This study evaluated the effect of specific postural support on motor behaviour of infants with and without minor neurological dysfunction (MND). The following questions were addressed: (1) Does application of supportive pillows affect the time during which the infant exhibits general movements (GMs) or specific movements? We defined specific movements as movements of specific parts of the body that occur in a specific, recognizable way. (2) Does application of pillows improve the quality of GMs or the repertoire of specific movements? (3) Is a pillow effect affected by neurological condition? Forty healthy, term infants (16 males, 24 females; mean age 3.04m [SD 1.24mo], range 1–5mo) participated in the study. Twenty were neurologically normal and 20 had MND. Spontaneous motor behaviour in a supine position was video-recorded for 180 seconds in four conditions applied in random order: support by a pillow in (1) the shoulder region, (2) the pelvic region, (3) the shoulder and pelvic region, or (4) no pillow support. Two independent assessors evaluated the quality of GMs. The other movement parameters were assessed with a computer program. Duration of movements was determined and a variation index, consisting of the number of different specific movements in a condition, was calculated. The presence of pillows did not affect the time spent in GMs, specific movements, or GM quality in either group. In neurologically normal infants the shoulder pillow with or without pelvic pillow induced an increase in the variation index (p<0.01), whereas in the infants with MND, all pillow conditions resulted in a substantial increase of the movement repertoire (p<0.001). Our results demonstrate that specific postural support promotes variation in motor behaviour of young infants. This is particularly true for infants with MND.

The effects of adapted spoons on food spilling and movement kinematics (movement duration, dysfluency) were examined in people with tetraparetic cerebral palsy (CP). We varied the thickness of the spoon's handle (diameters of 1, 3, and 5cm), the substance with which the spoon was filled (sugar or water), and the size of the bowl into which the spoon had to be emptied (diameter 5 or 11cm). Ten adolescents with tetraparesis (five males, five females; mean age 17y 2mo [SD 1y 3mo]; range 14y 7mo–18y 6mo) and 12 healthy comparison participants (four males, eight females; mean age 25y 6mo [SD 3y 0mo]; range 20y 0mo–30y 0mo) participated. Four participants with tetraparesis could walk independently, while the other six sat unstrapped in a wheelchair. The task consisted of picking up and transporting the filled spoon and emptying it into a bowl. Movements of the hand were recorded by a three-dimensional motion tracking device. When the spoon's handle was thickened participants with CP were faster in picking up the spoon and transporting it to the bowl, in particular when the spoon was filled with water. Importantly, this faster performance did not lead to increased spilling. These results are the first systematic test of the supposed beneficial effect of adapted spoons on movement performance in people with CP.

We assessed the influence of equinus gait treatments on the vertical displacement of the body's centre of mass (COM) in 21 patients with cerebral palsy (14 males, 7 females; mean age 8y 9mo [SD 2y]; range 3y 7mo–17y) presenting different topographical types (quadriplegia, n=1; diplegia, n=6; right hemiplegia, n=6; and left hemiplegia, n=8). Vertical COM displacement was computed from ground reaction forces, and lower limb kinematics was recorded simultaneously. Equinus gait was treated with non-operative treatments (i.e. botulinum toxin injections and stretching casts) in 14 patients, and with operative treatments in seven patients. After non-operative treatments, the entire ankle displacement shifted towards dorsiflexion throughout the gait cycle, but the amplitude of the third foot rocker (TR) and vertical COM displacement remained unchanged. However, after operative treatments, the amplitude of TR increased and vertical COM displacement decreased. A negative linear correlation was found between the former variables in all the patients where 53% of the changes in their vertical COM displacement, after equinus gait treatments, were explained by the changes in TR amplitude. In fact, TR remains a main gait determinant, reducing the vertical COM displacement after equinus gait treatment and influencing the general gait pattern.

The aims of the study were to describe the functional ability, health status, and health-related quality of life (HRQL) of young children with a vision impairment or blindness (VI/BL) and to examine the effect of different types of ophthalmic condition and the presence of other impairments or systemic disorders. A cross-sectional community survey of children aged 3 to 8 years with VI/BL was conducted in four areas of England using the Health Utilities Index Mark 3 system. Seventy-nine children (47 males, 32 females; mean age 6y 2mo [SD 1y 6mo]) met the selection criteria: 43% had a visual pathway condition, 38% a condition of the eye, and 19% nystagmus alone; and 61% had additional impairments/disorders. Eighty per cent had functional limitations on at least two of the following attributes: vision, hearing, speech, cognition, ambulation, dexterity, emotion, and pain. Forty-four per cent had functional limitations on four or more attributes. Children with nystagmus alone had significantly higher mean HRQL utility scores (0.80 [SD 0.26]) than children with a condition of the eye (0.45 [SD 0.33]), who, in turn, had higher scores than children with a visual pathway condition (0.05 [SD 0.33], p=0.002). Children with an isolated VI/BL had significantly higher mean scores (0.73 [SD 0.21]) than those with additional impairments/disorders (0.09 [SD 0.34], p<0.001). These findings underline the need for a broad assessment of each child with VI/BL and a multidisciplinary approach to care.

We investigated gait in newly diagnosed children with autism. From our previous study with 6- to 14-year-olds, we hypothesized that motor symptoms indicative of basal ganglia and cerebellar dysfunction would appear across the developmental trajectory of autism. Two groups were recruited: children with autism (eight males, three females; mean age 5y 10mo [SD 9mo]; range 4y 4mo–6y 9mo) and a comparison group of typically developing children (eight males, three females; mean age 5y 9mo [SD 1y 1mo]; range 4y 3mo–7y 2mo). The GAITRite Walkway was used to gather data from average gait and intra-walk measurements. Experienced physiotherapists analyzed gait qualitatively. Groups were matched according to age, height, weight, and IQ; although not statistically significant, IQ was lower in the group with autism. Spatiotemporal gait data for children with autism were compatible with findings from patients with cerebellar ataxia: specifically, greater difficulty walking along a straight line, and the coexistence of variable stride length and duration. Children with autism were also less coordinated and rated as more variable and inconsistent (i.e. reduced smoothness) relative to the comparison group. Postural abnormalities in the head and trunk suggest additional involvement of the fronto-striatal basal ganglia region. Abnormal gait features are stable across key developmental periods and are, therefore, promising for use in clinical screening for autism.

The linguistic abilities of children born preterm at 32 weeks' gestation or earlier at Kuopio University Hospital during 1984 to 1986 were evaluated during successive phases of a prospective study. The study protocol included the Rapid Automatic Naming test and Wechsler Intelligence Scale for Children – Revised at 9 years of age and a modified Stroop Color-Word test and the Wechsler Intelligence Scale – Revised at the age of 16 years. Fifty-one children born preterm (26 males, 25 females) and 51 age-matched and sex-matched term controls (26 males, 25 females) were studied at the age of 9 years. At the age of 16 years, 40 children born preterm (19 males, 21 females) and 31 term controls (14 males, 17 females) participated in the study. The children born preterm scored significantly lower in two naming tasks than the controls at the age of 9 years. However, there was no difference between the study groups in naming skills at the age of 16 years or in verbal IQ in either study phase. Maternal education level was not associated with naming skills. Thus, the consequences of preterm birth seem to be minor in relation to linguistic skills during school age and diminish by adolescence.

The development of self-management skills by adolescents with myelomeningocele is an ongoing process. Previous studies lack consensus about what data can be accurately obtained from adolescents. This cross-sectional study using a convenience sample of 66 adolescent–parent dyads evaluated whether adolescents with myelomeningocele and their parents are interchangeable reporters of data. Adolescents' ages ranged from 12 to 21 years with a mean of 16 years 2 months (SD 2y 8mo); 38 were female, 28 were male; 30% had thoracic lesions, 32% had lumbar lesions, 15% had lumbosacral lesions, 23% had sacral lesions, and 85% had ventriculoperitoneal shunts. In this analysis, participants reported activities (decision-making, household responsibility, and friendship activities) and select outcomes (functional status, self-management, and social competence) similarly. However, differences emerged in reports of beliefs (adolescent future expectations, family variables) and select developmental competencies (school, job, athletic, behavioral, attractiveness, and romantic appeal). Analysis using t-test and interclass correlations supported a pattern of adolescent–parent agreement in areas of observable behavior and differences in more subjective domains such as perception of developmental competencies.

Knowledge about the level of functional independence that can be expected in adulthood might support decisions on the treatment of newborn infants with spina bifida. This study determined functional independence among young adults with spina bifida and its relationships with pathological characteristics known from birth (hydrocephalus and level of lesion). Data were collected from medical records and by physical examination. Functional independence was assessed on six domains (self-care, sphincter control, transfers, locomotion, communication, and social cognition) using the Functional Independence Measure (FIM). Participants were 165 patients with spina bifida (69 males, 96 females; age range 16 to 25y, mean 20y 9mo [SD 2.9]; 117 with hydrocephalus). Patients without hydrocephalus were independent for all FIM domains except sphincter control, as were patients with hydrocephalus with a lesion level below L2. Most patients with hydrocephalus and a lesion at L2 or above were dependent as regards sphincter control (98%), locomotion (79%), and self-care (54%), and quite a few needed support in transfers (38%), social cognition (29%), and communication (15%).

The effect of surgical correction of impaired forearm rotation on associated body movement patterns was studied prospectively by comparison of preoperative and postoperative three-dimensional video analysis of the upper extremity and trunk in eight male and two female patients with hemiplegic cerebral palsy (CP; mean age 16y 2mo [SD 4y 11mo]; range 11–27y). A customized parameter, ‘extrinsic forearm rotation’, was used to quantify associated movements supplementing forearm rotation. After surgical correction of the pronation deformity, active forearm supination during a functional reaching task had improved by a mean of 37° in combination with significantly decreased extrinsic forearm rotation by a mean of 13°. In addition, an average loss of 16° of active pronation in combination with increased extrinsic forearm rotation (mean 8°) was observed. On the basis of these results we conclude that successful surgical correction of a pronation deformity in patients with CP directly affects related movement patterns of the upper extremity and trunk.

Nocturnal enuresis is a genetically determined maturational disorder of the central nervous system. Lack of arousal and an inhibition deficit of the micturition reflex have been found as the main dysfunctions leading to wetting during sleep. Both are mediated by nuclei in the brainstem. Therefore, evoked potentials (brainstem auditory evoked potential [BAEP], visual evoked potential [VEP], event-related late acoustic-evoked potential [P300]), and the prepulse inhibition (PPI) of the startle reflex were assessed to further evaluate the brainstem deficit compared with cortical function. Thirty-seven children with nocturnal enuresis, aged 8 years to 14 years 8 months (mean age 10y 7mo [SD 1y 10mo]; 27 males, 10 females) were compared with 40 controls (mean age 10y 7mo [SD 1y 6mo]; 17 males, 23 females). Left interpeak latencies I–III and I–V of the BAEP were increased in children with nocturnal enuresis. VEP measures did not differ between patients and controls. However, children with a positive family history of enuresis showed a shorter latency towards N75 and P100 than children without such a family history. P300 and PPI measures did not differ. We conclude that this strongly supports the postulation of a maturational deficit of the brainstem in nocturnal enuretic children. The increased interpeak latencies I–III and I–V of the BAEP support the hypothesis of an arousal deficit mediated by delayed maturation of brainstem function. Differences in VEP latencies might point towards functional cortical differences in children with a family history of nocturnal enuresis.

An ongoing population-based register of cerebral palsy (CP) in the West of Ireland was established in 2002 to calculate the prevalence of CP and to monitor CP epidemiological trends in the area. Children were only included if they were at least 5 years of age; children with postneonatal CP were also included. Eighty-five children were identified, giving an overall prevalence for the period 1990 to 1999 of 1.88 per 1000 neonatal survivors (95% confidence interval 1.5–2.4). Males accounted for 68% (n=51) and females for 32% (n=24) of all cases. Among infants weighing less than 1500g at birth, the rate of CP was 39/1000 neonatal survivors compared with 1.3/1000 for infants weighing more than 2500g. The most common CP subtype was bilateral spastic CP (51%), followed by hemiplegia (32%), dyskinesia (9%), and ataxia (7%). Eighteen per cent of all children were unable to walk, 21% had a sensory impairment, and 56% had an intellectual impairment.

A prospective controlled study with repeated measures before and after surgery examined the medical, surgical, and health outcomes of gastrostomy for children with disabilities at a tertiary paediatric referral centre in the North Thames area, UK. Anthropometric measures included weight, mid-upper-arm and head circumference. Five-day prospective food diaries were completed and data on physical health and surgical outcomes recorded. Seventy-six children participated and underwent gastrostomy (44 males, 32 females; median age 3y 4mo, range 4mo–17y 5mo), and 35/76 required an anti-reflux procedure. Categories of disability were: cerebral palsy (32/76), syndrome of chromosomal or other genetic origin (25/76), slowly progressive degenerative disease (11/76), and unconfirmed diagnosis (8/76). Most children had gross motor difficulties (99%) and were non-ambulant (83%). Oromotor problems were identified in 78% of children, 69% aspirated, and 65% were fed nasogastrically before surgery. The mean weight before surgery was –2.84 standard deviation score (SDS; SD 2.21, range –9.8 to 3.4). Two-thirds of children achieved catch-up growth postoperatively: weight-for-age (mean difference 0.51 SDS, 95% CI 0.23–0.79, p=0.001) and mid-upper arm circumference (mean difference 1.12cm, 95% confidence interval 0.50–1.75, p=0.001). Health gains included a reduction in drooling, secretions, vomiting, and constipation. Major surgical complications were found in 13/74 children. The study provides evidence that catch-up growth and health gains are possible following gastrostomy.

This study compared the passive stiffness of wrist flexors and the strength of wrist flexors and extensors in three different wrist positions (30° of flexion, neutral, and 30° of extension) between children with cerebral palsy (CP) and typically developing (TD) comparison children. It also examined associations between these characteristics and manual function in children with CP. Eleven children with spastic hemiplegic CP (six females, five males; mean age 8y 5mo [SD 1y 8mo], range 6–11y) and 11 TD children, matched for age and sex, took part in this study. Passive stiffness of muscles was measured as the torque/angle relation during passive motion. Isometric strength tests were performed and the time needed to complete three tasks based on the Jebsen–Taylor Hand Function Test was recorded. Flexor stiffness was higher in the group with CP. Strength of flexors and extensors in the group with CP was lower with the wrist extended. No difference among test positions was found in the TD group. Moderate correlations were observed between manual function and variables related to strength and stiffness of wrist muscles in the group with CP. Children with CP showed muscle alterations coherent with the use of the wrist in flexion. Intervention on these characteristics could have a positive impact on manual function.

Cognitive deficits are the most common complication in children with neurofibromatosis type 1 (NF1), and academic achievement is broadly affected. There is a lack of consensus in the literature regarding the frequency of general and specific learning disabilities, which seems to be related to the lack of a consensus on diagnostic criteria. The present study examined the frequency of specific learning disabilities (SLDs) in NF1, using an intellect–achievement discrepancy for diagnosis, as well as general learning difficulty associated with a lowering of general intellectual ability. The cohort consisted of 81 children with NF1 (43 males, 38 females; mean age 11y 6mo [SD 2y 4mo]; range 8y–16y 9mo) and 49 comparison children (20 males, 29 females; mean age 12y [SD 2y 6mo]; range 8y 2mo–16y 8mo). Problems with academic achievement were present in 52% of children with NF1; however, only 20% of the children with NF1 were diagnosed with an SLD (32% had more general learning problems). Only males with NF1 were at significant risk for SLD, and Verbal IQ<Performance IQ discrepancies were predictive of the presence of an SLD. There was a significant comorbidity of literacy-based learning disabilities and attention-deficit–hyperactivity disorder. We were able to define three subtypes of children with NF1 having distinct cognitive profiles, each with important implications for assessment and remediation.

Saccadic eye movements are essential for redirecting the fovea at different visual targets. In adults and children saccades are remarkably stereotyped. Peak velocity and duration of saccades are a simple function of saccade amplitude called the ‘main sequence’. Saccades that are substantially slower than normal often reflect disease of the brain stem saccade generator but may also be associated with diseases of higher level structures including the cerebral hemispheres and superior colliculus. However, little is known about the speed of saccades in infancy. A single previous study reported that infant saccades may be similar to or slower than those of adults, but few saccades were recorded. The present study re-examined this issue with the technique of measuring optokinetic (OKN) quick phases, which are readily elicited from healthy and sick infants, with a view to using saccade speed as a quantitative neurological measure. We measured the duration and peak velocity of saccades (main sequence) using direct-current electro-oculography from OKN quick phases in 18 infants (nine males, nine females) aged 2 to 18 months (mean age 8mo [SD 4]) and seven adult comparison participants (four males, three females; age range 21–32y, mean age 27y [SD 3]). All infant saccades showed typical relationships between duration, peak velocity, and amplitude. Overall, there was no statistically significant difference between adult and infant main sequences for duration or peak velocity. However, the differences in the main sequence for duration almost reached significance (p=0.051) for infant saccades being faster than adults. Individual differences were also present, and some infants produced saccades faster than adults, but not slower. There was no significant age trend. We conclude that measuring saccade speed is practicable in the young infant. From the age of at least 2 months, infants generate saccades with speeds similar to or slightly higher than those of adults.

The purpose of this article is threefold: (1) to describe the development, reliability, and validity of a revised physical performance measure for individuals with mucopolysaccharidosis type I (MPS I); (2) to standardize the test on a normal sample; and (3) to compare results from a selected sample of individuals with MPS I with age-based centiles. The MPS Physical Performance Measure (MPS-PPM) is composed of eight timed functional tasks (FT-8) and two endurance tasks with a modified Energy Expenditure Index for comfortable walking (CW) and fast walking (FW) speeds. Age norms were derived from a convenience sample of 150 typically developing children and adolescents (75 males, 75 females; mean age 11y 2mo [SD 4y 5mo]; range 5–22y). Using a Rasch model for speed tests and confirmatory factor analysis, we established the unidimensionality of the FT-8. Interrater reliability of the FT-8 (intraclass correlation [ICC]=0.98) and test–retest reliability of the FT-8 (ICC=0.96), CW (ICC=0.91), and FW (ICC=0.83) were good. Results of the age-based profiles in 10 individuals with MPS I (five males, five females; mean age 14y 2mo [SD 7y 6mo]; range 6–29y) indicate that the amount of time needed to perform functional tasks is severely affected by the disease, and most individuals were at or below the fifth centile for their age. The patterns of limitations in endurance were more varied. These results suggest the utility of using this revised MPS-PPM to identify the extent of limitation in age-expected physical performance. Implications for using the MPS-PPM for monitoring physical performance changes during clinical interventions are discussed.

The aim of this study was to investigate psychosocial, cognitive, and motor functioning in patients clinically suspected of Sotos syndrome and to examine differences between patients with deletions or mutations of the gene encoding nuclear SET domain-containing protein 1 (NSD1; the major cause of the syndrome) and those without such alterations. Twenty-nine participants (21 males, 8 females) clinically suspected of Sotos syndrome (mean age 11y 10mo [SD 10y 11mo], range 1y 10mo–48y 5mo) were divided into an NSD1 mutation group (n=12; 8 males, 4 females) and an NSD1 non-mutation group (n=17; 13 males, 4 females). Intelligence, behaviour problems, attention-deficit–hyperactivity disorder (ADHD) symptoms, temperament, adaptive behaviour, and motor functioning were assessed with an extensive test battery. Scores were compared with those of control groups, and scores of the two subgroups were compared with each other. The mean IQ in the 21 individuals tested was 76 (SD 16; range 47–105). High rates of behaviour problems were found and patients lagged 1y 7mo to 2y 7mo behind in aspects of adaptive behaviour. In comparison with a control group of patients with a learning disability, motor functioning was better. NSD1 mutation compared with NSD1 non-mutation patients showed easier temperament, and fewer NSD1 mutation patients scored in the clinical range for ‘total behaviour problems’ (3/11 vs 13/17), ‘internalizing behaviour’ (2/11 vs 11/17), and ADHD (0/9 vs 4/15).

The present study investigated the reliability of self-reported rating of Gross Motor Function Classification System (GMFCS) levels compared with professional rating, and changes in gross motor function over time, in adults with cerebral palsy. Twenty-nine females and 33 males aged between 18 years 5 months and 62 years 11 months (mean age 34y 7mo [SD 10y 6mo]) participated in the study. Participants rated their current gross motor function using the GMFCS and reported their judgement of their gross motor function at age 10 to 12 years. The project leader, a physical therapist, also classified participants' current GMFCS levels and conducted a chart review on all accessible medical records of participants' gross motor function when they were 10 to 12 years old, rating the GMFCS level accordingly. Intraclass correlation coefficients (ICC) between self-reported and professional ratings showed excellent agreement (ICC=0.93–0.95, 95% confidence interval [CI] 0.89–0.97). More than half the participants experienced a stable gross motor function from the age of 10 to 12 years to the present. Those at GMFCS Levels II and III at the age of 10 to 12 years (according to the professional rating) had significant change for the worse in gross motor function over time, with odds ratios of 9.30 (95% CI 1.2–73.0, p=0.03) and 7.00 (95% CI 1.1–43.0, p=0.04) respectively. Interview data on circumstances regarding changes in gross motor function since childhood are also reported. Changes in GMFCS level were mostly associated with physical or social environmental factors.

Reliability and validity of the Developmental Coordination Disorder Questionnaire (DCD-Q) was assessed using a population-based sample of 608 children (311 males, 297 females; mean age 7y 8mo [SD 2y 4mo]), a sample of 55 children with DCD referred to a rehabilitation clinic, and a control sample of 55 children matched for age and sex (48 males, seven females in each sample; mean age 8y 3mo [SD 2y]). The DCD-Q is reliable and valid in the age range for which the questionnaire was developed(8y–14y 7mo) and in a younger age range (4–8y). Sensitivity and specificity of the DCD-Q was assessed using the Movement Assessment Battery for Children as the criterion standard. The DCD-Q met the standard for sensitivity (80%) in the clinic-referred sample (81.6%), but not in the population-based sample (28.9%). Specificity almost reached the standard of 90%: 89% in the population-based sample and 84% in the clinic-referred sample.

The purpose of the study was to provide normative data for the Teddy Bear Cancellation Test (TBCT) and to evaluate prospectively the frequency of unilateral spatial neglect (USN) in children with acquired brain injury (ABI). In the control group (n=419; 218 males, 201 females; mean age 5y 1mo [SD 1y 4mo]; range 3 to 8y) omissions were rare and decreased with age. A left displacement of the first three teddy bears cancelled was observed with increasing age. This preferential left-to-right cancelling strategy was interpreted as learned under the influence of reading habits. The same test was used prospectively in 41 children with ABI (24 males, 17 females; mean age 5y 5mo [SD 2y]; range 3 to 8y) admitted to a paediatric rehabilitation department specializing in acquired brain lesions. In patients and controls, children under 6 years of age omitted more items than older children. The localization of omissions was skewed significantly to the left in children with right-sided lesions compared with children with left-sided lesions. USN was observed in seven patients with ABI. Left USN was found in three of the 10 patients with right-sided ABI. Right USN was present in two of the patients with 15 left-sided ABI and two of the 16 patients with non-lateralized ABI. Left USN is frequent in children after right-sided brain injury. The relatively high incidence of right spatial neglect in children is discussed in relation to the development of hemispheric specialization.