bluuebunny/crossref_metadata_2025 huggingface dataset:
High dose botulinum toxin A for the treatment of lower extremity hypertonicity in children with cerebral palsy
Authors: Willis Allison W , Crowner Beth , Brunstrom Janice E , Kissel Abigail , Racette Brad A
Published: June 2009

The aim of this study was to determine the safety profile of high dose (15‐25 units/kg) of botulinum toxin A (BTX‐A) in children with cerebral palsy (CP) and increased lower extremity muscle tone. We performed a retrospective review of 929 patient encounters at the Movement Disorders Center at Washington University. A total of 261 patients (105 females; 156 males) were treated during these visits, ages 6 months to 21 years (mean 8y 4mo [SD 4y 8mo]). Ambulatory ability at the time of BTX‐A injection was independent ambulation (36.4%, n=95), ambulation with a walker (27.6%, n=72), and non‐ambulatory (31.8%, n=83). A few patients (4.2%, n=11) were able to ambulate with a cane or crutch at the time of injection. Participants were characterized according to BTX‐A dose, CP etiology, motor involvement pattern, muscles injected, ambulatory ability, and use of oral tone medications. Follow‐up records were searched for reported adverse events (AEs), with a mean time to AE assessment of 6.5 weeks (SD 3.38). The AE occurrence was determined for doses of 0 to 4.9 units/kg, 5 to 9.9 units/kg, 10 to 14.9 units/kg, 15 to 19.9 units/kg, and 20 to 25 units/kg. The overall AE occurrence was 4.2%. Standard doses of BTX‐A had side‐effect occurrences of 3.9% for 5 to 10 units/kg and 7.6% for 10 to 15 units/kg. Among higher doses (15‐20 units/kg and 20–25 units/kg) the AE occurrence was 3.5% and 8.6% respectively. No patient developed botulism. AEs were randomly distributed across dosing groups, CP etiologies, clinical phenotypes, ambulatory status, and treatment duration. All doses were associated with a significant increase in passive range of motion using the Tardieu scale. We conclude that higher dose BTX‐A is safe in children with a spectrum of CP phenotypes and are well tolerated over time.
Efficacy of a hand–arm bimanual intensive therapy (HABIT) in children with hemiplegic cerebral palsy: a randomized control trial
Authors: Gordon Andrew M , Schneider Jennifer A , Chinnan Ashley , Charles Jeanne R
Published: June 2009

Children with hemiplegic cerebral palsy (CP) have impairments in bimanual coordination above and beyond their unilateral impairments. Recently we developed hand‐arm bimanual intensive therapy (HABIT), using the principles of motor learning, and neuroplasticity, to address these bimanual impairments. A single‐blinded randomized control study of HABIT was performed to examine its efficacy in children with hemiplegic CP with mild to moderate hand involvement. Twenty children (age range 3y 6mo‐15y 6mo) were randomized to either an intervention (n=10: seven males, three females; mean age 8y 7mo, SD 4y) or a delayed treatment control group (n=10: seven males, three females; mean age 6y 10mo, SD 2y 4mo). Children were engaged in play and functional activities that provided structured bimanual practice 6 hours per day for 10 days. Each child was evaluated immediately before and after the intervention, and again at 1‐month post‐intervention. Children in the intervention group demonstrated improved scores on the Assisting Hand Assessment, increased involved extremity use measured using accelerometry and a caregiver survey, bimanual items of the Bruininks–Oseretsky Test of Motor Proficiency, and the simultaneity of completing a draw‐opening task with two hands (p<0.05 in all cases). The results suggest that for this carefully selected subgroup of children with hemiplegic CP, HABIT appears to be efficacious in improving bimanual hand use.
Use of the Bruininks–Oseretsky Test of Motor Proficiency for identifying children with motor impairment
Authors: Venetsanou Fotini , Kambas Antonis , Aggeloussis Nickos , Serbezis Vasilios , Taxildaris Kyriakos
Published: June 2009

This study compared the consistency of the Short Form (SF) and the Long Form (LF) of the Bruininks–Oseretsky Test of Motor Proficiency (BOTMP) in identifying preschool children with motor impairment (MI). One hundred and forty‐four Greek preschool children participated (74 males, 70 females; mean age 5y 2mo [SD 5mo], range 4y 6mo‐5y 6mo). Although total SF and LF scores were highly correlated (r=0.85), paired t‐tests indicated significant differences (t=‐27.466, p=0.001). SF total scores (mean 58.72 [SD 7.28]) were higher than LF total scores (mean 47.38 [SD 9.43]). SF had low sensitivity (13.6%) and negative predictive value (72.5%) for identifying MI. The BOTMP‐SF does not appear to be a valid test for the identification of MI in 5‐year‐old children.
Intranasal trigeminal function in children
Authors: Hummel T , Roudnitzky N , Kempter W , Laing DG
Published: June 2009

The aim of the study was to investigate trigeminal function in children compared with that of adults. Trigeminal sensitivity was assessed using a lateralization task where participants were requested to identify the side of the nose to which an odorous stimulus was presented. The ability to localize the sensation is largely based on trigeminal function. A total of 344 people participated (191 females, 153 males; mean age 12y [SD 7y 9mo], range 5–54y). Eucalyptol (EUC) was administered as a mixed olfactory‐trigeminal stimulant; phenylethyl alcohol (PEA) was used as a control stimulant with minimal trigeminal impact. In addition, sensitivity to vibration was assessed as a somatosensory control. With regard to all age groups, PEA could not be localized whereas this was easily possible for EUC. However, the ability to localize EUC increased with age, which was not the case for PEA. No sex‐related difference was found for odour localization. These results provide data for normal intranasal trigeminal function in children. They also indicate that trigeminal sensitivity is already well‐developed in children.
A review of the effects of sleep position, play position, and equipment use on motor development in infants
Authors: Pin Tamis , Eldridge Beverley , Galea Mary P
Published: June 2009

Since 1992, parents have been urged to place their infants on their back when asleep. The resulting lack of experience in a prone position appears to cause developmental delay in infants. Use of various infant equipment, except baby walkers, has not been examined thoroughly to establish their influence on the motor development of infants. The aim of this systematic review was to evaluate the effects of sleep and play positions, and use of infant equipment, on motor development. Nineteen studies with evidence at level II were selected against the selection criteria and scored against the Physiotherapy Evidence Database scale. Despite the generally poor methodological quality, the studies have consistently shown that there was transient delay in motor development for healthy term and low‐risk preterm infants who were not exposed to the prone position or who did not use infant equipment. However, most of these infants walked unaided within a normal time frame. Limited evidence was found for the effect on more vulnerable infants. More rigorous longitudinal studies using outcome measures focusing on movement quality are recommended to understand any long‐lasting influence on the motor skills in these infants.
Number development and developmental dyscalculia
Authors: Von Aster Michael G , Shalev Ruth S
Published: June 2009

There is a growing consensus that the neuropsychological underpinnings of developmental dyscalculia (DD) are a genetically determined disorder of ‘number sense’, a term denoting the ability to represent and manipulate numerical magnitude nonverbally on an internal number line. However, this spatially‐oriented number line develops during elementary school and requires additional cognitive components including working memory and number symbolization (language). Thus, there may be children with familial‐genetic DD with deficits limited to number sense and others with DD and comorbidities such as language delay, dyslexia, or attention‐deficit‐hyperactivity disorder. This duality is supported by epidemiological data indicating that two‐thirds of children with DD have comorbid conditions while one‐third have pure DD. Clinically, they differ according to their profile of arithmetic difficulties. fMRI studies indicate that parietal areas (important for number functions), and frontal regions (dominant for executive working memory and attention functions), are under‐activated in children with DD. A four‐step developmental model that allows prediction of different pathways for DD is presented. The core‐system representation of numerical magnitude (cardinality; step 1) provides the meaning of ‘number’, a precondition to acquiring linguistic (step 2), and Arabic (step 3) number symbols, while a growing working memory enables neuroplastic development of an expanding mental number line during school years (step 4). Therapeutic and educational interventions can be drawn from this model.
Neurological complications of cardio‐facio‐cutaneous syndrome
Authors: Yoon Grace , Rosenberg Jodine , Blaser Susan , Rauen Katherine A
Published: June 2009

Cardio‐facio‐cutaneous syndrome (CFC) is a multiple congenital anomaly disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, congenital heart defects, and developmental and growth delay. Neurological complications associated with CFC remain to be clearly defined. Recent discovery of causative mutations in genes of the MAPK pathway (BRAF, MEK1, and MEK2) now permit accurate molecular diagnosis of CFC. The aim of the study was to characterize neurological features of participants with molecularly‐confirmed CFC. Medical records, and laboratory and imaging data were reviewed for 39 mutation‐positive individuals with CFC. Participants with a clinical diagnosis of CFC but a negative result on mutation screening of the BRAF, MEK1, and MEK2 genes were excluded from the study. Mean age of participants was 9 years 4 months (range 18mo‐24y); there were 24 females and 15 males. Mutations in B RA F were present in 32 participants, MEK1 in five, and MEK2 in two participants. Hypotonia, motor delay, speech delay, and learning disability were universally present in this cohort. Macrocephaly was present in 13 participants, ptosis in 11, strabismus in 14, and nystagmus in 11 of the 22 participants who underwent a neurological exam. Corticospinal tract findings were present in seven participants. Ventriculomegaly or hydrocephalus was present in 14 of 32 participants who underwent brain imaging. Other findings on magnetic resonance imaging included prominent Virchow‐Robin spaces (n=6), abnormal myelination (n=4), and structural anomalies (n=5). Seizures were present in 15 participants. No specific genotype‐phenotype correlation was observed.
Psychometric characteristics of the Neonatal Oral‐Motor Assessment Scale in healthy preterm infants
Authors: Howe Tsu‐Hsin , Sheu Ching‐Fan , Hsieh Yu‐Wei , Hsieh Ching‐Lin
Published: June 2009

We examined the reliability, validity, and responsiveness of the Neonatal Oral‐Motor Assessment Scale (NOMAS) in healthy preterm infants. Feeding records of 147 infants (71 males, 76 females; gestational age [GA] ≤ 36wks), taken from the day bottle‐feeding was initiated to the day the infants were discharged, were used to examine the psychometric properties of the normal and disorganized categories of the NOMAS. The infants, with or without experience of breastfeeding, were all fed by bottle, with either formula and/or breast milk. GA ranged from 24 to 35.9 weeks (mean 29.7wks, SD 2.7) and birthweight ranged from 470g to 2570g (mean 1251.1g, SD 425.9). Postmenstrual age (PMA) at the starting point of bottle‐feeding ranged from 29.4 to 40.1 weeks (mean 33.8wks, SD 1.7). We found that the NOMAS had satisfactory internal consistency (Cronbach's α >0.70) in the normal category for 32 to 35 weeks’PMA. Moderate correlations were found between scores on the NOMAS and feeding performance for all age groups except for PMA of ≥ 36 weeks (absolute Spearman's rs=0.51‐0.69), indicating acceptable convergent validity. The NOMAS demonstrated moderate responsiveness to changes in oral‐motor skills in every 2‐week period, ranging from 32 to 36 weeks’PMA (standard response mean greater than 0.5). This study demonstrated that the normal and disorganized categories of the NOMAS are useful, with acceptable psychometric properties, in assessing oral‐motor function in preterm infants aged 32 to 35 weeks’PMA. Future research on infants with abnormal oral‐motor skills is needed to further validate psychometric properties of the dysfunction category of the NOMAS.
Encephalopathy with retinitis due to cat‐scratch disease
Authors: Smith R A , Scott B , Beverley D W , Lyon F , Taylor R
Published: June 2009

Cat‐scratch disease is one of several diseases known to be caused by Bartonella species. Some infections due to Bartonella resolve spontaneously without treatment with antibiotics, but in other cases the disease can be fatal without treatment. This case study reports a 7‐year‐old male who presented with an unexplained encephalopathy and unusual retinal findings associated with evidence supporting infection by B. henselae. The 7‐year‐old male presented with a 2‐week history of general malaise and cervical lymphadenopathy progressing onto fever, headache, vomiting, and confusion associated with meningism. Lumbar puncture revealed a raised cerebrospinal fluid protein, low glucose, and raised white cell count. Abnormal retinal findings and raised antibodies titres to B. quintana indicated a diagnosis of cat‐scratch disease. He was treated with azithromycin orally for 3 weeks and made a complete recovery.
Systematic review of hyperbaric oxygen therapy for cerebral palsy: the state of the evidence
Authors: McDonagh Marian S , Morgan Diane , Carson Susan , Russman Barry S
Published: June 2009

A systematic review of the evidence was conducted on the benefits and adverse effects of hyperbaric oxygen treatment (HBOT) for cerebral palsy (CP). Studies of any HBOT regimen in patients with CP were included except for case reports and case series. Electronic databases (e.g. MEDLINE, EMBASE), professional society databases, and reference lists were searched to identify studies. Study quality was assessed using predefined criteria relevant to the study design. Two randomized controlled trials and four observational studies were identified. Best evidence came from a randomized controlled trial which found that HBOT at 1.75 atmospheres (atm) and 1.3atm of room air resulted in similar improvements in motor function (5–6%). Other outcomes also indicated no difference between the HBOT and room air. Observational studies reported improvements in motor function to a similar degree. Other evidence was insufficient to clarify the benefits and/or adverse effects of HBOT for CP. Both HBOT and pressurized room air resulted in improvements in motor function compared with baseline. Similar improvements were seen in the observational studies. Children undergoing HBOT were reported to experience adverse events, including seizures and the need for ear pressure equalization tube placement, but the incidence was unclear. Future research is needed to determine the efficacy of pressurized room air or non‐pressurized oxygen in equivalent amounts by mask, compared with standard treatments.
Central hypothermia as a cause of acute pancreatitis in children with neurodevelopmental impairment
Authors: Hauer Julie M
Published: June 2009

Children with severe neurodevelopmental impairment are at risk for recurrent hypothermia, defined as a temperature of less than 35°C, as a result of hypothalamic dysfunction. Acute pancreatitis following hypothermia from environmental exposure or induced as medical therapy has been reported in adults. In this case series of 10 children (six males, four females) with severe neurodevelopmental impairment and associated hypothermia, five had an episode of acute pancreatitis. These five patients had documented hypothermia, an elevated lipase of greater than 1000U/L, and presenting symptoms of irritability or lethargy along with gastrointestinal symptoms such as feeding intolerance. Four of these five children had no other explanation for pancreatitis; the fifth had multiple gallstones. This case series identifies the risk of acute pancreatitis in children with central hypothermia. Monitoring for resolution upon establishment of euthermia can minimize unnecessary testing and cost.
Practical difficulties in the diagnosis of transient non‐ketotic hyperglycinaemia
Authors: Lang T F , Parr J R , Matthews E E , Gray R G F , Bonham J R , Kay J D S
Published: June 2009

Making a diagnosis of transient non‐ketotic hyperglycinaemia (tNKH) can be difficult. We report an infant who presented in the neonatal period with symptoms of NKH. Metabolic studies performed on day 2 of life showed raised cerebrospinal fluid (CSF) and plasma glycine, and a CSF:plasma glycine ratio consistent with NKH; however, a liver biopsy performed on day 5 revealed normal liver glycine cleavage system activity. Subsequently, the child's clinical condition improved in the absence of any therapeutic medication. Clinical assessment and developmental follow‐up at 5 months, 1 year, and 2 years were age‐appropriate. Guidance for the investigation and management of future suspected cases of tNKH is discussed.
Single‐subject research design: recommendations for levels of evidence and quality rating
Authors: Logan Lynne Romeiser , Hickman Robbin R , Harris Susan R , Heriza Carolyn B
Published: June 2009

The aim of this article is to present a set of evidence levels, accompanied by 14 quality or rigor questions, to foster a critical review of published single‐subject research articles. In developing these guidelines, we reviewed levels of evidence and quality/rigor criteria that are in wide use for group research designs, e.g. randomized controlled trials, such as those developed by the Treatment Outcomes Committee of the American Academy for Cerebral Palsy and Developmental Medicine. We also reviewed methodological articles on how to conduct and critically evaluate single‐subject research designs (SSRDs). We then subjected the quality questions to interrater agreement testing and refined them until acceptable agreement was reached. We recommend that these guidelines be implemented by clinical researchers who plan to conduct single‐subject research or who incorporate SSRD studies into systematic reviews, and by clinicians who aim to practise evidence‐based medicine and who wish to critically review pediatric single‐subject research.
Intrapartum fever and chorioamnionitis as risks for encephalopathy in term newborns: a case–control study
Authors: Blume Heidi K , Li Christopher I , Loch Christian M , Koepsell Thomas D
Published: June 2009

In this study we examined the relationship between diagnoses of isolated intrapartum fever or chorioamnionitis and the risk of encephalopathy in term newborns. We conducted a population‐based, case—control study in Washington State using 1994 to 2002 linked data from the Washington State Birth Registry and the Comprehensive Hospital Abstract Reporting System (CHARS). We identified 1060 singleton, term newborns (602 males, 458 females) with International Classification of Diseases (ICD‐9) diagnoses consistent with encephalopathy, and 5330 unaffected control newborns (2756 males, 2574 females). Intrapartum fever was defined by a diagnosis of intrapartum temperature of >38°C in the birth registry or CHARS databases. Chorioamnionitis was defined using ICD‐9 diagnoses recorded in CHARS. We identified 2.2 cases of encephalopathy per 1000 births. Isolated intrapartum fever was associated with a 3.1‐fold (95% confidence interval [CI] 2.3‐4.2) increased risk of newborn encephalopathy. Chorioamnionitis was associated with a 5.4‐fold (95% CI 3.6‐7.8) increased risk of encephalopathy. We found that isolated intrapartum fever and chorioamnionitis were independently associated with an increased risk of encephalopathy in term infants. Our data also indicate that there is a spectrum of risk for encephalopathy in term infants exposed to intrapartum fever. Infants born to women with signs of chorioamnionitis other than isolated intrapartum fever may be at higher risk of encephalopathy than those exposed only to isolated intrapartum fever.
In vivo gastrocnemius muscle fascicle length in children with and without diplegic cerebral palsy
Authors: Mohagheghi AA , Khan T , Meadows TH , Giannikas K , Baltzopoulos V , Maganaris CN
Published: June 2009

The effect of spastic cerebral palsy on in vivo gastrocnemius muscle fascicle length is not clear. Similarity of fascicle lengths in children with diplegia and typically developing children, but shortening of fascicle lengths in the paretic legs of children with hemiplegia compared with the non‐paretic legs, are both reported. In the former case, comparisons were made between fascicle lengths normalized to leg length, whereas in the latter case, absolute fascicle lengths were compared. The inherent assumptions when normalizing fascicle length (measured via ultrasonography) were not validated, raising the possibility that inappropriate normalization contributed to the controversy. We used statistical methods to control the potential confounding effect of leg length on fascicle length, and tested the feasibility of the normalization method for a group of 18 children with diplegia (nine males, nine females; mean age 8y 7mo [SD 3y 11mo], range 2‐15y; Gross Motor Function Classification System levels II and III) and 50 typically developing children (20 males, 30 females; mean age 9y 1mo [SD 2y 4mo], range 4‐14y). Children with diplegia, as a group, had shorter absolute and normalized fascicle lengths (p<0.05) but we could not refute the appropriateness of the normalization method. Other methodological issues (such as sample characteristics) might have contributed to the apparent controversy between the stdies.
Levetiracetam in juvenile myoclonic epilepsy: long‐term efficacy in newly diagnosed adolescents
Authors: Verrotti Alberto , Cerminara Caterina , Coppola Giangennaro , Franzoni Emilio , Parisi Pasquale , Iannetti Paola , Aloisi Paolo , Tozzi Elisabetta , Cusmai Raffaella , Vigevano Federico , Chiarelli Francesco , Curatolo Paolo
Published: June 2009

The aim of this study was to evaluate the efficacy and tolerability of levetiracetam (LEV) monotherapy in juvenile myoclonic epilepsy (JME). The study group consisted of 32 patients with epilepsy (20 males, 12 females) with a mean age of 13 years 3 months (SD 7y 11mo) at seizure onset. LEV was administered as the first drug; all patients were followed up at 6 and 12 months. The dose that achieved seizure control ranged from 1000 to 2500mg/daily. At 6‐month evaluation: 15 patients were seizure free; 14 patients were responders (>50% reduction in seizures); and three patients had marginal effects (<50% reduction of seizures). At 12‐month evaluation: 29 patients were seizure free; three patients were responders. No patients reported adverse events. These data provide preliminary evidence that LEV may be effective for treating patients with newly diagnosed JME.
Bronchopulmonary dysplasia predicts adverse developmental and clinical outcomes in very‐low‐birthweight infants
Authors: Jeng Suh‐Fang , Hsu Chyong‐Hsin , Tsao Po‐Nien , Chou Hung‐Chieh , Lee Wang‐Tso , Kao Hsin‐An , Hung Han‐Yang , Chang Jui‐Hsing , Chiu Nan‐Chang , Hsieh Wu‐Shiun
Published: June 2009

This study examined the developmental and clinical outcomes in very‐low‐birthweight (VLBW; ≤1500g) infants with and without bronchopulmonary dysplasia (BPD) throughout infancy, and assessed if BPD predicted poor developmental outcome beyond the effects of other risk factors. One hundred and three VLBW infants (53 males, 50 females; mean gestational age 28wks [SD 2] birthweight 1041g [SD 261]) were graded for severity of BPD according to the American National Institutes of Health (NIH) consensus definition. Neuro‐development was assessed using the Neonatal Neurobehavioral Examination‐Chinese version, at 36 and 39 weeks' postmenstrual age, and the 2nd edition of the Bayley Scales of Infant Development at 6 and 12 months' corrected age. Clinical outcome was measured by means of rehospitalization for pulmonary causes and treatment with pulmonary medications. Compared with infants without BPD, infants with BPD had higher rates of clinical morbidity, and those with severe BPD further exhibited higher incidences of developmental delay throughout infancy. BPD predicts poor 1‐year developmental and clinical outcomes in VLBW infants for which effects are well correlated to the NIH consensus definition.
Sjögren–Larsson syndrome: motor performance and everyday functioning in 17 patients
Authors: Verhoog Judith , Fuijkschot Joris , Willemsen Michèl , Ketelaar Marjolijn , Rotteveel Jan , Gorter Jan Willem
Published: June 2009

Sjögren–Larsson syndrome (SLS) is an autosomal recessive neurometabolic disorder characterized by spasticity, learning disability, and ichthyosis. To our knowledge, there is no detailed report in the literature concerning the functional consequences of SLS. Therefore, we performed a cross‐sectional study of motor performance and everyday functioning in 17 patients with this rare disorder. Nine female and eight male patients with SLS (age range 1‐35y) were investigated. Data were obtained by structured interview with parents and patients with SLS, a telephone‐conducted questionnaire, and physical examination. Motor performance was measured by the Gross Motor Function Measure; everyday functioning was assessed using the Pediatric Evaluation of Disability Inventory and the Vineland Adaptive Behavior Scale. In most patients, spasticity was bilaterally present in hamstrings, hip adductors, and gastrocnemic muscles. All participants above 7 years had contractures in the lower extremities. Limitations were present in all gross motor dimensions, except for lying and rolling. Participants had developmental ages far below their chronological age. This study revealed that patients with SLS have limitations in gross motor performance. Although some patients can reach a certain level of independence, most have activity limitations and restrictions in their participation in society.
Motor skill performance of school‐age children with visual impairments
Authors: Houwen S , Visscher C , Lemmink K A P M , Hartman E
Published: June 2009

The aim of this study was to examine the performance of children with visual impairments (VI) aged 7 to 10 years on different types of motor skills. Furthermore, the association between the degree of the VI and motor performance was examined. The motor performance of 48 children with VI (32 males, 16 females; mean age 8y 10mo [SD 1y 1mo]) was assessed using the Movement Assessment Battery for Children (MABC). Their performance was compared with 48 children without VI (33 males, 15 females; mean age 8y 9mo [SD 1y 1mo]). Children with VI showed the poorest performance compared with peers without VI on unimanual speed, eye‐hand coordination, catching, static balance, and dynamic balance while moving slowly. There was no significant difference between children with moderate and severe VI, except for bimanual coordination in 7‐ to 8‐year‐olds and eye‐hand coordination in both the 7‐ to 8‐year‐olds and 9‐ to 10‐year‐olds, favouring the children with moderate VI. The poor performance compared with children without VI is related to vision, but the degree of the VI does not appear to relate to motor performance, except when associated with bimanual and eye‐hand coordination. For children with VI, it seems very important to adjust the environmental context and task to enhance motor performance.
Finding new etiologies of mental retardation and hypotonia: X marks the spot
Authors: Rogers R Curtis , Stevenson Roger E , Simensen Richard J , Holden Kenton R , Schwartz Charles E
Published: June 2009

Mental retardation (MR) and hypotonia occur together frequently and have a heterogeneous etiology. Molecular and clinical studies have led to the recent discovery of genes on the X chromosome that may be associated with syndromal forms of X‐linked MR (XLMR). These disorders manifest additional neurological and somatic features that are helpful in establishing a specific diagnosis and etiology. This article provides an overview of MR and its association with hypotonia, with a review of five ‘new’ XLMR‐hypotonia syndromes.
Observer reliability of the Gross Motor Performance Measure and the Quality of Upper Extremity Skills Test, based on video recordings
Authors: Sorsdahl Anne Brit , Moe‐Nilssen Rolf , Strand Liv Inger
Published: June 2009

The aim of this study was to examine observer reliability of the Gross Motor Performance Measure (GMPM) and the Quality of Upper Extremity Skills Test (QUEST) based on video clips. The tests were administered to 26 children with cerebral palsy (CP; 14 males, 12 females; range 2–13y, mean 7y 6mo), 24 with spastic CP, and two with dyskinesia. Respectively, five, six, five, four, and six children were classified in Gross Motor Function Classification System Levels I to V; and four, nine, five, five, and three children were classified in Manual Ability Classification System levels I to V. The children's performances were recorded and edited. Two experienced paediatric physical therapists assessed the children from watching the video clips. Intraobserver and interobserver reliability values of the total scores were mostly high, intraclass correlation coefficient (ICC)1,1 varying from 0.69 to 0.97 with only one coefficient below 0.89. The ICCs of subscores varied from 0.36 to 0.95, finding‘Alignment’and‘Weight shift’in GMPM and‘Protective extension’in QUEST highly reliable. The subscores‘Dissociated movements’in GMPM and QUEST, and‘Grasp’in QUEST were the least reliable, and recommendations are made to increase reliability of these subscores. Video scoring was time consuming, but was found to offer many advantages; the possibility to review performance, to use special trained observers for scoring and less demanding assessment for the children.
Behaviour after cerebral lesions in children and adults (1962)
Authors: Bishop Dorothy
Published: June 2009

It is generally believed that brain injuries vary in their effects according to the age at which they are sustained, but the nature and extent of these differences remain elusive. A full enquiry requires, ideally, the study of strictly comparable lesions in the young and the old, the opportunity for follow‐up examinations extending over decades in both groups and, lastly, the availability of behavioural tasks for which normal attainment is known, and which are equally applicable to the brain‐injured child and the brain‐injured adult.

The investigations of behavioural changes after brain injury in children and adults, reported here, are far from fulfilling all these requirements. In particular, these studies are obviously deficient with regard to our first postulate, that of comparable lesions. Identical lesions in children and adults are so rare that one is often forced to turn to animal experiments as a supplementary source of information. Admittedly, animal experiments introduce phylogenetic differences in addition to the ontogenetic ones; yet available animal studies can help to indicate some of the directions in which the answers to the ontogenetic question may be sought. Accordingly, we begin this account with a brief consideration of animal experiments, before presenting some of the results obtained in our laboratory in students of brain‐injured about and children.
Position as a cause of deformity in children with cerebral palsy (1976)
Authors: Scrutton David
Published: June 2009

Deformities in the child with cerebral palsy have been ascribed to muscle imbalance (Sharrard 1961) and increased tone (Pollock 1959) or to the type of cerebral palsy (Bobath and Bobath 1975). As far as we know, the position in which the child is nursed, especially during the first year of life, has not been considered as a cause of deformity.

It is generally agreed that position in the postnatal period can be a cause of deformity in the normal baby. Paine (1961) suggested that plagiocephaly was caused by postnatal head posture, and Hay (1971) found that plagiocephaly was present in 10 percent of normal babies. Scott (1956) reported that infants commonly had lateral curvatures of the spine which could be seen on x‐rays but not on clinical examination, all of which had resolved by the age of two years. Other asymmetries associated with plagiocephaly are unilateral fisting, asymmetrical groin creases, apparent shortening of one lower limb and asymmetry of gait (Robson 1968). We accept the asymmetrical deformities of plagiocephaly, unilateral bat ear, facial and thoracic asymmetry, pelvic obliquity and apparent shortening of one leg ‐ some or all of which may be present in normal babies ‐ as forming the ‘squint’ baby syndrome. Because asymmetrical deformities also occur in children with cerebral palsy, we thought it worthwhile to compare the pattern of deformity in a group of ‘quint’ but otherwise normal babies with a group of cerebralpalsied children with asymmetrical deformities to see if there is any relationship.
A systematic review of measures of activity limitation for children with cerebral palsy
Authors: Harvey Adrienne , Robin Jonathan , Morris Meg E , Graham H Kerr , Baker Richard
Published: June 2009

This systematic review critically appraises the literature on the psychometric properties and clinical utility of evaluative activity limitation outcome measures used for children with cerebral palsy (CP). The search strategy yielded 29 articles for eight outcome measures that met the inclusion criteria for the review. The Gross Motor Function Measure and Activities Scale for Kids were found to have sound psychometric properties in most areas. Reliability was found to be adequate for all tools. For the CP population, further examination of some aspects of validity is required for the Child Health Questionnaire (CHQ), Functional Assessment Questionnaire (FAQ), Functional Mobility Scale (FMS), Pediatric Evaluation of Disability Inventory, Pediatric Outcomes Data Collection Instrument (PODCI), and the Functional Independence Measure for Children. The FAQ, CHQ, FMS, and PODCI were found to require further examination for responsiveness. Clinical utility of the measures varied. The FMS was the only one to differentiate between function in the home, school, and community and to consider different assistive devices. These findings suggest that a range of measures is required to evaluate activity, and assessment should be tailored to the individual needs of children with CP.
Energy efficiency in gait, activity, participation, and health status in children with cerebral palsy
Authors: Kerr Claire , Parkes Jackie , Stevenson Mike , Cosgrove Aidan P , McDowell Brona C
Published: June 2009

The aim of the study was to establish if a relationship exists between the energy efficiency of gait, and measures of activity limitation, participation restriction, and health status in a representative sample of children with cerebral palsy (CP). Secondary aims were to investigate potential differences between clinical subtypes and gross motor classification, and to explore other relationships between the measures under investigation. A longitudinal study of a representative sample of 184 children with ambulant CP was conducted (112 males, 72 females; 94 had unilateral spastic C P, 84 had bilateral spastic C P, and six had non‐spastic forms; age range 4‐17y; Gross Motor Function Classification System Level I,n=57; Level II,n=91; Level III,n=22; and Level IV,n=14); energy efficiency (oxygen cost) during gait, activity limitation, participation restriction, and health status were recorded. Energy efficiency during gait was shown to correlate significantly with activity limitations; no relationship between energy efficiency during gait was found with either participation restriction or health status. With the exception of psychosocial health, all other measures showed significant differences by clinical subtype and gross motor classification. The energy efficiency of walking is not reflective of participation restriction or health status. Thus, therapies leading to improved energy efficiency may not necessarily lead to improved participation or general health.
The relationship between quality of life and functioning for children with cerebral palsy
Authors: Shelly A , Davis E , Waters E , Mackinnon A , Reddihough D , Boyd R , Reid S , Graham H K
Published: June 2009

Given that quality of life (QOL) is commonly confused with functioning, the aim of this study was to examine the association between functioning and QOL domains for children with cerebral palsy (CP). Two hundred and five parents of children aged 4 to 12 years with CP and 53 children aged 9 to 12 years with CP, completed the Cerebral Palsy Quality of Life Questionnaire for Children. Children were distributed reasonably evenly between sex (male, 54.6%) and Gross Motor Function Classification System levels (I 17.8%, II 28.3%, III 14.1%, IV 11.2%, and V 27.3%). For parent proxy‐report, all domains of QOL were significantly associated with functioning level except access to services. For child self‐report, feelings about functioning, participation and physical health, and pain and feelings about disability, were significantly associated with functioning level. Physical type domains of QOL accounted for more of the variance in functioning than psychosocial type domains. Children with CP have the potential to report a high psychosocial QOL score even if they have poor functioning.
Comorbidities and clinical determinants of outcome in children with spastic quadriplegic cerebral palsy
Authors: Venkateswaran Sunita , Shevell Michael I
Published: June 2009

The objective of this study was to determine the major comorbidities in patients with spastic quadriplegic (SQ) cerebral palsy (CP) and their possible clinical associations. Medical records of patients with SQ CP from a pediatric neurology practice over a 14‐year period were retrospectively and systematically reviewed. Variables examined included demographics, prenatal, perinatal, and postnatal risk factors. Comorbidities documented included those involving hearing, vision, feeding status, and epilepsy. Binomial logistic regression analyses were applied to identify clinical associations of the comorbidities. Ninety‐two children were included in this study of whom 39 were born preterm. Mean age of presentation was 2 months (SD 3.5) and males comprised 60% of the group. A total of 57% had a Gross Motor Function Classification Score (GMFCS) of Level IV or V. The four documented comorbidities occurred at a high frequency: 66 out of 83 children (80%) had a visual impairment with 13 (21%) having a substantial impairment; 37 out of 86 children (40%) had a hearing deficit; 43 out of 92 children (47%) had epilepsy; and 29 (33%) required assisted feeding. A GMFCS Level of IV or V and documented microcephaly was associated with the need for assisted feeding (odds ratio [OR] 8.1; 95% confidence interval [CI] 2.1‐29.8, p=0.002 and OR 4.9, 95% CI 1.7‐14.8, p=0.004 respectively). Epilepsy was associated with the occurrence of neonatal encephalopathy (OR 2.3, 95% CI 1.0‐55; p=0.05), microcephaly (OR 4.9, 95% CI 1.6‐14.8; p=0.004), periventricular leukomalacia (OR 7.4, 95% CI 1.6‐35.0; p=0.012), and perinatal asphyxia (OR 3.6, 95% CI 1.5‐8.9; p=0.005). There is a high frequency of comorbidity in the setting of SQ CP which can impact on quality of life and burdens of care. Few clinical associations of this burden appear, thus necessitating systematic programmatic follow‐up of these children to facilitate early identification and intervention.
Children with developmental language delay at 24 months of age: results of a diagnostic work‐up
Authors: Buschmann Anke , Jooss Bettina , Rupp André , Dockter Sonja , Blaschtikowitz Heike , Heggen Iris , Pietz Joachim
Published: June 2009

The aim of this study was to evaluate if a diagnostic work‐up should be recommended for 2‐year‐old children with developmental language delay (LD), or if the widely chosen ‘wait and see’ strategy is adequate. Children with LD were identified in paediatric practices during routine developmental check‐ups using a German parent‐report screening questionnaire (adapted from the MacArthur Communicative Development Inventories). A standardized German instrument and the Netherlands version of Bayley Scales of Infant Development (2nd edn) were used to assess language ability and nonverbal cognitive development respectively in 100 children with LD (65 males, 35 females; mean age 24.7mo [SD 0.9]) and a control group of 53 children with normal language development (33 males, 20 females; mean age 24.6mo [SD 0.8]). Neurological and audiometric testing were also performed. Sixty‐one per cent of the LD group had specific expressive LD and 17% specific receptive‐expressive LD. In 22%, LD was associated with other neurodevelopmental problems, 6% showed significant deficits in nonverbal cognitive abilities, and in 12%, nonverbal cognitive abilities were borderline. Four per cent fulfilled the criteria of childhood autism. LD at 2 years proved to represent a sensitive marker for different developmental problems. Adequate early intervention requires a clear distinction between specific expressive or receptive‐expressive LD and LD associated with other neurodevelopmental problems. Though catch‐up development is to be expected in a substantial proportion of ‘late talkers’, our data demonstrate that a general ‘wait and see’ approach is not justified in young children with LD. A proposal for a rational diagnostic work‐up is presented.
Academic performance in children with rolandic epilepsy
Authors: Piccinelli P , Borgatti R , Aldini A , Bindelli D , Ferri M , Perna S , Pitillo G , Termine C , Zambonin F , Balottin U
Published: June 2009

The aim of this study was to investigate the frequency of reading, writing, and calculation disabilities in children with typical rolandic epilepsy (RE) and healthy control children. We also aimed to define the possible electroclinical markers of specific cognitive dysfunctions in RE. School abilities were evaluated and compared in 20 children (eight males, 12 females; mean age 10y 3mo [SD 1y 7mo]; range 7y 9mo‐12y 9mo) consecutively diagnosed with typical RE, and a group of 21 healthy controls (nine males, 12 females; mean age 10y 4mo [SD 1y 8mo]; range 7y 6mo‐13y 3mo). All the children received standardized neuropsychological tests. For each patient an exhaustive seizure diary was kept and all the sleep electroencephalogram (EEG) recordings were reviewed. Specific difficulties with reading, writing, and calculation (diagnosed according to the criteria of the Diagnostic and Statistical Manual of Mental Disorders, 4th edition) were found in nine out of 20 children with RE and two out of 21 healthy controls (χ2=0.01). The specific learning disabilities in the RE group were correlated with a marked increase in epileptiform discharges during sleep (χ2=0.02) and an early onset of epilepsy (χ2=0.02). Our findings suggest that seizure onset before age 8 years and epileptiform discharges (more than 50% of the sleep EEG recording) in several tracings over more than a year are relevant markers for identifying patients at risk of developing academic difficulties.
Cognitive profile in young Icelandic children with cerebral palsy
Authors: Sigurdardottir Solveig , Eiriksdottir Audur , Gunnarsdottir Eva , Meintema Marrit , Arnadottir Unnur , Vik Torstein
Published: June 2009

We describe the cognitive profile in a complete national cohort of children with cerebral palsy (CP). One hundred and twenty‐seven Icelandic children (67 females, 60 males) with CP, born between 1985 and 2000 and assessed between the ages of 4 and 6 years 6 months (mean age 5y 5mo, SD 6mo), were included in the study. IQ was measured using the Wechsler Preschool and Primary Scale of Intelligence (WPPSI) and developmental quotient (DQ) was obtained using various developmental scales. Physiological classification of CP in the children was: spasticity, n=104 (82%); dyskinesia, n=14 (11%); ataxia, n=six (4.7%), and unclassified CP, n=3 (2.3%). Spastic diplegia was the most prevalent subtype (35%) followed by hemiplegia and quadriplegia. Forty‐five per cent of the group were at Level I of the Gross Motor Function Classification System, 32% were at Levels II and III, and 23% were at Levels IV and V. Sixty per cent of the children had an IQ or DQ >70. Median scores on the WPPSI were Full‐scale IQ 84, Verbal IQ (VIQ) 92, and Perf o rmance IQ (PIQ) 77. Children with spastic diplegia and quadriplegia had a significantly lower PIQ than VIQ. Of the children who failed to complete the WPPSI, 20% had DQ >85. Thus, cognitive skills can be masked by limitations of movement and motor control in children with CP.
Prevalence, type, distribution, and severity of cerebral palsy in relation to gestational age: a meta‐analytic review
Authors: Himpens E , Van den Broeck C , Oostra A , Calders P , Vanhaesebrouck P
Published: June 2009

The aim of this review is to determine the relationship between gestational age (GA) and prevalence, type, distribution, and severity of cerebral palsy (CP). Epidemiological studies with cohorts expressed by GA were assessed. A comprehensive meta‐analysis and meta‐regression was performed on four fetal age categories. Studies of children with CP as a target population were added. Twenty‐six articles met the inclusion criteria. The prevalence of CP decreases significantly with increasing GA category: 14.6% at 22 to 27 weeks' gestation, 6.2% at 28 to 31 weeks, 0.7% at 32 to 36 weeks, and 0.1% in term infants. Interestingly, a significant decrease in prevalence of CP starts only from a GA of 27 weeks onwards. In preterm infants, spastic CP is predominant. In term infants, the non‐spastic form of CP is more prevalent than in preterm infants. Bilateral spastic CP is most prevalent in both preterm and term infants. However, the proportion of unilateral spastic CP in term infants is substantial. No relationship could be detected between severity of CP and GA. There is a strong need for an international, well‐described, and generally accepted classification system for subtypes and severity of CP.
Response switching process in children with attention‐deficit–hyperactivity disorder on the novel continuous performance test
Authors: Inoue Yuki , Inagaki Masumi , Gunji Atsuko , Furushima Wakana , Kaga Makiko
Published: June 2009

We examined the effects of previous trials on subsequent trials on performance in the continuous performance test (CPT) in children with attention‐deficit–hyperactivity disorder (ADHD). Thirty‐five non‐medicated children with ADHD (31 males, four females; mean age 9y 10mo [SD 2y 4mo]) and 33 comparison children (20 males, 13 females; mean age 10y [SD 2y 7mo]) were tested using a novel CPT, in which stimuli were presented with 50% target probability. Reaction time, reaction time variability, omission, and commission error rate were analyzed for two different types of trials in which different responses (switched trials) or the same responses (repeated trials) were required for two consecutive trials. Compared with the comparison group, children with ADHD showed a greater increase in commission error rate from repeated to switched trials, i.e. increased switch cost for commission error rate. On the other hand, omission error rate was not influenced by the previous trial in both ADHD and comparison groups. These results suggest that children with ADHD have trouble in response switching when an inhibitory process is involved.