Feeding difficulties, vomiting and recurrent chest infections associated with poor growth and nutrition are common in children with cerebral palsy (CP). However, the role of gastrooesophageal reflux as a possible cause has been little studied. We therefore investigated 23 children with cerebral palsy (median age 2.3 years, range 0.6-11.8) whose symptoms were consistent with gastrooesophageal reflux (severe feeding difficulties 70%, failure to thrive 52%, anaemia 31% and recurrent chest infections 31%). Using 24-hour ambulatory oesophageal pH monitoring, we determined the relationship between gastrooesophageal reflux and: (a) developmental age (Griffith's scales); (b) feeding behaviour skills score; (c) nutritional status and (d) clinical assessment of cerebral palsy (type and severity). Abnormal gastrooesophageal reflux (i.e. reflux index > 5%) was detected in 16 (70%) patients (median reflux index 11.4%; range 5.4-59%). Reflux was unrelated to chronological or developmental age, but there was a significant, unexplained association with male gender (P < 0.01). No correlation was found with feeding behaviour skills score, malnutrition (which was commonly severe) and type and severity of cerebral palsy. We conclude that gastrooesophageal reflux is common and should be sought in symptomatic, neurologically handicapped children as effective treatment is likely to improve quality of life.

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Summary Three new cases of Menkes' kinky‐hair syndrome are presented. In each case the diagnosis was confirmed biochemically, but light microscopy failed to demonstrate the characteristic hair changes. However, when scanning electron‐microscopy was used, pili torti and trichorrhexis nodosa were seen clearly in the samples taken from each case. In addition, monilethrix, a change noted in other reports, was seen to be an optical effect produced at the point of a twist. Hair samples were obtained from female relatives of the three affected families and were similarly examined. Changes indicative of carrier status were observed in two of the three mothers and also in a normal sister and half‐sister. RESUME Syndrome de Menkes (trichopoliodystrophie): emploi de microscope électronique à balayage dans le diagnostic et lcar;identification des porteuses Trois nouveaux cas du syndrome de cheveu‐casse de Menkes sont analyés. Dans chaque cas, le diagnostic a été confirmé biochimiquement, mais le microscope optique n'a pu réveler les modifications caractéristiques des chevaux. En revanche, lorsque le microscope électonique à balayage fut utilisé il a été possible d'observer très clairement dans chaque échantillon le ‘pili torti’ et le ‘trichorrhexis nodosa’. Par ailleurs, le ‘monilethrix, modification notee dans d’autres articles, s'est révélé un effet optique produit par unpoint de torsion. Des échantillons de cheveu ont été obtenus chez des femmes parentes dans trios families atteintes et ont étéégalement examinés. Les modifications caractéristiques des porteuses ont été observées chez deux des trois mères et chez une soeur et une demi‐soeur normale. ZUSAMMENFASSUNG Menkes Syndrom (Trichopoliodystrophie): Die Anwendung des Scanner Elektronenmikroskopes bei der Diagnose und Trägeridentifizierung Es wird über drei neue Fälle des Menkes ‘kinky‐hair’ Syndroms berichtet. In jedem Fall wurde die Diagnose biochemisch bestätigt; im Lichtmikroskop konnten die typischen Veranderungen am Haar nicht gesehen werden. Benutzte man aber das Scanner Elektronenmikroskop so konnten bei den Haarproben einesjeden Falles gedrehte Haare und die Kaposische Knotenkrankheit der Haare deutlich nachgewiesen werden. Auβerdem fand man heraus, daβ das Spindelhaar, eine Veränderung, die in anderen Arbeiten erwähnt wurde, durch einen optischen Effekt am Punkt einer Drehung entsteht. Bei den weiblichen Verwandten der drei betroffenen Familien wurden Haarproben entnommen und in ähnlicher Weise untersucht. Bei zwei der drei Mütter, sowie bei einer gesunden Schwester und einer Halbschwester wurden Veränderungen gefunden, diedarauf hinweisen, daβ es sich um Erbträger handelt. RESUMEN Síndrome de Menkes (tricopoliodistrofia): la utilización de microscópico eléctrónico con scanning en el diagnóstico de la identificación de los portadores Se presentan tres neuvos casos de sindrome de Menkes con cabello retorcido (kinky‐hair). En todos los casos el diagnostico se confirmó bioquimicamente, pero el microscopio óptico no fué capaz de demostrar las characterísticas ...

Cytogenetic studies have been carried out on a series of nine girls with Rett syndrome, six of their mothers and nine normal female controls. No abnormality of the X‐chromosome has been observed in any subject. X‐inactivation studies using various methods of detecting the timing of individual band replication were performed. The overall pattern seen was essentially the same in all subjects, but in the patients with Rett syndrome there may be an alteration in the timing of the X‐inactivation process in the region Xp11.3 or 4→Xp21.