The communicative use of pointing in autism: developmental profile and factors related to change.

PURPOSE: To describe different longitudinal profiles in communicative abilities and symptoms severity in early autism. METHODS: Five children with autism, aged from 3;3 to 4;10 years at baseline, were tested for production and comprehension of imperative and declarative pointing at about 4-month intervals. Concurrently with these sessions, children were evaluated in terms of cognitive and communicative abilities, and symptoms severity. RESULTS: Four subjects showed a mild to severe retardation in communicative and linguistic abilities. For production, all children exhibited the imperative pointing and only one the declarative pointing. For comprehension, two subjects showed the same profile as in production ('only imperative' and 'first imperative-later declarative', respectively). One child did not show any clear comprehension of the pointing gestures produced by the experimenter, and one child was able to understand both pointing in the same session. Childhood autism rating scale (CARS) global scores tended to decrease across sessions for all subjects and different individual profiles were identified. DISCUSSION: Declarative or experience-sharing pointing emerged later in one child only; it remained absent in four children as production, and in two children as comprehension. A preliminary conclusion based on CARS rating, is that autism involves a symptomatology that may decrease across time even if children differ in the decreasing profile relative to specific scores.     

Visual sensations produced by optic nerve stimulation using an implanted self-sizing spiral cuff electrode

A blind volunteer with retinitis pigmentosa was chronically implanted with a self-sizing spiral cuff electrode around an optic nerve. Electrical stimuli applied to the nerve produced localized visual sensations that were broadly distributed throughout the visual field and could be varied by changing the stimulating conditions. These results demonstrate the potential for constructing a visual prosthesis, based on electrical stimulation of the optic nerve, for blind subjects who have intact retinal ganglion cells.     

Day-hospital treatment of acute pericarditis: a management program for outpatient therapy

OBJECTIVES: We sought to investigate the safety and efficacy of a protocol for acute pericarditis triage and outpatient management of low-risk cases. BACKGROUND: Acute pericarditis has generally a brief and benign course after empiric treatment by non-steroidal anti-inflammatory drugs, and routine hospitalization of most patients may be unnecessary. METHODS: From January 1996 to December 2001, all consecutive cases of acute pericarditis were evaluated on a day-hospital basis. Patients without clinical poor prognostic predictors (fever >38 degrees C, subacute onset, immunodepression, trauma, oral anticoagulant therapy, myopericarditis, severe pericardial effusion, cardiac tamponade) were considered low-risk cases and assigned to outpatient treatment with high-dose oral aspirin. Patients with poor prognostic predictors or aspirin failure were hospitalized for etiology search and treatment. A clinical and echocardiographic follow-up was performed at 48 to 72 h, 7 to 10 days, 1 month, 6 months, and 1 year. RESULTS: Two hundred fifty-four out of 300 (84.7%) patients were selected as low-risk cases. Outpatient treatment was efficacious in 221 out of 254 (87%) cases. Thirty-three out of 254 patients were hospitalized because of aspirin failure. Patients treated on an out-of-hospital basis had no serious complications after a mean follow-up of 38 months (no cases of cardiac tamponade). A higher frequency of recurrences and constriction was recorded in aspirin-resistant cases than in aspirin responders (60.6% vs. 10.4% for recurrences and 9.1% vs. 0.5% for constriction, respectively; all p < 0.01). CONCLUSIONS: A protocol for acute pericarditis triage and outpatient therapy of low-risk cases is safe and efficacious and may reduce management costs.     

Proopiocortin-related peptide plasma levels throughout prepuberty and puberty

The plasma patterns of ACTH, beta-lipotropin (beta LPH) and beta-endorphin (beta EP), in addition to those of cortisol and dehydroepiandrosterone sulfate (DHAS), were studied in 139 prepubertal children (subdivided into different age groups) and 38 adolescents (subdivided according to Tanner's pubertal stages) aged 10-16 yr. The adult control group was composed of 23 females and 12 males aged 17-40 yr. No sex differences were found in ACTH, beta LPH, beta EP, and cortisol plasma levels. ACTH plasma levels were slightly lower in the 1- to 3-yr-old groups than in males at 4-5 yr and females at 8-9 yr. No further significant differences were observed in any of the age or pubertal groups, the concentrations being constantly in the adult range. beta LPH and beta EP plasma levels were lowest at 1-3 yr in both males (beta LPH: 2.1 +/- 0.25, beta EP: 1.85 +/- 0.59 fmol/ml, mean +/- SE) and females (beta LPH: 2.8 +/- 0.31; beta EP: 2.41 +/- 0.41 fmol/ml); plasma levels of both hormones increased progressively in both sexes until Puberty 1 stage of sexual maturation, at which time levels were 7.3 +/- 0.78 and 8.69 +/- 1.0 fmol/ml in males and 7.1 +/- 0.34 and 6.76 +/- 0.13 fmol/ml in females; these levels are similar to adult values. A highly significant linear correlation was found between both beta LPH and beta EP concentrations and the age of the subjects; this was not true for ACTH plasma levels. Cortisol plasma levels were similar in all groups. DHAS plasma levels increased progressively from 1-3 yr to the end of sexual maturation when adult values were reached. During prepuberty, DHAS levels were significantly correlated with both beta LPH and beta EP, but not ACTH. These data indicate that plasma beta LPH and beta EP concentrations, in contrast to ACTH levels, increase progressively throughout prepuberty and suggest that the processing of the parent proopiocortin molecule or secretion of the processed peptides from the anterior pituitary (or other sources) may change from early infancy to adulthood. Furthermore, the correlation between both beta LPH and beta EP with DHAS plasma levels in prepuberty suggests a role of proopiocortin-related peptides in adrenarche.     

Experience in therapeutic-diagnostic arthroscopy of the knee joint in ambulatory care

The authors analyse the experience of ambulatory observations of 126 patients with functional disturbances of knee joint with application of arthroscopy, which was carried out with local anesthesia for diagnostic as well as for curative purposes. On the basis of the obtained results the authors make conclusion about high practical value of the given method, that finds expression in decrease of psychosomatic stress of a patient, reduction of social expenses for carrying out arthroscopy as well as in the possibility of immediate transition from diagnostic examination to surgical intervention.     

The behavioral phenotype of the idic(15) syndrome

Idic(15) syndrome is a neurogenetic disorder clinically delineated by early central hypotonia, developmental delay and intellectual disability (ID), epilepsy, absent or very poor speech, and autistic or autistic-like behavior. It is due to the presence of a supernumerary marker chromosome formed by the inverted duplication of proximal chromosome 15, resulting in tetrasomy 15p and partial tetrasomy 15q, and containing the Prader-Willi/Angelman syndrome critical region (PWS/ASCR). The vast majority of these idic(15) derives from the two homologous maternal chromosomes at meiosis. To better define the behavior profile, we studied 22 idic(15) children (15 males and 7 females) observed at our institute between 1986 and 2010, and present, in detail, case studies of five of them. We have been able to perform standardized and semi-standardized measures of intelligence, and psychopathology in only 13 of our 22 patients, due to the limitations of chronological age, and to the severity of ID (ranging from mild-moderate, in 15%, to severe-profound, in 85% of our sample). The results show a distinct developmental profile in idic(15) patients, that may provide a behavioral signature for autism spectrum disorder (ASD)/ASD-like arising from the susceptibility locus on proximal 15q; and suggest that idic(15) individuals are not "true autistic," but distinct "autistic-like" persons with high score in the third ADOS-G and ADI-R area.