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Background: Bilateral perisylvian polymicrogyria (BPP) is a well-recognized malformation of cortical development commonly associated with epilepsy, cognitive impairment, and oromotor apraxia. Reports have suggested the association of BPP with arthrogryposis multiplex congenita. We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone., Methods: Cases of BPP with congenital arthrogryposis were identified from a large research database of individuals with polymicrogyria. Clinical features (including oromotor function, seizures, and joint contractures), MR brain imaging, and results of neuromuscular testing were reviewed., Results: Ten cases of BPP with congenital arthrogryposis were identified. Most cases had some degree of oromotor apraxia. Only a few had seizures, but a majority of cases were still young children. Electrophysiological studies provided evidence for lower motor neuron or peripheral nervous system involvement. On brain imaging, bilateral polymicrogyria (PMG) centered along the Sylvian fissures was seen, with variable extension frontally or parietally; no other cortical malformations were present. We did not identify obvious neuroimaging features that distinguish this syndrome from that of BPP without arthrogryposis., Conclusions: The clinical and neuroimaging features of the syndrome of BPP with congenital arthrogryposis appear similar to those seen in cases of isolated BPP without joint contractures, but electrophysiological studies often demonstrate coexistent lower motor neuron or peripheral nervous system pathology. These findings suggest that BPP with arthrogryposis may have a genetic etiology with effects at two levels of the neuraxis., (Copyright 2009 Elsevier B.V. All rights reserved.)

The aim of this study was to assess the development of postural control in the prone position in children with spastic diplegia and triplegia, and determine the influence of clinical characteristics, visual acuity and cognitive performance on that development. We also analysed the relation between these early motor achievements in the prone position and the subsequent acquisition of motor competence in the sitting position. We followed 24 diplegic and triplegic children from before age 2 years (mean age 12 months) to mean age 41 months, videorecording motor behaviour every six months and abstracting acquisitions in alignment and balance using a standardised procedure. We confirm a developmental sequence of all the acquired movements in the prone position. 83.3% of the children completed the uprighting sequence in the sagittal plane, acquired good balance, and ability to rotate the head and trunk. 70.8% of the children (all but one of the diplegic children and none among triplegic children) acquired symmetric posture in the frontal plane and 83.3% reduced leg hyperextension. Development was not uniform, and at 12-18 months two groups began to emerge: diplegic children who rapidly achieved all or most of the steps in the sequence and had a favourable prognosis for subsequent motor development; and triplegic children who achieved these steps at a much slower rate or in some cases not at all and had a less favourable prognosis for future development. Diplegic children with normal visual acuity, and general quotient GQ>70 did better than triplegic children with compromised visual acuity and GQ<70. Acquisition of the full uprighting sequence in the prone position before the age of two related to the later acquisition of autonomous sitting.

In a prospective study the intellectual development of 20 premature children affected by spastic diplegia was compared with that of 10 preterm low-risk children. The assessment was carried out with the Griffiths scale at the age of 3 years and with the WPPSI scale at the age of 6 years. The analysis of data collected in the 2 psychometric evaluations of the preterm-born diplegic children showed a disharmonic profile of neuropsychological functions, already present at the age of 3 years and confirmed at the age of 6 years. The average scores in diplegic children were poorest in the subscales locomotor, eye-hand coordination, and performance on Griffiths scale, and in the performance subtests of the WPPSI scale. The mean scores of subscales for hearing and speech, and practical reasoning on the Griffiths scale and of the verbal subscale of the WPPSI were near to the lower range of the normal distribution. Significant differences in performance subtests were found between the groups of preterm diplegic children and the group of low-risk preterm children, both at 3 and 6 years of age.