Childhood craniopharyngiomas are histologically benign tumours arising from remnants of Rathke's pouch in the hypothalamic–pituitary region. The two common treatment approaches are primary total resection or limited resection followed by radiotherapy. To study the outcome after a primary surgical approach, we followed 25 consecutive patients (10 females, 15 males) under 16 years of age who were treated in a single institution with a management policy of radical tumour excision (mean age at diagnosis 9 years 2 months, SD 4 years 3 months; range 2 years 9 months to 15 years 11 months). Mean follow-up after primary surgery was 11 years 3 months (SD 7 years 7 months). Tumour control, and neurological, endocrine, and hypothalamic complications and their impact on health-related quality of life were assessed (medical follow-up, semi-structured interview, and questionnaires). Results of tumour control were generally good, however, local failure was observed in 6 of 25 patients, and severe late-treatment complications decreased quality of life for many long-time survivors. Endocrine deficiency occurred in 24/25, visual complications in 16/24, neurological complications in 8/24, obesity in 14/23, increased daytime sleepiness in 6/21, and significant school problems in 10/20. Patients with craniopharyngioma rated their health-related quality of life as considerably lower than healthy controls; the domains of social and emotional functioning were particularly affected. Parents' ratings were considerably lower than those of the patients. Poor functional outcome was associated with large tumours infiltrating or displacing the hypothalamus, the occurrence of hydrocephalus, and young age at diagnosis, but also with multiple operations due to tumour recurrence. Alternative treatment strategies should be considered, especially in very young patients with large tumours.

Impact of white matter abnormalities (WMAs) on neuropsychological functioning in children with early-treated phenylketonuria (ETPKU) was examined. Children with ETPKU (20 males, 12 females, mean age 11 years 2 months, SD 3 years 6 months) and controls (20 males, 14 females, mean age 10 years 4 months, SD 3 years 1 month) aged 7 to 18 years were assessed using tests of attention, processing speed, memory and learning, executive function, and academic achievement. Those with ETPKU, exhibiting WMAs extending into subcortical/frontal regions (n=14), displayed significant impairments in a number of domains. Children with ETPKU but no WMAs (n=6), or pathology restricted to the posterior periventricular region (n=12), displayed only mild deficits. Concurrent phenylalanine levels correlated weakly with cognitive parameters, whereas lifetime phenylalanine levels were associated with deficits in several cognitive domains. Impairments in children with extensive WMAs are consistent with compromised neural transmission, which is characterized by dysmyelination. However, children with no detectable, or mild WMAs, also displayed cognitive problems, indicating that neuropsychological functioning in children with ETPKU is determined by a complex interaction of biological and environmental factors.

The aim of this study was to examine the character of motor dysfunction in individuals with Angelman syndrome (AS). Thirty-three children and adolescents (median age 6 years, range 18 months to 23 years) were consecutively investigated for learning disability, epilepsy, and motor dysfunction to detect suspected AS. Twenty-three individuals (13 males, 10 females; median age 5 years 6 months, range 21 months to 23 years) fulfilled international consensus criteria for AS. Clinical diagnosis was supported by a positive DNA methylation test in eleven participants. Ten participants (seven males, three females; median age six years, range 18 months to 13 years) did not comply with consensus criteria for AS and were regarded as a comparison group. There was no significant difference between the AS and the comparison group regarding age or developmental level. Median developmental quotient level was 26 months (range 8 to 63 months); median gross motor developmental level in participants with AS was 24 months (range 8 to 60 months); median fine motor developmental level was 15 months (range 6 to 60 months). Muscle strength, spasticity, tremor, and coactivation were assessed: distal lower limb spasticity, ataxic like gait, stiff lower limbs, and the presence of coactivation during locomotion were significantly more frequent in participants with AS than in the comparison group (p<0.05). Asymmetry of muscle strength and spasticity were frequent. Neurological abnormalities were insufficient for a diagnosis of cerebral palsy and impeded function less than immaturity in both AS groups. Risk of increasing impairment needs to be anticipated to prevent negative long-term effects of muscle imbalance and motor asymmetries in individuals with AS.

The Carnegie Council on Adolescent Development, USA has identified activities, beliefs, and perceptions critical for healthy development. The aim of this study was to measure the activities, beliefs and expectations, and perceived outcomes of adolescents with myelomeningocele. In this descriptive study, 66 adolescents with myelomeningocele, aged 12 to 21 years and functioning at grade level, completed a structured interview. Thirty-eight (58%) of the participants were female. The level of lesion was distributed as follows: 30% had thoracic level lesions, 32% had lumbar level lesions, 15% had lumbosacral level lesions, and 23% of the sample had sacral level lesions. Instruments used had both established reliability and validity (WeeFIM, Harter's Self-Perception Profile, Austin's Child Attitude Toward Illness Scale, and Snyder's Hope Scale, Adolescent Decision-Making Inventory, Adolescent Coping Scale) or were scales developed for this study (Adolescent Activities Inventory, Future Expectations Scale, Communication Efficacy, and Adolescent Self-Management and Independence Scale). Scale reliabilities ranged from 0.70 to 0.88. These participants, though hopeful and positive in their attitudes toward myelomeningocele and generally able to perform activities of daily living independently, are not engaging in the full range of adolescent activities (decision making, friendship activities, and household responsibilities) and achieving positive outcomes (self-management and job) necessary to make a successful transition to adulthood. This might explain why so many individuals with myelomeningocele are underemployed and are not living independently as young adults.

Postural control during reaching with the dominant arm was assessed in 58 preterm children with cerebral palsy (CP) aged 2 to 11 years, comprising 34 with spastic hemiplegia (17 males, 17 females) and 24 with bilateral spastic CP (bilateral CP; 15 male, 9 females). Assessments were made by multiple surface electromyogram (EMG) and kinematic recording. Mean gestational age at birth for the children with spastic hemiplegia and those with bilateral CP was 28.6 weeks (SEM 0.33) and 28.2 weeks (SEM 0.34) respectively; their mean birthweights were 1158g (SEM 58) and 1190g (SEM 59) respectively. All but one of the children with spastic hemiplegia could walk without restriction, the exception being a child who had self-mobility with limitations. In the group of children with bilateral CP, nine walked without assistive devices, 10 could walk with assistive devices, and five children needed a wheelchair for self-mobility. Comparison data of 29 typically developing children (10 males, 19 females) born at term with appropriate birthweight were available. Results indicated that in most children with CP the basic level of postural control (‘direction-specificity’, ie. muscle activation on the side opposite to direction of body sway) was intact. However, the children with CP showed dysfunctions in: (1) recruitment order of the postural muscles, i.e. they exhibited a stereotyped top-down recruitment; and (2) the ability to modulate muscle contraction (that registers on EMG) to task-specific conditions. The latter dysfunction was more pronounced in children with bilateral CP than in those with spastic hemiplegia. Postural dysfunctions were correlated to some extent with the degree of disability in everyday activities as assessed by the Pediatric Evaluation of Disability Inventory.

This study investigated the reliability of the modified Tardieu scale in the assessment of biceps spasticity in the upper limbs of children with hemiplegic cerebral palsy (CP). Ten children, with hemiplegic CP participated in the study: six males (mean age 9 years, SD 4 years) and four females (mean age 12 years, SD 3 years). Blinded, duplicate measures of dynamic elbow extension were performed on the hemiplegic arm at time 0 and 7 days later, using the three angular velocities described in the Tardieu scale (V1, slow; V2, speed of gravity; V3, as fast as possible). The resulting elbow joint angles were defined as R1, the angle of catch following a fast velocity stretch at either V2 or V3; and R2, the passive range of movement achieved following a slow velocity stretch at V1. Both elbow joint angle and movement angular velocity were measured by three-dimensional kinematics. Median error in measured elbow joint angle within one session ranged from 3 to 5°. Between sessions median absolute differences in measured elbow joint angle ranged from 4 to 13°, with measurement errors of up to 25 to 30° in some participants at the fastest velocity (V3). The therapist was able to apply three significantly different angular velocities as required for the Tardieu scale (p<0.001). However, the ranges of the three angular velocities overlapped, with fast velocities for some participants being equivalent to slow velocities for other participants. Three out of 10 participants had an intersessional difference in their R2–R1 score of more than 20°. From this study, we concluded that the R2–R1 value determined from the modified Tardieu scale may be of limited value in assessing biceps spasticity the upper limbs in children with hemiplegic CP.

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.

Between 1 and 4% of the populations of developed nations are diagnosed with learning disability. In Australia, an estimated 1.9% of the population exhibit learning disability either as a primary disability or as a secondary condition, and approximately half of these people require continuing support in daily living, including mobility, self-care, and socialization. After improvements in basic public health measures, life expectancy in most developed nations increased over the course of the 20th century, and this trend included people with learning disability. Thus, by the end of that century, the survival estimates for people with mild learning disability living in developed countries was 70 years, and nearly 60 years of age for those with severe learning disability.