bluuebunny/crossref_metadata_2025 huggingface dataset:
Low melatonin production in infants with a life‐threatening event
Authors: Sivan Yakov , Laudon Moshe , Kuint Jacob , Zisapel Nava
Published: July 2010

This study compares the urinary excretion of the main melatonin metabolite, 6‐sulfatoxymelatonin (6SMT), in infants who have and have not experienced a life‐threatening event (ALTE). 6SMT was assessed in the following groups of infants: 15 infants with ALTE for whom home monitoring had been recommended, 15 infants who had had an abrupt cyanotic apneic event but did not require mouth‐to‐mouth resuscitation, 15 siblings of those who had died from sudden infant death syndrome (SIDS), and 35 age‐matched healthy comparison infants. All 80 infants were between 48 and 58 weeks of postconceptional age. On a double‐blind basis, the total amount of 6SMT excreted over 24 hours and the diurnal rhythm in the rate of 6SMT excretion were assessed using urine samples taken from disposable diapers (nappies). The mean daily excretion of 6SMT was significantly lower in the ALTE (1588ng/24 hour) than in the comparison infants (3961 ng/24 hour). No such difference was found between the infants with a cyanotic apneic event (3268 ng/24 hour) and the SIDS siblings (2962 ng/24 hour). The diurnal 6SMT rhythms in the ALTE infants were characterized by lower 24‐hour mean and amplitude values, whereas the time of peak and nadir excretion rates (07:15 to 08:45 hours and 14:45 to 16:15 hours respectively) was similar in all four infant groups. Follow‐up of the ALTE infants, performed 6 to 8 weeks later (59 to 66 weeks of postconceptional age), revealed that 6SMT excretion increased in all of them, suggesting a delayed ontogeny rather than permanent deficiency of melatonin production in ALTE.
3‐phosphoglycerate dehydrogenase deficiency in a patient with West syndrome
Authors: Pineda M , Vilaseca M A , Artuch R , Santos S , González MM García , Sau I , Aracil A , Van Schaftingen E , Jaeken J
Published: July 2010

3‐phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a). The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs. Treatment with oral L‐serine abolished seizures and improved psychomotor development, hyperexcitability, head growth, cortical and subcortical hypotrophy, and hypomyelination of the brain on MRI scans. 3–phosphoglycerate dehydrogenase deficiency is a treatable congential error that probably leads to West syndrome.
Motor performance in girls with Turner syndrome
Authors: Nijhuis‐van der Sanden Ria WG , Smits‐Engelsman Bouwien CM , Eling Paul ATM
Published: July 2010

In order to validate the movement problems in daily life for girls with Turner syndrome (TS), as reported by teachers, parents, and the girls themselves, we examined whether these girls have impaired motor ability and a specific pattern of motor impairment. As TS phenotypes are characterized by a particular profile of normal Verbal IQ (VIQ) and lowered Performance IQ (PIQ), we investigated whether there is a significant correlation between intelligence scores and motor performance scores. Fifteen girls with TS (age range 5.8 to 12.5 years), of whom nine had 45 XO karyotype and six girls mosaic karyotype, were individually tested on the Movement Assessment Battery for Children (MABC; Henderson and Sugden 1992, Smits‐Engelsman 1998), and the Wechsler Intelligence Scale‐Revised (WISC‐RN; Vander Steene et al. 1986). Mean percentile score on the MABC was 2.93 (range 1 to 8). Based on the total score of the MABC, none of the girls with TS fell into the ‘normal’ range; five patients were classified as ‘at risk’ and 10 as ‘impaired’. Girls with TS made more errors and needed more time across all items tested; no specific profile of impairment was observed and no significant correlation between intelligence scores and motor performance scores was found. The results clearly demonstrate that girls with TS indeed experience a significant general motor impairment. The motor problems apparently cannot be attributed to cognitive problems.
Developmental outcome of school‐age children born to mothers with heroin dependency: importance of environmental factors
Authors: Ornoy Asher , Segal Jacob , Bar‐Hamburger Rachel , Greenbaum Charles
Published: July 2010

Development of children aged 5 to 12 years born to mothers with heroin dependency raised at home or adopted was studied in comparison with: (1) children with environmental deprivation alone (i.e. low parental socioeconomic status [SES] and evidence of neglect), (2) children born to fathers with heroin dependency fathers, and (3) control individuals of average SES. One hundred and sixty children (84 males and 76 females; average age at examination 8 years) were evaluated between 1998 and 1999. All were attending mainstream schools. All participants were examined by a paediatrician and a psychologist using standard neurological and psychological age‐appropriate tests, as well as tests and questionnaires to assess learning ability and attention span. The Conners and Achenbach questionnaires and the Pollack Taper test were used to assess possible presence of attention‐deficit‐hyperactivity disorder (ADHD). Mothers were assessed for ADHD using Wender's questionnaire. Children born to parents with heroin dependency raised at home and those of low SES exhibited intellectual impairment both on verbal and performance skills. They also had impaired reading and arithmetic skills. Children born to mothers with heroin dependency but who were adopted at a young age had normal intellectual and learning abilities, except for some reduced function on the performance Wechsler Intelligence Scale for Children‐Revised. We found a high rate of ADHD among all children born to parents with heroin dependency, including those adopted, as well as in children with low parental SES. The highest rate of ADHD was in children born to mothers with heroin dependency raised at home, being twice that observed in the other groups. Mothers of these groups of children also had a high rate of ADHD.
Is increased D2 receptor availability associated with response to stimulant medication in ADHD
Authors: Ilgin N , Senol S , Gucuyener K , Gokcora N , Atavci S , Sener S
Published: July 2010

The purpose of this study was to estimate striatal dopamine (D2) receptor availability in non‐drug treated children with attention‐deficit‐hyperactivity disorder (ADHD) before and after methylphenidate therapy, and to examine correlations between severity of symptoms and response rates to stimulant medication with levels of striatal D2 receptor binding. Nine children (six males, three females; mean age 9.8 years, SD 2.3 years) with ADHD participated. All underwent iodobenzamide (123I IBZM) brain SPECT within 2 hours following intravenous injection of 123I IBZM before and 3 months after methylphenidate therapy. A semiquantitative approach was used to generate indices of specific D2 receptor binding in the basal ganglia. Specific binding ratios at baseline were higher than the previously reported specific binding values obtained in studies using young healthy adults. D2 availability reduced significantly (pairedt‐test,p<0.05) as a function of methylphenidate therapy in patients with ADHD in all four regions of the striatum. When the relation between therapy response and D2 availability was investigated, we observed that the higher the baseline D2 levels were, the higher the response rate was (detected as the percentage reduction of hyperactivity scores and Conners Teacher Rating Scale scores), while no such trend was observed between the initial D2 binding levels and the response in attention‐deficit scores. Results indicate that in non‐drug treated children with ADHD, higher D2 receptor availability is observed at baseline which is down‐regulated back to reported near‐normal values after methylphenidate therapy. The effect of methylphenidate on D2 receptor levels in patients with ADHD is similar to that observed in healthy adults; a down‐regulation phenomenon within 0 to 30%. In addition, initially higher values of D2 availability seem to indicate better response to methylphenidate therapy in ADHD.
Architecture of the medial gastrocnemius in children with spastic diplegia
Authors: Shortland Adam P , Harris Charlotte A , Gough Martin , Robinson Richard O
Published: July 2010

Ultrasound images were obtained of the medial gastrocnemius at different ankle joint positions with the knee extended. Fascicle length and deep fascicle angle were measured in five normally developing adults (mean age 33 years, age range 24 to 36 years) and in five normally developing children (mean age 7.8 years, age range 7 to 11 years), and in seven children with spastic diplegia (mean age 10 years, age range 6 to 13 years). These architectural variables were similar in the groups of normally developing adults and children. Importantly, no statistical difference could be found between the normally developing children and those with diplegia for fascicle length. Deep fascicle angles were reduced significantly in the clinical group at a particular ankle joint angle but not at the resting angles. The difference in deep fascicle angles is explained as a function of resting muscle length and is not attributed any clinical importance. Our results do not explain the structural origin of muscle contracture explicitly. However, they do indicate that most of the fixed shortness in the medial gastrocnemii of ambulant children with spastic diplegia is not due to reduced muscle fascicle length. We suggest that muscle contracture may be better explained in terms of shortness of the aponeuroses of pennate muscles, such as the medial gastrocnemius, through reduced muscle fascicle diameter.
Multiple subpial transection in Landau‐Kleffner syndrome
Authors: Irwin Kate , Lees Janet , Polkey Charles , Alarcon Gonzalo , Binnie Colin , Smedley Martin , Baird Gillian , Robinson Richard O
Published: July 2010

We have considered multiple subpial transection (MST) as a treatment option for Landau‐Kleffner syndrome (LKS) for the past 6 years. The effect of this technique on language and cognitive ability, behaviour, seizures, and EEG abnormalities is analysed here. Five children (4 males, 1 female; aged 5.5 to 10 years) underwent MST with sufficiently detailed pre‐ and postoperative data for analysis. Behaviour and seizure frequency improved dramatically after surgery in all children. Improvement in language also occurred in all children, although none improved to an age‐appropriate level. All five had electrical status epilepticus in sleep (ESES) before surgery, which was eliminated by the procedure. One child has had an extension of his MST due to the recurrence of ESES and accompanying clinical deterioration with good effect. An attempt is made to set the effect of MST against the natural history of the condition. MST is an important treatment modality in LKS, although the timing of this intervention and its effect on final language outcome remains to be defined.
Severe congenital myotonic dystrophy and severe anaemia of prematurity in an infant of Jehovah's Witness parents
Authors: Horan Marie , Stutchfield Peter R
Published: July 2010

Severe congenital myotonic dystrophy (CMD) is an autosomal dominant condition characterized by hypotonia and respiratory insufficiency at birth. Terminal outcome has been reported in infants requiring ventilation for longer than 30 days. The case is reported of an infant born at 34 weeks’gestation with severe CMD. Infant survived following ventilatory support from birth until day 67 of life. Subcutaneous erythropoietin (600 units, three times weekly) was commenced on day 6 as the Jehovah's Witness parents were strongly opposed to blood transfusions. Haemoglobin fell to 5.8g/dL without adverse effects and then progressively rose to 15.4g/dL. No blood transfusions were necessary. This case illustrates that infants with severe CMD requiring ventilation for more than 30 days do not have a universally fatal outcome. Low haemoglobin was well tolerated which calls for re‐examination of the indications for blood transfusions in ventilated neonates.
Management of drooling in individuals with neurodisability: a surgical experience
Authors: Crysdale W S , Raveh E , McCann C , Roske L , Kotler A
Published: July 2010

From 1975 to 1 January 1999, 1103 neurologically involved patients (mean age 13.2 years; 686 males, 417 females) referred with problematic drooling, or sialorrhea, were assessed at a pediatric rehabilitation center by a team consisting of an otolaryngologist, speech pathologist, and a dentist. The initial standard treatment for persistent sialorrhea (in the compliant or aware patient) is oral‐motor training. A group of 522 patients with persistent significant drooling after a minimum of 6 months of oral‐motor training, or profuse drooling in the presence of a low cognitive level, underwent surgery, usually when over 6 years of age. From 1978 to 1 January 1998, the operation of first choice was submandibular duct relocation (SDR), and was completed in a total of 226 patients. Midway through 1988, sublingual gland excision was also completed at the time of submandibular duct relocation (SDRSGE); 249 of these procedures have been completed to January 1st 1999. Those patients who had SDRSGE had significantly fewer complications that required additional surgery than those that had SDR only. However, the impact of surgery on the drooling as evaluated in subsets of both groups (SDR n=115, SDRSGE n=106) was statistically similar. The study of 11 children with salivary gland radionuclitide scans to determine the effect of submandibular duct surgery on gland function was inconclusive. The pattern of oral‐motor function in 26 children studied after SDRSGE surgery suggested that those children with severe impairment of volitional motor function and profuse drooling tended to have a poorer outcome following surgery compared to those with milder impairments.
Maternal antecedents for cerebral palsy in extremely preterm babies: a case‐control study
Authors: Gray Peter H , Jones Peter , O'Callaghan Michael J
Published: July 2010

The study aimed to identify significant antenatal risk factors for cerebral palsy (CP) among extremely preterm infants with a matched case‐control design. Infants born between 1989 and 1996 at 24 to 27 weeks’gestation who survived to hospital discharge were evaluated: 30 with a proven diagnosis of CP at 2 years corrected for prematurity and 120 control children matched for gestational age without CP. Information on maternal obstetric risk factors and medication was obtained. Matched analyses were performed and odds ratios (OR) and 95% confidence intervals (CI) were calculated. An antenatal diagnosis of intrauterine growth restriction was associated with an increased risk of CP (OR 6.6; 95% CI 1.8 to 25.2), while maternal administration of corticosteroids was associated with a reduced risk of CP (OR 0.4; 95% CI 0.1 to 0.98). A high rate of placental histopathology was achieved but no relation between clinical or histological chorioamnionitis or funisitis and CP was demonstrated. Maternal preeclampsia was not associated with a statistically significant reduction in the risk of CP. It is concluded that a reduced risk of CP in extremely preterm infants is associated with the antenatal use of corticosteroids.
Williams syndrome and deficiency in visuospatial recognition
Authors: Nakamura Miho , Watanabe Kazuyoshi , Matsumoto Akiko , Yamanaka Tsutomu , Kumagai Toshiyuki , Miyazaki Shuji , Matsushima Masaki , Mita Katsumi
Published: July 2010

This study aimed to assess the visuospatial abilities of five children with Williams syndrome (four males aged 9 years 3 months, 7 years 11 months, 8 years 1 month, and 10 years 8 months respectively, and one female aged 6 years 3 months). First, the children's visuospatial abilities were examined by asking them to copy a figure. Second, their cognitive processing abilities were assessed using the Japanese Kaufman Assessment Battery for Children. This test was used because it is an objective one, standardized in Japan, and is a measure of fluid ability including spatial localization. Participants scored significantly low on the spatial memory subtest indicating that there was a deficit in spatial localization. Children's performance in line copying tasks improved when the dots were in colour. Results suggest a deficit in the dorsal stream of visual cognition, with a relatively preserved ventral stream.
Independent ambulators with high sacral my elomeningocele: the relation between walking kinematics and energy consumption
Authors: Bare Aaron , Vankoski Stephen J , Dias Luciano , Danduran Michael , Boas Steven
Published: July 2010

The aims of this study were to determine the relation between gait kinematics (center of mass excursions) and measures of oxygen consumption and oxygen cost. Fourteen independent ambulating children with myelomeningocele (nine females, five males; mean age 8 years 7 months) and thirteen children with no history of neuromuscular disorder were evaluated. At their comfortable walking speed all patients exhibited oxygen cost and oxygen consumption values that exceeded the normal level by more than 1 SD. Pelvic obliquity demonstrated the strongest relation with oxygen cost which suggests that ultimately hip abductor strength may play a key role in energy demands during gait. Despite the exaggerated pelvic kinematics, vertical and horizontal center of mass excursions of the trunk and whole‐body during the gait cycle were not significantly greater than normal (p>0.05). Decreased self‐selected walking velocity at which many of these children consider comfortable and stable may be predicated on an optimal center of mass movement that approximates the magnitude observed in normal gait. The slower walking velocity decreases walking efficiency. Conversely, the increased center of mass movement that would accompany a faster gait would probably impose intolerable oxygen consumption levels. Strengthening programs that focus on the gluteus medius and maximus to decrease compensatory trunk and pelvic motions, allowing the patients to adopt a faster gait without exacerbating kinematic and center of mass motions and which enabled more efficient walking hold promise for these patients.
Cerebral function monitoring in paediatric intensive care: useful features for predicting outcome
Authors: Murdoch‐Eaton Deborah , Darowski Mark , Livingston John
Published: July 2010

Neurological integrity in sick children is difficult to assess clinically. The aim of this study was to determine the predictive value of EEG activity recorded with a bedside EEG analysing monitor in an intensive care unit. EEG activity was monitored in 108 children (age range 2 weeks to 16 years, median 1.7 years) considered at risk for cerebral abnormalities with a cerebral function analysing monitor (CFAM). Recordings were evaluated for features of background EEG activity including mean amplitude, frequencies, and symmetry. Electrical seizure activity was quantified if present. Predictive value of the EEG features was evaluated relative to the clinical neurological outcome after one year. Asymmetrical recordings were not seen in any child with a normal outcome. Suppression of background activity was seen in 75% of the children who died. Seizures were present in 68% of children with a poor outcome. Seventeen of the 32 children (65%) who died had prolonged seizures. Absence of seizures and the presence of superimposed fast EEG activity in response to benzodiazepine infusions correlated with good outcome. A combination of two or more predictive EEG features demonstrated >90% specificity and positive predictive likelihood of poor outcome. EEG features provide information about the functional cerebral integrity of sick children. Changes in cerebral activity detected by the CFAM aid decision making by providing such information readily at the bedside in intensive care.
Gliomatosis cerebri in a 10–year‐old girl masquerading as diffuse encephalomyelitis and spinal cord tumour
Authors: Jayawant Sandeep , Neale Jim , Stoodley Neil , Wallace Sheila
Published: July 2010

Gliomatosis cerebri is the unifying term used when diffuse glial infiltration occurs throughout the cerebral hemispheres. The very few cases reported in children have presented with intractable epilepsy, corticospinal tract deficits, unilateral tremor, headaches, and developmental delay. Antemortem diagnosis is difficult because of the vagueness of the physical, radiological and pathological findings. Adult cases may simulate an acute diffuse encephalomyelitis and show postmortem evidence of a marked swelling of the spinal cord. Apparently benign intracranial hypertension with papilloedema has also been recorded. We report a 10–year‐old girl who presented with a history and physical signs suggestive of benign intracranial hypertension. A diffuse encephalomyelopathy occurred, which was complicated by spinal cord swelling, followed by deterioration and death. Gliomatosis cerebri affecting the brain and spinal cord was found at postmortem examination.
Characteristics and course of urinary tract dysfunction after acute transverse myelitis in childhood
Authors: Ganesan Vijeya , Borzyskowski Malgorzata
Published: July 2010

Bladder involvement is common in transverse myelitis but its characteristics and natural history, particularly in relation to neurological outcome, have not been described in a paediatric population previously. Ten children, with ages ranging from 8 months to 16 years, who had a diagnosis of acute transverse myelitis were studied with video urodynamics and followed up in a tertiary paediatric neurourology clinic. Nine often children had obstructive urinary tract symptoms at presentation and all went on to develop' irritative’urinary tract symptoms (frequency and urgency) about 1 month after initial presentation. Video urodynamics showed a combination of irritative (detrusor hyperreflexia) and obstructive (detrusor‐sphincter dyssynergia) abnormalities in most patients and enabled management to be specifically directed towards these. The patients progress was followed up for a median duration of 36 months. All had residual bladder dysfunction, only four were asymptomatic on treatment. The degree of recovery of bladder function was not related to the degree of motor recovery.
Angelman syndrome: evolution of the phenotype in adolescents and adults
Authors: Clayton‐Smith Jill
Published: July 2010

Individuals with Angelman syndrome (AS) have severe learning disability, * at axia, seizures, dysmorphic facies, a happy, sociable disposition, and inability to speak. Most of the literature concerning the clinical features of AS has concentrated on younger children. This study aimed to look at the natural history of AS by documenting the clinical features in a group of 28 adolescents and adults with AS (12 males, 16 females; age range 16 to 40 years). Specific aspects studied included physical characteristics, general health, mobility, seizure disorder, behaviour and communication, and self‐help skills. Problems seen in this older group of individuals differed significantly from those typically observed in younger children. The incidence of scoliosis and joint contractures increased with age. Facial features were more striking in adults. Hyperactivity and concentration improved and the sociable disposition persisted. There were subtle clinical differences between the groups of individuals with different underlying genetic abnormalities. Information obtained from this study is relevant to diagnosis and management of older individuals with AS.
Quantitative evaluation of thalami and basal ganglia in infants with periventricular leukomalacia
Authors: Lin Yanping , Okumura Akihisa , Hayakawa Fumio , Kato Toru , Kuno Kuniyoshi , Watanabe Kazuyoshi
Published: July 2010

Quantitative analyses of cross‐sectional areas of the thalami, caudate nuclei, and lentiform nuclei were performed in 29 preterm infants (16 males, 13 females; mean age 29.6 weeks, age range 27 to 24 weeks,) with periventricular leukomalacia (PVL). MRI was carried out in the infants between 9 and 18 months of corrected age and in 16 control infants. Bilateral thalami, caudate nuclei, lentiform nuclei, cerebral hemispheres, and cerebellum were measured by computer. Ratios of the areas of the thalami (Th), caudate nuclei (Ca), lentiform nuclei (Le), and cerebral hemispheres (CH) to that of the cerebellum (Ce) were calculated in each infant. The ratio of Th:Ce was significantly smaller in infants with moderate and severe PVL than in the control group bilaterally. Abnormal intensity areas were not observed in the thalami in any infants with PVL. CH:Ce was also smaller in infants with severe PVL than in the control group. No significant difference was observed between the groups in ratios Le:Ce or Ca:Ce. Results of our study suggest that the volume of the thalami is reduced and that thalamic involvement is present in infants with white matter lesions who have moderate to severe PVL.
Effect of a rigid ankle‐foot orthosis on hamstring length in children with hemiplegia
Authors: Thompson N S , Taylor T C , McCarthy K R , Cosgrove A P , Baker R J
Published: July 2010

Eighteen children with hemiplegia, mean age 8 years 5 months, underwent gait analysis and musculoskeletal modelling using specially designed software. The maximum lengths of the hamstrings were determined for each child walking in and out of an ankle‐foot orthosis (AFO). The muscles were deemed to be short if shorter than the normal average ‐1SD. In bare feet 8 participants had short medial hamstrings with a higher proportion of these in the less involved individuals. All participants showed an increase in maximum hamstring length when wearing an AFO. In all but one child this was sufficient to restore hamstring length to within normal limits. These finding suggest that hamstring pathology in hemiplegic gait is usually secondary to more distal lower limb pathology.
Correlation of SPECT with pathology and seizure outcome in children undergoing epilepsy surgery
Authors: Hartley L M , Gordon I , Harkness W , Harding B , Neville B G R , Cross JH
Published: July 2010

SPECT can be used to image regional cerebral blood flow (rCBF) and has been shown to help localize the seizure focus in partial epilepsies as part of the presurgical evaluation. Few studies have explored the possible relation between preoperative SPECT and underlying pathology, or any relation to postsurgical outcome. In this study preoperative ictal and interictal rCBF in relation to the histopathological diagnosis and outcome in a series of 35 children (24 females, 11 males; mean age 9.6 years, age range 11 months to 18 years) who had undergone resective surgery for epilepsy were retrospectively evaluated. A correlation between ictal hyperperfusion and the underlying responsible pathology was shown, with a consistent ictal increase in perfusion in developmental pathologies and Rasmussen's encephalitis, and consistent interictal hypoperfusion in hippocampal sclerosis (HS). No rCBF study parameter appeared to relate to outcome but in the group with HS the best outcome was seen in those with localizing ictal rCBF. The varied group of pathologies from hemispherectomy had excellent outcome but the SPECT findings had little to contribute over the abnormalities detected on MRI. In conclusion, rCBF studies remain a useful presurgical investigation in children with partial epilepsy, especially where HS, cortical dysplasia, or inflammatory disease are the underlying pathology. However, rCBF studies add little to the investigation of children with seizures secondary to benign tumours or cerebral infarcts, or where hemispherectomy is the likely preferred surgical option.
Performance of gesture in children with and without DCD: effects of sensory input modalities
Authors: Zoia Stefania , Pelamatti Giovanna , Cuttini Marina , Casotto Veronica , Scabar Aldo
Published: July 2010

This study aimed to investigate the extent to which gesture performance depends on input modality and whether gestural development patterns differ in children with and without developmental coordination disorder (DCD). Therefore, development of limb gesture was studied in 140 children ‐105 control children (94 males, 11 females) and in 35 children with DCD (29 males, six females) divided into three age bands: 5 to 6 years, 7 to 8 years, and 9 to 10 years. Transitive gestural skills were investigated through four input modalities: Imitation, Visual plus Tactile, Visual, and Verbal. Results indicate that limb gestural skills in normally developing children follow a progressive maturation pattern: Imitation, Visual plus Tactile, and visual routes appear to mature before the verbal route and appear to be available earlier to enable the child to perform a correct gesture. The performance of children with DCD throughout the four modalities suggested a general maturational delay. When gestures were required through the Verbal modality, there was a specific deficit in using sensory‐motor information and in integrating it into a motor representation. In the Verbal modality, children with DCD performed consistently worse than their control peers and the difference in performance tended to increase rather than improve with age.
Enlarged vestibular aqueduct in two male siblings
Authors: Varghese C M , Scampion P , Das V K , Gillespie J , Umapathy D
Published: July 2010

This report describes the case history of two male siblings with sensorineural hearing loss and an enlarged vestibular aqueduct (EVA). Sibling 1 presented with a history of intermittent self‐limiting ataxia and hearing loss at the age of 25 months and sibling 2 presented with a similar history at the age of 18 months. MRI showed an enlarged endolymphatic duct and sac bilaterally in both children. Perchlorate discharge tests were positive in both infants leading to a diagnosis of Pendred syndrome. A number of conditions associated with EVA are discussed with a view to devising management strategies.
Development of early motor skills and language in children at risk for familial dyslexia
Authors: Viholainen Helena , PhD Timo Ahonen , PhD Marja Cantell , Lyytinen Paula , Lyytinen Heikki
Published: July 2010

Differences in motor development and the relationship between motor and language development were studied in 88 children with familial risk for dyslexia (43 females, 45 males; at‐risk group) and 88 children without familial risk for dyslexia (35 females, 53 females; control group; n=176) during the first two years of life. A structured parental questionnaire was used to assess motor development. Expressive language skills were assessed at the age of 18 months with the Reynell Developmental Language Scales and at 18 and 24 months with the MacArthur Communicative Development Inventories. At group level, the motor development of children in both the at‐risk and control groups was similar. However, motor development showed a different pattern in these groups. Cluster analyses revealed three clusters in the control group: ‘fast motor development’, ‘slow fine motor development’, and ‘slow gross motor development’. In the at‐risk group, only two clusters were found: 'slow motor development’ and ‘fast motor development’. A significant difference (p=0.03) was found between the clusters in the MacArthur Communicative Development Inventories. Children with familial risk for dyslexia and slow motor development had a smaller vocabulary and produced shorter sentences than the all other children. Associations between motor and language difficulties are discussed.
What does the Ashworth scale really measure and are instrumented measures more valid and precise?
Authors: Damiano Diane L , Quinlivan Jeffrey M , Owen Bryan F , Payne Patricia , Nelson Karen C , Abel Mark F
Published: July 2010

This study aimed to explore the limitations of the Ashworth scale for measuring spasticity. An isokinetic dynamometer to quantify resistance to passive stretch and surface EMG was used to verify if a stretch response occurred and, if so, at what joint angle. The authors sought to determine which components of passive resistance (magnitude, rate of change, onset angle of stretch, or velocity dependence) were most related to Ashworth scores and which were related to motor function in cerebral palsy (CP). Twenty‐two individuals with spastic CP (11 males, 11 females; mean age 11.9 years, SD 4.3) and a comparison group of nine children without CP (four males, five females; mean age 11.3 years, SD 2.5) participated in the study. The group with CP included those with a diagnosis of spastic diplegia, hemiplegia, or quadriplegia, distributed across Gross Motor Functional Classification Levels. Procedures included: (1) clinical assessment at the knee joint, (2) functional assessments, and (3) isokinetic assessment of passive resistance torque in hamstrings and quadriceps at three velocities. EMG data were recorded simultaneously to identify stretch responses. Detecting stretch responses using the Ashworth scale compared with instrumented measures showed near complete agreement at extremes of the scale, with marked inconsistencies in mid‐range values. Ashworth scores were correlated with instrumented measures, particularly for the quadriceps, with higher correlations to the rate of change in resistance (stiffness) and onset angle of stretch than to peak resistance torque. Those with greater resistance tended to have poorer function with isokinetic relations typically stronger.
Intelligence in preterm children at four years of age as a predictor of school function: a longitudinal controlled study
Authors: Hansen Bo Mølholm , Dinesen Juliane , Hoff Barbara , Greisen Gorm
Published: July 2010

The aim of the study was to examine whether school performance was reduced in children with very‐low birthweight beyond what could be explained by the deficit in intelligence‐score at 4 years of age. Participants (n=333) examined at 4 years of age included three subgroups on the basis of birthweight: very‐low birthweight (VLBW <1501g; n=102), low birthweight (LBW 1500–2300g; n=139), and normal birthweight (NBW ·2500g; n=92). The general cognitive index index (CGI) from the McCarthy Scales of Children's Abilities was used as an intelligence measurement at this assessment. At 18 to 20 years of age a telephone interview concerning school performance was conducted. Two hundred and fifty‐seven participants (53% male, 47% female) entered the analysis. A model with School Performance score after the last year of compulsory school as the outcome variable, and McCarthy GCI and birthweight group as predicting variables, was used in linear regression analyses. Twenty‐four per cent of the variance was explained. Birthweight had no influence in this model. In conclusion, the study did not find that birthweight influenced school performance beyond that represented by the McCarthy GCI found at age 4 years.
Changes in hip spasticity and strength following selective dorsal rhizotomy and physical therapy for spastic cerebral palsy
Authors: Engsberg Jack R , Ross Sandy A , Wagner Joanne M , Park T S
Published: July 2010

Hip adductor spasticity and strength in participants with cerebral palsy (CP) were quantified before and after selective dorsal rhizotomy (SDR) and intensive physical therapy. Twenty‐four participants with cerebral palsy (CP group) and 35 non‐disabled participants (ND controls) were tested with a dynamometer (CP group: mean age 8 years 5 months, 13 males, 11 females; ND group: mean age 8 years 6 months, 19 males, 16 females). According to the Gross Motor Function Classification System (GMFCS), of the 24 participants with CP, eight were at level I, six were at level II, and 10 participants were at level III. For the spasticity measure, the dynamometer quantified the resistive torque of the hip adductors during passive abduction at 4 speeds. The adductor strength test recorded a maximum concentric contraction. CP group spasticity was significantly reduced following SDR and adductor strength was significantly increased after surgery. Both pre‐ and postoperative values remained significantly less than the ND controls. Spasticity results agreed with previous studies indicating a reduction. Strength results conflicted with previous literature subjectively reporting a decrease following SDR. However, results agreed with previous objective investigations examining knee and ankle strength, suggesting strength did not decrease following SDR.
Validity of the Test of Infant Motor Performance for prediction of 6‐, 9‐ and 12‐month scores on the Alberta Infant Motor Scale
Authors: Campbell Suzann K , Kolobe Thubi H A , Wright Benjamin D , Linacre John Michael
Published: July 2010

The Test of Infant Motor Performance (TIMP) is a test of functional movement in infants from 32 weeks’post‐conceptional age to 4 months postterm. The purpose of this study was to assess in 96 infants (44 females, 52 males) with varying risk, the relation between measures on the TIMP at 7, 30,60, and 90 days after term age and percentile ranks (PR) on the Alberta Infant Motor Scale (AIMS). Correlation between scores on the TIMP and the AIMS was highest for TIMP tests at 90 days and AIMS testing at 6 months (r=0.67,p=0.0001), but all comparisons were statistically significant except those between the TIMP at 7 days and AIMS PR at 9 months. In a multiple regression analysis combining a perinatal risk score and 7‐day TIMP measures to predict 12‐month AIMS PR, risk, but not TIMP, predicted outcome (21% of variance explained). At older ages TIMP measures made increasing contributions to prediction of 12‐month AIMS PR (30% of variance explained by 90‐day TIMP). The best TIMP score to maximize specificity and correctly identify 84% of the infants above versus below the 10th PR at 6 months was a cut‐off point of 1 SD below the mean. The same cut‐off point correctly identified 88% of the infants at 12 months. A cut‐off of‐0.5 SD, however, maximized sensitivity at 92%. A negative test result, i.e. score above ‐0.5 SD at 3 months, carried only a 2% probability of a poor 12‐month outcome. We conclude that TIMP scores significantly predict AIMS PR 6 to 12 months later, but the TIMP at 3 months of age has the greatest degree of validity for predicting motor performance on the AIMS at 12 months and can be used clinically to identify infants likely to benefit from intervention.
Visual‐perceptual impairment in a random sample of children with cerebral palsy
Authors: Stiers Peter , Vanneste Griet , Coene Stien , Vandenbussche Erik
Published: July 2010

Several studies have tried to establish the prevalence of visual‐perceptual impairment in children with physical disabilities, particularly in those with cerebral palsy (CP), but failed to take into account the selective impairment of nonverbal intelligence that is frequent in these children. This has resulted in the confounding of visual‐perceptual and non‐verbal intelligence impairment. In the present study we aimed to determine how widespread visual‐perceptual impairment is in children with CP by evaluating perceptual ability together with the performance level on non‐verbal intelligence subtests. All children (n=96; 44 females, 52 males) who attended an institute for children with physical disabilities were included (age ranged from 4 years 11 months to 21 years 5 months) who had a nonverbal mental age between 3 and 7 years; Total IQ was <85 in 91% of participants. They were given a grating acuity task and the visual‐perceptual battery L94, comprising six visual object recognition and two visuoconstruction tasks. Relative to their performance level on non‐verbal intelligence subtests, 37.5% of the children were impaired on at least one task, and 18.7% on two or more tasks. No child was impaired on the visuoconstruction tasks. Visual‐perceptual impairment was highest among six children with brain malformation (67%), followed by spastic CP (40%), and brain damage acquired after the first year of life (38%). There was no difference in visual‐perceptual impairment between the subtypes of spastic CP. Results are not secondary to visual acuity deficits, as only one L94 task was significantly correlated with acuity impairment. We conclude that visual‐perceptual impairment is frequent in children with physical disabilities, and not restricted to children with CP of hypoxic‐ischaemic origin.
Two siblings with a new Aicardi‐Goutières‐like syndrome
Authors: Schwarz K B , Ferrie C D , Woods C G
Published: July 2010

We present two siblings (male and female) with very similar characteristics comprising dysmorphic features, severe developmental delay, progressive microcephaly, tonic seizures, and hypothyroidism. The male also had micropenis and cryptorchidism. Both children developed pericardial effusions which caused the death of the female at age 16 months. The male's cardiac function was stable at last follow‐up at the age of 15 months. Cerebral imaging showed widespread intracranial calcifications, delay in myelination, hypoplasia of the corpus callosum, and cerebral atrophy. CSF examination showed normal CSF white‐cell count and was negative for interferon, although a cytotoxic antibody was thought to be present. Other causes of a neurodegenerative condition and congenital infection were excluded. The combination of these features has not been described before. We believe that these patients represent a new syndrome which has some of the features of Aicardi‐Goutières syndrome but is distinct from it.
Comparing tests of tactile sensibility: aspects relevant to testing children with spastic hemiplegia
Authors: Krumlinde‐Sundholm Lena , Eliasson Ann‐Christin
Published: July 2010

Children with hemiplegic cerebral palsy (CP) commonly exhibit tactile sensory deficiencies in their hands in addition to their motor problems. The aim of this study was to compare and evaluate the usefulness of some common tests of tactile sensibility for use with children with hemiplegic CP. Twenty‐five children with hemiplegia aged between 5 and 18 years, and 19 control individuals participated. All children were examined with Semmes‐Weinstein monofilaments, two‐point discrimination (2PD), stereognosis of familiar objects, stereognosis of forms, and functional sensibility. Dexterity, spasticity, and bimanual task performance were also assessed. Results from the different sensory tests deviated greatly. We found three tests to be useful: 2PD of 3mm spacing, which was the most sensitive test, stereognosis of familiar objects, and functional sensibility assessed through the Pick‐up test (comparing performance with and without the influence of vision). Stereognosis of forms and threshold values of touch (Semmes‐Weinstein monofilaments) are seemingly less useful tests for children with CNS impairments. Deficient sensibility was strongly related to dexterity. Aspects concerning the testing methodology are discussed.
Developmental outcome, including setback, in young children with severe visual impairment
Authors: Dale Naomi , Sonksen Patricia
Published: July 2010

This study retrospectively investigated the developmental perspective of 69 children (40 males, 29 females) with‘potentially simple’congenital disorders of the peripheral visual system: development was examined in the context of degree of visual impairment. Developmental and visual assessments were carried out at 10 to 16 months (Time 1) and 27 to 54 months of age (Time 2). Participants were grouped according to (1) visual status: profound visual impairment (PVI), severe visual impairment (SVI); (2) developmental status on the Reynell‐Zinkin scales. A majority of the sample showed normal development on all subscales (62% Time 1, 57% Time 2). Those with PVI were more developmentally vulnerable than SVI with a greater incidence of (1) uneven developmental profile at Time 1 (48% PVI, 16% SVI); (2) global learning difficulties at Time 2 (37% PVI, 0% SVI); (3) delay on individual subscales at Time 2 (p<0.02 PVI versus SVI); (4) deceleration (verbal comprehension 74% PVI, 24% SVI, sensorimotor understanding 70% PVI, 27% SVI); and (5) severe developmental setback (33% PVI, 7% SVI). Risk factors of visual level, age, and sex for poor developmental outcome in infants with visual impairment were established.
Object release under varying task constraints in children with hemiplegic cerebral palsy
Authors: Gordon Andrew M , Lewis Sarah R , Eliasson Ann‐Christin , Duff Susan V
Published: July 2010

Considerable attention has been given in recent years to fingertip force coordination during grasping and lifting small objects in children with cerebral palsy (CP). However, little is known about the children's ability to replace and release an object from grasp. The present study examined the coordination of fingertip forces during replacement and release of an object from grasp under varying task constraints in the involved hand of 15 children (10 males, five females, age range 7 to 14 years) with hemiplegic CP and in the non‐dominant hand of 15 age‐matched, typically‐developing children (seven males, eight females). Participants released an object, instrumented with force transducers and held with a precision grip, onto a stable surface and onto an unstable surface (requiring higher accuracy) at self‐paced and fast‐as‐possible speeds. Temporal and force measures were recorded and the dependent measures were tested using analyses of variance. Results showed that force coordination was impaired in children with hemiplegia, resulting in prolonged and uncoordinated replacement and release of the object (p<0.05). Differences between controls and children with hemiplegia were greater when speed and accuracy constraints were imposed (i.e. task performance was affected by these constraints to a greater extent in the children with CP, p<0.05). Impairments in temporal coordination of object release were also observed in the non‐involved hand under all conditions (p<0.05). These results provide additional information about impaired hand function in children with hemiplegic CP. Clinical implications of these findings are discussed.
A population survey of mental health problems in children with epilepsy
Authors: Davies Sharon , Heyman Isobel , Goodman Robert
Published: July 2010

The 1999 British Child and Adolescent Mental Health Survey, a nationwide epidemiological study of rates of psychiatric disorder in children aged 5 to 15 years, provided the opportunity to investigate the mental health of children with epilepsy. These children and their families experience disability specifically because of additional emotional, behavioural, and relationship problems, and this is the first epidemiological study that directly measures these impairments. Information was obtained by interviewing a main carer and teacher for 10316 children; 67 children with epilepsy were identified (35 males, 32 females; mean age 10 years 2 months, SD 2 years 11 months, range 5 to 15 years), and compared with the 47 children with diabetes (27 females, 20 males; mean age 10 years 4 months, SD 3 years 4 months, range 5 to 15 years) and 10202 controls (50% male; mean age 9 years 11 months, SD 3 years 1 month, range 5 to 15 years). DSM‐IV psychiatric diagnoses were derived from the Development and Well‐Being Assessment in combination with the interview and a specialist clinician rating. Parental reports of emotional and behavioural problems, their impact, and associated peer problems were also obtained. Rates of psychiatric disorder were 37% (95% confidence interval [CI] 22 to 49) in epilepsy, 11% (95% CI 2 to 19%) in diabetes, and 9% (95% CI 9 to 10%) in control children. Parents of children with epilepsy consistently reported more problems, with greater impact and associated peer problems. Epilepsy, but not diabetes, was independently (adjusted for age, sex, and severe learning difficulties) associated with all behavioural variables in regression analyses. Emotional, behavioural, and relationship difficulties are common in children with epilepsy, and constitute a significant burden to the children and their families, indicating the need for effective mental health services for these children.