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).

During a discussion at the autumn 2005 DMCN Editorial Board meeting, I mentioned that prior to becoming a doctor I worked as an engineer analyzing nuclear weapons' testing data. After the meeting, Dr Jean-Pierre Lin suggested, that in the current world climate, I write an editorial on how I intellectually and morally underwent a metamorphosis from an expert in high atmospheric nuclear physics to a specialist surgeon in the care of children with disabilities. I feigned interest but brushed it off in my own mind as quickly as possible. I have always had, and continue to have, the greatest respect for the men and women who wear the military and civilian uniforms of our nations. Furthermore, my work was done more than 25 years' ago and is now, no doubt, relegated to obscure government reports and possibly doctoral theses.

Cortical visual impairment (CVI) is now the most common cause of visual impairment in children. Little is known about the long-term visual outcome. This study evaluates the outcome of children with congenital CVI. Using medical records, 423 children (225 males, 198 females) were identified with congenital CVI. Of these children, 259 had follow-up visual acuity assessments. The children's gestational age varied with 32 weeks or less representing 15.9%; 33 to 36 weeks representing 10.7%; 37 to 42 weeks representing 61.2%; and 43 weeks or greater representing 0.9% (11.3% of patients' gestational age was unrecorded). Clinical data were extracted and information regarding outcome was gathered. The majority of children showed improvement in their visual acuity levels after 2 or more years of follow-up. For the 194 children initially assessed before 3 years of age, 97 had improved, 75 were unchanged, 18 had deteriorated, and 4 had sub-optimal assessments. For the 74 children initially assessed at 3 or more years of age, 23 had improved, 44 remained unchanged, 3 had deteriorated, and 4 had sub-optimal testing. Children with better visual acuity levels at follow-up were more likely to have favourable cognitive outcomes (non-mental retardation) in 12.2% versus 2.8% (p<0.01). Similarly, favourable motor outcomes (independent ambulation) were present in 20.1% for those with better visual acuities versus 7.9% for those with poorer visual acuities (p<0.01). Our study demonstrates that the majority of children with CVI underwent improvement in visual acuity. Additional disabilities were common, but those children with better visual acuity outcomes faired better. Given the frequency of comorbid conditions, appropriate diagnostic assessment services are needed.

Scoliosis affects 75 to 90% of patients with non-ambulant Duchenne muscular dystrophy (DMD). Spinal surgery is the treatment of choice but the indication varies among centres. Some offer surgery to all non-ambulant patients, irrespective of scoliosis severity. Early surgery has the advantage of targeting DMD when cardiorespiratory function is preserved, but not all patients develop scoliosis. We report our 10-year experience of scoliosis management in 123 patients with DMD who were at least 17 years old at the time of the study. Scoliosis was absent in 10%, and mild, non-progressive (at least 30°) in 13% of patients. Another 13% had moderate scoliosis (31–50°) and were managed conservatively. Surgery was considered in 57% (70/123) of patients with scoliosis greater than 50° and eventually performed in 35%. The remaining patients either refused surgery (9%) or were unfit because of cardiorespiratory compromise (13%). In a further 7%, scoliosis (greater than 50°), first noted after 14 years of age, was progressing slowly and surgery was not performed. At 17 years there was no difference in survival, respiratory impairment, or sitting comfort among patients managed conservatively or with surgery. One-third (44/123) of our patients were managed satisfactorily without receiving spinal surgery. We provide insight into the natural history of scoliosis in DMD that should help families and clinicians with decision-making when surgery is considered.

Executive functions (EFs), seizure-related factors, and school performance were studied in a population-based sample of children with epilepsy (n=117; 71 males, 46 females; mean age 10y 5mo [SD 2y]; range 6y–12y 11mo) and a comparison group (n=124; 71 males, 53 females; mean age 10y 1mo [SD 2y 1mo]; range 6y–12y 11mo). EF, cognitive function, depression, socioeconomic status, and school performance were examined. Patients with epilepsy performed significantly lower than the comparison group on all EF measures except incidental memory. Intellectual dysfunction and depression accounted for 43% of EF problems. All epilepsy syndrome groups (except Rolandic epilepsy) were associated with decreased EF in addition to early epilepsy onset, high seizure frequency, and polytherapy. Patients had more school performance problems than comparison children which were attributed partly to EF difficulties. All aspects of EF were affected in children with epilepsy and all epilepsy syndrome groups, except Rolandic epilepsy, influenced EF negatively. EF problems contributed to patients' school difficulties beyond intellectual dysfunction.

An 8-year-old female presented with a distinct clinical course characterized by an acute self-limiting chorea-encephalopathy with cerebrospinal fluid (CSF)-specific oligoclonal bands. During the clinical course, genomic human parvovirus B19 DNA was detected in her serum and CSF. It was concluded that this patient represents the first published case of childhood chorea-encephalopathy associated with, and probably caused by, human parvovirus B19 infection.

‘Low doses of pamidronate to treat osteopenia in children with severe cerebral palsy: a pilot study’ Plotkin et al. DMCN Vol 48: 709–712

We would like to correct an error that was printed in the above mentioned article: p 711: The sentence ‘Ionized calcium levels in those three cases were 1.01, 1.09, and 1.11mg/dl respectively.’ should have read: ‘Ionized calcium levels in those three cases were 1.01, 1.09, and 1.11mmol/l respectively.’

We sincerely apologize for this error.

A subgroup of autosomal recessive cerebellar ataxias (ARCAs) associated with oculomotor apraxia (OMA) and other variable features has been reported. Ataxia–oculomotor apraxia types 1 and 2 (AOA1 and AOA2) belong to this subgroup and have been described in adults with early onset cerebellar ataxia. AOA1 is associated with oculomotor apraxia, severe sensorimotor neuropathy, choreiform movements, cognitive impairment, and cerebellar atrophy at an early age. We describe a male child with AOA1 who is homozygous for the G837A (W279X) mutation in the APTX gene. He presented at the age of 3 years 6 months with some atypical features including absence of OMA, chorea, and cerebellar atrophy. These manifestations, in addition to peripheral neuropathy, appeared at 8 years of age. We highlight the importance of considering the diagnosis of AOA1 in children with early-onset cerebellar ataxia, once other well-known disorders such as Friedreich's ataxia and ataxia–telangiectasia have been excluded.

The aim of this review was to assess the effectiveness of therapy interventions on improving outcomes in children with cerebral palsy (CP) who have received botulinum toxin A (BTX-A) injections to either upper or lower limb muscles. We searched: the Cochrane Central Register of Controlled Trials; the electronic databases Medline, EMBASE, CINAHL, PEDro, SCI, and SSCI; websites of professional associations; and reference lists in trial reports and other relevant articles. We used studies on the effect of therapy on motor control, functional abilities, contracture, spasticity, and/or pain as the selection criteria. Methodological quality and the strength of evidence was assessed systematically by three independent raters using American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) guidelines. Twenty-four papers met the criteria for inclusion in the content analysis of evidence. Of these, only one randomized controlled trial was available, with results demonstrating that electrical stimulation postinjection did not enhance the effects of BTX-A on gait improvement (insufficient data provided to report size of effect). Remaining papers were of level II evidence (n=2), Level IV evidence (n=5), and level V evidence (n=14). We conclude that there is insufficient evidence to either support or refute the use of therapy interventions after BTX-A injections in children with CP.

A review of the measures relating to the monitoring of disease progression in Duchenne muscular dystrophy was undertaken as part of the work of the North Star Clinical Network for Paediatric Neuromuscular Disease Management developing a standardized assessment protocol for ambulant children in the UK. This article outlines the process of identifying possible measures. Detailed consideration has been given to key measures of muscle strength and function. As well as the usual assessment of the validity and reliability of the measures, three key characteristics were identified as necessary to the assessment of scales used in health care: (1) the type of scale used; (2) the clinical significance of the attribute being measured; and (3) the mathematical properties of the data provided. Consideration of such aspects in the early stage of a study facilitates the choice of measures, and the analysis and interpretation of data in the longer term.