The role of motion in children's categorization of objects.

Perceptual cues play a fundamental role in early categorization of objects. What is meant by perceptual cues in the literature, however, is not always clear. It is fair to say that they are typically understood to be static shape cues. A number of recent studies have suggested that dynamic perceptual cues, such as motion, may also be important in early categorization. The study presented here explored the role that motion plays in children's categorization of animal and non-animal kinds, such as geometric figures. Motion was directly pitted against shape as a cue for categorization. Results showed that 4-year-old children, confronted with a choice between shape and motion, significantly used motion cues over shape cues to categorize objects, regardless of whether they were animals or geometric figures. Seven-year-olds also tended to use motion more often to categorize animals but not when dealing with geometric figures. Older children, who have been found to have a clearer natural kind/artifact distinction, seem to appreciate the uniqueness of movement to animals and see motion as more relevant to their categorization but relatively less so to categorize geometric figures. This developmental shift in the categorization of animals and geometric figures based on motion was further confirmed by testing adults on the same tasks. Adults were found to base their judgements significantly more often on motion for animals but not for geometric figures. These findings support the view that children are initially guided by motion in object categorization, suggesting that motion plays an overriding role that is central in the process of concept acquisition and in the mechanisms by which concepts are later structured.

New mutations of the HPRT gene in Lesch-Nyhan syndrome.

Lesch-Nyhan syndrome is an X-linked recessive disorder involving the purine metabolism, with resultant hyperuricemia, choreoathetosis, self-mutilation, and profound neurologic dysfunction. A deficiency of the enzyme hypoxanthine guanine phosphoribosyl-transferase is responsible for the disease. The human HPRT gene is located at Xq26-27 and consists of 57 base pairs. At least 2,000 mutations throughout the HPRT gene coding region from exon 1-9 have been reported. Four patients from three Chinese families were diagnosed with Lesch-Nyhan syndrome according to the clinical and laboratory findings. DNA studies revealed the first family (Patients 1 and 2) had a missense mutation in exon 3 of the HPRT encoding region. This novel mutation occurs in the hot spot of the HPRT gene. The second family (Patient 3) was found to have a missense mutation in exon 8 of the HPRT gene. The third family (Patient 4) carried a mutation in the splicing region of intron 4 of the HPRT gene. All three mutations were de novo.

A novel mutation in neonatal isolated sulphite oxidase deficiency.

Isolated sulphite oxidase deficiency (ISOD) is a very rare hereditary metabolic disorder. Imaging findings of the neonatal form of ISOD, including multicystic leukoencephalopathy with brain atrophy, resemble those of severe ischemic changes of the brain. We report the case of a ten-month-old boy who exhibited neonatal seizures on the 24th day after birth. Excessive quantities of sulphite and S-sulphocysteine in the urine and normal blood uric acid were noted. These findings were consistent with those of ISOD. Point mutations were found in two alleles of the sulphite oxidase (SUOX) gene. One of the mutations was a 1029 C > G mutation, which resulted in an amino acid substitution of tyrosine to a stop code (Y343 X); and the other was a 479 G > A mutation, which resulted in an amino acid substitution of arginine to glutamine (R160 Q). Y343 X is a novel SUOX gene mutation. A review of the literature, including data from this report, showed that 3 of 6 cases had typical imaging findings characterized by initial cerebral edema followed by dramatic multicystic leukoencephalopathy. We emphasize that neonatal ISOD should be included in the differential diagnosis of neonates with unexplained hypoxic-ischemic changes on neuroimaging studies.