Spastic quadriplegic cerebral palsy (SQCP) is a severe disability that is associated with abnormal physical activity, body composition, and food intake and with frequent malnutrition. This study examined the pattern of dietary intake, anthropometry, and energy expenditure in a group of subjects with SQCP aged 2-18 y and a normal control group. The energy expenditure pattern was determined from resting energy expenditure (REE, n = 61 SQCP; n = 37 control group) by using indirect calorimetry and from total energy expenditure (TEE, n = 32 SQCP; n = 32 control group) by using the doubly labeled water method. Physical activity, including the chronic spasticity of SQCP, was estimated from the ratio of TEE to REE. Abnormal growth and body composition were common and dietary intake was markedly overreported in the children with SQCP. Children with SQCP were divided according to body fat stores determined by triceps-skinfold-thickness measurements. The children with low fat stores had a lower REE adjusted for fat-free mass compared with the SQCP and control groups with adequate fat stores. TEE was significantly lower for the SQCP group than for the control group. The ratio of TEE to REE, indicating energy for nonbasal needs, was significantly lower in the SQCP children than in the control group, with the adequately nourished SQCP children having lower ratios than the more poorly nourished SQCP group. The nonbasal energy expenditure, such as for physical activity and spasticity, of children with SQCP was low. The nutrition-related growth failure and abnormal pattern of REE are likely related to inadequate energy intake.

The science of genetics is undergoing a paradigm shift. Recent discoveries, including the activity of retrotransposons, the extent of copy number variations, somatic and chromosomal mosaicism, and the nature of the epigenome as a regulator of DNA expressivity, are challenging a series of dogmas concerning the nature of the genome and the relationship between genotype and phenotype. According to three widely held dogmas, DNA is the unchanging template of heredity, is identical in all the cells and tissues of the body, and is the sole agent of inheritance. Rather than being an unchanging template, DNA appears subject to a good deal of environmentally induced change. Instead of identical DNA in all the cells of the body, somatic mosaicism appears to be the normal human condition. And DNA can no longer be considered the sole agent of inheritance. We now know that the epigenome, which regulates gene expressivity, can be inherited via the germline. These developments are particularly significant for behavior genetics for at least three reasons: First, epigenetic regulation, DNA variability, and somatic mosaicism appear to be particularly prevalent in the human brain and probably are involved in much of human behavior; second, they have important implications for the validity of heritability and gene association studies, the methodologies that largely define the discipline of behavior genetics; and third, they appear to play a critical role in development during the perinatal period and, in particular, in enabling phenotypic plasticity in offspring. I examine one of the central claims to emerge from the use of heritability studies in the behavioral sciences, the principle of minimal shared maternal effects, in light of the growing awareness that the maternal perinatal environment is a critical venue for the exercise of adaptive phenotypic plasticity. This consideration has important implications for both developmental and evolutionary biology.Keywords: behavior genetics; developmental biology; evolutionary developmental biology; epigenetics; evo-devo; gene association studies; genetics; heritability; maternal effects; phenotypic plasticity; stochasticity; twin studies A paradigm shiftIt is one of the aims of any scientific discipline to construct models that will account for as many observations as possible within a coherent framework. These models, and the framework of which they are a part, constitute a scientific paradigm. A paradigm commonly includes a set of dogmas, or key assumptions concerning both the nature of certain phenomena and the methodologies employed to study them that are never doubted as long as the paradigm appears to work well. The history of science, as it turns out, is a history of overturned dogmas and supplanted paradigms (Kuhn 1970). The discovery of new phenomena -anomalies -that appear to violate a central dogma or dogmas -perhaps, according to the paradigm, they have been deemed incapable of existing -can constitute a serious challenge to a paradigm. Sometimes, these phenomena can...

SUMMARY Growth failure and nutritional status were evaluated in 141 children with quadriplegic cerebral palsy, aged between two and 18 years. Linear growth was assessed by upper‐arm and lower‐leg lengths: both means were significantly reduced. Mean bodyweight and triceps skinfold thickness fat stores were reduced to 65 per cent medians and subscapular skinfold fat stores to 81 per cent median. Muscle stores were the most preserved and reduced to 88 per cent median. Examination of the sample by age‐group showed significant reductions in growth and nutrition status indicators, even at two to four years, except for muscle area. TO determine the degree to which nutritional status affected linear growth, a set of two‐step regression analyses was conducted. The linear growth measures were significantly correlated with the measures of nutritional status. RÉSUMÉ Défaur de croissance d'origine alintentaire chet les en fants présentant une forme tétraplegique’ d ‘IMC Le défaut de croissance et létat nutritional ont Aeté appréciés chez 142 enfants presentant une forme tétraplégique d'IMC, Pges de deux à 18 ans. La taille (croissance linéaire) fut déduite des longueurs du bras et de la jambe: les deux moyennes étaient significativement basses. Le poids total moyen et I‘épaisseur moyenne du pli cutané au triceps (appréciant la charge en graisse) étaient réduits à 65 pour cent du médian et le pli cutané sous scapulaire à 81 pour cent du médian. La masse musculaire était la mieux préservée, réduite á 88 pour cent du médian. L'examen de I‘échantillon par groupe d'ǎges démontrait des rAeductions significatives de la croissance et des indicateurs de I‘état nutritional. měme entre deux et quatre ans, sauf pour la masse musculaire. Pour déterminer le degré selon lequel létat nutritional affectait la taille, un ensemble d'analyses de régression à deux échelons a étéétabli. Les mesures de la taille étaient significativement corrélées aux mesures de l‘état nutritionnel. ZUSAMMENFASSUNG Ernährungsbedingte Wachstumsverzögerrrng bei Kindern mit Terraplegie Bei 142 Kindern im Alter zwischen zwei und 18 Jahren mit tetraplegischer Cerebralparese wurden Wachstumverzögerung und Ernährungszustand beurteilt. Das lineare Wachstum wurde anhand von Unterarm‐ und Unterschenkellängen bestimmt: beide Manβe waren signifikant vermindert. Das mittlere Körpergewicht und die Hautfattendicke über dem Triceps (Fettspeicher) waren im Mittel auf 65 Prozent und die subscapularen Hautfaltenfettspeicher auf 81 Prozent reduziert. Die Muskelspeicher waren am besten erhalten und im Mittel auf 88 Prozent reduziert. Die Untersuchung einzelner Altersgruppen zeigte selbst bei zweibis vier‐jáhrigen eine signifikante Reduktion der Parameter für Wachstum und Ernährung auβer im muskulären Bereich. Um festzustellen, in welchum Maβe der Ernährungszustand das lineare Wachstum beeinfluβte, wurden Regressionsanalysen durchgeführt. Das lineare Wachstum korrelierte signifikant mit dem Ernährungszustand. RESUMEN Deficiencia en el crecimiento en relaciön con la nutrició...

No abstract