No abstract

Two hundred and eleven patients with a clinical diagnosis of Turner syndrome were studied. We report (i) the cytogenetic results, (ii) the frequency of cryptic mosaicism and (iii) the parental age and the parental origin of the abnormality. We scored 100 cells from blood cultures and found 97 patients to have a 45,X constitution, 15 to be 45,X/46,XX or 45,X/47,XXX mosaics, 86 to have a structurally abnormal X and 13 to have a structurally abnormal Y chromosome. Molecular methods were used to look for cryptic X and Y chromosome mosaicism in patients with a 45,X constitution. Two cryptic X but no cryptic Y mosaics were detected. In 74% of the 45,X patients the X was maternal in origin. The i(Xq)s were approximately equally likely to involve the paternal or maternal chromosome, while the majority of deletions and rings and virtually all the abnormal Y chromosomes were paternal in origin. We suggest that the preponderance of paternal errors in Turner syndrome may result from the absence of pairing along the greater part of the XY bivalent during paternal mei I, which may make the sex chromosomes particularly susceptible to both structural and non-disjunctional errors during male gametogenesis.

The Schedule for Oral Motor Assessment (SOMA) was developed to record oral-motor skills objectively in infants between ages 8 and 24 months postnatal. Its aim is to identify areas of dysfunction that could contribute to feeding difficulties. The procedure takes approximately 20 min to administer, and is intended to be rated largely from a videorecording of a structured feeding session. A series of foodstuffs of varying textures, including liquids, is presented to the child in a standardized manner. Oral-motor skills are evaluated in terms of discrete oral-motor movements. The schedule distinguishes these from skills at more aggregated levels of functioning such as jaw, lip, and tongue control. A total of 127 children have been studied with the instrument, including normal healthy infants and samples with nonorganic failure to thrive, and cerebral palsy. Interrater and test-retest reliabilities were determined on a subset of 10 infants who each took part in three trials rated by 2 therapists. Excellent levels of interrater reliability (kappa > 0.75) were obtained for the presence/absence of 69% of discrete oral-motor behaviors. Test-retest reliability was similarly excellent for 85% of ratable behaviors. For the first time an assessment of oral-motor functioning has been shown to have adequate reliability for children aged 8-24 months. The validation of the SOMA on a large sample of normally developing infants and its application to clinical groups is presented in an accompanying paper [1].

SUMMARY The nature and extent of feeding difficulties associated with cerebral palsy was assessed in 12 infants with moderate to severe oral‐motor dysfunction, compared with a control group. Data were gathered at the infants' homes by interview and by direct observation of mealtimes. The results revealed a range of long‐standing problems, for which little management advice had been given. Most case infants were poorly positioned; specially designed seats were not used. The mean duration of mealtimes for case and comparison infants did not differ significantly. Case infants ate and were offered less food than the control infants. Feeding problems usually had persisted since birth and were associated with marked failure to thrive. Multidisciplinary assessments of the severe feeding difficulties of these children are indicated. RÉSUMÉ Caractéristiques et prise en charge des problèmes d'alimentation chez les jeunes enfants présentant des troubles moteurs d'origine cérébrale La nature et l'importance des difficultés d'alimentation associés à des troubles moteurs d'origine cérébrale ont été appréciées chez 12 nourrissons présentant une dysfonction oro‐motrice de modérée à sévère, et comparées avec un groupe contrôle. Les données ont été recueillies au domicile des nourrissons par entrevue et observation directe des repas. Les résultats ont révélés des problèmes variés et datant de longtemps, et pour lesquels peu d'avis avaient été donnés. La plupart des nourrissons étaient mal installés; les sièges spéciaux n'étaient pas utilisés. La durée moyenne des repas ne différait pas significativement entre index et contrôles. Les nourrissons index mangeaient moins et se voyaient offrir moins de nourriture que les contrôles. Les problèmes d'alimentation dataient habituellement de la naissance et étaient associés à une insuffisance d'évolution pondérale. Une évaluation multidisciplinaire des difficultés d'alimentation sévéres chez ces enfants est indiquée. ZUSAMMENFASSUNG Charakteristika und Handhabung von Fütterungesproblemen bei Kleinkindern mit Cerebralparese Bei 12 Kindern mit mittelschweren bis schweren oralmotorischen Funktionsstörungen wurden Art und Ausmaß von Fütterungsschwierigkeiten im Zusammenhang mit einer Cerebralparese untersucht und mit einer Kontrollgruppe verglichen. Die Daten wurden bei den Kindern zu Hause durch Interview und direkte Beobachtung der Mahlzeiten erhoben. Die Ergebnisse zeigten eine Reihe von lange bestehenden Problemen, für die wenig Hilfen zur Handhabung gegeben worden waren. Die meisten Kinder waren schlecht gelagert, Spezialsitze wurden nicht verwendet. Die mittlere Dauer der Mahlzeiten zeigte bei Patienten und Kontrollen keinen signifikanten Unterschied. Die Patienten aßen weniger und bekamen weniger angeboten als die Kontrollen. Die Ernährungsprobleme bestanden in der Regel seit der Geburt und waren von erheblichen Gedeihstörungen begleitet. Die schweren Ernährungsprobleme bei diesen Kindern müssen dringend interdisziplinär untersucht werden. RESUMEN Caracteristicas y manejo de los problema...