Expressive language in male adolescents with fragile X syndrome with and without comorbid autism.

BACKGROUND: Approximately one-quarter of individuals with fragile X syndrome (FXS) meet diagnostic criteria for autism; however, it is unclear whether individuals with comorbid FXS and autism are simply more severely affected than their peers with only FXS or whether they have qualitatively different profiles of behavioural impairments. To address this issue, variation in the FXS linguistic phenotype was examined in males with FXS with and without autism. The syndrome-specificity of the expressive language impairment of both groups of those with FXS was assessed in relation to Down syndrome. The extent to which different language sampling contexts affected expressive language in each diagnostic group was also examined. METHOD: Spontaneous language samples were collected from male adolescents with FXS without autism (n = 20), comorbid FXS and autism (n = 8), and Down syndrome (n = 16). Syntactic complexity (indexed by mean length of utterance), expressive vocabulary (indexed by lexical diversity), talkativeness, fluency and intelligibility were assessed in two contexts: conversation and narration. Groups were matched on non-verbal IQ, non-verbal mental age and chronological age to allow the assessment of relative strengths and weaknesses across language variables. RESULTS: Males with comorbid FXS and autism were less intelligible than males with only FXS; no other differences between these two groups were found. Participants' performance differed across contexts for syntactic complexity, lexical diversity, talkativeness and fluency. CONCLUSIONS: These findings contribute to existing research on the behavioural profiles of individuals with FXS or FXS with autism who have low cognitive abilities. Although individuals with comorbid FXS and autism may be, as a group, more impaired than those with only FXS, data from this small sample of males with comorbid FXS and autism with low IQs suggest that their relative strengths and weaknesses in spontaneous expressive language are largely comparable and not differentially affected by the context in which their talk occurs.

Description of an intraperitoneal tumour xenograft survival model in the pig.

AIMS: Experimental animal studies are necessary if the results of minimally invasive oncological surgery are to be improved. In particular the influence of surgical technique on tumour implantation needs further assessment. Small animals such as rodents are inappropriate for such laparoscopic surgical studies. There is a requirement for another animal tumour model with animals greater in size. METHODS: Accordingly we developed an intraperitoneal tumour xenograft survival model using the domesticated pig. After creating a 12 mmHg pneumoperitoneum, 10(7)human HeLa cells were injected into the peritoneal cavity of nine non-syngeneic animals to induce tumour xenograft. Resection of the sigmoid colon using four trocars and a transanal double-stapling technique was performed. The mean operating time was 69 min. No signs of post-operative pain symptoms were observed, and all the animals survived the procedure and gained weight. After 4 weeks, the animals were sacrified and all incision sites and anastomoses were excised. RESULTS: Immunohistochemical staining with antihuman pancytokeratin antibodies confirmed tumour implants in 25 out of 36 port-sites (63.8%). No peritoneal carcinosis nor tumour implants at anastomosis sites were observed. CONCLUSION: This intraperitoneal xenograft tumour model in the pig can be applied in survival studies to check the quality of surgical techniques and its influence on tumour implantation following laparoscopy for cancer.

A theoretical test of the DNA repair hypothesis for the maintenance of sex in eukaryotes.

The DNA repair hypothesis for the maintenance of sex states that recombination is necessary for the repair of double-strand DNA damage. In a closed (mitotic) genetic system crossing-over generates homozygosity. This reduces fitness if deleterious recessive alleles become expressed. Thus, outcrossing is required to restore heterozygosity destroyed by recombination. The repair hypothesis is tested by comparing outcrossing sexuality with a hypothetical parthenogenic strategy (the Prudent Reparator) which destroys as little heterozygosity during repair as possible. In the Prudent Reparator, repair of double-strand DNA damage results in a small amount of homozygosity due to gene conversion only, since this process does not render outside markers homozygous. Diploidy, deleterious recessives, multiplicative fitness and linkage equilibrium in mutation-selection balance are assumed. The average fitness of this population increases, and complementation (i.e. masking of recessives in heterozygous form) decreases with the rate of damage per locus. The equilibrium fitness of the Prudent Reparator can be well above that of the sexual population. A lower complementation ability of parthenogens may not be an impenetrable barrier to their successful establishment if the invader's genome is relatively uncontaminated by mutant alleles: there are always such genotypes in the sexual population. Thus, the Prudent Reparator could solve the problem of repairing damage as well as that of invading an existing outcrossing population. As we do not see this strategy widely adopted instead of sexuality, the repair hypothesis is likely to miss some essential feature of the evolution of sex.