Physical fitness, everyday physical activity, and fatigue in ambulatory adults with bilateral spastic cerebral palsy.

This study assessed physical fitness and its relationships with everyday physical activity (PA) and fatigue in cerebral palsy (CP). Participants were 42 adults with ambulatory bilateral spastic CP (mean age 36.4 ± 5.8 years; 69% males; 81% with good gross motor functioning). Progressive maximal aerobic cycle tests determined VO(2peak) (L/min). Objective levels of everyday PA were measured with accelerometry and self-reported levels of everyday PA with the Physical Activity Scale for Individuals with Physical Disabilities. Fatigue was assessed with the Fatigue Severity Scale. The average aerobic capacity of adults with CP was 77% of Dutch reference values. Participants were physically active during 124 min/day (85% of Dutch reference values), and half experienced fatigue. In women, lower physical fitness was related to lower self-reported levels of PA (R(p)=0.61, P=0.03), and in men to higher levels of fatigue (R(p)=-0.37, P=0.05). Other relationships were not significant. Results suggest that ambulatory adults with CP have low levels of physical fitness, are less physically active than able-bodied age mates and often experience fatigue. We found little evidence for relationships between the level of physical fitness and everyday PA or fatigue.

The 18 p-syndrome. Report of four cases.

Four children, two girls and two boys, were found to have a short arm deletion of chromosome No. 18. Three of them exhibit a typical dysmorphy of the face showing retraction of the midface, broad-based, flat nose, hypertelorism, epicanthus, "carp mouth", big, protruding, and low set ears, as well as a variable number of Turner-like features, failure of growth, mental retardation, and muscular hypotonia. A newly born child, who died at 2 days of age exhibited severe brain defects of holoprosencephalic series. The clinical and cytogenetic findings are compared with the reviewed data of the 18 p deletion. The hypothesis of "gene-dosis compensation" is discussed in order to explain the variable phenotypical expression of 18 p-syndrome as there is obviously to correlation between the extent of the deficiency and the expression of malformations.