Idiopathic generalized epilepsies account for about 40% of epilepsy up to age 40 and commonly have a genetic basis. One type is benign familial neonatal convulsions (BFNC), a dominantly inherited disorder of newborns. We have identified a sub-microscopic deletion of chromosome 20q13.3 that co-segregates with seizures in a BFNC family. Characterization of cDNAs spanning the deleted region identified one encoding a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KQT-like class of potassium channels. Five other BFNC probands were shown to have KCNQ2 mutations, including two transmembrane missense mutations, two frameshifts and one splice-site mutation. This finding in BFNC provides additional evidence that defects in potassium channels are involved in the mammalian epilepsy phenotype.

We have studied the causes and outcome of obstetric brachial plexus palsy in all children born in Malmö during the 10-year period 1973-1982. Forty-eight of 25,736 live-born children (0.19%) were neonatally diagnosed as having a brachial plexus paresis. Twenty-five percent of these, i.e., one child in 2,000 liveborn, had a persistent palsy. The obstetric history was characterized by high birthweight, vertex presentation with shoulder dystocia and multiparity; and in two cases the mother had two children with brachial palsy. The children who recovered totally did so during the first few months. The prognosis for the more common upper brachial plexus, or Erb's, was more favorable than that for entire brachial plexus palsy. All the children with persistent palsy were afflicted with considerable reduction in arm function, resulting in varying degrees of handicap, such as not being able to use the palsied arm at all or not being able to perform certain tasks--writing properly, playing a musical instrument, doing the hair, wearing clothing with shoulder straps, etc. We wish to point out that, in several cases, obstetric brachial plexus palsy results in a lifelong handicap and that prevention and therapy are essential both in obstetric and in pediatric management.

Measure of Processes ofGeneral rights Copyright and moral rights for the publications made accessible in the public portal are retained by the authors and/or other copyright owners and it is a condition of accessing publications that users recognise and abide by the legal requirements associated with these rights.• Users may download and print one copy of any publication from the public portal for the purpose of private study or research.• You may not further distribute the material or use it for any profit-making activity or commercial gain • You may freely distribute the URL identifying the publication in the public portal Take down policy If you believe that this document breaches copyright please contact us providing details, and we will remove access to the work immediately and investigate your claim. AbstractAim To evaluate the instrument Measure of Processes of Care (MPOC) in a Swedish context. Methods The MPOC consists of 56 questions in the five scales: enabling and partnership; providing general information; providing specific information about the child; co-ordinated and comprehensive care; and respectful and supportive care. The questionnaire was translated into Swedish and distributed to 850 families, served by four habilitation centres. After two reminders, a response rate of 74.9% was obtained, and about 60% of the questionnaires qualified for further statistical analysis. Reliability, calculated as Cronbach's alpha, was high for four of the five scales and acceptable for the fifth (scale no. 3). Results Significant differences were shown between centres as well as between age groups. These differences were reasonable as judged through background knowledge, indicating that the instrument was able to discriminate between actual differences in services. Commenting on the practical use of the questionaire, staff, as well as responding parents, found the questionnaire rather long and some parents reported difficulties in giving answers as specific as the questionnaire asked them to. Conclusion The MPOC shows sufficient sensitivity to be used as an evaluation tool for services at a centre or program level, and can be recommended for research and practical use.

Measurements of fetal aortic blood flow velocity and fetal growth were performed in 178 pregnancies. In 87 cases, the estimated fetal weight was > or = 2 SD below the gestational age-related mean of the population. Three fetuses died in utero. In 149 children (85%), a neurological examination was performed at 7 years of age with special emphasis on minor neurological dysfunction. The frequency of the more severe form of minor neurological dysfunction, MND-2, was higher in the group with blood flow class (BFC) III (absent or reversed end-diastolic flow velocity (8/21) than in the group with BFC 0 (normal velocity waveform) (14/105). Logistic regression analysis revealed that abnormal blood flow class, both independently and in combination with other factors, was the most significant predictor of MND-2. The association found between abnormal fetal aortic velocity waveforms and adverse outcome in terms of minor neurological dysfunction suggests that hemodynamic evaluation of the fetus has a predictive value regarding postnatal neurological development.

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