The purpose of this study was to determine whether the Gross Motor Function Measure (GMFM-88) is sensitive to within-child changes in function as a result of children who use an ambulatory aid or orthoses in comparison with unaided or barefoot function. Data from 257 children (140 males, 117 females) with cerebral palsy (CP) were analyzed from a 5-year longitudinal study. The children's age ranged from 2 to 15 years (mean 7y 4mo; SD 2y 11mo), and type of CP, included spastic (n=206 [80.2%]), dyskinetic (n=13 [5.1%]), ataxic (n=9 [3.5%]), hypotonic or mixed (n=27 [10.5%]), and those missing (n=2 [0.8%]), and in motor ability (Gross Motor Function Classification System [:GMFCS] levels I, n=40, II, n=34, III, n=93, IV, n=76, and V, n=14). Paired t-tests between barefoot and aided assessments showed significantly higher GMFM-88 total scores overall (n=257) for aided assessment and for three subgroups (ankle–foot orthoses only, ambulatory aid only, ankle–foot orthoses plus ambulatory aid), providing evidence that the GMFM-88 is sensitive to functional changes as a result of using an aid and/or orthoses. With regard to changes within the orthoses-only group, significant changes varied by GMFCS level. The GMFM-88 might provide a clinically useful tool to help in understanding the impact of ambulatory aids and orthoses on gross motor skills of children with CP.

The timed ‘Up & Go’ test (TUG) is a test of basic or functional mobility in adults which has rarely been used in children. Functional mobility was defined for this study as an individual's ability to manoeuvre his or her body capably and independently to accomplish everyday tasks. Reliability and validity of TUG scores were examined in 176 children without physical disabilities (94 males, 82 females; mean age 5y 9mo [SD 1y 8mo]; range 3 to 9y) and in 41 young people with physical disabilities due to cerebral palsy or spina bifida (20 males, 21 females; mean age 8y 11mo [SD 4y 3mo], range 3 to 19y). Mean TUG score for children without physical disability was 5.9s (SD 1.3). Reliability of the TUG test was high, with intraclass correlation coefficients (ICC) of 0.89 within session, and 0.83 for test–retest reliability. Mean score of the group aged 3 to 5 years was significantly higher (6.7s SD 1.2) than that of the older group (5.1s, SD 0.8; p=0.001). Scores in the younger group reduced significantly over a 5-month follow-up period (p=0.001), indicating that the TUG was responsive to change. Within-session reliability of the TUG in young people with disabilities was very high (ICC=0.99). There were significant differences in TUG scores between children classified at levels I, II, and III of the Gross Motor Function Classification System (p=0.001). TUG scores showed a moderate negative correlation with scores on the Standing and Walking dimensions of the Gross Motor Function Measure (n=22, rho=–0.52, p=0.012). There was no significant difference in TUG scores between typically developing male and female children. The TUG can be used reliably in children as young as 3 years using the protocol described in this paper. It is a meaningful, quick, and practical objective measure of functional mobility. With further investigation, the TUG is potentially useful as a screening test, an outcome measure in intervention studies for young people with disabilities, a measure of disability, and as a measure of change in functional mobility over time.

Eye research in infants who experience significant perinatal complications has been restricted to evaluation of structural ocular disease and spatial vision, and results show that these aspects of vision are at increased risk for abnormal or delayed development. To expand upon previous work, a battery of 17 vision tests was employed to assess, comprehensively, long-term outcome of functional vision. Seventy-six children (38 males, 38 females), between the corrected ages of 2 years 11 months and 10 years 2 months (mean 6y 6mo) with various significant complications (e.g. very preterm birth, bronchopulmonary dysplasia, intraventricular hemorrhage) were compared to normally developing, age-matched control children (n=61; mean age 7y 1mo) on measures of visual acuity, contrast sensitivity, stereoacuity, peripheral vision, color vision, astigmatism, and binocular alignment. Results showed that at-risk children had more test results that fell within the suspect or abnormal range. At-risk children also had a slightly higher incidence of ocular disorders (e.g. strabismus) and refractive error. These data imply that children who experienced significant perinatal risk factors are at risk for long-term deficits of functional vision. However, most of these deficits appear to be relatively mild.

Morphological properties of skeletal muscle were compared between wrist flexors and extensors within the same children (n=8, six females, two males; age range 4 to 9y, median age 7y)with wrist muscle imbalance secondary to spastic cerebral palsy (CP). Five patients had hemiplegic CP, two diplegic CP, and one patient had tetraplegic CP. Muscle biopsies were taken during either tendon transfer or tendon lengthening procedures. Analyses included distribution of muscle fibre types, fibre sizes, and expression of developmental myosins. Extensor fibre area was significantly greater than flexor fibre area for type 2A fibres and type 2B fibres but not for type 1 fibres. Coefficient of variation (CV) of fibre size for all three fibre types was greater for flexors compared with extensors. The greatest CV was observed for the type 2A fibres in flexors (39.5 [3.6%]). A wide variation was observed for expression of developmental myosin with the magnitude of the expression being greater, but not statistically significant, in flexors compared with extensors (5.4/mm2 vs 0.53/mm2). These data demonstrate that significant secondary myopathy of wrist flexor muscles results from CP.

To determine the natural history of developmental dyscalculia (DC) and factors impacting on its prognosis, we performed a prospective six-year longitudinal study. One hundred and forty children of normal intelligence diagnosed with DC in the fifth grade of elementary school were re-examined for dyscalculia three and six years later, in eighth (n=123) and eleventh (n=104; 41 males, 63 females) grades respectively. Mean age of the children in fifth grade was 11 years 1 month (SD 4 months), in eighth grade 14 years 2 months (SD 1 month), and in eleventh grade 17 years 2 months (SD 5 months). The assessment included standardized arithmetic, reading and writing tests, behavioural rating scales, information on socioeconomic status, educational interventions, and familial learning problems. Participants in eleventh grade were recategorized as having DC if their score on the arithmetic test was not more than the fifth centile for grade. At the six-year follow-up, 99/104 (95%) children diagnosed with dyscalculia in fifth grade were still performing poorly in arithmetic, scoring within the lowest quartile for their grade, and 42/104 (40%) were recategorized with DC. Chronicity of DC was associated with severity of the dyscalculia in fifth grade (p<0.05), lower IQ (p<0.01), inattention (p<0.01), and writing problems (p<0.01). Thus, DC is an enduring specific learning difficulty, persisting into late adolescence in almost half of affected individuals.

A minority of cases of autism has been associated with several different organic conditions, including bioenergetic metabolism deficiency. In a population-based study, we screened associated medical conditions in a group of 120 children with autism (current age range 11y 5mo to 14y 4mo, mean age 12y 11mo [SD 9.6mo], male:female ratio 2.9:1). Children were diagnosed using Diagnostic and Statistical Manual of Mental Disorders criteria, the Autism Diagnostic Interview – Revised, and the Childhood Autism Rating Scale; 76% were diagnosed with typical autism and 24% with atypical autism. Cognitive functional level was assessed with the Griffiths scale and the Wechsler Intelligence Scale for Children and was in the normal range in 17%. Epilepsy was present in 19 patients. Plasma lactate levels were measured in 69 patients, and in 14 we found hyperlactacidemia. Five of 11 patients studied were classified with definite mitochondrial respiratory chain disorder, suggesting that this might be one of the most common disorders associated with autism (5 of 69; 7.2%) and warranting further investigation.

The aim of this study was to explore the effect of rater training on interrater reliability, internal consistency, standard error of measurement, and rater familiarity for the Melbourne Assessment of Unilateral Upper Limb Function. Twenty-four participants (raters) were randomly assigned to either ‘trained’ (n=12) or ‘untrained’ (n=12) interventions; they then scored the same nine video recordings of children completing the instrument. The age range of the children was 5 years 5 months to 12 years; there were six males, three females, all with spastic cerebral palsy (five with quadriparesis and four with hemiparesis); Gross Motor Function Classification System levels were I (n=3), II (n=3), III (n=1), and IV (n=2). All participants were novice occupational therapists and had no previous experience of using the instrument. A significant difference in perceived test familiarity was found after scoring but not before: trained raters scored higher. A significant difference in total scores for all cases was found and in eight of 16 individual item total raw scores. Again, trained raters scored higher. Interrater reliability was high in both groups, except item 6 (untrained). Internal consistency was high in both groups, except items 6 and 9 (untrained). We conclude that training for novice users increases familiarity and results in raters' perceiving higher levels of performance in some items. The Melbourne Assessment has high reliability even for novice users.

preschool children diagnosed with either global developmental delay (gdd) or developmental language impairment (dli) were reassessed during their early school years with standardized developmental (battelle developmental inventory [bdi]) and functional (vineland adaptive behavior scale [vabs]) outcome measures. of an original cohort of 99 children with gdd and 70 children with dli assessed and diagnosed at a mean age of 3 years 5 months (sd 1.1) and 3 years 7 months (sd 0.7) respectively, 48 children (34 [71%] males) with gdd and 43 children (36 [84%] males) with dli were reassessed at a mean age of 7 years 4 months (sd 0.9) and 7 years 5 months (sd 0.7) respectively. the overall total mean bdi score for children with gdd was 66.4 (sd 4.3) versus 71.9 (sd 8.2) for children with dli (p=0.002). on each subdomain of the bdi, except communication, mean scores for the gdd group were significantly lower than for the dli group (p<0.05). similarly, the vabs total score for the gdd group was significantly lower than for the dli group (p<0.001). for each subdomain of the vabs, the gdd group scored significantly lower than the dli group (p<0.001). the proportion of children falling below meaningful cut-offs on the outcome measures selected was significantly higher for those initially diagnosed with gdd. preschool diagnosis of either gdd or dli has later prognostic validity with regard to persisting developmental and functional deficits.

This study used meta-analytical techniques to explore the association between intelligence and age in children with Duchenne muscular dystrophy (DMD). The sample comprised 1224 children and young adults with DMD (mean age 12y 3mo, SD 4y; range 2y to 27y). Standardized measures including the Wechsler Intelligence Scales (WIS) and the Stanford-Binet Intelligence Scales were used to estimate intelligence. No age-related difference was noted for Full-scale and Performance intelligence quotients (IQ). However, Verbal IQ increased significantly with age. Age-related increases were noted for the WIS Information, Similarities, Arithmetic, Comprehension, Digit Span, Picture Arrangement, Block Design, and Coding subscales. These results support the notion that younger children with DMD have deficits in verbal reasoning and verbal processing. Older children with DMD, particularly those of 14 years and older, were less likely to present with these problems. Implications of these findings and possible future research directions are discussed.

Muscle strength, neuromuscular activation, and motor-unit firing characteristics (firing rate, recruitment, and short-term synchronization) were assessed during voluntary contractions of the medial gastrocnemius (GAS) and tibialis anterior (TA) muscles of 10 participants with spastic diplegic or hemiplegic cerebral palsy (CP). The participants (six females, four males; age range 6 to 37y) walked with equinus gait at Gross Motor Function Classification System levels II to III. These were compared with 10 age-matched controls (five females; age range 7 to 35y). Neuromuscular activation was estimated by the ratio of surface electromyogram amplitude to M-wave amplitude elicited by supramaximal electrical nerve stimulation. Participants with CP produced significantly less torque (normalized by leg length) compared with controls (TA: mean 2.3, SD 1.6 vs mean 8.9, SD 3.4N m/m; GAS mean 13.7, SD 7.1 vs mean 28.6, SD 5.1Nm/m, p<0.001). Neuromuscular activation during maximum voluntary contraction was significantly reduced in the participants with CP compared with controls (mean 2.4, SD 1.5 vs mean 9.7, SD 2.7Nm/m for TA; mean 1.04, SD 0.41 vs mean 3.1, SD 1.2Nm/m for GAS, p<0.001). When compared at the same submaximal level of neuromuscular activation, motor-unit recruitment and firing rates were not different between the groups, although short-term synchronization in TA was reduced in the participants with CP. These data indicate that weakness, known to be an important component of the motor deficit in CP, has a strong central component. Although the relation between recruitment and firing rate remained substantially intact at the low and moderate force contractions tested, results suggest that the participants with CP were unable to recruit higher threshold motor units or to drive lower threshold motor units to higher firing rates.

Intelligence is reported to decline after onset of moyamoya in Japanese populations, but there is less evidence for this in Western populations where the condition may be secondary to stroke and sickle cell anaemia (SCA). Preoperative longitudinal IQ data were obtained from 15 children (seven males, eight females) who developed moyamoya syndrome (MMS) following a stroke (six with SCA, nine without SCA), and 19 controls (10 males, nine females; nine healthy control participants, 10 with SCA). At baseline assessment (Time 1) median age of patients was 7 years 6 months (range 3y 7mo to 12y 5mo); median age of controls was 6 years 3 months (range 4y to 11y 6mo). At follow-up (Time 2), ages were 11 years 8 months (range 3y 7mo to 12y 5mo) and 12 years 8 months (range 6y 4mo to 16y 8mo) in patients and controls respectively. Median duration of follow-up for the patient group was 3 years (range 7 to 10y) and in controls, 4 years 1 month (range 1 to 10y). In children with SCA, Verbal and Performance IQs (VIQ and PIQ) were significantly lower than in controls at Time 1; there was an additional independent statistically significant reduction in PIQ associated with MMS (p=0.004). Although there were further significant reductions in IQ by the second assessment for patients with MMS compared with controls, IQ did not differ significantly between groups with and without SCA. While the reduction in IQ attributed to SCA does not appear to become more marked with increasing age, the difference between those with and without MMS is associated with increasing effect over time.

The aim of the present research was to investigate the impact of abnormal fetal environment on explicit memory performance. Based on animal models, it was hypothesized that infants of diabetic mothers (IDMs) experience perturbations in memory performance due to exposure to multiple neurologic risk factors including: chronic hypoxia, hyperglycemia/reactive hypoglycemia, and iron deficiency. Memory performance, as measured by the elicited/deferred imitation paradigm, was compared between 13 IDMs (seven females, six males; mean age 365 days, SD 11) and 16 typically developing children (seven females, nine males; mean age 379 days, SD 9). The IDM group was characterized by shorter gestational age (mean 38w, SD 2), greater standardized birthweight scores (mean 3797g, SD 947), and lower iron stores (mean ferritin concentration 87μg/L, SD 68) in comparison with the control group (mean gestational age: 40w, SD 1; mean birthweight: 3639g, SD 348; mean newborn ferritin concentration 140μg/L, SD 46). After statistically controlling for both gestational age and global cognitive abilities, IDMs demonstrated a deficit in the ability to recall multi-step event sequences after a delay was imposed. These findings highlight the importance of the prenatal environment on subsequent mnemonic behavior and suggest a connection between metabolic abnormalities during the prenatal period, development of memory, circuitry, and behavioral mnemonic performance.

This study aimed to investigate whether two distinct motor control processes, i.e. motor planning and parameter setting, were impaired in children with attention-deficit–hyperactivity disorder (ADHD). An experiment was designed in which children copied figures of increasing complexity under increasing accuracy levels on a digitizer. Sixteen children with ADHD (11 males, 5 females; mean age 8y 4mo, SD1y 1mo) and 16 comparison children, without impairment, matched for age and sex participated. ADHD was diagnosed by a psychiatrist following the criteria of the DSM-V. Only children with IQ scores greater than 80 were included. Across all graphic tasks, children with ADHD made slower, inaccurate strokes with relatively high axial pen force compared with the comparison group. No evidence was found for a deficit in motor planning, but parameter setting appeared to be deficient as the ADHD group made less accurate strokes when accuracy demands increased.

Twenty children (11 females; age range 8y 2mo to 14y 7mo, mean 10y 6mo, SD 1y 8mo) with electroclinically typical rolandic epilepsy (RE), were investigated to demonstrate possible occurrence of abnormal oromotor functions and oral sensibility, linguistic problems, and impaired auditory discrimination. Twelve children were treated with an antiepileptic drug (carbamazepine, valproate, or sulthiame). They were compared with an age- and sex-matched control group of 24 children (14 females; age range 8y 2mo to 14y 5mo, mean 11y, SD 1y 8mo). The test battery included tests for facial expressions, lip and tongue movements, repeated syllables, and articulation using nonsense and tongue-twisting words. Sensibility on tongue and lips was tested with two-point discrimination. As language tests, Rapid Confrontation Naming, orthographic, and phonologic decoding tests were used. A dichotic listening test was performed in 13 children with RE and in 14 controls. Compared to control children, those with RE had significantly greater problems concerning tongue movements (p<0.05) and articulation (nonsense words and tongue-twisting words; p<0.01), and worse performance on dichotic listening (p<0.05). Oro-lingual sensibility and results of language tests did not differ between those with RE and control children. The results indicate that children with RE have distinct but mild problems with oromotor performance and auditory discrimination.

The aim of the study was to compare sleep patterns in children with epilepsy with those of their non-epileptic siblings and to determine which epilepsy-specific factors predict greater sleep disturbance. We conducted a case-control study of 55 children with epilepsy (mean age 10y, range 4 to 16y; 27 males, 28 females) and their nearest-aged non-epileptic sibling (mean age 10y, range 4 to 18y; 26 males, 29 females). Epilepsy was idiopathic generalized in eight children (15%), symptomatic generalized in seven (13%), and focal in 40 (73%); the mean duration was 5 years 8 months. Parents or caregivers completed the Sleep Behavior Questionnaire (SBQ) and Child Behavior Checklist (CBCL) for patients and controls, and the Quality of Life in Childhood Epilepsy (QOLCE) for patients. Patients had a higher (more adverse) Total Sleep score (p<0.001) and scored worse than controls on nearly all subscales of the SBQ. In patients, higher Total Sleep scores were correlated with higher scores on the Withdrawn, Somatic complaints, Social problems, and Attention subscales of the CBCL, and significantly lower Total Quality of Life Scores. Refractory epilepsy, mental retardation, and remote symptomatic etiology predicted greater sleep problems in those with epilepsy. We conclude that children with epilepsy in this current study had significantly greater sleep problems than their non-epileptic siblings.

The objective of this study was to determine whether the use of intramuscular botulinum toxin A (BTX-A) increases upper limb function and skills in the context of a specific therapy programme in children with hemiparetic cerebral palsy. Twenty children (nine females, 11 males) aged 4 to 16 years who were thought likely to benefit from BTX-A treatment were included. After matched pairs were made, on the basis of Zancolli grade and age, randomization took place. All patients were given structured rehabilitation (physiotherapy and occupational therapy three times a week for 6 months), and half of the patients received intramuscular BTX-A. No placebo injections were given in the control group. Participants were assessed at baseline, at 2 and 6 weeks, and at 3, 6, and 9 months after injection. The Ashworth scale, active range of motion of arm joints, the Melbourne assessment of upper limb function, the Pediatric Evaluation of Disability Inventory, and the nine-hole peg test were used for outcome measurement. Observers were blinded for treatment allocation only for scoring the Melbourne test. The children in the treatment group showed a clinically relevant increase in active dorsal flexion, and tone reduction of the wrist. For the functional outcome measures, no statistically significant differences between the groups could be demonstrated. Intramuscular BTX-A added to an intensive therapy programme reduces impairment for at least 9 months; the effect on activity level is still uncertain.

Force control ability was investigated in 10 males and 10 females, between 5 and 15 years old with spastic hemiplegia (mild and moderate hand dysfunction), and an aged-matched control group (eight males, 12 females). An isometric force production task at five different levels of maximum voluntary contraction (MVC) was performed. Results showed that MVC generated with the affected hand (AH) was only one-third of that generated by the non-affected hand (NAH; p<0.001), time to peak was almost twofold at the highest force level (p<0.001), and the coefficient of variation was twice as high (p<0.001). Results for the NAH did not differ from those of the control children. Correlations between clinical and experimental variables were significant for the relation between Ashworth score for elbow flexors, MVC and variability at the highest force level. In conclusion, the findings for the AH suggests that strength training should be considered for agonist spastic muscles.

The purpose of this pilot study was to evaluate the effect of treatment with botulinum toxin A (BTX-A) injections on function in children with cerebral palsy (CP) using pedobarometric data collected in a standing position. Ten children with CP (seven males, three females) participated, five with diplegia and five with hemiplegia. All children exhibited signs of unilateral dynamic equinus foot disorder and were community ambulators. Age range at the time of treatment was 6 to 13 years (mean age 9y, SD 2.5). A comprehensive clinical examination and a pedobarometric evaluation were performed before and after BTX-A injection. All children received at least one injection in each spastic muscle. BTX-A was given to eight children unilaterally and to two children bilaterally. A maximum dose of 4 to 8 units of BTX-A per kilogram body weight was administered. In comparison with pretreatment values, the pedobarometric evaluation revealed a significant increase in the whole plantar surface area on the affected side (p<0.05), an increase in the peak pressure value at the hindfoot on the affected side (p<0.05), and a significant shift in the body centre of mass to the affected limb (p<0.05) 1 month after treatment with BTX-A. A significant decrease in the peak pressure value at the hindfoot on the unaffected side was also observed. Similarly, a decrease in the modified Ashworth scale and an increase in the range of motion were observed. Thus, BTX-A produces a significant plantar surface modification and a significant shift of the body centre of mass which represents an indirect measure of postural attitude. Pedobarometric evaluation can also be useful in quantifying clinical changes after treatment with BTX-A.

The purpose of this study was to identify factors associated with health-related quality of life (HRQOL) in individuals with myelomeningocele. Eighteen female and 16 male patients with myelomeningocele (mean age 13y, SD 6y; range 4 to 27y) were prospectively enrolled. Twenty-four of the patients had lesions at or above the L4 level, and 11 were wheelchair dependent. Twenty-five patients had shunted hydrocephalus; mean IQ of the cohort on testing was 85 (SD 18; range 36 to 111). Functional independence was measured in three areas (self-care, mobility, and social cognition) using the Functional Independence Measure for Children (WeeFIM). The Support Function Scale (social supports available to the family), the Amount of Assistance Questionnaire (assistance required for activities of daily living), and the Health Utilities Index II (HUI-II; perceived health status measure) were completed by participants or their parents. Each patient's HRQOL was quantified using a ‘feeling thermometer’, which is a plastic ‘thermometer’ scaled from 0 (least desirable health state) to 100 (perfect health). Results of multiple regression analysis using HRQOL as the dependent variable revealed that the Amount of Assistance Questionnaire, WeeFIM self-care, and HUI-II were significantly correlated with quality of life ratings (p<0.025). Maximizing functional independence should be a priority in improving HRQOL in individuals with myelomeningocele.

Clinical data on Duchenne muscular dystrophy (DMD) are lacking in developing countries. The objective of this study was to delineate the demographic characteristics, investigations, and outcome of 21 Malaysian males diagnosed with DMD over a period of 10 years. Mean age presentation was 3 years 8 months (SD 23mo; range 10 to 84mo), mean duration from first presentation to diagnosis was 3y 7mo (SD 26mo; range 5 to 84) and the mean age for loss of ambulation was 11 years (SD 25mo; range 102 to 168). There was family history of DMD in five of the 21 patients. Muscle biopsy showed confirmatory findings of DMD in the 16 patients tested. Molecular genetic analysis showed dystrophin gene deletions in 11 of these 16 patients. Four and seven of the students stopped schooling and had learning difficulties, respectively; only nine had satisfactory school performances. Eight out of 14 patients evaluated were classified as having severe to total dependency levels on the modified Barthel Index for activities of daily living assessment. DMD is associated with significant medical and social needs for a developing country such as Malaysia. Earlier referral, genetic counselling, and provision of support and rehabilitative services are the main priorities.