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Parental practices and environmental factors can impact a child's development and, consequently, functionality. The objective is to assess the parental practices and environmental differences in healthy and at-risk infants at 3-6 months of age living in upper-middle (Brazil) and high-income (Italy) countries. A total group of 115 infants was identified and classified into four groups: healthy Italian infants (H_IT); Italian infants exposed to biological risk factors (R_IT); healthy Brazilian infants (H_BR); and Brazilian infants exposed to environmental risk factors (L_BR). The dependent variables were parental practices and environmental factors, which were assessed through a semi-structured interview and the "variety of stimulation dimension" from the Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS) questionnaire. Descriptive analyses, a multivariate analysis of variance (MANOVA), and correlation tests were applied. Regarding the environment and parental practices, the mother's age, maternal and paternal education, civil status, and variety of stimulation showed significant differences among the infants living in Brazil or in Italy. There were strong dissimilarities in parental practices and environmental factors among infants living in low/upper-middle and high-income countries. Since the home environment is the main stimulus for infant growth and development, our results are meaningful for providing knowledge about these two different cultures.

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing., (2008 Wiley-Liss, Inc.)