This study compared adolescents with cerebral palsy (CP) and their families to adolescents without physical disabilities and their families as the child enters and leaves adolescence (age ranges 13 to 15 years and 19 to 23 years). Families of 90 individuals with CP (42 females, 48 males) and 75 individuals without physical disabilities (34 females, 41 males) participated. They completed the Family Assessment Device, Life Situation Survey, Multidimensional Scale of Perceived Social Support, and Future Questionnaire. There were few differences in family functioning, life satisfaction, or perceived social support between the groups. Expectations of young adults with CP and parents of both adolescents and young adults regarding future independence and success were lower than the expectations of the control group. While the group results emphasize similarities between families during the two stages of adolescence, individual families and individual family members report specific challenges.

The prevalence of autistic disorder was analysed in 25 individuals with Möbius sequence, a disorder with brain-stem dysfunction. The sample consisted of 18 males and seven females (20 participants were aged 2 to 22 years, and five were aged 1, 19 and 23 months, and 55 years old). Participants were recruited after a nationwide call and were part of a multidisciplinary study of individuals with Möbius sequence. They were given a meticulous neuropsychiatric examination including standardized autism diagnostic interviews. Ten individuals had an autistic spectrum disorder. Six of these met all diagnostic criteria for autism. In 23 individuals cognitive development could be assessed. Eight of those 23 patients had clear learning disability and six individuals were functioning in the normal but subaverage range. Autistic spectrum disorder and learning disability occurred in more than a third of the examined patients. Considering the hospital-based nature of the sample, these findings may be overestimates. Nevertheless, awareness of this coexistence is important in the diagnosis and habilitation care of children with Möbius sequence. Moreover, the results provide further support for the notion of a subgroup of autistic spectrum disorders being caused by first trimester brain-stem damage.

Social integration and independence is the ultimate goal of habilitation and social support for patients with cerebral palsy (CP). Having a partner and having children provide support for social integration of adults with or without a disability. We studied 416 participants with CP born between 1965 and 1970 (243 males, 173 females; mean age 32y 2mo [SD 2y]; age range 29–35y) and compared them with 2247 age-matched comparison individuals. Diagnostic subtypes of the 416 participants were: 31% hemiplegia, 49% diplegia, 11% tetraplegia, and 9% other types. The level of motor impairment, estimated in childhood, with regard to walking ability was 65% able to walk without assistance, 22% with assistance, and 12% not able to walk (for 1% of the participants their walking ability was not known). We found no sign of increased social integration over the past two or three decades in Denmark. Sixty-eight per cent lived independently, 13% lived with their parents, and 16% lived at an accommodation facility arranged by the county (institution). Twenty-eight per cent of the participants were cohabiting and 19% had children. The presence of epilepsy and the severity of physical or cognitive impairment as assessed in childhood predicted independent living and physical and cognitive impairment predicted cohabitation, but parents' socioeconomic position and region of living did not. Fifty-five percent of the participants, compared with 4% of the comparison group, had no competitive employment, cohabiting partner, or biological children. The remaining participants had at least one of these types of social contact, but this more optimally socially integrated half of the participants only combined all three types of social contact half as often as the comparison group. This could be due to cognitive difficulties or premature ageing.

This study examined whether major congenital structural anomalies identified in infancy occurred more frequently in children later diagnosed with autism spectrum disorders (ASD; n=417; 341 males, 76 females) than in comparison children (n=2067; 1681 males, 386 females). Participants were sampled from infants born at Kaiser Permanente Northern California facilities between 1995 and 1999 who remained health plan members for at least 2 years (n=88 163). Comparison children were frequency-matched to children with ASD according to sex, birth year, and birth hospital. Congenital anomalies were diagnosed in 10.8% of children with ASD and 6.2% of comparison children (crude odds ratio [ORc] 1.8, 95% confidence interval [CI] 1.3–2.6). This association remained significant after adjustment for key maternal and infant covariates (adjusted OR [ORa] 1.7, 95% CI 1.1–2.4). Almost all organ-system anomaly categories were more prevalent in children with ASD, however only gastrointestinal anomalies were significantly associated with ASD in adjusted analyses (1.9 vs 0.4%, ORa 5.1, 95% CI 1.8–14.1).

Forty-seven children with non-organic failure to thrive (NOFT) were identified from a whole-population survey of children's growth and development. A significant proportion (N=17) of these 47 children were found to have oral-motor dysfunction (OMD) identified using a previously validated assessment tool. NOFT children with OMD and those with normal oral-motor function (N=30) were compared in order to ascertain whether there were any neurodevelopmental differences which might explain this finding. We hypothesized that children with OMD might have a subtle neurodevelopmental disorder. Few psychosocial variables discriminated the two groups. However, cognitive stimulation within the home and cognitive-growth fostering during mealtimes was much poorer for children with OMD. Some evidence has suggested that NOFT children with OMD may be ‘biologically’ more vulnerable from birth. We suggest that the continued use of the term ‘non-organic’ to describe failure to thrive in such children is questionable and requires redefining.

Virtual reality (VR) therapy is a new, neurorehabilitation intervention aimed at enhancing motor performance in children with hemiparetic cerebral palsy (CP). This case report investigated the effects of VR therapy on cortical reorganization and associated motor function in an 8-year-old male with hemiparetic CP. Cortical activation and associated motor development were measured before and after VR therapy using functional magnetic resonance imaging (fMRI) and standardized motor tests. Before VR therapy, the bilateral primary sensorimotor cortices (SMCs) and ipsilateral supplementary motor area (SMA) were predominantly activated during affected elbow movement. After VR therapy, the altered activations disappeared and the contralateral SMC was activated. This neuroplastic change was associated with enhanced functional motor skills including reaching, self-feeding, and dressing. These functions were not possible before the intervention. To our knowledge, this is the first fMRI study in the literature that provides evidence for neuroplasticity after VR therapy in a child with hemiparetic CP.

The aim of this study was to determine whether botulinum toxin A (BTX-A) injected into the parotid and submandibular salivary glands of children aged 6 to 16 years with cerebral palsy (CP) and relative sialorrhoea significantly decreases their drooling and improves their quality of life. Twenty children (10 males, 10 females; mean age 10y 1mo [SD 3y 8mo]; range 6y 1mo–16y 7mo) with CP, identified as having significant daily drooling (scoring at least 6 on drooling frequency/severity scales) were recruited. BTX-A (2U/kg; maximum 70U) was injected under sedation, using ultrasound guidance (1.4U/kg and 0.6U/kg divided between parotid and submandibular glands respectively). Nineteen children completed the study: 15 with spastic quadriplegia (Gross Motor Function Classification System [GMFCS] Level V); one with dystonia (GMFCS Level V); one with hemiplegia (GMFCS Level II); and two with a mixed pattern of CP (GMFCS Levels III and V). Drooling was assessed by five methods at baseline, and 4 and 12 weeks after injection. Qualitative assessment of drooling frequency and severity scores showed statistically significant reductions at 4 weeks (p<0.001) and 12 weeks (p=0.006). Qualitative assessment of quality of life scores (rated by parents and teachers separately) also significantly improved (p<0.001 and p=0.023 respectively). Quantitative assessments showed that the number of bibs/scarves changed per day was significantly reduced at 4 weeks (p<0.001). There was no side effect from the injections themselves; 89% of parents and children wished for further intrasalivary BTX-A injections in the future. We conclude that percutaneous intrasalivary BTX-A injections into the parotid and submandibular salivary glands can reduce drooling in children with CP and relative sialorrhoea, leading to an improvement in their quality of life.

This paper examines ethnic differences in the attainment of developmental milestones during infancy and possible explanations for observed differences are investigated. Data from the first survey of the Millennium Cohort Study (n=15 994; 8212 males, 7782 females; mean age 9.2mo [SD 0.5]) were examined. We found that Black Caribbean (odds ratio [OR]=0.23, 95% confidence interval [CI]=0.11–0.48), Black African (OR 0.31, 95% CI 0.18–0.55), and Indian (OR 0.55, 95% CI 0.33–0.93) infants were less likely to show delay in the attainment of gross motor milestones compared with White infants after adjustment for a range of explanatory variables. Pakistani and Bangladeshi infants were more likely to have delays in fine motor development (OR 1.69, 95% CI 1.21–2.35 and OR 2.17, 95% CI 1.17–4.02 respectively) and communicative gestures (OR 4.19, 95% CI 1.47–11.94 and OR 7.64, 95% CI 3.96–14.76 respectively), but these differences were explained by socioeconomic factors and markers of cultural tradition. In conclusion, unexplained ethnic differences were seen in the attainment of gross motor milestones, with Indian, Black Caribbean, and Black African children less likely to be delayed (in adjusted models). Increased likelihood of fine motor and communicative gesture delays among Pakistani and Bangladeshi infants, that disappear when socioeconomic factors are taken into account, point to the need to address deprivation among these groups to reduce the likelihood of developmental delay and possible longer term behavioural and cognitive problems and consequent opportunities throughout life.

The rate of autism spectrum disorders (ASDs) and brain abnormalities was analyzed in 31 individuals (15 males, 16 females; age range 1mo to 31y, mean age 8y 11mo) with CHARGE association, as part of a multidisciplinary study. A meticulous neuropsychiatric examination was performed, including standardized autism diagnostic interviews. Judgement regarding ASDs was impossible in three infants and three patients who were deaf and blind. Five individuals met diagnostic criteria for autism, five for an autistic-like condition, and seven for autistic traits. Brain abnormalities were indicated in almost three-quarters of examined individuals, and midline abnormalities of the forebrain in one-third. Awareness of the coexistence of CHARGE and ASDs is important in habilitation care in CHARGE. Moreover, the results indicate that a subgroup of ASDs may be associated with errors in early embryonic brain development.

This study sought to describe change and stability in health-related quality of life (HRQL) over time in a cross-section of children with cerebral palsy (CP) using the Child Health Questionnaire (CHQ) through repeated surveys of the children's parents/caregivers. A total of 177 children with CP (98 males, 79 females); age range 3 to 18 years (mean age 8y 6mo, [SD 4y 2mo]; Gross Motor Function Classification System: Level I 40%, Level II 14%, Level III 14%, Level IV 16%, and Level V 17%) were enrolled as a convenience sample from the outpatient clinics at a tertiary-care children's hospital. The main outcome measure was HRQL as determined by the CHQ – Parent Form 50. Parents reported reduced HRQL for their children with CP relative to norms for the CHQ. Although Role – Physical functioning (reflecting how physical impairment interferes with daily activity) declined with time, all other subscales of the CHQ were stable over the course of 1 year. CHQ scores were not measurably affected by common medical interventions. Children with CP have lower CHQ scores than other children that are, on average, stable over the course of 1 year.

The aim of this study was to test the efficacy of low doses of pamidronate in increasing bone mineral density (BMD) in non-ambulatory children and adolescents with cerebral palsy (CP). Twenty-three non-ambulatory children and adolescents (12 females, 11 males; mean age 10y [SD 5y], range 4y 1mo–17y 11mo) with severe spastic quadriplegic CP and low BMD were recruited from a multidisciplinary clinic. Severity of CP was graded at Level IV (n=10) and Level V (n=13) using the Gross Motor Function Classification System. Patients received intravenous pamidronate (4.12mg/kg/y, maximum 45mg/d) every 4 months. Lumbar spine and femoral neck BMD were measured at baseline and after 4 and 12 months. Twelve months after the first dose of pamidronate there was a significant increase in lumbar spine and femoral neck BMD (p<0.01 for both sites) and z scores compared with baseline values (p<0.01 for both sites). Mean BMD z scores increased 1.6 points for femoral neck and 1.9 points for lumbar spine after 12 months of pamidronate treatment. Serum intact parathyroid hormone increased significantly and cross-linked N-teleopeptide of type I collagen decreased significantly at 12 months. No significant side effect was noted. Low doses of pamidronate are well tolerated and significantly increase BMD in non-ambulatory children and adolescents with CP.

Motor performance and movement quality were quantitatively examined (Zurich Neuromotor Assessment: timed motor performances and associated movements) in 87 prospectively enrolled very-low-birthweight (VLBW; <1250g) children (38 males, 49 females; mean birthweight 1016.2g [SD 141.5]:, range 720–1240g; mean gestational age 28.7wks [SD 2], range 25.7–33.4wks) at 6 years of age. All motor tasks were below the reference population: pure motor (median z-score) –0.46; adaptive fine motor (pegboard) –0.99; adaptive gross motor –0.88; static balance –0.48; and associated movements –1.90. All tasks correlated with the degree of neurological abnormalities (p[les ]0.004). VLBW children with no neurological abnormality also performed below the 10th centile and associated movements occurred more frequently than in the reference population (odds ratio 18, 95% confidence interval 6.7–47.9). Severity of periventricular leukomalacia and intraventricular haemorrhage assessed by ultrasound was associated with adaptive fine and gross motor tasks. We conclude that speed of motor performance and movement quality in particular were substantially impaired in VLBW children and are related to the degree of neurological abnormalities and neonatal cerebral injury.

This study examines whether a small head circumference (HC) and low head-circumference growth velocity (HGV) during the first year of life predict consequences at school age in learning, cognition, and concentration. A total of 124 extremely-low-birthweight (ELBW) infants (birthweight 500 to 999 g) born between 1977 and 1986 were eligible for follow-up at the corrected ages of 4, 8, and 12 months and 2, 4, and 6 years. Infants were categorized as having a small HC (<3% or 3 to 10%) on the basis of the 1990 British growth data which allowed standardized z-scores to be calculated for HC, independent of gestation and corrected age. HGV measurements were calculated using differences in the HC z-scores. In 1995, parents of 87 children agreed to participate in a study of learning and attention at school age. Attention-deficit–hyperactivity disorder (ADHD) was assessed using the Du Paul Rating Scale. Academic performances were based on a teacher questionnaire dealing with aspects of reading, writing, mathematics, and spelling. A child was considered to have a learning difficulty if academic problems were present in at least one of these four areas. Intellectual ability was assessed using the McCarthy Scale at 6 years. HC <3% and 3 to 10% at 8 months' corrected age was strongly associated with school-aged learning problems (P=0.004), with a moderate specificity (70%), positive predictive value (PPV) (67%), and sensitivity (67%). HGV [les ]10% from birth to 4 months was also associated with learning problems at school age (P=0.01) with a higher specificity (98%) and PPV (88%) but lower sensitivity (20%). A logistic regression analysis was performed with the risk for learning difficulties at 8 months as the dependent variable. Sex, gestation, birthweight, multiple births, and a history of intraventricular hemorrhage did not substantially alter the unadjusted odds ratio (4.7; 95% CI 1.9 to 13.6). Maternal age and education did not confound the relation. No association was found between HC or HGV and ADHD. HC <3% at 4 months (P<0.02), 8 months (P=0.02), and 12 months (P=0.04), and HGV between birth and 4 months (P<0.01) were significantly associated with low cognitive ability at 6 years.

botulinum toxin a (btx-a) is increasingly being used in early management of spasticity in ambulant children with cerebral palsy (cp), with the aim of improving function, promoting muscle growth, and delaying the need for surgical intervention. however, there is a lack of evidence about the long-term outcome of btx-a injections. the focus on spasticity as the predominant problem in younger children with spastic cp may not fully consider the associated muscle weakness. it also raises concern that although btx-a may improve function in the short term, it has the potential to affect muscle growth and function adversely in the long term. a cautious approach to the early use of btx-a, with the use of objective outcome measures within a specialized multidisciplinary setting, is recommended, particularly in ambulant children with spastic diplegic cp, until further evidence is available on the long-term outcome of early btx-a injections in children with cp.

The purpose of this study was to estimate striatal dopamine (D2) receptor availability in non-drug treated children with attention-deficit–hyperactivity disorder (ADHD) before and after methylphenidate therapy, and to examine correlations between severity of symptoms and response rates to stimulant medication with levels of striatal D2 receptor binding. Nine children (six males, three females; mean age 9.8 years, SD 2.3 years) with ADHD participated. All underwent iodobenzamide (123I IBZM) brain SPECT within 2 hours following intravenous injection of 123I IBZM before and 3 months after methylphenidate therapy. A semiquantitative approach was used to generate indices of specific D2 receptor binding in the basal ganglia. Specific binding ratios at baseline were higher than the previously reported specific binding values obtained in studies using young healthy adults. D2 availability reduced significantly (paired t-test, p<0.05) as a function of methylphenidate therapy in patients with ADHD in all four regions of the striatum. When the relation between therapy response and D2 availability was investigated, we observed that the higher the baseline D2 levels were, the higher the response rate was (detected as the percentage reduction of hyperactivity scores and Conners Teacher Rating Scale scores), while no such trend was observed between the initial D2 binding levels and the response in attention-deficit scores. Results indicate that in non-drug treated children with ADHD, higher D2 receptor availability is observed at baseline which is down-regulated back to reported near-normal values after methylphenidate therapy. The effect of methylphenidate on D2 receptor levels in patients with ADHD is similar to that observed in healthy adults; a down-regulation phenomenon within 0 to 30%. In addition, initially higher values of D2 availability seem to indicate better response to methylphenidate therapy in ADHD.

Three seizure types have been described in the neonate: electroclinical, electrographic, and clinical only. Controversy still exists about whether the episodic abnormal movements seen in some infants, which are not accompanied by simultaneous ictal discharges on the EEG, are true seizures. Twenty-four infants with seizures were studied, 17 had purely electrographic and/or electroclinical seizures, seven had clinical-only seizures; six of these seven had clonic seizures, without facial manifestations or autonomic change. The three seizure types were investigated using video-EEG and a Griffiths neurodevelopmental assessment was performed in each seizure group. Of the seven infants with clinical-only seizures, six had clonic seizures with a normal background EEG, neuroimaging studies and neurodevelopmental follow-up assessment were normal in five. In the remaining 17 infants with electrographic and/or electroclinical seizures, seizure discharges were often associated with ocular phenomena, apnoea, or tonic posturing, and the background EEG was abnormal in all but one subject. Neurodevelopmental follow-up assessments revealed a poor outcome(14 of 17) in this group. In otherwise healthy infants, purely clonic seizures involving only the limbs may be a benign phenomenon and an EEG should be obtained to avoid unnecessary treatment. Infants with seizures superimposed on an abnormal background EEG pattern had a poor outcome.

The underlying risk factors, presenting features, and outcome of 22 children with sacral agenesis and associated neuropathic bladder were studied retrospectively. The age of children at presentation was bimodally distributed, with peaks below 1 year and between 4 and 5 years of age. Ten patients presented after 1 year. The oldest was diagnosed at 12 years of age. In 12 children there was maternal diabetes, orthopaedic anomalies in 14, skin defects in 11, and anorectal/tracheooesophageal anomalies in three. Most children had persistent dribbling of urine on presentation associated with frequency, urgency, recurrent urinary tract infections, failure to respond to medication, and/or constipation. Twenty-one children had abnormal neurology in the lower limbs. Videourodynamics showed neuropathic vesicourethral dysfunction in all children and vesicoureteric reflux in 10. Nineteen had a history of urinary tract infections. Seven had renal scarring, with renal impairment in three at presentation. Clean intermittent catheterization was recommended for 20 of the children. Bladder or bowel surgery has been carried out in seven and neurosurgery performed in two. Twenty of the 22 children underwent operative procedures. Ten operations were performed before sacral agenesis was diagnosed. Over a third of the children have required psychological support. The combination of urinary symptomatology and any of the above risk factors should give rise to a high level of suspicion and low threshold to perform investigations to exclude sacral agenesis. All these children have abnormal bladder and urethral function which not only causes incontinence but puts the kidneys at risk. Early detection allows effective multidisciplinary input specifically aimed at continence, preservation of renal function, and adequate psychological support.

The study aimed to identify significant antenatal risk factors for cerebral palsy (CP) among extremely preterm infants with a matched case-control design. Infants born between 1989 and 1996 at 24 to 27 weeks' gestation who survived to hospital discharge were evaluated: 30 with a proven diagnosis of CP at 2 years corrected for prematurity and 120 control children matched for gestational age without CP. Information on maternal obstetric risk factors and medication was obtained. Matched analyses were performed and odds ratios (OR) and 95% confidence intervals (CI) were calculated. An antenatal diagnosis of intrauterine growth restriction was associated with an increased risk of CP (OR 6.6; 95% CI 1.8 to 25.2), while maternal administration of corticosteroids was associated with a reduced risk of CP (OR 0.4; 95% CI 0.1 to 0.98). A high rate of placental histopathology was achieved but no relation between clinical or histological chorioamnionitis or funisitis and CP was demonstrated. Maternal preeclampsia was not associated with a statistically significant reduction in the risk of CP. It is concluded that a reduced risk of CP in extremely preterm infants is associated with the antenatal use of corticosteroids.

The purpose of this study was to determine the effect clinically prescribed ankle–foot orthoses (AFOs) have on the temporal-spatial parameters of gait, as compared with barefoot walking in children with cerebral palsy. A retrospective chart review of data collected between 1995 and 1999 in our motion analysis laboratory was performed. A retrospective chart review of 700 patients revealed 115 patients (mean age 9 years) who had a primary diagnosis of CP (diplegia n=97, hemiplegia n=18). All were wearing clinically prescribed hinged or solid AFOs at the time of undergoing a three dimensional gait analysis. In line with our standard clinical practice, data for both conditions (braced and barefoot walking) were collected the same day by the same examiner. Statistical analyses indicated the temporal and spatial gait parameters of velocity, stride length, step length, and single limb stance were significantly increased (p<0.001) with the use of AFOs versus barefoot walking. Cadence was the only parameter found to not be statistically different.