bluuebunny/crossref_metadata_2025 huggingface dataset:
Infantile spasms and cytomegalovirus infection: antiviral and antiepileptic treatment
Authors: Dunin‐Wasowicz Dorota , Kasprzyk‐Obara Jolanta , Jurkiewicz Elzbieta , Kapusta Monika , Milewska‐Bobula Bogumila
Published: June 2009

From 1 January 1995 to 31 December 2004, 22 patients (13 males, nine females; age range 2‐12mo) with infantile spasms and cytomegalovirus (CMV) infection were treated with intravenous ganciclovir (GCV) and antiepileptic drugs. GCV was given for 3 to 12 weeks with a 1‐month interval (one, two, or three courses). Epileptic spasms occurred before (group A: eight patients), simultaneously (group B: eight patients), and after (group C: six patients) a diagnosis of human CMV (HCMV) infection and antiviral treatment. In 11 patients, DNA HCMV was found in cerebrospinal fluid by nested‐polymerase chain reaction method (neuroinfection). All infants excreted CMV in urine. DNA HCMV and specific immunoglobulin M and immunoglobulin G antibodies were present in blood. Ten patients, including four with neuroinfection, have been seizure‐free for at least the past 18 months. In two patients with neuroinfection, vigabatrin monotherapy was withdrawn after a 2 year 6 month seizure‐free period. Eighteen patients required antiepileptic drugs polytherapy, four of whom required additional adrenocorticotropic hormone (ACTH). Six patients on polytherapy were seizure‐free on follow‐up, two of whom were treated with ACTH, but no patient with hypsarrhythmia who required ACTH treatment was seizure‐free on follow‐up. In five patients, psychomotor development was normal, 16 had tetraplegia (Gross Motor Function Classification System [GMFCS] Level V), and one had diplegia (GMFCS Level III). Early antiviral and antiepileptic therapy could result in the long‐term cessation of seizures.
Transient exacerbation of hemiplegia following minor head trauma in Sturge–Weber syndrome
Authors: Zolkipli Z , Aylett S , Rankin P M , Neville B G R
Published: June 2009

Sturge‐Weber syndrome (SWS) is a sporadic disorder characterized by naevus (port wine stain), a pial angioma, and glaucoma. The angioma comprises abnormal tortuous vessels on the leptomeninges with underlying brain gliosis, calcification, and atrophy. The cerebral angioma is commonly unilateral but may be bilateral. Hemiplegia usually follows recurrent hemiconvulsions and may be related to venous stasis. The hemiplegia can be static, progressive, or fluctuating. Transient worsening of the hemiplegia can be seen with seizures and episodes resembling hemiplegic migraine. We report five patients (four females, one male) with SWS who have had transient worsening of hemiplegia following minor head injuries, occurring between the ages of 10 months and 12 years (median age 4y 6mo). An additional pilot survey suggests that this may affect up to 20% of patients.
Cerebral palsy after maternal trauma in pregnancy
Authors: Hayes B , Ryan S , Stephenson J B P , King M D
Published: June 2009

Ten children (six males, four females) with spastic (n=9) and mixed spastic‐dyskinetic (n=1) cerebral palsy were born at term to mothers who earlier in the pregnancy had been involved in accidents without suffering overt abdominal injury, placental abruption, or premature onset of labour. At follow‐up (at ages 2‐24y), Gross Motor Function Classification System levels were II (n=7) and V (n=3). Cognitive level was normal in five patients, while learning disability was mild to moderate in two and severe in three. Magnetic resonance imaging of the brain in all children, assessed blind to the dates of maternal trauma in pregnancy, showed lesions consistent with prenatal vascular insult at the time of the trauma. Feasible mechanisms of brain injury include reduced placental blood flow and/or placental embolization.
GLUT1 deficiency syndrome – 2007 update
Authors: Klepper Joerg , Leiendecker Baerbel
Published: June 2009

GLUT1 deficiency syndrome (GLUT1DS, OMIM 606777) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. The essential biochemical finding is a low glucose concentration in the cerebrospinal fluid (CSF; hypoglycorrhachia; mean 1.7 [SD 0.3mmol/L]) in the setting of normoglycaemia. CSF lactate is normal. Patients present with an early‐onset epilepsy resistant to anticonvulsants, developmental delay, and a complex movement disorder. Hypotonic, ataxic, and dystonic features are most prominent. Speech is often severely affected. Some patients develop spasticity and secondary microcephaly. The phenotype is highly variable ranging from severe impairment to children without seizures. Electroencephalography (EEG) may show 2.5‐4Hz spike‐waves improving on food intake. Neuroimaging is uninformative. Most patients carry heterozygous de novo mutations in the GLUT1 gene (OMIM 138140, gene map locus 1p35‐31.3). Autosomal dominant transmission and several mutational hot spots have been identified, but phenotype‐genotype correlations are not yet apparent. Homozygous GLUT1 mutations presumably are lethal. The ketogenic diet is the treatment of choice as it provides an alternative fuel to the brain. It should be introduced early and maintained into puberty. Seizures are effectively controlled with the onset of ketosis, but might recur and require comedication. The effect on neurodevelopment appears less impressive. The increasing number of patients, molecular and biochemical analysis, recent research into ketogenic diet mechanisms, and the development of animal models for GLUT1DS have brought substantial insights in disease manifestations and mechanisms. This review summarizes data on 84 published cases and highlights recent advances in understanding this entity.
Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions
Authors: Oliveira Guiomar , Ataíde Assunção , Marques Carla , Miguel Teresa S , Coutinho Ana Margarida , Mota‐Vieira Luísa , Gonçalves Esmeralda , Lopes Nazaré Mendes , Rodrigues Vitor , Carmona da Mota Henrique , Vicente Astrid Moura
Published: June 2009

The objective of this study was to estimate the prevalence of autistic spectrum disorder (ASD) and identify its clinical characterization, and medical conditions in a paediatric population in Portugal. A school survey was conducted in elementary schools, targeting 332 808 school‐aged children in the mainland and 10 910 in the Azores islands. Referred children were directly assessed using the Diagnostic and Statistical Manual of Mental Disorders (4th edn), the Autism Diagnostic Interview–Revised, and the Childhood Autism Rating Scale. Clinical history and a laboratory investigation was performed. In parallel, a systematic multi‐source search of children known to have autism was carried out in a restricted region. The global prevalence of ASD per 10 000 was 9.2 in mainland, and 15.6 in the Azores, with intriguing regional differences. A diversity of associated medical conditions was documented in 20%, with an unexpectedly high rate of mitochondrial respiratory chain disorders.
Dyspraxia in autism: association with motor, social, and communicative deficits
Authors: Dziuk M A , Larson J C Gidley , Apostu A , Mahone E M , Denckla M B , Mostofsky S H
Published: June 2009

Impaired performance of skilled gestures, referred to as dyspraxia, is consistently reported in children with autism; however, its neurological basis is not well understood. Basic motor skill deficits are also observed in children with autism and it is unclear whether dyspraxia observed in children with autism can be accounted for by problems with motor skills. Forty‐seven high‐functioning children with an autism spectrum disorder (ASD), autism, or Asperger syndrome (43 males, four females; mean age 10y 7m [SD 1y 10m], mean Full‐scale IQ (FSIQ) 99.4 [SD 15.9]), and 47 typically developing (TD) controls (41 males, six females; mean age 10y 6m [SD 1y 5m], mean FSIQ 113.8 [SD 12.3], age range 8–4y) completed: (1) the Physical and Neurological Assessment of Subtle Signs, an examination of basic motor skills standardized for children, and (2) a praxis examination that included gestures to command, to imitation, and with tool‐use. Hierarchical regression was used to examine the association between basic motor skill performance (i.e. times to complete repetitive limb movements) and praxis performance (total praxis errors). After controlling for age and IQ, basic motor skill was a significant predictor of performance on praxis examination. Nevertheless, the ASD group continued to show significantly poorer praxis than controls after accounting for basic motor skill. Furthermore, praxis performance was a strong predictor of the defining features of autism, measured using the Autism Diagnostic Observation Schedule, and this correlation remained significant after accounting for basic motor skill. Results indicate that dyspraxia in autism cannot be entirely accounted for by impairments in basic motor skills, suggesting the presence of additional contributory factors. Furthermore, praxis in children with autism is strongly correlated with the social, communicative, and behavioral impairments that define the disorder, suggesting that dyspraxia may be a core feature of autism or a marker of the neurological abnormalities underlying the disorder.
Neonatal microstructural development of the internal capsule on diffusion tensor imaging correlates with severity of gait and motor deficits
Authors: Rose Jessica , Mirmiran Majid , Butler Erin E , Lin Cindy Y , Barnes Patrick D , Kermoian Rosanne , Stevenson David K
Published: June 2009

Neonatal microstructural development in the posterior limbs of the internal capsule (PLIC) was assessed using diffusion tensor imaging (DTI) fractional anisotropy (FA) in 24 very‐low‐birthweight preterm infants at 37 weeks' gestational age and compared with the children's gait and motor deficits at 4 years of age. There were 14 participants with normal neonatal FA values (seven females, seven males; born at 27.6 weeks [SD 2.3] gestational age; birthweight 1027g [SD 229]) and 10 participants with low FA values in the PLIC (four females, six males; born at 28.4 weeks [SD 2.0] gestational age; birthweight 1041g [SD 322]). Seven of the 10 children with low FA and none of the children with normal FA had been diagnosed with CP by the time of gait testing. Among children with low neonatal FA, there was a strong negative correlation between FA of the combined left and right side PLIC and log NI (r=–0.89, p=0.001) and between FA and GMFCS (r=–0.65, p=0.04) at 4 years of age. There was no correlation between FA and gait NI or GMFCS at 4 years of age among children with normal neonatal FA. This preliminary study suggests neonatal DTI may be an important predictor of the severity of future gait and motor deficits.
The natural history of gross motor development in children with cerebral palsy aged 1 to 15 years
Authors: Beckung E , Carlsson G , Carlsdotter S , Uvebrant P
Published: June 2009

The aim of this study was to explore motor development in children with cerebral palsy (CP) using developmental curves for CP, subtypes, and the five severity levels of the Gross Motor Function Classification System (GMFCS). The Gross Motor Function Measure (GMFM) and the GMFCS were applied to 317 children (145 females, 172 males) with CP, aged between 1 and 15 years. The CP type distribution was spastic diplegia in 157 (49%), spastic hemiplegia in 101 (33%), spastic tetraplegia in 11 (3%), dyskinesia in 38 (12%), and ataxia in 10 (3%). Forty‐five physiotherapists were trained in the GMFM and intra‐ and interrater reliability was tested. The GMFM was measured prospectively every 6 months up to the age of 4 years and once a year thereafter. Developmental curves were constructed for 258 children with spastic CP. About three‐quarters of the children at GMFCS Level I reached 90% of the maximum GMFM score at 5 years of age. The performance peaked at 7 years of age. Children at GMFCS Level II reached 90% at a median age of 5 years, which was also the upper limit, reached by about three‐quarters at 7 years of age. The majority of children at GMFCS Level III reached 80% of the GMFM by 7 years of age and most of the children at GMFCS Level IV reached 30% at 5 years and remained there. The median score for children at GMFCS Level V was 20%. The intra‐ and interrater reliability for the GMFM 88 among physiotherapists were Spearman's rank correlation coefficient 0.91 and 0.99 respectively. There were 931 measurements with a median of 2 (1–11) per child. The gross motor development was demonstrated for the five GMFCS levels in children with spastic CP. These kind of curves may be useful for monitoring and predicting motor development, for planning treatment, and for evaluating outcome after interventions.
A visual skills inventory for children with neurological impairments
Authors: McCulloch D L , Mackie R T , Dutton G N , Bradnam M S , Day R E , McDaid G J , Phillips S , Napier A , Herbert A M , Saunders K J , Shepherd A J
Published: June 2009

Children with neurological impairments often have visual deficits that are difficult to quantify. We have compared visual skills evaluated by carers with results of a comprehensive visual assessment. Participants were 76 children with mild to profound intellectual and/or motor impairment (33 males, 43 females; age range 7mo–16y; mean age 5y 1mo [SD 4y 2mo]) who completed a visual skills inventory before attending a special vision clinic. The inventory included 16 questions about visual skills and responses to familiar situations. Responses were augmented by taking a structured clinical history, compared with visual evoked potential (VEP) and/or acuity card measures of visual acuity, and examined using exploratory factor analysis. Acuity ranged from normal to no light perception, and was positively associated with responses to individual questions. After excluding four uninformative questions, an association between the remaining questions and two significant independent factors was found. Factor 1 was associated with questions about visual recognition (e.g. ‘Does your child see a small silent toy?’) and these items were correlated with both the VEP and acuity card thresholds. Factor 2 was associated primarily with questions about visually mediated social interactions (e.g. ‘Does he/she return your silent smile?’). Evaluation of visual skills in children with neurological impairment can provide valid information about the quality of children's vision. Questions with the highest validity for predicting vision are identified.
The treatment and management of alternating hemiplegia of childhood
Authors: Neville BGR , Ninan M
Published: June 2009

Alternating hemiplegia of childhood has many factors that make it difficult to manage. These include its rarity of about one case per million, the variability of the manifestations, with seven characteristic features, and the potential for disabilities and acute, often severe, episodes in a disease that is of uncertain cause and for which treatment evidence is sparse. An integrated multidisciplinary team and emergency availability are key medical requirements, as well as an educational setting that understands the variations in performance that occur. The mainstays of treatment have been flunarizine, antiepilepsy drugs for the 50% of patients with epilepsy, attempts to avoid trigger situations, and the rapid encouragement of sleep when attacks begin. The diagnostic and management predicament of child, parent, and paediatrician in complex rare disorders are well illustrated by this condition.
A systematic review of the effects of casting on equinus in children with cerebral palsy: an evidence report of the AACPDM
Authors: Blackmore A M , Boettcher‐Hunt E , Jordan M , Chan M D Y
Published: June 2009

This systematic review examines the effects of casting, either alone or in combination with botulinum toxin type A (BTX‐A), on equinus in children with cerebral palsy (CP). Comparisons are made between casting alone and no treatment, between casting alone and BTX‐A alone, between combined casting and BTX‐A and each treatment by itself, and between casting followed by BTX‐A and BTX‐A followed by casting. A search of PUBMED, CINAHL, Proquest Health and Medical Complete, Cochrane Database of Systematic reviews, Physiotherapy Evidence Database (PEDro), OTseeker, Database of Reviews of Effectiveness (DARE), and Infotrieve yielded 184 citations. Articles were included in the review if they reported the effects of an intervention using casting for equinus in particpants with CP aged 20 or less, if they appeared in a peer‐reviewed scholarly journal in 1970 or later, with no language restriction, and if casting was not used in conjunction with surgery. Twenty‐two articles were selected, including seven randomized controlled trials (RCTs). There is little evidence that casting is superior to no casting, but the protocols of casting in current use have not been compared with no treatment in any RCT. There is no strong and consistent evidence that combining casting and BTX‐A is superior to using either intervention alone, or that either casting or BTX‐A is superior to the other immediately after treatment. Finally, there is no evidence that order of treatment (casting before BTX‐A versus BTX‐A before casting) affects outcome. Much of the evidence both for and against differences is weak, and results may be explained by methodological limitations. Future research needs to use adequate sample sizes, long‐term follow‐ups, and broader and more global measures.
Motor development and sleep, play, and feeding positions in very‐low‐birthweight infants with and without white matter disease
Authors: Fetters Linda , Huang Hsiang‐han
Published: June 2009

We investigated the association of infants' sleep and awake positioning with motor milestone acquisition as measured by the Alberta Infant Motor Scale (AIMS). Participants were 30 very‐low‐birthweight (VLBW) infants with preterm white matter disease (PTWMD; 21 males, nine females; mean birthweight [BW] 1129g [SD 338]; mean gestational age [GA] 28wks [SD 2.44]); 21 VLBW infants without preterm WMD (PT; 13 males, eight females; mean BW 1107g [SD 370]; mean GA 28.05wks [SD 2.21]); and 17 term infants (Term; seven males, 10 females; mean BW 3565g [SD 382]; mean GA 40wks [SD 1.31]). Testing occurred at 1, 5, and 9 months of age (corrected for prematurity). Preferred positions during sleeping, playing, and feeding were obtained through parent interview. These positions and group were the independent variables. Prone sleeping was significantly and positively associated with motor development at all ages (1mo: p=0.005; 5mo: p=0.011; 9mo: p=0.040). At 5 months, prone sleeping and playing were significantly and positively associated with AIMS scores (prone sleeping, p=0.016; prone playing, p=0.047). However, group was negatively associated with preterm white matter disease, with the PTWMD group having significantly lower AIMS scores than the Term group (p=0.029). At 9 months, sitting playing and group membership were significantly associated with AIMS scores (sitting playing, p=0.005; group, p=0.012). Prone positioning should be encouraged for awake time, particularly for infants with preterm white matter disease.
Repeat injection of botulinum toxin A is safe and effective for upper limb movement and function in children with cerebral palsy
Authors: Lowe Kevin , Novak Iona , Cusick Anne
Published: June 2009

The efficacy of repeated botulinum toxin A (BTX‐A) injections in two and three dose regimes, together with occupational therapy, on upper limb movement and function, was studied using an evaluator blinded, randomized, controlled two‐group trial. Forty‐two children (31 males, 11 females; range 2–8y, mean 4y [SD 1y 7mo]) with hemiplegic cerebral palsy (Gross Motor Function Classification System Level I) longitudinally participated for 30 months, with the first 6 months reported earlier (Lowe et al. 2006). The BTX‐A group (n=21) received three injections (0, 6, and 18mo), while the delayed group had two (6 and 18mo; dose 0.5‐2.1 units/kg, mean 1.5 [SD 0.18]; dilution 100 units/0.5ml). At 30 months, no difference existed between groups on any standardized measures. First and second injections showed significant treatment effect sizes, on Quality of Upper Extremity Skills Test (5.5 p=0.01: 4.5 p=0.03); parent Goal Attainment Scaling (GAS; 3.5 p=0.02: 3.9 p=0.01; therapist GAS 7.8 p=0.00: 4.0 p=0.03); Canadian Occupational Performance Measure (performance 0.4 p=0.05: 0.4 p=0.02; satisfaction 0.4 p=0.05: 0.37 p=0.08); and Pediatric Evaluation of Disability Inventory functional skills (1.8 p=0.00: 2.3 p=0.04). BTX‐A was not linked to adverse events, suggesting repeated upper limb injections in children with hemiplegia receiving occupational therapy were safe and effective for improvement of movement and function.
Exploring effects of different treadmill interventions on walking onset and gait patterns in infants with Down syndrome
Authors: Wu Jianhua , Looper Julia , Ulrich Beverly D , Ulrich Dale A , Angulo‐Barroso Rosa M
Published: June 2009

Two cohorts of participants were included to investigate the effects of different treadmill interventions on walking onset and gait patterns in infants with Down syndrome (DS). The first cohort included 30 infants with DS (17 males, 13 females; mean age 10mo [SD 1.9mo]) who were randomly assigned to either a lower‐intensity‐generalized (LG) training group, or a higher‐intensity‐individualized (HI) training group. A control (C) group from another study, who did not receive treadmill training, served as the control (eight males, seven females; mean age 10.4mo [SD 2.2mo]). Mean age at walking onset was 19.2, 21.4, and 23.9 months for the HI, LG, and C groups respectively. At walking onset the HI group was significantly younger than the C group (p=0.011). At the gait follow‐up that was conducted between 1 and 3 months after walking onset, three groups significantly different in overall gait patterns (p=0.037) were examined by six basic gait parameters including average velocity, stride length, step width, stride time, stance time, and dynamic base. Post‐hoc analyses demonstrated that stride length was the gait parameter largely contributing to this overall group difference (p=0.033), and the HI group produced a significantly longer stride length than the C group (p=0.030). In conclusion, the HI treadmill intervention significantly promoted earlier walking onset and elicited more advanced gait patterns (particularly in stride length) in infants with DS.
Early onset alpha‐mannosidosis with slow progression in three Hispanic males
Authors: Lyons Michael J , Wood Tim , Espinoza Lesby , Stensland Hilde Monica Frostad Riise , Holden Kenton R
Published: June 2009

Alpha‐mannosidosis (AMS) is an autosomal recessive lysosomal storage disorder which results from a deficiency of lysosomal alpha‐mannosidosis activity and displays a wide range of clinical phenotypes. Patients have traditionally been divided into type I, a more severe form that presents in infancy, and type II, a milder form that typically presents in later childhood. We describe three Hispanic males who presented in infancy with relatively mild forms of AMS. They were aged between 6 and 24 years at their last assessment. Homozygous mutations in the MAN2B1 gene were found in all three patients, one of which is a newly reported mutation. Two of the patients were brothers who were homozygous for the same MAN2B1 mutation. Despite being homozygous for the same mutation, the older brother had more severe developmental delay, hearing loss, and growth retardation. This report illustrates the difficulty in determining a strict genotype‐phenotype correlation in AMS, and supports screening for oligosaccharides in children with neurodevelopmental delay with mild phenotypic signs and symptoms.
Early relapse risk after a first CNS inflammatory demyelination episode: examining international consensus definitions
Authors: Dale Russell C , Pillai Sekhar C
Published: June 2009

The International Pediatric Multiple Sclerosis Study Group (IPMS) has recently proposed consensus definitions for paediatric multiple sclerosis (MS) and related disorders. The term‘acute disseminated encephalomyelitis’(ADEM) has been used previously to describe any monophasic episode of disseminated demyelination. The study group now propose that ADEM must be multifocal, polysymptomatic, and include encephalopathy (as an essential requirement). An alternative diagnosis for a first acute inflammatory event is‘clinically isolated syndrome’(CIS). A CIS event may be either monofocal (such as isolated optic neuritis) or multifocal, but cannot include encephalopathy. As with adults, children with two or more discrete demyelinating events separated in time and space meet criteria for MS. In children with MS, the demyelination events must not meet ADEM criteria. To test the usefulness of these new criteria, a new cohort of 40 patients (18 males, 22 females; mean age 8y [SD 4y 4mo]) with central nervous system (CNS) demyelination were studied. Using IPMS definitions, the presenting diagnosis was ADEM in 12 patients and CIS in 28 patients. At presentation, patients with CIS were more likely to have intrathecal synthesis of oligoclonal bands and fulfil KIDMUS MS magnetic resonance imaging criteria, compared with patients with ADEM (p<0.025). Patients were followed‐up for a mean of 2 years 2 months. Only one of 12 patients with ADEM went on to develop MS during the study period, whereas 13 of 28 patients with CIS relapsed and fulfilled a diagnosis of MS (p<0.025). The new diagnostic criteria for ADEM may be criticized for being overly restrictive (particularly with encephalopathy being an essential criterion), and it is suspected that many practising physicians will be of the opinion that these new criteria will underdiagnose ADEM, and overdiagnose MS at the expense of multiphasic ADEM. However, it is hoped that these new criteria may improve prognostic specificity and provide uniformity to future paediatric CNS demyelination research.
Feasibility of robotic‐assisted locomotor training in children with central gait impairment
Authors: Meyer‐Heim A , Borggraefe I , Ammann‐Reiffer C , Berweck St , Sennhauser F H , Colombo G , Knecht B , Heinen F
Published: June 2009

Intensive, task‐specific training enabled by a driven gait orthosis (DGO) may be a cost‐effective means of improving walking performance in children. A paediatric DGO has recently been developed. This study was the first paediatric trial aimed to determine the feasibility of robotic‐assisted treadmill training in children with central gait impairment (n=26; 11 females, 15 males; mean age 10y 1mo [SD 4y]; range 5y 2mo‐19y 5mo). Diagnoses of the study group included cerebral palsy (n=19; Gross Motor Function Classification System Levels I–IV), traumatic brain injury (n=1), Guillain‐Barré syndrome (n=2), incomplete paraplegia (n=2), and haemorrhagic shock (n=1), and encephalopathy (n=1). Sixteen children were in‐patients and 10 were outpatients. Twenty‐four of the 26 patients completed the training which consisted of a mean of 19 sessions (SD 2.2; range 13–21) in the in‐patient group and 12 sessions (SD 1.0; range 10–13) in the outpatient group. Gait speed and 6‐Minute Walking Test increased significantly (p<0.01). Functional Ambulation Categories and Standing dimension (in‐patient group p<0.01; outpatient group p<0.05) of the Gross Motor Function Measure improved significantly. DGO training was successfully integrated into the rehabilitation programme and findings suggest an improvement of locomotor performance.
Increased efficacy and decreased systemic‐effects of botulinum toxin A injection after active or passive muscle manipulation
Authors: Minamoto Viviane B , Hulst Jonah B , Lim Michael , Peace William J , Bremner Shannon N , Ward Samuel R , Lieber Richard L
Published: June 2009

The effect of physical manipulation on the outcome of neurotoxin (NT) injection was studied in a rat tibialis anterior (TA) model system where dorsiflexion torque could be measured precisely. After determination of initial torque, all rats received a one‐time botulinum toxin A (BTX‐A) injection (dose 6.0 units/kg in a volume of 100μL) into the TA midbelly. Four experimental groups were studied: one group was subjected to BTX‐A injection alone (BTX‐A only, n=8), one was subjected to BTX‐A injection followed immediately by 10 isometric contractions (ISO; n=9), and the third was subjected to BTX‐A followed immediately by 10 muscle passive stretch/release cycles (PS; n=10). After 1 month, maximum dorsiflexion torque of the injected and contralateral legs was determined followed by quantification of TA fiber area. Post‐injection torque was significantly reduced by around 80% in all NT‐treated extremities 1 month after injection (p<0.05). While all NT‐treated extremities demonstrated a significant torque decrease relative to their pre‐injection levels, ISO and PS groups demonstrated significantly lower torques compared with the BTX‐A only group which received no physical manipulation (p<0.05) indicating greater efficacy. Perhaps even more surprising was that the ISO and PS groups both demonstrated a significantly smaller contralateral effect compared with the BTX‐A only group that received no manipulation (p<0.05) indicating a decreased systemic‐effect. Muscle fiber size generally correlated with dorsiflexion torque. These data demonstrate that both neuromuscular activity (seen in the ISO group) and muscle movement (seen in the PS group) increased the efficacy of BTX‐A and decreased the systemic side effects.
Developmental coordination disorder in children with attention‐deficit–hyperactivity disorder and physical therapy intervention
Authors: Watemberg Nathan , Waiserberg Nilly , Zuk Luba , Lerman‐Sagie Tally
Published: June 2009

Although physical therapy (PT) is effective in improving motor function in children with developmental coordination disorder (DCD), insufficient data are available on the impact of this intervention in children with combined attention‐deficit–hyperactivity disorder (ADHD) and DCD. This prospective study aimed to establish the prevalence of DCD among a cohort of patients with ADHD, characterize the motor impairment, identify additional comorbidities, and determine the role of PT intervention on these patients. DCD was detected in 55.2% of 96 consecutive children with ADHD (81 males, 15 females), mostly among patients with the inattentive type (64.3% compared with 11% of those with the hyperactive/impulsive type, p<0.05). Mean age was 8 years 4 months (SD 2y). Individuals with both ADHD and DCD more often had specific learning disabilities (p=0.05) and expressive language deficits (p=0.03) than children with ADHD only. Twenty‐eight patients with ADHD and DCD randomly received either intensive group PT (group A, mean age 9y 3mo, SD 2y 3mo) or no intervention (group B, mean age 9y 3mo, SD 2y 2mo). PT significantly improved motor performance (assessed by the Movement Assessment Battery for Children; p=0.001). In conclusion, DCD is common in children with ADHD, particularly of the inattentive type. Patients with both ADHD and DCD are more likely to exhibit specific learning disabilities and phonological (pronunciation) deficits. Intensive PT intervention has a marked impact on the motor performance of these children.
Children with severe developmental disabilities and behavioral disorders have increased special healthcare needs
Authors: Kennedy Craig H , Juárez A Pablo , Becker Angela , Greenslade Kathryn , Harvey Mark T , Sullivan Clare , Tally Brenna
Published: June 2009

We studied whether children with severe developmental disabilities (SDDs) who have a comorbid behavioral disorder also have higher rates of special healthcare needs (SHCNs). We used a matched‐comparison control group design to establish whether SHCNs were higher in children with SDDs with behavioral disorders versus children with SDDs without behavioral disorders. Thirty‐six children were matched for age (mean 12y 6mo; range 5y 2mo–18y 8mo), sex (24 males, 12 females), ethnicity (22 non‐white), mental retardation level (22 moderate, eight severe, six profound), and Diagnostic and Statistical Manual of Mental Disorders, 4th edition axis I diagnosis (18 autism spectrum disorder, 10 specified syndrome, eight mental retardation not otherwise specified). Measures included the Achenbach Child Behavior Checklist, behavioral observation, health status examination, and Childhood Health Questionnaire (CHQ). Children with SDDs with behavioral disorders had significantly higher levels of SHCN, as measured by the CHQ and health status examination. Children with SDDs with behavioral disorders had a twofold higher incidence of SHCNs than children with SDDs without behavioral disorders. No difference was observed in the number or types of prescription medication that children received. The findings suggest that SHCNs contribute to the occurrence and/or intensity of behavioral disorders in children with SDD and may require interdisciplinary care coordination.
Measurement of intracranial pressure in children: a critical review of current methods
Authors: Wiegand C , Richards P
Published: June 2009

Assessment of intracranial pressure (ICP) is essential in the management of acute intracranial catastrophe to limit or actively reduce ICP. This article provides background information and reviews the current literature on methods of measuring ICP in children. Indications for ICP measurement are described for children with traumatic brain injury, shunt insertion or malfunction, arachnoid cyst, craniosynostosis, and prematurity. Various methods of ICP monitoring are detailed: non‐invasive, indirect (lumbar puncture, visual‐evoked potentials, fontanelle compression, and optic nerve sheath), and direct assessment (ventricular cannulation, and epidural, subdural, and intraparenchymal devices). Normal levels of ICP will depend on the age and position of the child during monitoring. This article provides clinical and research‐based evidence in this area where there is currently limited guidance.
Further evidence that some male‐based neurodevelopmental disorders are associated with high intrauterine testosterone concentrations
Authors: James William H
Published: June 2009

It has been suggested that reading disability (RD), autism spectrum disorder (ASD), and attention‐deficit–hyperactivity disorder (ADHD) share a measure of genetic overlap. They also share some epidemiological features, and have all been suspected of multifactorial (genetic and environmental) threshold origins. It has also been hypothesized that ASD, pervasive developmental disorder – not otherwise specified, and ADHD are partially caused by high maternal intrauterine testosterone levels. Here I offer a new method of testing this latter hypothesis on some of these disorders (RD, ADHD, and ASD). All these disorders occur more commonly in males. If the intrauterine testosterone hypothesis was correct, then probands should have a statistically significant excess of brothers among their siblings. Data are adduced here to test this. When treated as individual disorders, the data are significant only in the case of RD. However, the data are highly significant when pooled as RD + ADHD or RD + ADHD + ASD. Taken alone, the data on ASD are not significant. These results suggest that: (1) taxonomically, RD and ADHD are moresimilar to one another than either is to ASD; and (2) probands in the pooled samples have a very highly significant excess of brothers. This result stands in need of explanation. Provisionally, the data may be interpreted as suggesting that RD may be caused by high intrauterine testosterone levels, and confirming the hypothesis that ADHD is partially caused by high intrauterine testosterone.
Shaken baby syndrome: the quest for evidence
Authors: Squier Waney
Published: June 2009

Shaken baby syndrome (SBS), characterized by the triad of subdural haemorrhage, retinal haemorrhage, and encephalopathy, was initially based on the hypothesis that shaking causes tearing of bridging veins and bilateral subdural bleeding. It remains controversial. New evidence since SBS was first defined three decades ago needs to be reviewed. Neuropathology shows that most cases do not have traumatic axonal injury, but hypoxic–ischaemic injury and brain swelling. This may allow a lucid interval, which traumatic axonal injury will not. Further, the thin subdural haemorrhages in SBS are unlike the thick unilateral space‐occupying clots of trauma. They may not originate from traumatic rupture of bridging veins but from vessels injured by hypoxia and haemodynamic disturbances, as originally proposed by Cushing in 1905. Biomechanical studies have repeatedly failed to show that shaking alone can generate the triad in the absence of significant neck injury. Impact is needed and, indeed, seems to be the cause of the majority of cases of so‐called SBS. Birth‐related subdural bleeds are much more frequent than previously thought and their potential to cause chronic subdural collections and mimic SBS remains to be established.
Inconsistency between prospectively and retrospectively reported febrile seizures
Authors: Sillanpää M , Camfield P R , Camfield C S , Aromaa M , Helenius H , Rautava P , Hauser W A
Published: June 2009

This study compared the incidence of febrile seizures (FS) reported prospectively up to 5 years of age, with the prevalence of FS by parental recall in the same cohort using the same questionnaire at 12 years of age. Both prospective and retrospective data were available for 807 children (389 males, 418 females). The number of children reported to have experienced FS in the prospective study was 57, and in the retrospective study was 45, yielding a cumulative incidence of 7.1 and 5.6% respectively. In the retrospective study there was an under‐reporting of 19 children, over‐reporting of eight children, and one child misreported by age at onset. Overall sensitivity of the retrospective approach was 65% and specificity was 99%. Positive predictive value was 82% and negative predictive value was 97%. Retrospective data underestimate the frequency of FS with high specificity but low sensitivity. Recall data suggest that some children with FS were not reported in the prospective data. These biases should be considered when evaluating the value of FS as a predictor of future health effects.
Developmental assessment of preterm infants at 2 years: validity of parent reports
Authors: Johnson Samantha , Wolke Dieter , Marlow Neil ,   for the Preterm Infant Parenting Study Group.
Published: June 2009

Parental questionnaires are inexpensive alternatives to standardized testing for outcome measurement. The Parent Report of Children's Abilities has previously been revised (PARCA‐R) and validated for use with very‐preterm infants at 2 years of age. This study revalidated the PARCA‐R for assessing cognition in a larger and more inclusive sample of preterm infants. One hundred and sixty‐four children (82 males, 82 females) of <32 weeks' gestation (median 29wks, interquartile range [IQR] 28‐30wks); and median birthweight 1200g (IQR 925‐1463g) were evaluated using the Mental Development Index (MDI) of the Bayley Scales of Infant Development ‐ 2nd edition (BSID‐II) at 2 years' corrected age. Parents completed the PARCA‐R questionnaire. Significant correlations between PARCA‐R Parent Report Composite (PRC) scores and MDI scores (r=0.77, 95% confidence interval [CI] 0.69‐0.82, p<0.01) demonstrated concurrent validity. A receiver operating characteristic‐determined PRC cut‐off of <44 had optimal discriminatory power (area under curve 0.92) for identifying MDI <70, with 85% sensitivity (95% CI 0.58‐0.96), 87% specificity (95% CI 0.81‐0.92), 98% negative predictive value (95% CI 0.95‐1), and 37% positive predictive value (95% CI 0.22‐0.54). The PARCA‐R has good concurrent validity and diagnostic utility for identifying cognitive delay in very‐preterm infants at 2 years of age. It is useful for outcome measurement, developmental screening, and facilitating parental involvement at folow‐up.
Clinical judgement of near pupil responses provides a useful indicator of focusing ability in children with cerebral palsy
Authors: Saunders Kathryn J , McClelland Julie F , Richardson Patrick M , Stevenson Mike
Published: June 2009

Accommodation is often reduced in cerebral palsy (CP). Knowledge about accommodative facility is valuable when investigating a child's visual needs and developing strategies for education. With normal accommodation, changing focus from distance to near results in pupil constriction. We compared quality of near pupil responses (NPR) with objective measures of accommodative function obtained with dynamic retinoscopy (DR) to investigate the utility of NPR in indicating accommodative facility. NPR and accommodative function of 90 children with CP (56 males, 34 females; median age 11y, range 4‐18y) were assessed. A total of 93% of participants had spastic CP (71.3% bilateral involvement, 28.7% hemiplegia). The severity of motor impairment ranged from very mild (n=7) to severe (no independent walking, n=28). NPR was classified subjectively as normal, reduced, or absent and compared with DR measures of accommodative response. A total of 9.8% of pupil responses were judged absent, 25.6% reduced, and 64.6% normal. Participants with reduced or absent pupil responses demonstrated significantly poorer levels of accommodation with DR (one‐way analysis of variance p<0.01). Sensitivity and specificity of NPR in identifying participants with reduced accommodation were 83% (95% confidence interval [CI] 65.5‐92.4%) and 72% (95% CI 58.4‐82.0%) respectively. NPR provides a rapid, useful indicator of accommodative function in children with CP.
Effect of dynamic orthoses on gait: a retrospective control study in children with hemiplegia
Authors: Van Gestel Leen , Molenaers Guy , Huenaerts Catherine , Seyler Jos , Desloovere Kaat
Published: June 2009

Several positive influences of orthoses on gait in children with cerebral palsy have been documented, as well as some detrimental effects. Most importantly, push‐off is decreased in orthoses, compromising a physiological third ankle rocker. The aim of this study was to evaluate the effect of three types of orthosis on gait in a homogeneous group of children. All orthoses aimed at improving push‐off and normalizing the pathological plantarflexion–knee extension couple. Thirty‐seven children (22 females, 15 males) with hemiplegia, aged 4 to 10 years (30 Gross Motor Function Classification System [GMFCS] Level I, six GMFCS Level II), walked barefoot and with orthoses being either Orteams® (orthoses with the dorsal part containing 11 sleeves), posterior leafsprings (PLS), or Dual Carbon Fibre Spring ankle foot orthosis (AFOs®; CFO: carbon fibre at the dorsal part of the orthosis). All orthoses were expected to prevent plantarflexion and allow dorsiflexion, thus improving first, second, and third rocker. The orthoses were compared through objective gait analysis, including 3D kinematics and kinetics. All orthoses successfully improved the gait pattern and only small differences were noted between the configurations of the different orthoses. The CFO®, however, allowed a more physiological third ankle rocker compared with the Orteam®/PLS. Although the PLS ensured the highest correction at the ankle around initial contact, the CFO® created a significantly higher maximal hip flexion moment in stance. In general, the results of this study indicated a substantial functional flexibility of the CFO®.
Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non‐convulsive status epilepticus?
Authors: Desguerre Isabelle , Marti Ixtasu , Valayannopoulos Vassili , Bahi‐Buisson Nadia , Dulac Olivier , Plouin Perrine , DeLonlay Pascale , Hertz‐Pannier Lucie , Boddaert Nathalie
Published: June 2009

The purpose of this study was to report patients with pharmacoresistant West syndrome of unknown cause whose magnetic resonance imaging (MRI) with diffusion weighted imaging (DWI) showed a transient decrease of diffusion in subcortical structures. Of 20 patients investigated over a 2‐year period, three males and three females constitute the present series. They had daily clusters of infantile spasms with hypsarrhythmia for 4 to 24 months before the first investigation. Four were severely hypotonic. All aetiological studies involving intermediary metabolism, peroxysomes, mitochondria, and neurotransmitters in cerebrospinal fluid were negative. Patients underwent DWI when first examined at the mean age of 13 months, and on follow‐up examination 6 to 18 months later. Diffusion was decreased in the pallidi and posterior brainstem. It was also decreased for five patients in thalami and for three in dentate nuclei. Repeat MRI, performed when spasms were still present but hypsarrhythmia had ceased, did not show the same abnormalities. Because of recruitment bias, this series probably overestimates the true incidence of such DWI abnormalities. The eventuality of toxic lesions, including some inborn error of metabolism or drug toxicity, is considered unlikely although it could not be excluded. The contribution of the epileptic encephalopathy itself appears the most likely course.
Relation between muscle thickness, spasticity, and activity limitations in children and adolescents with cerebral palsy
Authors: Ohata Koji , Tsuboyama Tadao , Haruta Taishi , Ichihashi Noriaki , Kato Takeo , Nakamura Takashi
Published: June 2009

The aim of this study was to investigate the relation between muscle thickness of the quadriceps femoris muscle, knee joint function (spasticity and range of motion), and activity and participation measures in children and adolescents with cerebral palsy (CP). Thirty‐eight children and adolescents with mild to severe CP (20 males, 18 females; mean age 12y 8mo [SD 3y 7mo], range 6‐18y) participated. The severity and type of CP of participants covered all five levels of the Gross Motor Function Classification System and three types: spastic (quadriplegia, hemiplegia, and diplegia), athetotic, and hypotonic. The thickness of the quadriceps femoris muscle (MTQ) was measured from B‐mode ultrasound images. Activity limitations were evaluated by the Gross Motor Function Measurement‐66 (GMFM‐66) and the Pediatric Evaluation of Disability Inventory (PEDI). Spasticity was assessed with the modified Ashworth scale (MAS). After adjustment for age and body mass index, the MTQ showed significant positive correlations with GMFM‐66 and PEDI scores; however, there was no significant correlation with MAS ratings. The degree of knee flexion contracture correlated positively with the MAS rating of the knee flexor muscles and negatively with the MTQ. These results established the clinical relevance of assessment of muscle thickness across a broad spectrum of individuals with CP.