This study explored the effects of a flexible supramalleolar orthosis (SMO), indicated to decrease pronation associated with hypotonia, on postural stability in children with Down syndrome. Seventeen children with Down syndrome (nine males, eight females; mean age 5 years 10 months, SD 17.2 months; range 3 years 6 months to 8 years) were tested three times in a 10-week period (weeks 1, 3, and 10) using the Standing and the Walking, Running, and Jumping dimensions of the Gross Motor Function Measure (GMFM), and the Balance subtest of the Bruininks-Oseretsky Test of Motor Proficiency (BOTMP). Range of motion measurements were used to explore the influence of joint laxity. Significant improvement was found with SMOs compared with shoes only in the Standing dimension (p=0.001) and the Walking, Running, and Jumping dimension (p=0.0001) of the GMFM, both at the time of fitting (week 3) and after 7 weeks of wearing SMOs (week 10). For the BOTMP Balance subtest, significant improvement (p=0.027) was seen only at the end of the 7-week study period. Amount of joint laxity did not influence response to orthotic intervention. This study showed that young children with Down syndrome showed immediate and longer-term (after 7 weeks of use) improvement in postural stability with the use of flexible SMOs.

In a previous study we developed a cognitive assessment battery called the Pediatric Powered Wheelchair Screening Test (PPWST) to help clinicians determine a young child's readiness to drive a powered wheelchair. The current multicenter study sought to determine: (1) whether the PPWST is appropriate for use in a population of children with cerebral palsy (CP) who use joysticks to drive their wheelchair; (2) whether two additional factors (symbolic representation and coping) would increase the predictive power of the PPWST for this group and for children with orthopedic or neuromuscular disabilities only; and (3) whether the test was appropriate for children with severe motor impairments who use switches to control their wheelchair. Fifty children (27 males, 23 females) between the ages of 21 months and 6 years 11 months participated. Twenty-six children (mean age 4 years 4 months, SD 15 months) had triplegic or tetraplegic CP and 24 children (mean age 27 months, SD 5 months) had orthopedic or neuromuscular disabilities. Sixty-nine per cent of children had some limited form of mobility (such as rolling or scooting) but none was a functional ambulator. Each child was assessed with the PPWST and with measures of symbolic representation and coping. After six wheelchair training sessions, driving ability was scored. The PPWST was found to be predictive of functional driving ability for children with CP who used a joystick to control their wheelchair. Assessment of symbolic representation skills increased the predictive power for this group but not for children with orthopedic or neuromuscular disabilities; coping scores did not increase the predictive power for either group. The PPWST accounted for only 20% of the variance in overall driving skills for switch users, and thus is not yet considered an adequate screening device for this group. The PPWST is designed to help clinicians determine whether a child currently has the specific cognitive skills found to be related to powered wheelchair driving but is not intended to be used exclusively to determine whether or not a child is ultimately a candidate for powered mobility.

Three planes are discerned during ultrasonographic screening of the insula in parasagittal view: opercular, insular, and fissural. Six newborn infants with normal brain anatomy, including two each of 28, 34, and 40 weeks' gestation, were selected for a description of the evolution of these parasagittal planes. Opercularization of the insula begins to be detected on a sonogram at about the 24th gestational week and progresses cranially. On coronal section the insular space forms a shallow groove at 24 weeks, becoming a slit at 28 weeks that grows longer and develops branches after 32 weeks. At 28 weeks the ascending anterior branch of the circular groove and the lateral fissure at the bottom of the insula are clearly seen in parasagittal section. Subsequent change consists of undulation and bifurcation of the lateral fissure, together with elongation of the anterior margin. Secondary gyri become visible in the insular dome between 28 and 34 weeks, forming short anterior and long posterior insular gyri. Five term newborn infants with perisylvian polymicrogyria were observed with both neonatal ultrasound and magnetic resonance imaging: two of unknown cause, and one each due to cytomegalovirus, bifunctional peroxisomal protein deficiency, and monozygous twinning. With polymicrogyria, on parasagittal sonographic examination at fissural level the anterior margin of the circular groove is a short rudiment. In insular view, only rudimentary sulci ascend from the lateral fissure; short and long gyri are not seen. In opercular view, no secondary branches are seen from the lateral fissure, an image akin to that seen at 28 weeks. A complete insular triangle is not recognized in any of these sections. A deep abnormal sulcus may prolong the lateral fissure when schizencephaly is associated with polymicrogyria. The insula in glutaric aciduria type II has no secondary gyri at term and is reduced to a simple and small triangle. Not all instances of polymicrogyria lead to macroscopically recognizable alteration of insular gyri.

Efforts to examine the structural neuroanatomy of autism by using traditional methods of imaging analysis have led to variable findings, often based on methodological differences in image acquisition and analysis. A voxel-based computational method of whole-brain anatomy allows examination of small patterns of tissue differences between groups. High-resolution structural magnetic resonance images were acquired for nine males with high-functioning autism (HFA; mean age 14y [SD3y 4mo]), 11 with Asperger syndrome (ASP; mean age 13y 6mo [SD2y 5mo]), and 13 comparison (COM) participants (mean age 13y 7mo [SD3y 1mo]). Using statistical parametric mapping, we examined contrasts of gray matter differences between the groups. Males with HFA and ASP had a pattern of decreased gray matter density in the ventromedial regions of the temporal cortex in comparison with males from an age-matched comparison group. Examining contrasts revealed that the COM group had increased gray matter density compared with the ASP or combined HFA and ASP group in the right inferior temporal gyrus, entorhinal cortex, and rostral fusiform gyrus. The ASP group had less gray matter density in the body of the cingulate gyrus in comparison with either the COM or HFA group. The findings of decreased gray matter density in ventromedial aspects of the temporal cortex in individuals with HFA and ASP lends support to theories suggesting an involvement of these areas in the pathophysiology of autism, particularly in the integration of visual stimuli and affective information.

This study's aims were to determine: (1) prevalence of periodic leg movements (PLMs) in walking prepubertal children consulting a sleep clinic for any sleep disorder; (2) associations between PLMs and other sleep and medical disorders; and (3) the response of other sleep disorders to treatment with the dopamine agonist pramipexol. Clinical evaluation and polysomnography were carried out for a period of 12 months on 252 consecutively seen, prepubertal children with sleep disorders (156 males, 96 females; aged 15mo to 11y, mean 7y 1mo, SD3y 10mo). Sleep disorders unrelated to PLMs were treated, and six children received pramipexol for PLMs. Follow-up included clinical evaluation and polysomnography. Twenty-three per cent of children were diagnosed with PLMs on the basis of polysomnography. The presence of PLMs had usually been unrecognized clinically. The only clinical symptom that could be related to periodic limb movement disorder was a report of leg pains at morning awakening. Only two of 58 children had PLMs without other clinical or polysomnographic findings. Comorbidity seen with PLMs included neuropsychiatric syndromes (n=20), isolated sleep disordered breathing (SDB; n=29), and several other comorbid conditions (n=7). Seven of 11 children seen with attention-deficit–hyperactivity disorder also had PLMs. Surgery for SDB was associated with subsequent cessation of PLMs in 15 of 29 children. Five out of six children with PLMs who received pramipexol were able to tolerate the drug and experienced a complete disappearance of their PLMs. Presence of chronic fatigue, sleepiness, disrupted nocturnal sleep, and difficulties in falling asleep should lead to a systematic search for PLMs that is independent of associated syndromes. Isolated treatment of SDB might help eliminate some, but not all, PLMs.

The aim of this study was to determine the effectiveness of an intraoral appliance, the Innsbruck Sensorimotor Activator and Regulator (ISMAR), in improving drooling and eating skills in a group of children with cerebral palsy, and to determine which factors might indicate good candidates for this type of treatment. Eighteen children (13 males, five females; mean age 7 years 10 months, range 4 to 13 years) were selected. Measures of drooling and feeding skills were taken at baseline, at the completion of a 6-month control phase, and at two more 6-monthly time points after the ISMAR was fitted. Children varied greatly in both the length of time taken to tolerate wearing the ISMAR and duration for which the appliance was worn. Only six children (four females, two males) completed the full study. Their motor disabilities were athetosis (n=3), spastic quadriplegia (n=2), and hypotonia (n=1); four of the six children used a wheelchair for locomotion. None had epilepsy and none had greater than mild cognitive impairment. For these children drooling severity scores and eating and drinking skills improved significantly over the treatment period in comparison with the control phase. We conclude that the ISMAR remains a valid option in improving drooling in children and merits further study.

The aim of the study was to test the hypothesis that raised platelet-activating factor (PAF) may contribute to the aetiology of developmental dyslexia. PAF is a potent proinflammatory mediator which signals cell damage and facilitates natural killer cell activity. Raised PAF may help protect against tumourigenesis. As dyslexia has a partial genetic basis, the PAF hypothesis predicts that dyslexia may be negatively associated with a family history of cancer. To test this prediction, children with dyslexia (n=163) and children without dyslexia (n=154), with (n=152) and without (n=165) a family history of cancer (total n=317; mean age 11 years 5 months, SD 2 years 11 months), were compared on standard psychometrics (British Ability Scales subtests). Results showed that proportionately fewer children with dyslexia (38%) than controls (58.4%) had a family history of cancer, and there was some evidence of a ‘dose’ effect: children who had more relatives with cancer showed better reading and spelling. It was concluded that children at genetic risk of dyslexia who have a family history of cancer have better reading and spelling than those without a family history of cancer, confirming the prediction of the PAF hypothesis.

Congenital suprabulbar palsy is clinically characterized by problems of feeding, swallowing, drooling, and dysarthria. Epilepsy, delayed motor, cognitive, and language development, as well as learning disabilities may co-exist. Aetiology of the syndrome is diverse, yet studies often attribute it to specific entities. We report on nine patients (seven males, two females; age range 2 to 20 years), highlighting the heterogeneous causes of suprabulbar palsy using neuroimaging and emphasizing the need for systematic investigation for early detection and management. We identified patients with symmetrical infarcts involving the perisylvian region, apart from already-recognized conditions, such as congenital bilateral perisylvian syndrome (CBPS; a neuronal migration disorder) and Worster-Drought syndrome. CBPS simulates Foix-Chavany-Marie syndrome in adults because of staged stroke but differs in many respects. Anoxia or ischemia to the developing brain could be a common plausible aetiology. Studies with large groups of patients are required to differentiate the various subgroups and identify essential criteria for diagnosis.

Height is fundamental to assessing growth and nutrition, calculating body surface area, and predicting pulmonary function in childhood. Its measurement is hindered by muscle weakness, joint, or spinal deformity. Arm span has been used as a substitute, but is inaccurate. The objective of the study was to identify a limb measurement that precisely and reproducibly predicts height in childhood. Males (n=1144) and females (n=1199), aged 5 years 4 months to 19 years 7 months, without disability were recruited from Melbourne schools. Height, arm span, ulna, forearm, tibia, and lower leg lengths were measured with a Harpenden stadiometer and anthropometer. Prediction equations for height based on ulna length (U) and age in years (A) were developed using linear regression. Ulna centile charts were developed by the LMS method. For males, height (cm)=4.605U+1.308A+28.003 (R2=0.96); for females, height (cm)=4.459U+1.315A+31.485 (R2=0.94). Intra- and inter-observer variability was 0.41% and 0.61% relative to the mean, respectively. Height prediction equations from tibia, forearm, and lower leg length were calculated. We show that ulna measurement is reproducible and precisely predicts height in school-age children. It appears to be superior to arm span measurement when neuromuscular weakness, joint, or spinal deformity exists. Ulna growth charts should facilitate growth assessment.

The general aim of this study was to examine the stiffness and damping characteristics (rate at which oscillations diminish) of limbs of a small population of patients with spastic cerebral palsy (CP) during the Leg Drop Pendulum Test while under general anesthesia and to compare them with patients without CP, both awake and under similar anesthetized conditions. To facilitate a quantitative comparison the authors defined a set of parameters that reflect the stiffness and damping of limbs with spasticity under general anesthesia. To give these parameters more meaning a similar set was constructed for children without disabilities under conditions of normal wakefulness and under anesthesia. The test population of 10 patients with spasticity ranged in age from 4 to 19 years and had a mean age of 10 years 9 months (SD 5 years 10 months); there were four females and six males. The control population consisted of eight patients without disabilities who ranged in age from 7 to 19 years with mean age of 13 years 9 months (SD 3 years 3 months); there were six females and two males. To even out the populations, two limbs from the non-affected sides of two patients with hemiplegic spasticity (both female) were used in the control group. The Leg Drop Pendulum Test was administered to 10 limbs with spastic CP and 10 control limbs under general anesthesia. The two test populations were chosen from patients who were previously scheduled to undergo surgery. Two measures compared limbs of those under anesthetic with those under alert conditions: the damped natural frequency and the damping ratio. The natural frequency is the frequency at which a pendulum oscillates as it comes to rest; the damping ratio is a measure of how quickly the oscillations diminish. In spasticity, active muscle tone disappeared under anesthesia. In both groups the underlying biomechanics of the limb varied considerably. In controls the variation seemed to be growth related.

The aim of this study was to evaluate anaerobic muscle performance in children after long-term recovery from Guillain-Barré syndrome (GBS). Participants were recruited from all children and adolescents with GBS admitted to The Hospital for Sick Children, University of Toronto, Canada, between 1988 and 1995. We assessed 17 children (nine males, eight females; mean age at GBS diagnosis 7 years 11 months, SD 4 years 2 months; mean age at testing 14 years 1 month) more than two years after acute GBS. Participants completed the Wingate anaerobic test to evaluate mean and peak muscle power. For mean arm muscle power (mean 47.5% [SD 17.4%] of normal), only two participants were in the normal range. For mean leg muscle power (mean 83% [SD 28.3%] of normal), 15 participants were in the normal range. For arm peak power (mean 92.6% [SD 20.7%] of normal), 12 participants were in the normal range. For leg peak power (mean 116.3% of normal, SD 15.8%), all participants were in the normal range. Detailed manual muscle testing with the modified Medical Research Council scale was done on 34 muscle groups. Data were pooled to give a mean arm and leg muscle strength score (9.7, SD 0.30 and 9.4, SD 0.50 respectively). Pearson's correlations of muscle endurance with arm and leg strength were not significant. Children with GBS have excellent long-term recovery of peak muscle power. Muscle endurance, measured by mean muscle power, was normal in the legs but markedly low in the arms. Pediatric rehabilitation programs after GBS should specifically target endurance of arm muscles.

In this preliminary study, visual search for targets within and beyond the initial field of view was investigated in seven school-aged children (five females, two males; mean age at testing 8 years 10 months, SD 1 year 3 months; range 6 to 10 years) with various acquired, postnatal, focal brain injuries (haematoma, haemorrhage, meningioma, neuroblastoma, and cerebral abscess) in anterior or posterior sites of the left or right hemisphere, and seven control children (matched for age and sex) were also studied. All participants attended mainstream primary schools. The children with lesions underwent surgery after diagnosis (mean age at diagnosis 5 years 4 months, SD 2 years 7 months). Group results indicated that for the overall scores on three psychometric tests of visuospatial and fine motor abilities (Southern California Figure Ground Perception Test, Visual Organization Test, and Visual–Motor Integration Test), no difference between the children with left and right lesions was present. However, children with lesions in the right hemisphere, and not in the left hemisphere, took significantly more time than the controls to locate visual targets presented within and beyond the field of view. Examination of individual data suggested that, in accordance with brain imaging research, right-sided anterior cerebral lesions sustained in early childhood might have an enduring detrimental effect on voluntary visual search performance during development. This persistent effect of early brain injury might imply that developmental plasticity of the brain does not apply to certain specific functions of particular areas of the right hemisphere.

Salla disease, a free sialic acid storage disorder, is one of the 36 currently known disorders in Finland that form the Finnish disease heritage. Salla disease leads to learning disability with a wide clinical variation. Two main categories of the disease have been classified: a conventional subtype and a severe subtype with more severe defects. We present detailed neurocognitive profiles of 41 Finnish patients with Salla disease (19 females, 22 males; age range 11mo to 63y, median 19y). The neurocognitive development of patients with Salla disease was assessed by psychological and neuropsychological testing. All patients were also examined by a paediatric neurologist and a speech therapist. The characteristic cognitive profile consisted of a lower non-verbal performance (mean developmental age 13mo) compared with linguistic skills (mean developmental age 17mo). In particular, spatial and visual-constructive impairments were typical of these patients. Tactile and visual discrimination of forms was poor. Tasks demanding hand–eye coordination, maintenance of visual attention, and those requiring short-term visual memory and executive skills were performed better. Receptive language skills were notably better compared with expressive speech. The patients' interactive and non-verbal communication skills were quite strong. Another typical pattern with Salla disease was severe motor disability. After the second decade of life, the decline in these skills was more pronounced than patients' cognitive deterioration. Our results indicate that even though there is a considerable variation in the clinical findings of patients with Salla disease, the characteristic neurocognitive profile of the disease can be outlined.

Intrathecal baclofen is used increasingly to manage severe spasticity in children. Before implanting the baclofen pump, care providers typically ask how it will benefit their child. The purpose of this study was to describe the perceptions of care providers about intrathecal baclofen for management of spasticity in 80 individuals (52 males, 28 females). The individuals were younger than 22 years at the time of implantation (mean age 11 years, SD 5 years; range 3 to 21 years). Participants had been implanted with the pump for a minimum of one year at the time of evaluation. The most common diagnoses were quadriplegic and diplegic cerebral palsy and traumatic brain injury. Most participants were at level IV and V on the Gross Motor Function Classification System. After pump implantation most participants had tone reduction on the Ashworth scale of 1 to 1.9 in the lower extremities and 0 to 0.9 in the upper extremities. Lower extremity range of motion was maintained in 43 of 51 individuals (84%) and lost in 8 participants (16%). Complications requiring surgery occurred in 63 of a larger group of 152 patients (incidence per patient–year of follow-up was 0.19). Thirty-one of the 80 children had orthopedic procedures after pump placement. Only one of these was unexpected and none had rapid progression of scoliosis. Most treatment goals were achieved. Goals most commonly chosen (decreased pain, prevention of worsening of deformity, and improved ease of care) were improved in 91%, 91%, and 88% of participants respectively. Ninety-five per cent of care providers agreed that they would have this procedure performed again (81% strongly agreed, 14% slightly agreed). All care providers reported improvement in scores on the Caregiver Questionnaire. This information has been helpful to families considering intrathecal baclofen therapy.

The purpose of this study was to determine and measure the factors that affect the remodeling of the proximal femur after varus osteotomy in children with spastic cerebral palsy (CP). Seventy-five varus proximal osteotomies were performed on 44 children (26 females, 18 males) for hip dysplasia. Thirty-nine patients had spastic CP and five had spastic diplegia; 35 patients used a wheelchair for mobility and nine could walk. Mean age at time of surgery was 8 years (SD 4 years), range 2 years 6 months to 15 years. Preoperative, immediate postoperative, and follow-up (0 to 6 months, 6 months to <1 year, 1 year to <2 years, 2 years to <4 years, 4 years to <6 years, and 6 years to <8 years) radiographs were reviewed. Neck-shaft angles were measured. Correlations to examine the relationship between age at time of surgery and ambulatory status with postoperative changes in neck-shaft angles were reviewed. Remodeling of the proximal femur does occur after varus osteotomy as long as the physes of the proximal femur show growth potential. Remodeling was quite variable between patients: children younger than 4 years old at the time of surgery remodeled more than children who were older than 4 years. Ambulatory status has little effect on the magnitude of remodeling. This study reinforces the need to follow these patients with periodic hip radiographs until completion of growth.

The objective of the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) Evidence Reports is to provide the biomedical research and clinical practice communities with the current state of evidence about various interventions for the management of developmental disabilities. The AACPDM evidence reports aggregate all that has been published about outcomes of an intervention for a medical condition, gauge the credibility (i.e. strength of the internal validity) of that evidence, and identify gaps in our scientific knowledge. Methodology for developing and procedures for approving these systematic reviews can be found on the internet at www.aacpdm.org in the AACPDM Database of Evidence Reports which contains initial and updated reports.

We describe a 9-year-old female with thoracic epidural haematoma. The clinical course simulated Guillain-Barré syndrome (GBS) so intravenous immunoglobulin therapy was started at the paediatric clinic. Magnetic resonance imaging (MRI) 3 days after admission showed thoracic epidural haematoma between T2 and T8. An emergency laminectomy was performed and the patient's neurological symptoms began to improve immediately after surgery and she made a full recovery during the 2 weeks of follow-up. Time is a very important factor in achieving reversibility of symptoms of compressive cord lesions, such as spinal epidural haematoma, and MRI is mandatory for patients with progressive paraplegia, even though the signs and symptoms might suggest GBS.

Interest in the area of cerebral palsy (CP) and electrical stimulation continues to grow because it has potential as a passive, non-invasive, home-based therapy, which is claimed to result in gains in strength and motor function. If proved effective it might provide an alternative to resistive exercise techniques for children with poor selective muscle control, or indeed it might improve treatment compliance in those children who find exercise programmes difficult. Unfortunately, early reports on the efficacy of this intervention are undermined by poor methodology. A lack of consensus on optimal treatment parameters and variation in the physical abilities of the participants further confound interpretation of the literature.

This case report documents an unusual presentation of dopa-responsive dystonia (DRD) in three siblings (two females, one male) which simulated cerebral palsy (CP) and describes the evolution of their spinal deformity in relation to growth and responsiveness to levodopa therapy. The siblings were normal at birth with a negative history of neurological disease or spinal imbalance. They showed marked phenotypic variation but all developed progressive scoliosis and neurological impairment with mixed spastic dystonic features, leading to the misdiagnosis of spastic dystonic CP. Age at establishment of the diagnosis of DRD and levodopa trial for the three patients was 12 years, 9 years 6 months, and 3 years 6 months respectively. In patients 1 and 3, spinal deformity responded dramatically to levodopa treatment and neurological symptoms were ameliorated. Patient 2 developed a rigid scoliotic curve and, despite neurological improvement with levodopa, the spinal curvature remained unresponsive necessitating surgical correction. Spinal decompensation is a common manifestation of DRD, which with early diagnosis and initiation of levodopa treatment has an excellent prognosis. This report highlights the variability of clinical expression in DRD and the importance of an adequate trial of levodopa when unexplained dystonic features are documented.

Children with neurofibromatosis type 1 (NF1) have difficulties in forming friendships and are often rejected by their peers. Factors that contribute to these negative social outcomes are poorly understood. This study investigated the social skills of children with NF1 and the influence of comorbid conditions, such as attention-deficit–hyperactivity disorder (ADHD) and specific learning dfficulties. We assessed and analyzed data from 79 children with NF1 (42 males, 37 females; mean age 11 years 6 months, SD 2 years 4 months) and 46 unaffected siblings (19 males, 27 females; mean age 12 years 1 month, SD 2 years 6 months; age range 8 to 16 years). Social skills were measured with the Social Skills Rating System. Children with NF1 had significantly poorer social outcomes than their unaffected siblings, and significantly poorer social skills in comparison with normative data. The presence of ADHD (in 39% of children with NF1) was the major risk factor for poor social functioning. Children with NF1 and ADHD had the poorest social skills and social outcomes when compared with children with NF1 only or children with NF1 and learning difficulties. These findings dispel the previous assumption that NF1 alone is associated with poor social functioning and has major implications for the development of effective interventions.