensitivity of 91.3% and a specificity of 81.2%. These results show that, although posterior tibial‐rferve responses have a better predictive value than median‐nerve responses, these values were lower than that of cranial ultrasound. The best prediction was obtained when a combination of posterior‐tibial responses and cranial ultrasound was used.
Rapid‐acting treatment for a common sleep problem
Authors: MRCPsyeh David Bramble
Published: July 2010

A behavioural modification package incorporating stimulus control, cueing, and rapid‐extinction techniques was applied to a group of 15 children with severe learning disability who had chronic sleep disorders. Improvements in their night‐settling and night‐waking patterns occurred quickly (within a few days) and, in 12 of them, were sustained at medium‐ and long‐term (18 months) follow‐up. Additional improvements in the children's daytime behaviour and their mothers' subjective stress indices were observed, though not explicitly addressed. These results compare favourably with those of other studies which have tested behavioural interventions in other cohorts of children with sleep disorders. Wider application of behavioural interventions with these extremely common and potentially handicapping sleep disorders is recommended.
Familial spinocerebellar‐ataxia and empty sella turcica
Authors: Ruvalcaba Rogelio HA
Published: July 2010

Pituitary anomaly associated with familial spinocerebellar ataxia (FSCA) is a rare occurrence. This is a report of a child with FSGA who had an empty sella turcica and growth hormone deficiency. Growth hormone therapy accelerated growth velocity and improved muscular strength. Endocrinopathy associated with FSCA is reviewed.
Respiration patterns during feeding in Rett syndrome
Authors: Morton R E. , Bonas R. , Minford J. , Tarrant SC , Ellis RE
Published: July 2010

Feeding problems are common in Rett syndrome in which there are characteristic oropharyngeal abnormalities. This study investigated the ways in which individuals regulated their respiration accordingly, and how this affected their overall feeding ability. Respiration during feeding was studied in 28 individuals, recording nasal airflow, chest and abdominal movements, and swallow sounds. Time to first swallow was defined as that between introduction of liquid/solid on a spoon and the first swallow. Six individuals also had videofluoroscopy with simultaneous respiration monitoring. Results indicated different respiratory patterns according to the time to first swallow and neurological status; the amount of time spent in apnoea was particularly important. Videofluoroscopy showed that apnoeas occurred most often when liquid was delayed in the pharynx, but this could be overcome in subjects with a lower level of disability. The carer's estimate of the time for feeding was significantly related to the time spent in apnoea with liquids.
Variable presentation of cerebrovascular disease in monovular twins
Authors: Ganesan V. , Isaacs E. , Kirkham F J.
Published: July 2010

We describe twin girls with bilateral cerebrovascular disease. In one child, a diagnosis of moyamoya disease was made after presentation in infancy with an acute hemiparesis; her asymptomatic sibling was found to have significant bilateral cerebrovascular disease after neuropsychological evaluation and assessment with transcranial Doppler ultrasound. Both subjects showed a discrepancy between verbal and performance IQ and deficits on a test of frontal‐lobe function suggesting that these domains should be targeted in cognitive assessment. Family members of subjects with moyamoya are at risk of cerebrovascular disease. Clinical symptoms do not reliably predict disease and those at risk should be offered screening with non‐invasive vascular imaging
Caregivers' expectations of services at Baragwanath Hospital, Soweto and their understanding of the child's disability
Authors: Venter Andre
Published: July 2010

Sixty‐one caregivers were interviewed before and after their first visit with the child in their care to specialist neurodevelopmental outpatient clinics at Baragwanath Hospital, Soweto. The interview focused on their understanding of the child's disability and their expectations of the service offered at the clinics. Before consultation the majority of caregivers had a fair understanding of the child's functional problems and the short‐term complications, but after the consultation levels of understanding decreased significantly. Caregivers left the consultation with a significantly improved understanding of the aetiology of the problem. Understanding of long‐term complications did not differ significantly before and after the consultation. These findings may reflect the consultative process, as professionals may be more comfortable discussing aetiology than long‐term complications. Caregivers in a state of shock may be unable to absorb all the information given, and translation during consultation may also be a confounding factor. Even though more than half the caregivers had no idea what services the clinics offered prior to the consultation, the majority (81%) indicated they were satisfied with the service after the consultation.
Neurodevelopmental outcome in babies with a low Apgar score from Zimbabwe
Authors: Wolf MJ , Wolf B. , Bijleveld C. , Beunen G. , Gasaer P.
Published: July 2010

The early identification of neurological dysfunction in the neonatal period, the predictive value of single items of the neonatal neurological examination (NNE) adapted from Prechtl and the developmental outcome at 1 year of age in infants with a low Apgar score in Zimbabwe were studied. One hundred and sixty‐five infants were examined with the NNE and 142 with the Bayley Scale of Infant Development (BSID) at 1 year of age. Twenty‐three infants had cerebral palsy, ten had a motor delay or developmental delay, and four were mentally retarded. The NNE proved to be a sensitive instrument for detecting neurodevelopmental abnormality. Logistic regression analysis was used to investigate the relationship between the BSID and nine selected predictors from the NNE. This resulted in a correct classification of 94%. However, the number of false negatives was high. By using only the variability of movements and fixation as predictors the number of false negatives was reduced to one.
Fibromuseular dysplasia of the internal carotid artery in a child with alpha‐1‐antitrypsin deficiency
Authors: Sölder Brigitte , Streif Werner , Ellemunter Helmut , Mayr Udo , Jaschke Werner
Published: July 2010

Fibromuseular dysplasia (FMD) is a non‐inflammatory segmental arteriopathy of unknown origin. Most often the renal arteries are affected, however, also mesenteric, lumbar, vertebral, or carotid arteries may be Involved. FMD has frequently been reported as a cause of stroke in adults, but very rarely in children. We report the case of an 11‐year‐old boy who presented with an ischaemic infarction in the anterior part of the territory of the left middle cerebral artery. Angiography demonstrated a'string of beads'lesion suggestive of FMD causing occlusion at the origin of the middle artery. Laboratory analyses revealed the protease inhibitor (Pi) phenotype SZ (PiSZ) of alpha‐1‐antitrypsin deficiency as well as decreased antioxidants and signs of enhanced lipid peroxidation. Such an imbalance may be associated with diminished resistance to oxidation, possibly causing direct cellular and tissue injury. Whether alpha‐1‐antitrypsin deficiency and an impaired status of antioxidants, as seen in our patient, might play a role in the pathogenesis of FMD is presently unclear.
Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Authors: Rahman Shamima , Standing Susan , MA R Neil Dalton , Pike Michael G.
Published: July 2010

An unusual presentation of biotinidase deficiency is described. The disorder classically presents in infancy or early childhood with intractable seizures, hypotonia, ataxia, hearing loss, dermatitis, and alopecia. A 5‐year‐old girl developed acute visual loss associated with optic atrophy, and disturbance of gait with predominantly lower‐limb pyramidal signs. She had no seizures, and skin, hair, hearing, and intellect were normal. Biotinidase deficiency was confirmed biochemically and she responded well to biotin therapy. A diagnosis of biotinidase deficiency should be considered in children with unexplained bilateral optic neuropathy, particularly when there is accompanying gait disorder.
Hand function in low‐risk preterm infants: its relation to muscle power regulation
Authors: Plantinga Yvonne , Perdock Jeannette , de Groot Laila
Published: July 2010

Some reterm infants show a discrepancy in muscle power often recognisable as hyperextension of trunk and shoulders. Even if there is no evident pathology involved, the hyperextension influences later hand function. In this study we assessed a group of healthy infants (N=51) at the age of 39 weeks: 32 were born preterm (and corrected for gestational age) and 19 were born at term. Both quantitative and qualitative measures of hand function were obtained. It was found that the preterm infants scored significantly lower scores in both assessments for hand function. Moreover, a significant correlation was found between the quality of hand function at the age of 39 weeks and hyperextension of the trunk at 18 weeks. Hyperextension of the trunk at 18 weeks had a high predictive value for poor hand function at 39 weeks and thus should hold implications for clinical and therapeutic management.
Internal rotation gait: a compensatory mechanism to restore abduction capacity decreased by bone deformity?
Authors: Arnold Allison S , Komallu Abraham V , Delp Scott L
Published: July 2010

Children with excessive femoral anteversion frequently walk with abnormal internal rotation of the hip. The authors hypothesized that excessive anteversion decreases the abduction moment arm of the gluteus medius and that this moment arm is restored with internal rotation; hence internal rotation may be a compensatory meghanism to preserve abduction capacity. To test this hypothesis a three‐dimensional computer model of an adult lower limb was developed to determine how changes in femoral anteversion angle, neck‐shaft angle, and hip internal rotation angle affect the abduction moment arm of the gluteus medius. Analysis of the model revealed that anteversion and valgus deformities of the femur can decrease the abduction moment arm of the gluteus medius substantially. In particular, increasing the anteversion angle of the model by 30 to 40° caused a 40 to 50% decrease in the abduction moment arm of the gluteus medius ‐ enough to impair walking. Internal rotation of the hip by 30° restored the abduction moment arm of the gluteus medius to within 5% of the moment arm of the model in its normal, undeformed state. These results support the authors' hypothesis and are consistent with the theory that internal rotation may be a compensatory mechanism adopted by children with femoral deformities to achieve the abduction moment arm needed for walking.
A dyspraxic deficit in specific language impairment and developmental coordination disorder? Evidence from hand and arm movements
Authors: Hill Elisabeth L
Published: July 2010

The extent to which children with either specific language impairment (SLI) or developmental coordination disorder (DCD) could be considered dyspraxic was examined using three tasks involving either familiar, or unfamiliar actions. SLI is diagnosed in children who fail to develop language in the normal fashion for no apparent reason, while the DCD diagnosis is applied to a child who experiences problems with movement in the absence of other difficulties. Seventy‐two children aged between 5 and 13 years participated, falling into one of four groups: (1) children with specific language impairment (SLI), (2) children with developmental coordination disorder (DCD), (3) age‐matched control children, and (4) younger control children. The performance of the clinical groups resembled that of younger normally developing children. Children with SLI, DCD, and the younger controls showed significant difficulty on the task requiring the production of familiar, but not unfamiliar postures. The deficit observed in the SLI group is particularly striking because it was seen both in those with and those without recognized motor difficulties.
Evolution of a form of pure alexia without agraphia in a child sustaining occipital lobe infarction at 21/2 years
Authors: FRCP A E O'Hare MD , FRCOphth G N Dutton FRCS , MRCP D Green MB ChB , Coull Rosemary
Published: July 2010

The progress of cognitive visual dysfunction over an 8‐year period of a child who sustained bilateral occipital‐lobe infarctions at the age of 21/2 years is described. She survived with normal intelligence and went on to attend mainstream school. She manifested many features of cognitive visual impairment and, in particular, developed a form of pure alexia without agraphia. She achieved some letter‐by‐letter reading but no sight vocabulary development, including to her own name. She learned to write imaginatively employing phonetically true spelling but cannot read what she has written. Her progress and the difficulties encountered during the management of her condition are discussed in this first case report of the evolution of pure alexia without agraphia in childhood. The features of this syndrome in the developing child who has never developed the capacity to read are contrasted with that seen in affected adults.
Juvenile familial amyotrophic lateral sclerosis: four cases with long survival
Authors: Enrique Otero Siliceo MD  , Nicasio Arriada‐Mendicoa MD  , Jorge Balderrama MD
Published: July 2010

Four cases are reported of juvenile familial amyotrophic lateral sclerosis (JFALS) with exceptionally long survival (mean=27 years), and consequent development of dementia. Subjects' mean age at onset was 15–7 years. Their clinical features and electrophysiological findings support the diagnosis. One subject's MRI scan showed severe atrophy to the cortex and brain stem; wallerian degeneration in the pyramidal pathway, as reported in other studies, could not be found. JFALS is characterized by the involvement of other neuronal systems not present in the adult form and by long survival after disease onset.
Cognitive and educational outcome of very‐low‐birthweight children in early adolescence
Authors: Botting Nicola , Powls Andrew , Cooke Richard WI , Marlow Neil
Published: July 2010

A cohort of 138 very‐low‐birthweight (VLBW) 12‐year‐old children and matched control children were assessed on objective cognitive and educational measures. School performance was rated by teachers and by the children themselves. VLBW children were shown to have lower IQ scores, and poorer scores on all objective educational measures compared with control children. Controlling for IQ differences, mathematics and reading‐comprehension scores remained significantly lower for VLBW children. Teachers rated VLBW children lower in all curriculum areas. Significantly more VLBW children were found to be ‘failing’ in one or more subject and an increased proportion compared with the control children had received remedial education. The VLBW group showed no evidence of ‘catch up’ between 6 and 12 years of age. Multiple regression analyses were used to identify predictors of cognitive and educational outcome. The duration of mechanical ventilation in the neonatal period was inversely related to outcome. Full‐Scale IQ at 6 years, motor‐skills score at 6 years, and head circumference at 12 years all predicted outcome at 12 years, as did maternal education, family income and size. Individually, many VLBW children perform satisfactorily, but as a group VLBW children appear to be at a long‐term disadvantage to peers in the areas of cognitive and educational performance.
Epilepsy in shunt‐treated hydrocephalus
Authors: Klepper Jörg , Büsse Maria , Straßburg Hans Michael , Sörensen Nils
Published: July 2010

Although epilepsy is commonly associated with shunt‐treated hydrocephalus, its relation to the shunting procedure and the criteria identifying postoperative epilepsy remain controversial. Of 283 patients shunted at Würzburg University Hospital over a 24‐year period (1970 to 1994), 182 were followed up for a minimum of 1 year after shunt insertion and entered the study. The data were analyzed retrospectively in 1995 and 1996. Epilepsy was analyzed in relation to the etiology of hydrocephalus, functional status, time and site of shunt insertion, onset of seizures and seizure type, EEG changes, sex, shunt systems, and shunt revisions. Of the 182 patients studied, 37 (20%) developed epilepsy. The incidence of epilepsy varied according to the etiology of hydrocephalus: posthemorrhagic (5%), postinfectious (4%), connatal/miscellaneous/unknown (3%), myelomeningocele (2%), tumor/arachnoidal cyst/aqueduct stenosis (0%). Early shunting and poor functional status was associated with a higher risk for epilepsy. Epilepsy was not influenced by sex, shunt systems, or number of shunt revisions. Twenty‐two (12%) of 182 patients developed epilepsy (generalized N=13, focal N=9) after intracranial shunting. Focal EEG abnormalities (N=16) were located mainly at the anatomical site of the shunt (N=14), but only three patients (2%) presented with focal seizures contralateral and focal EEG abnormalities ipsilateral to the site of the shunt. The presence of epilepsy was determined by the etiology of hydrocephalus rather than by surgical intervention. The incidence of postoperative epilepsy (12%) was low. Onset of epilepsy, clinical presentation of seizures, and EEG changes did not appear to be valid criteria for identifying shunt‐related epilepsy. Thus, epilepsy as a complication of intracranial shunting might be overestimated in the literature.
Effect of selenium deficiency on cardiac function of individuals with severe disabilities under long‐term tube feeding
Authors: Saito Yoshiaki , Hashimoto Toshiaki , Sasaki Masayuki , Hanaoka Shigeru , Sugai Kenji
Published: July 2010

Eleven orally fed (group A) and 14 tube‐fed patients (group B) with severe disabilities and neurological disorders were compared to determine whether selenium (Se) deficiency is present in patients undergoing long‐term tube feeding, and to examine if Se supplementation has beneficial effects on their cardiac function. Assessments of Se intake, serum levels of Se, and cardiac‐function analysis including chest X‐ray, electrocardiography (ECG), and M‐mode echocardiography (UCG) were made. For group B, the effect of Se supplementation on cardiac function was assessed. Statistical significance was determined using Mann‐Whitney U test and Wilcoxon signed‐rank test. Deficiencies of Se were found in group B. ECG abnormalities were more common in group B than group A. UCG showed a lower ejection fraction, a lower mean rate of circumferential fiber shortening corrected by heart rate, and a lower diastolic velocity of the left‐ventricular posterior walls in group B than in group A. In group B, Se supplementation resulted in normalized serum Se levels, partial improvement of ECG abnormalities, and an increase of cardiac functions on UCG. It is thought that Se has beneficial effects on the myocardium of chronically tube‐fed patients. Se supplementation is recommended in this population.
Efficacy of programmes based on Conductive Education for young children with cerebral palsy
Authors: Reddihough Dinah S. , King Jane , Coleman Grahame , Catanese Tony
Published: July 2010

Conductive Education (CE)‐based programmes have been introduced to Australia over the past 10 years. The aim of this project was to compare these programmes with traditional neurodevelopmental programmes of rehabilitation for young children (12 to 36 months, mean age 22 months 3 weeks) with cerebral palsy. Thirty‐four children were matched by age, motor impairment, and cognitive ability and randomly allocated to CE‐based or equivalent‐intensity control programmes. Those unwilling to be randomized (32) were still studied but their outcomes were treated separately. Our results indicate that children involved in CE‐based programmes made similar progress to those involved in traditional programmes. Statistically significant changes were spread among the four groups of subjects. The foldings also endorsed the measures used and the expected maturational effect was detected. Although there were major difficulties in conducting this randomized trial, it was achieved by gathering parental and professional support, and adequate funding.
Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia
Authors: Harris C M. , Hodgkins P R. , Kriss A. , Chong W K. , Thompson D A. , Mezey L E. , Shawkat F S. , Taylor D S I. , Wilson J.
Published: July 2010

The underlying lesion in congenital saccade initiation failure (c‐SIF) (‘congenital ocular motor apraxia’, ‘Cogan's apraxia’) is uncertain. Often no abnormality can be found, yet in others a midline cerebellar abnormality has often been reported. We examined this cerebellar association in a brother and sister. In addition to standard ophthalmological and neurological examinations, both siblings underwent ocular motor testing and neuroradiological investigations including CT and MRI. Both siblings exhibited the typical signs of c‐SIF, including headthrusting, synkinetic blinking, niissed‐nystagmus quick phases, mild developmental delay, and speech difficulties. CT and MRI revealed cerebellar vermis hypoplasia in the brother, but appeared normal in the sister. No other neuroradiological abnormalities were detected. These cases highlight the wide variability in the association of vermis abnormalities with c‐SIF, despite the inheritance and similar clinical manifestations. They show that either: (1) the vermis is causal in saccade triggering, but that c‐SIF may result from very subtle damage that is beyond MRI resolution in some cases; or (2) that a vermis abnormality per se is not causative but only a marker of another subtle abnormality, either structural or possibly biochemical.
Voluntary hand movements and brain relations
Authors: Robinson Richard O.
Published: July 2010

Very little is known directly about the physiology of central movement control in the child. Anatomy is inferred from primate studies, largely those of the macaque monkey. Brain‐behaviour relations are derived from adult volunteers, most recently using positron emission tomography (PET) and functional MR1 (fMRI). What follows is not an authoritative account, but one that highlights some of the more recent information gleaned from studies in the held.
Neuroimaging in children with congenital disorders of the peripheral visual system
Authors: Waugh Mary‐Clare , Chong Wui Khean , Sonksen Patricia
Published: July 2010

The study investigates the neurological substrate in children with congenital disorders of the peripheral visual system (CDPVS), i.e. disorders of the anterior visual pathways and the globe. The design is retrospective; brain MRI and/or CT scans were traced and reviewed for 79 of 254 children with CDPVS on our database. The neuroradiological findings were considered in the context of degree of visual impairment (profound [PVI] and severe [SVI]), developmental outcome (setback and non‐setback), and mode of imaging (MRI and CT). Scans were abnormal in 40 of 79 (51%) children; 23 of 40 (58%) had more than one lesion; and in some children lesions not previously reported were found. The number of abnormalities per child was significantly higher in the PVI than the SVI group (P<0.05); the level of significance varied according to the method of scanning (MRI, P<0.001; CT, ns). Seven children were known to have had developmental setback; significantly more brain abnormalities per child were found in the group with setbacks than in the group without (P<0.001). Eighty‐six percent (24 of 28) of MRI compared with 38% (22 of 58) of CT scans were abnormal. MRI detected more lesions per child than CT (P<0.001). Thus, a significant amount of brain pathology occurs in children with CDPVS. The number of lesions varies directly with degree of visual impairment and both correlate with developmental outcome. As brain pathology will be only one of many factors influencing developmental progress in visually impaired children, prospective multifactorial studies of the CDPVS population, which include MRI studies of the neurological substrate, will be required to clarify the latter.
Relation between neurological status, refractive error, and visual acuity in children: a clinical study
Authors: Mackie R T , McCulloch D L , Saunders K J , Day R E , Phillips S. , Dutton G N
Published: July 2010

The aims of the present study were: (1) to determine the refractive status and visual acuity of a group of 75 neurologically impaired children (5 to 192 months of age); and (2) to investigate the relation between the visual and neurological status of these children. Refractive error was determined using non‐cycloplegic near retinoscopy and visual acuity was estimated using acuity cards (Keeler or Cardiff) and pattern‐onset visual evoked potentials (VEP). Subjects demonstrated a markedly different distribution of refractive error from that of a neurologically normal age‐matched population. Refractive error anomalies were more prevalent in children older than 5 years, suggesting abnormal refractive development. A wide range of visual acuity was found with both tests (acuity cards, 0.07 to 2.08 logMAR; VEP, 0.78 to 2.68 logMAR). Visual acuity and refractive status varied with level and type of physical impairment. Level of intellectual impairment exhibited a weak relation with visual status.
Mortality in people with learning disability: risks, causes, and death certification findings in London
Authors: FRCPsych Sheila Hollins MB BS , MRCPsych Marie Therese Attard , MRCPsych Nicola von Fraunhofer , FSS Sean McGuigan BSc , FSS Philip Sedgwick BSc
Published: July 2010

Two thousand people with learning disabilities registered as service users in two London districts were followed up for 8 years to ascertain, in those who died, age and cause of death and significant associations with early death. Respiratory disease was documented as the leading cause of death in 52% of the study population compared with only 15% of males and 17% of females in the whole population. People with learning disabilities have an increased risk of early death. Although the majority of deaths (83%) in the whole population occur in people aged 65 years and over, less than 50% of deaths in the study population were in this age group, and the risk of dying before the age of 50 was 58 times higher than in England and Wales generally. Early death was significantly associated with cerebral palsy, incontinence, problems with mobility, and residence in hospital. Death certificates were not found to be a reliable source of data about factors contributing to cause of death, and learning disabilities were rarely mentioned. The authors recommend an extension to the current format of the Medical Certificate of Death to include recording of chronic disabling conditions.
Who is a visually impaired child?
Authors: FRCP James E Jan MD , CRCP Roger D Freeman MD
Published: July 2010

Until the late 1700s, the eyes were thought to be the organs of sight while the visual function of the brain remained unclear. Just over a century ago a German professor of physiology, Hermann Munk, argued against scientific community scepticism that because blindness could be caused by damage to the occipital lobes, these anatomical areas must have an important function in vision1. During the Russo–Japanese war of 1904–5, Tatsuji Inouye, a Japanese physician and pioneer vision researcher, began to correlate the visual difficulties of soldiers with their head wounds, thereby increasing our understanding of the role of the brain in vision.
Visual‐motor, visual‐perceptual, and fine motor outcomes in very‐low‐birthweight children at 5 years
Authors: Goyen Traci‐Anne , Lui Kei , Woods Rachelle
Published: July 2010

The prevalence and severity of visual‐motor deficits and the relation of visual‐motor function to visual perception and fine motor skills was examined in a group of 83 neurologically and intellectually normal (IQ>84) very‐low‐birthweight (VLBW) children at age 5. Fifteen children (17%) had below average visual motor scores (<1SD below mean). While relatively few children (N=9) had below average scores in visual perception (11%), 58 (71%) had below average scores for fine motor skills. Nineteen (23%) were considered impaired (<1.5SD); of these, eight were severely impaired (<2SD). Fine motor scores were significantly lower in children who had been born <28 weeks' gestation, with hyaline membrane disease, or had required a longer period of ventilation. There was significant correlation between visual‐motor and fine motor scores (r = 0.50, P < 0.001) and between visual‐motor and visual perception scores (r = 0.42, P < 0.001). The implications of these findings and management of these ‘normal’ children need further research. Previous reports of visual‐motor dysfunction in school‐age VLBW children could be related to fine motor difficulties.
Speech, cognition, and imaging studies in congenital ocular motor apraxia
Authors: FRCP James E Jan MD , MSc Sheila Kearney , RPsych Maryke Groenveld PhD , FRCP Michael A Sargent FRCR , FRCP Kenneth J Poskitt MD
Published: July 2010

Detailed neurological, speech and language, psychological, and neuroimaging studies were carried out in eight children with the diagnosis of congenital ocular motor apraxia. The neurological examination showed clinical evidence of cerebellar vermis abnormality (hypotonia and truncal ataxia) in all cases. Neuroimaging studies suggested that the site of neuropathological disturbance of congenital ocular motor apraxia was the inferior vermis. Half of the subjects had associated speech apraxia. The most likely location of brain disturbance, which was responsible for the speech apraxia, was also an as yet undefined area of the vermis. Psychological testing consistently revealed visual‐spatial difficulties. These may have been secondary to cerebellar pathology or to developmentally inappropriate sensory input caused by the abnormal saccades. Children with speech apraxia appear to be slightly more affected neurologically than those with normal speech.
The timing of prehensile movements in subjects with cerebral palsy
Authors: Steenbergen Bert , NICI Wouter Hulstijn , NICI Ingrid H L Lemmens , NICI Ruud G J Meulenbroek
Published: July 2010

In this study, a paradigm is presented for the assessment of manual dexterity in subjects With cerebral palsy (CP) that divides the prehensile action into a ‘time‐to‐contact’ phase and a ‘time‐in‐contact’ phase. Two experiments were performed that determined the effect of object weight on the timing of both phases for the impaired hand and non‐impaired hand of subjects with spastic hemiparesis (N = 14). In the first experiment, subjects had to reach for and lift a tube at their own preferred speed. The results showed that the prehensile deficit of the impaired limb is to a large degree manifested by a longer time spent in contact with the object before it was lifted. The time‐in‐contact phase was decreased after repeated lifts, suggesting that subjects with CP can control and modify force output in advance based on weight information from preceding lifts. In the second experiment speed of movement execution was stressed to examine whether the observed timing pattern of the first experiment is characteristic of prehensile movements of the paretic arm or represents a movement strategy adapted to the disorder. The results of the second experiment showed that subjects could comply with the instruction by reducing the absolute duration of both phases of the prehensile movement. Furthermore, the anticipation effects were eliminated to a large degree. In both experiments the time‐in‐contact phase was longer for the impaired limb. These results indicate a pathological constant in the time‐in‐contact phase for the impaired limb. This assumption is discussed in relation to the application of grip and lift forces during this phase. It is concluded that the paradigm is well suited for use in a practical setting as a simple and broad clinical test to assess the prehensile decrements of subjects with CP.
Uterine didelphys and occult spinal dysraphism: an unusual case
Authors: Wong Emily Y
Published: July 2010

This report describes a case of uterine didelphys, lipomeningocele, meatal stenosis, and inguinal hernia presenting in a single individual. This unusual group of birth defects suggests a common mechanism of malformation in tailbud maturation which involves both the müllerian duct and the distal spinal cord.
Behaviours caregivers use to determine pain in non‐verbal, cognitively impaired individuals
Authors: Patrick J McGrath PhD  , Christina Rosmus MN  , Carol Canfield MD  , Mary Ann Campbell BA  , Allan Hennigar BSc;
Published: July 2010

To create a checklist of behaviours that caregivers could use to determine pain in non‐verbal individuals with mental retardationa, primary caregivers were recruited by the Division of Neurology and interviewed using a semistructured interview. Caregivers of 20 individuals were asked to recall two instances of short, sharp pain and two of longer‐lasting pain and describe the individual's behaviour. Transcribed interviews were reviewed by two of the authors and sets of non‐overlapping items were developed. Average age of the 20 individuals was 14.5 years (range 6 to 29 years) and language level averaged 10 months as scored by the MacArthur Communicative Development Inventory. All had mental retardation and 18 had epilepsy and spastic quadriplegia or hemiparesis. Thirty‐one behaviours were extracted from the interviews. The specific behaviours were often different from one child to another but the classes of behaviours (Vocal, Eating/Sleeping, Social/Personality, Facial expression of pain, Activity, Body and limbs, and Physiological) were common to almost all children. Reliability of using the checklist on interviews was very good (kappa=0.77). The checklist has excellent content validity and will be useful for caregivers of cognitively‐impaired, non‐verbal individuals to report on pain behaviours. Further research is needed to additionally assess its validity and sensitivity.
Cerebral aqueduct stenosis presenting with limb pain
Authors: Gallagher Andrew C , Trounce John Q
Published: July 2010

Two children are reported with hydrocephalus and aqueduct stenosis who presented with back and limb pains. Neither had the classic symptoms of headache and vomiting. The children had enlarged heads and later developed ataxic gait and papilloedema. The cause of the pains is uncertain but similar symptoms have been reported in subjects with benign intracranial hypertension and may relate to spinal nerve root pouch distension. Operative ventricular drainage resulted in rapid improvement of all symptoms in both children.
Prevalence of cerebral palsy in Slovenia: birth years 1981 to 1990
Authors: Kavčič Anamarija , Perat Milivoj Veličković
Published: July 2010

Changes in the prevalence of cerebral palsy (CP) in a population of Slovenian children born between 1981 and 1990 were determined. A population‐based birth‐cohort study was undertaken. Seven hundred and sixty‐eight children with CP (aged 5 to 14 years) were identified from the National Cerebral Palsy Register in 1995. Spastic syndromes accounted for 84.8%. Of the 768 children studied, the total prevalence of CP per 1000 live births fell significantly from 3.3 in 1981 to 2.3 in 1990. This decreasing trend was observed in children born at <38 weeks of gestation and in those with a birthweight of <1500 g, but the prevalence of CP remained fairly constant in those born at ≥38 weeks of gestation and in those with a birthweight of ≥2500g. The results show that a statistically significant improvement in the survival rate of infants born in Slovenia between 1981 and 1990 was not accompanied by an increase in the prevalence of CP. Additionally, in the group of very‐low‐birthweight infants the prevalence of CP considerably decreased.
Epileptic aphasia: a consequence of regional hypometabolic encephalopathy?
Authors: O'Regan ME , Brown JK , Goodwin GM , Clarke M.
Published: July 2010

A series of 25 children, 13 females and 12 males, who had an acquired communication disorder together with epilepsy, but did not fulfil the strict criteria of the Landau‐Kleffner syndrome, was studied. All children had a clinical neurological evaluation, speech and language assessment, an awake and sleep EEG, cranial MRI, SPET scan, and audiometry. Clinical seizures were most often polymorphic in type (17 of 25). Atypical absences were the commonest individual seizure type occurring in 15 cases. All patients had an unequivocal epileptiform EEG. Normal sleep phenomena were only observed in 10 cases, enhancement of epileptiform activity in sleep was seen in 16. Cranial MRI was abnormal in six and normal in 19 cases. The SPET scans were abnormal in 22 of 25 children. The language deficits were classified neurologically as receptive aphasia, 24 of 25; expressive aphasia, 20 of 25; nominal aphasia, eight of 25; articulator dyspraxia, 10 of 25; and auditory agnosia, nine of 25. It is hypothesized that the loss of communication skills is due to an encephalopathy secondary to the persistent epileptic discharge and manifests as a hypometabolic area on the SPET scan.
Cognitive deficits associated with frontal‐lobe infarction in children with sickle cell disease
Authors: Watkins KE , Hewes D E M , Connelly A. , Kendall BE , Kingsley D P E , Evans J E P , Gadian DG , Vargha‐Khadem F. , Kirkham FJ
Published: July 2010

This study examined the cognitive manifestations of frontal‐lobe infarction in a population of children with sickle cell disease (SCD). Forty‐one patients with SCD underwent MRI. Five patients with stroke symptoms had large infarcts encroaching on the tissue of the frontal lobes. Four patients without symptoms had smaller frontal‐lobe infarcts. The patients with stroke were significantly impaired on measures of intelligence, memory, and frontal‐lobe function (Wisconsin Card Sorting Test, WCST) compared with both the patients with normal MRI scans (N= 30) and a group of sibling controls (N= 15), who did not differ from each other. Patients with covert infarction obtained scores on the intelligence tests and the WCST that fell in between those of the stroke patients and the other two groups. This trend toward impairment suggests that patients with covert infarction are at similar risk for cognitive deficits to those with stroke.
Do hyperactive children have motor organization and/or execution deficits?
Authors: Leung Patrick WL , Connolly Kevin J
Published: July 2010

Hyperactive children have been described as motorically clumsy. To explore the validity of this assertion, an experiment using the additive factor method was designed to examine motor organization and execution in hyperactive children. Four groups of boys aged 7 to 8 years took part in the study: (1) a pure hyperactive (HA) group, N=20; (2) a pure conduct‐disordered (CD) group, N=18; (3) a mixed hyperactive/conduct‐disordered (HA+CD) group, N=12; (4) a normal (N) control group, N=22. While the small sample size precluded a definitive conclusion, the results indicated that neither HA nor CD children showed any motor organization or execution deficit in a simple sequential key‐tapping task. Given previous findings indicating that hyperactive children show deficits in more complex motor coordination skills, the generalizability of our negative results needs to be examined on other more complex tasks.
Aetiological factors and prevalence of severe mental retardation in children in a Swedish municipality: the possible role of consanguinity
Authors: Fernell Elisabeth
Published: July 2010

The prevalence of severe mental retardation (SMR) was studied in one of the 24 suburban municipalities in Stockholm. The study area had a high proportion of non‐European nationals. The study population comprised 14138 children born between 1979 and 1992 who resided in this municipality on the census day, 31 December 1995. The total prevalence of SMR was 4.5 per 1000, being 3.7 per 1000 and 5.9 per 1000 in the European and in the non‐European population, respectively. The majority of cases (66%) had a definite prenatal origin. Down syndrome was the cause in 20%. Six families (10%) had at least two children with SMR. It was concluded that the prevalence was higher than in previous Swedish studies. Many cases were attributed to genetic factors. Consanguineous marriages were assumed to be a factor of importance in the distribution of aetiologies. Demographic differences between areas in Sweden must be considered when planning habilitation services.